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Every condition Juno supports

From the most common to the rarest. If you’re living with it day to day, Juno can help, and you don’t need a diagnosis to start.

8,869 conditions, from the most common to the rarest.

  1. 10p13-p14 deletion syndrome
  2. 10q22.3q23.3 microdeletion syndrome
  3. 10q22.3q23.3 microduplication syndrome
  4. 11p15.4 microduplication syndrome
  5. 11q22.2q22.3 microdeletion syndrome
  6. 12p12.1 microdeletion syndrome
  7. 12q14 microdeletion syndrome
  8. 12q15q21 microdeletion syndrome
  9. 12q24.31 microdeletion syndrome
  10. 13q12.3 microdeletion syndrome
  11. 14q11.2 microdeletion syndrome
  12. 14q11.2 microduplication syndrome
  13. 14q22q23 microdeletion syndrome
  14. 14q24.1q24.3 microdeletion syndrome
  15. 14q32 duplication syndrome
  16. 15q overgrowth syndrome
  17. 15q11.2 microdeletion syndrome
  18. 15q11q13 microduplication syndrome
  19. 15q13.3 microdeletion syndrome
  20. 15q24 microdeletion syndrome
  21. 16p11.2p12.2 microdeletion syndrome
  22. 16p11.2p12.2 microduplication syndrome
  23. 16p12.1p12.3 triplication syndrome
  24. 16p13.11 microdeletion syndrome
  25. 16p13.11 microduplication syndrome
  26. 16p13.3 microduplication syndrome
  27. 16q22 deletion syndrome
  28. 16q24.1 microdeletion syndrome
  29. 16q24.3 microdeletion syndrome
  30. 17p11.2 microduplication syndrome
  31. 17p13.3 microduplication syndrome
  32. 17q11 microdeletion syndrome
  33. 17q11.2 microduplication syndrome
  34. 17q12 microdeletion syndrome
  35. 17q12 microduplication syndrome
  36. 17q21.31 microdeletion syndrome
  37. 17q21.31 microduplication syndrome
  38. 17q23.1q23.2 microdeletion syndrome
  39. 17q24.2 microdeletion syndrome
  40. 19p13.12 microdeletion syndrome
  41. 19p13.13 microdeletion syndrome
  42. 19p13.3 microduplication syndrome
  43. 19q13.11 microdeletion syndrome
  44. 1p21.3 microdeletion syndrome
  45. 1p31p32 microdeletion syndrome
  46. 1p35.2 microdeletion syndrome
  47. 1p36 deletion syndrome
  48. 1p36.33 duplication syndrome
  49. 1q21.1 microdeletion syndrome
  50. 1q21.1 microduplication syndrome
  51. 1q41q42 microdeletion syndrome
  52. 1q44 microdeletion syndrome
  53. 2-aminoadipic 2-oxoadipic aciduria
  54. 2-hydroxyglutaric aciduria
  55. 2-methylbutyryl-CoA dehydrogenase deficiency
  56. 20p12.3 microdeletion syndrome
  57. 20p13 microdeletion syndrome
  58. 20q11.2 microdeletion syndrome
  59. 20q11.2 microduplication syndrome
  60. 20q13.33 microdeletion syndrome
  61. 21q deletion syndrome
  62. 21q22.11q22.12 microdeletion syndrome
  63. 22q11.2 deletion syndrome
  64. 22q11.2 duplication syndrome
  65. 2p13.2 microdeletion syndrome
  66. 2p14p15 microdeletion syndrome
  67. 2p15p16.1 microdeletion syndrome
  68. 2p21 microdeletion syndrome
  69. 2p21 microdeletion syndrome without cystinuria
  70. 2p25.3 microduplication syndrome
  71. 2q13 microdeletion syndrome
  72. 2q23.1 microdeletion syndrome
  73. 2q23.1 microduplication syndrome
  74. 2q31.1 microdeletion syndrome
  75. 2q32q33 deletion syndrome
  76. 2q37 microdeletion syndrome
  77. 3-hydroxy-3-methylglutaric aciduria
  78. 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
  79. 3-hydroxyacyl-CoA dehydrogenase deficiency
  80. 3-hydroxyisobutyric aciduria
  81. 3-methylcrotonyl-CoA carboxylase deficiency
  82. 3-methylglutaconic aciduria
  83. 3-methylglutaconic aciduria type 1
  84. 3-methylglutaconic aciduria type 3
  85. 3-methylglutaconic aciduria type 4
  86. 3-methylglutaconic aciduria type 8
  87. 3-methylglutaconic aciduria type 9
  88. 3C syndrome
  89. 3M syndrome
  90. 3MC syndrome
  91. 3p25.3 microdeletion syndrome
  92. 3q13 microdeletion syndrome
  93. 3q26 microduplication syndrome
  94. 3q26q27 microdeletion syndrome
  95. 3q26q28 deletion syndrome
  96. 3q27.3 microdeletion syndrome
  97. 3q29 microdeletion syndrome
  98. 3q29 microduplication syndrome
  99. 45,X/46,XY mixed gonadal dysgenesis
  100. 46,XX difference of sex development
  101. 46,XX disorder of gonadal development
  102. 46,XX gonadal dysgenesis
  103. 46,XX ovarian dysgenesis-short stature syndrome
  104. 46,XX ovotesticular difference of sex development
  105. 46,XX testicular difference of sex development
  106. 46,XY complete gonadal dysgenesis
  107. 46,XY difference of sex development
  108. 46,XY difference of sex development of endocrine origin
  109. 46,XY disorder of gonadal development
  110. 46,XY ovotesticular difference of sex development
  111. 46,XY partial gonadal dysgenesis
  112. 47,XYY syndrome
  113. 48,XXXY syndrome
  114. 48,XXYY syndrome
  115. 48,XYYY syndrome
  116. 49,XXXXY syndrome
  117. 49,XXXYY syndrome
  118. 49,XYYYY syndrome
  119. 4H leukodystrophy
  120. 4p16.3 microduplication syndrome
  121. 4q21 microdeletion syndrome
  122. 4q25 proximal deletion syndrome
  123. 5-fluorouracil poisoning
  124. 5-oxoprolinase deficiency
  125. 5p13 microduplication syndrome
  126. 5q14.3 microdeletion syndrome
  127. 5q22 microdeletion syndrome
  128. 5q35 microduplication syndrome
  129. 6-phosphogluconate dehydrogenase deficiency
  130. 6-pyruvoyl-tetrahydropterin synthase deficiency
  131. 6p22 microdeletion syndrome
  132. 6q terminal deletion syndrome
  133. 6q16 microdeletion syndrome
  134. 6q25.1 microdeletion syndrome
  135. 6q25.2q25.3 microdeletion syndrome
  136. 7p22.1 microduplication syndrome
  137. 7q11.23 microduplication syndrome
  138. 7q31 microdeletion syndrome
  139. 8p inverted duplication/deletion syndrome
  140. 8p11.2 deletion syndrome
  141. 8p23.1 duplication syndrome
  142. 8p23.1 microdeletion syndrome
  143. 8q12 microduplication syndrome
  144. 8q21.11 microdeletion syndrome
  145. 8q22.1 microdeletion syndrome
  146. 8q24.3 microdeletion syndrome
  147. 9p13 microdeletion syndrome
  148. 9p23p22.2 microdeletion syndrome
  149. 9q21.13 microdeletion syndrome
  150. 9q31.1q31.3 microdeletion syndrome
  151. 9q33.3q34.11 microdeletion syndrome
  152. AA amyloidosis
  153. AApoAI amyloidosis
  154. AApoAII amyloidosis
  155. AApoAIV amyloidosis
  156. Aarskog-Scott syndrome
  157. Aase-Smith syndrome type 1
  158. ABCD syndrome
  159. Abdominal arteriovenous malformation
  160. ABeta amyloidosis, Arctic type
  161. ABeta amyloidosis, Dutch type
  162. ABeta amyloidosis, Iowa type
  163. ABeta amyloidosis, Italian type
  164. ABeta2M amyloidosis
  165. ABetaA21G amyloidosis
  166. ABetaL34V amyloidosis
  167. Abetalipoproteinemia
  168. Ablepharon macrostomia syndrome
  169. Abnormal number of coronary ostia
  170. Abnormal origin of the pulmonary artery
  171. ABri amyloidosis
  172. Abruzzo-Erickson syndrome
  173. Absence deformity of leg-cataract syndrome
  174. Absence of fingerprints-congenital milia syndrome
  175. Absence of innominate vein
  176. Absence of the pulmonary artery
  177. Absence of uterine body
  178. Absent radius-anogenital anomalies syndrome
  179. Absent thumb-short stature-immunodeficiency syndrome
  180. Absent tibia-polydactyly-arachnoid cyst syndrome
  181. Acalvaria
  182. Acanthokeratolytic verrucous nevus
  183. Acatalasemia
  184. Accessory mitral valve tissue
  185. Accessory pancreas
  186. Accessory tricuspid valve tissue
  187. Aceruloplasminemia
  188. Acetazolamide-responsive myotonia
  189. Achalasia-alacrimia syndrome
  190. Achalasia-microcephaly syndrome
  191. Achondrogenesis
  192. Achondrogenesis type 1A
  193. Achondrogenesis type 1B
  194. Achondrogenesis type 2
  195. Achondroplasia
  196. Achromatopsia
  197. Acid sphingomyelinase deficiency
  198. Acinar cell carcinoma of pancreas
  199. Acinar cystic transformation of the pancreas
  200. Acitretin/etretinate embryopathy
  201. Acquired amyloid peripheral neuropathy
  202. Acquired aneurysmal subarachnoid hemorrhage
  203. Acquired angioedema
  204. Acquired angioedema type 1
  205. Acquired angioedema type 2
  206. Acquired angioedema with C1Inh deficiency
  207. Acquired arginine vasopressin deficiency
  208. Acquired ataxia
  209. Acquired chronic primary adrenal insufficiency
  210. Acquired Creutzfeldt-Jakob disease
  211. Acquired cutis laxa
  212. Acquired cystic disease-associated renal cell carcinoma
  213. Acquired dermis elastic tissue disorder
  214. Acquired elastotic haemangioma
  215. Acquired factor V deficiency
  216. Acquired factor VII deficiency
  217. Acquired factor X deficiency
  218. Acquired factor XI deficiency
  219. Acquired factor XIII deficiency
  220. Acquired generalized lipodystrophy
  221. Acquired hemophilia A
  222. Acquired hemophilia B
  223. Acquired human prion disease
  224. Acquired hypertrichosis lanuginosa
  225. Acquired hypothalamic obesity
  226. Acquired ichthyosis
  227. Acquired idiopathic sideroblastic anemia
  228. Acquired immunodeficiency
  229. Acquired intracranial dural arteriovenous fistula
  230. Acquired kinky hair syndrome
  231. Acquired lipodystrophy
  232. Acquired methemoglobinemia
  233. Acquired motor neuron disease
  234. Acquired neuromuscular junction disease
  235. Acquired neutropenia
  236. Acquired partial lipodystrophy
  237. Acquired peripheral movement disorder
  238. Acquired peripheral neuropathy
  239. Acquired pituitary hormone deficiency
  240. Acquired porencephaly
  241. Acquired prothrombin deficiency
  242. Acquired pseudoxanthoma elasticum
  243. Acquired purpura fulminans
  244. Acquired schizencephaly
  245. Acquired secondary polycythemia
  246. Acquired sensory ganglionopathy
  247. Acquired skeletal muscle disease
  248. Acquired spinal dural arteriovenous fistula
  249. Acquired von Willebrand syndrome
  250. Acral peeling skin syndrome
  251. Acral persistent papular mucinosis
  252. Acral self-healing collodion baby
  253. Acro-renal-mandibular syndrome
  254. Acro-renal-ocular syndrome
  255. Acrocallosal syndrome
  256. Acrocapitofemoral dysplasia
  257. Acrocardiofacial syndrome
  258. Acrocephalopolydactyly
  259. Acrocraniofacial dysostosis
  260. Acrodermatitis continua of Hallopeau
  261. Acrodermatitis enteropathica
  262. Acrodysostosis
  263. Acrodysplasia scoliosis
  264. Acrofacial dysostosis
  265. Acrofacial dysostosis, Catania type
  266. Acrofacial dysostosis, Kennedy-Teebi type
  267. Acrofacial dysostosis, Palagonia type
  268. Acrofacial dysostosis, Rodriguez type
  269. Acrofacial dysostosis, Weyers type
  270. Acrofrontofacionasal dysostosis
  271. Acrogeria
  272. Acrokeratoderma
  273. Acrokeratoelastoidosis of Costa
  274. Acrokeratosis verruciformis of Hopf
  275. Acromegaloid facial appearance syndrome
  276. Acromegaly
  277. Acromegaly-cutis verticis gyrata-corneal leukoma syndrome
  278. Acromelanosis
  279. Acromelic dysplasia
  280. Acromelic frontonasal dysplasia
  281. Acromesomelic dysplasia
  282. Acromesomelic dysplasia, Grebe type
  283. Acromesomelic dysplasia, Hunter-Thompson type
  284. Acromesomelic dysplasia, Maroteaux type
  285. Acromicric dysplasia
  286. Acrootoocular syndrome
  287. Acropectoral syndrome
  288. Acropectororenal dysplasia
  289. Acropectorovertebral dysplasia
  290. Acrorenal syndrome
  291. ACTH-dependent Cushing syndrome
  292. Actinic lichen planus
  293. Actinic prurigo
  294. Actinomycosis
  295. Actinomyopathy-associated syndromic thrombocytopenia
  296. Action myoclonus-renal failure syndrome
  297. Activated PI3K-delta syndrome
  298. Activated PI3K-delta syndrome 1
  299. Activated PI3K-delta syndrome 2
  300. Acute ackee fruit intoxication
  301. Acute adrenal insufficiency
  302. Acute annular outer retinopathy
  303. Acute basophilic leukemia
  304. Acute bilirubin encephalopathy
  305. Acute biphenotypic leukemia
  306. Acute disseminated encephalomyelitis
  307. Acute endophthalmitis
  308. Acute erythroid leukemia
  309. Acute exudative polymorphous vitelliform maculopathy
  310. Acute fatty liver of pregnancy
  311. Acute flaccid myelitis
  312. Acute generalized exanthematous pustulosis
  313. Acute graft versus host disease
  314. Acute hepatic porphyria
  315. Acute idiopathic maculopathy
  316. Acute inflammatory demyelinating polyradiculoneuropathy
  317. Acute intermittent porphyria
  318. Acute interstitial pneumonia
  319. Acute leukemia of ambiguous lineage
  320. Acute liver failure
  321. Acute lung injury
  322. Acute lymphoblastic leukemia
  323. Acute macular neuroretinopathy
  324. Acute mast cell leukemia
  325. Acute megakaryoblastic leukemia
  326. Acute megakaryoblastic leukemia in adult
  327. Acute monoblastic/monocytic leukemia
  328. Acute motor and sensory axonal neuropathy
  329. Acute motor axonal neuropathy
  330. Acute myeloblastic leukemia with maturation
  331. Acute myeloblastic leukemia without maturation
  332. Acute myeloid leukemia
  333. Acute myeloid leukemia with 11q23 abnormalities
  334. Acute myeloid leukemia with CEBPA somatic mutations
  335. Acute myeloid leukemia with minimal differentiation
  336. Acute myeloid leukemia with NPM1 somatic mutations
  337. Acute myeloid leukemia with recurrent genetic anomaly
  338. Acute myeloid leukemia with t(6;9)(p23;q34)
  339. Acute myeloid leukemia with t(9;11)(p22;q23)
  340. Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
  341. Acute myelomonocytic leukemia
  342. Acute necrotizing encephalopathy of childhood
  343. Acute neonatal citrullinemia type I
  344. Acute opioid intoxication
  345. Acute pandysautonomia
  346. Acute panmyelosis with myelofibrosis
  347. Acute peripheral arterial occlusion
  348. Acute poisoning by drugs with membrane-stabilizing effect
  349. Acute posterior multifocal placoid pigment epitheliopathy
  350. Acute promyelocytic leukemia
  351. Acute pure sensory neuropathy
  352. Acute radiation syndrome
  353. Acute sensory ataxic neuropathy
  354. Acute transverse myelitis
  355. Acute transverse myelitis with anti-MOG antibodies
  356. Acute tricyclic antidepressant poisoning
  357. Acute undifferentiated leukemia
  358. Acute zonal occult outer retinopathy
  359. Acyl-CoA dehydrogenase 9 deficiency
  360. Acyl-CoA dehydrogenase deficiency
  361. ACys amyloidosis
  362. Adamantinoma
  363. Adams-Oliver syndrome
  364. ADan amyloidosis
  365. ADAR-related hereditary spastic paraplegia
  366. Addison disease
  367. Addison’s disease
  368. Adducted thumbs-arthrogryposis syndrome, Christian type
  369. Adenine phosphoribosyltransferase deficiency
  370. Adenocarcinoma of ovary
  371. Adenocarcinoma of the anal canal
  372. Adenocarcinoma of the cervix uteri
  373. Adenocarcinoma of the penis
  374. Adenocarcinoma of the small intestine
  375. Adenohypophysitis
  376. Adenoid ameloblastoma
  377. Adenoid basal carcinoma of the cervix uteri
  378. Adenoid cystic carcinoma of the cervix uteri
  379. Adenoma of pancreas
  380. Adenomatoid tumour of the peritoneum
  381. Adenomatoid tumour of the pleura
  382. Adenomyosis
  383. Adenosarcoma of the cervix uteri
  384. Adenosarcoma of the corpus uteri
  385. Adenosine monophosphate deaminase deficiency
  386. Adenovirus infection in immunocompromised patients
  387. Adenylosuccinate lyase deficiency
  388. Adermatopathic dermatomyositis
  389. ADHD
  390. Adiposis dolorosa
  391. Adolescent-onset epilepsy syndrome
  392. Adrenal Cushing syndrome
  393. Adrenal hypoplasia congenita
  394. Adrenal insufficiency
  395. Adrenal/paraganglial tumor
  396. Adrenocortical carcinoma
  397. Adrenogenital syndrome
  398. Adrenomyeloneuropathy
  399. Adrenomyodystrophy
  400. Adult acute respiratory distress syndrome
  401. Adult CLN1 disease
  402. Adult CLN5 disease
  403. Adult CLN6 disease
  404. Adult hepatocellular carcinoma
  405. Adult hypophosphatasia
  406. Adult idiopathic neutropenia
  407. Adult intestinal botulism
  408. Adult Krabbe disease
  409. Adult polyglucosan body disease
  410. Adult Refsum disease
  411. ADULT syndrome
  412. Adult T-cell leukemia/lymphoma
  413. Adult-onset autosomal dominant leukodystrophy
  414. Adult-onset autosomal recessive cerebellar ataxia
  415. Adult-onset autosomal recessive sideroblastic anemia
  416. Adult-onset cervical dystonia, DYT23 type
  417. Adult-onset distal myopathy due to VCP mutation
  418. Adult-onset dystonia-parkinsonism
  419. Adult-onset foveomacular vitelliform dystrophy
  420. Adult-onset myasthenia gravis
  421. Adult-onset nemaline myopathy
  422. Adult-onset Steinert myotonic dystrophy
  423. Adult-onset Still disease
  424. Adult-onset Still’s disease
  425. AFib amyloidosis
  426. African tick typhus
  427. African trypanosomiasis
  428. Agammaglobulinemia
  429. AGel amyloidosis
  430. Agenesis of the superior vena cava
  431. Aggressive B-cell non-Hodgkin lymphoma
  432. Aggressive NK-cell leukemia
  433. Aggressive periodontitis
  434. Aggressive primary cutaneous B-cell lymphoma
  435. Aggressive primary cutaneous T-cell lymphoma
  436. Aggressive systemic mastocytosis
  437. Agnathia-holoprosencephaly-situs inversus syndrome
  438. AGR2-related infantile-onset inflammatory bowel disease
  439. AH amyloidosis
  440. AICA-ribosiduria
  441. Aicardi syndrome
  442. Aicardi-Goutieres syndrome
  443. AIDS wasting syndrome
  444. Airway infantile hemangioma
  445. AKT2-related familial partial lipodystrophy
  446. AL amyloidosis
  447. Al-Gazali-Dattani syndrome
  448. Alacrimia-choreoathetosis-liver dysfunction syndrome
  449. Alagille syndrome
  450. Alagille syndrome due to 20p12 microdeletion
  451. Alagille syndrome due to a JAG1 point mutation
  452. Alagille syndrome due to a NOTCH2 point mutation
  453. Aland Islands eye disease
  454. Alar cartilages hypoplasia-coloboma-telecanthus syndrome
  455. Alazami syndrome
  456. Alazami-Yuan syndrome
  457. Albers-Schonberg osteopetrosis
  458. Albinism-deafness syndrome
  459. Albright hereditary osteodystrophy
  460. ALDH18A1-related De Barsy syndrome
  461. ALECT2 amyloidosis
  462. Alexander disease
  463. Alexander disease type I
  464. Alexander disease type II
  465. ALG1-CDG
  466. ALG11-CDG
  467. ALG12-CDG
  468. ALG13-CDG
  469. ALG2-CDG
  470. ALG3-CDG
  471. ALG6-CDG
  472. ALG8-CDG
  473. ALG9-CDG
  474. ALK-negative anaplastic large cell lymphoma
  475. ALK-positive anaplastic large cell lymphoma
  476. ALK-positive large B-cell lymphoma
  477. Alkaline ceramidase 3 deficiency
  478. Alkaptonuria
  479. Allan-Herndon-Dudley syndrome
  480. Allergic bronchopulmonary aspergillosis
  481. Allergies
  482. Alobar holoprosencephaly
  483. Alopecia
  484. Alopecia antibody deficiency
  485. Alopecia areata
  486. Alopecia totalis
  487. Alopecia universalis
  488. Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
  489. Alopecia-hypogonadism-extrapyramidal syndrome
  490. Alopecia-intellectual disability syndrome
  491. Alpers-Huttenlocher syndrome
  492. Alpha delta granule deficiency
  493. Alpha granule disease
  494. Alpha-1-antitrypsin deficiency
  495. Alpha-B crystallin-related late-onset myopathy
  496. Alpha-crystallinopathy
  497. Alpha-gal syndrome
  498. Alpha-heavy chain disease
  499. Alpha-mannosidosis
  500. Alpha-mannosidosis, adult form
  501. Alpha-mannosidosis, infantile form
  502. Alpha-N-acetylgalactosaminidase deficiency
  503. Alpha-N-acetylgalactosaminidase deficiency type 1
  504. Alpha-N-acetylgalactosaminidase deficiency type 2
  505. Alpha-N-acetylgalactosaminidase deficiency type 3
  506. Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
  507. Alpha-thalassemia
  508. Alpha-thalassemia and related disorders
  509. Alpha-thalassemia-myelodysplastic syndrome
  510. ALPI-related inflammatory bowel disease
  511. Alport syndrome
  512. ALS (motor neurone disease)
  513. Alstrom syndrome
  514. Alternating hemiplegia
  515. Alternating hemiplegia of childhood
  516. Alveolar echinococcosis
  517. Alveolar rhabdomyosarcoma
  518. Alveolar soft tissue sarcoma
  519. ALys amyloidosis
  520. Amaurosis-hypertrichosis syndrome
  521. Amelo-onycho-hypohidrotic syndrome
  522. Ameloblastic carcinoma
  523. Ameloblastoma
  524. Amelocerebrohypohidrotic syndrome
  525. Amelogenesis imperfecta
  526. Amelogenesis imperfecta-gingival hyperplasia syndrome
  527. American trypanosomiasis
  528. Amino acid or protein metabolism disease with epilepsy
  529. Aminoacylase 1 deficiency
  530. Aminoacylase deficiency
  531. Aminopterin/methotrexate embryofetopathy
  532. Amish infantile epilepsy syndrome
  533. Amish lethal microcephaly
  534. Amish nemaline myopathy
  535. Amniotic band syndrome
  536. Amniotic fluid embolism
  537. Amoebiasis due to Entamoeba histolytica
  538. Amoebiasis due to free-living amoebae
  539. Amoebic keratitis
  540. Amyloidosis
  541. Amyloidosis cutis dyschromia
  542. Amyopathic dermatomyositis
  543. Amyotrophic lateral sclerosis
  544. Amyotrophic lateral sclerosis type 4
  545. Anaemia
  546. Anal fistula
  547. Anaplastic astrocytoma
  548. Anaplastic ependymoma
  549. Anaplastic ganglioglioma
  550. Anaplastic large cell lymphoma
  551. Anaplastic oligoastrocytoma
  552. Anaplastic oligodendroglioma
  553. Anaplastic thyroid carcinoma
  554. Anaplastic/large cell medulloblastoma
  555. Anastomosing haemangioma
  556. Anauxetic dysplasia
  557. Andersen-Tawil syndrome
  558. Androgen insensitivity syndrome
  559. Androgenetic alopecia
  560. ANE syndrome
  561. Aneurysm of sinus of Valsalva
  562. Aneurysm-osteoarthritis syndrome
  563. Aneurysmal bone cyst
  564. Angel-shaped phalango-epiphyseal dysplasia
  565. Angelman syndrome
  566. Angelman syndrome due to a point mutation
  567. Angelman syndrome due to imprinting defect in 15q11-q13
  568. Angelman syndrome due to maternal 15q11q13 deletion
  569. Angiocentric glioma
  570. Angioimmunoblastic T-cell lymphoma
  571. Angioma serpiginosum
  572. Angiomatoid fibrous histiocytoma
  573. Angioosteohypotrophic syndrome
  574. Angiosarcoma
  575. Angiostrongyliasis
  576. Angora hair nevus
  577. Aniridia-absent patella syndrome
  578. Aniridia-cerebellar ataxia-intellectual disability syndrome
  579. Aniridia-intellectual disability syndrome
  580. Aniridia-renal agenesis-psychomotor retardation syndrome
  581. Anisakiasis
  582. Ankyloblepharon filiforme adnatum-cleft palate syndrome
  583. Ankyloblepharon filiforme adnatum-imperforate anus syndrome
  584. Ankylosing spondylitis
  585. Ankylosing vertebral hyperostosis with tylosis
  586. Ankylostomiasis
  587. Annular atrophic lichen planus
  588. Annular epidermolytic ichthyosis
  589. Annular erythema of infancy
  590. Annular lichen planus
  591. Annular pancreas
  592. Anoctamin-5-related limb-girdle muscular dystrophy R12
  593. Anodontia
  594. Anomalous aortic origin of coronary artery
  595. Anomalous aortic origin of the left coronary artery
  596. Anomalous aortic origin of the right coronary artery
  597. Anomaly of puberty or/and menstrual cycle
  598. Anomaly of the coronary ostia
  599. Anomaly of the filum
  600. Anomaly of the mitral subvalvular apparatus
  601. Anomaly of the tricuspid subvalvular apparatus
  602. Anonychia congenita totalis
  603. Anonychia with flexural pigmentation
  604. Anonychia-microcephaly syndrome
  605. Anonychia-onychodystrophy syndrome
  606. Anophthalmia plus syndrome
  607. Anophthalmia-hypothalamo-pituitary insufficiency syndrome
  608. Anophthalmia/microphthalmia-esophageal atresia syndrome
  609. Anorectal malformation
  610. Anotia
  611. Antecubital pterygium syndrome
  612. Anterior cutaneous nerve entrapment syndrome
  613. Anterior segment developmental anomaly
  614. Anterior segment developmental anomaly of genetic origin
  615. Anterior urethral valve
  616. Anterior uveitis
  617. Anti-glomerular basement membrane disease
  618. Anti-p200 pemphigoid
  619. Antiphospholipid syndrome
  620. Antisynthetase syndrome
  621. Antley-Bixler syndrome
  622. Anxiety
  623. Aortic arch defects
  624. Aortic arch interruption
  625. Aortic malformation
  626. Aorto-left ventricular tunnel
  627. Aorto-right ventricular tunnel
  628. Aorto-ventricular tunnel
  629. Apert syndrome
  630. Aphalangy-syndactyly-microcephaly syndrome
  631. Aplasia cutis congenita
  632. Aplasia cutis-myopia syndrome
  633. Aplasia of lacrimal and salivary glands
  634. Aplastic anemia-intellectual disability-dwarfism syndrome
  635. Apnea of prematurity
  636. Apolipoprotein A-I deficiency
  637. Apparent mineralocorticoid excess
  638. Aprosencephaly
  639. Aprosencephaly cerebellar dysgenesis
  640. Aprosencephaly/atelencephaly spectrum
  641. Aquagenic palmoplantar keratoderma
  642. Aquagenic urticaria
  643. Arachnodactyly-intellectual disability-dysmorphism syndrome
  644. Arachnoid cyst
  645. Arachnoiditis
  646. AREDYLD syndrome
  647. ARFID
  648. Argentine hemorrhagic fever
  649. Arginine vasopressin deficiency
  650. Arginine vasopressin resistance
  651. Argininemia
  652. Argininosuccinic aciduria
  653. Argyria
  654. Arnold-Chiari malformation type I
  655. Aromatase deficiency
  656. Aromatase excess syndrome
  657. Aromatic L-amino acid decarboxylase deficiency
  658. Arrhinia-choanal atresia-microphthalmia syndrome
  659. Arterial dissection-lentiginosis syndrome
  660. Arterial duct anomaly
  661. Arterial thoracic outlet syndrome
  662. Arterial tortuosity syndrome
  663. Arthritis
  664. Arthrochalasia Ehlers-Danlos syndrome
  665. Arthrogryposis multiplex congenita
  666. Arthrogryposis multiplex congenita-whistling face syndrome
  667. Arthrogryposis syndrome
  668. Arthrogryposis-anterior horn cell disease syndrome
  669. Arthrogryposis-ectodermal dysplasia syndrome
  670. Arthrogryposis-hyperkeratosis syndrome, lethal form
  671. Arthrogryposis-renal dysfunction-cholestasis syndrome
  672. Arthrogryposis-severe scoliosis syndrome
  673. ARX-related encephalopathy-brain malformation spectrum
  674. ARX-related epileptic encephalopathy
  675. Asbestos intoxication
  676. Ascending aorta anomaly
  677. Ascher syndrome
  678. Aseptic abscess syndrome
  679. Asherman syndrome
  680. Aspartylglucosaminuria
  681. Aspergillosis
  682. Asthma
  683. Astley-Kendall dysplasia
  684. Astroblastoma
  685. Astrocytoma
  686. Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome
  687. Ataxia neuropathy spectrum
  688. Ataxia with dementia
  689. Ataxia with vitamin E deficiency
  690. Ataxia-deafness-intellectual disability syndrome
  691. Ataxia-hypogonadism-choroidal dystrophy syndrome
  692. Ataxia-oculomotor apraxia type 1
  693. Ataxia-oculomotor apraxia type 4
  694. Ataxia-pancytopenia syndrome
  695. Ataxia-photosensitivity-short stature syndrome
  696. Ataxia-tapetoretinal degeneration syndrome
  697. Ataxia-telangiectasia
  698. Ataxia-telangiectasia variant
  699. Ataxia-telangiectasia-like disorder
  700. Atelencephaly
  701. Atelosteogenesis type I
  702. Atelosteogenesis type II
  703. Atelosteogenesis type III
  704. Athabaskan brainstem dysgenesis syndrome
  705. Athyreosis
  706. Atkin-Flaitz syndrome
  707. Atopic keratoconjunctivitis
  708. ATP13A2-related parkinsonism
  709. ATP6AP1-CDG
  710. Atresia of urethra
  711. Atrial appendage anomaly
  712. Atrial fibrillation
  713. Atrial septal aneurysm
  714. Atrial septal defect, coronary sinus type
  715. Atrial septal defect, ostium primum type
  716. Atrial septal defect, ostium secundum type
  717. Atrial septal defect, sinus venosus type
  718. Atrichia with papular lesions
  719. Atrioventricular septal defect
  720. Atrioventricular valve anomaly
  721. Atrophic lichen planus
  722. Atrophic papulosis
  723. Atrophoderma of Pasini and Pierini
  724. Atrophoderma vermiculata
  725. Attenuated Chediak-Higashi syndrome
  726. Attenuated familial adenomatous polyposis
  727. ATTRV122I amyloidosis
  728. ATTRV30M amyloidosis
  729. Atypical autism
  730. Atypical chronic myeloid leukemia
  731. Atypical dentin dysplasia due to SMOC2 deficiency
  732. Atypical Gaucher disease due to saposin C deficiency
  733. Atypical glycine encephalopathy
  734. Atypical hemolytic uremic syndrome
  735. Atypical hypotonia-cystinuria syndrome
  736. Atypical juvenile parkinsonism
  737. Atypical lichen myxedematosus
  738. Atypical Meigs syndrome
  739. Atypical Norrie disease due to Xp11.3 microdeletion
  740. Atypical pantothenate kinase-associated neurodegeneration
  741. Atypical papilloma of choroid plexus
  742. Atypical progressive supranuclear palsy syndrome
  743. Atypical Rett syndrome
  744. Atypical teratoid rhabdoid tumor
  745. Atypical Timothy syndrome
  746. Atypical Werner syndrome
  747. Audiogenic epilepsy
  748. Auditory neuropathy-optic atrophy syndrome
  749. Auriculocondylar syndrome
  750. Auriculoosteodysplasia
  751. Aurocephalosyndactyly
  752. Autism
  753. Autism spectrum disorder due to AUTS2 deficiency
  754. Autism spectrum disorder-epilepsy-arthrogryposis syndrome
  755. Autism-facial port-wine stain syndrome
  756. Autoerythrocyte sensitization syndrome
  757. Autoimmune bullous skin disease
  758. Autoimmune disease with skin involvement
  759. Autoimmune encephalitis
  760. Autoimmune hemolytic anemia
  761. Autoimmune hemolytic anemia, cold type
  762. Autoimmune hemolytic anemia, warm type
  763. Autoimmune heparin-induced thrombocytopenia
  764. Autoimmune hepatitis
  765. Autoimmune hepatitis type 1
  766. Autoimmune hepatitis type 2
  767. Autoimmune hypoparathyroidism
  768. Autoimmune interstitial lung disease-arthritis syndrome
  769. Autoimmune limbic encephalitis
  770. Autoimmune lymphoproliferative syndrome
  771. Autoimmune neurological channelopathy
  772. Autoimmune pancreatitis
  773. Autoimmune pancreatitis type 1
  774. Autoimmune pancreatitis type 2
  775. Autoimmune polyendocrinopathy
  776. Autoimmune polyendocrinopathy type 1
  777. Autoimmune polyendocrinopathy type 2
  778. Autoimmune polyendocrinopathy type 3
  779. Autoimmune polyendocrinopathy type 4
  780. Autoimmune pulmonary alveolar proteinosis
  781. Autoimmune thrombocytopenia
  782. Autoimmune/inflammatory optic neuropathy
  783. Autoinflammatory syndrome
  784. Autoinflammatory syndrome of childhood
  785. Autoinflammatory syndrome with immune deficiency
  786. Autoinflammatory syndrome with skin involvement
  787. Autosomal anomaly syndrome
  788. Autosomal dominant ACTN2-related distal myopathy
  789. Autosomal dominant Alport syndrome
  790. Autosomal dominant aplasia and myelodysplasia
  791. Autosomal dominant brachyolmia
  792. Autosomal dominant centronuclear myopathy
  793. Autosomal dominant cerebellar ataxia
  794. Autosomal dominant cerebellar ataxia type I
  795. Autosomal dominant cerebellar ataxia type II
  796. Autosomal dominant cerebellar ataxia type III
  797. Autosomal dominant cerebellar ataxia type IV
  798. Autosomal dominant Charcot-Marie-Tooth disease type 2
  799. Autosomal dominant Charcot-Marie-Tooth disease type 2A1
  800. Autosomal dominant Charcot-Marie-Tooth disease type 2A2
  801. Autosomal dominant Charcot-Marie-Tooth disease type 2B
  802. Autosomal dominant Charcot-Marie-Tooth disease type 2C
  803. Autosomal dominant Charcot-Marie-Tooth disease type 2D
  804. Autosomal dominant Charcot-Marie-Tooth disease type 2DD
  805. Autosomal dominant Charcot-Marie-Tooth disease type 2E
  806. Autosomal dominant Charcot-Marie-Tooth disease type 2F
  807. Autosomal dominant Charcot-Marie-Tooth disease type 2G
  808. Autosomal dominant Charcot-Marie-Tooth disease type 2I
  809. Autosomal dominant Charcot-Marie-Tooth disease type 2J
  810. Autosomal dominant Charcot-Marie-Tooth disease type 2K
  811. Autosomal dominant Charcot-Marie-Tooth disease type 2L
  812. Autosomal dominant Charcot-Marie-Tooth disease type 2M
  813. Autosomal dominant Charcot-Marie-Tooth disease type 2N
  814. Autosomal dominant Charcot-Marie-Tooth disease type 2O
  815. Autosomal dominant Charcot-Marie-Tooth disease type 2Q
  816. Autosomal dominant Charcot-Marie-Tooth disease type 2U
  817. Autosomal dominant Charcot-Marie-Tooth disease type 2V
  818. Autosomal dominant Charcot-Marie-Tooth disease type 2W
  819. Autosomal dominant Charcot-Marie-Tooth disease type 2Y
  820. Autosomal dominant Charcot-Marie-Tooth disease type 2Z
  821. Autosomal dominant chorioretinopathy-microcephaly syndrome
  822. Autosomal dominant complex spastic paraplegia
  823. Autosomal dominant cutis laxa
  824. Autosomal dominant deafness-onychodystrophy syndrome
  825. Autosomal dominant distal hereditary motor neuropathy
  826. Autosomal dominant distal myopathy
  827. Autosomal dominant distal nebulin myopathy
  828. Autosomal dominant distal renal tubular acidosis
  829. Autosomal dominant dopa-responsive dystonia
  830. Autosomal dominant Emery-Dreifuss muscular dystrophy
  831. Autosomal dominant epidermolytic ichthyosis
  832. Autosomal dominant focal dystonia, DYT25 type
  833. Autosomal dominant hereditary chronic pancreatitis
  834. Autosomal dominant hyperinsulinism due to SUR1 deficiency
  835. Autosomal dominant hypocalcemia
  836. Autosomal dominant hypohidrotic ectodermal dysplasia
  837. Autosomal dominant hypophosphatemic rickets
  838. Autosomal dominant Kenny-Caffey syndrome
  839. Autosomal dominant keratitis
  840. Autosomal dominant limb-girdle muscular dystrophy
  841. Autosomal dominant limb-girdle muscular dystrophy type 1A
  842. Autosomal dominant limb-girdle muscular dystrophy type 1B
  843. Autosomal dominant limb-girdle muscular dystrophy type 1C
  844. Autosomal dominant limb-girdle muscular dystrophy type 1E
  845. Autosomal dominant macrothrombocytopenia
  846. Autosomal dominant multiple pterygium syndrome
  847. Autosomal dominant myoglobinuria
  848. Autosomal dominant myosin storage myopathy
  849. Autosomal dominant non-syndromic intellectual disability
  850. Autosomal dominant omodysplasia
  851. Autosomal dominant optic atrophy
  852. Autosomal dominant optic atrophy and cataract
  853. Autosomal dominant optic atrophy and congenital deafness
  854. Autosomal dominant optic atrophy plus syndrome
  855. Autosomal dominant optic atrophy, classic form
  856. Autosomal dominant osteopetrosis type 1
  857. Autosomal dominant otospondylomegaepiphyseal dysplasia
  858. Autosomal dominant polycystic kidney disease
  859. Autosomal dominant popliteal pterygium syndrome
  860. Autosomal dominant primary microcephaly
  861. Autosomal dominant prognathism
  862. Autosomal dominant progressive external ophthalmoplegia
  863. Autosomal dominant proximal renal tubular acidosis
  864. Autosomal dominant proximal spinal muscular atrophy
  865. Autosomal dominant pure spastic paraplegia
  866. Autosomal dominant rhegmatogenous retinal detachment
  867. Autosomal dominant Robinow syndrome
  868. Autosomal dominant secondary polycythemia
  869. Autosomal dominant severe congenital neutropenia
  870. Autosomal dominant slowed nerve conduction velocity
  871. Autosomal dominant spastic ataxia
  872. Autosomal dominant spastic ataxia type 1
  873. Autosomal dominant spastic paraplegia type 10
  874. Autosomal dominant spastic paraplegia type 12
  875. Autosomal dominant spastic paraplegia type 13
  876. Autosomal dominant spastic paraplegia type 17
  877. Autosomal dominant spastic paraplegia type 19
  878. Autosomal dominant spastic paraplegia type 29
  879. Autosomal dominant spastic paraplegia type 3
  880. Autosomal dominant spastic paraplegia type 31
  881. Autosomal dominant spastic paraplegia type 36
  882. Autosomal dominant spastic paraplegia type 37
  883. Autosomal dominant spastic paraplegia type 38
  884. Autosomal dominant spastic paraplegia type 4
  885. Autosomal dominant spastic paraplegia type 41
  886. Autosomal dominant spastic paraplegia type 42
  887. Autosomal dominant spastic paraplegia type 6
  888. Autosomal dominant spastic paraplegia type 73
  889. Autosomal dominant spastic paraplegia type 8
  890. Autosomal dominant spastic paraplegia type 80
  891. Autosomal dominant spastic paraplegia type 9A
  892. Autosomal dominant spastic paraplegia type 9B
  893. Autosomal dominant spondylocostal dysostosis
  894. Autosomal dominant striatal neurodegeneration
  895. Autosomal dominant tubulointerstitial kidney disease
  896. Autosomal dominant vitreoretinochoroidopathy
  897. Autosomal erythropoietic protoporphyria
  898. Autosomal ichthyosis syndrome
  899. Autosomal ichthyosis syndrome with fatal disease course
  900. Autosomal ichthyosis syndrome with other associated signs
  901. Autosomal monosomy syndrome
  902. Autosomal non-syndromic agammaglobulinemia
  903. Autosomal recessive ACTN2-related distal myopathy
  904. Autosomal recessive Alport syndrome
  905. Autosomal recessive amelia
  906. Autosomal recessive anterior segment dysgenesis
  907. Autosomal recessive ataxia due to PEX10 deficiency
  908. Autosomal recessive ataxia due to PEX16 deficiency
  909. Autosomal recessive ataxia due to PEX2 deficiency
  910. Autosomal recessive ataxia due to ubiquinone deficiency
  911. Autosomal recessive ataxia, Beauce type
  912. Autosomal recessive axonal neuropathy with neuromyotonia
  913. Autosomal recessive bestrophinopathy
  914. Autosomal recessive brachyolmia
  915. Autosomal recessive carpotarsal osteolysis
  916. Autosomal recessive centronuclear myopathy
  917. Autosomal recessive cerebellar ataxia
  918. Autosomal recessive cerebelloparenchymal disorder type 3
  919. Autosomal recessive cerebral atrophy
  920. Autosomal recessive Charcot-Marie-Tooth disease type 2X
  921. Autosomal recessive chorioretinopathy-microcephaly syndrome
  922. Autosomal recessive complex spastic paraplegia
  923. Autosomal recessive congenital cerebellar ataxia
  924. Autosomal recessive congenital ichthyosis
  925. Autosomal recessive cutis laxa type 1
  926. Autosomal recessive cutis laxa type 2
  927. Autosomal recessive cutis laxa type 2, classic type
  928. Autosomal recessive cutis laxa type 2A
  929. Autosomal recessive cutis laxa type 2B
  930. Autosomal recessive distal hereditary motor neuropathy
  931. Autosomal recessive distal myopathy
  932. Autosomal recessive distal nebulin myopathy
  933. Autosomal recessive distal osteolysis syndrome
  934. Autosomal recessive distal renal tubular acidosis
  935. Autosomal recessive dopa-responsive dystonia
  936. Autosomal recessive Emery-Dreifuss muscular dystrophy
  937. Autosomal recessive epidermolytic ichthyosis
  938. Autosomal recessive extra-oral halitosis
  939. Autosomal recessive faciodigitogenital syndrome
  940. Autosomal recessive frontotemporal pachygyria
  941. Autosomal recessive hereditary chronic pancreatitis
  942. Autosomal recessive hyperinsulinism due to SUR1 deficiency
  943. Autosomal recessive hypohidrotic ectodermal dysplasia
  944. Autosomal recessive hypophosphatemic rickets
  945. Autosomal recessive infantile hypercalcemia
  946. Autosomal recessive isolated optic atrophy
  947. Autosomal recessive Kenny-Caffey syndrome
  948. Autosomal recessive limb-girdle muscular dystrophy
  949. Autosomal recessive malignant osteopetrosis
  950. Autosomal recessive metabolic cerebellar ataxia
  951. Autosomal recessive methemoglobinemia
  952. Autosomal recessive multiple pterygium syndrome
  953. Autosomal recessive myosin storage myopathy
  954. Autosomal recessive nail dysplasia
  955. Autosomal recessive non-syndromic intellectual disability
  956. Autosomal recessive omodysplasia
  957. Autosomal recessive optic atrophy, OPA7 type
  958. Autosomal recessive otospondylomegaepiphyseal dysplasia
  959. Autosomal recessive polycystic kidney disease
  960. Autosomal recessive primary microcephaly
  961. Autosomal recessive progressive external ophthalmoplegia
  962. Autosomal recessive proximal renal tubular acidosis
  963. Autosomal recessive pure spastic paraplegia
  964. Autosomal recessive Robinow syndrome
  965. Autosomal recessive severe congenital neutropenia
  966. Autosomal recessive sideroblastic anemia
  967. Autosomal recessive spastic ataxia
  968. Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  969. Autosomal recessive spastic paraplegia type 11
  970. Autosomal recessive spastic paraplegia type 14
  971. Autosomal recessive spastic paraplegia type 20
  972. Autosomal recessive spastic paraplegia type 21
  973. Autosomal recessive spastic paraplegia type 23
  974. Autosomal recessive spastic paraplegia type 24
  975. Autosomal recessive spastic paraplegia type 25
  976. Autosomal recessive spastic paraplegia type 26
  977. Autosomal recessive spastic paraplegia type 27
  978. Autosomal recessive spastic paraplegia type 28
  979. Autosomal recessive spastic paraplegia type 32
  980. Autosomal recessive spastic paraplegia type 35
  981. Autosomal recessive spastic paraplegia type 39
  982. Autosomal recessive spastic paraplegia type 43
  983. Autosomal recessive spastic paraplegia type 44
  984. Autosomal recessive spastic paraplegia type 45
  985. Autosomal recessive spastic paraplegia type 46
  986. Autosomal recessive spastic paraplegia type 48
  987. Autosomal recessive spastic paraplegia type 53
  988. Autosomal recessive spastic paraplegia type 54
  989. Autosomal recessive spastic paraplegia type 55
  990. Autosomal recessive spastic paraplegia type 56
  991. Autosomal recessive spastic paraplegia type 57
  992. Autosomal recessive spastic paraplegia type 59
  993. Autosomal recessive spastic paraplegia type 5A
  994. Autosomal recessive spastic paraplegia type 60
  995. Autosomal recessive spastic paraplegia type 61
  996. Autosomal recessive spastic paraplegia type 62
  997. Autosomal recessive spastic paraplegia type 63
  998. Autosomal recessive spastic paraplegia type 64
  999. Autosomal recessive spastic paraplegia type 66
  1000. Autosomal recessive spastic paraplegia type 67
  1001. Autosomal recessive spastic paraplegia type 68
  1002. Autosomal recessive spastic paraplegia type 69
  1003. Autosomal recessive spastic paraplegia type 70
  1004. Autosomal recessive spastic paraplegia type 71
  1005. Autosomal recessive spastic paraplegia type 74
  1006. Autosomal recessive spastic paraplegia type 75
  1007. Autosomal recessive spastic paraplegia type 76
  1008. Autosomal recessive spastic paraplegia type 77
  1009. Autosomal recessive spastic paraplegia type 78
  1010. Autosomal recessive spastic paraplegia type 82
  1011. Autosomal recessive spastic paraplegia type 83
  1012. Autosomal recessive spastic paraplegia type 84
  1013. Autosomal recessive spastic paraplegia type 85
  1014. Autosomal recessive spastic paraplegia type 86
  1015. Autosomal recessive spastic paraplegia type 87
  1016. Autosomal recessive spastic paraplegia type 9B
  1017. Autosomal recessive spondylocostal dysostosis
  1018. Autosomal recessive Stickler syndrome
  1019. Autosomal recessive syndromic cerebellar ataxia
  1020. Autosomal semi-dominant severe lipodystrophic laminopathy
  1021. Autosomal spastic paraplegia type 18
  1022. Autosomal spastic paraplegia type 30
  1023. Autosomal spastic paraplegia type 58
  1024. Autosomal spastic paraplegia type 72
  1025. Autosomal systemic lupus erythematosus
  1026. Autosomal thrombocytopenia with normal platelets
  1027. Autosomal trisomy syndrome
  1028. Autosomal uniparental disomy syndrome
  1029. Avascular necrosis
  1030. Avascular necrosis of genetic origin
  1031. Avian influenza
  1032. Axenfeld anomaly
  1033. Axenfeld-Rieger syndrome
  1034. Axial mesodermal dysplasia spectrum
  1035. Axial spondylometaphyseal dysplasia
  1036. AXIN2-related polyposis
  1037. Axonal hereditary motor and sensory neuropathy
  1038. Ayme-Gripp syndrome
  1039. Azygos continuation of the inferior vena cava
  1040. B-cell chronic lymphocytic leukemia
  1041. B-cell non-Hodgkin lymphoma
  1042. B-cell prolymphocytic leukemia
  1043. B-lymphoblastic leukemia/lymphoma with hyperdiploidy
  1044. B-lymphoblastic leukemia/lymphoma with hypodiploidy
  1045. B-lymphoblastic leukemia/lymphoma with t(17;19)
  1046. B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
  1047. B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
  1048. B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
  1049. B4GALT1-CDG
  1050. B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
  1051. Babesiosis
  1052. Bacterial myositis
  1053. Bacterial toxic-shock syndrome
  1054. BAG3-related myofibrillar myopathy
  1055. Bainbridge-Ropers syndrome
  1056. Balantidiasis
  1057. Balint syndrome
  1058. Ballard syndrome
  1059. Baller-Gerold syndrome
  1060. Balo concentric sclerosis
  1061. Bamforth-Lazarus syndrome
  1062. Bangstad syndrome
  1063. Banki syndrome
  1064. Bannayan-Riley-Ruvalcaba syndrome
  1065. BAP1-related tumor predisposition syndrome
  1066. Baraitser-Winter cerebrofrontofacial syndrome
  1067. Barber-Say syndrome
  1068. Bardet-Biedl syndrome
  1069. Baroreflex failure
  1070. Barth syndrome
  1071. Bartonella bacilliformis infection
  1072. Bartsocas-Papas syndrome
  1073. Bartter syndrome
  1074. Bartter syndrome type 1
  1075. Bartter syndrome type 2
  1076. Bartter syndrome type 3
  1077. Bartter syndrome type 4
  1078. Bartter syndrome type 5
  1079. Bartter syndrome with hypocalcemia
  1080. Basal encephalocele
  1081. Basel-Vanagaite-Smirin-Yosef syndrome
  1082. Bathing suit ichthyosis
  1083. Bazex syndrome
  1084. Bazex-Dupre-Christol syndrome
  1085. Becker muscular dystrophy
  1086. Becker nevus syndrome
  1087. Beckwith-Wiedemann syndrome
  1088. Beckwith-Wiedemann syndrome due to 11p15 microdeletion
  1089. Beckwith-Wiedemann syndrome due to 11p15 microduplication
  1090. Beckwith-Wiedemann syndrome due to CDKN1C mutation
  1091. Beemer-Ertbruggen syndrome
  1092. Behavioral variant of frontotemporal dementia
  1093. Behcet disease
  1094. Behçet’s disease
  1095. Behr syndrome
  1096. Bencze syndrome
  1097. Benign atrophic papulosis
  1098. Benign cephalic histiocytosis
  1099. Benign concentric annular macular dystrophy
