Table 4: List of Rare Diseases and Related Terms as per US ...

Table 4: List of Rare Diseases and Related Terms as per US
Department of Health (as on 25th Feb 2013)
S. Rare Diseases
No
1 Aagenaes syndrome
2 Aarskog syndrome
3 Aase-Smith syndrome
4 ABCD syndrome
5 Abderhalden Kaufmann Lignac syndrome
6 Abdominal aortic aneurysm
7 Abdominal chemodectomas with cutaneous angiolipomas
8 Abdominal cystic lymphangioma
9 Abdominal obesity metabolic syndrome
10 Aberrant subclavian artery
11 Abetalipoproteinemia
12 Abidi X-linked mental retardation syndrome
13 Ablepharon macrostomia syndrome
14 Abrikosov's tumor
15 Abruzzo Erickson syndrome
16 Absence of fingerprints congenital milia
17 Absence of gluteal muscle
18 Absence of septum pellucidum
19 Absence of Tibia
20 Absence of tibia with polydactyly
21 Absent breasts and nipples
22 Absent patella
23 Absent T lymphocytes
24 Abuse dwarfism syndrome
25 Acalvaria
26 Acanthamoeba infection
27 Acanthocheilonemiasis
28 Acanthocytosis
29 Acanthoma
30 Acanthosis nigricans
31 Acanthosis nigricans muscle cramps acral enlargement
32 Acardia
33 Acatalasemia
34 Accessory deep peroneal nerve
35 Accessory pancreas
36 ACDC

37 Aceruloplasminemia
38 Acetyl CoA acetyltransferase 2 deficiency
39 Acetyl-carnitine deficiency
40 Achalasia
41 Achalasia microcephaly syndrome
42 Achalasia, familial esophageal
43 Achard syndrome
44 Achard Thiers syndrome
45 Acheiropody
46 Achondrogenesis
47 Achondrogenesis type 1A
48 Achondrogenesis type 1B
49 Achondrogenesis type 2
50 Achondroplasia
51 Achondroplasia and severe combined immunodeficiency
52 Achondroplasia and Swiss type agammaglobulinemia
53 Achromatopsia 2
54 Achromatopsia 3
55 Acinic cell carcinoma
56 Acitretin embryopathy
57 Ackerman syndrome
58 Acoustic neuroma
59 Acquired agranulocytosis
60 Acquired angioedema
61 Acquired fructose intolerance
62 Acquired hemophilia
63 Acquired hypoprothrombinemia
64 Acquired pure red cell aplasia
65 Acquired Von Willebrand syndrome
66 Acral dysostosis dyserythropoiesis syndrome
67 Acral lentiginous melanoma
68 Acro coxo mesomelic dysplasia
69 Acrocallosal syndrome, Schinzel type
70 Acrocapitofemoral dysplasia
71 Acrocephalopolydactylous dysplasia
72 Acrocephalopolydactyly
73 Acrodermatitis
74 Acrodermatitis enteropathica
75 Acrodysostosis
76 Acrodysplasia scoliosis

77 Acrodysplasia with ossification abnormalities, short stature and
fibular hypoplasia
78 Acrofacial dysostosis Catania type
79 Acrofacial dysostosis Palagonia type
80 Acrofacial dysostosis Preis type
81 Acrofacial dysostosis Rodriguez type
82 Acrofrontofacionasal dysostosis syndrome
83 Acrogeria, Gottron type
84 Acrokeratoelastoidosis of Costa
85 Acromegaloid changes, cutis verticis gyrata and corneal leukoma
86 Acromegaloid facial appearance syndrome
87 Acromegaloid features, overgrowth, cleft palate and hernia
88 Acromegaloid hypertrichosis syndrome
89 Acromegaly
90 Acromelanosis
91 Acromelic frontonasal dysostosis
92 Acromesomelic dysplasia
93 Acromesomelic dysplasia Campailla Martinelli type
94 Acromesomelic dysplasia Hunter Thompson type
95 Acromesomelic dysplasia Maroteaux type
96 Acromicric dysplasia
97 Acroosteolysis dominant type
98 Acropectoral syndrome
99 Acro-pectoro-renal field defect
100 Acropectorovertebral dysplasia F form
101 Acrorenal mandibular syndrome
102 Acrorenal syndrome recessive
103 Acrospiroma
104 ACTH-independent macronodular adrenal hyperplasia
105 Actinic cheilitis
106 Actinomycosis
107 Acute articular rheumatism
108 Acute biphenotypic leukemia
109 Acute cholinergic dysautonomia
110 Acute disseminated encephalomyelitis
111 Acute erythroblastic leukemia
112 Acute erythroid leukemia
113 Acute fatty liver of pregnancy
114 Acute febrile neutrophilic dermatosis
115 Acute graft versus host disease