  1100. Benign epithelial tumor of salivary glands
  1101. Benign focal seizures of adolescence
  1102. Benign hereditary chorea
  1103. Benign idiopathic neonatal seizures
  1104. Benign metanephric tumor
  1105. Benign nocturnal alternating hemiplegia of childhood
  1106. Benign non-familial infantile seizures
  1107. Benign paroxysmal tonic upgaze of childhood with ataxia
  1108. Benign paroxysmal torticollis of infancy
  1109. Benign partial infantile seizures
  1110. Benign peripheral nerve sheath tumor
  1111. Benign recurrent intrahepatic cholestasis
  1112. Benign recurrent intrahepatic cholestasis type 1
  1113. Benign recurrent intrahepatic cholestasis type 2
  1114. Benign Samaritan congenital myopathy
  1115. Benign schwannoma
  1116. Benign tumor of fallopian tubes
  1117. Benign vascular tumor
  1118. BENTA disease
  1119. Bernard-Soulier syndrome
  1120. Best vitelliform macular dystrophy
  1121. Beta-ketothiolase deficiency
  1122. Beta-mannosidosis
  1123. Beta-mercaptolactate cysteine disulfiduria
  1124. Beta-propeller protein-associated neurodegeneration
  1125. Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
  1126. Beta-thalassemia
  1127. Beta-thalassemia and related disorders
  1128. Beta-thalassemia intermedia
  1129. Beta-thalassemia major
  1130. Beta-thalassemia-trichothiodystrophy syndrome
  1131. Beta-thalassemia-X-linked thrombocytopenia syndrome
  1132. Beta-ureidopropionase deficiency
  1133. Bethlem muscular dystrophy
  1134. Bicervical bicornuate uterus and blind hemivagina
  1135. Bickerstaff brainstem encephalitis
  1136. Bicornuate uterus
  1137. BIDS syndrome
  1138. Biemond syndrome type 2
  1139. Bietti crystalline dystrophy
  1140. Bifid nose
  1141. Bifid uvula
  1142. Bifunctional enzyme deficiency
  1143. Bilateral acute depigmentation of the iris
  1144. Bilateral diffuse uveal melanocytic proliferation disease
  1145. Bilateral frontal polymicrogyria
  1146. Bilateral frontoparietal polymicrogyria
  1147. Bilateral generalized polymicrogyria
  1148. Bilateral massive adrenal hemorrhage
  1149. Bilateral microtia-deafness-cleft palate syndrome
  1150. Bilateral multicystic dysplastic kidney
  1151. Bilateral parasagittal parieto-occipital polymicrogyria
  1152. Bilateral perisylvian polymicrogyria
  1153. Bilateral polymicrogyria
  1154. Bilateral striopallidodentate calcinosis
  1155. Bile acid CoA ligase deficiency and defective amidation
  1156. Bile acid malabsorption
  1157. Biliary atresia and associated disorders
  1158. Biliary atresia with splenic malformation syndrome
  1159. Biliary cystadenocarcinoma
  1160. Biliary tract malformation-renal failure syndrome
  1161. Bilineal acute leukemia
  1162. Bilirubin encephalopathy
  1163. Biological anomaly without phenotypic characterization
  1164. Biotin-thiamine-responsive basal ganglia disease
  1165. Biotinidase deficiency
  1166. Bipartite talus
  1167. Bipolar disorder
  1168. Birdshot chorioretinopathy
  1169. Birk-Barel syndrome
  1170. Birt-Hogg-Dube syndrome
  1171. Bjornstad syndrome
  1172. Blake pouch cyst
  1173. Blastic plasmacytoid dendritic cell neoplasm
  1174. Blau syndrome
  1175. Bleeding diathesis due to a collagen receptor defect
  1176. Bleeding diathesis due to glycoprotein VI deficiency
  1177. Bleeding diathesis due to integrin alpha2-beta1 deficiency
  1178. Bleeding disorder due to CalDAG-GEFI deficiency
  1179. Bleeding disorder due to P2Y12 defect
  1180. Bleeding disorder in hemophilia A carriers
  1181. Bleeding disorder in hemophilia B carriers
  1182. Blepharo-cheilo-odontic syndrome
  1183. Blepharofacioskeletal syndrome
  1184. Blepharonasofacial malformation syndrome
  1185. Blepharophimosis-intellectual disability syndrome
  1186. Blepharophimosis-ptosis-epicanthus inversus syndrome
  1187. Blepharophimosis-ptosis-epicanthus inversus syndrome plus
  1188. Blepharoptosis-myopia-ectopia lentis syndrome
  1189. Blepharospasm-oromandibular dystonia syndrome
  1190. Blindness-scoliosis-arachnodactyly syndrome
  1191. Blomstrand lethal chondrodysplasia
  1192. Blood cancer
  1193. Blood clots (DVT or PE)
  1194. Bloom syndrome
  1195. Blount disease
  1196. Blue cone monochromatism
  1197. Blue diaper syndrome
  1198. Blue rubber bleb nevus
  1199. BNAR syndrome
  1200. Body integrity dysphoria
  1201. Bohring-Opitz syndrome
  1202. Bolivian hemorrhagic fever
  1203. Bone dysplasia, lethal Holmgren type
  1204. Bone sarcoma
  1205. Bonnemann-Meinecke-Reich syndrome
  1206. Book syndrome
  1207. Boomerang dysplasia
  1208. BOR syndrome
  1209. Borderline personality disorder
  1210. Borderline vascular tumor
  1211. Borjeson-Forssman-Lehmann syndrome
  1212. Borna virus encephalitis
  1213. Bosley-Salih-Alorainy syndrome
  1214. Bothnia retinal dystrophy
  1215. Botulism
  1216. Boutonneuse fever
  1217. Bowel cancer
  1218. Bowen syndrome
  1219. Bowen-Conradi syndrome
  1220. Brachydactylous dwarfism, Mseleni type
  1221. Brachydactyly type A1
  1222. Brachydactyly type A2
  1223. Brachydactyly type A4
  1224. Brachydactyly type A5
  1225. Brachydactyly type A6
  1226. Brachydactyly type A7
  1227. Brachydactyly type B
  1228. Brachydactyly type B1
  1229. Brachydactyly type B2
  1230. Brachydactyly type C
  1231. Brachydactyly type E
  1232. Brachydactyly-arterial hypertension syndrome
  1233. Brachydactyly-elbow wrist dysplasia syndrome
  1234. Brachydactyly-long thumb syndrome
  1235. Brachydactyly-nystagmus-cerebellar ataxia syndrome
  1236. Brachydactyly-preaxial hallux varus syndrome
  1237. Brachydactyly-short stature-retinitis pigmentosa syndrome
  1238. Brachydactyly-syndactyly, Zhao type
  1239. Brachymorphism-onychodysplasia-dysphalangism syndrome
  1240. Brachyolmia
  1241. Brachyolmia type 1, Hobaek type
  1242. Brachyolmia type 1, Toledo type
  1243. Brachyolmia, Maroteaux type
  1244. Brachyolmia-amelogenesis imperfecta syndrome
  1245. Brachytelephalangic chondrodysplasia punctata
  1246. Brachytelephalangy-dysmorphism-Kallmann syndrome
  1247. Braddock syndrome
  1248. Braddock-Carey syndrome
  1249. Bradyopsia
  1250. Brain arteriovenous malformation
  1251. Brain dopamine-serotonin vesicular transport disease
  1252. Brain inflammatory disease
  1253. Brain pial arteriovenous fistula
  1254. Brain-lung-thyroid syndrome
  1255. Branchial arch or oral-acral syndrome
  1256. Branchio-oculo-facial syndrome
  1257. Branchiogenic deafness syndrome
  1258. Branchiootic syndrome
  1259. Branchioskeletogenital syndrome
  1260. Brazilian hemorrhagic fever
  1261. Breast cancer
  1262. Breast implant-associated anaplastic large cell lymphoma
  1263. BRESEK syndrome
  1264. Brill-Zinsser disease
  1265. Brittle cornea syndrome
  1266. Brittle hair syndrome, Sabinas type
  1267. Brody myopathy
  1268. Bronchial malformation
  1269. Bronchial neuroendocrine tumor
  1270. Bronchiectasis
  1271. Bronchiectasis-oligospermia syndrome
  1272. Bronchiolitis obliterans
  1273. Bronchogenic cyst
  1274. Bronchopulmonary dysplasia
  1275. Brooke-Spiegler syndrome
  1276. Brucellosis
  1277. Bruck syndrome
  1278. Brugada syndrome
  1279. Budd-Chiari syndrome
  1280. Buerger disease
  1281. Bulbospinal muscular atrophy
  1282. Bulbospinal muscular atrophy of adult
  1283. Bulbospinal muscular atrophy of childhood
  1284. Bullous diffuse cutaneous mastocytosis
  1285. Bullous impetigo
  1286. Bullous lichen planus
  1287. Bullous pemphigoid
  1288. Bullous pyoderma gangrenosum
  1289. Burkitt lymphoma
  1290. Burn-McKeown syndrome
  1291. Burning mouth syndrome
  1292. Butterfly-shaped pigment dystrophy
  1293. BVES-related limb-girdle muscular dystrophy
  1294. C syndrome
  1295. C3 deposition glomerulonephritis without proliferation
  1296. C3 glomerulonephritis
  1297. C3 glomerulopathy
  1298. CACH syndrome
  1299. CAD-CDG
  1300. CADDS
  1301. CADINS disease
  1302. Caffey disease
  1303. Calcifying aponeurotic fibroma
  1304. Calciphylaxis
  1305. Calciphylaxis cutis
  1306. Calpain-3-related limb-girdle muscular dystrophy D4
  1307. Calpain-3-related limb-girdle muscular dystrophy R1
  1308. Calvarial doughnut lesions-bone fragility syndrome
  1309. CAMFAK syndrome
  1310. CAMOS syndrome
  1311. Campomelia, Cumming type
  1312. Campomelic dysplasia
  1313. Campomelic dysplasia and related disorders
  1314. Camptobrachydactyly
  1315. Camptodactyly of fingers
  1316. Camptodactyly syndrome, Guadalajara type 1
  1317. Camptodactyly syndrome, Guadalajara type 2
  1318. Camptodactyly syndrome, Guadalajara type 3
  1319. Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
  1320. Camptodactyly-tall stature-scoliosis-hearing loss syndrome
  1321. Camptodactyly-taurinuria syndrome
  1322. Camurati-Engelmann disease
  1323. Canavan disease
  1324. Cancer
  1325. Cancer of unknown primary site
  1326. Cancer-associated retinopathy
  1327. CANDLE syndrome
  1328. CANOMAD syndrome
  1329. Cantu syndrome
  1330. Cap myopathy
  1331. Cap polyposis
  1332. Capillary malformation-arteriovenous malformation
  1333. Capillary-lymphatic malformation
  1334. Capillary-lymphatic-venous malformation
  1335. Capillary-venous malformation
  1336. CAR T cell therapy-associated cytokine release syndrome
  1337. Carbamoyl-phosphate synthetase 1 deficiency
  1338. Carcinofibroma of the corpus uteri
  1339. Carcinoid syndrome
  1340. Carcinoma of esophagus
  1341. Carcinoma of esophagus, salivary gland type
  1342. Carcinoma of gallbladder and extrahepatic biliary tract
  1343. Carcinoma of liver and intrahepatic biliary tract
  1344. Carcinoma of the ampulla of Vater
  1345. Carcinoma of the anal canal
  1346. Carcinosarcoma of the cervix uteri
  1347. Carcinosarcoma of the corpus uteri
  1348. CARD8-related inflammatory bowel disease
  1349. Cardiac anomalies-heterotaxy syndrome
  1350. Cardiac diverticulum
  1351. Cardiac-urogenital syndrome
  1352. Cardiac-valvular Ehlers-Danlos syndrome
  1353. Cardiocranial syndrome, Pfeiffer type
  1354. Cardiofaciocutaneous syndrome
  1355. Cardiogenic shock
  1356. Cardiomyopathy
  1357. Cardiomyopathy-cataract-hip spine disease syndrome
  1358. Cardiomyopathy-hypotonia-lactic acidosis syndrome
  1359. Cardiospondylocarpofacial syndrome
  1360. Carey-Fineman-Ziter syndrome
  1361. Caribbean parkinsonism
  1362. Carnevale syndrome
  1363. Carney complex
  1364. Carney complex-trismus-pseudocamptodactyly syndrome
  1365. Carney triad
  1366. Carney-Stratakis syndrome
  1367. Carnitine palmitoyl transferase 1A deficiency
  1368. Carnitine palmitoyltransferase II deficiency
  1369. Carnitine-acylcarnitine translocase deficiency
  1370. Carnosinase deficiency
  1371. Caroli disease
  1372. Caroli syndrome
  1373. Carotid web
  1374. Carpal tunnel syndrome
  1375. Carpenter syndrome
  1376. Carpenter-Waziri syndrome
  1377. Carpotarsal osteochondromatosis
  1378. Cartilage-hair hypoplasia
  1379. Carvajal syndrome
  1380. Castleman disease
  1381. Cat-eye syndrome
  1382. Cat-scratch disease
  1383. Cataract-aberrant oral frenula-growth delay syndrome
  1384. Cataract-ataxia-deafness syndrome
  1385. Cataract-deafness-hypogonadism syndrome
  1386. Cataract-hypertrichosis-intellectual disability syndrome
  1387. Cataract-intellectual disability-hypogonadism syndrome
  1388. Cataract-microcornea syndrome
  1389. Cataract-nephropathy-encephalopathy syndrome
  1390. Catastrophic antiphospholipid syndrome
  1391. Catecholaminergic polymorphic ventricular tachycardia
  1392. Catel-Manzke syndrome
  1393. Caudal appendage-deafness syndrome
  1394. Caudal duplication
  1395. Caudal regression syndrome
  1396. Caudal regression-sirenomelia spectrum
  1397. Cavitary myiasis
  1398. CCDC115-CDG
  1399. CDKL5-deficiency disorder
  1400. CEDNIK syndrome
  1401. Celiac artery compression syndrome
  1402. Celiac disease-epilepsy-cerebral calcification syndrome
  1403. CELSR1-related late-onset primary lymphedema
  1404. Cenani-Lenz syndrome
  1405. Central areolar choroidal dystrophy
  1406. Central bilateral macrogyria
  1407. Central cloudy dystrophy of Francois
  1408. Central congenital hypothyroidism
  1409. Central core disease
  1410. Central discoid corneal dystrophy
  1411. Central giant cell granuloma
  1412. Central nervous system cystic malformation
  1413. Central nervous system embryonal tumor
  1414. Central nervous system malformation
  1415. Central nervous system tuberculosis
  1416. Central neurocytoma
  1417. Central polydactyly
  1418. Central precocious puberty in male
  1419. Central retinal artery occlusion
  1420. Central retinal vein occlusion
  1421. Central serous chorioretinopathy
  1422. Centrifugal lipodystrophy
  1423. Centronuclear myopathy
  1424. Cephalocele
  1425. Cerebellar ataxia with peripheral neuropathy
  1426. Cerebellar ataxia, Cayman type
  1427. Cerebellar ataxia-ectodermal dysplasia syndrome
  1428. Cerebellar ataxia-hypogonadism syndrome
  1429. Cerebellar hypoplasia-tapetoretinal degeneration syndrome
  1430. Cerebellar liponeurocytoma
  1431. Cerebellar malformation
  1432. Cerebellar-facial-dental syndrome
  1433. Cerebral cortical dysplasia
  1434. Cerebral diseases of vascular origin with epilepsy
  1435. Cerebral gigantism-jaw cysts syndrome
  1436. Cerebral lipidosis with dementia
  1437. Cerebral malformation with epilepsy
  1438. Cerebral organic aciduria
  1439. Cerebral palsy
  1440. Cerebral proliferative angiopathy
  1441. Cerebral sinovenous thrombosis
  1442. Cerebral visual impairment
  1443. Cerebro-oculo-facial-lymphatic syndrome
  1444. Cerebrocostomandibular syndrome
  1445. Cerebrofacial arteriovenous metameric syndrome
  1446. Cerebrofacioarticular syndrome
  1447. Cerebrofaciothoracic dysplasia
  1448. Cerebrooculonasal syndrome
  1449. Cerebroretinal vasculopathy
  1450. Cerebrotendinous xanthomatosis
  1451. Cernunnos-XLF deficiency
  1452. Cerulean cataract
  1453. Cervical aortic arch
  1454. Cervical dermoid cyst
  1455. Cervical hypertrichosis-peripheral neuropathy syndrome
  1456. Cervicofacial fibrochondroma
  1457. CHAND syndrome
  1458. Chandler syndrome
  1459. Channelopathy with epilepsy
  1460. Chaotic conus spinal cord lipoma
  1461. Chapare hemorrhagic fever
  1462. Char syndrome
  1463. Charcot-Marie-Tooth disease
  1464. Charcot-Marie-Tooth disease type 1
  1465. Charcot-Marie-Tooth disease type 1A
  1466. Charcot-Marie-Tooth disease type 1B
  1467. Charcot-Marie-Tooth disease type 1C
  1468. Charcot-Marie-Tooth disease type 1D
  1469. Charcot-Marie-Tooth disease type 1E
  1470. Charcot-Marie-Tooth disease type 1F
  1471. Charcot-Marie-Tooth disease type 2B1
  1472. Charcot-Marie-Tooth disease type 2B2
  1473. Charcot-Marie-Tooth disease type 2B5
  1474. Charcot-Marie-Tooth disease type 2H
  1475. Charcot-Marie-Tooth disease type 2P
  1476. Charcot-Marie-Tooth disease type 2R
  1477. Charcot-Marie-Tooth disease type 2S
  1478. Charcot-Marie-Tooth disease type 2T
  1479. Charcot-Marie-Tooth disease type 4
  1480. Charcot-Marie-Tooth disease type 4A
  1481. Charcot-Marie-Tooth disease type 4B1
  1482. Charcot-Marie-Tooth disease type 4B2
  1483. Charcot-Marie-Tooth disease type 4B3
  1484. Charcot-Marie-Tooth disease type 4C
  1485. Charcot-Marie-Tooth disease type 4D
  1486. Charcot-Marie-Tooth disease type 4E
  1487. Charcot-Marie-Tooth disease type 4F
  1488. Charcot-Marie-Tooth disease type 4G
  1489. Charcot-Marie-Tooth disease type 4H
  1490. Charcot-Marie-Tooth disease type 4J
  1491. CHARGE syndrome
  1492. Charlie M syndrome
  1493. CHD4-related neurodevelopmental disorder
  1494. CHD8 overgrowth syndrome
  1495. Chediak-Higashi syndrome
  1496. Cheilitis glandularis
  1497. Cheirospondyloenchondromatosis
  1498. Cherubism
  1499. Chiari malformation
  1500. Chikungunya
  1501. Chilblain lupus
  1502. CHILD syndrome
  1503. Childhood absence epilepsy
  1504. Childhood disintegrative disorder
  1505. Childhood occipital visual epilepsy
  1506. Childhood-onset basal ganglia degeneration syndrome
  1507. Childhood-onset benign chorea with striatal involvement
  1508. Childhood-onset epilepsy syndrome
  1509. Childhood-onset hypophosphatasia
  1510. Childhood-onset nemaline myopathy
  1511. Childhood-onset schizophrenia
  1512. Childhood-onset spasticity with hyperglycinemia
  1513. Childhood-onset Steinert myotonic dystrophy
  1514. CHIME syndrome
  1515. Choanal atresia
  1516. Choanal atresia, bilateral
  1517. Choanal atresia, unilateral
  1518. Cholangiocarcinoma
  1519. Choledochal cyst
  1520. Cholera
  1521. Cholestasis-lymphedema syndrome
  1522. Cholesteryl ester storage disease
  1523. Chondrodysplasia punctata
  1524. Chondrodysplasia punctata, tibial-metacarpal type
  1525. Chondrodysplasia punctata, Toriello type
  1526. Chondrodysplasia with joint dislocations, gPAPP type
  1527. Chondrodysplasia-difference of sex development syndrome
  1528. Chondroectodermal dysplasia with night blindness
  1529. Chondromyxoid fibroma
  1530. Chondrosarcoma
  1531. Chordoid glioma
  1532. Chordoma
  1533. Choreoacanthocytosis
  1534. Choriocarcinoma of the central nervous system
  1535. Choroid plexus carcinoma
  1536. Choroid plexus tumor
  1537. Choroidal atrophy-alopecia syndrome
  1538. Choroidal osteoma
  1539. Choroideremia
  1540. Christianson syndrome
  1541. Chromomycosis
  1542. Chromophobe renal cell carcinoma
  1543. Chromosomal anomaly with cataract
  1544. Chromosomal anomaly with epilepsy as a major feature
  1545. Chromosomal disease with overgrowth
  1546. Chromosome X structural anomaly syndrome
  1547. Chromosome Y microdeletion syndrome
  1548. Chromosome Y structural anomaly syndrome
  1549. Chronic acquired demyelinating polyneuropathy
  1550. Chronic actinic dermatitis
  1551. Chronic atrial and intestinal dysrhythmia syndrome
  1552. Chronic back pain
  1553. Chronic beryllium disease
  1554. Chronic bilirubin encephalopathy
  1555. Chronic constipation
  1556. Chronic cutaneous lupus erythematosus
  1557. Chronic daily headache
  1558. Chronic diarrhea due to glucoamylase deficiency
  1559. Chronic diarrhea with villous atrophy
  1560. Chronic dizziness
  1561. Chronic EBV
  1562. Chronic encephalitis
  1563. Chronic endophthalmitis
  1564. Chronic enteropathy associated with SLCO2A1 gene
  1565. Chronic eosinophilic leukemia
  1566. Chronic Epstein-Barr virus infection syndrome
  1567. Chronic fatigue
  1568. Chronic graft versus host disease
  1569. Chronic granulomatous disease
  1570. Chronic hiccup
  1571. Chronic hives
  1572. Chronic inflammatory demyelinating polyneuropathy
  1573. Chronic intervillositis of unknown etiology
  1574. Chronic intestinal failure
  1575. Chronic intestinal pseudoobstruction syndrome
  1576. Chronic kidney disease
  1577. Chronic mast cell leukemia
  1578. Chronic migraine
  1579. Chronic mucocutaneous candidiasis
  1580. Chronic myeloid leukemia
  1581. Chronic myelomonocytic leukemia
  1582. Chronic myeloproliferative disease, unclassifiable
  1583. Chronic neck pain
  1584. Chronic neurovisceral acid sphingomyelinase deficiency
  1585. Chronic neutrophilic leukemia
  1586. Chronic pain
  1587. Chronic pancreatitis
  1588. Chronic pneumonitis of infancy
  1589. Chronic polyradiculoneuropathy
  1590. Chronic primary adrenal insufficiency
  1591. Chronic relapsing inflammatory optic neuritis
  1592. Chronic sinusitis
  1593. Chronic tendinopathy
  1594. Chronic thromboembolic pulmonary hypertension
  1595. Chronic visceral acid sphingomyelinase deficiency
  1596. CHST3-related skeletal dysplasia
  1597. Chudley-Lowry-Hoar syndrome
  1598. Chudley-McCullough syndrome
  1599. Chuvash erythrocytosis
  1600. Chylomicron retention disease
  1601. Chylous ascites
  1602. CIDEC-related familial partial lipodystrophy
  1603. CIDP
  1604. Ciliopathies with major skeletal involvement
  1605. Ciliopathy
  1606. CINCA syndrome
  1607. Circadian rhythm disorder
  1608. Circumscribed astrocytic glioma
  1609. Circumscribed choroidal hemangioma
  1610. Circumscribed palmoplantar hypokeratosis
  1611. Cirrhosis
  1612. Citrin deficiency
  1613. Citrullinemia
  1614. Citrullinemia type I
  1615. Citrullinemia type II
  1616. CK syndrome
  1617. CLAPO syndrome
  1618. Clark-Baraitser syndrome
  1619. Class I glucose-6-phosphate dehydrogenase deficiency
  1620. Classic bladder exstrophy
  1621. Classic eosinophilic pustular folliculitis
  1622. Classic galactosemia
  1623. Classic glucose transporter type 1 deficiency syndrome
  1624. Classic hairy cell leukemia
  1625. Classic heparin-induced thrombocytopenia
  1626. Classic Hodgkin lymphoma
  1627. Classic Hodgkin lymphoma, lymphocyte-depleted type
  1628. Classic Hodgkin lymphoma, lymphocyte-rich type
  1629. Classic Hodgkin lymphoma, mixed cellularity type
  1630. Classic Hodgkin lymphoma, nodular sclerosis type
  1631. Classic lissencephaly
  1632. Classic maple syrup urine disease
  1633. Classic medulloblastoma
  1634. Classic multiminicore myopathy
  1635. Classic mycosis fungoides
  1636. Classic neuroendocrine tumor of appendix
  1637. Classic organic aciduria
  1638. Classic pantothenate kinase-associated neurodegeneration
  1639. Classic phenylketonuria
  1640. Classic pilocytic astrocytoma
  1641. Classic progressive supranuclear palsy syndrome
  1642. Classic pyoderma gangrenosum
  1643. Classic stiff person syndrome
  1644. Classical dermatomyositis
  1645. Classical Ehlers-Danlos syndrome
  1646. Classical-like Ehlers-Danlos syndrome type 1
  1647. Classical-like Ehlers-Danlos syndrome type 2
  1648. CLCN4-related X-linked intellectual disability syndrome
  1649. Clear cell adenocarcinoma of the ovary
  1650. Clear cell papillary renal cell carcinoma
  1651. Clear cell renal carcinoma
  1652. Clear cell sarcoma of kidney
  1653. Cleft hard palate
  1654. Cleft lip and alveolus
  1655. Cleft lip with or without cleft palate
  1656. Cleft lip/palate
  1657. Cleft lip/palate-deafness-sacral lipoma syndrome
  1658. Cleft lip/palate-ectodermal dysplasia syndrome
  1659. Cleft mitral valve
  1660. Cleft palate
  1661. Cleft palate-large ears-small head syndrome
  1662. Cleft palate-lateral synechia syndrome
  1663. Cleft palate-short stature-vertebral anomalies syndrome
  1664. Cleft palate-stapes fixation-oligodontia syndrome
  1665. Cleft velum
  1666. Cleidocranial dysplasia
  1667. Cleidorhizomelic syndrome
  1668. Climatic droplet keratopathy
  1669. CLIPPERS
  1670. CLN1 disease
  1671. CLN10 disease
  1672. CLN11 disease
  1673. CLN12 disease
  1674. CLN13 disease
  1675. CLN14 disease
  1676. CLN2 disease
  1677. CLN3 disease
  1678. CLN4 disease
  1679. CLN5 disease
  1680. CLN6 disease
  1681. CLN7 disease
  1682. CLN8 disease
  1683. Cloacal exstrophy
  1684. Clonorchiasis
  1685. Closed iniencephaly
  1686. Closed spinal dysraphism
  1687. Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
  1688. Cloverleaf skull-multiple congenital anomalies syndrome
  1689. CLOVES syndrome
  1690. Cluster headaches
  1691. Coarctation of aorta
  1692. COASY protein-associated neurodegeneration
  1693. Coats disease
  1694. Coats plus syndrome
  1695. Cobblestone lissencephaly
  1696. Cocaine embryofetopathy
  1697. Cocaine intoxication
  1698. Coccidioidomycosis
  1699. Cochlear nerve deficiency
  1700. Cochleosaccular degeneration-cataract syndrome
  1701. Cochleovestibular malformation
  1702. Cockayne syndrome
  1703. Cockayne syndrome type 1
  1704. Cockayne syndrome type 2
  1705. Cockayne syndrome type 3
  1706. CODAS syndrome
  1707. Coeliac disease
  1708. Coenzyme Q10 deficiency
  1709. Coffin-Lowry syndrome
  1710. Coffin-Siris syndrome
  1711. COFS syndrome
  1712. COG1-CDG
  1713. COG2-CDG
  1714. COG4-CDG
  1715. COG5-CDG
  1716. COG6-CGD
  1717. COG7-CDG
  1718. COG8-CDG
  1719. Cogan syndrome
  1720. Cogan-Reese syndrome
  1721. Cohen syndrome
  1722. Cohen-Gibson syndrome
  1723. COL4A1 or COL4A2-related cerebral small vessel disease
  1724. COL4A1/2-related familial vascular leukoencephalopathy
  1725. Colchicine poisoning
  1726. Cold agglutinin disease
  1727. Cold-induced sweating syndrome
  1728. Cold-induced sweating syndrome-hyperthermia spectrum
  1729. Cole-Carpenter syndrome
  1730. Collagen type III glomerulopathy
  1731. Collagen VI-related congenital muscular dystrophy
  1732. Collagen-related glomerular basement membrane disease
  1733. Collecting duct carcinoma
  1734. Coloboma of choroid and retina
  1735. Coloboma of eye lens
  1736. Coloboma of eyelid
  1737. Coloboma of inferior eyelid
  1738. Coloboma of iris
  1739. Coloboma of macula
  1740. Coloboma of macula-brachydactyly type B syndrome
  1741. Coloboma of optic disc
  1742. Coloboma of superior eyelid
  1743. Colobomatous macrophthalmia-microcornea syndrome
  1744. Colobomatous microphthalmia
  1745. Colobomatous microphthalmia-rhizomelic dysplasia syndrome
  1746. Colonic atresia
  1747. Color-vision disease
  1748. Colorado tick fever
  1749. Combined cervical dystonia
  1750. Combined deficiency of factor V and factor VIII
  1751. Combined deficiency of factor VII and factor X
  1752. Combined dystonia
  1753. Combined hepatocellular carcinoma and cholangiocarcinoma
  1754. Combined immunodeficiency due to c-REL deficiency
  1755. Combined immunodeficiency due to CARD11 deficiency
  1756. Combined immunodeficiency due to CD27 deficiency
  1757. Combined immunodeficiency due to CD3gamma deficiency
  1758. Combined immunodeficiency due to COPG1 deficiency
  1759. Combined immunodeficiency due to CRAC channel dysfunction
  1760. Combined immunodeficiency due to DOCK2 deficiency
  1761. Combined immunodeficiency due to DOCK8 deficiency
  1762. Combined immunodeficiency due to FCHO1 deficiency
  1763. Combined immunodeficiency due to FOXN1 haploinsufficiency
  1764. Combined immunodeficiency due to GINS1 deficiency
  1765. Combined immunodeficiency due to HELIOS deficiency
  1766. Combined immunodeficiency due to IKBKB deficiency
  1767. Combined immunodeficiency due to IL21R deficiency
  1768. Combined immunodeficiency due to ITK deficiency
  1769. Combined immunodeficiency due to LCK deficiency
  1770. Combined immunodeficiency due to MALT1 deficiency
  1771. Combined immunodeficiency due to Moesin deficiency
  1772. Combined immunodeficiency due to ORAI1 deficiency
  1773. Combined immunodeficiency due to OX40 deficiency
  1774. Combined immunodeficiency due to partial RAG1 deficiency
  1775. Combined immunodeficiency due to RELA haploinsufficiency
  1776. Combined immunodeficiency due to RELB deficiency
  1777. Combined immunodeficiency due to STIM1 deficiency
  1778. Combined immunodeficiency due to STK4 deficiency
  1779. Combined immunodeficiency due to TBX1 deficiency
  1780. Combined immunodeficiency due to TFRC deficiency
  1781. Combined immunodeficiency due to ZAP70 deficiency
  1782. Combined immunodeficiency with granulomatosis
  1783. Combined immunodeficiency with low CD4 and normal CD8
  1784. Combined immunodeficiency with low CD8 and normal CD4
  1785. Combined immunodeficiency-multiple intestinal atresia
  1786. Combined malonic and methylmalonic acidemia
  1787. Combined oxidative phosphorylation defect type 11
  1788. Combined oxidative phosphorylation defect type 13
  1789. Combined oxidative phosphorylation defect type 14
  1790. Combined oxidative phosphorylation defect type 15
  1791. Combined oxidative phosphorylation defect type 17
  1792. Combined oxidative phosphorylation defect type 2
  1793. Combined oxidative phosphorylation defect type 20
  1794. Combined oxidative phosphorylation defect type 21
  1795. Combined oxidative phosphorylation defect type 23
  1796. Combined oxidative phosphorylation defect type 24
  1797. Combined oxidative phosphorylation defect type 25
  1798. Combined oxidative phosphorylation defect type 26
  1799. Combined oxidative phosphorylation defect type 27
  1800. Combined oxidative phosphorylation defect type 29
  1801. Combined oxidative phosphorylation defect type 30
  1802. Combined oxidative phosphorylation defect type 39
  1803. Combined oxidative phosphorylation defect type 4
  1804. Combined oxidative phosphorylation defect type 7
  1805. Combined oxidative phosphorylation defect type 8
  1806. Combined oxidative phosphorylation defect type 9
  1807. Combined pancreatic lipase-colipase deficiency
  1808. Combined pituitary hormone deficiencies, genetic forms
  1809. Combined pulmonary fibrosis-emphysema syndrome
  1810. Combined T and B cell immunodeficiency
  1811. Commissural lip fistula
  1812. Common arterial trunk
  1813. Common arterial trunk with aortic dominance
  1814. Common cystic lymphatic malformation
  1815. Common hereditary elliptocytosis
  1816. Common variable immunodeficiency and related disorders
  1817. Complement component 3 deficiency
  1818. Complete androgen insensitivity syndrome
  1819. Complete atrioventricular septal defect
  1820. Complete cryptophthalmia
  1821. Complete hydatidiform mole
  1822. Complete septate uterus
  1823. Complex chromosomal rearrangement syndrome
  1824. Complex hereditary spastic paraplegia
  1825. Complex lethal osteochondrodysplasia
  1826. Complex PTSD
  1827. Complex regional pain syndrome
  1828. Complex regional pain syndrome type 1
  1829. Complex regional pain syndrome type 2
  1830. Complex vascular malformation with associated anomalies
  1831. Complication after organ transplantation
  1832. Complication in hemodialysis
  1833. Composite hemangioendothelioma
  1834. Composite lymphoma
  1835. Conductive deafness-malformed external ear syndrome
  1836. Conductive deafness-ptosis-skeletal anomalies syndrome
  1837. Cone dystrophy with supernormal rod response
  1838. Cone rod dystrophy
  1839. Cone rod dystrophy-short stature syndrome
  1840. Confetti-like macular atrophy
  1841. Congenital abducens nerve palsy
  1842. Congenital achiasma
  1843. Congenital adrenal hyperplasia
  1844. Congenital agenesis of the scrotum
  1845. Congenital alacrima
  1846. Congenital alpha2-antiplasmin deficiency
  1847. Congenital alveolar capillary dysplasia
  1848. Congenital amegakaryocytic thrombocytopenia
  1849. Congenital amyoplasia
  1850. Congenital analbuminemia
  1851. Congenital and infantile nephrotic syndrome
  1852. Congenital anomaly of hepatic vein
  1853. Congenital anomaly of superior vena cava
  1854. Congenital anomaly of the coronary sinus
  1855. Congenital anomaly of the great arteries
  1856. Congenital anomaly of the great veins
  1857. Congenital anomaly of the inferior vena cava
  1858. Congenital anomaly of the tricuspid valve chordae
  1859. Congenital aortic valve atresia
  1860. Congenital aortic valve dysplasia
  1861. Congenital aortic valve stenosis
  1862. Congenital aortopulmonary window
  1863. Congenital atransferrinemia
  1864. Congenital axonal neuropathy with encephalopathy
  1865. Congenital bilateral absence of vas deferens
  1866. Congenital bilateral megacalycosis
  1867. Congenital bile acid synthesis defect
  1868. Congenital bile acid synthesis defect type 1
  1869. Congenital bile acid synthesis defect type 2
  1870. Congenital bile acid synthesis defect type 3
  1871. Congenital bile acid synthesis defect type 4
  1872. Congenital cataract microcornea with corneal opacity
  1873. Congenital cataract-anterior segment dysgenesis syndrome
  1874. Congenital central hypoventilation syndrome
  1875. Congenital cerebellar ataxia due to RNU12 mutation
  1876. Congenital cervical spinal stenosis
  1877. Congenital chloride diarrhea
  1878. Congenital chylothorax
  1879. Congenital CLN10 disease
  1880. Congenital communicating hydrocephalus
  1881. Congenital complete agenesis of pericardium
  1882. Congenital contractural arachnodactyly
  1883. Congenital cornea plana
  1884. Congenital coronary artery aneurysm
  1885. Congenital cystic eye
  1886. Congenital deficiency in alpha-fetoprotein
  1887. Congenital deformities of fingers
  1888. Congenital deformities of limbs
  1889. Congenital diaphragmatic hernia
  1890. Congenital disorder of glycosylation
  1891. Congenital disseminated pyogenic granuloma
  1892. Congenital dyserythropoietic anemia
  1893. Congenital dyserythropoietic anemia type I
  1894. Congenital dyserythropoietic anemia type II
  1895. Congenital dyserythropoietic anemia type III
  1896. Congenital dyserythropoietic anemia type IV
  1897. Congenital ectropion
  1898. Congenital ectropion uveae
  1899. Congenital elbow dislocation, bilateral
  1900. Congenital elbow dislocation, unilateral
  1901. Congenital enterocyte heparan sulfate deficiency
  1902. Congenital enteropathy due to enteropeptidase deficiency
  1903. Congenital enterovirus infection
  1904. Congenital Epstein-Barr virus infection
  1905. Congenital epulis
  1906. Congenital erosive and vesicular dermatosis
  1907. Congenital erythropoietic porphyria
  1908. Congenital esophageal diverticulum
  1909. Congenital esophageal stenosis
  1910. Congenital eyelid retraction
  1911. Congenital factor II deficiency
  1912. Congenital factor V deficiency
  1913. Congenital factor VII deficiency
  1914. Congenital factor X deficiency
  1915. Congenital factor XI deficiency
  1916. Congenital factor XII deficiency
  1917. Congenital factor XIII deficiency
  1918. Congenital fiber-type disproportion myopathy
  1919. Congenital fibrinogen deficiency
  1920. Congenital fibrosis of extraocular muscles
  1921. Congenital functional phagocyte defect
  1922. Congenital generalized hypertrichosis, Ambras type
  1923. Congenital generalized lipodystrophy
  1924. Congenital generalized lipodystrophy type 1
  1925. Congenital generalized lipodystrophy type 2
  1926. Congenital generalized lipodystrophy type 3
  1927. Congenital generalized lipodystrophy type 4
  1928. Congenital genu flexum
  1929. Congenital genu recurvatum
  1930. Congenital Gerbode defect
  1931. Congenital glaucoma
  1932. Congenital glucokinase-related hyperinsulinism
  1933. Congenital heart block
  1934. Congenital hemangioma
  1935. Congenital hereditary endothelial dystrophy type I
  1936. Congenital hereditary endothelial dystrophy type II
  1937. Congenital herpes simplex virus infection
  1938. Congenital high airway obstruction syndrome
  1939. Congenital high-molecular-weight kininogen deficiency
  1940. Congenital Horner syndrome
  1941. Congenital hydrocephalus
  1942. Congenital hyperinsulinism due to HNF4A deficiency
  1943. Congenital hypogonadotropic hypogonadism
  1944. Congenital hypothalamic hamartoma syndrome
  1945. Congenital hypothyroidism
  1946. Congenital hypothyroidism due to developmental anomaly
  1947. Congenital ichthyosiform erythroderma
  1948. Congenital ichthyosis-microcephalus-tetraplegia syndrome
  1949. Congenital infiltrating lipomatosis of the face
  1950. Congenital insensitivity to pain syndrome, Marsili type
  1951. Congenital intestinal disease due to an enzymatic defect
  1952. Congenital intestinal transport defect
  1953. Congenital intrahepatic arterioportal fistula
  1954. Congenital intrinsic factor deficiency
  1955. Congenital isolated ACTH deficiency
  1956. Congenital isolated hyperinsulinism
  1957. Congenital joint dislocations
  1958. Congenital knee dislocation
  1959. Congenital lactase deficiency
  1960. Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  1961. Congenital laryngeal cyst
  1962. Congenital laryngeal palsy
  1963. Congenital laryngomalacia
  1964. Congenital left ventricular aneurysm
  1965. Congenital lethal erythroderma
  1966. Congenital lethal myopathy, Compton-North type
  1967. Congenital limb malformation
  1968. Congenital lobar emphysema
  1969. Congenital long QT syndrome
  1970. Congenital macroglossia
  1971. Congenital malformation of the eyelid
  1972. Congenital megacalycosis
  1973. Congenital megaprepuce
  1974. Congenital mesoblastic nephroma
  1975. Congenital microcoria
  1976. Congenital microgastria
  1977. Congenital midnasal stenosis
  1978. Congenital mitral malformation
  1979. Congenital mitral stenosis
  1980. Congenital mitral valve insufficiency and/or stenosis
  1981. Congenital muscular dystrophy
  1982. Congenital muscular dystrophy due to dystroglycanopathy
  1983. Congenital muscular dystrophy due to LMNA mutation
  1984. Congenital muscular dystrophy type 1B
  1985. Congenital muscular dystrophy type 1C
  1986. Congenital muscular dystrophy type 1D
  1987. Congenital muscular dystrophy with cerebellar involvement
  1988. Congenital muscular dystrophy with hyperlaxity
  1989. Congenital muscular dystrophy, Fukuyama type
  1990. Congenital myasthenic syndrome
  1991. Congenital myasthenic syndrome with glycosylation defect
  1992. Congenital myasthenic syndrome with kinetic defect
  1993. Congenital myasthenic syndrome with mitochondrial defect
  1994. Congenital myopathy
  1995. Congenital myopathy with cores
  1996. Congenital myopathy with excess of thin filaments
  1997. Congenital myopathy with myasthenic-like onset
  1998. Congenital myopathy with reduced type 2 muscle fibers
  1999. Congenital myopathy, Paradas type
  2000. Congenital myotonia
  2001. Congenital nemaline myopathy
  2002. Congenital nephrotic syndrome, Finnish type
  2003. Congenital neutropenia
  2004. Congenital non-communicating hydrocephalus
  2005. Congenital oculomotor nerve palsy
  2006. Congenital optic disc excavation
  2007. Congenital optic disc excavation of genetic origin
  2008. Congenital or early infantile CACH syndrome
  2009. Congenital pancreatic cyst
  2010. Congenital panfollicular nevus
  2011. Congenital partial agenesis of pericardium
  2012. Congenital partial pulmonary venous return anomaly
  2013. Congenital patella dislocation
  2014. Congenital patent ductus arteriosus aneurysm
  2015. Congenital pericardium anomaly
  2016. Congenital peritoneal encapsulation
  2017. Congenital plasminogen activator inhibitor type 1 deficiency
  2018. Congenital portosystemic shunt
  2019. Congenital prekallikrein deficiency
  2020. Congenital primary aphakia
  2021. Congenital primary lymphedema of Gordon
  2022. Congenital primary megaureter
  2023. Congenital primary megaureter, obstructed form
  2024. Congenital primary megaureter, refluxing form
  2025. Congenital pseudoarthrosis of the clavicle
  2026. Congenital pseudoarthrosis of the femur
  2027. Congenital pseudoarthrosis of the fibula
  2028. Congenital pseudoarthrosis of the radius
  2029. Congenital pseudoarthrosis of the tibia
  2030. Congenital pseudoarthrosis of the ulna
  2031. Congenital ptosis
  2032. Congenital pulmonary airway malformation
  2033. Congenital pulmonary airway malformation type 0
  2034. Congenital pulmonary airway malformation type 1
  2035. Congenital pulmonary airway malformation type 2
  2036. Congenital pulmonary airway malformation type 3
  2037. Congenital pulmonary airway malformation type 4
  2038. Congenital pulmonary lymphangiectasia
  2039. Congenital pulmonary sequestration
  2040. Congenital pulmonary valvar stenosis
  2041. Congenital pulmonary vein atresia
  2042. Congenital pulmonary veins anomaly
  2043. Congenital pulmonary veins atresia or stenosis
  2044. Congenital pulmonary venous return anomaly
  2045. Congenital renal artery stenosis
  2046. Congenital respiratory-biliary fistula
  2047. Congenital reticular ichthyosiform erythroderma
  2048. Congenital retinal arteriovenous communication
  2049. Congenital rubella syndrome
  2050. Congenital secondary polycythemia
  2051. Congenital short bowel syndrome
  2052. Congenital short QT syndrome
  2053. Congenital sialidosis type 2
  2054. Congenital smooth muscle hamartoma
  2055. Congenital sodium diarrhea
  2056. Congenital stationary night blindness
  2057. Congenital stationary night blindness, Riggs type
  2058. Congenital stenosis of the inferior vena cava
  2059. Congenital stromal corneal dystrophy
  2060. Congenital subglottic stenosis
  2061. Congenital sucrase-isomaltase deficiency
  2062. Congenital supravalvular mitral ring
  2063. Congenital symblepharon
  2064. Congenital syphilis
  2065. Congenital systemic veins anomaly
  2066. Congenital temporomandibular joint ankylosis
  2067. Congenital thrombotic thrombocytopenic purpura
  2068. Congenital thyroid malformation without hypothyroidism
  2069. Congenital total pulmonary venous return anomaly
  2070. Congenital toxoplasmosis
  2071. Congenital tracheal stenosis
  2072. Congenital tracheomalacia
  2073. Congenital tricuspid malformation
  2074. Congenital tricuspid stenosis
  2075. Congenital tricuspid valve dysplasia
  2076. Congenital trigeminal anesthesia
  2077. Congenital trochlear nerve palsy
  2078. Congenital tufting enteropathy
  2079. Congenital unguarded mitral orifice
  2080. Congenital unilateral hypoplasia of depressor anguli oris
  2081. Congenital urachal anomaly
  2082. Congenital varicella syndrome
  2083. Congenital vascular bone syndrome
  2084. Congenital velopharyngeal incompetence
  2085. Congenital vertebral-cardiac-renal anomalies syndrome
  2086. Congenital vertical talus
  2087. Congenital vertical talus, bilateral
  2088. Congenital vertical talus, unilateral
  2089. Congenital-onset Steinert myotonic dystrophy
  2090. Congenitally short costocoracoid ligament
  2091. Congenitally uncorrected transposition of the great arteries
  2092. Conjoined twins
  2093. Conjunctival malignant melanoma
  2094. Connective tissue dysplasia, Spellacy type
  2095. Cono-spondylar dysplasia
  2096. Conotruncal heart malformations
  2097. Constitutional anemia due to iron metabolism disorder
  2098. Constitutional deficiency anemia
  2099. Constitutional dyserythropoietic anemia
  2100. Constitutional hemolytic anemia due to acanthocytosis
  2101. Constitutional mismatch repair deficiency syndrome
  2102. Constitutional sideroblastic anemia
  2103. Contractures-developmental delay-Pierre Robin syndrome
  2104. Contractures-ectodermal dysplasia-cleft lip/palate syndrome
  2105. Conus spinal cord lipoma
  2106. Cooks syndrome
  2107. Cooper-Jabs syndrome
  2108. COPD
  2109. COQ7-related distal hereditary motor neuropathy
  2110. Cor triatriatum dexter
  2111. Cor triatriatum sinister
  2112. Coralliform cataract
  2113. Corneal dystrophy
  2114. Corneal dystrophy-perceptive deafness syndrome
  2115. Corneal endotheliitis
  2116. Cornelia de Lange syndrome
  2117. Corneodermatoosseous syndrome
  2118. Corneodysgenesis
  2119. Coronary arterial fistula
  2120. Coronary artery congenital malformation
  2121. Coronary ostial stenosis or atresia
  2122. Coronary sinus atresia
  2123. Coronary sinus stenosis
  2124. Corpus callosum agenesis-abnormal genitalia syndrome
  2125. Corpus callosum agenesis-neuronopathy syndrome
  2126. Corpus callosum dysgenesis-hypopituitarism syndrome
  2127. Corticobasal syndrome
  2128. Corticosteroid-binding globulin deficiency
  2129. Costello syndrome
  2130. Costochondritis
  2131. Cowden syndrome
  2132. Coxoauricular syndrome
  2133. Coxopodopatellar syndrome
  2134. CPE-related Prader-Willi-like syndrome
  2135. Cramp-fasciculation syndrome
  2136. Crandall syndrome
  2137. Crane-Heise syndrome
  2138. Cranial malformation
  2139. Cranial meningocele
  2140. Cranial nerve and nuclear aplasia
  2141. Cranial neuralgia
  2142. Cranio-osteoarthropathy
  2143. Craniocervical instability
  2144. Craniodiaphyseal dysplasia
  2145. Craniodigital-intellectual disability syndrome
  2146. Cranioectodermal dysplasia
  2147. Craniofacial anomaly with cataract
  2148. Craniofacial conodysplasia
  2149. Craniofacial dysostosis-diaphyseal hyperplasia syndrome
  2150. Craniofacial-deafness-hand syndrome
  2151. Craniofaciofrontodigital syndrome
  2152. Craniofrontonasal dysplasia
  2153. Craniofrontonasal dysplasia-Poland anomaly syndrome
  2154. Craniolenticulosutural dysplasia
  2155. Craniometadiaphyseal dysplasia, wormian bone type
  2156. Craniometaphyseal dysplasia
  2157. Craniomicromelic syndrome
  2158. Craniopharyngioma
  2159. Craniorachischisis
  2160. Craniorhiny
  2161. Craniostenosis with strabismus
  2162. Craniosynostosis
  2163. Craniosynostosis, Boston type
  2164. Craniosynostosis, Herrmann-Opitz type
  2165. Craniosynostosis, Philadelphia type
  2166. Craniosynostosis-anal anomalies-porokeratosis syndrome
  2167. Craniosynostosis-dental anomalies
  2168. Craniosynostosis-dysmorphism-brachydactyly syndrome
  2169. Craniosynostosis-intracranial calcifications syndrome
  2170. Craniotelencephalic dysplasia
  2171. Creatine deficiency syndrome
  2172. Cree leukoencephalopathy
  2173. Creeping myiasis
  2174. CREST syndrome
  2175. Crigler-Najjar syndrome
  2176. Crigler-Najjar syndrome type 1
  2177. Crigler-Najjar syndrome type 2
  2178. Crimean-Congo hemorrhagic fever
  2179. Crisponi syndrome
  2180. Criss-cross heart
  2181. Crohn's disease
  2182. Cronkhite-Canada syndrome
  2183. Crossed polysyndactyly
  2184. Crouzon syndrome
  2185. Crouzon syndrome-acanthosis nigricans syndrome
  2186. Cryoglobulinemic vasculitis
  2187. Cryptococcosis
  2188. Cryptogenic late-onset epileptic spasms
  2189. Cryptogenic multifocal ulcerous stenosing enteritis
  2190. Cryptogenic organizing pneumonia
  2191. Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
  2192. Cryptophthalmia
  2193. Cryptosporidiosis
  2194. CSF leak
  2195. CTCF-related neurodevelopmental disorder
  2196. CTE or traumatic brain injury
  2197. Curly hair-acral keratoderma-caries syndrome
  2198. Currarino syndrome
  2199. Curry-Jones syndrome
  2200. Cushing disease
  2201. Cushing syndrome due to ectopic ACTH secretion
  2202. Cushing’s syndrome
  2203. Cutaneous collagenous vasculopathy
  2204. Cutaneous larva migrans
  2205. Cutaneous mastocytoma
  2206. Cutaneous mastocytosis
  2207. Cutaneous mastocytosis-deafness-microtia syndrome
  2208. Cutaneous myiasis
  2209. Cutaneous neuroendocrine carcinoma
  2210. Cutaneous photosensitivity-lethal colitis syndrome
  2211. Cutaneous polyarteritis nodosa
  2212. Cutaneous pseudolymphoma
  2213. Cutaneous small vessel vasculitis
  2214. Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
  2215. Cutis laxa
  2216. Cutis laxa-Marfanoid syndrome
  2217. Cutis marmorata telangiectatica congenita
  2218. Cutis verticis gyrata-intellectual disability syndrome
  2219. Cyanide poisoning
  2220. Cyanide-induced parkinsonism-dystonia
  2221. Cyclic neutropenia
  2222. Cyclic vomiting syndrome
  2223. Cyclosporiasis
  2224. Cylindrical spirals myopathy
  2225. Cyprus facial-neuromusculoskeletal syndrome
  2226. Cystadenoma of childhood
  2227. Cystathioninuria
  2228. Cystic echinococcosis
  2229. Cystic fibrosis
  2230. Cystic fibrosis-gastritis-megaloblastic anemia syndrome
  2231. Cystic hamartoma of lung and kidney
  2232. Cystic hygroma
  2233. Cystic leukoencephalopathy without megalencephaly
  2234. Cysticercosis
  2235. Cystinosis
  2236. Cystinuria
  2237. Cystinuria type A
  2238. Cystinuria type B
  2239. Cystoid macular dystrophy
  2240. Cysts and fistulae of the face and oral cavity
  2241. Cytophagic histiocytic panniculitis
  2242. Czeizel-Losonci syndrome
  2243. D,L-2-hydroxyglutaric aciduria
  2244. D-2-hydroxyglutaric aciduria
  2245. D-glyceric aciduria
  2246. Dahlberg-Borer-Newcomer syndrome
  2247. Dandy-Walker malformation-facial hemangioma syndrome
  2248. Dandy-Walker malformation-postaxial polydactyly syndrome
  2249. Danon disease
  2250. Dappled diaphyseal dysplasia
  2251. Darier disease
  2252. DDOST-CDG
  2253. De Barsy syndrome
  2254. De Hauwere syndrome
  2255. De Sanctis-Cacchione syndrome
  2256. Deaf blind hypopigmentation syndrome, Yemenite type
  2257. Deafness-craniofacial syndrome
  2258. Deafness-ear malformation-facial palsy syndrome
  2259. Deafness-enamel hypoplasia-nail defects syndrome
  2260. Deafness-epiphyseal dysplasia-short stature syndrome
  2261. Deafness-hypogonadism syndrome
  2262. Deafness-infertility syndrome
  2263. Deafness-lymphedema-leukemia syndrome
  2264. Deafness-oligodontia syndrome
  2265. Deafness-onychodystrophy syndrome
  2266. Deafness-opticoacoustic nerve atrophy-dementia syndrome
  2267. Deafness-small bowel diverticulosis-neuropathy syndrome
  2268. Deafness-vitiligo-achalasia syndrome
  2269. Dedifferentiated liposarcoma
  2270. Deep dermatophytosis
  2271. Defect in conserved oligomeric Golgi complex
  2272. Defect in V-ATPase
  2273. Deficiency of adenosine deaminase 2
  2274. Deficient breast volume or number
  2275. Degenerative disc disease
  2276. Dehydrated hereditary stomatocytosis
  2277. Dejerine-Sottas syndrome
  2278. Delayed encephalopathy due to carbon monoxide poisoning
  2279. Delayed membranous cranial ossification
  2280. Deletion 5q35 syndrome
  2281. Delta-beta-thalassemia
  2282. Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
  2283. Dementia
  2284. Dementia pugilistica
  2285. Demodicidosis
  2286. Demyelinating hereditary motor and sensory neuropathy
  2287. DEND syndrome
  2288. Dendritic cell sarcoma not otherwise specified
  2289. Dendritic cell tumor
  2290. Dengue fever
  2291. Dense deposit disease
  2292. Dense granule disease
  2293. Dent disease
  2294. Dent disease type 1
  2295. Dent disease type 2
  2296. Dental ankylosis
  2297. Dentatorubral pallidoluysian atrophy
  2298. Dentin dysplasia
  2299. Dentin dysplasia type I
  2300. Dentin dysplasia type II
  2301. Dentin dysplasia-sclerotic bones syndrome
  2302. Dentinogenesis imperfecta
  2303. Dentinogenesis imperfecta type 2
  2304. Dentinogenesis imperfecta type 3
  2305. Dentocutaneous disease with cataract
  2306. Denys-Drash syndrome
  2307. Depression
  2308. Dermatitis herpetiformis
  2309. Dermato-cardio-skeletal syndrome, Borrone type
  2310. Dermatofibrosarcoma protuberans
  2311. Dermatoleukodystrophy
  2312. Dermatomyositis
  2313. Dermatoosteolysis, Kirghizian type
  2314. Dermatopathia pigmentosa reticularis
  2315. Dermatosparaxis Ehlers-Danlos syndrome
  2316. Dermis disorder
  2317. Dermis elastic tissue disorder
  2318. Dermochondrocorneal dystrophy
  2319. Dermoid or epidermoid cyst of the central nervous system
  2320. Dermoodontodysplasia
  2321. Dermotrichic syndrome
  2322. Desbuquois syndrome
  2323. Desmin-related myopathy with Mallory body-like inclusions
  2324. Desminopathy
  2325. Desmoid tumor
  2326. Desmoplastic infantile astrocytoma/ganglioglioma
  2327. Desmoplastic small round cell tumor
  2328. Desmoplastic/nodular medulloblastoma
  2329. Desmosterolosis
  2330. Desquamative interstitial pneumonia
  2331. Developmental and speech delay due to SOX5 deficiency
  2332. Developmental anomaly of metabolic origin
  2333. Developmental defect of the eye
  2334. Developmental malformations-deafness-dystonia syndrome
  2335. Dextrocardia
  2336. Diabetic embryopathy
  2337. Diamond-Blackfan anemia
  2338. Dianzani autoimmune lymphoproliferative disease
  2339. Diaphanospondylodysostosis
  2340. Diaphragmatic defect-limb deficiency-skull defect syndrome
  2341. Diaphragmatic hernia-short bowel-asplenia syndrome
  2342. Diaphragmatic or abdominal wall malformation
  2343. Diaphyseal medullary stenosis-bone malignancy syndrome
  2344. Diastrophic dysplasia
  2345. Diazoxide-resistant diffuse hyperinsulinism
  2346. Diazoxide-resistant focal hyperinsulinism
  2347. Diazoxide-resistant hyperinsulinism
  2348. Diazoxide-sensitive diffuse hyperinsulinism
  2349. Dicarboxylic aminoaciduria
  2350. DICER1 tumor-predisposition syndrome
  2351. Didelphys uterus
  2352. Didymosis aplasticosebacea
  2353. Diencephalic syndrome
  2354. Diencephalic-mesencephalic junction dysplasia
  2355. Dietary iron overload disease
  2356. Diethylstilbestrol syndrome
  2357. Difference of sex development
  2358. Difference of sex development of gynecological interest
  2359. Differentiated thyroid carcinoma
  2360. Diffuse alveolar hemorrhage
  2361. Diffuse astrocytoma
  2362. Diffuse capillary malformation with overgrowth
  2363. Diffuse cutaneous mastocytosis
  2364. Diffuse cutaneous systemic sclerosis
  2365. Diffuse hemispheric glioma-H3 G34-mutant
  2366. Diffuse intrinsic pontine glioma
  2367. Diffuse large B-cell lymphoma
  2368. Diffuse large B-cell lymphoma with chronic inflammation
  2369. Diffuse leptomeningeal melanocytosis
  2370. Diffuse lymphatic malformation
  2371. Diffuse palmoplantar keratoderma
  2372. Diffuse palmoplantar keratoderma with painful fissures
  2373. Diffuse palmoplantar keratoderma, Bothnian type
  2374. Diffuse palmoplantar keratoderma-acrocyanosis syndrome
  2375. Diffuse panbronchiolitis
  2376. Diffuse unilateral subacute neuroretinitis
  2377. Diffused pleural mesothelioma
  2378. Digenic Alport syndrome
  2379. Digenic hemochromatosis
  2380. Digestive tract malformation
  2381. Digital extensor muscle aplasia-polyneuropathy
  2382. Digitalis poisoning
  2383. Digitorenocerebral syndrome
  2384. Dihydropteridine reductase deficiency
  2385. Dihydropyrimidine dehydrogenase deficiency
  2386. Dihydropyrimidinuria
  2387. Dilated cardiomyopathy
  2388. Dilated cardiomyopathy with ataxia
  2389. Dimethylglycine dehydrogenase deficiency
  2390. Dincsoy-Salih-Patel syndrome
  2391. Diphallia
  2392. Diphtheria
  2393. Diphyllobothriasis
  2394. Diprosopus
  2395. Dirofilariasis
  2396. Discoid lupus erythematosus
  2397. Discrete fibromuscular subaortic stenosis
  2398. Discrete fixed membranous subaortic stenosis
  2399. Discrete papular lichen myxedematosus
  2400. Dislocation of the hip-dysmorphism syndrome
  2401. Disorder of amino acid absorption and transport
  2402. Disorder of amino acid and other organic acid metabolism
  2403. Disorder of asparagine metabolism
  2404. Disorder of beta and omega amino acid metabolism
  2405. Disorder of bile acid synthesis
  2406. Disorder of bilirubin metabolism and excretion
  2407. Disorder of biogenic amine metabolism and transport
  2408. Disorder of branched-chain amino acid metabolism
  2409. Disorder of carbohydrate absorption and transport
  2410. Disorder of carbohydrate metabolism
  2411. Disorder of carnitine cycle and carnitine transport
  2412. Disorder of catecholamine synthesis
  2413. Disorder of cobalamin metabolism and transport
  2414. Disorder of copper metabolism
  2415. Disorder of energy metabolism
  2416. Disorder of fatty acid oxidation and ketogenesis
  2417. Disorder of folate metabolism and transport
  2418. Disorder of fructose metabolism
  2419. Disorder of fucoglycosan synthesis
  2420. Disorder of galactose metabolism
  2421. Disorder of gamma-aminobutyric acid metabolism
  2422. Disorder of glutamine metabolism
  2423. Disorder of glycerol metabolism
  2424. Disorder of glycolysis
  2425. Disorder of glyoxylate metabolism
  2426. Disorder of histidine metabolism
  2427. Disorder of iron metabolism and transport
  2428. Disorder of ketolysis
  2429. Disorder of keton body transport
  2430. Disorder of lipid absorption and transport
  2431. Disorder of lipid metabolism
  2432. Disorder of lysine and hydroxylysine metabolism
  2433. Disorder of lysosomal amino acid transport
  2434. Disorder of lysosomal-related organelles
  2435. Disorder of magnesium transport
  2436. Disorder of manganese transport
  2437. Disorder of melanin metabolism
  2438. Disorder of metabolite absorption and transport
  2439. Disorder of mineral absorption and transport
  2440. Disorder of multiple glycosylation
  2441. Disorder of neurotransmitter metabolism and transport
  2442. Disorder of neutral amino acid transport
  2443. Disorder of O-mannosylglycan synthesis
  2444. Disorder of O-N-acetylgalactosaminylglycan synthesis
  2445. Disorder of O-xylosylglycan synthesis
  2446. Disorder of ornithine metabolism
  2447. Disorder of ornithine or proline metabolism
  2448. Disorder of pentose phosphate metabolism
  2449. Disorder of peptide metabolism
  2450. Disorder of peroxisomal alpha-, beta- and omega-oxidation
  2451. Disorder of phenylalanin or tyrosine metabolism
  2452. Disorder of phenylalanine metabolism
  2453. Disorder of plasmalogens biosynthesis
  2454. Disorder of porphyrin and heme metabolism
  2455. Disorder of proline metabolism
  2456. Disorder of protein N-glycosylation
  2457. Disorder of protein O-glycosylation
  2458. Disorder of pterin metabolism
  2459. Disorder of purine metabolism
  2460. Disorder of purine or pyrimidine metabolism
  2461. Disorder of pyridoxine metabolism
  2462. Disorder of pyrimidine metabolism
  2463. Disorder of serine or glycine metabolism
  2464. Disorder of sialic acid metabolism
  2465. Disorder of the gamma-glutamyl cycle
  2466. Disorder of thiamine metabolism and transport
  2467. Disorder of tryptophan metabolism
  2468. Disorder of tyrosine metabolism
  2469. Disorder of zinc metabolism and transport
  2470. Disorder with optic nerve compression
  2471. Disorders of pentose/polyol metabolism
  2472. Disorders of vitamin D metabolism
  2473. Dissecting cellulitis of the scalp
  2474. Disseminated peritoneal leiomyomatosis
  2475. Disseminated superficial actinic porokeratosis
  2476. Dissociative disorder
  2477. Distal 16p11.2 microdeletion syndrome
  2478. Distal 17p13.1 microdeletion syndrome
  2479. Distal 17p13.3 microdeletion syndrome
  2480. Distal 22q11.2 microdeletion syndrome
  2481. Distal 22q11.2 microduplication syndrome
  2482. Distal 7q11.23 microdeletion syndrome
  2483. Distal 7q11.23 microduplication syndrome
  2484. Distal anoctaminopathy
  2485. Distal arthrogryposis
  2486. Distal arthrogryposis type 1
  2487. Distal arthrogryposis type 10
  2488. Distal arthrogryposis type 5D
  2489. Distal deletion 10p syndrome
  2490. Distal deletion 10q syndrome
  2491. Distal deletion 12p syndrome
  2492. Distal deletion 12q syndrome
  2493. Distal deletion 13q syndrome
  2494. Distal deletion 14q syndrome
  2495. Distal deletion 15q syndrome
  2496. Distal deletion 17q syndrome
  2497. Distal deletion 19p syndrome
  2498. Distal deletion 1q syndrome
  2499. Distal deletion 3p syndrome
  2500. Distal deletion 4q syndrome
  2501. Distal deletion 6p syndrome
  2502. Distal deletion 7p syndrome
  2503. Distal deletion 9p syndrome
  2504. Distal duplication 10q syndrome
  2505. Distal duplication 11q syndrome
  2506. Distal duplication 13q syndrome
  2507. Distal duplication 14q syndrome
  2508. Distal duplication 15q syndrome
  2509. Distal duplication 16q syndrome
  2510. Distal duplication 17q syndrome
  2511. Distal duplication 18q syndrome
  2512. Distal duplication 19q syndrome
  2513. Distal duplication 1p36 syndrome
  2514. Distal duplication 20q syndrome
  2515. Distal duplication 22q syndrome
  2516. Distal duplication 2p syndrome
  2517. Distal duplication 2q syndrome
  2518. Distal duplication 3p syndrome
  2519. Distal duplication 4q syndrome
  2520. Distal duplication 5q syndrome
  2521. Distal duplication 6p syndrome
  2522. Distal duplication 6q syndrome
  2523. Distal duplication 7p syndrome
  2524. Distal duplication 8q syndrome
  2525. Distal duplication 9q syndrome
  2526. Distal hereditary motor neuropathy
  2527. Distal hereditary motor neuropathy type 1
  2528. Distal hereditary motor neuropathy type 2
  2529. Distal hereditary motor neuropathy type 5
  2530. Distal hereditary motor neuropathy type 7
  2531. Distal hereditary motor neuropathy, Jerash type
  2532. Distal limb deficiencies-micrognathia syndrome
  2533. Distal monosomy 7q36 syndrome
  2534. Distal myopathy
  2535. Distal myopathy with anterior tibial onset
  2536. Distal myopathy with early respiratory muscle involvement
  2537. Distal myopathy, Tateyama type
  2538. Distal myopathy, Welander type
  2539. Distal myotilinopathy
  2540. Distal renal tubular acidosis
  2541. Distal renal tubular acidosis with anemia
  2542. Distal spinal muscular atrophy type 3
  2543. Distal triplication 15q syndrome
  2544. Distal Xq28 microduplication syndrome
  2545. Distomatosis
  2546. DITRA
  2547. Diverticular disease
  2548. DK1-CDG
  2549. DNA2-related mitochondrial DNA deletion syndrome
  2550. DNAJB2-related Charcot-Marie-Tooth disease type 2
  2551. DNAJB4-related distal myopathy
  2552. DNAJB6-related distal myopathy
  2553. DNAJB6-related limb-girdle muscular dystrophy D1
  2554. DNMT3A-related microcephalic dwarfism
  2555. Dobrow syndrome
  2556. Donnai-Barrow syndrome
  2557. Donohue syndrome
  2558. DOORS syndrome
  2559. Dopa-responsive dystonia
  2560. Dopamine beta-hydroxylase deficiency
  2561. Dorsal spinal cord lipoma
  2562. Double outlet left ventricle
  2563. Double outlet right ventricle
  2564. Double uterus-hemivagina-renal agenesis syndrome
  2565. Double-orifice mitral valve
  2566. Dowling-Degos disease
  2567. Down syndrome
  2568. DPAGT1-CDG
  2569. DPM1-CDG
  2570. DPM3-CDG
  2571. Dracunculiasis
  2572. Dravet syndrome
  2573. Drug reaction with eosinophilia and systemic symptoms
  2574. Drug- or toxin-induced pulmonary arterial hypertension
  2575. Drug-induced autoimmune hemolytic anemia
  2576. Drug-induced localized lipodystrophy
  2577. Drug-induced lupus erythematosus
  2578. Drug-induced vasculitis
  2579. Drug-related renal tubular dysgenesis
  2580. Dry eye disease
  2581. Duane anomaly-myopathy-scoliosis syndrome
  2582. Duane retraction syndrome
  2583. Duane retraction syndrome with congenital deafness
  2584. Dubin-Johnson syndrome
  2585. Dubowitz syndrome
  2586. Duchenne and Becker muscular dystrophy
  2587. Duchenne muscular dystrophy
  2588. Duodenal atresia
  2589. Duodenal neuroendocrine tumor
  2590. Duplication of the esophagus
  2591. Duplication of the pituitary gland
  2592. Duplication of urethra
  2593. Dural sinus malformation with arteriovenous shunt
  2594. Dural sinus malformation without arteriovenous shunt
  2595. Dursun syndrome
  2596. Dwarfism-tall vertebrae syndrome
  2597. Dyggve-Melchior-Clausen disease
  2598. DYRK1A-related intellectual disability syndrome
  2599. Dysautonomia
  2600. Dysbetalipoproteinemia
  2601. Dyschromatosis symmetrica hereditaria
  2602. Dyschromatosis universalis hereditaria
  2603. Dysembryoplastic neuroepithelial tumor
  2604. Dysequilibrium syndrome
  2605. Dysferlin-related limb-girdle muscular dystrophy R2
  2606. Dyskeratosis congenita
  2607. Dysmorphism-cleft palate-loose skin syndrome
  2608. Dysmorphism-conductive hearing loss-heart defect syndrome
  2609. Dysmorphism-pectus carinatum-joint laxity syndrome
  2610. Dysosteosclerosis
  2611. Dysostosis
  2612. Dysostosis of genetic origin
  2613. Dysostosis with brachydactyly
  2614. Dysostosis with limb anomaly as a major feature
  2615. Dysostosis with predominant craniofacial involvement
  2616. Dysphagia lusoria
  2617. Dysplasia epiphysealis hemimelica
  2618. Dysplasia of head of femur, Meyer type
  2619. Dysplastic cortical hyperostosis
  2620. Dysplastic cortical hyperostosis, Al-Gazali type
  2621. Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
  2622. Dysraphic spinal cord lipoma
  2623. Dysraphism with stalk
  2624. Dysraphism-cleft lip/palate-limb reduction defects syndrome
  2625. Dyssegmental dysplasia, Rolland-Desbuquois type
  2626. Dyssegmental dysplasia, Silverman-Handmaker type
  2627. Dyssegmental dysplasia-glaucoma syndrome
  2628. Dysspondyloenchondromatosis
  2629. Dystonia
  2630. Dystonia 14
  2631. Dystonia 16
  2632. Dystonia 28
  2633. Dystonia-aphonia syndrome
  2634. Dystonia-parkinsonism-hypermanganesemia syndrome
  2635. Dystrophic epidermolysis bullosa
  2636. Dystrophic epidermolysis bullosa pruriginosa
  2637. Eales disease
  2638. Ear-patella-short stature syndrome
  2639. Early infantile developmental and epileptic encephalopathy
  2640. Early myoclonic encephalopathy
  2641. Early onset non-syndromic cataract
  2642. Early-onset anterior polar cataract
  2643. Early-onset ataxia with dementia
  2644. Early-onset autosomal dominant Alzheimer disease
  2645. Early-onset cerebellar ataxia with retained tendon reflexes
  2646. Early-onset familial hypoaldosteronism
  2647. Early-onset familial noncirrhotic portal hypertension
  2648. Early-onset generalized limb-onset dystonia
  2649. Early-onset idiopathic chronic pancreatitis
  2650. Early-onset lamellar cataract
  2651. Early-onset myopathy with fatal cardiomyopathy
  2652. Early-onset nuclear cataract
  2653. Early-onset parkinsonism-intellectual disability syndrome
  2654. Early-onset partial cataract
  2655. Early-onset posterior polar cataract
  2656. Early-onset posterior subcapsular cataract
  2657. Early-onset sarcoidosis
  2658. Early-onset sutural cataract
  2659. Early-onset X-linked optic atrophy
  2660. Early-onset zonular cataract
  2661. EAST syndrome
  2662. East Texas bleeding disorder
  2663. Eastern equine encephalitis
  2664. Eating disorder
  2665. Eating reflex epilepsy
  2666. Ebola hemorrhagic fever
  2667. Ebstein malformation of the tricuspid valve
  2668. Eccrine angiomatous hamartoma
  2669. Ectasia of the left atrial appendage
  2670. Ectasia of the right atrial appendage
  2671. Ectodermal dysplasia syndrome
  2672. Ectodermal dysplasia with natal teeth, Turnpenny type
  2673. Ectodermal dysplasia, trichoodontoonychial type
  2674. Ectodermal dysplasia-blindness syndrome
  2675. Ectodermal dysplasia-sensorineural deafness syndrome
  2676. Ectodermal dysplasia-skin fragility syndrome
  2677. Ectopia cordis
  2678. Ectopia lentis-chorioretinal dystrophy-myopia syndrome
  2679. Ectopic aldosterone-producing tumor
  2680. Ectrodactyly with and without other manifestations
  2681. Ectrodactyly-cleft palate syndrome
  2682. Ectrodactyly-ectodermal dysplasia without clefting syndrome
  2683. Ectrodactyly-polydactyly syndrome
  2684. Ectrodactyly-spina bifida-cardiopathy syndrome
  2685. Eczema
  2686. EDEM3-CDG
  2687. EDICT syndrome
  2688. Edinburgh malformation syndrome
  2689. EEC syndrome
  2690. EEC syndrome and related disorders
  2691. EEM syndrome
  2692. Ehlers-Danlos syndrome
  2693. Ehlers-Danlos syndrome with periventricular heterotopia
  2694. Ehlers-Danlos/osteogenesis imperfecta syndrome
  2695. Ehrlichiosis
  2696. Eiken syndrome
  2697. Eisenmenger syndrome
  2698. Elastoderma
  2699. Elastofibroma dorsi
  2700. Elastoma
  2701. Elastosis perforans serpiginosa
  2702. Ellis Van Creveld syndrome
  2703. Emanuel syndrome
  2704. Embryonal carcinoma
  2705. Embryonal carcinoma of the central nervous system
  2706. Embryonal rhabdomyosarcoma
  2707. Embryonal tumor of neuroepithelial tissue
  2708. Embryonal tumor with multilayered rosettes
  2709. Emergomycosis
  2710. Emery-Dreifuss muscular dystrophy
  2711. Emery-Nelson syndrome
  2712. EMILIN-1-related connective tissue disease
  2713. EN1-related dorsoventral syndrome
  2714. Enamel-renal syndrome
  2715. Encapsulating peritoneal sclerosis
  2716. Encephalitis
  2717. Encephalitis lethargica
  2718. Encephaloclastic disorder
  2719. Encephalocraniocutaneous lipomatosis
  2720. Encephalopathy due to prosaposin deficiency
  2721. Encephalopathy due to sulfite oxidase deficiency
  2722. Encircling double aortic arch
  2723. Endemic pemphigus foliaceus
  2724. Endocardial fibroelastosis
  2725. Endocrine-cerebro-osteodysplasia syndrome
  2726. Endogenous Cushing syndrome
  2727. Endometrial stromal sarcoma
  2728. Endometrioid carcinoma of ovary
  2729. Endometriosis
  2730. Endophthalmitis
  2731. Endosteal hyperostosis, Worth type
  2732. Endosteal sclerosis-cerebellar hypoplasia syndrome
  2733. Energy metabolism disorder with epilepsy
  2734. Eng-Strom syndrome
  2735. Enlarged parietal foramina
  2736. Enteric anendocrinosis
  2737. Enteropathy-associated T-cell lymphoma
  2738. Enthesitis-related juvenile idiopathic arthritis
  2739. Eosinophilic angiocentric fibrosis
  2740. Eosinophilic colitis
  2741. Eosinophilic cystitis
  2742. Eosinophilic esophagitis
  2743. Eosinophilic fasciitis
  2744. Eosinophilic gastroenteritis
  2745. Eosinophilic granulomatosis with polyangiitis
  2746. Ependymal tumor
  2747. Ependymoblastoma
  2748. Ependymoma
  2749. EPHB4-related lymphatic-related hydrops fetalis
  2750. Epiblepharon
  2751. Epidemic typhus
  2752. Epidermal appendage anomaly
  2753. Epidermal disease
  2754. Epidermal nevus syndrome
  2755. Epidermolysis bullosa acquisita
  2756. Epidermolysis bullosa simplex
  2757. Epidermolysis bullosa simplex due to BP230 deficiency
  2758. Epidermolysis bullosa simplex with anodontia/hypodontia
  2759. Epidermolysis bullosa simplex with mottled pigmentation
  2760. Epidermolysis bullosa simplex with muscular dystrophy
  2761. Epidermolysis bullosa simplex with pyloric atresia
  2762. Epidermolytic nevus
  2763. Epidermolytic palmoplantar keratoderma
  2764. Epignathus
  2765. Epilepsy
  2766. Epilepsy and/or ataxia with myoclonus as a major feature
  2767. Epilepsy of infancy with migrating focal seizures
  2768. Epilepsy syndrome
  2769. Epilepsy with auditory features
  2770. Epilepsy with eyelid myoclonia
  2771. Epilepsy with generalized tonic-clonic seizures alone
  2772. Epilepsy with myoclonic absences
  2773. Epilepsy with myoclonic-atonic seizures
  2774. Epilepsy with reading-induced seizures
  2775. Epilepsy-microcephaly-skeletal dysplasia syndrome
  2776. Epilepsy-telangiectasia syndrome
  2777. Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
  2778. Epiphyseal stippling-osteoclastic hyperplasia syndrome
  2779. Epiphysiolysis of the hip
  2780. Episodic ataxia type 1
  2781. Episodic ataxia type 3
  2782. Episodic ataxia type 4
  2783. Episodic ataxia type 5
  2784. Episodic ataxia type 6
  2785. Episodic ataxia type 7
  2786. Episodic ataxia with slurred speech
  2787. Episodic memory defect leukoencephalopathy
  2788. Epithelial basement membrane dystrophy
  2789. Epithelial recurrent erosion dystrophy
  2790. Epithelial tumor of anal canal
  2791. Epithelial tumor of the appendix
  2792. Epithelioid hemangioendothelioma
  2793. Epithelioid hemangioma
  2794. Epithelioid sarcoma
  2795. Epithelioid trophoblastic tumor
  2796. Epstein syndrome
  2797. Epstein-Barr Virus-associated carcinoma
  2798. Epstein-Barr virus-associated gastric carcinoma
  2799. Epstein-Barr Virus-associated mesenchymal tumor
  2800. Epstein-Barr virus-positive diffuse large B-cell lymphoma
  2801. Epstein-Barr Virus-related tumor
  2802. Erdheim-Chester disease
  2803. Ermine phenotype
  2804. Erosive pustular dermatosis of the scalp
  2805. Erythema elevatum diutinum
  2806. Erythema multiforme major
  2807. Erythema palmare hereditarium
  2808. Erythrocyte galactose epimerase deficiency
  2809. Erythroderma desquamativum
  2810. Erythrokeratoderma
  2811. Erythrokeratoderma ''en cocardes''
  2812. Erythrokeratoderma variabilis progressiva
  2813. Erythrokeratodermia variabilis
  2814. Erythrokeratodermia-cardiomyopathy syndrome
  2815. Erythropoietic porphyria
  2816. Esophageal atresia
  2817. Esophageal malformation
  2818. Essential fructosuria
  2819. Essential iris atrophy
  2820. Essential thrombocythemia
  2821. Essential tremor
  2822. Esthesioneuroblastoma
  2823. Estrogen resistance syndrome
  2824. Ethylene glycol poisoning
  2825. Ethylmalonic encephalopathy
  2826. Euryblepharon
  2827. Euthyroid dysprealbuminemic hyperthyroxinemia
  2828. Euthyroid Graves orbitopathy
  2829. Evans syndrome
  2830. EVEN-plus syndrome
  2831. Excess breast volume or number
  2832. Exercise intolerance with lactic acidosis
  2833. Exercise-induced hyperinsulinism
  2834. Exercise-induced malignant hyperthermia
  2835. Exfoliative ichthyosis
  2836. Exostoses-anetodermia-brachydactyly type E syndrome
  2837. Exposure-related interstitial lung disease
  2838. Exstrophy-epispadias complex
  2839. Extensor tendons of finger anomalies
  2840. External auditory canal aplasia/hypoplasia
  2841. Extracranial carotid artery aneurysm
  2842. Extracutaneous mastocytoma
  2843. Extragonadal germ cell tumor
  2844. Extragonadal germinoma
  2845. Extragonadal non-dysgerminomatous germ cell tumor
  2846. Extragonadal teratoma
  2847. Extralobar congenital pulmonary sequestration
  2848. Extramammary Paget disease
  2849. Extramedullary conus spinal cord lipoma
  2850. Extramedullary soft tissue plasmacytoma
  2851. Extraneural perineurioma
  2852. Extranodal nasal NK/T cell lymphoma
  2853. Extrapelvic endometriosis
  2854. Extraskeletal Ewing sarcoma
  2855. Extraskeletal myxoid chondrosarcoma
  2856. Extraventricular neurocytoma
  2857. Eye defects-arachnodactyly-cardiopathy syndrome
  2858. Eyebrow duplication-syndactyly syndrome
  2859. Eyelid border anomaly
  2860. Eyelid sebaceous carcinoma
  2861. F12-associated cold autoinflammatory syndrome
  2862. F12-related hereditary angioedema with normal C1Inh
  2863. Fabry disease
  2864. Facial cleft
  2865. Facial dermoid cyst
  2866. Facial diplegia with paresthesias
  2867. Facial dysmorphism-shawl scrotum-joint laxity syndrome
  2868. Facial onset sensory and motor neuronopathy
  2869. Faciocardiorenal syndrome
  2870. Facioscapulohumeral dystrophy
  2871. Factor V Amsterdam bleeding disorder
  2872. Factor V Atlanta bleeding disorder
  2873. Factor V short isoforms-related bleeding disorder
  2874. FADD-related immunodeficiency
  2875. Faisalabad histiocytosis
  2876. Familial abdominal aortic aneurysm
  2877. Familial acute necrotizing encephalopathy
  2878. Familial adenomatous polyposis
  2879. Familial adult myoclonic epilepsy
  2880. Familial advanced sleep-phase syndrome
  2881. Familial afibrinogenemia
  2882. Familial Alzheimer-like prion disease
  2883. Familial anetoderma
  2884. Familial angiolipomatosis
  2885. Familial aortic dissection
  2886. Familial apolipoprotein A5 deficiency
  2887. Familial apolipoprotein C-II deficiency
  2888. Familial articular hypermobility syndrome
  2889. Familial atrial myxoma
  2890. Familial atypical multiple mole melanoma syndrome
  2891. Familial avascular necrosis of femoral head
  2892. Familial benign copper deficiency
  2893. Familial benign flecked retina
  2894. Familial bicuspid aortic valve
  2895. Familial calcium pyrophosphate deposition
  2896. Familial caudal dysgenesis
  2897. Familial cavitary optic disc anomaly
  2898. Familial cerebral cavernous malformation
  2899. Familial cerebral saccular aneurysm
  2900. Familial Chilblain lupus
  2901. Familial chylomicronemia syndrome
  2902. Familial clubfoot due to 17q23.1q23.2 microduplication
  2903. Familial clubfoot due to 5q31 microdeletion
  2904. Familial clubfoot due to PITX1 point mutation
  2905. Familial cold urticaria
  2906. Familial colorectal cancer Type X
  2907. Familial congenital mirror movements
  2908. Familial congenital nasolacrimal duct obstruction
  2909. Familial congenital palsy of trochlear nerve
  2910. Familial cortical myoclonus
  2911. Familial cutaneous collagenoma
  2912. Familial cylindromatosis
  2913. Familial developmental dysphasia
  2914. Familial digital arthropathy-brachydactyly
  2915. Familial dilated cardiomyopathy
  2916. Familial drusen
  2917. Familial dysautonomia
  2918. Familial dysfibrinogenemia
  2919. Familial dyskinesia and facial myokymia
  2920. Familial encephalopathy with neuroserpin inclusion bodies
  2921. Familial episodic pain syndrome
  2922. Familial expansile osteolysis
  2923. Familial exudative vitreoretinopathy
  2924. Familial focal epilepsy with variable foci
  2925. Familial gastric type 1 neuroendocrine tumor
  2926. Familial generalized lentiginosis
  2927. Familial gestational hyperthyroidism
  2928. Familial glucocorticoid deficiency
  2929. Familial GPIHBP1 deficiency
  2930. Familial hemophagocytic lymphohistiocytosis
  2931. Familial hyperaldosteronism
  2932. Familial hyperaldosteronism type I
  2933. Familial hyperaldosteronism type II
  2934. Familial hyperaldosteronism type III
  2935. Familial hyperaldosteronism type IV
  2936. Familial Hyperalphalipoproteinemia
  2937. Familial hypercholanemia
  2938. Familial hyperinsulinism
  2939. Familial hyperprolactinemia
  2940. Familial hyperthyroidism due to mutations in TSH receptor
  2941. Familial hypoaldosteronism
  2942. Familial hypocalciuric hypercalcemia
  2943. Familial hypocalciuric hypercalcemia type 1
  2944. Familial hypocalciuric hypercalcemia type 2
  2945. Familial hypocalciuric hypercalcemia type 3
  2946. Familial hypodysfibrinogenemia
  2947. Familial hypofibrinogenemia
  2948. Familial idiopathic dilatation of the right atrium
  2949. Familial infantile bilateral striatal necrosis
  2950. Familial infantile myoclonic epilepsy
  2951. Familial intestinal malrotation
  2952. Familial intrahepatic cholestasis
  2953. Familial intraosseous vascular malformation
  2954. Familial isolated cafe-au-lait macules
  2955. Familial isolated clinodactyly of fingers
  2956. Familial isolated congenital asplenia
  2957. Familial isolated dilated cardiomyopathy
  2958. Familial isolated hyperparathyroidism
  2959. Familial isolated hypoparathyroidism
  2960. Familial isolated pituitary adenoma
  2961. Familial isolated restrictive cardiomyopathy
  2962. Familial isolated retinal arteriolar tortuosity
  2963. Familial isolated trichomegaly
  2964. Familial juvenile hypertrophy of the breast
  2965. Familial keratoacanthoma
  2966. Familial LCAT deficiency
  2967. Familial lipase maturation factor 1 deficiency
  2968. Familial lipoprotein lipase deficiency
  2969. Familial median cleft of the upper and lower lips
  2970. Familial Mediterranean fever
  2971. Familial melanoma
  2972. Familial mesial temporal lobe epilepsy
  2973. Familial mitral valve prolapse
  2974. Familial monosomy 7 syndrome
  2975. Familial multinodular goiter
  2976. Familial multiple discoid fibromas
  2977. Familial multiple fibrofolliculoma
  2978. Familial multiple lipomatosis
  2979. Familial multiple meningioma
  2980. Familial multiple nevi flammei
  2981. Familial multiple trichoepithelioma
  2982. Familial nasal acilia
  2983. Familial nonmedullary thyroid carcinoma
  2984. Familial normophosphatemic tumoral calcinosis
  2985. Familial omphalocele syndrome with facial dysmorphism
  2986. Familial or sporadic hemiplegic migraine
  2987. Familial ossifying fibroma
  2988. Familial osteochondritis dissecans
  2989. Familial osteodysplasia, Anderson type
  2990. Familial pancreatic carcinoma
  2991. Familial papillary or follicular thyroid carcinoma
  2992. Familial paroxysmal ataxia
  2993. Familial partial epilepsy
  2994. Familial partial lipodystrophy
  2995. Familial partial lipodystrophy, Dunnigan type
  2996. Familial partial lipodystrophy, Kobberling type
  2997. Familial patent arterial duct
  2998. Familial peripheral male-limited precocious puberty
  2999. Familial porencephaly
  3000. Familial porphyria cutanea tarda
  3001. Familial primary hyperparathyroidism
  3002. Familial primary localized cutaneous amyloidosis
  3003. Familial progressive hyper- and hypopigmentation
  3004. Familial progressive hyperpigmentation
  3005. Familial progressive vestibulocochlear dysfunction
  3006. Familial prostate cancer
  3007. Familial pseudohyperkalemia
  3008. Familial pseudohyperkalemia type 1
  3009. Familial pterygium of the conjunctiva
  3010. Familial reactive perforating collagenosis
  3011. Familial recurrent peripheral facial palsy
  3012. Familial renal glucosuria
  3013. Familial restrictive cardiomyopathy
  3014. Familial retinal arterial macroaneurysm
  3015. Familial scaphocephaly syndrome
  3016. Familial scaphocephaly syndrome, McGillivray type
  3017. Familial schizencephaly
  3018. Familial sinus histiocytosis with massive lymphadenopathy
  3019. Familial spontaneous pneumothorax
  3020. Familial supernumerary nipples
  3021. Familial syringomyelia
  3022. Familial temporal lobe epilepsy
  3023. Familial thoracic aortic aneurysm and aortic dissection
  3024. Familial thrombocytosis
  3025. Familial thrombomodulin anomalies
  3026. Familial thyroglossal duct cyst
  3027. Familial thyroid dyshormonogenesis
  3028. Familial tumoral calcinosis
  3029. Familial vesicoureteral reflux
  3030. Familial visceral myopathy
  3031. Fanconi anemia
  3032. Fanconi syndrome-ichthyosis-dysmorphism syndrome
  3033. Fanconi-Bickel syndrome
  3034. Farber disease
  3035. Fasciolopsiasis
  3036. Fast-channel congenital myasthenic syndrome
  3037. Fast-flow vascular malformation
  3038. FASTKD2-related infantile mitochondrial encephalomyopathy
  3039. Fatal familial insomnia
  3040. Fatal infantile cytochrome C oxidase deficiency
  3041. Fatal infantile hypertonic myofibrillar myopathy
  3042. Fatal infantile lactic acidosis with methylmalonic aciduria
  3043. Fatal post-viral neurodegenerative disorder
  3044. FATCO syndrome
  3045. Fatty acid hydroxylase-associated neurodegeneration
  3046. Fatty acyl-CoA reductase 1 deficiency
  3047. Fatty liver disease
  3048. Febrile infection-related epilepsy syndrome
  3049. Fechtner syndrome
  3050. Feingold syndrome
  3051. Feingold syndrome type 1
  3052. Feingold syndrome type 2
  3053. Felty syndrome
  3054. Female adnexal tumor of probable Wolffian origin
  3055. Female infertility due to oocyte meiotic arrest
  3056. Female infertility due to zona pellucida defect
  3057. Female restricted epilepsy with intellectual disability
  3058. Femoral-facial syndrome
  3059. Femur-fibula-ulna complex
  3060. Ferro-cerebro-cutaneous syndrome
  3061. Ferroportin disease
  3062. Fetal akinesia deformation sequence
  3063. Fetal akinesia-cerebral and retinal hemorrhage syndrome
  3064. Fetal alcohol syndrome
  3065. Fetal and neonatal alloimmune thrombocytopenia
  3066. Fetal anticonvulsant syndrome
  3067. Fetal carbamazepine syndrome
  3068. Fetal cytomegalovirus syndrome
  3069. Fetal encasement syndrome
  3070. Fetal Gaucher disease
  3071. Fetal hydantoin syndrome
  3072. Fetal iodine syndrome
  3073. Fetal lower urinary tract obstruction
  3074. Fetal lung interstitial tumor
  3075. Fetal methylmercury syndrome
  3076. Fetal minoxidil syndrome
  3077. Fetal parvovirus syndrome
  3078. Fetal trimethadione syndrome
  3079. Fetal valproate spectrum disorder
  3080. Fever-associated acute infantile liver failure syndrome
  3081. FG syndrome type 1
  3082. FGFR2-related bent bone dysplasia
  3083. FGFR3-related chondrodysplasia
  3084. Fibrillary astrocytoma
  3085. Fibro-adipose vascular anomaly
  3086. Fibroblastic rheumatism
  3087. Fibrochondrogenesis
  3088. Fibrodysplasia ossificans progressiva
  3089. Fibrohistiocytic inflammatory pseudotumor of the liver
  3090. Fibrolamellar hepatocellular carcinoma
  3091. Fibrolipomatous filum anomaly
  3092. Fibromuscular dysplasia
  3093. Fibromuscular dysplasia of the coronary arteries
  3094. Fibromuscular dysplasia of the renal arteries
  3095. Fibromuscular dysplasia of the visceral arteries
  3096. Fibromyalgia
  3097. Fibronectin glomerulopathy
  3098. Fibroneural non-saccular limited dorsal myeloschisis
  3099. Fibrosarcoma
  3100. Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
  3101. Fibrotic hypersensitivity pneumonitis
  3102. Fibrous dysplasia of bone
  3103. Fibrous dysplasia/McCune-Albright syndrome
  3104. Fibular aplasia-complex brachydactyly syndrome
  3105. Fibular aplasia-ectrodactyly syndrome
  3106. Fibular dimelia-diplopodia syndrome
  3107. Fibulo-ulnar hypoplasia-renal anomalies syndrome
  3108. Filamin-related bone disorder
  3109. Filariasis
  3110. Filippi syndrome
  3111. Fingerprint body myopathy
  3112. First branchial cleft anomaly
  3113. Fish-eye disease
  3114. Fixed drug eruption
  3115. Fixed subaortic stenosis
  3116. FKRP-related limb-girdle muscular dystrophy R9
  3117. Flat face-microstomia-ear anomaly syndrome
  3118. Fleck corneal dystrophy
  3119. FLNA-related X-linked myxomatous valvular dysplasia
  3120. FLNC-related handgrip and calf weakness-distal myopathy
  3121. Floating-Harbor syndrome
  3122. Florid cemento-osseous dysplasia
  3123. FLOTCH syndrome
  3124. Flynn-Aird syndrome
  3125. FND (functional neurological disorder)
  3126. Focal acral hyperkeratosis
  3127. Focal dermal hypoplasia
  3128. Focal facial dermal dysplasia
  3129. Focal facial dermal dysplasia type I
  3130. Focal facial dermal dysplasia type II
  3131. Focal facial dermal dysplasia type III
  3132. Focal facial dermal dysplasia type IV
  3133. Focal myositis
  3134. Focal palmoplantar and gingival keratoderma
  3135. Focal palmoplantar keratoderma
  3136. Focal palmoplantar keratoderma with joint keratoses
  3137. Focal stiff limb syndrome
  3138. Focal, segmental or multifocal dystonia
  3139. Foix-Chavany-Marie syndrome
  3140. Folinic acid-responsive seizures
  3141. Follicular cholangitis and pancreatitis
  3142. Follicular dendritic cell sarcoma
  3143. Follicular lymphoma
  3144. Folliculotropic mycosis fungoides
  3145. Fontaine progeroid syndrome
  3146. Fontan-associated liver disease
  3147. Food allergies
  3148. Foodborne botulism
  3149. Formiminoglutamic aciduria
  3150. Fountain syndrome
  3151. Fourth branchial cleft anomaly
  3152. Foveal hypoplasia-presenile cataract syndrome
  3153. Fowler urethral sphincter dysfunction syndrome
  3154. Fowler vasculopathy
  3155. FOXG1 syndrome
  3156. FOXG1 syndrome due to 14q12 microdeletion
  3157. FOXG1 syndrome due to intragenic alteration
  3158. FOXP1 Syndrome
  3159. Fragile X syndrome
  3160. Fragile X-associated primary ovarian insufficiency
  3161. Fragile X-associated tremor/ataxia syndrome
  3162. Frank-Ter Haar syndrome
  3163. Fraser syndrome
  3164. Fraser-like syndrome
  3165. Frasier syndrome
  3166. FRAXE intellectual disability
  3167. FRAXF syndrome
  3168. Free sialic acid storage disease
  3169. Free sialic acid storage disease, infantile form
  3170. Freeman-Sheldon syndrome
  3171. Frey syndrome
  3172. Fried syndrome
  3173. Fried's tooth and nail syndrome
  3174. Friedreich ataxia
  3175. Frontal encephalocele
  3176. Frontal fibrosing alopecia
  3177. Frontofacionasal dysplasia
  3178. Frontometaphyseal dysplasia
  3179. Frontonasal dysplasia
  3180. Frontonasal dysplasia-alopecia-genital anomalies syndrome
  3181. Frontorhiny
  3182. Frontotemporal degeneration with dementia
  3183. Frontotemporal dementia
  3184. Frontotemporal dementia with motor neuron disease
  3185. Frontotemporal dementia, right temporal atrophy variant
  3186. Frontotemporal neurodegeneration with movement disorder
  3187. Fructose-1,6-bisphosphatase deficiency
  3188. Fryns syndrome
  3189. Fryns-Smeets-Thiry syndrome
  3190. FTH1-related iron overload
  3191. Fuchs endothelial corneal dystrophy
  3192. Fuchs heterochromic iridocyclitis
  3193. Fucosidosis
  3194. Fuhrmann syndrome
  3195. Fukuda-Miyanomae-Nakata syndrome
  3196. Fukutin-related limb-girdle muscular dystrophy R13
  3197. Full NF2-related schwannomatosis
  3198. Full schwannomatosis
  3199. Fulminant viral hepatitis
  3200. Fumaric aciduria
  3201. Functional dyspepsia
  3202. Functional variant of Guillain-Barre syndrome
  3203. Functioning gonadotropic adenoma
  3204. Functioning neuroendocrine tumor of pancreas
  3205. Functioning pituitary adenoma
  3206. Fundus albipunctatus
  3207. Fundus pulverulentus
  3208. Fungal keratitis
  3209. Fungal myositis
  3210. Furlong syndrome
  3211. Furuncular myiasis
  3212. Furuncular myiasis due to Cordylobia anthropophaga
  3213. Furuncular myiasis due to Cordylobia rodhaini
  3214. Furuncular myiasis due to Dermatobia hominis
  3215. Fusariosis
  3216. Fused mandibular incisors
  3217. Gabriele-de Vries syndrome
  3218. Gaisbock syndrome
  3219. Galactokinase deficiency
  3220. Galactose epimerase deficiency
  3221. Galactose mutarotase deficiency
  3222. Galactosemia
  3223. Galactosialidosis
  3224. Gallbladder neuroendocrine tumor
  3225. Gallblader arteriovenous malformation
  3226. Galloway-Mowat syndrome
  3227. Gamma-aminobutyric acid transaminase deficiency
  3228. Gamma-glutamyl transpeptidase deficiency
  3229. Gamma-heavy chain disease
  3230. Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
  3231. Gangliocytoma
  3232. Ganglioglioma
  3233. Ganglioneuroblastoma
  3234. Ganglioneuroma
  3235. Gangliosidosis
  3236. GAPO syndrome
  3237. Gardner syndrome
  3238. Gastric linitis plastica
  3239. Gastrocutaneous syndrome
  3240. Gastroduodenal malformation
  3241. Gastroenteric neuroendocrine neoplasm
  3242. Gastroenteropancreatic neuroendocrine neoplasm
  3243. Gastrointestinal stromal tumor
  3244. Gastrointestinal tract arteriovenous malformation
  3245. Gastroparesis
  3246. Gastroschisis
  3247. GATA2 deficiency spectrum
  3248. Gaucher disease
  3249. Gaucher disease type 1
  3250. Gaucher disease type 2
  3251. Gaucher disease type 3
  3252. GCGR-related hyperglucagonemia
  3253. Gelastic seizures with hypothalamic hamartoma
  3254. Gelatinous drop-like corneal dystrophy
  3255. Geleophysic dysplasia
  3256. Gemignani syndrome
  3257. Gemistocytic astrocytoma
  3258. Generalized arterial calcification of infancy
  3259. Generalized basaloid follicular hamartoma syndrome
  3260. Generalized bulbospinal muscular atrophy
  3261. Generalized epilepsy-paroxysmal dyskinesia syndrome
  3262. Generalized eruptive histiocytosis
  3263. Generalized eruptive keratoacanthoma
  3264. Generalized essential telangiectasia
  3265. Generalized galactose epimerase deficiency
  3266. Generalized glucocorticoid resistance syndrome
  3267. Generalized isolated dystonia
  3268. Generalized juvenile polyposis/juvenile polyposis coli
  3269. Generalized peeling skin syndrome
  3270. Generalized pseudohypoaldosteronism type 1
  3271. Generalized pustular psoriasis
  3272. Generalized resistance to thyroid hormone
  3273. Genetic 46,XX difference of sex development
  3274. Genetic 46,XY difference of sex development
  3275. Genetic acrokeratoderma
  3276. Genetic alopecia
  3277. Genetic autoinflammatory syndrome with skin involvement
  3278. Genetic biliary tract disease
  3279. Genetic bone tumor
  3280. Genetic branchial arch or oral-acral syndrome
  3281. Genetic cardiac anomaly
  3282. Genetic cardiac malformation
  3283. Genetic cardiac rhythm disease
  3284. Genetic cardiac tumor
  3285. Genetic central nervous system malformation
  3286. Genetic central precocious puberty
  3287. Genetic central precocious puberty in female
  3288. Genetic central precocious puberty in male
  3289. Genetic cerebellar malformation
  3290. Genetic cerebral malformation
  3291. Genetic cerebral small vessel disease
  3292. Genetic chronic primary adrenal insufficiency
  3293. Genetic congenital limb malformation
  3294. Genetic corneal dystrophy
  3295. Genetic cranial malformation
  3296. Genetic cystic renal disease
  3297. Genetic dementia
  3298. Genetic dermis disorder
  3299. Genetic dermis elastic tissue disorder
  3300. Genetic developmental defect of the eye
  3301. Genetic difference of sex development
  3302. Genetic digestive tract malformation
  3303. Genetic digestive tract tumor
  3304. Genetic endocrine growth disease
  3305. Genetic epidermal appendage anomaly
  3306. Genetic epidermal disorder
  3307. Genetic epilepsy with febrile seizure plus
  3308. Genetic erythrokeratoderma
  3309. Genetic eye tumor
  3310. Genetic facial cleft
  3311. Genetic frontotemporal degeneration with dementia
  3312. Genetic gastro-esophageal disease
  3313. Genetic glomerular disease
  3314. Genetic gynecological tumor
  3315. Genetic hair anomaly
  3316. Genetic head and neck malformation
  3317. Genetic hemoglobinopathy
  3318. Genetic hemolytic uremic syndrome
  3319. Genetic hyperaldosteronism
  3320. Genetic hyperferritinemia without iron overload
  3321. Genetic hyperparathyroidism
  3322. Genetic hyperpigmentation of the skin
  3323. Genetic hypoparathyroidism