116 Acute hemorrhagic leukoencephalitis
117 Acute intermittent porphyria
118 Acute lymphoblastic leukemia
119 Acute lymphoblastic leukemia congenital sporadic aniridia
120 Acute lymphoblastic leukemia, childhood
121 Acute megakaryoblastic leukemia
122 Acute monoblastic leukemia
123 Acute mountain sickness
124 Acute myeloblastic leukemia type 1
125 Acute myeloblastic leukemia type 2
126 Acute myeloblastic leukemia type 3
127 Acute myeloblastic leukemia type 4
128 Acute myeloblastic leukemia type 5
129 Acute myeloblastic leukemia type 6
130 Acute myeloblastic leukemia type 7
131 Acute myeloblastic leukemia with maturation
132 Acute myeloblastic leukemia without maturation
133 Acute myelocytic leukemia
134 Acute myeloid leukemia, adult
135 Acute myeloid leukemia, childhood
136 Acute myelomonocytic leukemia
137 Acute necrotizing ulcerative gingivitis
138 Acute non lymphoblastic leukemia
139 Acute promyelocytic leukemia
140 Acute respiratory distress syndrome
141 Acute zonal occult outer retinopathy
142 Adactylia unilateral
143 Adams Oliver syndrome
144 Addison's disease
145 Adducted thumb and clubfoot syndrome
146 Adducted thumbs Dundar type
147 Adenine phosphoribosyltransferase deficiency
148 Adenoameloblastoma
149 Adenocarcinoid tumor
150 Adenocarcinoma of lung
151 Adenocarcinoma of the appendix
152 Adenoid cystic carcinoma
153 Adenoma of the adrenal gland
154 Adenomyosis
155 Adenosarcoma of the uterus

156 Adenosine deaminase deficiency
157 Adenosine monophosphate deaminase 1 deficiency
158 Adenylosuccinase deficiency
159 Adie syndrome
160 Adiposis dolorosa
161 Adnexal spiradenoma/cylindroma of a sweat gland
162 Adrenal cancer
163 Adrenal medulla cancer
164 Adrenocortical carcinoma
165 Adrenoleukodystrophy X-linked
166 Adrenomyeloneuropathy
167 Adrenomyodystrophy
168 Adult neuronal ceroid lipofuscinosis
169 Adult progressive spinal muscular atrophy Aran Duchenne type
170 ADULT syndrome
171 Adult-onset citrullinemia type II
172 Adult-onset vitelliform macular dystrophy
173 Advanced sleep phase syndrome, familial
174 Aerobic actinomyces infection
175 Afibrinogenemia
176 Agammaglobulinemia X-linked type 2
177 Agammaglobulinemia, microcephaly, and severe dermatitis
178 Agammaglobulinemia, non-Bruton type
179 Aganglionosis, total intestinal
180 AGAT deficiency
181 Agenesis of the dorsal pancreas
182 Aggressive NK cell leukemia
183 Aglossia and Situs Inversus
184 Agnathia-microstomia-synotia
185 Agnosia
186 Agyria pachygyria polymicrogyria
187 Agyria-pachygyria type 1
188 Ahumada Del Castillo syndrome
189 Aicardi syndrome
190 Aicardi-Goutieres syndrome
191 Aicardi-Goutieres syndrome type 1
192 Aicardi-Goutieres syndrome type 2
193 Aicardi-Goutieres syndrome type 3
194 Aicardi-Goutieres syndrome type 4
195 Aicardi-Goutieres syndrome type 5

196 AIDS Dementia Complex
197 AIDS dysmorphic syndrome
198 Ainhum
199 Akaba Hayasaka syndrome
200 Akesson syndrome
201 Aksu von Stockhausen syndrome
202 AL amyloidosis
203 Al Gazali Aziz Salem syndrome
204 Al Gazali Khidr Prem Chandran syndrome
205 Al Gazali Sabrinathan Nair syndrome
206 Al Gazali syndrome
207 Alagille syndrome
208 Aland island eye disease
209 Alaninuria with microcephaly, dwarfism, enamel hypoplasia and
diabetes mellitus
210 Albinism
211 Albinism deafness syndrome
212 Albinism immunodeficiency
213 Albinism ocular late onset sensorineural deafness
214 Albinism, minimal pigment type
215 Albright like syndrome
216 Albright's hereditary osteodystrophy
217 Aldred syndrome
218 Alexander disease
219 Al-Gazali-Donnai-Mueller syndrome
220 ALK+ histiocytosis
221 Alkaptonuria
222 Allain-Babin-Demarquez syndrome
223 Allan-Herndon-Dudley syndrome
224 Allergic angiitis
225 Allergic autoimmune thyroiditis
226 Allergic bronchopulmonary aspergillosis
227 Allergic encephalomyelitis
228 Aloi Tomasini Isaia syndrome
229 Alopecia congenita keratosis palmoplantaris
230 Alopecia contractures dwarfism mental retardation
231 Alopecia epilepsy oligophrenia syndrome of Moynahan
232 Alopecia immunodeficiency
233 Alopecia macular degeneration growth retardation
234 Alopecia mental retardation syndrome 1

235 Alopecia mental retardation syndrome 2
236 Alopecia universalis onychodystrophy vitiligo
237 Alopecia, epilepsy, pyorrhea, mental subnormality
238 Alpers syndrome
239 Alpha 1-antitrypsin deficiency
240 Alpha mannosidosis type 2
241 Alpha-2 deficient collagen disease
242 Alpha-ketoglutarate dehydrogenase deficiency
243 Alpha-mannosidosis type 1
244 Alpha-Thalassemia
245 Alpha-thalassemia x-linked intellectual disability syndrome
246 Alpha-thalassemia-abnormal morphogenesis
247 Alport syndrome
248 Alsing syndrome
249 ALS-like syndrome of encephalomyopathy
250 Alström syndrome
251 Alternating hemiplegia of childhood
252 Aluminium lung
253 Alveolar capillary dysplasia
254 Alveolar echinococcosis
255 Alveolar soft part sarcoma
256 Alveolitis, extrinsic allergic
257 Alzheimer disease familial
258 Alzheimer disease type 1
259 Alzheimer disease type 2
260 Alzheimer disease type 3
261 Alzheimer disease type 4
262 Alzheimer's disease without neurofibrillary tangles
263 Amaurosis congenita cone-rod type with congenital hypertrichosis
264 Amaurosis fugax
265 Ambras syndrome
266 Amebiasis
267 Amelia cleft lip palate hydrocephalus iris coloboma
268 Ameloblastic carcinoma
269 Amelogenesis imperfecta
270 Amelogenesis imperfecta hypomaturation type
271 Amelogenesis imperfecta hypoplastic type, IG
272 Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
273 Amelogenesis imperfecta local hypoplastic
274 Amelogenesis imperfecta nephrocalcinosis