  3324. Genetic hypopigmentation of the skin
  3325. Genetic immune deficiency with skin involvement
  3326. Genetic infertility
  3327. Genetic inflammatory or rheumatoid-like osteoarthropathy
  3328. Genetic interstitial lung disease
  3329. Genetic intestinal disease
  3330. Genetic intestinal disease due to fat malabsorption
  3331. Genetic intestinal polyposis
  3332. Genetic intractable diarrhea of infancy
  3333. Genetic larynx anomaly
  3334. Genetic lens and zonula anomaly
  3335. Genetic lipodystrophy
  3336. Genetic malformation syndrome with short stature
  3337. Genetic mixed dermis disorder
  3338. Genetic motor neuron disease
  3339. Genetic multiple congenital anomalies/dysmorphic syndrome
  3340. Genetic nail anomaly
  3341. Genetic nephrotic syndrome
  3342. Genetic neuro-ophthalmological disease
  3343. Genetic neurodegenerative disease
  3344. Genetic neurodegenerative disease with dementia
  3345. Genetic neuroendocrine tumor
  3346. Genetic neurological muscular channelopathy
  3347. Genetic neuromuscular disease
  3348. Genetic neuromuscular junction disease
  3349. Genetic neurovascular malformation
  3350. Genetic non-syndromic central nervous system malformation
  3351. Genetic non-syndromic obesity
  3352. Genetic non-syndromic renal or urinary tract malformation
  3353. Genetic nose and cavum anomaly
  3354. Genetic obesity
  3355. Genetic otorhinolaryngologic disease
  3356. Genetic otorhinolaryngological malformation
  3357. Genetic overgrowth/obesity syndrome
  3358. Genetic pancreatic disease
  3359. Genetic parenchymatous liver disease
  3360. Genetic periodic paralysis
  3361. Genetic peripheral neuropathy
  3362. Genetic photodermatosis
  3363. Genetic pigmentation anomaly of the skin
  3364. Genetic polycythemia
  3365. Genetic polyendocrinopathy
  3366. Genetic porokeratosis
  3367. Genetic posterior fossa malformation
  3368. Genetic precocious puberty
  3369. Genetic precocious puberty in female
  3370. Genetic primary orthostatic disorder
  3371. Genetic primary orthostatic hypotension
  3372. Genetic progeroid syndrome
  3373. Genetic recurrent myoglobinuria
  3374. Genetic renal or urinary tract malformation
  3375. Genetic renal tubular disease
  3376. Genetic renal tumor
  3377. Genetic respiratory malformation
  3378. Genetic respiratory or mediastinal malformation
  3379. Genetic sebaceous gland anomaly
  3380. Genetic skeletal muscle disease
  3381. Genetic skin tumor or hamartoma
  3382. Genetic skin vascular disorder
  3383. Genetic soft tissue tumor
  3384. Genetic subcutaneous tissue disorder
  3385. Genetic superficial corneal dystrophy
  3386. Genetic syndrome with limb reduction defects
  3387. Genetic syndromic esophageal malformation
  3388. Genetic syndromic Pierre Robin syndrome
  3389. Genetic thrombotic microangiopathy
  3390. Genetic tracheal anomaly
  3391. Genetic transient congenital hypothyroidism
  3392. Genetic tumor of hematopoietic and lymphoid tissues
  3393. Genetic urogenital tract malformation
  3394. Genetic urogenital tumor
  3395. Genetic urticaria
  3396. Genetic vascular anomaly
  3397. Genitopalatocardiac syndrome
  3398. Genitopatellar syndrome
  3399. Genochondromatosis type 1
  3400. Genochondromatosis type 2
  3401. Geographic pattern capillary malformation
  3402. GERD or acid reflux
  3403. Germ cell tumor
  3404. Germ cell tumor of testis
  3405. German syndrome
  3406. Germinoma of the central nervous system
  3407. Geroderma osteodysplastica
  3408. Gerstmann syndrome
  3409. Gerstmann-Straussler-Scheinker syndrome
  3410. Gestational choriocarcinoma
  3411. Gestational trophoblastic disease
  3412. Gestational trophoblastic neoplasm
  3413. Ghosal hematodiaphyseal dysplasia
  3414. Giant adenofibroma of the breast
  3415. Giant axonal neuropathy
  3416. Giant cell arteritis
  3417. Giant cell glioblastoma
  3418. Giant cell tumor of bone
  3419. Giant omphalocele
  3420. Gingival fibromatosis-facial dysmorphism syndrome
  3421. Gingival fibromatosis-hypertrichosis syndrome
  3422. Gingival fibromatosis-progressive deafness syndrome
  3423. Gitelman syndrome
  3424. GJC2-related late-onset primary lymphedema
  3425. Glanders
  3426. Glanzmann thrombasthenia
  3427. Glassy cell carcinoma of the cervix uteri
  3428. Glaucoma
  3429. Glaucoma-sleep apnea syndrome
  3430. Glaucomatocyclitic crisis disease
  3431. Glial tumor
  3432. Glial tumor of neuroepithelial tissue with unknown origin
  3433. Glioblastoma
  3434. Glioependymal/ependymal cyst
  3435. Gliomatosis cerebri
  3436. Gliosarcoma
  3437. Global cerebellar malformation
  3438. Glomerular disease
  3439. Glomerulonephritis-sparse hair-telangiectasis syndrome
  3440. Glomus tumor
  3441. Glomuvenous malformation
  3442. Glossopalatine ankylosis
  3443. Glossopharyngeal neuralgia
  3444. Glucagonoma
  3445. Gluconeogenesis disorder
  3446. Glucose transport disorder
  3447. Glucose-galactose malabsorption
  3448. Glutamate-cysteine ligase deficiency
  3449. Glutaric acidemia type 3
  3450. Glutaryl-CoA dehydrogenase deficiency
  3451. Glutathione synthetase deficiency
  3452. Glutathione synthetase deficiency with 5-oxoprolinuria
  3453. Glutathione synthetase deficiency without 5-oxoprolinuria
  3454. Glycerol kinase deficiency
  3455. Glycerol kinase deficiency, adult form
  3456. Glycerol kinase deficiency, juvenile form
  3457. Glycine encephalopathy
  3458. Glycogen storage disease
  3459. Glycogen storage disease due to acid maltase deficiency
  3460. Glycogen storage disease due to aldolase A deficiency
  3461. Glycogen storage disease type 1c
  3462. Glycogen storage disease type 1d
  3463. Glycogen storage disease with hypertrophic cardiomyopathy
  3464. Glycoproteinosis
  3465. GM1 gangliosidosis
  3466. GM1 gangliosidosis type 1
  3467. GM1 gangliosidosis type 2
  3468. GM1 gangliosidosis type 3
  3469. GM2 gangliosidosis
  3470. GM2 gangliosidosis, AB variant
  3471. GM3 synthase deficiency
  3472. GMPPB-related limb-girdle muscular dystrophy R19
  3473. GMS syndrome
  3474. Gnathodiaphyseal dysplasia
  3475. GNE myopathy
  3476. Goblet cell carcinoma
  3477. Goldberg-Shprintzen megacolon syndrome
  3478. Goldenhar syndrome
  3479. Goldmann-Favre syndrome
  3480. Gollop-Wolfgang complex
  3481. Gomez-Lopez-Hernandez syndrome
  3482. Gonadal dysgenesis of gynecological interest
  3483. Gonadal germ cell tumor
  3484. Gonadoblastoma
  3485. Gonococcal conjunctivitis
  3486. Goodman syndrome
  3487. Gordon syndrome
  3488. Gorham-Stout disease
  3489. Gorlin syndrome
  3490. Gorlin-Chaudhry-Moss syndrome
  3491. Gout
  3492. GRACILE syndrome
  3493. Graft versus host disease
  3494. Graham Little-Piccardi-Lassueur syndrome
  3495. Grange syndrome
  3496. Grant syndrome
  3497. Granular corneal dystrophy type I
  3498. Granular corneal dystrophy type II
  3499. Granuloma faciale
  3500. Granulomatosis with polyangiitis
  3501. Granulomatous arthritis of childhood
  3502. Granulomatous autoinflammatory syndrome
  3503. Granulomatous autoinflammatory syndrome of childhood
  3504. Granulomatous mastitis
  3505. Granulomatous slack skin
  3506. Graves' disease
  3507. Gray platelet syndrome
  3508. Grayson-Wilbrandt corneal dystrophy
  3509. Greenberg dysplasia
  3510. Greig cephalopolysyndactyly syndrome
  3511. Greig cephalopolysyndactyly-contiguous gene syndrome
  3512. GRFoma
  3513. Griscelli syndrome
  3514. Griscelli syndrome type 1
  3515. Griscelli syndrome type 2
  3516. Griscelli syndrome type 3
  3517. Grisel syndrome
  3518. Growing teratoma syndrome
  3519. Growth deficiency-brachydactyly-dysmorphism syndrome
  3520. Growth delay-hydrocephaly-lung hypoplasia syndrome
  3521. Growth delay-intellectual disability-hepatopathy syndrome
  3522. Growth hormone insensitivity syndrome
  3523. Grubben-de Cock-Borghgraef syndrome
  3524. GTP cyclohydrolase I deficiency
  3525. Guanidinoacetate methyltransferase deficiency
  3526. Guillain-Barré syndrome
  3527. Guillain-Barre syndrome
  3528. Guttmacher syndrome
  3529. Gynandroblastoma
  3530. Gyrate atrophy of choroid and retina
  3531. H syndrome
  3532. Haddad syndrome
  3533. Haemochromatosis
  3534. Haemophilia
  3535. Hailey-Hailey disease
  3536. Haim-Munk syndrome
  3537. Hair anomaly
  3538. Hairy cell leukemia variant
  3539. Hajdu-Cheney syndrome
  3540. Hall-Riggs syndrome
  3541. Hallermann-Streiff syndrome
  3542. Hallermann-Streiff-like syndrome
  3543. Hallux varus-preaxial polysyndactyly syndrome
  3544. Hamel cerebro-palato-cardiac syndrome
  3545. HANAC syndrome
  3546. Hand-foot-genital syndrome
  3547. Hantavirus pulmonary syndrome
  3548. Hao-Fountain syndrome
  3549. Hao-Fountain syndrome due to 16p13.2 microdeletion
  3550. Hao-Fountain syndrome due to USP7 mutation
  3551. Harderoporphyria
  3552. Hardikar syndrome
  3553. Harlequin ichthyosis
  3554. Harlequin syndrome
  3555. HARP syndrome
  3556. Harrod syndrome
  3557. Hartnup disease
  3558. Hartsfield syndrome
  3559. Hashimoto's thyroiditis
  3560. Hawkinsinuria
  3561. Heart defect-tongue hamartoma-polysyndactyly syndrome
  3562. Heart defects-limb shortening syndrome
  3563. Heart disease
  3564. Heart failure
  3565. Heart position anomaly
  3566. Heart-hand syndrome
  3567. Heart-hand syndrome type 2
  3568. Heart-hand syndrome type 3
  3569. Heart-hand syndrome, Slovenian type
  3570. Heavy chain deposition disease
  3571. Heavy chain disease
  3572. HEC syndrome
  3573. Heiner syndrome
  3574. Helicoid peripapillary chorioretinal degeneration
  3575. HELLP syndrome
  3576. Helsmoortel-Van der Aa syndrome
  3577. Hemangioblastoma
  3578. Hematological disorder with renal involvement
  3579. Heme oxygenase-1 deficiency
  3580. Hemi-myelomeningocele
  3581. Hemi-myeloschisis
  3582. Hemiconvulsion-hemiplegia-epilepsy syndrome
  3583. Hemicrania continua
  3584. Hemidystonia-hemiatrophy syndrome
  3585. Hemifacial hyperplasia
  3586. Hemifacial myohyperplasia
  3587. Hemifacial spasm
  3588. Hemihyperplasia-multiple lipomatosis syndrome
  3589. Hemimegalencephaly
  3590. Hemiparkinsonism-hemiatrophy syndrome
  3591. Hemoglobin Bart's fetalis syndrome
  3592. Hemoglobin C disease
  3593. Hemoglobin C-beta-thalassemia syndrome
  3594. Hemoglobin D disease
  3595. Hemoglobin E disease
  3596. Hemoglobin E-beta-thalassemia intermedia
  3597. Hemoglobin E-beta-thalassemia major
  3598. Hemoglobin E-beta-thalassemia syndrome
  3599. Hemoglobin H disease
  3600. Hemoglobin Lepore-beta-thalassemia intermedia
  3601. Hemoglobin Lepore-beta-thalassemia major
  3602. Hemoglobin Lepore-beta-thalassemia syndrome
  3603. Hemoglobin M disease
  3604. Hemoglobinopathy
  3605. Hemolytic anemia due to a disorder of glycolytic enzymes
  3606. Hemolytic anemia due to adenylate kinase deficiency
  3607. Hemolytic anemia due to diphosphoglycerate mutase deficiency
  3608. Hemolytic anemia due to glucophosphate isomerase deficiency
  3609. Hemolytic anemia due to glutathione reductase deficiency
  3610. Hemolytic anemia due to red cell pyruvate kinase deficiency
  3611. Hemolytic disease due to fetomaternal alloimmunization
  3612. Hemolytic uremic syndrome
  3613. Hemolytic uremic syndrome with DGKE deficiency
  3614. Hemophagocytic syndrome
  3615. Hemophagocytic syndrome associated with an infection
  3616. Hemophilia
  3617. Hemophilia A
  3618. Hemophilia B
  3619. Hemophilia B Leyden
  3620. Hemorrhagic fever-renal syndrome
  3621. Hendra virus infection
  3622. Hennekam syndrome
  3623. Hepatic arteriovenous malformation
  3624. Hepatic cutaneous porphyria
  3625. Hepatic cystic hamartoma
  3626. Hepatic porphyria
  3627. Hepatic veno-occlusive disease
  3628. Hepatic veno-occlusive disease-immunodeficiency syndrome
  3629. Hepatitis B
  3630. Hepatitis B reinfection following liver transplantation
  3631. Hepatitis C
  3632. Hepatitis delta
  3633. Hepatoblastoma
  3634. Hepatocellular adenoma
  3635. Hepatocellular carcinoma
  3636. Hepatoerythropoietic porphyria
  3637. Hepatoportal sclerosis
  3638. Hepatosplenic T-cell lymphoma
  3639. Hereditary acrokeratotic poikiloderma
  3640. Hereditary amyloidosis
  3641. Hereditary amyloidosis with primary renal involvement
  3642. Hereditary angioedema
  3643. Hereditary angioedema type 1
  3644. Hereditary angioedema type 2
  3645. Hereditary angioedema with C1Inh deficiency
  3646. Hereditary angioedema with normal C1Inh
  3647. Hereditary arginine vasopressin deficiency
  3648. Hereditary ataxia
  3649. Hereditary atrial fibrillation
  3650. Hereditary ATTR amyloidosis
  3651. Hereditary benign intraepithelial dyskeratosis
  3652. Hereditary breast and/or ovarian cancer syndrome
  3653. Hereditary breast cancer
  3654. Hereditary bullous dystrophy, macular type
  3655. Hereditary butyrylcholinesterase deficiency
  3656. Hereditary cerebral amyloid angiopathy
  3657. Hereditary clear cell renal cell carcinoma
  3658. Hereditary continuous muscle fiber activity
  3659. Hereditary coproporphyria
  3660. Hereditary cryohydrocytosis with normal stomatin
  3661. Hereditary cryohydrocytosis with reduced stomatin
  3662. Hereditary dentin defect
  3663. Hereditary diffuse gastric cancer
  3664. Hereditary elliptocytosis
  3665. Hereditary episodic ataxia
  3666. Hereditary folate malabsorption
  3667. Hereditary fructose intolerance
  3668. Hereditary gastric cancer
  3669. Hereditary geniospasm
  3670. Hereditary gingival fibromatosis
  3671. Hereditary hemorrhagic telangiectasia
  3672. Hereditary hypercarotenemia and vitamin A deficiency
  3673. Hereditary hyperekplexia
  3674. Hereditary hyperferritinemia-cataract syndrome
  3675. Hereditary hypophosphatemic rickets with hypercalciuria
  3676. Hereditary hypotrichosis with recurrent skin vesicles
  3677. Hereditary inclusion body myopathy type 4
  3678. Hereditary isolated aplastic anemia
  3679. Hereditary late-onset Parkinson disease
  3680. Hereditary leiomyomatosis and renal cell cancer
  3681. Hereditary mixed polyposis syndrome
  3682. Hereditary motor and sensory neuropathy type 5
  3683. Hereditary motor and sensory neuropathy type 6
  3684. Hereditary motor and sensory neuropathy with acrodystrophy
  3685. Hereditary motor and sensory neuropathy, Okinawa type
  3686. Hereditary mucoepithelial dysplasia
  3687. Hereditary myopathy with early respiratory failure
  3688. Hereditary neurocutaneous malformation
  3689. Hereditary neuroendocrine tumor of small intestine
  3690. Hereditary neuropathy with liability to pressure palsies
  3691. Hereditary neutrophilia
  3692. Hereditary nonpolyposis colon cancer
  3693. Hereditary North American Indian childhood cirrhosis
  3694. Hereditary optic neuropathy
  3695. Hereditary orotic aciduria
  3696. Hereditary painful callosities
  3697. Hereditary palmoplantar keratoderma
  3698. Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
  3699. Hereditary papillary renal cell carcinoma
  3700. Hereditary periodic fever syndrome
  3701. Hereditary persistence of alpha-fetoprotein
  3702. Hereditary pheochromocytoma-paraganglioma
  3703. Hereditary poikiloderma
  3704. Hereditary progressive cardiac conduction defect
  3705. Hereditary progressive mucinous histiocytosis
  3706. Hereditary pulmonary alveolar proteinosis
  3707. Hereditary pyropoikilocytosis
  3708. Hereditary renal hypouricemia
  3709. Hereditary retinoblastoma
  3710. Hereditary sclerosing poikiloderma, Weary type
  3711. Hereditary sensorimotor neuropathy with hyperelastic skin
  3712. Hereditary sensory and autonomic neuropathy
  3713. Hereditary sensory and autonomic neuropathy type 1
  3714. Hereditary sensory and autonomic neuropathy type 1B
  3715. Hereditary sensory and autonomic neuropathy type 2
  3716. Hereditary sensory and autonomic neuropathy type 4
  3717. Hereditary sensory and autonomic neuropathy type 5
  3718. Hereditary sensory and autonomic neuropathy type 6
  3719. Hereditary sensory and autonomic neuropathy type 7
  3720. Hereditary sensory and autonomic neuropathy type 8
  3721. Hereditary sensory neuropathy-deafness-dementia syndrome
  3722. Hereditary sick sinus syndrome
  3723. Hereditary site-specific ovarian cancer syndrome
  3724. Hereditary spastic paraplegia
  3725. Hereditary spherocytosis
  3726. Hereditary steroid-resistant nephrotic syndrome
  3727. Hereditary stomatocytosis
  3728. Hereditary thermosensitive neuropathy
  3729. Hereditary thrombocytopenia with normal platelets
  3730. Hereditary vascular retinopathy
  3731. Hereditary xanthinuria
  3732. Heritable pulmonary arterial hypertension
  3733. Hermansky-Pudlak syndrome
  3734. Hermansky-Pudlak syndrome due to AP-3 deficiency
  3735. Hermansky-Pudlak syndrome due to AP3B1 deficiency
  3736. Hermansky-Pudlak syndrome due to BLOC-1 deficiency
  3737. Hermansky-Pudlak syndrome due to BLOC-2 deficiency
  3738. Hermansky-Pudlak syndrome due to BLOC-3 deficiency
  3739. Hermansky-Pudlak syndrome type 8
  3740. Hermansky-Pudlak syndrome type 9
  3741. Hernandez-Aguirre Negrete syndrome
  3742. HERNS syndrome
  3743. Herpes simplex virus encephalitis
  3744. Herpes simplex virus stromal keratitis
  3745. Herpetiform pemphigus
  3746. HHV-8-associated multicentric Castleman disease
  3747. Hiatal hernia
  3748. HIDEA syndrome
  3749. Hidradenitis suppurativa
  3750. Hidrotic ectodermal dysplasia
  3751. Hidrotic ectodermal dysplasia, Christianson-Fourie type
  3752. Hidrotic ectodermal dysplasia, Halal type
  3753. High altitude pulmonary edema
  3754. High bone mass osteogenesis imperfecta
  3755. High cholesterol
  3756. High myopia-sensorineural deafness syndrome
  3757. High-grade astrocytoma
  3758. High-grade astrocytoma with piloid features
  3759. High-grade dysplasia in patients with Barrett esophagus
  3760. High-grade neuroendocrine carcinoma of the cervix uteri
  3761. High-grade neuroendocrine carcinoma of the corpus uteri
  3762. Hinman syndrome
  3763. Hip dysplasia, Beukes type
  3764. Hirschsprung disease
  3765. Hirschsprung disease-deafness-polydactyly syndrome
  3766. Hirschsprung disease-ganglioneuroblastoma syndrome
  3767. Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
  3768. Hirschsprung disease-type D brachydactyly syndrome
  3769. His bundle tachycardia
  3770. Histamine intolerance
  3771. Histidinemia
  3772. Histidinuria-renal tubular defect syndrome
  3773. Histiocytic and dendritic cell tumor
  3774. Histiocytic sarcoma
  3775. Histiocytoid cardiomyopathy
  3776. Histoplasmosis
  3777. HIV
  3778. HIV-associated cancer
  3779. HJV or HAMP-related hemochromatosis
  3780. HNRNPA1-related adult-onset distal myopathy
  3781. HNRNPDL-related limb-girdle muscular dystrophy D3
  3782. Hobnail hemangioma
  3783. Hodgkin lymphoma
  3784. Holmes-Adie syndrome
  3785. Holmes-Gang syndrome
  3786. Holocarboxylase synthetase deficiency
  3787. Holoprosencephaly
  3788. Holoprosencephaly-caudal dysgenesis syndrome
  3789. Holoprosencephaly-craniosynostosis syndrome
  3790. Holoprosencephaly-postaxial polydactyly syndrome
  3791. Holoprosencephaly-radial heart renal anomalies syndrome
  3792. Holt-Oram syndrome
  3793. Holzgreve syndrome
  3794. Homocarnosinosis
  3795. Homocystinuria due to cystathionine beta-synthase deficiency
  3796. Homocystinuria without methylmalonic aciduria
  3797. Homozygous 2p21 microdeletion syndrome
  3798. Homozygous familial hypercholesterolemia
  3799. Homozygous hemoglobin O Arab disease
  3800. Homozygous hereditary elliptocytosis
  3801. Horizontal gaze palsy with progressive scoliosis
  3802. Hot water reflex epilepsy
  3803. Hoyeraal-Hreidarsson syndrome
  3804. HSD10 disease
  3805. HSD10 disease, atypical type
  3806. HSD10 disease, infantile type
  3807. HSD10 disease, neonatal type
  3808. HTRA1-related cerebral small vessel disease
  3809. Hughes-Stovin syndrome
  3810. Human herpesvirus 8-related disorder
  3811. Human infection by orthopoxvirus
  3812. Human prion disease
  3813. Humerospinal dysostosis
  3814. Humerus trochlea aplasia
  3815. Hunter-Carpenter-McDonald syndrome
  3816. Hunter-McAlpine syndrome
  3817. Huntington disease
  3818. Huntington disease-like 1
  3819. Huntington disease-like 2
  3820. Huntington disease-like 3
  3821. Huntington disease-like syndrome
  3822. Huntington’s disease
  3823. Huriez syndrome
  3824. Hurler syndrome
  3825. Hurler-Scheie syndrome
  3826. Hutchinson-Gilford progeria syndrome
  3827. Hyaline fibromatosis syndrome
  3828. Hyaluronidase deficiency
  3829. Hydatidiform mole
  3830. Hydranencephaly
  3831. Hydroa vacciniforme
  3832. Hydroa vacciniforme-like lymphoma
  3833. Hydrocephalus with stenosis of the aqueduct of Sylvius
  3834. Hydrocephalus-blue sclerae-nephropathy syndrome
  3835. Hydrocephalus-obesity-hypogonadism syndrome
  3836. Hydrocephaly-cerebellar agenesis syndrome
  3837. Hydrocephaly-low insertion umbilicus syndrome
  3838. Hydrocephaly-tall stature-joint laxity syndrome
  3839. Hydrolethalus
  3840. Hydrops fetalis
  3841. Hydroxykynureninuria
  3842. Hymenolepiasis
  3843. Hyper-beta-alaninemia
  3844. Hyper-IgE syndrome
  3845. Hyper-IgM syndrome type 2
  3846. Hyper-IgM syndrome type 3
  3847. Hyper-IgM syndrome type 4
  3848. Hyper-IgM syndrome type 5
  3849. Hyperammonemia due to N-acetylglutamate synthase deficiency
  3850. Hyperandrogenism due to cortisone reductase deficiency
  3851. Hyperbiliverdinemia
  3852. Hypercontractile muscle stiffness syndrome
  3853. Hyperekplexia
  3854. Hyperekplexia-epilepsy syndrome
  3855. Hypereosinophilic syndrome
  3856. Hypergonadotropic hypogonadism-cataract syndrome
  3857. Hyperhidrosis
  3858. Hyperimmunoglobulinemia D with periodic fever
  3859. Hyperinsulinemic hypoglycaemia
  3860. Hyperinsulinism due to HNF1A deficiency
  3861. Hyperinsulinism due to INSR deficiency
  3862. Hyperinsulinism due to UCP2 deficiency
  3863. Hyperinsulinism-hyperammonemia syndrome
  3864. Hyperkalemic periodic paralysis
  3865. Hyperkeratosis lenticularis perstans
  3866. Hyperkeratosis-hyperpigmentation syndrome
  3867. Hyperlipoproteinemia type 1
  3868. Hyperlysinemia
  3869. Hypermobile Ehlers-Danlos syndrome
  3870. Hypermobility spectrum disorder
  3871. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  3872. Hyperostosis corticalis generalisata
  3873. Hyperostosis cranialis interna
  3874. Hyperparathyroidism-jaw tumor syndrome
  3875. Hyperphenylalaninemia due to DNAJC12 deficiency
  3876. Hyperphosphatasia-intellectual disability syndrome
  3877. Hyperpigmentation of the skin
  3878. Hyperpituitarism
  3879. Hyperprolinemia type 1
  3880. Hyperprolinemia type 2
  3881. Hypersensitivity pneumonitis
  3882. Hypertelorism-hypospadias-polysyndactyly syndrome
  3883. Hypertelorism-microtia-facial clefting syndrome
  3884. Hypertension
  3885. Hyperthyroidism
  3886. Hypertrichosis cubiti
  3887. Hypertrichosis lanuginosa congenita
  3888. Hypertrichosis-acromegaloid facial appearance syndrome
  3889. Hypertrophic olivary degeneration
  3890. Hypertrophic or verrucous lupus erythematosus
  3891. Hypertryptophanemia
  3892. Hyperzincemia and hypercalprotectinemia
  3893. Hypnic headache
  3894. Hypoalphalipoproteinemia
  3895. Hypobetalipoproteinemia
  3896. Hypocalcemic rickets
  3897. Hypocalcemic vitamin D-dependent rickets
  3898. Hypocalcemic vitamin D-resistant rickets
  3899. Hypocalcified amelogenesis imperfecta
  3900. Hypochondrogenesis
  3901. Hypochondroplasia
  3902. Hypocomplementemic urticarial vasculitis
  3903. Hypodontia-dysplasia of nails syndrome
  3904. Hypoglossia-hypodactyly syndrome
  3905. Hypoglossia/aglossia
  3906. Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
  3907. Hypohidrotic ectodermal dysplasia
  3908. Hypohidrotic ectodermal dysplasia with immunodeficiency
  3909. Hypoinsulinemic hypoglycemia and body hemihypertrophy
  3910. Hypokalemic periodic paralysis
  3911. Hypomandibular faciocranial dysostosis
  3912. Hypomaturation amelogenesis imperfecta
  3913. Hypomyelination neuropathy-arthrogryposis syndrome
  3914. Hypomyelination of early myelinating structures
  3915. Hypomyelination-congenital cataract syndrome
  3916. Hypoparathyroidism
  3917. Hypophosphatasia
  3918. Hypophosphatemic rickets
  3919. Hypopigmentation of the skin
  3920. Hypopituitarism-micropenis-cleft lip/palate syndrome
  3921. Hypopituitarism-microphthalmia syndrome
  3922. Hypoplasia of the mitral valve annulus
  3923. Hypoplasminogenemia
  3924. Hypoplastic amelogenesis imperfecta
  3925. Hypoplastic left heart syndrome
  3926. Hypoplastic right heart syndrome
  3927. Hypoplastic tibiae-postaxial polydactyly syndrome
  3928. Hypospadias-hypertelorism-coloboma and deafness syndrome
  3929. Hypothalamic adipsic hypernatraemia syndrome
  3930. Hypothyroidism
  3931. Hypothyroidism due to TSH receptor mutations
  3932. Hypotonia with lactic acidemia and hyperammonemia
  3933. Hypotonia-cystinuria syndrome
  3934. Hypotonia-cystinuria type 1 syndrome
  3935. Hypotonia-failure to thrive-microcephaly syndrome
  3936. Hypotrichosis simplex
  3937. Hypotrichosis simplex of the scalp
  3938. Hypotrichosis with juvenile macular degeneration
  3939. Hypotrichosis-deafness syndrome
  3940. Hypotrichosis-intellectual disability, Lopes type
  3941. Hypoxanthine-guanine phosphoribosyltransferase deficiency
  3942. Iatrogenic botulism
  3943. Iatrogenic Creutzfeldt-Jakob disease
  3944. IBD
  3945. IBIDS syndrome
  3946. IBS
  3947. ICF syndrome
  3948. ICHAD syndrome
  3949. Ichthyosis
  3950. Ichthyosis follicularis-alopecia-photophobia syndrome
  3951. Ichthyosis hystrix gravior
  3952. Ichthyosis hystrix of Curth-Macklin
  3953. Ichthyosis-hypotrichosis syndrome
  3954. Ichthyosis-male hypogonadism syndrome
  3955. Ichthyosis-oral and digital anomalies syndrome
  3956. Ichthyosis-prematurity syndrome
  3957. Idiopathic achalasia
  3958. Idiopathic acute eosinophilic pneumonia
  3959. Idiopathic acute transverse myelitis
  3960. Idiopathic aplastic anemia
  3961. Idiopathic avascular necrosis
  3962. Idiopathic bilateral vestibulopathy
  3963. Idiopathic bronchiectasis
  3964. Idiopathic camptocormia
  3965. Idiopathic catatonia
  3966. Idiopathic CD4 lymphocytopenia
  3967. Idiopathic chronic eosinophilic pneumonia
  3968. Idiopathic chronic pancreatitis
  3969. Idiopathic congenital hypothyroidism
  3970. Idiopathic copper-associated cirrhosis
  3971. Idiopathic dropped head syndrome
  3972. Idiopathic ductopenia
  3973. Idiopathic eosinophilic myositis
  3974. Idiopathic eosinophilic pneumonia
  3975. Idiopathic gastroparesis
  3976. Idiopathic giant cell myocarditis
  3977. Idiopathic hypercalciuria
  3978. Idiopathic hypereosinophilic syndrome
  3979. Idiopathic hypersomnia
  3980. Idiopathic inflammatory myopathy
  3981. Idiopathic interstitial pneumonia
  3982. Idiopathic intracranial hypertension
  3983. Idiopathic isolated micropenis
  3984. Idiopathic juvenile osteoporosis
  3985. Idiopathic linear interstitial keratitis
  3986. Idiopathic localized lipodystrophy
  3987. Idiopathic macular telangiectasia type 1
  3988. Idiopathic macular telangiectasia type 3
  3989. Idiopathic multicentric Castleman disease
  3990. Idiopathic multidrug-resistant nephrotic syndrome
  3991. Idiopathic multifocal choroiditis
  3992. Idiopathic neonatal atrial flutter
  3993. Idiopathic nephrotic syndrome
  3994. Idiopathic non-lupus full-house nephropathy
  3995. Idiopathic optic perineuritis
  3996. Idiopathic panuveitis
  3997. Idiopathic peliosis hepatis
  3998. Idiopathic phalangeal acro-osteolysis
  3999. Idiopathic pleuroparenchymal fibroelastosis
  4000. Idiopathic posterior uveitis
  4001. Idiopathic pregnancy-associated osteoporosis
  4002. Idiopathic pulmonary arterial hypertension
  4003. Idiopathic pulmonary artery dilatation
  4004. Idiopathic pulmonary fibrosis
  4005. Idiopathic pulmonary hemosiderosis
  4006. Idiopathic recurrent pericarditis
  4007. Idiopathic recurrent stupor
  4008. Idiopathic scleritis
  4009. Idiopathic small fibers neuropathy
  4010. Idiopathic spontaneous coronary artery dissection
  4011. Idiopathic steroid-resistant nephrotic syndrome
  4012. Idiopathic steroid-sensitive nephrotic syndrome
  4013. Idiopathic subglottic stenosis
  4014. Idiopathic syringomyelia
  4015. Idiopathic trachyonychia
  4016. Idiopathic triglyceride deposit cardiomyovasculopathy
  4017. Idiopathic uveal effusion syndrome
  4018. Idiopathic ventricular fibrillation
  4019. Idiopathic/heritable pulmonary arterial hypertension
  4020. IFIH1-related hereditary spastic paraplegia
  4021. IgA pemphigus
  4022. IgG4-related aortitis
  4023. IgG4-related dacryoadenitis and sialadenitis
  4024. IgG4-related disease
  4025. IgG4-related kidney disease
  4026. IgG4-related mediastinitis
  4027. IgG4-related mesenteritis
  4028. IgG4-related ophthalmic disease
  4029. IgG4-related pachymeningitis
  4030. IgG4-related retroperitoneal fibrosis
  4031. IgG4-related sclerosing cholangitis
  4032. IgG4-related submandibular gland disease
  4033. IgG4-related systemic disease
  4034. IgG4-related thyroid disease
  4035. IL21-related infantile inflammatory bowel disease
  4036. Ileal neuroendocrine tumor
  4037. Ileal pouch anal anastomosis related faecal incontinence
  4038. Imagawa-Matsumoto syndrome
  4039. IMAGe syndrome
  4040. Imerslund-Grasbeck syndrome
  4041. Iminoglycinuria
  4042. Immune checkpoint inhibitor-induced myositis
  4043. Immune complex mediated vasculitis
  4044. Immune deficiency with skin involvement
  4045. Immune dysregulation disease with immunodeficiency
  4046. Immune hydrops fetalis
  4047. Immune thrombocytopenia
  4048. Immune-mediated acquired neuromuscular junction disease
  4049. Immune-mediated cerebellar ataxia
  4050. Immune-mediated necrotizing myopathy
  4051. Immune-mediated scleritis
  4052. Immune-mediated thrombotic thrombocytopenic purpura
  4053. Immuno-osseous dysplasia
  4054. Immunodeficiency by defective expression of MHC class I
  4055. Immunodeficiency by defective expression of MHC class II
  4056. Immunodeficiency due to CD25 deficiency
  4057. Immunodeficiency due to ficolin3 deficiency
  4058. Immunodeficiency due to MASP-2 deficiency
  4059. Immunodeficiency syndrome with autoimmunity
  4060. Immunodeficiency with factor H anomaly
  4061. Immunodeficiency with factor I anomaly
  4062. Immunodeficiency-associated lymphoproliferative disease
  4063. Immunoglobulin A nephropathy
  4064. Immunoglobulin A vasculitis
  4065. Immunoglobulin heavy chain deficiency
  4066. Immunotactoid glomerulopathy
  4067. Immunotactoid or fibrillary glomerulopathy
  4068. Immunotherapy induced hypophysitis
  4069. Imperforate oropharynx-costovertebral anomalies syndrome
  4070. Imprinting disorders
  4071. Inappropriate sinus tachycardia
  4072. Incessant infant ventricular tachycardia
  4073. Inclusion body myositis
  4074. Inclusion myopathy
  4075. Incomplete septal cirrhosis
  4076. Incontinentia pigmenti
  4077. Indeterminate cell histiocytosis
  4078. Indolent B-cell non-Hodgkin lymphoma
  4079. Indolent primary cutaneous B-cell lymphoma
  4080. Indolent primary cutaneous T-cell lymphoma
  4081. Indolent systemic mastocytosis
  4082. Indomethacin embryofetopathy
  4083. Infant acute respiratory distress syndrome
  4084. Infant botulism
  4085. Infant-type hemispheric glioma
  4086. Infant-type hemispheric glioma ALK-altered
  4087. Infant-type hemispheric glioma MET-altered
  4088. Infant-type hemispheric glioma NTRK-altered
  4089. Infant-type hemispheric glioma ROS1-altered
  4090. Infantile apnea
  4091. Infantile bilateral striatal necrosis
  4092. Infantile cerebellar-retinal degeneration
  4093. Infantile choroidocerebral calcification syndrome
  4094. Infantile CLN1 disease
  4095. Infantile CLN2 disease
  4096. Infantile convulsions and choreoathetosis
  4097. Infantile digital fibromatosis
  4098. Infantile dystonia-parkinsonism
  4099. Infantile epileptic spasms syndrome
  4100. Infantile epileptic-dyskinetic encephalopathy
  4101. Infantile glycine encephalopathy
  4102. Infantile hypophosphatasia
  4103. Infantile Krabbe disease
  4104. Infantile LAD-like disease due to RAC2 deficiency
  4105. Infantile mercury poisoning
  4106. Infantile myofibromatosis
  4107. Infantile nephronophthisis
  4108. Infantile nephropathic cystinosis
  4109. Infantile neuroaxonal dystrophy
  4110. Infantile neurovisceral acid sphingomyelinase deficiency
  4111. Infantile osteopetrosis with neuroaxonal dysplasia
  4112. Infantile Refsum disease
  4113. Infantile spasms-broad thumbs syndrome
  4114. Infantile systemic hyalinosis
  4115. Infantile-onset ascending hereditary spastic paralysis
  4116. Infantile-onset spinocerebellar ataxia
  4117. Infantile-onset X-linked spinal muscular atrophy
  4118. Infection-related hemolytic uremic syndrome
  4119. Infectious anterior uveitis
  4120. Infectious disease of the nervous system
  4121. Infectious disease with dementia
  4122. Infectious disease with epilepsy
  4123. Infectious disease with peripheral neuropathy
  4124. Infectious embryofetopathy
  4125. Infectious encephalitis
  4126. Infectious epithelial keratitis
  4127. Infectious panuveitis
  4128. Infectious posterior uveitis
  4129. Infectious scleritis
  4130. Infectious, fungal or parasitic myopathy
  4131. Infective dermatitis associated with HTLV-1
  4132. Infective endocarditis
  4133. Infective keratitis
  4134. Infertility
  4135. Inflammatory and autoimmune disease with epilepsy
  4136. Inflammatory breast cancer
  4137. Inflammatory linear verrucous epidermal nevus
  4138. Inflammatory myofibroblastic tumor
  4139. Inflammatory myopathy with abundant macrophages
  4140. Inflammatory pseudotumor of the liver
  4141. Infundibulo-neurohypophysitis
  4142. Inhalational anthrax
  4143. Inhalational botulism
  4144. Inherited acute myeloid leukemia
  4145. Inherited arrhythmogenic cardiomyopathy
  4146. Inherited cancer-predisposing syndrome
  4147. Inherited congenital spastic tetraplegia
  4148. Inherited Creutzfeldt-Jakob disease
  4149. Inherited digestive cancer-predisposing syndrome
  4150. Inherited epidermodysplasia verruciformis
  4151. Inherited epidermolysis bullosa
  4152. Inherited gynecological cancer-predisposing syndrome
  4153. Inherited hematologic cancer-predisposing syndrome
  4154. Inherited human prion disease
  4155. Inherited ichthyosis
  4156. Inherited ichthyosis syndromic form
  4157. Inherited isolated arrhythmogenic cardiomyopathy
  4158. Inherited nervous system cancer-predisposing syndrome
  4159. Inherited non-syndromic ichthyosis
  4160. Inherited renal cancer-predisposing syndrome
  4161. Iniencephaly
  4162. Insomnia
  4163. Insulin autoimmune syndrome
  4164. Insulin-resistance syndrome type A
  4165. Insulin-resistance syndrome type B
  4166. Insulinoma
  4167. Intellectual disability, Buenos-Aires type
  4168. Intellectual disability, Wolff type
  4169. Intellectual disability-alacrima-achalasia syndrome
  4170. Intellectual disability-cupped ears syndrome
  4171. Intellectual disability-epilepsy-extrapyramidal syndrome
  4172. Intellectual disability-spasticity-ectrodactyly syndrome
  4173. Intellectual disability-strabismus syndrome
  4174. Interatrial communication
  4175. Interdigitating dendritic cell sarcoma
  4176. Intermediate atrioventricular septal defect
  4177. Intermediate Charcot-Marie-Tooth disease
  4178. Intermediate collagen VI-related muscular dystrophy
  4179. Intermediate DEND syndrome
  4180. Intermediate generalized junctional epidermolysis bullosa
  4181. Intermediate maple syrup urine disease
  4182. Intermediate nemaline myopathy
  4183. Intermediate osteopetrosis
  4184. Intermediate severe Salla disease
  4185. Intermediate uveitis
  4186. Intermittent hydrarthrosis
  4187. Intermittent maple syrup urine disease
  4188. Intermittent neutropenia
  4189. Internal carotid absence
  4190. Interstitial cystitis
  4191. Interstitial granulomatous dermatitis with arthritis
  4192. Interstitial lung disease
  4193. Interstitial lung disease due to ABCA3 deficiency
  4194. Interstitial lung disease due to SP-C deficiency
  4195. Interstitial lung disease in childhood and adulthood
  4196. Interstitial lung disease specific to adulthood
  4197. Interstitial lung disease specific to childhood
  4198. Interstitial lung disease specific to infancy
  4199. Interstitial lung disease-brain calcification syndrome
  4200. Interventricular septum aneurysm
  4201. Intestinal botulism
  4202. Intestinal disease due to fat malabsorption
  4203. Intestinal disease due to vitamin absorption anomaly
  4204. Intestinal lymphangiectasia
  4205. Intestinal malformation
  4206. Intestinal polyposis syndrome
  4207. Intracranial fast-flow vascular malformation
  4208. Intractable diarrhea of infancy
  4209. Intraductal papillary mucinous carcinoma of pancreas
  4210. Intraductal tubulopapillary neoplasm of pancreas
  4211. Intrahepatic cholestasis of pregnancy
  4212. Intralobar congenital pulmonary sequestration
  4213. Intramedullary non-dysraphic spinal cord lipoma
  4214. Intramuscular fast-flow vascular anomaly
  4215. Intraneural perineurioma
  4216. Intraocular medulloepithelioma
  4217. Intraoral basal cell carcinoma
  4218. Intraosseous venous malformation
  4219. Intravascular large B-cell lymphoma
  4220. Intravascular papillary endothelial hyperplasia
  4221. Invasive candidiasis
  4222. Invasive mole
  4223. Invasive non-typhoidal salmonellosis
  4224. Invasive scopulariopsis infection
  4225. Inverse Klippel-Trenaunay syndrome
  4226. Inverse Marcus-Gunn phenomenon
  4227. Inverted duplicated chromosome 15 syndrome
  4228. IRIDA syndrome
  4229. Iridocorneal endothelial syndrome
  4230. IRVAN syndrome
  4231. Isaacs syndrome
  4232. Ischio-vertebral syndrome
  4233. Isobutyryl-CoA dehydrogenase deficiency
  4234. Isochromosome Y syndrome
  4235. Isochromosomy Yp syndrome
  4236. Isochromosomy Yq syndrome
  4237. Isolated absence of both forearm and hand
  4238. Isolated absence of both lower leg and foot
  4239. Isolated absence of thigh and lower leg with foot present
  4240. Isolated acheiria
  4241. Isolated acheiropodia
  4242. Isolated adrenal medullary hyperplasia
  4243. Isolated agenesis of gallbladder
  4244. Isolated amelia of lower limb
  4245. Isolated amelia of upper limb
  4246. Isolated amyelia
  4247. Isolated anal canal duplication
  4248. Isolated anencephaly
  4249. Isolated anencephaly/exencephaly
  4250. Isolated angioid streaks
  4251. Isolated aniridia
  4252. Isolated ankyloblepharon filiforme adnatum
  4253. Isolated anogenital granulomatosis
  4254. Isolated anterior cervical hypertrichosis
  4255. Isolated apodia
  4256. Isolated arhinencephaly
  4257. Isolated arrhinia
  4258. Isolated asymptomatic elevation of creatine phosphokinase
  4259. Isolated ATP synthase deficiency
  4260. Isolated atrial standstill
  4261. Isolated bilateral hemispheric cerebellar hypoplasia
  4262. Isolated biliary atresia
  4263. Isolated blepharochalasis
  4264. Isolated bone marrow mastocytosis
  4265. Isolated cerebellar agenesis
  4266. Isolated cerebellar vermis agenesis
  4267. Isolated cerebellar vermis hypoplasia
  4268. Isolated childhood apraxia of speech
  4269. Isolated cleft lip
  4270. Isolated colonic duplication
  4271. Isolated complex I deficiency
  4272. Isolated complex III deficiency
  4273. Isolated congenital adermatoglyphia
  4274. Isolated congenital aglossia
  4275. Isolated congenital alacrima
  4276. Isolated congenital anonychia
  4277. Isolated congenital anosmia
  4278. Isolated congenital auditory ossicle malformation
  4279. Isolated congenital breast hypoplasia/aplasia
  4280. Isolated congenital cholesteatoma of the middle ear
  4281. Isolated congenital ectropion
  4282. Isolated congenital entropion
  4283. Isolated congenital femoral bifurcation
  4284. Isolated congenital hepatic fibrosis
  4285. Isolated congenital hypoglossia
  4286. Isolated congenital hypoglossia/aglossia
  4287. Isolated congenital hypogonadotropic hypogonadism
  4288. Isolated congenital laryngeal web
  4289. Isolated congenital megalocornea
  4290. Isolated congenital microcephaly
  4291. Isolated congenital nasal pyriform aperture stenosis
  4292. Isolated congenital onychodysplasia
  4293. Isolated congenital radial head dislocation
  4294. Isolated congenital sclerocornea
  4295. Isolated congenital syngnathia
  4296. Isolated constitutional thrombocytopenia
  4297. Isolated corpus callosum agenesis
  4298. Isolated cryptophthalmia
  4299. Isolated cytochrome C oxidase deficiency
  4300. Isolated Dandy-Walker malformation
  4301. Isolated Dandy-Walker malformation with hydrocephalus
  4302. Isolated Dandy-Walker malformation without hydrocephalus
  4303. Isolated delta-storage pool disease
  4304. Isolated diffuse palmoplantar keratoderma
  4305. Isolated digestive duplication cyst of the tongue
  4306. Isolated distal symphalangism
  4307. Isolated distichiasis
  4308. Isolated duodenal duplication
  4309. Isolated dystonia
  4310. Isolated ectopia lentis
  4311. Isolated encephalocele
  4312. Isolated epispadias
  4313. Isolated esophageal duplication cyst
  4314. Isolated exencephaly
  4315. Isolated familial medullary thyroid carcinoma
  4316. Isolated female hypospadias
  4317. Isolated femoral agenesis/hypoplasia
  4318. Isolated fibular hemimelia
  4319. Isolated filum lipoma
  4320. Isolated focal cortical dysplasia
  4321. Isolated focal cortical dysplasia type I
  4322. Isolated focal cortical dysplasia type Ia
  4323. Isolated focal cortical dysplasia type Ib
  4324. Isolated focal cortical dysplasia type Ic
  4325. Isolated focal cortical dysplasia type II
  4326. Isolated focal cortical dysplasia type IIa
  4327. Isolated focal cortical dysplasia type IIb
  4328. Isolated focal non-epidermolytic palmoplantar keratoderma
  4329. Isolated focal palmoplantar keratoderma
  4330. Isolated follicle stimulating hormone deficiency
  4331. Isolated foveal hypoplasia
  4332. Isolated gallbladder duplication
  4333. Isolated gastric duplication
  4334. Isolated generalized anhidrosis with normal sweat glands
  4335. Isolated geographic pattern capillary malformation
  4336. Isolated glycerol kinase deficiency
  4337. Isolated growth hormone deficiency type IA
  4338. Isolated growth hormone deficiency type IB
  4339. Isolated growth hormone deficiency type II
  4340. Isolated growth hormone deficiency type III
  4341. Isolated growth hormone deficiency type IV
  4342. Isolated hair shaft abnormality
  4343. Isolated hemihyperplasia
  4344. Isolated hereditary congenital facial paralysis
  4345. Isolated hereditary giant platelet disorder
  4346. Isolated humeral agenesis/hypoplasia
  4347. Isolated humero-radial synostosis
  4348. Isolated humero-radio-ulnar synostosis
  4349. Isolated humero-ulnar synostosis
  4350. Isolated hyperchlorhidrosis
  4351. Isolated hyperphalangy
  4352. Isolated hypoplasia of thumb
  4353. Isolated idiopathic anterior uveitis
  4354. Isolated iridoschisis
  4355. Isolated jejuno-ileal duplication
  4356. Isolated Joubert syndrome
  4357. Isolated Klippel-Feil syndrome
  4358. Isolated left bronchial isomerism
  4359. Isolated lissencephaly type 1 without known genetic defects
  4360. Isolated low resistance capillary malformation
  4361. Isolated lower lip fistula
  4362. Isolated megalencephaly
  4363. Isolated megalopapilla
  4364. Isolated melanotic schwannoma
  4365. Isolated mesenteric vein thrombosis
  4366. Isolated micronodular adrenocortical disease
  4367. Isolated microphthalmia-anophthalmia-coloboma
  4368. Isolated microspherophakia
  4369. Isolated multiple intestinal atresia
  4370. Isolated nail anomaly
  4371. Isolated nail clubbing
  4372. Isolated neonatal sclerosing cholangitis
  4373. Isolated optic nerve aplasia
  4374. Isolated optic nerve hypoplasia
  4375. Isolated optic neuritis
  4376. Isolated osteopoikilosis
  4377. Isolated oxidative phosphorylation complex disorder
  4378. Isolated partial cerebellar vermis agenesis
  4379. Isolated partial vaginal agenesis
  4380. Isolated patella aplasia/hypoplasia
  4381. Isolated permanent neonatal diabetes mellitus
  4382. Isolated persistent urogenital sinus
  4383. Isolated Pierre Robin sequence
  4384. Isolated polycystic liver disease
  4385. Isolated posterior meningocele
  4386. Isolated primary pigmented nodular adrenocortical disease
  4387. Isolated proximal femoral focal deficiency
  4388. Isolated pseudoarthrosis of the limbs
  4389. Isolated pulmonary artery sling
  4390. Isolated pulmonary capillaritis
  4391. Isolated punctate palmoplantar keratoderma
  4392. Isolated pyloric duplication
  4393. Isolated radial hemimelia
  4394. Isolated radio-ulnar synostosis
  4395. Isolated rare lymphatic malformation
  4396. Isolated rectal duplication
  4397. Isolated reticulated capillary malformation
  4398. Isolated retinal racemose hemangioma
  4399. Isolated right ventricular hypoplasia
  4400. Isolated sedoheptulokinase deficiency
  4401. Isolated segmental infantile hemangioma
  4402. Isolated small intestine duplication
  4403. Isolated splenic vein thrombosis
  4404. Isolated splenogonadal fusion
  4405. Isolated split hand-split foot malformation
  4406. Isolated spontaneous cervical artery dissection
  4407. Isolated sternocostoclavicular hyperostosis
  4408. Isolated succinate-CoQ reductase deficiency
  4409. Isolated sulfite oxidase deficiency
  4410. Isolated tetra-amelia
  4411. Isolated thyroid-stimulating hormone deficiency
  4412. Isolated thyrotropin-releasing hormone deficiency
  4413. Isolated tibial hemimelia
  4414. Isolated tibio-fibular synostosis
  4415. Isolated total cerebellar vermis agenesis
  4416. Isolated tracheoesophageal fistula