275 Amelogenesis imperfecta pigmented hypomaturation type
276 Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked
2
277 Ameloonychohypohidrotic syndrome
278 Amino aciduria with mental deficiency, dwarfism, muscular
dystrophy, osteoporosis and acidosis
279 Aminoaciduria
280 Aminoacylase 1 deficiency
281 Aminolevulinate dehydratase deficiency porphyria
282 Amish lethal microcephaly
283 Amniotic band syndrome
284 Ampola syndrome
285 Amyloid neuropathy
286 Amyloidosis AA
287 Amyloidosis Beta2M
288 Amyloidosis bronchopulmonary
289 Amyloidosis cerebral
290 Amyloidosis corneal
291 Amyloidosis familial visceral
292 Amyloidosis Finnish type
293 Amyloidosis nodular localized cutaneous
294 Amyloidosis of gingiva and conjunctiva, with mental retardation
295 Amyloidosis primary cutaneous
296 Amyopathic dermatomyositis
297 Amyoplasia mandibulofacial dysostosis
298 Amyotonia congenita
299 Amyotrophic lateral sclerosis
300 Amyotrophic lateral sclerosis type 10
301 Amyotrophic lateral sclerosis type 11
302 Amyotrophic lateral sclerosis type 2
303 Amyotrophic lateral sclerosis type 3
304 Amyotrophic lateral sclerosis type 4
305 Amyotrophic lateral sclerosis type 5
306 Amyotrophic lateral sclerosis type 6
307 Amyotrophic lateral sclerosis type 7
308 Amyotrophic lateral sclerosis type 8
309 Amyotrophic lateral sclerosis type 9
310 Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
311 Amyotrophy, neurogenic scapuloperoneal, New England type
312 Anal cancer

313 Anal sphincter dysplasia
314 Anaplastic astrocytoma
315 Anaplastic ependymoma
316 Anaplastic ganglioglioma
317 Anaplastic large cell lymphoma
318 Anaplastic oligoastrocytoma
319 Anaplastic oligodendroglioma
320 Anaplastic plasmacytoma
321 Anaplastic small cell lymphoma
322 Anauxetic dysplasia
323 Ancylostomiasis
324 Andermann syndrome
325 Andersen-Tawil syndrome
326 Androgen insensitivity syndrome
327 Androgen insensitivity syndrome, mild
328 Androgen insensitivity syndrome, partial
329 Anemia due to Adenosine triphosphatase deficiency
330 Anemia sideroblastic and spinocerebellar ataxia
331 Anencephaly
332 Anencephaly and spina bifida X-linked
333 Aneurysm of sinus of Valsalva
334 Aneurysm, intracranial berry, 2
335 Aneurysmal bone cysts
336 Angel shaped phalangoepiphyseal dysplasia
337 Angelman syndrome
338 Angiofollicular ganglionic hyperplasia
339 Angiofollicular lymph hyperplasia
340 Angioimmunoblastic lymphadenopathy with dysproteinemia
341 Angiokeratoma mental retardation coarse face
342 Angioma hereditary neurocutaneous
343 Angioma serpiginosum, autosomal dominant
344 Angioma serpiginosum, X-linked
345 Angiomatosis, diffuse corticomeningeal, of Divry and Van
Bogaert
346 Angiomatosis, leptomeningeal capillary venous
347 Angiomatous lymphoid hamartoma
348 Angiomyomatous Hamartoma
349 Angiosarcoma of the breast
350 Angiosarcoma of the liver
351 Angiosarcoma of the scalp