  4417. Isolated transitional filum lipoma
  4418. Isolated tubular duplication of the esophagus
  4419. Isolated ulnar hemimelia
  4420. Isolated unilateral hemispheric cerebellar hypoplasia
  4421. Isosporiasis
  4422. Isotretinoin syndrome
  4423. Isotretinoin-like syndrome
  4424. Isovaleric acidemia
  4425. ISPD-related limb-girdle muscular dystrophy R20
  4426. ITM2B amyloidosis
  4427. IVIC syndrome
  4428. Jackson-Weiss syndrome
  4429. Jacobsen syndrome
  4430. Jalili syndrome
  4431. Jansen-de Vries syndrome
  4432. Japanese encephalitis
  4433. Jawad syndrome
  4434. Jejunal neuroendocrine tumor
  4435. Jervell and Lange-Nielsen syndrome
  4436. Jessner lymphocytic infiltration of the skin
  4437. Jeune syndrome
  4438. JMP syndrome
  4439. Johanson-Blizzard syndrome
  4440. Johnson neuroectodermal syndrome
  4441. Joubert syndrome and related disorders
  4442. Joubert syndrome with hepatic defect
  4443. Joubert syndrome with ocular defect
  4444. Joubert syndrome with oculorenal defect
  4445. Joubert syndrome with renal defect
  4446. Juberg-Hayward syndrome
  4447. Juberg-Marsidi syndrome
  4448. Junctional epidermolysis bullosa
  4449. Junctional epidermolysis bullosa inversa
  4450. Junctional epidermolysis bullosa with pyloric atresia
  4451. Jung syndrome
  4452. Juvenile absence epilepsy
  4453. Juvenile amyotrophic lateral sclerosis
  4454. Juvenile arthritis
  4455. Juvenile cataract-microcornea-renal glucosuria syndrome
  4456. Juvenile CLN1 disease
  4457. Juvenile CLN10 disease
  4458. Juvenile CLN2 disease
  4459. Juvenile CLN3 disease
  4460. Juvenile CLN5 disease
  4461. Juvenile CLN6 disease
  4462. Juvenile dermatomyositis
  4463. Juvenile glaucoma
  4464. Juvenile Huntington disease
  4465. Juvenile hyaline fibromatosis
  4466. Juvenile idiopathic arthritis
  4467. Juvenile idiopathic inflammatory myopathy
  4468. Juvenile myasthenia gravis
  4469. Juvenile myelomonocytic leukemia
  4470. Juvenile myoclonic epilepsy
  4471. Juvenile nasopharyngeal angiofibroma
  4472. Juvenile nephronophthisis
  4473. Juvenile nephropathic cystinosis
  4474. Juvenile or adult CACH syndrome
  4475. Juvenile overlap myositis
  4476. Juvenile Paget disease
  4477. Juvenile polymyositis
  4478. Juvenile polyposis of infancy
  4479. Juvenile polyposis syndrome
  4480. Juvenile primary lateral sclerosis
  4481. Juvenile sialidosis type 2
  4482. Juvenile temporal arteritis
  4483. Juvenile xanthogranuloma
  4484. Juvenile-onset Steinert myotonic dystrophy
  4485. Juxtaposition of the atrial appendages
  4486. Kabuki syndrome
  4487. Kagami-Ogata syndrome
  4488. Kahrizi syndrome
  4489. Kallmann syndrome
  4490. Kallmann syndrome-heart disease syndrome
  4491. Kandori fleck retina
  4492. Kaposi sarcoma
  4493. Kaposiform hemangioendothelioma
  4494. Kaposiform lymphangiomatosis
  4495. Kapur-Toriello syndrome
  4496. Karsch-Neugebauer syndrome
  4497. Karyomegalic interstitial nephritis
  4498. Kasabach-Merritt phenomenon
  4499. Kasabach-Merritt-like phenomenon
  4500. KAT6B-related multiple congenital anomalies syndrome
  4501. Kawasaki disease
  4502. KBG syndrome
  4503. KCNQ2-related developmental and epileptic encephalopathy
  4504. KDM5C-related syndromic X-linked intellectual disability
  4505. Kearns-Sayre syndrome
  4506. Keipert syndrome
  4507. Kennedy disease
  4508. Kenny-Caffey syndrome
  4509. Keppen-Lubinsky syndrome
  4510. Keratinopathic ichthyosis
  4511. Keratitis fugax hereditaria
  4512. Keratocystic odontogenic tumor
  4513. Keratoderma hereditarium mutilans
  4514. Keratoderma hereditarium mutilans with ichthyosis
  4515. Keratolytic winter erythema
  4516. Keratosis follicularis spinulosa decalvans
  4517. Keratosis follicularis-dwarfism-cerebral atrophy syndrome
  4518. Keratosis palmaris et plantaris-clinodactyly syndrome
  4519. Keratosis pilaris atrophicans
  4520. Kerion celsi
  4521. Ketamine-induced biliary dilatation
  4522. Keutel syndrome
  4523. KID syndrome
  4524. Kidney stones
  4525. Kidney tubulopathy-dilated cardiomyopathy syndrome
  4526. Kienbock disease
  4527. Kikuchi-Fujimoto disease
  4528. Kimura disease
  4529. Kindler epidermolysis bullosa
  4530. King-Denborough syndrome
  4531. Kjellin syndrome
  4532. Kleefstra syndrome
  4533. Kleefstra syndrome due to 9q34 microdeletion
  4534. Kleefstra syndrome due to a point mutation
  4535. Kleine-Levin syndrome
  4536. KLHL7-related Bohring-Opitz-like syndrome
  4537. KLHL9-related early-onset distal myopathy
  4538. Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
  4539. Kluver-Bucy syndrome
  4540. Kniest dysplasia
  4541. Knobloch syndrome
  4542. Kommerell diverticulum
  4543. Koolen-De Vries syndrome
  4544. Koolen-De Vries syndrome due to a point mutation
  4545. Kosaki overgrowth syndrome
  4546. Kostmann syndrome
  4547. Kousseff syndrome
  4548. Kozlowski-Brown-Hardwick syndrome
  4549. Krabbe disease
  4550. KRT1-related diffuse nonepidermolytic keratoderma
  4551. Kufor-Rakeb syndrome
  4552. Kumar-Levick syndrome
  4553. Kuru
  4554. Kuskokwim syndrome
  4555. Kyasanur forest disease
  4556. Kyphomelic dysplasia
  4557. Kyphoscoliotic Ehlers-Danlos syndrome
  4558. L-2-hydroxyglutaric aciduria
  4559. L-Arginine:glycine amidinotransferase deficiency
  4560. L-ferritin deficiency
  4561. L1 syndrome
  4562. La Crosse encephalitis
  4563. Lacrimal drainage system anomaly
  4564. Lacrimal drainage system anomaly of genetic origin
  4565. Lacrimoauriculodentodigital syndrome
  4566. Lafora disease
  4567. Laing distal myopathy
  4568. LAMA5-related multisystemic syndrome
  4569. Lamb-Shaffer syndrome
  4570. LAMB2-related infantile-onset nephrotic syndrome
  4571. Lambert syndrome
  4572. Lambert-Eaton myasthenic syndrome
  4573. Lamellar ichthyosis
  4574. Laminin subunit alpha 2-related muscular dystrophy
  4575. Laminopathy
  4576. Laminopathy with lipodystrophy
  4577. Laminopathy with peripheral neuropathy
  4578. Laminopathy with premature aging
  4579. Laminopathy with striated muscle involvement
  4580. Landau-Kleffner syndrome
  4581. Langer mesomelic dysplasia
  4582. Langerhans cell histiocytosis
  4583. Langerhans cell sarcoma
  4584. Large granular lymphocyte leukemia
  4585. Large/giant congenital melanocytic nevus
  4586. Laron syndrome
  4587. Laron syndrome with immunodeficiency
  4588. Larsen syndrome
  4589. Larsen-like osseous dysplasia-short stature syndrome
  4590. Larsen-like syndrome, B3GAT3 type
  4591. Laryngeal abductor paralysis
  4592. Laryngeal neuroendocrine tumor
  4593. Laryngo-onycho-cutaneous syndrome
  4594. Laryngocele
  4595. Laryngotracheoesophageal cleft
  4596. Laryngotracheoesophageal cleft type 0
  4597. Laryngotracheoesophageal cleft type 1
  4598. Laryngotracheoesophageal cleft type 2
  4599. Laryngotracheoesophageal cleft type 3
  4600. Laryngotracheoesophageal cleft type 4
  4601. Larynx anomaly
  4602. Larynx atresia
  4603. Lassa fever
  4604. Late infantile CACH syndrome
  4605. Late infantile CLN1 disease
  4606. Late infantile CLN10 disease
  4607. Late infantile CLN2 disease
  4608. Late infantile CLN5 disease
  4609. Late infantile CLN6 disease
  4610. Late infantile CLN8 disease
  4611. Late-infantile/juvenile Krabbe disease
  4612. Late-onset ataxia with dementia
  4613. Late-onset citrullinemia type I
  4614. Late-onset distal myopathy, Markesbery-Griggs type
  4615. Late-onset familial hypoaldosteronism
  4616. Late-onset focal dermal elastosis
  4617. Late-onset idiopathic chronic pancreatitis
  4618. Late-onset isolated ACTH deficiency
  4619. Late-onset junctional epidermolysis bullosa
  4620. Late-onset nephronophthisis
  4621. Late-onset retinal degeneration
  4622. Late-onset Steinert myotonic dystrophy
  4623. Lateral facial cleft
  4624. Lateral meningocele syndrome
  4625. Lathosterolosis
  4626. Lattice corneal dystrophy type I
  4627. Laubry-Pezzi syndrome
  4628. Laurence-Moon syndrome
  4629. Laurin-Sandrow syndrome
  4630. LCAT deficiency
  4631. Lead poisoning
  4632. Leber congenital amaurosis
  4633. Leber hereditary optic neuropathy
  4634. Leber plus disease
  4635. Ledderhose disease
  4636. Left isomerism
  4637. Left ventricular noncompaction
  4638. Legg-Calve-Perthes disease
  4639. Legionella infection
  4640. Legionnaires disease
  4641. Legius syndrome
  4642. Leigh syndrome
  4643. Leigh syndrome with cardiomyopathy
  4644. Leigh syndrome with leukodystrophy
  4645. Leigh syndrome with nephrotic syndrome
  4646. Leiomyosarcoma
  4647. Leiomyosarcoma of small intestine
  4648. Leiomyosarcoma of the cervix uteri
  4649. Leiomyosarcoma of the corpus uteri
  4650. Leishmaniasis
  4651. Lelis syndrome
  4652. Lemierre syndrome
  4653. Lennox-Gastaut syndrome
  4654. Lens position anomaly
  4655. Lens position anomaly of genetic origin
  4656. Lens shape anomaly
  4657. Lens size anomaly
  4658. Lens size anomaly of genetic origin
  4659. Lenz-Majewski hyperostotic dysplasia
  4660. Leprosy
  4661. Leptospirosis
  4662. Leri pleonosteosis
  4663. Leri-Weill dyschondrosteosis
  4664. Lesch-Nyhan syndrome
  4665. Lethal acantholytic erosive disorder
  4666. Lethal arteriopathy syndrome due to fibulin-4 deficiency
  4667. Lethal ataxia with deafness and optic atrophy
  4668. Lethal brain and heart developmental defects
  4669. Lethal chondrodysplasia
  4670. Lethal congenital contracture syndrome
  4671. Lethal congenital contracture syndrome type 1
  4672. Lethal congenital contracture syndrome type 2
  4673. Lethal congenital contracture syndrome type 3
  4674. Lethal faciocardiomelic dysplasia
  4675. Lethal hemolytic anemia-genital anomalies syndrome
  4676. Lethal hydranencephaly-diaphragmatic hernia syndrome
  4677. Lethal infantile mitochondrial myopathy
  4678. Lethal Kniest-like dysplasia
  4679. Lethal Larsen-like syndrome
  4680. Lethal multiple congenital anomalies/dysmorphic syndrome
  4681. Lethal multiple pterygium syndrome
  4682. Lethal omphalocele-cleft palate syndrome
  4683. Lethal polymalformative syndrome, Boissel type
  4684. Lethal recessive chondrodysplasia
  4685. Lethal short-limb dwarfism, McAlister-Crane type
  4686. Letrozole toxicity
  4687. Leukocyte adhesion deficiency
  4688. Leukocyte adhesion deficiency type I
  4689. Leukocyte adhesion deficiency type II
  4690. Leukocyte adhesion deficiency type III
  4691. Leukodystrophy
  4692. Leukoencephalopathy with calcifications and cysts
  4693. Leukoencephalopathy-dystonia-motor neuropathy syndrome
  4694. Leukoencephalopathy-palmoplantar keratoderma syndrome
  4695. Leukonychia totalis
  4696. Levocardia
  4697. Lewis-Pashayan syndrome
  4698. Lewis-Sumner syndrome
  4699. Leydig cell hypoplasia
  4700. Leydig cell hypoplasia due to complete LH resistance
  4701. Leydig cell hypoplasia due to LHB deficiency
  4702. Leydig cell hypoplasia due to partial LH resistance
  4703. Lhermitte-Duclos disease
  4704. Li-Fraumeni syndrome
  4705. Lichen amyloidosis
  4706. Lichen myxedematosus
  4707. Lichen planopilaris
  4708. Lichen planus pemphigoides
  4709. Lichen planus pigmentosus
  4710. Lichen sclerosus
  4711. Lichtenstein syndrome
  4712. Liddle syndrome
  4713. LIG4 syndrome
  4714. Light and heavy chain deposition disease
  4715. Light chain deposition disease
  4716. Ligneous conjunctivitis
  4717. Limb body wall complex
  4718. Limb-girdle muscular dystrophy
  4719. Limb-girdle muscular dystrophy due to POMK deficiency
  4720. Limb-mammary syndrome
  4721. Limbal stem cell deficiency
  4722. Limited cutaneous systemic sclerosis
  4723. Limited dorsal myeloschisis
  4724. Limited systemic sclerosis
  4725. Linear and whorled nevoid hypermelanosis
  4726. Linear atrophoderma of Moulin
  4727. Linear focal elastosis
  4728. Linear IgA dermatosis
  4729. Linear lichen planus
  4730. Linear nevus sebaceus syndrome
  4731. Linear verrucous nevus syndrome
  4732. LIPE-related familial partial lipodystrophy
  4733. Lipedema
  4734. Lipid storage disease
  4735. Lipoblastoma
  4736. Lipodystrophy due to peptidic growth factors deficiency
  4737. Lipodystrophy-intellectual disability-deafness syndrome
  4738. Lipoic acid biosynthesis defect
  4739. Lipoic acid synthetase deficiency
  4740. Lipoid proteinosis
  4741. Lipomatous non-saccular limited dorsal myeloschisis
  4742. Lipomyelomeningocele
  4743. Lipoprotein glomerulopathy
  4744. Liposarcoma
  4745. Lipoyl transferase 1 deficiency
  4746. Lipoyl transferase 2 deficiency
  4747. Lisch epithelial corneal dystrophy
  4748. Lissencephaly
  4749. Lissencephaly due to LIS1 mutation
  4750. Lissencephaly due to TUBA1A mutation
  4751. Lissencephaly syndrome, Norman-Roberts type
  4752. Lissencephaly type 1 due to doublecortin gene mutation
  4753. Lissencephaly type 3
  4754. Lissencephaly type 3-metacarpal bone dysplasia syndrome
  4755. Lissencephaly with cerebellar hypoplasia
  4756. Lissencephaly with cerebellar hypoplasia type A
  4757. Lissencephaly with cerebellar hypoplasia type B
  4758. Lissencephaly with cerebellar hypoplasia type C
  4759. Lissencephaly with cerebellar hypoplasia type D
  4760. Lissencephaly with cerebellar hypoplasia type E
  4761. Lissencephaly with cerebellar hypoplasia type F
  4762. Listeriosis
  4763. Littoral cell hemangioma of the spleen
  4764. Livedoid vasculopathy
  4765. Liver adenomatosis
  4766. LMNA-related cardiocutaneous progeria syndrome
  4767. Lobar holoprosencephaly
  4768. Localized dystrophic epidermolysis bullosa
  4769. Localized dystrophic epidermolysis bullosa, acral form
  4770. Localized dystrophic epidermolysis bullosa, nails only
  4771. Localized dystrophic epidermolysis bullosa, pretibial form
  4772. Localized epidermolysis bullosa simplex
  4773. Localized intravascular coagulation
  4774. Localized junctional epidermolysis bullosa
  4775. Localized lichen myxedematosus
  4776. Localized lipodystrophy
  4777. Localized pagetoid reticulosis
  4778. Localized pleural mesothelioma
  4779. Localized scleroderma
  4780. Locked-in syndrome
  4781. Loeffler endocarditis
  4782. Loeys-Dietz syndrome
  4783. Logopenic progressive aphasia
  4784. Loiasis
  4785. Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  4786. Long chain acyl-CoA dehydrogenase deficiency
  4787. Long COVID
  4788. Longitudinal vaginal septum
  4789. Loose anagen syndrome
  4790. Low oxygen affinity alpha chain hemoglobin disease
  4791. Low oxygen affinity beta chain hemoglobin disease
  4792. Low oxygen affinity gamma chain hemoglobin disease
  4793. Low oxygen affinity hemoglobin disease
  4794. Low phospholipid-associated cholelithiasis
  4795. Low resistance capillary malformation
  4796. Low-flow priapism
  4797. Low-grade astrocytoma
  4798. Low-grade neuroendocrine tumor of the corpus uteri
  4799. Lowe-Kohn-Cohen syndrome
  4800. Lower limb hypertrophy
  4801. Lower limb malformation-hypospadias syndrome
  4802. Lower motor neuron syndrome with late-adult onset
  4803. Lowry-MacLean syndrome
  4804. Lowry-Wood syndrome
  4805. LRP5-related primary osteoporosis
  4806. Lujan-Fryns syndrome
  4807. Lujo hemorrhagic fever
  4808. LUMBAR syndrome
  4809. Lung agenesis-heart defect-thumb anomalies syndrome
  4810. Lung cancer
  4811. Lupus
  4812. Lupus erythematosus panniculitis
  4813. Lupus erythematosus tumidus
  4814. Luscan-Lumish syndrome
  4815. Lyme disease
  4816. Lymphangioleiomyomatosis
  4817. Lymphatic filariasis
  4818. Lymphatic-venous malformation
  4819. Lymphedema with yellow nails
  4820. Lymphedema-atrial septal defects-facial changes syndrome
  4821. Lymphedema-distichiasis syndrome
  4822. Lymphedema-posterior choanal atresia syndrome
  4823. Lymphedema-ptosis syndrome
  4824. Lymphocytic hypereosinophilic syndrome
  4825. Lymphocytic mastitis
  4826. Lymphoepithelial cyst of the pancreas
  4827. Lymphoepithelial-like carcinoma
  4828. Lymphoid hemopathy
  4829. Lymphoid interstitial pneumonia
  4830. Lymphoma
  4831. Lymphomatoid granulomatosis
  4832. Lymphomatoid papulosis
  4833. Lymphoplasmacytic inflammatory pseudotumor of the liver
  4834. Lymphoplasmacytic lymphoma without IgM production
  4835. Lynch syndrome
  4836. Lysinuric protein intolerance
  4837. Lysosomal acid lipase deficiency
  4838. Lysosomal acid phosphatase deficiency
  4839. Lysosomal disease
  4840. Lysosomal disease with epilepsy
  4841. Lysosomal disease with hypertrophic cardiomyopathy
  4842. Lysosomal disease with restrictive cardiomyopathy
  4843. Lysosomal glycogen storage disease
  4844. Lysosomal storage disease with skeletal involvement
  4845. Machado-Joseph disease type 1
  4846. Machado-Joseph disease type 2
  4847. Machado-Joseph disease type 3
  4848. Macrocephaly-developmental delay syndrome
  4849. Macrocephaly-intellectual disability-autism syndrome
  4850. Macrocephaly-short stature-paraplegia syndrome
  4851. Macrocephaly-spastic paraplegia-dysmorphism syndrome
  4852. Macrocystic lymphatic malformation
  4853. Macrodactyly of fingers
  4854. Macrodactyly of fingers, bilateral
  4855. Macrodactyly of fingers, unilateral
  4856. Macrodactyly of toes
  4857. Macrodactyly of toes, bilateral
  4858. Macrodactyly of toes, unilateral
  4859. Macroglossia
  4860. Macrophage activation syndrome
  4861. Macrophage or histiocytic tumor
  4862. Macrophagic myofasciitis
  4863. Macrosomia-microphthalmia-cleft palate syndrome
  4864. Macrothrombocytopenia with mitral valve insufficiency
  4865. Macular amyloidosis
  4866. Macular coloboma-cleft palate-hallux valgus syndrome
  4867. Macular corneal dystrophy
  4868. Macular degeneration
  4869. Maculopapular cutaneous mastocytosis
  4870. Madras motor neuron disease
  4871. Maffucci syndrome
  4872. MAGIC syndrome
  4873. Majeed syndrome
  4874. Mal de debarquement
  4875. Mal de Meleda
  4876. Malakoplakia
  4877. Malan overgrowth syndrome
  4878. Malaria
  4879. Male infertility due to acephalic spermatozoa
  4880. Male infertility due to globozoospermia
  4881. Male infertility due to gonadal dysgenesis
  4882. Male infertility due to NANOS1 mutation
  4883. Male infertility due to obstructive azoospermia
  4884. Male infertility due to sperm disorder
  4885. Male infertility due to sperm motility disorder
  4886. Male infertility with spermatogenesis disorder
  4887. Malformation of the anal canal and the rectum
  4888. Malformation of the cerebellar hemispheres
  4889. Malformation of the cerebellar vermis
  4890. Malformation syndrome with hamartosis
  4891. Malformation syndrome with short stature
  4892. Malformative syndrome with dentinogenesis imperfecta
  4893. Malignancy diagnosed during pregnancy
  4894. Malignant atrophic papulosis
  4895. Malignant epithelial tumor of ovary
  4896. Malignant epithelial tumor of salivary glands
  4897. Malignant germ cell tumor of ovary
  4898. Malignant germ cell tumor of the cervix uteri
  4899. Malignant germ cell tumor of the corpus uteri
  4900. Malignant germ cell tumor of the vagina
  4901. Malignant granulosa cell tumor of the ovary
  4902. Malignant hyperthermia of anesthesia
  4903. Malignant lymphoma with peripheral neuropathy
  4904. Malignant melanoma of the mucosa
  4905. Malignant mixed Mullerian tumor of the ovary
  4906. Malignant non-dysgerminomatous germ cell tumor of ovary
  4907. Malignant non-epithelial tumor of ovary
  4908. Malignant peripheral nerve sheath tumor
  4909. Malignant peritoneal mesothelioma
  4910. Malignant Sertoli-Leydig cell tumor of the ovary
  4911. Malignant sex cord stromal tumor of ovary
  4912. Malignant teratoma of ovary
  4913. Malignant triton tumor
  4914. Malignant tumor of fallopian tubes
  4915. Malignant tumor of penis
  4916. Malignant vascular tumor
  4917. Malonic aciduria
  4918. Malposition of a coronary ostium
  4919. Malpuech syndrome
  4920. MALT lymphoma
  4921. Mammary-digital-nail syndrome
  4922. MAN1B1-CDG
  4923. MAN2B2-CDG
  4924. Mandibuloacral dysplasia
  4925. Mandibuloacral dysplasia associated to MTX2
  4926. Mandibuloacral dysplasia with type A lipodystrophy
  4927. Mandibuloacral dysplasia with type B lipodystrophy
  4928. Mandibulofacial dysostosis
  4929. Mandibulofacial dysostosis with alopecia
  4930. Mandibulofacial dysostosis-microcephaly syndrome
  4931. Manganese poisoning
  4932. Mansonelliasis
  4933. Mantle cell lymphoma
  4934. Maple syrup urine disease
  4935. Marbach-Schaaf neurodevelopmental syndrome
  4936. Marburg acute multiple sclerosis
  4937. Marburg hemorrhagic fever
  4938. Marchiafava-Bignami disease
  4939. Marcus-Gunn syndrome
  4940. Marden-Walker syndrome
  4941. Marfan syndrome
  4942. Marfan syndrome and Marfan-related disorders
  4943. Marfan syndrome type 1
  4944. Marfan syndrome type 2
  4945. Marfanoid syndrome, De Silva type
  4946. Margarita island ectodermal dysplasia
  4947. Marginal papular palmoplantar keratoderma
  4948. Marginal zone lymphoma
  4949. Marie Unna hereditary hypotrichosis
  4950. Marin-Amat syndrome
  4951. Marinesco-Sjogren syndrome
  4952. Marshall syndrome
  4953. Marshall-Smith syndrome
  4954. Martinez-Frias syndrome
  4955. Martinique crinkled retinal pigment epitheliopathy
  4956. MASA syndrome
  4957. MASS syndrome
  4958. Mast cell leukemia
  4959. Mast cell sarcoma
  4960. Mastocytosis
  4961. Maternal disease-related embryofetopathy
  4962. Maternal hyperthermia-induced birth defects
  4963. Maternal phenylketonuria syndrome
  4964. Maternal riboflavin deficiency
  4965. Maternal uniparental disomy of chromosome 1 syndrome
  4966. Maternal uniparental disomy of chromosome 13 syndrome
  4967. Maternal uniparental disomy of chromosome 16 syndrome
  4968. Maternal uniparental disomy of chromosome 2 syndrome
  4969. Maternal uniparental disomy of chromosome 20 syndrome
  4970. Maternal uniparental disomy of chromosome 21 syndrome
  4971. Maternal uniparental disomy of chromosome 22 syndrome
  4972. Maternal uniparental disomy of chromosome 4 syndrome
  4973. Maternal uniparental disomy of chromosome 6 syndrome
  4974. Maternal uniparental disomy of chromosome 9 syndrome
  4975. Maternal uniparental disomy of chromosome X syndrome
  4976. Maternal uniparental disomy syndrome
  4977. Matthew-Wood syndrome
  4978. Maxillonasal dysplasia
  4979. May-Hegglin thrombocytopenia
  4980. May-Thurner syndrome
  4981. Mayer-Rokitansky-Kuster-Hauser syndrome
  4982. Mayer-Rokitansky-Kuster-Hauser syndrome type 1
  4983. Mayer-Rokitansky-Kuster-Hauser syndrome type 2
  4984. Mazabraud syndrome
  4985. MBD4-related tumor predisposition syndrome
  4986. MCAS
  4987. McCune-Albright syndrome
  4988. McDonough syndrome
  4989. McKusick-Kaufman syndrome
  4990. McLeod neuroacanthocytosis syndrome
  4991. ME/CFS
  4992. Meacham syndrome
  4993. Meckel syndrome
  4994. Meconium aspiration syndrome
  4995. MECP2-related severe neonatal encephalopathy
  4996. Medial condensing osteitis of the clavicle
  4997. Median arcuate ligament syndrome
  4998. Median cleft lip/mandible
  4999. Median cleft of the upper lip and maxilla
  5000. Median facial cleft
  5001. Median nodule of the upper lip
  5002. Mediastinal arteriovenous malformation
  5003. Medich giant platelet syndrome
  5004. Mediterranean macrothrombocytopenia
  5005. Medium chain acyl-CoA dehydrogenase deficiency
  5006. MEDNIK syndrome
  5007. Medullar disease
  5008. Medullary sponge kidney
  5009. Medullary thyroid carcinoma
  5010. Medulloblastoma
  5011. Medulloblastoma with extensive nodularity
  5012. Medulloepithelioma of the central nervous system
  5013. Meesmann corneal dystrophy
  5014. Mega-cisterna magna
  5015. Megaconial congenital muscular dystrophy
  5016. Megacystis-megaureter syndrome
  5017. Megacystis-microcolon-intestinal hypoperistalsis syndrome
  5018. Megalencephalic leukoencephalopathy with subcortical cysts
  5019. Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
  5020. Megalocornea-intellectual disability syndrome
  5021. MEGDEL syndrome
  5022. MEHMO syndrome
  5023. Meige disease
  5024. Meigs syndrome
  5025. Melanocytoma of the optic disc and optic nerve
  5026. Melanoma and neural system tumor syndrome
  5027. Melanoma of soft tissue
  5028. MELAS
  5029. Melhem-Fahl syndrome
  5030. Melioidosis
  5031. Melkersson-Rosenthal syndrome
  5032. Melnick-Needles syndrome
  5033. Melorheostosis
  5034. Melorheostosis with osteopoikilosis
  5035. MEND syndrome
  5036. Mendelian susceptibility to mycobacterial diseases
  5037. Menetrier disease
  5038. Ménière’s disease
  5039. Meningeal melanocytoma
  5040. Meningioma
  5041. Meningocele
  5042. Meningococcal meningitis
  5043. Menke-Hennekam syndrome
  5044. Menkes disease
  5045. Menstrual cycle-dependent periodic fever
  5046. MEPAN syndrome
  5047. Mercury poisoning
  5048. MERRF
  5049. Mesenchymal tumor of small intestine
  5050. Mesial temporal lobe epilepsy with hippocampal sclerosis
  5051. Mesoaxial synostotic syndactyly with phalangeal reduction
  5052. Mesocardia
  5053. Mesomelia-synostoses syndrome
  5054. Mesomelic and rhizo-mesomelic dysplasia
  5055. Mesomelic dwarfism, Reinhardt-Pfeiffer type
  5056. Mesomelic dwarfism-cleft palate-camptodactyly syndrome
  5057. Mesomelic dysplasia, Kantaputra type
  5058. Mesomelic dysplasia, Nievergelt type
  5059. Mesomelic dysplasia, Savarirayan type
  5060. Mesothelioma of the tunica vaginalis
  5061. Metabolic disease with cataract
  5062. Metabolic disease with dementia
  5063. Metabolic disease with intestinal involvement
  5064. Metabolic disease with skin involvement
  5065. Metabolic diseases with epilepsy
  5066. Metabolic myopathy
  5067. Metabolic myopathy due to lactate transporter defect
  5068. Metabolic neurotransmission anomaly with epilepsy
  5069. Metachondromatosis
  5070. Metachromatic leukodystrophy
  5071. Metachromatic leukodystrophy, adult form
  5072. Metachromatic leukodystrophy, juvenile form
  5073. Metachromatic leukodystrophy, late infantile form
  5074. Metal transport or utilization disorder with epilepsy
  5075. Metameric fast-flow vascular malformation
  5076. Metaphyseal acroscyphodysplasia
  5077. Metaphyseal anadysplasia
  5078. Metaphyseal chondrodysplasia, Jansen type
  5079. Metaphyseal chondrodysplasia, Kaitila type
  5080. Metaphyseal chondrodysplasia, Rosenberg type
  5081. Metaphyseal chondrodysplasia, Schmid type
  5082. Metaphyseal chondrodysplasia, Spahr type
  5083. Metaphyseal dysplasia without hypotrichosis
  5084. Metaphyseal dysplasia, Braun-Tinschert type
  5085. Metaplastic carcinoma of the breast
  5086. Metatropic dysplasia
  5087. Methanol poisoning
  5088. Methemoglobinemia-related cyanosis
  5089. Methimazole embryofetopathy
  5090. Methionine adenosyltransferase I/III deficiency
  5091. Methotrexate toxicity
  5092. Methotrexate-associated lymphoproliferative disorders
  5093. Methylcobalamin deficiency type cblDv1
  5094. Methylcobalamin deficiency type cblE
  5095. Methylcobalamin deficiency type cblG
  5096. Methylmalonic acidemia with homocystinuria
  5097. Methylmalonic acidemia with homocystinuria type cblF
  5098. Methylmalonic acidemia with homocystinuria, type cblC
  5099. Methylmalonic acidemia with homocystinuria, type cblD
  5100. Methylmalonic acidemia with homocystinuria, type cblJ
  5101. Methylmalonic acidemia with homocystinuria, type cblX
  5102. Methylmalonic acidemia without homocystinuria
  5103. Mevalonate kinase deficiency
  5104. Mevalonic aciduria
  5105. MGAT2-CDG
  5106. MGP-related spondyloepiphyseal dysplasia
  5107. Michels syndrome
  5108. Micro syndrome
  5109. Microblepharon-ablephara syndrome
  5110. Microbrachycephaly-ptosis-cleft lip syndrome
  5111. Microcephalic osteodysplastic dysplasia, Saul-Wilson type
  5112. Microcephalic osteodysplastic primordial dwarfism type II
  5113. Microcephalic primordial dwarfism
  5114. Microcephalic primordial dwarfism, Dauber type
  5115. Microcephalic primordial dwarfism, Montreal type
  5116. Microcephalic primordial dwarfism, Toriello type
  5117. Microcephaly-albinism-digital anomalies syndrome
  5118. Microcephaly-brachydactyly-kyphoscoliosis syndrome
  5119. Microcephaly-brain defect-spasticity-hypernatremia syndrome
  5120. Microcephaly-capillary malformation syndrome
  5121. Microcephaly-cardiac defect-lung malsegmentation syndrome
  5122. Microcephaly-cardiomyopathy syndrome
  5123. Microcephaly-cervical spine fusion anomalies syndrome
  5124. Microcephaly-cutis verticis gyrata-lymphedema syndrome
  5125. Microcephaly-deafness-intellectual disability syndrome
  5126. Microcephaly-glomerulonephritis-marfanoid habitus syndrome
  5127. Microcephaly-lymphedema-chorioretinopathy syndrome
  5128. Microcephaly-microcornea syndrome, Seemanova type
  5129. Microcephaly-micromelia syndrome
  5130. Microcephaly-short stature-limb abnormalities syndrome
  5131. Microcornea-glaucoma-absent frontal sinuses syndrome
  5132. Microcystic lymphatic malformation
  5133. Microcystic stromal tumor
  5134. Microcytic anemia with liver iron overload
  5135. Microduplication Xp11.22p11.23 syndrome
  5136. Microform holoprosencephaly
  5137. Microgastria-limb reduction defect syndrome
  5138. Microlissencephaly
  5139. Microlissencephaly-micromelia syndrome
  5140. Microphthalmia with brain and digit anomalies
  5141. Microphthalmia with limb anomalies
  5142. Microphthalmia with linear skin defects syndrome
  5143. Microphthalmia, Lenz type
  5144. Microphthalmia-anophthalmia-coloboma
  5145. Microphthalmia-brain atrophy syndrome
  5146. Microphthalmia-microtia-fetal akinesia syndrome
  5147. Microscopic colitis
  5148. Microscopic polyangiitis
  5149. Microspherophakia-metaphyseal dysplasia syndrome
  5150. Microsporidiosis
  5151. Microtia
  5152. Microtriplication 11q24.1 syndrome
  5153. Microvenular haemangioma
  5154. Microvillus inclusion disease
  5155. Micturition-induced epilepsy
  5156. Mid-dermal elastolysis
  5157. Middle and/or inner ear anomaly
  5158. Middle aortic syndrome
  5159. Middle ear neuroendocrine tumor
  5160. Middle East respiratory syndrome
  5161. Midline cerebral malformation
  5162. Midline cervical cleft
  5163. Midline interhemispheric variant of holoprosencephaly
  5164. Mietens syndrome
  5165. Migraine
  5166. Mikati-Najjar-Sahli syndrome
  5167. Mild Canavan disease
  5168. Mild hemophilia A
  5169. Mild hemophilia B
  5170. Mild hyperphenylalaninemia
  5171. Mild phenylketonuria
  5172. Mild phosphoribosylpyrophosphate synthetase superactivity
  5173. Miller Fisher syndrome
  5174. Miller-Dieker syndrome
  5175. Mills syndrome
  5176. Milroy disease
  5177. Minimal pigment oculocutaneous albinism type 1
  5178. MIR140-related spondyloepiphyseal dysplasia
  5179. MIRAGE syndrome
  5180. Mirhosseini-Holmes-Walton syndrome
  5181. Mirizzi syndrome
  5182. Mirror-image polydactyly
  5183. MiT family translocation renal cell carcinoma
  5184. Mitchell Syndrome
  5185. Mitochondrial disease
  5186. Mitochondrial disease with dilated cardiomyopathy
  5187. Mitochondrial disease with epilepsy
  5188. Mitochondrial disease with hypertrophic cardiomyopathy
  5189. Mitochondrial disease with peripheral neuropathy
  5190. Mitochondrial DNA depletion syndrome
  5191. Mitochondrial DNA depletion syndrome, hepatocerebral form
  5192. Mitochondrial DNA depletion syndrome, myopathic form
  5193. Mitochondrial DNA maintenance syndrome
  5194. Mitochondrial DNA-associated Leigh syndrome
  5195. Mitochondrial DNA-related cardiomyopathy and hearing loss
  5196. Mitochondrial DNA-related dystonia
  5197. Mitochondrial DNA-related mitochondrial myopathy
  5198. Mitochondrial membrane transport disorder
  5199. Mitochondrial myopathy
  5200. Mitochondrial myopathy and sideroblastic anemia
  5201. Mitochondrial myopathy-lactic acidosis-deafness syndrome
  5202. Mitochondrial neurogastrointestinal encephalomyopathy
  5203. Mitochondrial oxidative phosphorylation disorder
  5204. Mitochondrial protein import disorder
  5205. Mitochondrial pyruvate carrier deficiency
  5206. Mitochondrial substrate carrier disorder
  5207. Mitochondrial trifunctional protein deficiency
  5208. Mitral atresia
  5209. Mitral valve agenesis
  5210. Mixed autoinflammatory and autoimmune syndrome
  5211. Mixed connective tissue disease
  5212. Mixed cryoglobulinemia type II
  5213. Mixed cryoglobulinemia type III
  5214. Mixed cystic lymphatic malformation
  5215. Mixed dermis disorder
  5216. Mixed functioning pituitary adenoma
  5217. Mixed germ cell tumor
  5218. Mixed germ cell tumor of central nervous system
  5219. Mixed neuronal-glial tumor
  5220. Mixed phenotype acute leukemia
  5221. Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
  5222. Mixed phenotype acute leukemia with t(v;11q23.3)
  5223. Mixed-type autoimmune hemolytic anemia
  5224. Miyoshi myopathy
  5225. MMEP syndrome
  5226. Moderate and severe traumatic brain injury
  5227. Moderate hemophilia A
  5228. Moderate hemophilia B
  5229. Moderate multiminicore disease with hand involvement
  5230. Moderately-differentiated thymic neuroendocrine carcinoma
  5231. MODY
  5232. Moebius syndrome
  5233. MOGS-CDG
  5234. Mohr-Tranebjaerg syndrome
  5235. MOMO syndrome
  5236. Monilethrix
  5237. Monoamine oxidase A deficiency
  5238. Monoclonal mast cell activation syndrome
  5239. Monogenic disease with epilepsy
  5240. Monomelic amyotrophy
  5241. Monomorphic epitheliotropic intestinal T-cell lymphoma
  5242. Mononen-Karnes-Senac syndrome
  5243. Monosomy 13q14 syndrome
  5244. Monosomy 13q34 syndrome
  5245. Monosomy 18p syndrome
  5246. Monosomy 18q syndrome
  5247. Monosomy 22 syndrome
  5248. Monosomy 5p syndrome
  5249. Monosomy 9p syndrome
  5250. Monosomy 9q22.3 syndrome
  5251. Monosomy X syndrome
  5252. Monostotic fibrous dysplasia
  5253. Moore-Federman syndrome
  5254. Mooren ulcer
  5255. Morgagni-Stewart-Morel syndrome
  5256. MORM syndrome
  5257. Morning glory disc anomaly
  5258. Morvan syndrome
  5259. Mosaic genome-wide paternal uniparental disomy syndrome
  5260. Mosaic Legius syndrome
  5261. Mosaic monosomy X syndrome
  5262. Mosaic neurofibromatosis type 1
  5263. Mosaic NF2-related schwannomatosis
  5264. Mosaic schwannomatosis
  5265. Mosaic trisomy 1 syndrome
  5266. Mosaic trisomy 10 syndrome
  5267. Mosaic trisomy 12 syndrome
  5268. Mosaic trisomy 14 syndrome
  5269. Mosaic trisomy 15 syndrome
  5270. Mosaic trisomy 16 syndrome
  5271. Mosaic trisomy 17 syndrome
  5272. Mosaic trisomy 2 syndrome
  5273. Mosaic trisomy 20 syndrome
  5274. Mosaic trisomy 22 syndrome
  5275. Mosaic trisomy 3 syndrome
  5276. Mosaic trisomy 4 syndrome
  5277. Mosaic trisomy 5 syndrome
  5278. Mosaic trisomy 7 syndrome
  5279. Mosaic trisomy 8 syndrome
  5280. Mosaic trisomy 9 syndrome
  5281. Mosaic variegated aneuploidy syndrome
  5282. Motor neuron disease
  5283. Motor stereotypies
  5284. Mould illness (CIRS)
  5285. Mounier-Kuhn syndrome
  5286. Mowat-Wilson syndrome
  5287. Mowat-Wilson syndrome due to a ZEB2 point mutation
  5288. Mowat-Wilson syndrome due to monosomy 2q22
  5289. Moyamoya angiopathy
  5290. Moyamoya disease
  5291. Moyamoya disease with early-onset achalasia
  5292. Moynahan syndrome
  5293. MPDU1-CDG
  5294. MPI-CDG
  5295. MRCS syndrome
  5296. MSH3-related polyposis
  5297. MT-ATP6-related mitochondrial spastic paraplegia
  5298. Mu-heavy chain disease
  5299. Mucinous adenocarcinoma of ovary
  5300. Mucinous adenocarcinoma of the appendix
  5301. Mucinous cystadenocarcinoma of the pancreas
  5302. Mucinous cystadenoma of childhood
  5303. Mucinous tubular and spindle cell renal carcinoma
  5304. Muckle-Wells syndrome
  5305. Mucocutaneous venous malformations
  5306. Mucolipidosis
  5307. Mucolipidosis type II
  5308. Mucolipidosis type III
  5309. Mucolipidosis type III alpha/beta
  5310. Mucolipidosis type III gamma
  5311. Mucolipidosis type IV
  5312. Mucopolysaccharidosis
  5313. Mucopolysaccharidosis type 1
  5314. Mucopolysaccharidosis type 10
  5315. Mucopolysaccharidosis type 2
  5316. Mucopolysaccharidosis type 2, attenuated form
  5317. Mucopolysaccharidosis type 2, severe form
  5318. Mucopolysaccharidosis type 3
  5319. Mucopolysaccharidosis type 4
  5320. Mucopolysaccharidosis type 4A
  5321. Mucopolysaccharidosis type 4B
  5322. Mucopolysaccharidosis type 6
  5323. Mucopolysaccharidosis type 6, rapidly progressing
  5324. Mucopolysaccharidosis type 6, slowly progressing
  5325. Mucopolysaccharidosis type 7
  5326. Mucopolysaccharidosis with skin involvement
  5327. Mucous membrane pemphigoid
  5328. Mueller-Weiss syndrome
  5329. Muenke syndrome
  5330. Muir-Torre syndrome
  5331. Mulibrey nanism
  5332. Mullerian aplasia
  5333. Mullerian aplasia and hyperandrogenism
  5334. Mullerian derivatives-lymphangiectasia-polydactyly syndrome
  5335. Mullerian duct anomalies-limb anomalies syndrome
  5336. Multicentric osteolysis-nodulosis-arthropathy spectrum
  5337. Multicentric reticulohistiocytosis
  5338. Multicystic dysplastic kidney
  5339. Multifocal atrial tachycardia
  5340. Multifocal motor neuropathy
  5341. Multifocal peripheral venous malformation
  5342. Multifocal sporadic venous malformation
  5343. Multifocal tuberculosis
  5344. Multiloculated renal cyst
  5345. Multiminicore myopathy
  5346. Multinodular goiter-cystic kidney-polydactyly syndrome
  5347. Multiple acyl-CoA dehydrogenase deficiency
  5348. Multiple acyl-CoA dehydrogenase deficiency, mild type
  5349. Multiple benign circumferential skin creases on limbs
  5350. Multiple carboxylase deficiency
  5351. Multiple chemical sensitivity
  5352. Multiple congenital anomalies-hypotonia-seizures syndrome
  5353. Multiple congenital anomalies/dysmorphic syndrome
  5354. Multiple endocrine neoplasia
  5355. Multiple endocrine neoplasia type 1
  5356. Multiple endocrine neoplasia type 2
  5357. Multiple endocrine neoplasia type 2A
  5358. Multiple endocrine neoplasia type 2B
  5359. Multiple endocrine neoplasia type 4
  5360. Multiple epiphyseal dysplasia
  5361. Multiple epiphyseal dysplasia and pseudoachondroplasia
  5362. Multiple epiphyseal dysplasia due to collagen 9 anomaly
  5363. Multiple epiphyseal dysplasia type 1
  5364. Multiple epiphyseal dysplasia type 4
  5365. Multiple epiphyseal dysplasia type 5
  5366. Multiple epiphyseal dysplasia type 7
  5367. Multiple epiphyseal dysplasia, Beighton type
  5368. Multiple epiphyseal dysplasia, Lowry type
  5369. Multiple epiphyseal dysplasia-miniepiphyses syndrome
  5370. Multiple evanescent white dot syndrome
  5371. Multiple metaphyseal dysplasia
  5372. Multiple mitochondrial DNA deletion syndrome
  5373. Multiple mitochondrial dysfunctions syndrome
  5374. Multiple mitochondrial dysfunctions syndrome type 1
  5375. Multiple mitochondrial dysfunctions syndrome type 2
  5376. Multiple mitochondrial dysfunctions syndrome type 3
  5377. Multiple mitochondrial dysfunctions syndrome type 4
  5378. Multiple mitochondrial dysfunctions syndrome type 5
  5379. Multiple mitochondrial dysfunctions syndrome type 6
  5380. Multiple myeloma
  5381. Multiple non-ossifying fibromatosis
  5382. Multiple osteochondromas
  5383. Multiple paragangliomas associated with polycythemia
  5384. Multiple polyglandular tumor
  5385. Multiple pterygium syndrome
  5386. Multiple pterygium syndrome, Aslan type
  5387. Multiple pterygium-malignant hyperthermia syndrome
  5388. Multiple sclerosis
  5389. Multiple sclerosis variant
  5390. Multiple self-healing squamous epithelioma
  5391. Multiple sulfatase deficiency
  5392. Multiple symmetric lipomatosis
  5393. Multiple synostoses syndrome
  5394. Multiple system atrophy
  5395. Multiple system atrophy, cerebellar type
  5396. Multiple system atrophy, parkinsonian type
  5397. Multisystem inflammatory syndrome in children and adults
  5398. Multisystem Langerhans cell histiocytosis
  5399. Multisystemic smooth muscle dysfunction syndrome
  5400. Murine typhus
  5401. Muscle filaminopathy
  5402. Muscle-eye-brain disease
  5403. Muscular channelopathy
  5404. Muscular dystrophy
  5405. Muscular dystrophy-white matter spongiosis syndrome
  5406. Muscular glycogenosis
  5407. Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
  5408. Muscular lipidosis
  5409. Muscular pseudohypertrophy-hypothyroidism syndrome
  5410. Muscular tumor
  5411. Musculocontractural Ehlers-Danlos syndrome
  5412. Musculoskeletal disease with cataract
  5413. MUTYH-related polyposis
  5414. Myalgia-eosinophilia syndrome associated with tryptophan
  5415. Myasthenia gravis
  5416. Mycetoma
  5417. Mycophenolate mofetil embryopathy
  5418. Mycoplasma encephalitis
  5419. Mycosis fungoides and variants
  5420. Myelic limited dorsal malformation
  5421. Myelocystocele
  5422. Myelodysplastic neoplasm with increased blasts
  5423. Myelodysplastic neoplasm with increased blasts type 1
  5424. Myelodysplastic neoplasm with increased blasts type 2
  5425. Myelodysplastic neoplasm with low blasts
  5426. Myelodysplastic syndrome
  5427. Myelodysplastic/myeloproliferative disease
  5428. Myeloid hemopathy
  5429. Myeloid sarcoma
  5430. Myeloperoxidase deficiency
  5431. Myeloproliferative neoplasm
  5432. Myeloschisis
  5433. MYH9-related syndromic thrombocytopenia
  5434. Myhre syndrome
  5435. Myiasis
  5436. Myoclonic dystonia 15
  5437. Myoclonic epilepsy in non-progressive encephalopathies
  5438. Myoclonic epilepsy of infancy
  5439. Myoclonus-cerebellar ataxia-deafness syndrome
  5440. Myoclonus-dystonia syndrome
  5441. Myofascial pain syndrome
  5442. Myofibrillar myopathy
  5443. Myopathic Ehlers-Danlos syndrome
  5444. Myopathic intestinal pseudoobstruction
  5445. Myopathy and diabetes mellitus
  5446. Myopathy with hexagonally cross-linked tubular arrays
  5447. Myopericytoma
  5448. Myosclerosis
  5449. Myosin storage myopathy
  5450. Myositis
  5451. Myospherulosis
  5452. Myotilinopathy
  5453. Myotonia fluctuans
  5454. Myotonia permanens
  5455. Myotonic dystrophy
  5456. Myotonic dystrophy type 3
  5457. Myotonic syndrome
  5458. Myxofibrosarcoma
  5459. Myxoid/round cell liposarcoma
  5460. Myxopapillary ependymoma
  5461. N syndrome
  5462. NAD(P)HX dehydratase deficiency
  5463. NAD(P)HX epimerase deficiency
  5464. Naegeli-Franceschetti-Jadassohn syndrome
  5465. Nager syndrome
  5466. Nail anomaly
  5467. Nail-patella syndrome
  5468. Nail-patella-like renal disease
  5469. Nakajo-Nishimura syndrome
  5470. NAME syndrome
  5471. Nance-Horan syndrome
  5472. Nanophthalmos
  5473. Narcolepsy
  5474. Narcolepsy type 1
  5475. Narcolepsy type 2
  5476. NARP syndrome
  5477. Nasal dermoid cyst
  5478. Nasal dorsum fistula
  5479. Nasal encephalocele
  5480. Nasal ganglioglioma
  5481. Nasal glial heterotopia
  5482. Nasolacrimal duct cyst
  5483. Nasopalpebral lipoma-coloboma syndrome
  5484. Nasopharyngeal carcinoma
  5485. Nasopharyngeal teratoma
  5486. Nasu-Hakola disease
  5487. Nathalie syndrome
  5488. Native American myopathy
  5489. Navajo neurohepatopathy
  5490. Naxos disease
  5491. NDE1-related microhydranencephaly
  5492. Necrobiosis lipoidica
  5493. Necrobiotic xanthogranuloma
  5494. Necrotizing cellulitis
  5495. Necrotizing enterocolitis
  5496. Necrotizing fasciitis
  5497. Necrotizing myositis
  5498. Necrotizing soft tissue infection
  5499. NEK9-related lethal skeletal dysplasia
  5500. Nelson syndrome
  5501. Nemaline myopathy
  5502. NEMO deleted exon 5 autoinflammatory syndrome
  5503. Neonatal acute respiratory distress syndrome
  5504. Neonatal adrenoleukodystrophy
  5505. Neonatal alloimmune neutropenia
  5506. Neonatal antiphospholipid syndrome
  5507. Neonatal autoimmune hemolytic anemia
  5508. Neonatal brainstem dysfunction
  5509. Neonatal compartment syndrome
  5510. Neonatal dermatomyositis
  5511. Neonatal diabetes mellitus
  5512. Neonatal glycine encephalopathy
  5513. Neonatal hemochromatosis
  5514. Neonatal hypoxic and ischemic brain injury
  5515. Neonatal ichthyosis-sclerosing cholangitis syndrome
  5516. Neonatal iodine exposure
  5517. Neonatal lupus erythematosus
  5518. Neonatal Marfan syndrome
  5519. Neonatal neutropenia
  5520. Neonatal osteosclerotic dysplasia
  5521. Neonatal renal venous thrombosis
  5522. Neonatal scleroderma
  5523. Neonatal severe primary hyperparathyroidism
  5524. Neonatal-infantile onset epilepsy syndrome
  5525. Neovascular glaucoma
  5526. Nephroblastoma
  5527. Nephrogenic syndrome of inappropriate antidiuresis
  5528. Nephrogenic systemic fibrosis
  5529. Nephronophthisis
  5530. Nephropathy-deafness-hyperparathyroidism syndrome
  5531. Nephrotic syndrome without extrarenal manifestations
  5532. NESCAV syndrome
  5533. Nestor-Guillermo progeria syndrome
  5534. Netherton syndrome
  5535. Neu-Laxova syndrome
  5536. Neuhauser anomaly
  5537. Neuhauser-Eichner-Opitz syndrome
  5538. Neural tube closure defect
  5539. Neural tube defect
  5540. Neuralgic amyotrophy
  5541. Neurenteric cyst
  5542. Neuro-ophthalmological disease
  5543. Neuroacanthocytosis
  5544. Neuroblastoma
  5545. Neurocutaneous melanocytosis
  5546. Neurocutaneous syndrome with epilepsy
  5547. Neurodegeneration with brain iron accumulation
  5548. Neurodegenerative disease with chorea
  5549. Neurodegenerative disease with dementia
  5550. Neuroectodermal melanolysosomal disease
  5551. Neuroectodermal-endocrine syndrome
  5552. Neuroendocrine carcinoma of pancreas
  5553. Neuroendocrine cell hyperplasia of infancy
  5554. Neuroendocrine neoplasm
  5555. Neuroendocrine neoplasm of appendix
  5556. Neuroendocrine neoplasm of esophagus
  5557. Neuroendocrine neoplasm of pancreas
  5558. Neuroendocrine tumor of anal canal
  5559. Neuroendocrine tumor of pancreas
  5560. Neuroendocrine tumor of stomach
  5561. Neuroendocrine tumor of the colon
  5562. Neuroendocrine tumor of the rectum
  5563. Neuroendocrine tumor of the small intestine
  5564. Neuroendocrine tumor with other location
  5565. Neurofaciodigitorenal syndrome
  5566. Neuroferritinopathy
  5567. Neurofibroma
  5568. Neurofibromatosis type 1
  5569. Neurofibromatosis-Noonan syndrome
  5570. Neurofibromatosis/schwannomatosis
  5571. Neurogenic arthrogryposis multiplex congenita
  5572. Neurogenic scapuloperoneal syndrome, Kaeser type
  5573. Neurogenic thoracic outlet syndrome
  5574. Neuroleptic malignant syndrome
  5575. Neurolymphomatosis
  5576. Neurometabolic disease
  5577. Neurometabolic disorder due to serine deficiency
  5578. Neuromuscular disease
  5579. Neuromuscular disease with dilated cardiomyopathy
  5580. Neuromuscular junction disease
  5581. Neuromyelitis optica
  5582. Neuromyelitis optica spectrum disorder
  5583. Neuronal ceroid lipofuscinosis
  5584. Neuronal intestinal pseudoobstruction
  5585. Neuronal intranuclear inclusion disease
  5586. Neuronal tumor
  5587. Neurooculocardiogenitourinary syndrome
  5588. Neuropathy with hearing impairment
  5589. Neurotrophic keratopathy
  5590. Neurovascular malformation
  5591. Neutral lipid storage disease
  5592. Neutral lipid storage disease with ichthyosis
  5593. Neutral lipid storage disease with myopathy
  5594. Neutropenia-monocytopenia-deafness syndrome
  5595. NEVADA syndrome
  5596. Nevo syndrome
  5597. Nevus comedonicus syndrome
  5598. Nevus of Ito
  5599. Nevus of Ota
  5600. New-onset refractory status epilepticus
  5601. NFKB1-related immune dysregulation
  5602. Nicolaides-Baraitser syndrome
  5603. Nicolau syndrome
  5604. Niemann-Pick disease type C
  5605. Niemann-Pick disease type C, adult neurologic onset
  5606. Niemann-Pick disease type C, juvenile neurologic onset
  5607. Niemann-Pick disease type C, severe perinatal form
  5608. Niemann-Pick disease type D
  5609. Night blindness-skeletal anomalies-dysmorphism syndrome
  5610. Nijmegen breakage syndrome
  5611. Nijmegen breakage syndrome-like disorder
  5612. NIK deficiency
  5613. Nipah virus disease
  5614. NK-cell enteropathy
  5615. NLRC4-related familial cold autoinflammatory syndrome
  5616. NLRP12-associated hereditary periodic fever syndrome
  5617. NLRP3-associated autoinflammatory disease
  5618. NMDA receptor encephalitis
  5619. Nocardiosis
  5620. NOCARH syndrome
  5621. Nodal marginal zone B-cell lymphoma
  5622. Nodal T-follicular helper cell lymphoma, follicular type
  5623. Nodular cutaneous amyloidosis
  5624. Nodular fasciitis
  5625. Nodular lichen myxedematosus
  5626. Nodular lymphocyte predominant Hodgkin lymphoma
  5627. Nodular neuronal heterotopia
  5628. Nodular non-suppurative panniculitis
  5629. Nodular regenerative hyperplasia of the liver
  5630. Nodular urticaria pigmentosa
  5631. Nodulosis-arthropathy-osteolysis syndrome
  5632. Noma
  5633. NON RARE IN EUROPE: Acanthosis nigricans
  5634. NON RARE IN EUROPE: Adenocarcinoma of stomach
  5635. NON RARE IN EUROPE: Adenocarcinoma of the lung
  5636. NON RARE IN EUROPE: Adolescent idiopathic scoliosis
  5637. NON RARE IN EUROPE: Adrenal incidentaloma
  5638. NON RARE IN EUROPE: Adrenocortical adenoma
  5639. NON RARE IN EUROPE: Age-related macular degeneration
  5640. NON RARE IN EUROPE: Aldosterone-producing adenoma
  5641. NON RARE IN EUROPE: Alzheimer disease
  5642. NON RARE IN EUROPE: Ankylosing spondylitis
  5643. NON RARE IN EUROPE: Anorexia nervosa
  5644. NON RARE IN EUROPE: Asperger syndrome
  5645. NON RARE IN EUROPE: Atypical arterial duct
  5646. NON RARE IN EUROPE: Atypical mole
  5647. NON RARE IN EUROPE: Autism
  5648. NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris
  5649. NON RARE IN EUROPE: Barrett esophagus
  5650. NON RARE IN EUROPE: Benign ductal tumor of breast
  5651. NON RARE IN EUROPE: Benign familial hematuria
  5652. NON RARE IN EUROPE: Bicuspid aortic valve
  5653. NON RARE IN EUROPE: Bladder cancer
  5654. NON RARE IN EUROPE: Brachydactyly type A3
  5655. NON RARE IN EUROPE: Brachydactyly type D
  5656. NON RARE IN EUROPE: Buschke-Ollendorff syndrome
  5657. NON RARE IN EUROPE: Carpal tunnel syndrome
  5658. NON RARE IN EUROPE: Celiac disease
  5659. NON RARE IN EUROPE: Central precocious puberty
  5660. NON RARE IN EUROPE: Cerebral cavernous malformations
  5661. NON RARE IN EUROPE: Chronic fatigue syndrome
  5662. NON RARE IN EUROPE: Cirrhotic cardiomyopathy
  5663. NON RARE IN EUROPE: Cluster headache
  5664. NON RARE IN EUROPE: Colorectal cancer
  5665. NON RARE IN EUROPE: Common mesentery
  5666. NON RARE IN EUROPE: Cordiform uterus
  5667. NON RARE IN EUROPE: Cortisol-producing adrenal tumor
  5668. NON RARE IN EUROPE: Crohn disease
  5669. NON RARE IN EUROPE: Dementia with Lewy body
  5670. NON RARE IN EUROPE: Diabetes mellitus type 1
  5671. NON RARE IN EUROPE: Eosinophilic esophagitis
  5672. NON RARE IN EUROPE: Essential hypertension
  5673. NON RARE IN EUROPE: Essential strabismus
  5674. NON RARE IN EUROPE: Exfoliation syndrome
  5675. NON RARE IN EUROPE: Familial combined hyperlipoproteinemia
  5676. NON RARE IN EUROPE: Familial Dupuytren contracture
  5677. NON RARE IN EUROPE: Familial hypobetalipoproteinemia
  5678. NON RARE IN EUROPE: Familial otosclerosis
  5679. NON RARE IN EUROPE: FG syndrome phenotypic spectrum
  5680. NON RARE IN EUROPE: Fibromuscular dysplasia of arteries
  5681. NON RARE IN EUROPE: Fibromyalgia
  5682. NON RARE IN EUROPE: Gender dysphoria
  5683. NON RARE IN EUROPE: Gilbert syndrome
  5684. NON RARE IN EUROPE: Gonorrhea
  5685. NON RARE IN EUROPE: HAIR-AN syndrome
  5686. NON RARE IN EUROPE: Hashimoto thyroiditis
  5687. NON RARE IN EUROPE: Hemochromatosis type 1
  5688. NON RARE IN EUROPE: Hereditary essential tremor
  5689. NON RARE IN EUROPE: Hidradenitis suppurativa
  5690. NON RARE IN EUROPE: Horseshoe kidney
  5691. NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis
  5692. NON RARE IN EUROPE: Hyperlipoproteinemia type 4
  5693. NON RARE IN EUROPE: Hypodontia
  5694. NON RARE IN EUROPE: Idiopathic central precocious puberty
  5695. NON RARE IN EUROPE: Idiopathic facial palsy
  5696. NON RARE IN EUROPE: Idiopathic infantile nystagmus
  5697. NON RARE IN EUROPE: Immunoglobulin A deficiency
  5698. NON RARE IN EUROPE: Infantile capillary hemangioma
  5699. NON RARE IN EUROPE: Isolated keratoconus
  5700. NON RARE IN EUROPE: Juvenile idiopathic scoliosis
  5701. NON RARE IN EUROPE: Klinefelter syndrome
  5702. NON RARE IN EUROPE: Lactase non-persistence in adulthood
  5703. NON RARE IN EUROPE: Lichen sclerosus
  5704. NON RARE IN EUROPE: Lipedema
  5705. NON RARE IN EUROPE: Macular telangiectasia type 2
  5706. NON RARE IN EUROPE: Melanoma
  5707. NON RARE IN EUROPE: Meniere disease
  5708. NON RARE IN EUROPE: Metabolic syndrome
  5709. NON RARE IN EUROPE: Multiple sclerosis
  5710. NON RARE IN EUROPE: Myopic macular degeneration
  5711. NON RARE IN EUROPE: Non rare obesity
  5712. NON RARE IN EUROPE: Non rare thrombophilia
  5713. NON RARE IN EUROPE: Non-alcoholic fatty liver disease
  5714. NON RARE IN EUROPE: Non-small cell lung cancer
  5715. NON RARE IN EUROPE: Normal pressure hydrocephalus
  5716. NON RARE IN EUROPE: Obesity due to MC3R deficiency
  5717. NON RARE IN EUROPE: Oral erosive lichen
  5718. NON RARE IN EUROPE: Paget disease of bone
  5719. NON RARE IN EUROPE: Parkinson disease
  5720. NON RARE IN EUROPE: Partial color blindness, deutan type
  5721. NON RARE IN EUROPE: Partial color blindness, protan type
  5722. NON RARE IN EUROPE: Patent arterial duct
  5723. NON RARE IN EUROPE: Patent foramen ovale
  5724. NON RARE IN EUROPE: Pericarditis
  5725. NON RARE IN EUROPE: Perineural cyst
  5726. NON RARE IN EUROPE: Periventricular leukomalacia
  5727. NON RARE IN EUROPE: Pernicious anemia
  5728. NON RARE IN EUROPE: Peyronie syndrome
  5729. NON RARE IN EUROPE: Pigment-dispersion syndrome
  5730. NON RARE IN EUROPE: Polycystic ovary syndrome
  5731. NON RARE IN EUROPE: Polymyalgia rheumatica
  5732. NON RARE IN EUROPE: Post-herpetic neuralgia
  5733. NON RARE IN EUROPE: Primary adult open-angle glaucoma
  5734. NON RARE IN EUROPE: Primary bile acid malabsorption
  5735. NON RARE IN EUROPE: Primary ovarian failure
  5736. NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency
  5737. NON RARE IN EUROPE: Psoriatic arthritis
  5738. NON RARE IN EUROPE: Recurrent acute pancreatitis
  5739. NON RARE IN EUROPE: Rheumatoid arthritis
  5740. NON RARE IN EUROPE: Scheuermann's disease
  5741. NON RARE IN EUROPE: Schizophrenia
  5742. NON RARE IN EUROPE: Secondary central precocious puberty
  5743. NON RARE IN EUROPE: Secondary Sjogren syndrome
  5744. NON RARE IN EUROPE: Sjogren syndrome
  5745. NON RARE IN EUROPE: Solitary renal cyst
  5746. NON RARE IN EUROPE: Specific language impairment
  5747. NON RARE IN EUROPE: Stuccokeratosis
  5748. NON RARE IN EUROPE: Sudden infant death syndrome
  5749. NON RARE IN EUROPE: Taurodontism
  5750. NON RARE IN EUROPE: Thyroglossal duct cyst
  5751. NON RARE IN EUROPE: Tourette syndrome
  5752. NON RARE IN EUROPE: Trimethylaminuria
  5753. NON RARE IN EUROPE: Trochlear dysplasia
  5754. NON RARE IN EUROPE: Ulcerative colitis
  5755. NON RARE IN EUROPE: Unexplained intellectual disability
  5756. NON RARE IN EUROPE: Ventral hernia
  5757. NON RARE IN EUROPE: Ventricular septal defect
  5758. NON RARE IN EUROPE: Vitiligo
  5759. NON RARE IN EUROPE: Wernicke encephalopathy
  5760. NON RARE IN EUROPE: Wolff-Parkinson-White syndrome
  5761. Non-24-hour sleep-wake syndrome
  5762. Non-acquired combined pituitary hormone deficiency
  5763. Non-acquired isolated growth hormone deficiency
  5764. Non-acquired panhypopituitarism
  5765. Non-acquired pituitary hormone deficiency
  5766. Non-amyloid fibrillary glomerulopathy
  5767. Non-amyloid monoclonal immunoglobulin deposition disease
  5768. Non-central nervous system-localized embryonal carcinoma
  5769. Non-distal deletion 10q syndrome
  5770. Non-distal deletion 12q syndrome
  5771. Non-distal duplication 10q syndrome
  5772. Non-distal duplication 13q syndrome
  5773. Non-distal duplication 9q syndrome
  5774. Non-dystrophic myopathy
  5775. Non-familial dilated cardiomyopathy
  5776. Non-familial hypertrophic cardiomyopathy
  5777. Non-familial rare disease with dilated cardiomyopathy
  5778. Non-familial restrictive cardiomyopathy
  5779. Non-fibrotic hypersensitivity pneumonitis
  5780. Non-functioning neuroendocrine tumor of pancreas
  5781. Non-functioning paraganglioma
  5782. Non-functioning pituitary adenoma
  5783. Non-genetic cardiac rhythm disease
  5784. Non-genetic central precocious puberty in male
  5785. Non-hereditary congenital primary lymphedema
  5786. Non-hereditary degenerative ataxia
  5787. Non-hereditary late-onset primary lymphedema
  5788. Non-hereditary retinoblastoma
  5789. Non-HFE-related hemochromatosis
  5790. Non-histaminic angioedema
  5791. Non-Hodgkin lymphoma
  5792. Non-hypoproteinemic hypertrophic gastropathy
  5793. Non-immune hydrops fetalis
  5794. Non-infectious anterior uveitis
  5795. Non-infectious posterior uveitis
  5796. Non-inflammatory vasculopathy
  5797. Non-insulinoma pancreatogenous hypoglycemia syndrome
  5798. Non-involuting congenital hemangioma
  5799. Non-Langerhans cell histiocytosis
  5800. Non-malignant and non-cirrhotic portal vein thrombosis
  5801. Non-paraneoplastic sensory ganglionopathy
  5802. Non-polyposis Turcot syndrome
  5803. Non-recovering obstetric brachial plexus lesion
  5804. Non-rhizomelic chondrodysplasia punctata
  5805. Non-saccular limited dorsal myeloschisis
  5806. Non-seminomatous germ cell tumor of testis
  5807. Non-severe combined immunodeficiency
  5808. Non-specific early-onset epileptic encephalopathy
  5809. Non-specific interstitial pneumonia
  5810. Non-specific syndromic intellectual disability
  5811. Non-syndromic agammaglobulinemia
  5812. Non-syndromic amelia
  5813. Non-syndromic anal stenosis
  5814. Non-syndromic anorectal malformation
  5815. Non-syndromic anorectal malformation without fistula
  5816. Non-syndromic bicoronal and metopic craniosynostosis
  5817. Non-syndromic bicoronal and sagittal craniosynostosis
  5818. Non-syndromic bicoronal craniosynostosis
  5819. Non-syndromic bilambdoid and sagittal craniosynostosis
  5820. Non-syndromic bilambdoid craniosynostosis
  5821. Non-syndromic bridging bronchus
  5822. Non-syndromic central nervous system malformation
  5823. Non-syndromic cerebral malformation
  5824. Non-syndromic cloacal malformation
  5825. Non-syndromic complete hemimelia
  5826. Non-syndromic complex polydactyly
  5827. Non-syndromic congenital bronchial atresia
  5828. Non-syndromic congenital phagocyte functional defect
  5829. Non-syndromic craniosynostosis
  5830. Non-syndromic diaphragmatic or thoracic malformation
  5831. Non-syndromic esophageal malformation
  5832. Non-syndromic gastroduodenal malformation
  5833. Non-syndromic H-type fistula
  5834. Non-syndromic hemimelia
  5835. Non-syndromic intercalary limb defects
  5836. Non-syndromic intestinal malformation
  5837. Non-syndromic joint formation defects
  5838. Non-syndromic limb malformation
  5839. Non-syndromic limb overgrowth
  5840. Non-syndromic limb reduction defect
  5841. Non-syndromic longitudinal limb defect
  5842. Non-syndromic metopic and sagittal craniosynostosis
  5843. Non-syndromic metopic craniosynostosis
  5844. Non-syndromic multisutural craniosynostosis
  5845. Non-syndromic non-specific multisutural craniosynostosis
  5846. Non-syndromic pansynostosis
  5847. Non-syndromic perineal fistula
  5848. Non-syndromic polydactyly
  5849. Non-syndromic polydactyly, syndactyly and/or hyperphalangy
  5850. Non-syndromic pontocerebellar hypoplasia
  5851. Non-syndromic postaxial polydactyly
  5852. Non-syndromic posterior hypospadias
  5853. Non-syndromic pouch colon
  5854. Non-syndromic preaxial polydactyly
  5855. Non-syndromic rectal atresia
  5856. Non-syndromic rectal stenosis
  5857. Non-syndromic rectourethral fistula
  5858. Non-syndromic rectourethral fistula, bulbar type
  5859. Non-syndromic rectourethral fistula, prostatic type
  5860. Non-syndromic rectovaginal fistula
  5861. Non-syndromic rectovesical fistula
  5862. Non-syndromic renal or urinary tract malformation
  5863. Non-syndromic respiratory or mediastinal malformation
  5864. Non-syndromic sagittal craniosynostosis
  5865. Non-syndromic syndactyly
  5866. Non-syndromic terminal transverse limb defect
  5867. Non-syndromic unicoronal and sagittal craniosynostosis
  5868. Non-syndromic unicoronal craniosynostosis
  5869. Non-syndromic unifrontosphenoidal craniosynostosis
  5870. Non-syndromic unilambdoid craniosynostosis
  5871. Non-syndromic unisquamosal craniosynostosis
  5872. Non-syndromic unisutural craniosynostosis
  5873. Non-syndromic urogenital tract malformation
  5874. Non-syndromic urogenital tract malformation of female
  5875. Non-syndromic urogenital tract malformation of male
  5876. Non-syndromic uterovaginal malformation
  5877. Non-syndromic vestibular fistula
  5878. Non-terminal myelocystocele
  5879. Non-transplant-related bronchiolitis obliterans
  5880. Noonan syndrome
  5881. Noonan syndrome and Noonan-related syndrome
  5882. Noonan syndrome with multiple lentigines
  5883. Noonan syndrome-like disorder with loose anagen hair
  5884. Normokalemic periodic paralysis
  5885. Normosmic congenital hypogonadotropic hypogonadism
  5886. Norrie disease
  5887. North Carolina macular dystrophy
  5888. Northern epilepsy
  5889. Nose and cavum anomaly
  5890. NPHP3-related Meckel-like syndrome
  5891. NTHL1-related polyposis
  5892. Null pituitary adenoma
  5893. Null syndrome
  5894. NUT midline carcinoma
  5895. Nutcracker syndrome
  5896. O'Sullivan-McLeod syndrome
  5897. Obesity
  5898. Obesity due to CEP19 deficiency
  5899. Obesity due to congenital leptin deficiency
  5900. Obesity due to congenital leptin resistance
  5901. Obesity due to leptin receptor gene deficiency
  5902. Obesity due to melanocortin 4 receptor deficiency
  5903. Obesity due to pro-opiomelanocortin deficiency
  5904. Obesity due to prohormone convertase I deficiency
  5905. Obesity due to SIM1 deficiency
  5906. Oblique facial cleft
  5907. Occipital encephalocele
  5908. Occipital horn syndrome
  5909. Occipital neuralgia
  5910. Occipital pachygyria and polymicrogyria
  5911. Occult macular dystrophy
  5912. OCD
  5913. Ocular albinism
  5914. Ocular albinism with congenital sensorineural deafness
  5915. Ocular albinism with late-onset sensorineural deafness
  5916. Ocular cicatricial pemphigoid
  5917. Ocular cystinosis
  5918. Ocular motor apraxia, Cogan type
  5919. Ocular siderosis
  5920. Ocular surface squamous neoplasia
  5921. Oculo-auriculo-vertebral spectrum
  5922. Oculo-oto-facial dysplasia
  5923. Oculo-palato-cerebral syndrome
  5924. Oculoauricular syndrome, Schorderet type
  5925. Oculoauriculofrontonasal syndrome
  5926. Oculoauriculovertebral spectrum with radial defects
  5927. Oculocerebral hypopigmentation syndrome, Cross type
  5928. Oculocerebral hypopigmentation syndrome, Preus type
  5929. Oculocerebrocutaneous syndrome
  5930. Oculocerebrofacial syndrome, Kaufman type
  5931. Oculocerebrorenal syndrome of Lowe
  5932. Oculocutaneous albinism
  5933. Oculocutaneous albinism type 1
  5934. Oculocutaneous albinism type 1A
  5935. Oculocutaneous albinism type 1B
  5936. Oculocutaneous albinism type 2
  5937. Oculocutaneous albinism type 3
  5938. Oculocutaneous albinism type 4
  5939. Oculocutaneous albinism type 5
  5940. Oculocutaneous albinism type 6
  5941. Oculocutaneous albinism type 7
  5942. Oculocutaneous albinism type 8
  5943. Oculocutaneous or ocular albinism
  5944. Oculodental syndrome, Rutherfurd type
  5945. Oculodentodigital dysplasia
  5946. Oculoectodermal syndrome
  5947. Oculofaciocardiodental syndrome
  5948. Oculogastrointestinal muscular dystrophy
  5949. Oculogastrointestinal-neurodevelopmental syndrome
  5950. Oculomaxillofacial dysostosis
  5951. Oculomotor apraxia
  5952. Oculoosteocutaneous syndrome
  5953. Oculootodental syndrome
  5954. Oculopharyngeal muscular dystrophy
  5955. Oculopharyngodistal myopathy
  5956. Oculoskeletodental syndrome
  5957. Oculotrichoanal syndrome
  5958. Oculotrichodysplasia
  5959. Odonto-onycho dysplasia-alopecia syndrome
  5960. Odonto-onycho-dermal dysplasia
  5961. Odonto-tricho-ungual-digito-palmar syndrome
  5962. Odontochondrodysplasia
  5963. Odontohypophosphatasia
  5964. Odontoleukodystrophy
  5965. Odontomatosis-aortae esophagus stenosis syndrome
  5966. Odontomicronychial dysplasia
  5967. Odontotrichomelic syndrome
  5968. Ogden syndrome
  5969. Oguchi disease
  5970. Okamoto syndrome
  5971. Okihiro syndrome
  5972. Okihiro syndrome due to 20q13 microdeletion
  5973. Okihiro syndrome due to a point mutation
  5974. Okur-Chung neurodevelopmental syndrome
  5975. Oley syndrome
  5976. Oligoarticular juvenile idiopathic arthritis
  5977. Oligoastrocytic tumor
  5978. Oligoastrocytoma
  5979. Oligocone trichromacy
  5980. Oligodendroglial tumor
  5981. Oligodendroglioma
  5982. Oligodontia
  5983. Oligodontia-cancer predisposition syndrome
  5984. Oligomeganephronia
  5985. Oligosaccharidosis
  5986. Oliver syndrome
  5987. Olivopontocerebellar atrophy-deafness syndrome
  5988. Ollier disease
  5989. Omenn syndrome
  5990. Omodysplasia
  5991. Omphalocele
  5992. Omphalocele syndrome, Shprintzen-Goldberg type
  5993. Omphalomesenteric cyst
  5994. Omsk hemorrhagic fever
  5995. Onchocerciasis
  5996. Oncogenic osteomalacia
  5997. Onycho-tricho-dysplasia-neutropenia syndrome
  5998. Onychocytic matricoma
  5999. Onychomatricoma
  6000. Open iniencephaly
  6001. Open spinal dysraphism
  6002. Open spinal dysraphism with a myelomeningocele
  6003. Open spinal dysraphism with a posterior meningocele
  6004. Ophthalmomandibulomelic dysplasia
  6005. Opitz GBBB syndrome
  6006. Opsismodysplasia
  6007. Opsoclonus-myoclonus syndrome
  6008. Optic atrophy-intellectual disability syndrome
  6009. Optic disc pit
  6010. Optic pathway glioma
  6011. Oral submucous fibrosis
  6012. Orbital leiomyoma
  6013. Organic aciduria
  6014. Orgasm-induced epilepsy
  6015. Ornithine transcarbamylase deficiency
  6016. Orofacial clefting syndrome
  6017. Orofaciodigital syndrome
  6018. Orofaciodigital syndrome type 1
  6019. Orofaciodigital syndrome type 11
  6020. Orofaciodigital syndrome type 14
  6021. Orofaciodigital syndrome type 18
  6022. Orofaciodigital syndrome type 2
  6023. Orofaciodigital syndrome type 3
  6024. Orofaciodigital syndrome type 4
  6025. Orofaciodigital syndrome type 5
  6026. Orofaciodigital syndrome type 6
  6027. Orofaciodigital syndrome type 7
  6028. Orofaciodigital syndrome type 8
  6029. Orofaciodigital syndrome type 9
  6030. Oromandibular dystonia
  6031. Oromandibular-limb anomalies syndrome
  6032. Oromandibular-limb hypogenesis syndrome
  6033. Oroya fever
  6034. Orthostatic hypotension
  6035. Osgood-Schlatter disease
  6036. OSLAM syndrome
  6037. Osteoarthritis
  6038. Osteoblastoma
  6039. Osteochondritis dissecans
  6040. Osteochondrosis
  6041. Osteochondrosis of genetic origin
  6042. Osteochondrosis of the metatarsal bone
  6043. Osteochondrosis of the tarsal bone
  6044. Osteocraniostenosis
  6045. Osteofibrous dysplasia
  6046. Osteogenesis imperfecta
  6047. Osteogenesis imperfecta type 1
  6048. Osteogenesis imperfecta type 2
  6049. Osteogenesis imperfecta type 3
  6050. Osteogenesis imperfecta type 4
  6051. Osteogenesis imperfecta type 5
  6052. Osteoglosphonic dysplasia
  6053. Osteomesopyknosis
  6054. Osteonecrosis
  6055. Osteonecrosis of genetic origin
  6056. Osteonecrosis of the jaw
  6057. Osteopathia striata-cranial sclerosis syndrome
  6058. Osteopenia-intellectual disability-sparse hair syndrome
  6059. Osteopetrosis and related disorders
  6060. Osteopetrosis with renal tubular acidosis
  6061. Osteopetrosis-hypogammaglobulinemia syndrome
  6062. Osteoporosis
  6063. Osteoporosis-oculocutaneous hypopigmentation syndrome
  6064. Osteoporosis-pseudoglioma syndrome
  6065. Osteoradionecrosis of the mandible
  6066. Osteosarcoma
  6067. Osteosclerotic bone dysplasia
  6068. Osteosclerotic metaphyseal dysplasia
  6069. Other acquired skin disease
  6070. Other dermis disorder
  6071. Other epidermal disorder
  6072. Other genetic dermis disorder
  6073. Other genetic epidermal disease
  6074. Other metabolic disease
  6075. Other metabolic disease with epilepsy
  6076. Other metabolic disease with skin involvement
  6077. Other rare diabetes mellitus
  6078. Other syndrome with lissencephaly as a major feature
  6079. Otodental syndrome
  6080. Otofaciocervical syndrome
  6081. Otomandibular dysplasia
  6082. Otomandibular syndrome
  6083. Otoonychoperoneal syndrome
  6084. Otopalatodigital syndrome spectrum disorder
  6085. Otopalatodigital syndrome type 1
  6086. Otopalatodigital syndrome type 2
  6087. Ovarian dysgerminoma
  6088. Ovarian fibroma
  6089. Ovarian fibrothecoma
  6090. Ovarian hyperstimulation syndrome
  6091. Ovarioleukodystrophy
  6092. Overactive bladder
  6093. Overgrowth syndrome
  6094. Overgrowth syndrome with 2q37 translocation
  6095. Overgrowth-macrocephaly-facial dysmorphism syndrome
  6096. Overgrowth/obesity syndrome
  6097. Overhydrated hereditary stomatocytosis
  6098. Overlap myositis
  6099. Overlapping connective tissue disease
  6100. Oxoglutaric aciduria
  6101. Pachydermoperiostosis
  6102. Pachygyria-intellectual disability-epilepsy syndrome
  6103. Pachyonychia congenita
  6104. Paget disease of the nipple
  6105. PAGOD syndrome
  6106. Pai syndrome
  6107. PAICS deficiency
  6108. Painful legs and moving toes syndrome
  6109. Pallister-Hall syndrome
  6110. Pallister-Killian syndrome
  6111. Palmoplantar keratoderma with tonotubular keratin
  6112. Palmoplantar keratoderma, Nagashima type
  6113. Palmoplantar keratoderma-deafness syndrome
  6114. Palmoplantar keratoderma-esophageal carcinoma syndrome
  6115. Palmoplantar keratoderma-spastic paralysis syndrome
  6116. Palmoplantar porokeratosis of Mantoux
  6117. Pancreatic agenesis-holoprosencephaly syndrome
  6118. Pancreatic arteriovenous malformation
  6119. Pancreatic colipase deficiency
  6120. Pancreatic insufficiency-anemia-hyperostosis syndrome
  6121. Pancreatic solid pseudopapillary neoplasm
  6122. Pancreatic triacylglycerol lipase deficiency
  6123. Pancreatoblastoma
  6124. Pancytopenia-developmental delay syndrome
  6125. PANDAS
  6126. Panhypophysitis
  6127. Panic disorder
  6128. Panner disease
  6129. Panniculitis-induced localized lipodystrophy
  6130. Pantothenate kinase-associated neurodegeneration
  6131. Panuveitis
  6132. PAPA syndrome
  6133. PAPASH syndrome
  6134. Papillary glioneuronal tumor
  6135. Papillary hemangioma
  6136. Papillary intralymphatic angioendothelioma
  6137. Papillary renal cell carcinoma
  6138. Papillary tumor of the pineal region
  6139. Papilloma of choroid plexus
  6140. Papillon-Lefevre syndrome
  6141. Papular elastorrhexis
  6142. Papular mucinosis of infancy
  6143. Papular xanthoma
  6144. Paracetamol poisoning
  6145. Parachute tricuspid valve
  6146. Paracoccidioidomycosis
  6147. Paragonimiasis
  6148. Paralytic facial malformation
  6149. Paramedian facial cleft
  6150. Paramedian nasal cleft
  6151. Paramyotonia congenita of Von Eulenburg
  6152. Parana hard skin syndrome
  6153. Paraneoplastic cerebellar degeneration
  6154. Paraneoplastic isolated brainstem encephalitis
  6155. Paraneoplastic neurologic syndrome
  6156. Paraneoplastic pemphigus
  6157. Paraneoplastic sensory ganglionopathy
  6158. Paraneoplastic uveitis
  6159. Paraparetic variant of Guillain-Barre syndrome
  6160. Paraplegia-intellectual disability-hyperkeratosis syndrome
  6161. Paraquat poisoning
  6162. Parasitic myositis
  6163. Paraspinal arteriovenous malformation
  6164. Parastremmatic dysplasia
  6165. Paratesticular adenocarcinoma
  6166. Parathyroid carcinoma
  6167. Paratyphoid fever
  6168. PARC syndrome
  6169. Parenteral nutrition-associated cholestasis
  6170. Parietal encephalocele
  6171. Parietal foramina with clavicular hypoplasia
  6172. Paris-Trousseau thrombocytopenia
  6173. Parkes Weber syndrome
  6174. Parkinson's disease
  6175. Parkinson-dementia complex of Guam
  6176. Parkinsonian-pyramidal syndrome
  6177. Parkinsonism with polyneuropathy
  6178. Paroxysmal cold hemoglobinuria
  6179. Paroxysmal dyskinesia
  6180. Paroxysmal dystonia
  6181. Paroxysmal exertion-induced dyskinesia
  6182. Paroxysmal extreme pain disorder
  6183. Paroxysmal hemicrania
  6184. Paroxysmal hypnogenic dyskinesia
  6185. Paroxysmal kinesigenic dyskinesia
  6186. Paroxysmal nocturnal hemoglobinuria
  6187. Paroxysmal non-kinesigenic dyskinesia
  6188. Partial androgen insensitivity syndrome
  6189. Partial atrioventricular septal defect
  6190. Partial autosomal deletion syndrome
  6191. Partial autosomal duplication/triplication syndrome
  6192. Partial bilateral aplasia of the Mullerian ducts
  6193. Partial cryptophthalmia
  6194. Partial deep dermal and full thickness burns
  6195. Partial deletion of chromosome 1 syndrome
  6196. Partial deletion of chromosome 10 syndrome
  6197. Partial deletion of chromosome 11 syndrome
  6198. Partial deletion of chromosome 12 syndrome
  6199. Partial deletion of chromosome 16 syndrome
  6200. Partial deletion of chromosome 17 syndrome
  6201. Partial deletion of chromosome 18 syndrome
  6202. Partial deletion of chromosome 19 syndrome
  6203. Partial deletion of chromosome 2 syndrome
  6204. Partial deletion of chromosome 20 syndrome
  6205. Partial deletion of chromosome 3 syndrome
  6206. Partial deletion of chromosome 4 syndrome
  6207. Partial deletion of chromosome 5 syndrome
  6208. Partial deletion of chromosome 6 syndrome
  6209. Partial deletion of chromosome 7 syndrome
  6210. Partial deletion of chromosome 8 syndrome
  6211. Partial deletion of chromosome 9 syndrome
  6212. Partial deletion of chromosome X syndrome
  6213. Partial deletion of the long arm of chromosome 1 syndrome
  6214. Partial deletion of the long arm of chromosome 2 syndrome
  6215. Partial deletion of the long arm of chromosome 3 syndrome
  6216. Partial deletion of the long arm of chromosome 4 syndrome
  6217. Partial deletion of the long arm of chromosome 5 syndrome
  6218. Partial deletion of the long arm of chromosome 6 syndrome
  6219. Partial deletion of the long arm of chromosome 7 syndrome
  6220. Partial deletion of the long arm of chromosome 8 syndrome
  6221. Partial deletion of the long arm of chromosome 9 syndrome
  6222. Partial deletion of the long arm of chromosome X syndrome
  6223. Partial duplication of chromosome 1 syndrome
  6224. Partial duplication of chromosome 10 syndrome
  6225. Partial duplication of chromosome 11 syndrome
  6226. Partial duplication of chromosome 16 syndrome
  6227. Partial duplication of chromosome 17 syndrome
  6228. Partial duplication of chromosome 19 syndrome
  6229. Partial duplication of chromosome 2 syndrome
  6230. Partial duplication of chromosome 20 syndrome
  6231. Partial duplication of chromosome 3 syndrome
  6232. Partial duplication of chromosome 4 syndrome
  6233. Partial duplication of chromosome 6 syndrome
  6234. Partial duplication of chromosome 7 syndrome
  6235. Partial duplication of chromosome 8 syndrome
  6236. Partial duplication of chromosome X syndrome
  6237. Partial duplication/triplication of chromosome 5 syndrome
  6238. Partial duplication/triplication of chromosome 9 syndrome
  6239. Partial hydatidiform mole
  6240. Partial pancreatic agenesis
  6241. Partial septate uterus
  6242. Partial trisomy 12q syndrome
  6243. Partially involuting congenital hemangioma
  6244. Partington syndrome
  6245. Partington-Anderson syndrome
  6246. PASH syndrome
  6247. PASS syndrome
  6248. Patella aplasia-coxa vara-tarsal synostosis syndrome
  6249. Patellar dysostosis
  6250. Patent urachus
  6251. Paternal 20q13.2q13.3 microdeletion syndrome
  6252. Paternal uniparental disomy of chromosome 1 syndrome
  6253. Paternal uniparental disomy of chromosome 13 syndrome
  6254. Paternal uniparental disomy of chromosome 20 syndrome
  6255. Paternal uniparental disomy of chromosome 21 syndrome
  6256. Paternal uniparental disomy of chromosome 5 syndrome
  6257. Paternal uniparental disomy of chromosome 6 syndrome
  6258. Paternal uniparental disomy of chromosome 7 syndrome
  6259. Paternal uniparental disomy of chromosome X syndrome
  6260. Paternal uniparental disomy syndrome
  6261. Pattern dystrophy
  6262. Patterson-Stevenson-Fontaine syndrome
  6263. Pauci-immune glomerulonephritis
  6264. Pauci-immune glomerulonephritis with ANCA
  6265. Pauci-immune glomerulonephritis without ANCA
  6266. PCDH19 clustering epilepsy
  6267. PCOS
  6268. PDE4D haploinsufficiency syndrome
  6269. Pearson syndrome
  6270. Pectus excavatum-macrocephaly-dysplastic nails syndrome
  6271. Pediatric acute respiratory distress syndrome
  6272. Pediatric arterial ischemic stroke
  6273. Pediatric collagenous gastritis
  6274. Pediatric hepatocellular carcinoma
  6275. Pediatric multiple sclerosis
  6276. Pediatric systemic lupus erythematosus
  6277. Pediatric-onset glaucoma
  6278. Pediatric-onset glaucoma of genetic origin
  6279. Pediatric-onset Graves disease
  6280. Peeling skin syndrome
  6281. Peeling skin syndrome type A
  6282. Peeling skin syndrome type B
  6283. PEHO syndrome
  6284. PEHO-like syndrome
  6285. Pelizaeus-Merzbacher disease
  6286. Pelizaeus-Merzbacher disease in female carriers
  6287. Pelizaeus-Merzbacher disease, classic form
  6288. Pelizaeus-Merzbacher disease, connatal form
  6289. Pelizaeus-Merzbacher disease, transitional form
  6290. Pelizaeus-Merzbacher-like disease
  6291. Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
  6292. Pelizaeus-Merzbacher-like disease due to GJC2 mutation
  6293. Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
  6294. Pellagra
  6295. Pellucid marginal degeneration
  6296. Pelvic arteriovenous malformation
  6297. Pelvic congestion syndrome
  6298. Pelvic dysplasia-arthrogryposis of lower limbs syndrome
  6299. Pelvic floor dysfunction
  6300. Pelvis-shoulder dysplasia
  6301. Pelviscapular dysplasia
  6302. Pemphigoid gestationis
  6303. Pemphigus erythematosus
  6304. Pemphigus foliaceus
  6305. Pemphigus vegetans
  6306. Pemphigus vulgaris
  6307. Pendred syndrome
  6308. Penile agenesis
  6309. Penoscrotal transposition
  6310. PENS syndrome
  6311. Pentalogy of Cantrell
  6312. Pentasomy X syndrome
  6313. Pentosuria
  6314. Pericardial and diaphragmatic defect
  6315. Perifoveal exudative vascular anomalous complex
  6316. Perihilar cholangiocarcinoma
  6317. Perimenopause
  6318. Perinatal lethal hypophosphatasia
  6319. Perineurioma
  6320. Periodic fever syndrome
  6321. Periodic fever syndrome of childhood
  6322. Periodic fever-immunodeficiency-thrombocytopenia syndrome
  6323. Periodic paralysis
  6324. Periodontal Ehlers-Danlos syndrome
  6325. Perioral myoclonia with absences
  6326. Peripapillary staphyloma
  6327. Peripartum cardiomyopathy
  6328. Peripheral arteriovenous malformation
  6329. Peripheral artery disease
  6330. Peripheral congenital arteriovenous fistula
  6331. Peripheral fast-flow vascular malformation
  6332. Peripheral motor neuropathy-dysautonomia syndrome
  6333. Peripheral neuropathy
  6334. Peripheral primitive neuroectodermal tumor
  6335. Peripheral pulmonary stenosis
  6336. Peritoneal inclusion cyst
  6337. Peritoneal mesothelioma in situ
  6338. Perivascular epithelioid cell neoplasm
  6339. Periventricular nodular heterotopia
  6340. Perlman syndrome
  6341. Permanent congenital hypothyroidism
  6342. Pernicious anaemia
  6343. Peroxisomal acyl-CoA oxidase deficiency
  6344. Peroxisomal beta-oxidation disorder
  6345. Peroxisomal disease
  6346. Peroxisomal disease with epilepsy
  6347. Peroxisome biogenesis disorder
  6348. Perrault syndrome
  6349. Perrault syndrome type 1
  6350. Perrault syndrome type 2
  6351. Perry syndrome
  6352. Persistent combined dystonia
  6353. Persistent eustachian valve
  6354. Persistent fifth aortic arch
  6355. Persistent hyperplastic primary vitreous
  6356. Persistent idiopathic facial pain
  6357. Persistent Mullerian duct syndrome
  6358. Persistent placoid maculopathy
  6359. Persistent polyclonal B-cell lymphocytosis
  6360. Peters anomaly
  6361. Peters plus syndrome
  6362. Peutz-Jeghers syndrome
  6363. PFAPA syndrome
  6364. Pfeiffer syndrome
  6365. Pfeiffer syndrome type 1
  6366. Pfeiffer syndrome type 2
  6367. Pfeiffer syndrome type 3
  6368. Pfeiffer-Palm-Teller syndrome
  6369. PGM1-CDG
  6370. PGM3-CDG
  6371. PHACE syndrome
  6372. Phacoanaphylactic uveitis
  6373. Phakomatosis cesioflammea
  6374. Phakomatosis cesiomarmorata
  6375. Phakomatosis pigmentokeratotica
  6376. Phakomatosis pigmentovascularis
  6377. Phakomatosis spilorosea
  6378. Phalangeal microgeodic syndrome
  6379. PHAVER syndrome
  6380. Phelan-McDermid syndrome
  6381. Phelan-McDermid syndrome due to 22q13.3 deletion
  6382. Phelan-McDermid syndrome due to SHANK3 mutation
  6383. Phenobarbital embryopathy
  6384. Phenylalanine hydroxylase deficiency
  6385. Phenylketonuria
  6386. Pheochromocytoma-paraganglioma
  6387. Phocomelia, Schinzel type
  6388. Phosphoenolpyruvate carboxykinase deficiency
  6389. Phosphoribosylformylglycinamidine synthase deficiency
  6390. Phosphoribosylpyrophosphate synthetase superactivity
  6391. Photosensitive occipital lobe epilepsy
  6392. Phyllodes tumor of the breast
  6393. Phyllodes tumor of the prostate
  6394. PIBIDS syndrome
  6395. Piebald trait-neurologic defects syndrome
  6396. Piebaldism
  6397. Piepkorn dysplasia
  6398. Pierpont syndrome
  6399. Pierre Robin syndrome associated with bone disease
  6400. Pierre Robin syndrome associated with collagen disease
  6401. Pierre Robin syndrome-faciodigital anomaly syndrome
  6402. Pierson syndrome
  6403. Pigmentation anomaly of the skin
  6404. Pigmented paravenous retinochoroidal atrophy
  6405. PIK3CA-related overgrowth syndrome
  6406. Pili bifurcati
  6407. Pili gemini
  6408. Pili torti
  6409. Pili torti-onychodysplasia syndrome
  6410. Pilocytic astrocytoma
  6411. Pilodental dysplasia-refractive errors syndrome
  6412. Pilomatrix carcinoma
  6413. Pilomatrixoma
  6414. Pilomyxoid astrocytoma
  6415. Pineal parenchymal tumor of intermediate differentiation
  6416. Pineal tumor of neuroepithelial tissue
  6417. Pineoblastoma
  6418. Pineocytoma
  6419. Pinnae and external auditory canal anomaly
  6420. Pinnae fistula or cyst
  6421. Pinsky-Di George-Harley syndrome
  6422. Pipecolic acidemia
  6423. Pitt-Hopkins syndrome
  6424. Pitt-Rogers-Danks syndrome
  6425. Pituicytoma
  6426. Pituitary adenoma
  6427. Pituitary apoplexy
  6428. Pituitary carcinoma
  6429. Pituitary deficiency
  6430. Pituitary deficiency due to empty sella turcica syndrome
  6431. Pituitary deficiency due to Rathke cleft cysts
  6432. Pituitary dermoid and epidermoid cysts
  6433. Pituitary disorder
  6434. Pituitary gigantism
  6435. Pituitary hormone deficiency of meningeal origin
  6436. Pituitary hormone deficiency of tumoral origin
  6437. Pituitary hormone deficiency of vascular origin
  6438. Pituitary hormone deficiency secondary to storage disease
  6439. Pituitary resistance to thyroid hormone
  6440. Pituitary stalk interruption syndrome
  6441. Pituitary tumor
  6442. Pityriasis rubra pilaris
  6443. PLA2G6-associated neurodegeneration
  6444. PLAA-associated neurodevelopmental disorder
  6445. Placenta accreta spectrum disorder
  6446. Placental insufficiency
  6447. Placental site trophoblastic tumor
  6448. Plague
  6449. Plaque-form urticaria pigmentosa
  6450. Plasma cell leukemia
  6451. Plasma cell tumor
  6452. Plasmablastic lymphoma
  6453. Plasmacytoma
  6454. Plastic bronchitis
  6455. Platelet-activating anti-platelet factor 4 disorder
  6456. Platyspondylic dysplasia, Torrance type
  6457. Plectin-related limb-girdle muscular dystrophy R17
  6458. Pleomorphic liposarcoma
  6459. Pleomorphic rhabdomyosarcoma
  6460. Pleomorphic xanthoastrocytoma
  6461. Pleural empyema
  6462. Pleural mesothelioma
  6463. Pleural mesothelioma in situ
  6464. Pleuro-pericardial cyst
  6465. Pleuropulmonary blastoma
  6466. Pleuropulmonary blastoma type 1
  6467. Pleuropulmonary blastoma type 2
  6468. Pleuropulmonary blastoma type 3
  6469. PLG-related hereditary angioedema with normal C1Inh
  6470. PLIN1-related familial partial lipodystrophy
  6471. PLIN4-related distal myopathy
  6472. Plummer-Vinson syndrome
  6473. PMDD
  6474. PMM2-CDG
  6475. PMP2-related Charcot-Marie-Tooth disease type 1
  6476. PMP22-RAI1 contiguous gene duplication syndrome
  6477. Pneumococcal meningitis
  6478. Pneumoconiosis
  6479. Pneumocystosis
  6480. Pneumonia caused by Pseudomonas aeruginosa infection
  6481. POEMS syndrome
  6482. POGLUT1-related limb-girdle muscular dystrophy R21
  6483. Poikiloderma with neutropenia
  6484. Poirier-Bienvenu neurodevelopmental syndrome
  6485. Poland syndrome
  6486. Poliomyelitis
  6487. Pollitt syndrome
  6488. Polyarteritis nodosa
  6489. Polyarticular juvenile idiopathic arthritis
  6490. Polyclonal hyperviscosity syndrome
  6491. Polycystic kidney disease
  6492. Polycythemia
  6493. Polycythemia vera
  6494. Polydactyly of a biphalangeal thumb and/or hallux
  6495. Polydactyly of a triphalangeal thumb
  6496. Polydactyly of an index finger
  6497. Polydactyly-myopia syndrome
  6498. Polyembryoma
  6499. Polyendocrine-polyneuropathy syndrome
  6500. Polyendocrinopathy
  6501. Polyglucosan body myopathy type 1
  6502. Polyglucosan body myopathy type 2
  6503. Polymerase proofreading-related polyposis
  6504. Polymicrogyria
  6505. Polymicrogyria due to TUBB2B mutation
  6506. Polymicrogyria with optic nerve hypoplasia
  6507. Polymyalgia rheumatica
  6508. Polymyositis
  6509. Polyneuropathy associated with IgM monoclonal gammopathy
  6510. Polyostotic fibrous dysplasia
  6511. Polyploidy syndrome
  6512. Polyrrhinia
  6513. Polysomy of X chromosome syndrome
  6514. Polysyndactyly
  6515. Polysyndactyly-cardiac malformation syndrome
  6516. POMGNT1-related limb-girdle muscular dystrophy R15
  6517. POMGNT2-related limb-girdle muscular dystrophy R24
  6518. POMT1-related limb-girdle muscular dystrophy R11
  6519. POMT2-related limb-girdle muscular dystrophy R14
  6520. Pontiac fever
  6521. Pontine tegmental cap dysplasia
  6522. Pontocerebellar hypoplasia type 1
  6523. Pontocerebellar hypoplasia type 10
  6524. Pontocerebellar hypoplasia type 11
  6525. Pontocerebellar hypoplasia type 12
  6526. Pontocerebellar hypoplasia type 13
  6527. Pontocerebellar hypoplasia type 14
  6528. Pontocerebellar hypoplasia type 2
  6529. Pontocerebellar hypoplasia type 3
  6530. Pontocerebellar hypoplasia type 4
  6531. Pontocerebellar hypoplasia type 5
  6532. Pontocerebellar hypoplasia type 6
  6533. Pontocerebellar hypoplasia type 7
  6534. Pontocerebellar hypoplasia type 8
  6535. Pontocerebellar hypoplasia type 9
  6536. Poorly differentiated thymic neuroendocrine carcinoma
  6537. Popliteal pterygium syndrome
  6538. Porencephaly
  6539. Porokeratosis
  6540. Porokeratosis of Mibelli
  6541. Porokeratosis plantaris palmaris et disseminata
  6542. Porokeratotic eccrine ostial and dermal duct nevus
  6543. Porphyria
  6544. Porphyria cutanea tarda
  6545. Porphyria due to ALA dehydratase deficiency
  6546. Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
  6547. Portosinusoidal vascular disease
  6548. Post 5-alpha-reductase inhibitors treatment syndrome
  6549. Post-concussion syndrome
  6550. Post-transplant lymphoproliferative disease
  6551. Post-traumatic pituitary deficiency
  6552. Postaxial acrofacial dysostosis
  6553. Postaxial polydactyly type A
  6554. Postaxial polydactyly type B
  6555. Postaxial tetramelic oligodactyly
  6556. Postcardiotomy right ventricular failure
  6557. Postencephalitic parkinsonism
  6558. Posterior amorphous corneal dystrophy
  6559. Posterior column ataxia-retinitis pigmentosa syndrome
  6560. Posterior corneal dystrophy
  6561. Posterior cortical atrophy
  6562. Posterior extramedullary conus spinal cord lipoma
  6563. Posterior fossa malformation
  6564. Posterior polymorphous corneal dystrophy
  6565. Posterior urethral valve
  6566. Posterior uveitis
  6567. Postinfectious autoimmune disease with chorea
  6568. Postinfectious cerebellitis
  6569. Postinfectious vasculitis
  6570. Postlingual non-syndromic genetic deafness
  6571. Postnatal depression
  6572. Postorgasmic illness syndrome
  6573. Postpartum psychosis
  6574. Postpoliomyelitis syndrome
  6575. Postsynaptic congenital myasthenic syndrome
  6576. Posttransplant acute limbic encephalitis
  6577. Potassium-aggravated myotonia
  6578. Potocki-Shaffer syndrome
  6579. POTS or dysautonomia
  6580. Pouchitis
  6581. PPARG-associated congenital generalized lipodystrophy
  6582. PPARG-related familial partial lipodystrophy
  6583. PPoma
  6584. Prader-Willi syndrome
  6585. Prader-Willi syndrome due to imprinting mutation
  6586. Prader-Willi syndrome due to paternal 15q11q13 deletion
  6587. Prader-Willi syndrome due to translocation
  6588. Prader-Willi-like syndrome
  6589. PRC-2 complex-related overgrowth spectrum
  6590. PRDM8-related progressive myoclonus epilepsy
  6591. Pre-Descemet corneal dystrophy
  6592. Preaxial digit brachydactyly-webbed fingers
  6593. Precursor B-cell acute lymphoblastic leukemia
  6594. Precursor T-cell acute lymphoblastic leukemia
  6595. Prediabetes
  6596. Predominantly large-vessel vasculitis
  6597. Predominantly medium-vessel vasculitis
  6598. Predominantly small-vessel vasculitis
  6599. Preeclampsia
  6600. Prelingual non-syndromic genetic deafness
  6601. Premature aging
  6602. Premature closure of the arterial duct
  6603. Prenatal benign hypophosphatasia
  6604. Prepubertal anorexia nervosa
  6605. Pressure-induced localized lipoatrophy
  6606. Presumed ocular histoplasmosis syndrome
  6607. Presynaptic congenital myasthenic syndromes
  6608. Primary acquired pure red cell aplasia
  6609. Primary acquired red cell aplasia
  6610. Primary adrenal insufficiency
  6611. Primary adult heart tumor
  6612. Primary anetoderma
  6613. Primary angiitis of the central nervous system
  6614. Primary autoimmune enteropathy
  6615. Primary avascular necrosis
  6616. Primary basilar invagination
  6617. Primary benign peritoneal tumor
  6618. Primary biliary cholangitis
  6619. Primary bone and joint tuberculosis
  6620. Primary bone dysplasia
  6621. Primary bone dysplasia with decreased bone density
  6622. Primary bone dysplasia with defective bone mineralization
  6623. Primary bone dysplasia with increased bone density
  6624. Primary bone dysplasia with micromelia
  6625. Primary bone dysplasia with multiple joint dislocations
  6626. Primary bone lymphoma
  6627. Primary CD59 deficiency
  6628. Primary central nervous system lymphoma
  6629. Primary central precocious puberty in male
  6630. Primary choroidal lymphoma
  6631. Primary ciliary dyskinesia
  6632. Primary ciliary dyskinesia, Kartagener type
  6633. Primary ciliary dyskinesia-retinitis pigmentosa syndrome
  6634. Primary condylar hyperplasia
  6635. Primary congenital hypothyroidism
  6636. Primary cutaneous amyloidosis
  6637. Primary cutaneous anaplastic large cell lymphoma
  6638. Primary cutaneous B-cell lymphoma
  6639. Primary cutaneous CD30+ T-cell lymphoproliferative disease
  6640. Primary cutaneous diffuse large B-cell lymphoma, leg type
  6641. Primary cutaneous follicle center lymphoma
  6642. Primary cutaneous gamma/delta-positive T-cell lymphoma