352 Angiostrongyliasis
353 Aniridia
354 Aniridia absent patella
355 Aniridia ataxia renal agenesis psychomotor retardation
356 Aniridia mental retardation syndrome
357 Aniridia ptosis mental retardation obesity familial
358 Aniridia renal agenesis psychomotor retardation
359 Aniridia, cerebellar ataxia and mental deficiency
360 Anisakiasis
361 Ankle defects short stature
362 Ankyloblepharon filiforme adnatum cleft palate
363 Ankyloblepharon filiforme imperforate anus
364 Ankylosis of teeth
365 Annular constricting bands
366 Annular pancreas
367 Anodontia
368 Anomalous origin of right pulmonary artery familial
369 Anonychia congenita
370 Anonychia ectrodactyly
371 Anonychia onychodystrophy
372 Anonychia total with microcephaly
373 Anonychia-onychodystrophy with brachydactyly type B and
ectrodactyly
374 Anonychia-onychodystrophy with hypoplasia or absence of distal
phalanges
375 Anophthalmia cleft lip palate hypothalamic disorder
376 Anophthalmia cleft palate micrognathia
377 Anophthalmia esophageal atresia cryptorchidism
378 Anophthalmia megalocornea cardiopathy skeletal anomalies
379 Anophthalmia microcephaly hypogonadism
380 Anophthalmia or microphthalmia, retinal dystrophy and/or
myopia associated with brain anomalies
381 Anophthalmia plus syndrome
382 Anophthalmos with limb anomalies
383 Anorchia
384 Anorectal atresia
385 Anotia facial palsy cardiac defect
386 Antecubital pterygium
387 Anterior pituitary insufficiency, familial
388 Anterior polar cataract 2

389 Anterior segment mesenchymal dysgenesis
390 Anterior spinal artery stroke
391 Anterior uveitis
392 Anthrax
393 Antigen-peptide-transporter 2 deficiency
394 Anti-HLA hyperimmunization
395 Antihypertensive drugs antenatal infection
396 Antiphospholipid syndrome
397 Anti-plasmin deficiency, congenital
398 Antisocial personality disorder
399 Antisynthetase syndrome
400 Antley Bixler syndrome
401 Anton's syndrome
402 Aorta-pulmonary artery fistula
403 Aortic aneurysm, familial thoracic 4
404 Aortic arch anomaly with peculiar facies and mental retardation
405 Aortic arch interruption
406 Aortic arches defect
407 Aortic coarctation
408 Aortic dissection lentiginosis
409 Aortic valve stenosis
410 Aortic valves stenosis of the child
411 Aortopulmonary window
412 Apert like polydactyly syndrome
413 Apert syndrome
414 Aphalangia partial with syndactyly and duplication of metatarsal
IV
415 Aphthous stomatitis
416 Aplasia cutis autosomal recessive
417 Aplasia cutis congenita
418 Aplasia cutis congenita dominant
419 Aplasia cutis congenita intestinal lymphangiectasia
420 Aplasia cutis congenita of limbs recessive
421 Aplasia cutis congenita recessive
422 Aplasia cutis myopia
423 Aplastic anemia
424 Apo A-I deficiency
425 Apolipoprotein C 2I deficiency
426 Apparent mineralocorticoid excess
427 Apraxia

428 APUDoma
429 Aquagenic pruritus
430 Aquagenic urticaria
431 Arachindonic acid, absence of
432 Arachnodactyly mental retardation dysmorphism
433 Arachnoid cysts
434 Arachnoiditis
435 Arakawa's syndrome 2
436 Arbovirosis
437 AREDYLD
438 Arena syndrome
439 Arginase deficiency
440 Argininosuccinic aciduria
441 Arhinia choanal atresia microphthalmia
442 Arnold Stickler Bourne syndrome
443 Aromatase deficiency
444 Aromatic amino acid decarboxylase deficiency
445 Arrhinia
446 Arrhythmogenic right ventricular dysplasia
447 Arroyo Garcia Cimadevilla syndrome
448 Arterial calcification of infancy
449 Arterial tortuosity syndrome
450 Arthritis short stature deafness
451 Arthrogryposis and ectodermal dysplasia
452 Arthrogryposis distal type 2B
453 Arthrogryposis due to muscular dystrophy
454 Arthrogryposis epileptic seizures migrational brain disorder
455 Arthrogryposis IUGR thoracic dystrophy
456 Arthrogryposis like disorder
457 Arthrogryposis multiplex congenita
458 Arthrogryposis multiplex congenita CNS calcification
459 Arthrogryposis multiplex congenita distal
460 Arthrogryposis multiplex congenita distal type 1
461 Arthrogryposis multiplex congenita neurogenic type
462 Arthrogryposis multiplex congenita pulmonary hypoplasia
463 Arthrogryposis multiplex congenita whistling face
464 Arthrogryposis multiplex congenita, distal type 2
465 Arthrogryposis multiplex congenita, distal, X-linked
466 Arthrogryposis multiplex with deafness, inguinal hernias, and
early death

467 Arthrogryposis renal dysfunction cholestasis syndrome
468 Arthrogryposis spinal muscular atrophy
469 Arthrogryposis, distal, type 2E
470 Arthrogryposis, distal, with hypopituitarism, mental retardation,
and facial anomalies
471 Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and
developmental delay
472 Arthrogryposis-like hand anomaly and sensorineural deafness
473 Arts syndrome
474 Asbestosis
475 Ascher's Syndrome
476 Asherman's syndrome
477 Aspartylglycosaminuria
478 Aspergillosis
479 Aspergillus niger infection
480 Asphyxia neonatorum
481 Asrar Facharzt Haque syndrome
482 Asternia
483 Asternia with Cardiac, Diaphragmatic, and Abdominal defects
484 Astley-Kendall syndrome
485 Astroblastoma
486 Ataxia telangiectasia
487 Ataxia telangiectasia variant V1
488 Ataxia with vitamin E deficiency
489 Atelosteogenesis type 1
490 Atelosteogenesis type 2
491 Atelosteogenesis type 3
492 Athabaskan brainstem dysgenesis
493 Athetosis
494 Atkin syndrome
495 Atlanto-Axial Fusion
496 Atransferrinemia
497 Atresia of small intestine
498 Atrial fibrillation familial
499 Atrial myxoma, familial
500 Atrial septal defect coronary sinus
501 Atrial septal defect ostium primum
502 Atrial septal defect ostium secundum
503 Atrial septal defect sinus venosus
504 Atrioventricular septal defect

505 Atrophoderma of Pierini and Pasini
506 Atrophodermia vermiculata
507 Attenuated familial adenomatous polyposis
508 Atypical hemolytic uremic syndrome
509 Atypical lipodystrophy
510 Atypical mycobacteriosis, familial
511 Atypical Rett syndrome
512 Auditory neuropathy
513 Auditory perceptual disorder
514 Auralcephalosyndactyly
515 Auriculo-condylar syndrome
516 Auriculoosteodysplasia
517 Ausems Wittebol-Post Hennekam syndrome
518 Autism with port-wine stain
519 Autoimmune enteropathy
520 Autoimmune hemolytic anemia
521 Autoimmune hepatitis
522 Autoimmune Inner Ear disease
523 Autoimmune lymphoproliferative syndrome
524 Autoimmune myocarditis
525 Autoimmune oophoritis
526 Autoimmune pancreatitis
527 Autoimmune polyglandular syndrome type 1
528 Autoimmune polyglandular syndrome type 2
529 Autoimmune polyglandular syndrome type 3
530 Autoimmune progesterone dermatitis
531 Autosomal dominant Alport syndrome
532 Autosomal dominant compelling helio ophthalmic outburst
syndrome
533 Autosomal dominant hyper IgE syndrome
534 Autosomal dominant neuronal ceroid lipofuscinosis 4B
535 Autosomal dominant optic atrophy, hearing loss, and peripheral
neuropathy
536 Autosomal dominant partial epilepsy with auditory features
537 Autosomal dominant pseudohypoaldosteronism type 1
538 Autosomal recessive Alport syndrome
539 Autosomal recessive cerebellar ataxia with cabc1/adck3 gene
mutations
540 Autosomal recessive hyper IgE syndrome
541 Autosomal recessive juvenile Parkinson disease