  6643. Primary cutaneous lymphoma
  6644. Primary cutaneous marginal zone B-cell lymphoma
  6645. Primary cutaneous plasmacytosis
  6646. Primary cutaneous T-cell lymphoma
  6647. Primary cutaneous tuberculosis
  6648. Primary cutis verticis gyrata
  6649. Primary desmosis coli
  6650. Primary dystonia, DYT13 type
  6651. Primary dystonia, DYT17 type
  6652. Primary dystonia, DYT2 type
  6653. Primary dystonia, DYT21 type
  6654. Primary dystonia, DYT27 type
  6655. Primary dystonia, DYT4 type
  6656. Primary dystonia, DYT6 type
  6657. Primary early-onset glaucoma
  6658. Primary effusion lymphoma
  6659. Primary eosinophilic gastrointestinal disease
  6660. Primary erythromelalgia
  6661. Primary essential cutis verticis gyrata
  6662. Primary failure of tooth eruption
  6663. Primary familial polycythemia
  6664. Primary Fanconi renotubular syndrome
  6665. Primary genito-urinary tuberculosis
  6666. Primary germ cell tumor of central nervous system
  6667. Primary hemophagocytic lymphohistiocytosis
  6668. Primary hepatic neuroendocrine carcinoma
  6669. Primary hypereosinophilic syndrome
  6670. Primary hyperoxaluria
  6671. Primary hyperoxaluria type 1
  6672. Primary hyperoxaluria type 2
  6673. Primary hyperoxaluria type 3
  6674. Primary hypertrophic osteoarthropathy
  6675. Primary hypomagnesemia with secondary hypocalcemia
  6676. Primary hypophysitis
  6677. Primary immunodeficiency
  6678. Primary inferior vena cava aneurysm
  6679. Primary interstitial lung disease specific to adulthood
  6680. Primary interstitial lung disease specific to childhood
  6681. Primary intestinal lymphangiectasia
  6682. Primary intrahepatic lithiasis
  6683. Primary laryngeal lymphangioma
  6684. Primary lateral sclerosis
  6685. Primary lipodystrophy
  6686. Primary localized amyloidosis
  6687. Primary lymphedema
  6688. Primary lymphedema with systemic or visceral involvement
  6689. Primary lymphoma of the conjunctiva
  6690. Primary malignant peritoneal tumor
  6691. Primary mediastinal large B-cell lymphoma
  6692. Primary megaureter, adult-onset form
  6693. Primary melanocytic tumor of central nervous system
  6694. Primary melanoma of the central nervous system
  6695. Primary membranoproliferative glomerulonephritis
  6696. Primary membranous glomerulonephritis
  6697. Primary myelofibrosis
  6698. Primary myoclonus
  6699. Primary non-essential cutis verticis gyrata
  6700. Primary non-gestational choriocarcinoma of ovary
  6701. Primary oculocerebral lymphoma
  6702. Primary organ-specific lymphoma
  6703. Primary orthostatic disorder
  6704. Primary orthostatic hypotension
  6705. Primary orthostatic tremor
  6706. Primary osteolysis
  6707. Primary pediatric heart tumor
  6708. Primary pericardial mesothelioma
  6709. Primary peritoneal carcinoma
  6710. Primary peritoneal tumor
  6711. Primary plasmacytoma of the bone
  6712. Primary polyarteritis nodosa
  6713. Primary progressive aphasia
  6714. Primary progressive apraxia of speech
  6715. Primary progressive freezing gait
  6716. Primary pulmonary hypoplasia
  6717. Primary pulmonary lymphoma
  6718. Primary pulmonary tuberculosis
  6719. Primary pulmonary vein stenosis
  6720. Primary renal tubular acidosis
  6721. Primary sclerosing cholangitis
  6722. Primary short bowel syndrome
  6723. Primary Sjogren disease
  6724. Primary superior vena cava aneurysm
  6725. Primary syringomyelia
  6726. Primary systemic amyloidosis
  6727. Primary tethered cord syndrome
  6728. Primary triglyceride deposit cardiomyovasculopathy
  6729. Primary tuberculosis of the digestive system
  6730. Primary tuberculous lymphadenitis
  6731. Primary unilateral adrenal hyperplasia
  6732. Primary vitreoretinal large B-cell lymphoma
  6733. Primitive neuroectodermal tumor of the cervix uteri
  6734. Primitive neuroectodermal tumor of the corpus uteri
  6735. Proboscis lateralis
  6736. Progeria-short stature-pigmented nevi syndrome
  6737. Progeroid and marfanoid aspect-lipodystrophy syndrome
  6738. Progeroid syndrome
  6739. Progeroid syndrome, Petty type
  6740. Progressive autosomal recessive ataxia-deafness syndrome
  6741. Progressive bifocal chorioretinal atrophy
  6742. Progressive bulbar paralysis of childhood
  6743. Progressive cavitating leukoencephalopathy
  6744. Progressive cerebello-cerebral atrophy
  6745. Progressive cone dystrophy
  6746. Progressive deafness with stapes fixation
  6747. Progressive dementia with neuroserpin inclusion bodies
  6748. Progressive encephalomyelitis with rigidity and myoclonus
  6749. Progressive external ophthalmoplegia
  6750. Progressive familial intrahepatic cholestasis
  6751. Progressive familial intrahepatic cholestasis type 1
  6752. Progressive familial intrahepatic cholestasis type 2
  6753. Progressive familial intrahepatic cholestasis type 3
  6754. Progressive familial intrahepatic cholestasis type 4
  6755. Progressive familial intrahepatic cholestasis type 5
  6756. Progressive hemifacial atrophy
  6757. Progressive multifocal leukoencephalopathy
  6758. Progressive muscular atrophy
  6759. Progressive muscular dystrophy
  6760. Progressive myoclonic epilepsy
  6761. Progressive myoclonic epilepsy type 1
  6762. Progressive myoclonic epilepsy type 3
  6763. Progressive myoclonic epilepsy type 5
  6764. Progressive myoclonic epilepsy type 6
  6765. Progressive myoclonic epilepsy type 7
  6766. Progressive myoclonic epilepsy type 8
  6767. Progressive myoclonic epilepsy type 9
  6768. Progressive myoclonic epilepsy with dystonia
  6769. Progressive nodular histiocytosis
  6770. Progressive non-fluent aphasia
  6771. Progressive non-infectious anterior vertebral fusion
  6772. Progressive osseous heteroplasia
  6773. Progressive pseudorheumatoid dysplasia
  6774. Progressive scapulohumeroperoneal distal myopathy
  6775. Progressive supranuclear palsy
  6776. Progressive supranuclear palsy-corticobasal syndrome
  6777. Progressive symmetric erythrokeratodermia
  6778. Prolactinoma
  6779. Prolidase deficiency
  6780. Proliferating trichilemmal cyst
  6781. Prominent glabella-microcephaly-hypogenitalism syndrome
  6782. Properdin deficiency
  6783. Propionic acidemia
  6784. Propylthiouracil embryofetopathy
  6785. Prostate cancer
  6786. Proteasome-associated autoinflammatory syndrome
  6787. Protein S acquired deficiency
  6788. Proteoglycan-related bone disorder
  6789. Proteus syndrome
  6790. Proteus-like syndrome
  6791. Protoplasmic astrocytoma
  6792. Protracted juvenile CLN3 disease
  6793. Proximal 16p11.2 microdeletion syndrome
  6794. Proximal 16p11.2 microduplication syndrome
  6795. Proximal myopathy with extrapyramidal signs
  6796. Proximal myopathy with focal depletion of mitochondria
  6797. Proximal myotonic myopathy
  6798. Proximal renal tubular acidosis
  6799. Proximal spinal muscular atrophy
  6800. Proximal spinal muscular atrophy type 1
  6801. Proximal spinal muscular atrophy type 2
  6802. Proximal spinal muscular atrophy type 3
  6803. Proximal spinal muscular atrophy type 4
  6804. Proximal symphalangism
  6805. Proximal Xq28 duplication syndrome
  6806. PrP systemic amyloidosis
  6807. Prune belly syndrome
  6808. PRUNE1-related neurological syndrome
  6809. Pruritic urticarial papules and plaques of pregnancy
  6810. PsAPASH syndrome
  6811. Pseudo-Meigs syndrome
  6812. Pseudo-TORCH syndrome type 1
  6813. Pseudo-TORCH syndrome type 2
  6814. Pseudo-TORCH syndrome type 3
  6815. Pseudo-von Willebrand disease
  6816. Pseudo-Zellweger syndrome
  6817. Pseudoachondroplasia
  6818. Pseudoaminopterin syndrome
  6819. Pseudodiastrophic dysplasia
  6820. Pseudohypoaldosteronism
  6821. Pseudohypoaldosteronism type 1
  6822. Pseudohypoaldosteronism type 2
  6823. Pseudohypoaldosteronism type 2A
  6824. Pseudohypoaldosteronism type 2B
  6825. Pseudohypoaldosteronism type 2C
  6826. Pseudohypoaldosteronism type 2D
  6827. Pseudohypoaldosteronism type 2E
  6828. Pseudohypoparathyroidism
  6829. Pseudohypoparathyroidism type 1A
  6830. Pseudohypoparathyroidism type 1B
  6831. Pseudohypoparathyroidism type 1C
  6832. Pseudohypoparathyroidism type 2
  6833. Pseudoleprechaunism syndrome, Patterson type
  6834. Pseudomyogenic hemangioendothelioma
  6835. Pseudomyxoma peritonei
  6836. Pseudopapilledema
  6837. Pseudopelade of Brocq
  6838. Pseudoprogeria syndrome
  6839. Pseudopseudohypoparathyroidism
  6840. Pseudotyphus of California
  6841. Pseudounicornuate uterus
  6842. Pseudoxanthoma elasticum
  6843. Pseudoxanthomatous diffuse cutaneous mastocytosis
  6844. Psittacosis
  6845. Psoriasis
  6846. Psoriasis-related juvenile idiopathic arthritis
  6847. Psoriatic arthritis
  6848. Psychogenic movement disorders
  6849. PTEN hamartoma tumor syndrome
  6850. Pterin-4 alpha-carbinolamine dehydratase deficiency
  6851. Ptosis-strabismus-ectopic pupils syndrome
  6852. Ptosis-syndactyly-learning difficulties syndrome
  6853. Ptosis-vocal cord paralysis syndrome
  6854. PTSD
  6855. Pudendal nerve entrapment syndrome
  6856. Pudendal neuralgia
  6857. Pulmonary agenesis
  6858. Pulmonary alveolar microlithiasis
  6859. Pulmonary arterial hypertension
  6860. Pulmonary arteriovenous malformation
  6861. Pulmonary artery coming from patent ductus arteriosus
  6862. Pulmonary artery hypoplasia
  6863. Pulmonary artery or pulmonary branch anomaly
  6864. Pulmonary atresia with ventricular septal defect
  6865. Pulmonary atresia-intact ventricular septum syndrome
  6866. Pulmonary blastoma
  6867. Pulmonary capillary hemangiomatosis
  6868. Pulmonary fibrosis
  6869. Pulmonary fungal infections in patients deemed at risk
  6870. Pulmonary hypertension
  6871. Pulmonary interstitial glycogenosis
  6872. Pulmonary Langerhans cell histiocytosis
  6873. Pulmonary nodular lymphoid hyperplasia
  6874. Pulmonary non-tuberculous mycobacterial infection
  6875. Pulmonary valve agenesis
  6876. Pulmonary venoocclusive disease
  6877. Pulverulent cataract
  6878. PUM1-related cerebellar ataxia
  6879. Punctate acrokeratoderma freckle-like pigmentation
  6880. Punctate inner choroidopathy
  6881. Punctate palmoplantar keratoderma
  6882. Punctate palmoplantar keratoderma type 1
  6883. Punctate palmoplantar keratoderma type 2
  6884. Pure autonomic failure
  6885. Pure hair and nail ectodermal dysplasia
  6886. Pure hereditary spastic paraplegia
  6887. Pure mitochondrial myopathy
  6888. Pure or complex autosomal dominant spastic paraplegia
  6889. Pure or complex autosomal recessive spastic paraplegia
  6890. Pure or complex hereditary spastic paraplegia
  6891. Pure or complex X-linked spastic paraplegia
  6892. Pure squamous carcinoma of the urothelial tract
  6893. Purine nucleoside phosphorylase deficiency
  6894. Pustular pyoderma gangrenosum
  6895. Pustulosis palmaris et plantaris
  6896. Pycnodysostosis
  6897. PYCR1-related De Barsy syndrome
  6898. Pyknoachondrogenesis
  6899. Pyle disease
  6900. Pyoderma gangrenosum
  6901. Pyogenic autoinflammatory syndrome
  6902. Pyogenic autoinflammatory syndrome of childhood
  6903. Pyomyositis
  6904. Pyramidal molars-abnormal upper lip syndrome
  6905. Pyruvate carboxylase deficiency
  6906. Pyruvate carboxylase deficiency, benign type
  6907. Pyruvate carboxylase deficiency, infantile type
  6908. Pyruvate carboxylase deficiency, severe neonatal type
  6909. Pyruvate dehydrogenase deficiency
  6910. Pyruvate dehydrogenase E1-alpha deficiency
  6911. Pyruvate dehydrogenase E1-beta deficiency
  6912. Pyruvate dehydrogenase E2 deficiency
  6913. Pyruvate dehydrogenase E3 deficiency
  6914. Pyruvate dehydrogenase E3-binding protein deficiency
  6915. Pyruvate dehydrogenase phosphatase deficiency
  6916. Pyruvate metabolism disorder
  6917. Q fever
  6918. Qazi-Markouizos syndrome
  6919. QRSL1-related combined oxidative phosphorylation defect
  6920. Quadricuspid aortic valve
  6921. Qualitative or quantitative defects of alpha-actin
  6922. Qualitative or quantitative defects of alpha-dystroglycan
  6923. Qualitative or quantitative defects of alpha-sarcoglycan
  6924. Qualitative or quantitative defects of alphaB-cristallin
  6925. Qualitative or quantitative defects of beta-sarcoglycan
  6926. Qualitative or quantitative defects of calpain
  6927. Qualitative or quantitative defects of caveolin-3
  6928. Qualitative or quantitative defects of collagen 6
  6929. Qualitative or quantitative defects of delta-sarcoglycan
  6930. Qualitative or quantitative defects of desmin
  6931. Qualitative or quantitative defects of dysferlin
  6932. Qualitative or quantitative defects of dystrophin
  6933. Qualitative or quantitative defects of emerin
  6934. Qualitative or quantitative defects of filamin C
  6935. Qualitative or quantitative defects of FKRP
  6936. Qualitative or quantitative defects of fukutin
  6937. Qualitative or quantitative defects of gamma-sarcoglycan
  6938. Qualitative or quantitative defects of integrin alpha-7
  6939. Qualitative or quantitative defects of myotubularin
  6940. Qualitative or quantitative defects of nebulin
  6941. Qualitative or quantitative defects of perlecan
  6942. Qualitative or quantitative defects of plectin
  6943. Qualitative or quantitative defects of protein SERCA1
  6944. Qualitative or quantitative defects of protein ZASP
  6945. Qualitative or quantitative defects of sarcoglycan
  6946. Qualitative or quantitative defects of selenoprotein N1
  6947. Qualitative or quantitative defects of telethonin
  6948. Qualitative or quantitative defects of titin
  6949. Qualitative or quantitative defects of TRIM32
  6950. Qualitative or quantitative defects of tropomyosin
  6951. Qualitative or quantitative defects of troponin
  6952. Quebec platelet disorder
  6953. Quinquaud folliculitis decalvans
  6954. Rabies
  6955. Rabson-Mendenhall syndrome
  6956. Radial deficiency-tibial hypoplasia syndrome
  6957. Radial ray hypoplasia-choanal atresia syndrome
  6958. Radiation myelitis
  6959. Radiation proctitis
  6960. Radiation-induced disorder
  6961. Radiation-induced plexopathy
  6962. Radiculomegaly of canine teeth- congenital cataract
  6963. Radio-renal syndrome
  6964. Radioulnar synostosis-microcephaly-scoliosis syndrome
  6965. Ramon syndrome
  6966. Ramos-Arroyo syndrome
  6967. Ramsay Hunt syndrome
  6968. RAPADILINO syndrome
  6969. Rapid-onset dystonia-parkinsonism
  6970. Rapidly involuting congenital hemangioma
  6971. Rapp-Hodgkin syndrome
  6972. Rare abdominal surgical disease
  6973. Rare acquired aplastic anemia
  6974. Rare acquired deficiency anemia
  6975. Rare acquired hemolytic anemia
  6976. Rare acquired premature ovarian failure
  6977. Rare adenocarcinoma of the breast
  6978. Rare adrenal disease
  6979. Rare adrenocortical nodular disease
  6980. Rare adult hypothyroidism
  6981. Rare allergic disease
  6982. Rare allergic respiratory disease
  6983. Rare andrological tumor
  6984. Rare anemia
  6985. Rare aplastic anemia
  6986. Rare ataxia
  6987. Rare atrial defect and interatrial communication
  6988. Rare autonomic nervous system disorder
  6989. Rare bacterial infectious disease
  6990. Rare benign breast tumor
  6991. Rare benign neoplastic choroidal disorder
  6992. Rare benign ovarian tumor
  6993. Rare biliary tract disease
  6994. Rare bone development disorder
  6995. Rare bone disease
  6996. Rare bone tumor
  6997. Rare breast malformation
  6998. Rare breast tumor
  6999. Rare bronchopulmonary and pleural cavity tumors
  7000. Rare cancer of cervix uteri
  7001. Rare cancer of corpus uteri
  7002. Rare capillary malformation
  7003. Rare capillary malformation with associated anomalies
  7004. Rare carcinoma of pancreas
  7005. Rare carcinoma of small intestine
  7006. Rare carcinoma of stomach
  7007. Rare cardiac disease
  7008. Rare cardiac rhythm disease
  7009. Rare cardiac tumor
  7010. Rare cardiomyopathy
  7011. Rare cause of hypertension
  7012. Rare central nervous system and retinal vascular disease
  7013. Rare central precocious puberty
  7014. Rare central precocious puberty in female
  7015. Rare cerebrovascular dementia
  7016. Rare choreic movement disorder
  7017. Rare choroidal disorder
  7018. Rare chromosomal anomaly
  7019. Rare circulatory system disease
  7020. Rare coagulation disorder
  7021. Rare combined vascular malformation
  7022. Rare congenital anomaly of ventricular septum
  7023. Rare congenital non-syndromic heart malformation
  7024. Rare conjunctivitis
  7025. Rare constitutional anemia
  7026. Rare constitutional aplastic anemia
  7027. Rare constitutional hemolytic anemia
  7028. Rare corneal disorder
  7029. Rare cutaneous lichen planus
  7030. Rare cutaneous lupus erythematosus
  7031. Rare deafness
  7032. Rare deficiency anemia
  7033. Rare dementia
  7034. Rare developmental defect during embryogenesis
  7035. Rare developmental defect with skin/mucosae involvement
  7036. Rare diabetes mellitus
  7037. Rare diabetes mellitus type 1
  7038. Rare diabetes mellitus type 2
  7039. Rare digestive tumor
  7040. Rare disease involving intestinal motility
  7041. Rare disease with autism
  7042. Rare disease with dentinogenesis imperfecta
  7043. Rare disease with glaucoma as a major feature
  7044. Rare disease with malignant hyperthermia
  7045. Rare disease with myoclonus as a major feature
  7046. Rare disease with odontological manifestation
  7047. Rare disease with Pierre Robin syndrome
  7048. Rare disorder due to inadequate sharing of the placenta
  7049. Rare disorder due to poisoning
  7050. Rare disorder due to toxic effects
  7051. Rare disorder involving multiple structures of the eye
  7052. Rare disorder of the anterior segment of the eye
  7053. Rare disorder of the lacrimal apparatus
  7054. Rare disorder of the ocular adnexa
  7055. Rare disorder of the posterior segment of the eye
  7056. Rare disorder of the pupil
  7057. Rare disorder of the visual organs
  7058. Rare disorder potentially indicated for bowel transplant
  7059. Rare disorder potentially indicated for heart transplant
  7060. Rare disorder potentially indicated for kidney transplant
  7061. Rare disorder potentially indicated for liver transplant
  7062. Rare disorder potentially indicated for lung transplant
  7063. Rare disorder potentially indicated for transplant
  7064. Rare disorder related to monochorionic twin pregnancy
  7065. Rare disorder with a moyamoya angiopathy
  7066. Rare disorder with corneal involvement as a major feature
  7067. Rare disorder with ectropion
  7068. Rare disorder with entropion
  7069. Rare disorder with hypergonadotropic hypogonadism
  7070. Rare disorder with hypertrichosis
  7071. Rare disorder with inflammatory bowel disease
  7072. Rare disorder with lens opacification
  7073. Rare disorder with obstructive azoospermia
  7074. Rare disorder with optic disc malformation
  7075. Rare disorder with pigmented sclera
  7076. Rare disorder with ptosis
  7077. Rare disorder with strabismus
  7078. Rare dyslipidemia
  7079. Rare dystonia
  7080. Rare endocrine disease
  7081. Rare endocrine growth disease
  7082. Rare epilepsy
  7083. Rare epithelial tumor of colon
  7084. Rare epithelial tumor of pancreas
  7085. Rare epithelial tumor of rectum
  7086. Rare epithelial tumor of small intestine
  7087. Rare epithelial tumor of stomach
  7088. Rare eye tumor
  7089. Rare eyebrow/eyelash disorder
  7090. Rare eyelid malposition disorder
  7091. Rare familial disorder with hypertrophic cardiomyopathy
  7092. Rare female infertility
  7093. Rare female infertility due to an adrenal disorder
  7094. Rare female infertility due to an implantation defect
  7095. Rare female infertility due to gonadal dysgenesis
  7096. Rare female infertility due to oocyte maturation defect
  7097. Rare form of salmonellosis
  7098. Rare gastroenterologic disease
  7099. Rare gastroesophageal disease
  7100. Rare gastroesophageal tumor
  7101. Rare generalized retinal disorder
  7102. Rare genetic adrenal disease
  7103. Rare genetic autonomic nervous system disorder
  7104. Rare genetic bone development disorder
  7105. Rare genetic bone disease
  7106. Rare genetic capillary malformation
  7107. Rare genetic cardiac disease
  7108. Rare genetic cause of hypertension
  7109. Rare genetic coagulation disorder
  7110. Rare genetic corneal disorder
  7111. Rare genetic deafness
  7112. Rare genetic developmental defect during embryogenesis
  7113. Rare genetic diabetes mellitus
  7114. Rare genetic disease
  7115. Rare genetic disease with myoclonus as a major feature
  7116. Rare genetic disorder of the anterior segment of the eye
  7117. Rare genetic disorder of the lacrimal apparatus
  7118. Rare genetic disorder of the ocular adnexa
  7119. Rare genetic disorder of the posterior segment of the eye
  7120. Rare genetic disorder of the pupil
  7121. Rare genetic disorder of the visual organs
  7122. Rare genetic disorder with entropion
  7123. Rare genetic disorder with lens opacification
  7124. Rare genetic disorder with obstructive azoospermia
  7125. Rare genetic disorder with strabismus
  7126. Rare genetic dystonia
  7127. Rare genetic endocrine disease
  7128. Rare genetic epilepsy
  7129. Rare genetic eye disease
  7130. Rare genetic eyelid malposition disorder
  7131. Rare genetic female infertility
  7132. Rare genetic gastroenterological disease
  7133. Rare genetic generalized retinal disorder
  7134. Rare genetic gynecological and obstetrical diseases
  7135. Rare genetic headache
  7136. Rare genetic hematologic disease
  7137. Rare genetic hepatic disease
  7138. Rare genetic hyperkinetic movement disorder
  7139. Rare genetic hypothalamic or pituitary disease
  7140. Rare genetic immune disease
  7141. Rare genetic inflammatory/autoimmune corneal disorder
  7142. Rare genetic intellectual disability
  7143. Rare genetic isolated progressive retinal vasculopathy
  7144. Rare genetic macular disorder
  7145. Rare genetic male infertility
  7146. Rare genetic medullar disease
  7147. Rare genetic movement disorder
  7148. Rare genetic myoclonus
  7149. Rare genetic neurological disorder
  7150. Rare genetic nevus
  7151. Rare genetic non-progressive retinal vasculopathy
  7152. Rare genetic ocular motility/alignment disorder
  7153. Rare genetic odontal or periodontal disorder
  7154. Rare genetic odontologic disease
  7155. Rare genetic optic nerve disorder
  7156. Rare genetic palpebral disorder
  7157. Rare genetic parkinsonian disorder
  7158. Rare genetic predominantly chorioretinal disorder
  7159. Rare genetic premature ovarian failure
  7160. Rare genetic progressive generalized retinal disorder
  7161. Rare genetic progressive predominantly macular disorder
  7162. Rare genetic progressive retinal vasculopathy
  7163. Rare genetic renal disease
  7164. Rare genetic respiratory disease
  7165. Rare genetic retinal disorder
  7166. Rare genetic retinal vasculopathy
  7167. Rare genetic skin disease
  7168. Rare genetic syndromic intellectual disability
  7169. Rare genetic systemic or rheumatologic disease
  7170. Rare genetic thyroid disease
  7171. Rare genetic tremor disorder
  7172. Rare genetic tumor
  7173. Rare genetic urogenital disease
  7174. Rare genetic vascular disease
  7175. Rare genetic vascular tumor
  7176. Rare genetic venous malformation
  7177. Rare gynecologic or obstetric disease
  7178. Rare gynecological tumor
  7179. Rare head and neck malformation
  7180. Rare head and neck tumor
  7181. Rare headache
  7182. Rare hematologic disease
  7183. Rare hemolytic anemia
  7184. Rare hemorrhagic disorder
  7185. Rare hemorrhagic disorder due to a platelet anomaly
  7186. Rare hepatic and biliary tract tumor
  7187. Rare hepatic disease
  7188. Rare hereditary autoinflammatory disease
  7189. Rare hereditary connective tissue disease
  7190. Rare hereditary disease with avascular necrosis
  7191. Rare hereditary disease with peripheral neuropathy
  7192. Rare hereditary hemochromatosis
  7193. Rare hereditary thrombophilia
  7194. Rare hypercholesterolemia
  7195. Rare hyperkinetic movement disorder
  7196. Rare hyperlipidemia
  7197. Rare hyperopia and astigmatism
  7198. Rare hyperparathyroidism
  7199. Rare hyperthyroidism
  7200. Rare hypertrophic cardiomyopathy
  7201. Rare hypoaldosteronism
  7202. Rare hypolipidemia
  7203. Rare hypoparathyroidism
  7204. Rare hypothalamic or pituitary disease
  7205. Rare hypothyroidism
  7206. Rare idiopathic macular telangiectasia
  7207. Rare immune disease
  7208. Rare immune disease with inflammatory bowel disease
  7209. Rare inborn errors of metabolism
  7210. Rare infantile hemangioma
  7211. Rare infectious disease
  7212. Rare infertility
  7213. Rare inflammatory bowel disease
  7214. Rare inflammatory choroidal disorder
  7215. Rare inflammatory/autoimmune corneal disorder
  7216. Rare insulin-resistance syndrome
  7217. Rare intellectual disability
  7218. Rare intestinal disease
  7219. Rare intoxication due to medical products
  7220. Rare isolated developmental choroidal disorder
  7221. Rare isolated myopia
  7222. Rare isolated progressive generalized retinal disorder
  7223. Rare isolated progressive predominantly macular disorder
  7224. Rare isolated progressive retinal vasculopathy
  7225. Rare isolated progressive vitreoretinopathy
  7226. Rare lens disease
  7227. Rare lichen planus
  7228. Rare macular disorder
  7229. Rare male infertility
  7230. Rare male infertility due to adrenal disorder
  7231. Rare malignant breast tumor
  7232. Rare malignant neoplastic choroidal disorder
  7233. Rare maxillo-facial surgical disease
  7234. Rare metabolic liver disease
  7235. Rare mitochondrial non-syndromic sensorineural deafness
  7236. Rare movement disorder
  7237. Rare mucosal lichen planus
  7238. Rare mycosis
  7239. Rare myoclonus
  7240. Rare nail tumor
  7241. Rare neoplastic choroidal disorder
  7242. Rare neoplastic disease
  7243. Rare nervous system tumor
  7244. Rare neurodegenerative disease
  7245. Rare neuroinflammatory or neuroimmunological disease
  7246. Rare neurologic disease
  7247. Rare neurologic disease with psychiatric involvement
  7248. Rare nevus
  7249. Rare non-acquired premature ovarian failure
  7250. Rare non-malformative breast disease
  7251. Rare non-malformative gynecologic or obstetric disease
  7252. Rare non-malformative uterine adnexal disease
  7253. Rare non-progressive generalized retinal disorder
  7254. Rare non-progressive predominantly chorioretinal disorder
  7255. Rare non-progressive predominantly macular disorder
  7256. Rare non-progressive retinal vasculopathy
  7257. Rare non-progressive vitreoretinopathy
  7258. Rare non-syndromic genetic deafness
  7259. Rare non-syndromic inflammatory bowel disease
  7260. Rare non-syndromic intellectual disability
  7261. Rare ocular motility/alignment disorder
  7262. Rare oculomotor nerve disorder
  7263. Rare odontal or periodontal disorder
  7264. Rare odontogenic tumor
  7265. Rare odontologic disease
  7266. Rare ophthalmic disorder
  7267. Rare ophthalmic disorder with cortical involvement
  7268. Rare ophthalmic disorder with cranial nerve involvement
  7269. Rare optic nerve disorder
  7270. Rare otorhinolaryngologic disease
  7271. Rare otorhinolaryngologic tumor
  7272. Rare otorhinolaryngological malformation
  7273. Rare ovarian cancer
  7274. Rare palpebral disorder
  7275. Rare pancreatic disease
  7276. Rare paraneoplastic choroidal disorder
  7277. Rare parasitic disease
  7278. Rare parathyroid tumor
  7279. Rare parenchymal liver disease
  7280. Rare parkinsonian disorder
  7281. Rare parkinsonian syndrome due to intoxication
  7282. Rare paroxysmal movement disorder
  7283. Rare pediatric rheumatologic disease
  7284. Rare pediatric systemic disease
  7285. Rare pediatric vasculitis
  7286. Rare peripheral neuropathy
  7287. Rare peripheral precocious puberty
  7288. Rare peripheral precocious puberty in female
  7289. Rare pervasive developmental disorder
  7290. Rare photodermatosis
  7291. Rare precocious puberty
  7292. Rare precocious puberty in female
  7293. Rare predominantly chorioretinal disorder
  7294. Rare primary hyperaldosteronism
  7295. Rare progressive generalized retinal disorder
  7296. Rare progressive predominantly chorioretinal disorder
  7297. Rare progressive predominantly macular disorder
  7298. Rare progressive retinal vasculopathy
  7299. Rare progressive vitreoretinopathy
  7300. Rare pulmonary disease
  7301. Rare pulmonary hypertension
  7302. Rare refraction anomaly
  7303. Rare renal disease
  7304. Rare renal tubular disease
  7305. Rare renal tumor
  7306. Rare respiratory disease
  7307. Rare respiratory tumor
  7308. Rare retinal disorder
  7309. Rare retinal vasculopathy
  7310. Rare rheumatologic disease
  7311. Rare scleral disorder
  7312. Rare scleritis
  7313. Rare skin disease
  7314. Rare skin disease with inflammatory bowel disease
  7315. Rare skin tumor or hamartoma
  7316. Rare sleep disorder
  7317. Rare soft tissue tumor
  7318. Rare surgical cardiac disease
  7319. Rare surgical thoracic disease
  7320. Rare surgically correctable form of primary aldosteronism
  7321. Rare syndrome with cardiac malformations
  7322. Rare syndromic dyslipidemia
  7323. Rare syndromic genetic deafness
  7324. Rare syndromic intellectual disability
  7325. Rare systemic disease
  7326. Rare systemic or rheumatologic disease
  7327. Rare systemic or rheumatological disease of childhood
  7328. Rare teratologic disease
  7329. Rare thrombotic disease of hematologic origin
  7330. Rare thrombotic disorder due to a platelet anomaly
  7331. Rare thyroid carcinoma
  7332. Rare thyroid disease
  7333. Rare thyroid tumor
  7334. Rare tremor disorder
  7335. Rare trochlear nerve disorder
  7336. Rare tumor
  7337. Rare tumor of gallbladder and extrahepatic biliary tract
  7338. Rare tumor of intestine
  7339. Rare tumor of liver and intrahepatic biliary tract
  7340. Rare tumor of neuroepithelial tissue
  7341. Rare tumor of pancreas
  7342. Rare tumor of salivary glands
  7343. Rare tumor of small intestine
  7344. Rare urinary tract tumor
  7345. Rare urogenital disease
  7346. Rare urogenital tumor
  7347. Rare urticaria
  7348. Rare uterine adnexal tumor
  7349. Rare uterine cancer
  7350. Rare vaginal malformation
  7351. Rare vascular anomaly
  7352. Rare vascular choroidal disorder
  7353. Rare vascular disease
  7354. Rare vascular liver disease
  7355. Rare vascular malformation of major vessels
  7356. Rare vascular tumor
  7357. Rare viral disease
  7358. Rare virus associated tumor
  7359. Rare vulvovaginal tumor
  7360. Rare yersiniosis
  7361. RAS-associated autoimmune leukoproliferative disease
  7362. Rasmussen subacute encephalitis
  7363. RASopathy
  7364. Rat-bite fever
  7365. Rauch-Steindl syndrome
  7366. Ravine syndrome
  7367. Raynaud’s
  7368. Reactive angioendotheliomatosis
  7369. Reactive arthritis
  7370. Reactive hypoglycemia
  7371. Recessive dystrophic epidermolysis bullosa inversa
  7372. Recessive KLHL7-related disorder
  7373. Recessive mitochondrial ataxia syndrome
  7374. Recessive X-linked ichthyosis
  7375. Recombinant 8 syndrome
  7376. Recurrent idiopathic neuroretinitis
  7377. Recurrent infections due to specific granule deficiency
  7378. Recurrent Neisseria infections due to factor D deficiency
  7379. Recurrent respiratory papillomatosis
  7380. Recurrent UTIs
  7381. Reducing body myopathy
  7382. Reflex epilepsy
  7383. Refractory anemia with excess blasts in transformation
  7384. Refractory celiac disease
  7385. Refractory cytopenia with multilineage dysplasia
  7386. Regional odontodysplasia
  7387. Regional variant of Guillain-Barre syndrome
  7388. Regressive spondylometaphyseal dysplasia
  7389. Reis-Bucklers corneal dystrophy
  7390. RELA fusion-positive ependymoma
  7391. Relapsing epidemic typhus
  7392. Relapsing fever
  7393. Relapsing isolated optic neuritis
  7394. Relapsing polychondritis
  7395. Renal agenesis
  7396. Renal agenesis, bilateral
  7397. Renal agenesis, unilateral
  7398. Renal arteriovenous malformation
  7399. Renal caliceal diverticuli-deafness syndrome
  7400. Renal cell carcinoma
  7401. Renal ciliopathy
  7402. Renal coloboma syndrome
  7403. Renal disease with cataract
  7404. Renal dysplasia
  7405. Renal dysplasia, bilateral
  7406. Renal dysplasia, unilateral
  7407. Renal dysplasia-megalocystis-sirenomelia syndrome
  7408. Renal hypoplasia
  7409. Renal hypoplasia, bilateral
  7410. Renal hypoplasia, unilateral
  7411. Renal medullary carcinoma
  7412. Renal nutcracker syndrome
  7413. Renal or urinary tract malformation
  7414. Renal pseudohypoaldosteronism type 1
  7415. Renal tubular dysgenesis
  7416. Renal tubular dysgenesis due to twin-twin transfusion
  7417. Renal tubular dysgenesis of genetic origin
  7418. Renal tubulopathy-encephalopathy-liver failure syndrome
  7419. Renal-genital-middle ear anomalies
  7420. Renal-hepatic-pancreatic dysplasia
  7421. Renpenning syndrome
  7422. RERE-related neurodevelopmental syndrome
  7423. Resistance to thyrotropin-releasing hormone syndrome
  7424. Respiratory malformation
  7425. Respiratory or mediastinal malformation
  7426. Respiratory or thoracic malformation
  7427. Restless legs syndrome
  7428. Restrictive cardiomyopathy
  7429. Restrictive dermopathy
  7430. Retained medullary cord
  7431. Reticular dysgenesis
  7432. Reticular dystrophy of the retinal pigment epithelium
  7433. Reticular perineurioma
  7434. Reticulate acropigmentation of Kitamura
  7435. Reticulated capillary malformation
  7436. Retiform hemangioendothelioma
  7437. Retinal capillary malformation
  7438. Retinal ciliopathy
  7439. Retinal ciliopathy due to mutation in Bardet-Biedl gene
  7440. Retinal ciliopathy due to mutation in the RPGR gene
  7441. Retinal ciliopathy due to mutation in the RPGRIP gene
  7442. Retinal ciliopathy due to mutation in Usher gene
  7443. Retinal degeneration-nanophthalmos-glaucoma syndrome
  7444. Retinal macular dystrophy type 2
  7445. Retinitis pigmentosa
  7446. Retinitis punctata albescens
  7447. Retinoblastoma
  7448. Retinohepatoendocrinologic syndrome
  7449. Retinopathy of prematurity
  7450. Retroperitoneal arteriovenous malformation
  7451. Rett syndrome
  7452. Reunion Island Larsen-like syndrome
  7453. Reversible cerebral vasoconstriction syndrome
  7454. Revesz syndrome
  7455. Reye syndrome
  7456. Reynolds syndrome
  7457. RFT1-CDG
  7458. RFVT2-related riboflavin transporter deficiency
  7459. RFVT3-related riboflavin transporter deficiency
  7460. Rh deficiency syndrome
  7461. Rhabdoid tumor
  7462. Rhabdoid tumor predisposition syndrome
  7463. Rhabdomyosarcoma
  7464. Rhabdomyosarcoma of the cervix uteri
  7465. Rhabdomyosarcoma of the corpus uteri
  7466. Rheumatic fever
  7467. Rheumatoid arthritis
  7468. Rhizomelic chondrodysplasia punctata
  7469. Rhizomelic chondrodysplasia punctata type 1
  7470. Rhizomelic chondrodysplasia punctata type 2
  7471. Rhizomelic chondrodysplasia punctata type 3
  7472. Rhizomelic chondrodysplasia punctata type 5
  7473. Rhizomelic dysplasia, Patterson-Lowry type
  7474. Rhizomelic syndrome, Urbach type
  7475. Rhombencephalosynapsis
  7476. RHYNS syndrome
  7477. Riboflavin transporter deficiency
  7478. Ribose-5-P isomerase deficiency
  7479. Richards-Rundle syndrome
  7480. Richieri Costa-da Silva syndrome
  7481. Richieri Costa-Pereira syndrome
  7482. Ricin poisoning
  7483. Rickettsial disease
  7484. Rickettsialpox
  7485. RIDDLE syndrome
  7486. Rieger anomaly
  7487. Rift valley fever
  7488. Right aortic arch
  7489. Right inferior vena cava connecting to left-sided atrium
  7490. Right isomerism
  7491. Right superior vena cava connecting to left-sided atrium
  7492. Rigid spine syndrome
  7493. RIN2 syndrome
  7494. Ring chromosome 1 syndrome
  7495. Ring chromosome 10 syndrome
  7496. Ring chromosome 11 syndrome
  7497. Ring chromosome 12 syndrome
  7498. Ring chromosome 13 syndrome
  7499. Ring chromosome 14 syndrome
  7500. Ring chromosome 15 syndrome
  7501. Ring chromosome 16 syndrome
  7502. Ring chromosome 17 syndrome
  7503. Ring chromosome 18 syndrome
  7504. Ring chromosome 19 syndrome
  7505. Ring chromosome 2 syndrome
  7506. Ring chromosome 20 syndrome
  7507. Ring chromosome 21 syndrome
  7508. Ring chromosome 22 syndrome
  7509. Ring chromosome 3 syndrome
  7510. Ring chromosome 4 syndrome
  7511. Ring chromosome 5 syndrome
  7512. Ring chromosome 6 syndrome
  7513. Ring chromosome 7 syndrome
  7514. Ring chromosome 8 syndrome
  7515. Ring chromosome 9 syndrome
  7516. Ring chromosome syndrome
  7517. Ring chromosome Y syndrome
  7518. Ring dermoid of cornea
  7519. Ringed hair disease
  7520. Rippling muscle disease
  7521. Rippling muscle disease with myasthenia gravis
  7522. RNASEH2B-related hereditary spastic paraplegia
  7523. RNF13-related severe early-onset epileptic encephalopathy
  7524. Roberts syndrome
  7525. Robin sequence-oligodactyly syndrome
  7526. Robinow syndrome
  7527. Robinow-like syndrome
  7528. Robinow-Sorauf syndrome
  7529. Roch-Leri mesosomatous lipomatosis
  7530. Rocky Mountain spotted fever
  7531. Roifman syndrome
  7532. Rolandic epilepsy-speech dyspraxia syndrome
  7533. Romano-Ward syndrome
  7534. Rombo syndrome
  7535. Rosacea
  7536. Rosai-Dorfman disease
  7537. Rosette-forming glioneuronal tumor
  7538. Rothmund-Thomson syndrome
  7539. Rothmund-Thomson syndrome type 1
  7540. Rothmund-Thomson syndrome type 2
  7541. Rothmund-Thomson syndrome type 3
  7542. Rothmund-Thomson syndrome type 4
  7543. Rotor syndrome
  7544. Roussy-Levy syndrome
  7545. Rowell syndrome
  7546. Rubella panencephalitis
  7547. Rubinstein-Taybi syndrome
  7548. Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
  7549. Rubinstein-Taybi syndrome due to CREBBP mutations
  7550. Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  7551. Rudiger syndrome
  7552. Ruvalcaba syndrome
  7553. S-adenosylhomocysteine hydrolase deficiency
  7554. Saccharopinuria
  7555. Saccular limited dorsal myeloschisis
  7556. Saccular spinal dysraphism with a stalk to the dome
  7557. Sacrococcygeal dysgenesis association
  7558. Sacrococcygeal teratoma
  7559. Saethre-Chotzen syndrome
  7560. Sagliker syndrome
  7561. Saldino-Mainzer syndrome
  7562. Salivary gland type cancer of the breast
  7563. Salla disease
  7564. Salt-and-pepper syndrome
  7565. SAMD9L-associated autoinflammatory syndrome
  7566. Sandhoff disease
  7567. Sandhoff disease, adult form
  7568. Sandhoff disease, infantile form
  7569. Sandhoff disease, juvenile form
  7570. Sandifer syndrome
  7571. Sanfilippo syndrome type A
  7572. Sanfilippo syndrome type B
  7573. Sanfilippo syndrome type C
  7574. Sanfilippo syndrome type D
  7575. Sanjad-Sakati syndrome
  7576. SAPHO syndrome
  7577. Sarcocystosis
  7578. Sarcoidosis
  7579. Sarcoma of cervix uteri
  7580. Sarcoma of the corpus uteri
  7581. Sarcosinemia
  7582. SATB2-associated syndrome
  7583. SATB2-associated syndrome due to a pathogenic variant
  7584. Satoyoshi syndrome
  7585. Say-Barber-Miller syndrome
  7586. Scalp defects-postaxial polydactyly syndrome
  7587. SCALP syndrome
  7588. Scalp-ear-nipple syndrome
  7589. Scapuloperoneal spinal muscular atrophy
  7590. SCARF syndrome
  7591. Scarlet fever
  7592. Scarring in glaucoma filtration surgical procedures
  7593. Scedosporiosis
  7594. Schaaf-Yang syndrome
  7595. Scheie syndrome
  7596. Schilbach-Rott syndrome
  7597. Schilder disease
  7598. Schimke immuno-osseous dysplasia
  7599. Schinzel-Giedion syndrome
  7600. Schisis association
  7601. Schistosomiasis
  7602. Schizencephaly
  7603. Schizophrenia
  7604. Schneckenbecken dysplasia
  7605. Schnitzler syndrome
  7606. Schnyder corneal dystrophy
  7607. Schopf-Schulz-Passarge syndrome
  7608. Schuurs-Hoeijmakers syndrome
  7609. Schwartz-Jampel syndrome
  7610. Scimitar syndrome
  7611. Scleredema
  7612. Scleroderma
  7613. Scleromyxedema
  7614. Scleromyxedema without monoclonal gammopathy
  7615. Sclerosing cholangitis
  7616. Sclerosing perineurioma
  7617. Sclerosteosis
  7618. Scoliosis
  7619. Scorpion envenomation
  7620. Scott syndrome
  7621. Scrub typhus
  7622. Seasonal affective disorder
  7623. Sebaceous gland anomaly
  7624. Sebastian syndrome
  7625. Sebocystomatosis
  7626. Seborrhea-like dermatitis with psoriasiform elements
  7627. Seckel syndrome
  7628. Second branchial cleft anomaly
  7629. Secondary avascular necrosis
  7630. Secondary central precocious puberty in female
  7631. Secondary central precocious puberty in male
  7632. Secondary early-onset glaucoma
  7633. Secondary early-onset glaucoma of genetic origin
  7634. Secondary ectropion
  7635. Secondary erythromelalgia
  7636. Secondary hemophagocytic lymphohistiocytosis
  7637. Secondary hypereosinophilic syndrome
  7638. Secondary intestinal lymphangiectasia
  7639. Secondary neonatal autoimmune disease
  7640. Secondary non-traumatic avascular necrosis
  7641. Secondary polyarteritis nodosa
  7642. Secondary polycythemia
  7643. Secondary pulmonary alveolar proteinosis
  7644. Secondary pulmonary hemosiderosis
  7645. Secondary sclerosing cholangitis
  7646. Secondary short bowel syndrome
  7647. Secondary syringomyelia
  7648. Secondary vasculitis
  7649. Segmental arterial mediolysis
  7650. Segmental odontomaxillary dysplasia
  7651. Segmental spinal dysgenesis
  7652. Segmental venous malformation
  7653. Seizures-scoliosis-macrocephaly syndrome
  7654. Selective IgM deficiency
  7655. Selective intrauterine growth restriction
  7656. Self-healing papular mucinosis
  7657. Self-improving collodion baby
  7658. Self-improving dystrophic epidermolysis bullosa
  7659. Self-limited childhood occipital epilepsy
  7660. Self-limited epilepsy with autonomic seizures
  7661. Self-limited epilepsy with centrotemporal spikes
  7662. Self-limited infantile epilepsy
  7663. Self-limited neonatal epilepsy
  7664. Self-limited neonatal-infantile epilepsy
  7665. Semantic dementia
  7666. Semicircular canal dehiscence syndrome
  7667. Semilobar holoprosencephaly
  7668. Senior-Boichis syndrome
  7669. Senior-Loken syndrome
  7670. Sensorineural deafness with dilated cardiomyopathy
  7671. Sepsis in premature infants
  7672. Septate uterus
  7673. Septate vagina
  7674. Septo-optic dysplasia spectrum
  7675. Septopreoptic holoprosencephaly
  7676. SERKAL syndrome
  7677. Seromucinous cystadenoma of childhood
  7678. Seronegative autoimmune hepatitis
  7679. Serotonin syndrome
  7680. Serotonin-producing neuroendocrine tumor of pancreas
  7681. Serous carcinoma of the corpus uteri
  7682. Serous cystadenocarcinoma of pancreas
  7683. Serous cystadenoma of childhood
  7684. Serpentine fibula-polycystic kidneys syndrome
  7685. Serpiginous choroiditis
  7686. Serpinopathy
  7687. Serpinopathy with loss of serpin function
  7688. Serpinopathy with toxic serpin polymerization
  7689. Serrated polyposis syndrome
  7690. Severe acute respiratory syndrome
  7691. Severe autosomal recessive macrothrombocytopenia
  7692. Severe Canavan disease
  7693. Severe combined immunodeficiency
  7694. Severe combined immunodeficiency due to CORO1A deficiency
  7695. Severe combined immunodeficiency due to CTPS1 deficiency
  7696. Severe combined immunodeficiency due to DCLRE1C deficiency
  7697. Severe combined immunodeficiency due to FOXN1 deficiency
  7698. Severe combined immunodeficiency due to LAT deficiency
  7699. Severe congenital nemaline myopathy
  7700. Severe congenital neutropenia
  7701. Severe congenital neutropenia due to G6PC3 deficiency
  7702. Severe congenital neutropenia due to JAGN1 deficiency
  7703. Severe dilated cardiomyopathy due to lamin A/C mutation
  7704. Severe early-childhood-onset retinal dystrophy
  7705. Severe generalized junctional epidermolysis bullosa
  7706. Severe hemophilia A
  7707. Severe hemophilia B
  7708. Severe immune-mediated enteropathy
  7709. Severe oculo-renal-cerebellar syndrome
  7710. Severe primary trimethylaminuria
  7711. Severe X-linked intellectual disability, Gustavson type
  7712. Severe X-linked mitochondrial encephalomyopathy
  7713. Sex chromosome difference of sex development
  7714. Sex cord-stromal tumor of testis
  7715. Sex-chromosome anomaly syndrome
  7716. Sex-chromosome number anomaly syndrome
  7717. Sex-chromosome structural anomaly syndrome
  7718. Sezary syndrome
  7719. Shashi-Pena syndrome
  7720. Sheehan syndrome
  7721. Sheldon-Hall syndrome
  7722. Shiga toxin-associated hemolytic uremic syndrome
  7723. Shigellosis
  7724. Shone complex
  7725. Short bowel syndrome
  7726. Short chain acyl-CoA dehydrogenase deficiency
  7727. Short fifth metacarpals-insulin resistance syndrome
  7728. Short rib-polydactyly syndrome
  7729. Short rib-polydactyly syndrome type 5
  7730. Short rib-polydactyly syndrome, Beemer-Langer type
  7731. Short rib-polydactyly syndrome, Majewski type
  7732. Short rib-polydactyly syndrome, Saldino-Noonan type
  7733. Short rib-polydactyly syndrome, Verma-Naumoff type
  7734. Short stature due to GHSR deficiency
  7735. Short stature due to growth hormone qualitative anomaly
  7736. Short stature due to partial GHR deficiency
  7737. Short stature, Brussels type
  7738. Short stature-optic atrophy-Pelger-Huet anomaly syndrome
  7739. Short stature-webbed neck-heart disease syndrome
  7740. Short stature-wormian bones-dextrocardia syndrome
  7741. SHORT syndrome
  7742. Short tarsus-absence of lower eyelashes syndrome
  7743. SHOX-related short stature
  7744. Shprintzen-Goldberg syndrome
  7745. Shwachman-Diamond syndrome
  7746. Sialidosis
  7747. Sialidosis type 1
  7748. Sialidosis type 2
  7749. Sialuria
  7750. SIBIDS syndrome
  7751. SIBO
  7752. Sickle cell anemia
  7753. Sickle cell disease
  7754. Sickle cell S-C disease
  7755. Sickle cell S-D Punjab disease
  7756. Sickle cell S-E disease
  7757. Sickle cell S-Lepore disease
  7758. Sickle cell S-O Arab disease
  7759. Sickle cell S-other specified hemoglobin variant
  7760. Sickle cell-beta plus-thalassemia
  7761. Sickle cell-beta zero-thalassemia
  7762. Sickle cell-beta-thalassemia disease
  7763. Sideroblastic anemia
  7764. Siegler-Brewer-Carey syndrome
  7765. Silent pituitary adenoma
  7766. Silent sinus syndrome
  7767. Sillence syndrome
  7768. Silver-Russell syndrome
  7769. Silver-Russell syndrome due to 11p15 microduplication
  7770. Silver-Russell syndrome due to 7p11.2p13 microduplication
  7771. Silver-Russell syndrome due to a point mutation
  7772. SIM1-related Prader-Willi-like syndrome
  7773. Simple cryoglobulinemia
  7774. Simple vascular malformation
  7775. Simpson-Golabi-Behmel syndrome
  7776. Simpson-Golabi-Behmel syndrome type 2
  7777. Sinding-Larsen-Johansson disease
  7778. Single isolated optic neuritis
  7779. Single-organ polyarteritis nodosa
  7780. Single-system multifocal Langerhans cell histiocytosis
  7781. Singleton-Merten dysplasia
  7782. Sinoatrial node dysfunction and deafness
  7783. Sinus pericranii
  7784. Sirenomelia
  7785. Sitosterolemia
  7786. Situs ambiguus
  7787. Situs inversus totalis
  7788. SIX2-related frontonasal dysplasia
  7789. Sjogren-Larsson syndrome
  7790. Sjögren’s disease
  7791. Skeletal dysplasia-epilepsy-short stature syndrome
  7792. Skeletal Ewing sarcoma
  7793. Skeletal muscle disease
  7794. Skin vascular disease
  7795. SLC35A1-CDG
  7796. SLC35A2-CDG
  7797. SLC39A8-CDG
  7798. SLC40A1-related hemochromatosis
  7799. Sleep apnea
  7800. Sleep-related hypermotor epilepsy
  7801. Slender bone dysplasia
  7802. Slow-channel congenital myasthenic syndrome
  7803. Slow-flow malformation, lymphatic type
  7804. Slow-flow malformation, venous type
  7805. Small bowel atresia
  7806. Small cell carcinoma of the bladder
  7807. Small cell carcinoma of the ovary
  7808. Small cell lung cancer
  7809. Small fiber neuropathy
  7810. Small omphalocele
  7811. SMARCA4-deficient sarcoma of thorax
  7812. Smith-Fineman-Myers syndrome
  7813. Smith-Lemli-Opitz syndrome
  7814. Smith-Magenis syndrome
  7815. Smith-McCort dysplasia
  7816. Smoldering systemic mastocytosis
  7817. SMPX-related distal myopathy
  7818. Snakebite envenomation
  7819. Sneddon syndrome
  7820. Snowflake vitreoretinal degeneration
  7821. Social anxiety
  7822. Sodium-dependent multivitamin transporter deficiency
  7823. Soft and hard cleft palate
  7824. Soft tissue sarcoma
  7825. Solar urticaria
  7826. Solitary bone cyst
  7827. Solitary fibrous tumor
  7828. Solitary necrotic nodule of the liver
  7829. Solitary rectal ulcer syndrome
  7830. Somatomammotropinoma
  7831. Somatostatinoma
  7832. Somatotropic adenoma
  7833. Sorsby fundus dystrophy
  7834. Sotos syndrome
  7835. Southeast Asian ovalocytosis
  7836. Spasmus nutans
  7837. Spastic ataxia
  7838. Spastic ataxia with congenital miosis
  7839. Spastic ataxia-corneal dystrophy syndrome
  7840. Spastic ataxia-dysarthria due to glutaminase deficiency
  7841. Spastic paraparesis-cataracts-speech delay syndrome
  7842. Spastic paraparesis-deafness syndrome
  7843. Spastic paraplegia type 2
  7844. Spastic paraplegia type 7
  7845. Spastic paraplegia-facial-cutaneous lesions syndrome
  7846. Spastic paraplegia-nephritis-deafness syndrome
  7847. Spastic paraplegia-neuropathy-poikiloderma syndrome
  7848. Spastic paraplegia-optic atrophy-neuropathy syndrome
  7849. Spastic paraplegia-Paget disease of bone syndrome
  7850. Spastic paraplegia-precocious puberty syndrome
  7851. SPECC1L-related hypertelorism syndrome
  7852. Specific language disorder
  7853. Specific learning disability
  7854. Spectrin-associated autosomal recessive cerebellar ataxia
  7855. Spermatocytic seminoma
  7856. Spheroid body myopathy
  7857. Sphingolipidosis
  7858. Sphingolipidosis with epilepsy
  7859. Spigelian hernia-cryptorchidism syndrome
  7860. Spina bifida and other spinal dysraphisms
  7861. Spina bifida-hypospadias syndrome
  7862. Spinal arteriovenous metameric syndrome
  7863. Spinal atrophy-ophthalmoplegia-pyramidal syndrome
  7864. Spinal cord arteriovenous malformation
  7865. Spinal cord injury
  7866. Spinal cord lipoma
  7867. Spinal dermal sinus
  7868. Spinal dysraphism with a posterior meningocele
  7869. Spinal epidural arteriovenous malformation
  7870. Spinal fast-flow vascular malformation
  7871. Spinal muscular atrophy
  7872. Spinal muscular atrophy with respiratory distress type 1
  7873. Spinal muscular atrophy with respiratory distress type 2
  7874. Spinal pial arteriovenous fistula
  7875. Spinal stenosis
  7876. Spindle cell hemangioma
  7877. Spinocerebellar ataxia type 1
  7878. Spinocerebellar ataxia type 10
  7879. Spinocerebellar ataxia type 11
  7880. Spinocerebellar ataxia type 12
  7881. Spinocerebellar ataxia type 13
  7882. Spinocerebellar ataxia type 14
  7883. Spinocerebellar ataxia type 15/16
  7884. Spinocerebellar ataxia type 16
  7885. Spinocerebellar ataxia type 17
  7886. Spinocerebellar ataxia type 18
  7887. Spinocerebellar ataxia type 19/22
  7888. Spinocerebellar ataxia type 2
  7889. Spinocerebellar ataxia type 20
  7890. Spinocerebellar ataxia type 21
  7891. Spinocerebellar ataxia type 22
  7892. Spinocerebellar ataxia type 23
  7893. Spinocerebellar ataxia type 25
  7894. Spinocerebellar ataxia type 26
  7895. Spinocerebellar ataxia type 27A
  7896. Spinocerebellar ataxia type 27B
  7897. Spinocerebellar ataxia type 28
  7898. Spinocerebellar ataxia type 29
  7899. Spinocerebellar ataxia type 3
  7900. Spinocerebellar ataxia type 30
  7901. Spinocerebellar ataxia type 31
  7902. Spinocerebellar ataxia type 32
  7903. Spinocerebellar ataxia type 34
  7904. Spinocerebellar ataxia type 35
  7905. Spinocerebellar ataxia type 36
  7906. Spinocerebellar ataxia type 37
  7907. Spinocerebellar ataxia type 38
  7908. Spinocerebellar ataxia type 4
  7909. Spinocerebellar ataxia type 40
  7910. Spinocerebellar ataxia type 41
  7911. Spinocerebellar ataxia type 42
  7912. Spinocerebellar ataxia type 43
  7913. Spinocerebellar ataxia type 44
  7914. Spinocerebellar ataxia type 45
  7915. Spinocerebellar ataxia type 46
  7916. Spinocerebellar ataxia type 48
  7917. Spinocerebellar ataxia type 49
  7918. Spinocerebellar ataxia type 5
  7919. Spinocerebellar ataxia type 6
  7920. Spinocerebellar ataxia type 7
  7921. Spinocerebellar ataxia type 8
  7922. Spinocerebellar ataxia with axonal neuropathy type 1
  7923. Spinocerebellar ataxia with axonal neuropathy type 2
  7924. Spinocerebellar ataxia with epilepsy
  7925. Spinocerebellar ataxia-dysmorphism syndrome
  7926. Spinocerebellar degeneration-corneal dystrophy syndrome
  7927. Spirillary rat-bite fever
  7928. Splenic arteriovenous malformation
  7929. Splenic diffuse red pulp small B-cell lymphoma
  7930. Splenic marginal zone lymphoma
  7931. Splenic venous malformation
  7932. Splenogonadal fusion-limb defects-micrognathia syndrome
  7933. Split cord malformation
  7934. Split cord malformation type I
  7935. Split cord malformation type II
  7936. Split cord malformation, composite type
  7937. Split hand-split foot-deafness syndrome
  7938. Split-foot malformation-mesoaxial polydactyly syndrome
  7939. SPONASTRIME dysplasia
  7940. Spondylo-megaepiphyseal-metaphyseal dysplasia
  7941. Spondylo-ocular syndrome
  7942. Spondylocamptodactyly syndrome
  7943. Spondylocarpotarsal synostosis
  7944. Spondylodysplastic dysplasia
  7945. Spondylodysplastic Ehlers-Danlos syndrome
  7946. Spondyloenchondrodysplasia
  7947. Spondyloepimetaphyseal dysplasia congenita, Strudwick type
  7948. Spondyloepimetaphyseal dysplasia, aggrecan type
  7949. Spondyloepimetaphyseal dysplasia, Bieganski type
  7950. Spondyloepimetaphyseal dysplasia, Genevieve type
  7951. Spondyloepimetaphyseal dysplasia, Handigodu type
  7952. Spondyloepimetaphyseal dysplasia, Irapa type
  7953. Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
  7954. Spondyloepimetaphyseal dysplasia, Maroteaux type
  7955. Spondyloepimetaphyseal dysplasia, matrilin-3 type
  7956. Spondyloepimetaphyseal dysplasia, Missouri type
  7957. Spondyloepimetaphyseal dysplasia, PAPSS2 type
  7958. Spondyloepimetaphyseal dysplasia, Shohat type
  7959. Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
  7960. Spondyloepiphyseal dysplasia congenita
  7961. Spondyloepiphyseal dysplasia tarda
  7962. Spondyloepiphyseal dysplasia tarda, Kohn type
  7963. Spondyloepiphyseal dysplasia with metatarsal shortening
  7964. Spondyloepiphyseal dysplasia, Byers type
  7965. Spondyloepiphyseal dysplasia, Kimberley type
  7966. Spondyloepiphyseal dysplasia, MacDermot type
  7967. Spondyloepiphyseal dysplasia, Omani type
  7968. Spondyloepiphyseal dysplasia, Reardon type
  7969. Spondyloepiphyseal dysplasia, Stanescu type
  7970. Spondylometaphyseal dysplasia
  7971. Spondylometaphyseal dysplasia, 'corner fracture' type
  7972. Spondylometaphyseal dysplasia, A4 type
  7973. Spondylometaphyseal dysplasia, Czarny-Ratajczak type
  7974. Spondylometaphyseal dysplasia, Golden type
  7975. Spondylometaphyseal dysplasia, Kozlowski type
  7976. Spondylometaphyseal dysplasia, Schmidt type
  7977. Spondylometaphyseal dysplasia, Sedaghatian type
  7978. Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
  7979. Spondylometaphyseal dysplasia-corneal dystrophy syndrome
  7980. Spondyloperipheral dysplasia-short ulna syndrome
  7981. Spontaneous heparin-induced thrombocytopenia
  7982. Spontaneous intestinal perforation
  7983. Spontaneous intracranial hypotension
  7984. Spontaneous periodic hypothermia
  7985. Sporadic adult-onset ataxia of unknown etiology
  7986. Sporadic Creutzfeldt-Jakob disease
  7987. Sporadic fatal insomnia
  7988. Sporadic fetal brain disruption sequence
  7989. Sporadic human prion disease
  7990. Sporadic hyperekplexia
  7991. Sporadic idiopathic steroid-resistant nephrotic syndrome
  7992. Sporadic infantile bilateral striatal necrosis
  7993. Sporadic pheochromocytoma/secreting paraganglioma
  7994. Sporadic porphyria cutanea tarda
  7995. Sporotrichosis
  7996. Spotted fever rickettsiosis
  7997. Sprengel deformity
  7998. Squamous cell carcinoma of head and neck
  7999. Squamous cell carcinoma of oral cavity and lip
  8000. Squamous cell carcinoma of pancreas
  8001. Squamous cell carcinoma of the anal canal
  8002. Squamous cell carcinoma of the cervix uteri
  8003. Squamous cell carcinoma of the colon
  8004. Squamous cell carcinoma of the corpus uteri
  8005. Squamous cell carcinoma of the esophagus
  8006. Squamous cell carcinoma of the hypopharynx
  8007. Squamous cell carcinoma of the larynx
  8008. Squamous cell carcinoma of the lip
  8009. Squamous cell carcinoma of the oral cavity
  8010. Squamous cell carcinoma of the oral tongue
  8011. Squamous cell carcinoma of the oropharynx
  8012. Squamous cell carcinoma of the penis
  8013. Squamous cell carcinoma of the rectum
  8014. Squamous cell carcinoma of the small intestine
  8015. Squamous cell carcinoma of the stomach
  8016. SRD5A3-CDG
  8017. SSR4-CDG
  8018. St. Louis encephalitis
  8019. ST3GAL3-CDG
  8020. Stapes ankylosis with broad thumbs and toes
  8021. Staphylococcal necrotizing pneumonia
  8022. Staphylococcal scalded skin syndrome
  8023. Staphylococcal scarlet fever
  8024. Staphylococcal toxemia
  8025. Staphylococcal toxic-shock syndrome
  8026. Stargardt disease
  8027. Startle epilepsy
  8028. STAT3-related early-onset multisystem autoimmune disease
  8029. Steatocystoma multiplex-natal teeth syndrome
  8030. Steel syndrome
  8031. Steinert myotonic dystrophy
  8032. Stellate multiform amelanotic choroidopathy
  8033. Sternal cleft
  8034. Sternal malformation-vascular dysplasia syndrome
  8035. Steroid dehydrogenase deficiency-dental anomalies syndrome
  8036. Steroid-sensitive nephrotic syndrome without renal biopsy
  8037. Sterol biosynthesis disorder
  8038. Sterol metabolism disorder
  8039. Sterol metabolism disorder with epilepsy
  8040. Stevens-Johnson syndrome
  8041. Stickler syndrome
  8042. Stickler syndrome type 1
  8043. Stickler syndrome type 2
  8044. Stiff person spectrum disorder
  8045. Stiff skin syndrome
  8046. Stimmler syndrome
  8047. STING-associated vasculopathy with onset in infancy
  8048. Stormorken-Sjaastad-Langslet syndrome
  8049. Straatsma syndrome
  8050. Straddling and/or overriding mitral valve
  8051. Straddling or overriding tricuspid valve
  8052. Streptobacillary rat-bite fever
  8053. Streptococcal toxic-shock syndrome
  8054. Striate palmoplantar keratoderma
  8055. Stroke
  8056. Stromal corneal dystrophy
  8057. Stromme syndrome
  8058. Strongyloidiasis
  8059. Structural developmental eye defect
  8060. Structural developmental eye defect of genetic origin
  8061. Structural heart defects-renal anomalies syndrome
  8062. STT3A-CDG
  8063. STT3B-CDG
  8064. Sturge-Weber syndrome
  8065. Stuve-Wiedemann syndrome
  8066. STXBP1-related encephalopathy
  8067. Sub-cortical nodular heterotopia
  8068. Subacute cutaneous lupus erythematosus
  8069. Subacute inflammatory demyelinating polyneuropathy
  8070. Subacute sclerosing leukoencephalitis
  8071. Subaortic course of innominate vein
  8072. Subaortic stenosis-short stature syndrome
  8073. Subcorneal pustular dermatosis
  8074. Subcortical band heterotopia
  8075. Subcutaneous panniculitis-like T-cell lymphoma
  8076. Subcutaneous tissue disease
  8077. Subependymal giant cell astrocytoma
  8078. Subependymal nodular heterotopia
  8079. Subependymoma
  8080. Subepithelial mucinous corneal dystrophy
  8081. Submucosal cleft palate
  8082. Subpulmonary stenosis
  8083. Succinic acidemia
  8084. Succinic semialdehyde dehydrogenase deficiency
  8085. Succinyl-CoA:3-oxoacid CoA transferase deficiency
  8086. Sudden infant death-dysgenesis of the testes syndrome
  8087. Sudden sensorineural hearing loss
  8088. Sugarman brachydactyly
  8089. Sulfation-related bone disorder
  8090. Summitt syndrome
  8091. SUNCT syndrome
  8092. Superficial corneal dystrophy
  8093. Superficial epidermolytic ichthyosis
  8094. Superficial fibromatosis
  8095. Superficial pemphigus
  8096. Superficial siderosis
  8097. Superior limbic keratoconjunctivitis
  8098. Superior mesenteric artery syndrome
  8099. Supernumerary breasts
  8100. Supernumerary kidney
  8101. Supernumerary nostril
  8102. Supranuclear eye movement disorder
  8103. Supratip dysplasia
  8104. Supravalvular aortic stenosis
  8105. Supravalvular pulmonary stenosis
  8106. Supraventricular tachycardia
  8107. SURF1-related Charcot-Marie-Tooth disease type 4
  8108. Susac syndrome
  8109. Susceptibility to infection due to TYK2 deficiency
  8110. Sweet syndrome
  8111. Sydenham chorea
  8112. Symbrachydactyly of hands and feet
  8113. Symmetrical thalamic calcifications
  8114. Sympathetic ophthalmia
  8115. Symphalangism with multiple anomalies of hands and feet
  8116. Symptomatic form of HFE-related hemochromatosis
  8117. Synaptic congenital myasthenic syndrome
  8118. Syndactyly type 1
  8119. Syndactyly type 2
  8120. Syndactyly type 3
  8121. Syndactyly type 4
  8122. Syndactyly type 5
  8123. Syndactyly type 6
  8124. Syndactyly type 8
  8125. Syndactyly-polydactyly-ear lobe syndrome
  8126. Syndesmodysplasic dwarfism
  8127. Syndrome associated with dilated cardiomyopathy
  8128. Syndrome associated with hypertrophic cardiomyopathy
  8129. Syndrome of reduced sensitivity to thyroid hormone
  8130. Syndrome with 46,XX difference of sex development
  8131. Syndrome with 46,XY difference of sex development
  8132. Syndrome with alpha-thalassemia as a major feature
  8133. Syndrome with combined immunodeficiency
  8134. Syndrome with congenital neutropenia as a major feature
  8135. Syndrome with hypoparathyroidism
  8136. Syndrome with limb malformations as a major feature
  8137. Syndrome with limb reduction defects
  8138. Syndrome with microcephaly as a major feature
  8139. Syndrome with pulmonary hypertension as a major feature
  8140. Syndrome with synostosis or other joint formation defect
  8141. Syndrome with woolly hair
  8142. Syndromic agammaglobulinemia
  8143. Syndromic aniridia
  8144. Syndromic ankyloblepharon filiforme adnatum
  8145. Syndromic anorectal malformation
  8146. Syndromic autoimmune enteropathy
  8147. Syndromic autoimmune enteropathy due to LRBA deficiency
  8148. Syndromic beta-thalassemia
  8149. Syndromic biliary atresia
  8150. Syndromic breast hypoplasia/aplasia
  8151. Syndromic cataract
  8152. Syndromic congenital sodium diarrhea
  8153. Syndromic constitutional thrombocytopenia
  8154. Syndromic corneal dystrophy
  8155. Syndromic craniosynostosis
  8156. Syndromic diaphragmatic or abdominal wall malformation
  8157. Syndromic diaphragmatic or thoracic malformation
  8158. Syndromic disorder with strabismus
  8159. Syndromic ectopia lentis
  8160. Syndromic epicanthus
  8161. Syndromic esophageal malformation
  8162. Syndromic eyelid coloboma
  8163. Syndromic gastroduodenal malformation
  8164. Syndromic genetic cataract
  8165. Syndromic genetic disorder with strabismus
  8166. Syndromic genetic ectopia lentis
  8167. Syndromic genetic keratoconus
  8168. Syndromic geographic pattern capillary malformation
  8169. Syndromic hair shaft abnormality
  8170. Syndromic hereditary optic neuropathy
  8171. Syndromic hyperopia
  8172. Syndromic hypothyroidism
  8173. Syndromic intestinal malformation
  8174. Syndromic keratoconus
  8175. Syndromic lacrimal system disorder
  8176. Syndromic low resistance capillary malformation
  8177. Syndromic microphthalmia type 5
  8178. Syndromic microphthalmia-anophthalmia-coloboma
  8179. Syndromic microspherophakia
  8180. Syndromic nail anomaly
  8181. Syndromic obesity
  8182. Syndromic oculocutaneous albinism
  8183. Syndromic optic nerve hypoplasia
  8184. Syndromic orbital border hypoplasia
  8185. Syndromic outer canthal malposition
  8186. Syndromic recessive X-linked ichthyosis
  8187. Syndromic renal or urinary tract malformation
  8188. Syndromic respiratory or mediastinal malformation
  8189. Syndromic telecanthus
  8190. Syndromic urogenital tract malformation
  8191. Syndromic uterovaginal malformation
  8192. Syndromic X-linked intellectual disability 7
  8193. Syngnathia-cleft palate syndrome
  8194. Synovial sarcoma
  8195. Synpolydactyly type 1
  8196. Synpolydactyly type 2
  8197. Synpolydactyly type 3
  8198. Syringocystadenoma papilliferum
  8199. Syringomyelia
  8200. Systemic autoimmune disease
  8201. Systemic capillary leak syndrome
  8202. Systemic cystic angiomatosis-Seip syndrome
  8203. Systemic disease with glomerulopathy as a major feature
  8204. Systemic disease with skin involvement
  8205. Systemic diseases with anterior uveitis
  8206. Systemic diseases with panuveitis
  8207. Systemic diseases with posterior uveitis
  8208. Systemic lupus erythematosus
  8209. Systemic mastocytosis
  8210. Systemic mastocytosis with associated hematologic neoplasm
  8211. Systemic monochloroacetate poisoning
  8212. Systemic polyarteritis nodosa
  8213. Systemic primary carnitine deficiency
  8214. Systemic sclerosis
  8215. Systemic vasculitis associated with glomerulopathy
  8216. Systemic-onset juvenile idiopathic arthritis
  8217. T+ B+ severe combined immunodeficiency
  8218. T-B+ severe combined immunodeficiency
  8219. T-B- severe combined immunodeficiency
  8220. T-cell immunodeficiency with thymic aplasia
  8221. T-cell large granular lymphocyte leukemia
  8222. T-cell non-Hodgkin lymphoma
  8223. T-cell prolymphocytic leukemia
  8224. T-cell/histiocyte rich large B cell lymphoma
  8225. TAFRO syndrome
  8226. Takayasu arteritis
  8227. Takenouchi-Kosaki syndrome
  8228. Tako-Tsubo cardiomyopathy
  8229. Talaromycosis
  8230. Talo-patello-scaphoid osteolysis
  8231. Tangier disease
  8232. TARDBP-related predominantly upper-limb distal myopathy
  8233. TARP syndrome
  8234. Tarsal kink syndrome
  8235. Tarsal-carpal coalition syndrome
  8236. Tatton-Brown-Rahman syndrome
  8237. Taurodontia-absent teeth-sparse hair syndrome
  8238. Tay-Sachs disease
  8239. Tay-Sachs disease, adult form
  8240. Tay-Sachs disease, infantile form
  8241. Tay-Sachs disease, juvenile form
  8242. TCR-alpha-beta-positive T-cell deficiency
  8243. Teebi-Shaltout syndrome
  8244. Tel Hashomer camptodactyly syndrome
  8245. Telangiectasia macularis eruptiva perstans
  8246. Telecanthus-hypertelorism-strabismus-pes cavus syndrome
  8247. Telethonin-related limb-girdle muscular dystrophy R7
  8248. Temperature-sensitive oculocutaneous albinism type 1
  8249. TEMPI syndrome
  8250. Temple syndrome
  8251. Temple syndrome due to paternal 14q32.2 hypomethylation
  8252. Temple syndrome due to paternal 14q32.2 microdeletion
  8253. Temple-Baraitser syndrome
  8254. Temporomandibular joint anomaly
  8255. Temtamy preaxial brachydactyly syndrome
  8256. Temtamy syndrome
  8257. Tenosynovial giant cell tumor
  8258. Teratogenic Pierre Robin syndrome
  8259. Teratoma of the central nervous system
  8260. Terminal extramedullary conus spinal cord lipoma
  8261. Terminal myelocystocele
  8262. Terminal osseous dysplasia-pigmentary defects syndrome
  8263. Terrien marginal degeneration
  8264. Tessier number 4 facial cleft
  8265. Tessier number 5 facial cleft
  8266. Tessier number 6 facial cleft
  8267. Tessier number 7 facial cleft
  8268. Testicular agenesis
  8269. Testicular regression syndrome
  8270. Testicular seminomatous germ cell tumor
  8271. Testicular teratoma
  8272. Tetanus
  8273. Tethered cord syndrome
  8274. Tetraamelia-multiple malformations syndrome
  8275. Tetragametic chimerism syndrome
  8276. Tetrahydrobiopterin-responsive phenylketonuria
  8277. Tetrahydrobiopterin-unresponsive phenylketonuria
  8278. Tetralogy of Fallot
  8279. Tetramelic monodactyly
  8280. Tetraploidy syndrome
  8281. Tetrasomy 18p syndrome
  8282. Tetrasomy 21 syndrome
  8283. Tetrasomy 5p syndrome
  8284. Tetrasomy 9p syndrome
  8285. Tetrasomy X syndrome
  8286. TFR2-related hemochromatosis
  8287. Thakker-Donnai syndrome
  8288. Thalassaemia
  8289. Thalassemia
  8290. Thalidomide embryopathy
  8291. Thanatophoric dysplasia
  8292. Thanatophoric dysplasia type 1
  8293. Thanatophoric dysplasia type 2
  8294. Thanatophoric dysplasia, Glasgow variant
  8295. Thiamine-responsive encephalopathy
  8296. Thiamine-responsive maple syrup urine disease
  8297. Thiamine-responsive megaloblastic anemia syndrome
  8298. Thickened earlobes-conductive deafness syndrome
  8299. Thiel-Behnke corneal dystrophy
  8300. Thiemann disease, familial form
  8301. Thin ribs-tubular bones-dysmorphism syndrome
  8302. Thinking epilepsy
  8303. Third branchial cleft anomaly
  8304. Thomas syndrome
  8305. Thomsen and Becker disease
  8306. Thoracic dysplasia-hydrocephalus syndrome
  8307. Thoracic malformation
  8308. Thoracic outlet syndrome
  8309. Thoraco-abdominal enteric duplication
  8310. Thoracolaryngopelvic dysplasia
  8311. Thoracomelic dysplasia
  8312. Thost-Unna palmoplantar keratoderma
  8313. Thrombocythemia with distal limb defects
  8314. Thrombocytopenia with congenital dyserythropoietic anemia
  8315. Thrombocytopenia-absent radius syndrome
  8316. Thrombomodulin-related bleeding disorder
  8317. Thrombotic microangiopathy
  8318. Thrombotic thrombocytopenic purpura
  8319. Thumb deformity-alopecia-pigmentation anomaly syndrome
  8320. Thygeson superficial punctate keratitis
  8321. Thymic carcinoma
  8322. Thymic epithelial neoplasm
  8323. Thymic neuroendocrine carcinoma
  8324. Thymic neuroendocrine tumor
  8325. Thymic tumor
  8326. Thymic-renal-anal-lung dysplasia
  8327. Thymoma
  8328. Thymoma type A
  8329. Thymoma type AB
  8330. Thymoma type B
  8331. Thymoma-hypogammaglobulinemia syndrome
  8332. Thyrocerebrorenal syndrome
  8333. Thyroid ectopia
  8334. Thyroid hemiagenesis
  8335. Thyroid hypoplasia
  8336. Thyroid lymphoma
  8337. Thyrotoxic periodic paralysis
  8338. Tibial aplasia-ectrodactyly syndrome
  8339. Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
  8340. Tibial muscular dystrophy
  8341. Tick-borne encephalitis
  8342. Tietz syndrome
  8343. Timothy syndrome
  8344. Timothy syndrome type 1
  8345. Timothy syndrome type 2
  8346. Tinnitus
  8347. Titin-related limb-girdle muscular dystrophy R10
  8348. TMEM165-CDG
  8349. TMEM199-CDG
  8350. TMEM70-related mitochondrial encephalo-cardio-myopathy
  8351. TMJ or TMD
  8352. TNP03-related limb-girdle muscular dystrophy D2
  8353. Tolosa-Hunt syndrome
  8354. Toluene embryopathy
  8355. TomU-Brunet-Fardeau syndrome
  8356. TOR1AIP1-related limb-girdle muscular dystrophy
  8357. Torg-Winchester syndrome
  8358. Toriello-Carey syndrome
  8359. Torpedo Maculopathy
  8360. Torsade-de-pointes syndrome with short coupling interval
  8361. Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
  8362. Total autosomal monosomy syndrome
  8363. Total autosomal trisomy syndrome
  8364. Total early-onset cataract
  8365. Tourette’s syndrome
  8366. Townes-Brocks syndrome
  8367. Toxic dermatosis
  8368. Toxic epidermal necrolysis
  8369. Toxic maculopathy due to antimalarial drugs
  8370. Toxic oil syndrome
  8371. Toxic or drug-related embryofetopathy
  8372. Toxin-mediated infectious botulism
  8373. Toxocariasis
  8374. Tracheal agenesis
  8375. Tracheal anomaly
  8376. Tracheobronchopathia osteochondroplastica
  8377. Transaldolase deficiency
  8378. Transcobalamin deficiency
  8379. Transcobalamin I deficiency
  8380. Transgrediens et progrediens palmoplantar keratoderma
  8381. Transient congenital hypothyroidism
  8382. Transient erythroblastopenia of childhood
  8383. Transient familial neonatal hyperbilirubinemia
  8384. Transient hyperammonemia of the newborn
  8385. Transient hypogammaglobulinemia of infancy
  8386. Transient myeloproliferative syndrome
  8387. Transient neonatal diabetes mellitus
  8388. Transient neonatal myasthenia gravis
  8389. Transient pseudohypoaldosteronism
  8390. Transient tyrosinemia of the newborn
  8391. Transitional cell carcinoma of the corpus uteri
  8392. Transitional extramedullary conus spinal cord lipoma
  8393. Transketolase deficiency
  8394. Transplant-related bronchiolitis obliterans
  8395. Transposition of the great arteries
  8396. Transverse limb deficiency-hemangioma syndrome
  8397. Transverse vaginal septum
  8398. TRAPPC11-related limb-girdle muscular dystrophy R18
  8399. Traumatic avascular necrosis
  8400. Treacher-Collins syndrome
  8401. Treft-Sanborn-Carey syndrome
  8402. Trehalase deficiency
  8403. Tremor-ataxia-central hypomyelination syndrome
  8404. Tremor-nystagmus-duodenal ulcer syndrome
  8405. Trench fever
  8406. Triatrial heart
  8407. Tricarboxylic acid cycle disorder
  8408. Trichinellosis
  8409. Tricho-dento-osseous syndrome
  8410. Tricho-retino-dento-digital syndrome
  8411. Trichodental syndrome
  8412. Trichodermodysplasia-dental alterations syndrome
  8413. Trichodysplasia-amelogenesis imperfecta syndrome
  8414. Trichodysplasia-xeroderma syndrome
  8415. Trichofolliculoma
  8416. Trichohepatoenteric syndrome
  8417. Trichoodontoonychial dysplasia
  8418. Trichorhinophalangeal syndrome
  8419. Trichorhinophalangeal syndrome type 1
  8420. Trichorhinophalangeal syndrome type 2
  8421. Trichothiodystrophy
  8422. Tricuspid atresia
  8423. Tricuspid valve agenesis
  8424. Trigeminal autonomic cephalalgia
  8425. Trigeminal neuralgia
  8426. Trigeminal trophic syndrome
  8427. Triglyceride deposit cardiomyovasculopathy
  8428. Trigonocephaly-bifid nose-acral anomalies syndrome
  8429. Trigonocephaly-broad thumbs syndrome
  8430. Trigonocephaly-short stature-developmental delay syndrome
  8431. TRIM22-related inflammatory bowel disease
  8432. TRIM32-related limb-girdle muscular dystrophy R8
  8433. Triose phosphate-isomerase deficiency
  8434. Triphalangeal thumb-polysyndactyly syndrome
  8435. Triphalangeal thumbs-brachyectrodactyly syndrome
  8436. Triple A syndrome
  8437. Triploidy syndrome
  8438. Trismus-pseudocamptodactyly syndrome
  8439. Trisomy 10p syndrome
  8440. Trisomy 12p syndrome
  8441. Trisomy 13 syndrome
  8442. Trisomy 17p syndrome
  8443. Trisomy 18 syndrome
  8444. Trisomy 18p syndrome
  8445. Trisomy 1q syndrome
  8446. Trisomy 20p syndrome
  8447. Trisomy 4p syndrome
  8448. Trisomy 5p syndrome
  8449. Trisomy 8p syndrome
  8450. Trisomy 8q syndrome
  8451. Trisomy 9p syndrome
  8452. Trisomy X syndrome
  8453. Tritanopia
  8454. Tropical endomyocardial fibrosis
  8455. Tropical pancreatitis
  8456. Tropical spastic paraparesis
  8457. TRPV4-related bone disorder
  8458. True congenital shoulder dislocation
  8459. True myelomeningocele
  8460. True myeloschisis
  8461. True unicornuate uterus
  8462. TSH-secreting pituitary adenoma
  8463. Tuberculosis
  8464. Tuberous sclerosis complex
  8465. Tubular aggregate myopathy
  8466. Tubulinopathy-associated dysgyria
  8467. Tubulocystic renal cell carcinoma
  8468. Tubulointerstitial nephritis and uveitis syndrome
  8469. Tufted angioma
  8470. Tularemia
  8471. Tumor of cranial and spinal nerves
  8472. Tumor of endocrine glands
  8473. Tumor of hematopoietic and lymphoid tissues
  8474. Tumor of meninges
  8475. Tumor of testis and paratestis
  8476. Tungiasis
  8477. Tunnel subaortic stenosis
  8478. Turcot syndrome with polyposis
  8479. Turner syndrome
  8480. Turner syndrome due to structural X chromosome anomalies
  8481. Turnpenny-Fry syndrome
  8482. Twin anemia-polycythemia sequence
  8483. Twin to twin transfusion syndrome
  8484. Twin-reversed arterial perfusion sequence
  8485. Type 1 diabetes
  8486. Type 1 interferonopathy
  8487. Type 1 interferonopathy of childhood
  8488. Type 11 collagen-related bone disorder
  8489. Type 2 collagen-related bone disorder
  8490. Type 2 diabetes
  8491. Typhoid
  8492. Typhus-group rickettsiosis
  8493. Typical nemaline myopathy
  8494. Typical urticaria pigmentosa
  8495. Tyrosinemia type 1
  8496. Tyrosinemia type 2
  8497. Tyrosinemia type 3
  8498. Uhl anomaly
  8499. Ulbright-Hodes syndrome
  8500. Ulcerative colitis
  8501. Ulerythema ophryogenesis
  8502. Ullrich congenital muscular dystrophy
  8503. Ulna hypoplasia-intellectual disability syndrome
  8504. Ulnar hypoplasia-split foot syndrome
  8505. Ulnar-mammary syndrome
  8506. Ulnar/fibula ray defect-brachydactyly syndrome
  8507. Umbilical cord ulceration-intestinal atresia syndrome
  8508. Unclassified acute myeloid leukemia
  8509. Unclassified autoinflammatory syndrome
  8510. Unclassified autoinflammatory syndrome of childhood
  8511. Unclassified cardiomyopathy
  8512. Unclassified genetic skin disorder
  8513. Unclassified intestinal pseudoobstruction
  8514. Unclassified myelodysplastic syndrome
  8515. Unclassified myelodysplastic/myeloproliferative disease
  8516. Unclassified vasculitis
  8517. Uncombable hair syndrome
  8518. Undifferentiated carcinoma of esophagus
  8519. Undifferentiated carcinoma of stomach
  8520. Undifferentiated carcinoma of the corpus uteri
  8521. Undifferentiated connective tissue disease
  8522. Undifferentiated connective tissue syndrome
  8523. Undifferentiated embryonal sarcoma of the liver
  8524. Undifferentiated pleomorphic sarcoma
  8525. Unexplained long-lasting fever/inflammatory syndrome
  8526. Unexplained periodic fever syndrome
  8527. Unexplained periodic fever syndrome of childhood
  8528. Unicentric Castleman disease
  8529. Unicervical bicornuate uterus
  8530. Unifocal fast-flow vascular malformation
  8531. Unifocal Langerhans cell histiocytosis
  8532. Unifocal peripheral venous malformation
  8533. Unifocal sporadic venous malformation
  8534. Unilateral aplasia of the Mullerian ducts
  8535. Unilateral congenital megacalycosis
  8536. Unilateral focal polymicrogyria
  8537. Unilateral hemispheric polymicrogyria
  8538. Unilateral multicystic dysplastic kidney
  8539. Unilateral ocular duplication
  8540. Unilateral polymicrogyria
  8541. Uniparental disomy of chromosome X syndrome
  8542. Univentricular cardiopathy
  8543. Univentricular heart
  8544. Unspecified juvenile idiopathic arthritis
  8545. Unspecified mitochondrial disorder
  8546. Unstable alpha globin chain variant disease
  8547. Unstable beta globin chain variant disease
  8548. Unstable gamma globin chain variant disease
  8549. Upington disease
  8550. Upper limb defect-eye and ear abnormalities syndrome
  8551. Upper limb hypertrophy
  8552. Upper limb mesomelic dysplasia, type Fryns
  8553. Upper tract urothelial carcinoma
  8554. Urachal carcinoma
  8555. Urachal cyst
  8556. Urachal diverticulum
  8557. Urachal sinus
  8558. Urban-Rogers-Meyer syndrome
  8559. Uremic pruritus
  8560. Urinary tract arteriovenous malformation
  8561. Urocanic aciduria
  8562. Urofacial syndrome
  8563. Urogenital tract malformation
  8564. Usher syndrome
  8565. Usher syndrome type 1
  8566. Usher syndrome type 2
  8567. Usher syndrome type 3
  8568. Uterine arteriovenous malformation
  8569. Uterine cervical aplasia and agenesis
  8570. Uterine fibroids
  8571. Uterine hypoplasia
  8572. Uterovaginal malformation
  8573. UV-sensitive syndrome
  8574. Uveal coloboma-cleft lip and palate-intellectual disability
  8575. Uveal melanoma
  8576. Uveitis
  8577. Vaccine-induced immune thrombotic thrombocytopenia
  8578. VACTERL with hydrocephalus
  8579. VACTERL/VATER association
  8580. Vaginal atresia
  8581. Vaginal carcinoma
  8582. Valvular pulmonary stenosis
  8583. Van den Ende-Gupta syndrome
  8584. Van der Woude syndrome
  8585. Variable age-onset epilepsy syndrome
  8586. Variably protease-sensitive prionopathy
  8587. Variant ABeta2M amyloidosis
  8588. Variant Creutzfeldt-Jakob disease
  8589. Variant of Guillain-Barre syndrome
  8590. Variegate porphyria
  8591. Vasa previa
  8592. Vascular Ehlers-Danlos syndrome
  8593. Vascular Ehlers-Danlos-polymicrogyria syndrome
  8594. Vascular-like classical Ehlers-Danlos syndrome
  8595. Vasculitis
  8596. Vasoproliferative tumor of the retina
  8597. Vasovagal syncope
  8598. Vasquez-Hurst-Sotos syndrome
  8599. Vegetative pyoderma gangrenosum
  8600. Vein of Galen malformation
  8601. Velo-facial-skeletal syndrome
  8602. Venezuelan hemorrhagic fever
  8603. Venous thoracic outlet syndrome
  8604. Ventilator-induced diaphragmatic dysfunction
  8605. Ventriculomegaly-cystic kidney disease
  8606. Verloove Vanhorick-Brubakk syndrome
  8607. Vernal keratoconjunctivitis
  8608. Verrucous hemangioma
  8609. Verrucous nevus
  8610. Verruga peruana
  8611. Very long chain acyl-CoA dehydrogenase deficiency
  8612. Vestibular migraine
  8613. Vestibular schwannoma
  8614. VEXAS syndrome
  8615. Vibratory urticaria
  8616. Vici syndrome
  8617. VIPoma
  8618. Viral hemorrhagic fever
  8619. Viral myositis
  8620. Virus-associated trichodysplasia spinulosa
  8621. Visceral arteriovenous malformation
  8622. Visceral calciphylaxis
  8623. Visceral heterotaxy
  8624. Visual snow syndrome
  8625. Vitamin B12-responsive methylmalonic acidemia
  8626. Vitamin B12-responsive methylmalonic acidemia type cblA
  8627. Vitamin B12-responsive methylmalonic acidemia type cblB
  8628. Vitamin B12-unresponsive methylmalonic acidemia
  8629. Vitamin B12-unresponsive methylmalonic acidemia type mut-
  8630. Vitamin B12-unresponsive methylmalonic acidemia type mut0
  8631. Vitamin K antagonist embryofetopathy
  8632. Vitiligo
  8633. Vitreoretinopathy
  8634. Vocal cord and pharyngeal distal myopathy
  8635. Vogt-Koyanagi-Harada disease
  8636. Von Hippel-Lindau disease
  8637. Von Voss-Cherstvoy syndrome
  8638. Von Willebrand disease
  8639. Von Willebrand disease type 1
  8640. Von Willebrand disease type 2
  8641. Von Willebrand disease type 2A
  8642. Von Willebrand disease type 2B
  8643. Von Willebrand disease type 2M
  8644. Von Willebrand disease type 2N
  8645. Von Willebrand disease type 3
  8646. Vulvar adenocarcinoma
  8647. Vulvar basal cell carcinoma
  8648. Vulvar carcinoma
  8649. Vulvar intraepithelial neoplasia
  8650. Vulvar squamous cell carcinoma
  8651. Vulvodynia
  8652. Vulvovaginal gingival syndrome
  8653. Vulvovaginal rhabdomyosarcoma
  8654. W syndrome
  8655. Waardenburg syndrome
  8656. Waardenburg syndrome type 1
  8657. Waardenburg syndrome type 2
  8658. Waardenburg syndrome type 3
  8659. Waardenburg-Shah syndrome
  8660. Wagner disease
  8661. WAGR syndrome
  8662. Waldenstrom macroglobulinemia
  8663. Walker-Warburg syndrome
  8664. WARS2-related combined oxidative phosphorylation defect
  8665. Warsaw breakage syndrome
  8666. Warty dyskeratoma
  8667. Waterhouse-Friderichsen syndrome
  8668. Watson syndrome
  8669. Weaver syndrome
  8670. Weaver-like syndrome
  8671. Weaver-Williams syndrome
  8672. Weill-Marchesani syndrome
  8673. Weismann-Netter syndrome
  8674. Weiss-Kruszka Syndrome
  8675. Weissenbacher-Zweymuller syndrome
  8676. Well-differentiated fetal adenocarcinoma of the lung
  8677. Well-differentiated liposarcoma
  8678. Well-differentiated thymic neuroendocrine carcinoma
  8679. Wells syndrome
  8680. Werner syndrome
  8681. West syndrome
  8682. West-Nile encephalitis
  8683. Western equine encephalitis
  8684. WHIM syndrome
  8685. Whipple disease
  8686. White fibrous papulosis of the neck
  8687. White forelock with malformations
  8688. White platelet syndrome
  8689. White sponge nevus
  8690. White-Sutton syndrome
  8691. Whooping cough
  8692. Wieacker-Wolff syndrome
  8693. Wiedemann-Rautenstrauch syndrome
  8694. Wiedemann-Steiner syndrome
  8695. Wild type ABeta2M amyloidosis
  8696. Wild type ATTR amyloidosis
  8697. Wildervanck syndrome
  8698. Williams syndrome
  8699. Williams-Campbell syndrome
  8700. Wilson disease
  8701. Wilson-Turner syndrome
  8702. Wiskott-Aldrich syndrome
  8703. Witteveen-Kolk syndrome
  8704. Wolcott-Rallison syndrome
  8705. Wolf-Hirschhorn syndrome
  8706. Wolfram syndrome
  8707. Wolfram-like syndrome
  8708. Wolman disease
  8709. Woodhouse-Sakati syndrome
  8710. Woolly hair
  8711. Woolly hair nevus
  8712. Woolly hair-palmoplantar keratoderma syndrome
  8713. Worster-Drought syndrome
  8714. Wound botulism
  8715. Wound myiasis
  8716. Wrinkly skin syndrome
  8717. WT limb-blood syndrome
  8718. X and Y chromosomal anomaly syndrome
  8719. X chromosome number anomaly syndrome
  8720. X chromosome number anomaly with male phenotype syndrome
  8721. X small rings syndrome
  8722. X-linked acrogigantism
  8723. X-linked adrenal hypoplasia congenita
  8724. X-linked adrenoleukodystrophy
  8725. X-linked agammaglobulinemia
  8726. X-linked alpha-thalassemia-intellectual disability syndrome
  8727. X-linked Alport syndrome
  8728. X-linked Alport syndrome-diffuse leiomyomatosis
  8729. X-linked calvarial hyperostosis
  8730. X-linked centronuclear myopathy
  8731. X-linked cerebellar ataxia
  8732. X-linked cerebral adrenoleukodystrophy
  8733. X-linked cerebral-cerebellar-coloboma syndrome
  8734. X-linked Charcot-Marie-Tooth disease
  8735. X-linked Charcot-Marie-Tooth disease type 1
  8736. X-linked Charcot-Marie-Tooth disease type 2
  8737. X-linked Charcot-Marie-Tooth disease type 3
  8738. X-linked Charcot-Marie-Tooth disease type 4
  8739. X-linked Charcot-Marie-Tooth disease type 5
  8740. X-linked Charcot-Marie-Tooth disease type 6
  8741. X-linked cleft palate and ankyloglossia
  8742. X-linked complex spastic paraplegia
  8743. X-linked complicated corpus callosum dysgenesis
  8744. X-linked complicated spastic paraplegia type 1
  8745. X-linked cone dysfunction syndrome with myopia
  8746. X-linked congenital generalized hypertrichosis
  8747. X-linked corneal dermoid
  8748. X-linked creatine transporter deficiency
  8749. X-linked distal hereditary motor neuropathy
  8750. X-linked distal myopathy
  8751. X-linked distal spinal muscular atrophy type 3
  8752. X-linked dominant chondrodysplasia punctata
  8753. X-linked dystonia-parkinsonism
  8754. X-linked Ehlers-Danlos syndrome
  8755. X-linked Emery-Dreifuss muscular dystrophy
  8756. X-linked endothelial corneal dystrophy
  8757. X-linked erythropoietic protoporphyria
  8758. X-linked fetal akinesia syndrome
  8759. X-linked hyper-IgM syndrome
  8760. X-linked hypohidrotic ectodermal dysplasia
  8761. X-linked hypophosphatemia
  8762. X-linked ichthyosis syndrome
  8763. X-linked immunoneurologic disorder
  8764. X-linked intellectual disability due to GRIA3 mutations
  8765. X-linked intellectual disability, Abidi type
  8766. X-linked intellectual disability, Armfield type
  8767. X-linked intellectual disability, Brooks type
  8768. X-linked intellectual disability, Cabezas type
  8769. X-linked intellectual disability, Cantagrel type
  8770. X-linked intellectual disability, Cilliers type
  8771. X-linked intellectual disability, Fichera type
  8772. X-linked intellectual disability, Golabi-Ito-Hall type
  8773. X-linked intellectual disability, Gu type
  8774. X-linked intellectual disability, Hedera type
  8775. X-linked intellectual disability, Miles-Carpenter type
  8776. X-linked intellectual disability, Najm type
  8777. X-linked intellectual disability, Nascimento type
  8778. X-linked intellectual disability, Pai type
  8779. X-linked intellectual disability, Porteous type
  8780. X-linked intellectual disability, Raymond type
  8781. X-linked intellectual disability, Schimke type
  8782. X-linked intellectual disability, Seemanova type
  8783. X-linked intellectual disability, Shashi type
  8784. X-linked intellectual disability, Shrimpton type
  8785. X-linked intellectual disability, Siderius type
  8786. X-linked intellectual disability, Snyder type
  8787. X-linked intellectual disability, Stevenson type
  8788. X-linked intellectual disability, Stocco Dos Santos type
  8789. X-linked intellectual disability, Stoll type
  8790. X-linked intellectual disability, Sutherland-Haan type
  8791. X-linked intellectual disability, Turner type
  8792. X-linked intellectual disability, Van Esch type
  8793. X-linked intellectual disability, Vitale type
  8794. X-linked intellectual disability, Wilson type
  8795. X-linked intellectual disability, Wittwer type
  8796. X-linked intellectual disability, Zorick type
  8797. X-linked intellectual disability-ataxia-apraxia syndrome
  8798. X-linked intellectual disability-epilepsy syndrome
  8799. X-linked intellectual disability-hypotonic face syndrome
  8800. X-linked intellectual disability-plagiocephaly syndrome
  8801. X-linked lethal multiple pterygium syndrome
  8802. X-linked lissencephaly with abnormal genitalia
  8803. X-linked lymphoproliferative disease
  8804. X-linked mandibulofacial dysostosis
  8805. X-linked mixed deafness with perilymphatic gusher
  8806. X-linked myopathy with excessive autophagy
  8807. X-linked myopathy with postural muscle atrophy
  8808. X-linked myotubular myopathy-abnormal genitalia syndrome
  8809. X-linked neurodegenerative syndrome, Bertini type
  8810. X-linked neurodegenerative syndrome, Hamel type
  8811. X-linked non progressive cerebellar ataxia
  8812. X-linked non-syndromic intellectual disability
  8813. X-linked osteoporosis with fractures
  8814. X-linked parkinsonism-spasticity syndrome
  8815. X-linked progressive cerebellar ataxia
  8816. X-linked pure spastic paraplegia
  8817. X-linked recessive ocular albinism
  8818. X-linked reticulate pigmentary disorder
  8819. X-linked retinoschisis
  8820. X-linked scapuloperoneal muscular dystrophy
  8821. X-linked severe congenital neutropenia
  8822. X-linked sideroblastic anemia
  8823. X-linked sideroblastic anemia and spinocerebellar ataxia
  8824. X-linked spastic paraplegia type 16
  8825. X-linked spastic paraplegia type 34
  8826. X-linked spinocerebellar ataxia type 3
  8827. X-linked spinocerebellar ataxia type 4
  8828. X-linked spondyloepimetaphyseal dysplasia
  8829. X-linked thrombocytopenia with normal platelets
  8830. Xanthinuria type I
  8831. Xanthinuria type II
  8832. Xanthoma disseminatum
  8833. Xeroderma pigmentosum
  8834. Xeroderma pigmentosum variant
  8835. Xeroderma pigmentosum-Cockayne syndrome complex
  8836. XK aprosencephaly syndrome
  8837. XMEN
  8838. Xp21 deletion syndrome
  8839. Xp22.13p22.2 duplication syndrome
  8840. Xp22.3 microdeletion syndrome
  8841. Xq12-q13.3 duplication syndrome
  8842. Xq21 microdeletion syndrome
  8843. Xq25 microduplication syndrome
  8844. Xq27.3q28 duplication syndrome
  8845. XY type gonadal dysgenesis-associated anomalies syndrome
  8846. XYLT1-CDG
  8847. Y chromosome number anomaly syndrome
  8848. Yellow fever
  8849. Yersinia pseudotuberculosis infection
  8850. Yolk sac tumor
  8851. Yolk sac tumor of central nervous system
  8852. Young adult-onset distal hereditary motor neuropathy
  8853. Young syndrome
  8854. Young-onset Parkinson disease
  8855. Yunis-Varon syndrome
  8856. Zebra body myopathy
  8857. Zechi-Ceide syndrome
  8858. Zellweger syndrome
  8859. Zellweger-like syndrome without peroxisomal anomalies
  8860. Zika virus disease
  8861. Zimmermann-Laband syndrome
  8862. Zinc-responsive necrolytic acral erythema
  8863. Zollinger-Ellison syndrome
  8864. ZTTK syndrome
  8865. Zygodactyly type 1
  8866. Zygodactyly type 2
  8867. Zygodactyly type 3
  8868. Zygodactyly type 4
  8869. Zygomycosis

Rare-disease names from the Orphanet nomenclature (Orphadata, CC BY 4.0).

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