542 Autosomal recessive neuronal ceroid lipofuscinosis 4A
543 Autosomal recessive nonsyndromic congenital nuclear cataract
544 Autosomal recessive optic atrophy, hearing loss, and peripheral
neuropathy
545 Autosomal recessive polycystic kidney disease
546 Autosomal recessive pseudohypoaldosteronism type 1
547 Autosomal recessive spastic ataxia 4
548 Axenfeld-Rieger syndrome
549 Axenfeld-Rieger syndrome type 1
550 Axenfeld-Rieger syndrome type 2
551 Axenfeld-Rieger syndrome type 3
552 Axial mesodermal dysplasia spectrum
553 Axial osteomalacia
554 Axial osteosclerosis
555 Axial spondylometaphyseal dysplasia
556 Ayazi syndrome
557 B cell prolymphocytic leukemia
558 Babesiosis
559 Baby rattle pelvic dysplasia
560 Bacterial meningitis
561 Baetz-Greenwalt syndrome
562 Bagatelle Cassidy syndrome
563 Baker Vinters syndrome
564 Balantidiasis
565 Balkan endemic nephropathy
566 Baller-Gerold syndrome
567 Balo disease
568 Balo's concentric sclerosis
569 Bamforth syndrome
570 BANF acoustic neurinoma
571 Banki syndrome
572 Bannayan-Riley-Ruvalcaba syndrome
573 Banti's syndrome
574 Bantu siderosis
575 Baraitser Brett Piesowicz syndrome
576 Baraitser Rodeck Garner syndrome
577 Barakat syndrome
578 Barber Say syndrome
579 Bardet-Biedl syndrome
580 Bardet-Biedl syndrome 1

581 Bardet-Biedl syndrome 10
582 Bardet-Biedl syndrome 11
583 Bardet-Biedl syndrome 12
584 Bardet-Biedl syndrome 2
585 Bardet-Biedl syndrome 3
586 Bardet-Biedl syndrome 4
587 Bardet-Biedl syndrome 5
588 Bardet-Biedl syndrome 6
589 Bardet-Biedl syndrome 7
590 Bardet-Biedl syndrome 8
591 Bardet-Biedl syndrome 9
592 Bare lymphocyte syndrome
593 Bare lymphocyte syndrome 2
594 Baritosis
595 Barnicoat Baraitser syndrome
596 Baroreflex failure
597 Barraquer-Simons syndrome
598 Barth syndrome
599 Bartter syndrome
600 Bartter syndrome antenatal type 1
601 Bartter syndrome antenatal type 2
602 Bartter syndrome type 3
603 Bartter syndrome type 4
604 Basal cell carcinoma, infundibulocystic
605 Basal cell carcinoma, multiple
606 Basal cell nevus anodontia abnormal bone mineralization
607 Basal ganglia disease, biotin-responsive
608 Basaloid follicular hamartoma
609 Basan syndrome
610 Basaran Yilmaz syndrome
611 Basedow's coma
612 Basilar migraine
613 Bassoe syndrome
614 Battaglia Neri syndrome
615 Batten disease
616 Bazex-Dupre-Christol syndrome
617 Bazopoulou-Kyrkanidou syndrome
618 B-cell lymphomas
619 Bd syndrome
620 Beardwell syndrome

621 Becker muscular dystrophy
622 Becker nevus syndrome
623 Becker's nevus
624 Beckwith-Wiedemann syndrome
625 Bednar's tumor
626 Beemer Ertbruggen syndrome
627 Behcet's disease
628 Behr syndrome
629 Bejel
630 Bell's palsy
631 Ben Ari Shuper Mimouni syndrome
632 Benallegue Lacete syndrome
633 Benign angiitis of the central nervous system
634 Benign autosomal dominant myopathy
635 Benign eccrine spiradenoma
636 Benign familial infantile epilepsy
637 Benign familial neonatal-infantile seizures
638 Benign hyperphenylalaninemia
639 Benign metastasizing leiomyoma
640 Benign multicystic peritoneal mesothelioma
641 Benign paroxysmal positional vertigo
642 Benign recurrent intrahepatic cholestasis 1
643 Benign recurrent intrahepatic cholestasis 2
644 Benign rolandic epilepsy (BRE)
645 Bent bone dysplasia syndrome
646 Berger disease
647 Beriberi
648 Berk-Tabatznik syndrome
649 Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral
calcification
650 Berylliosis
651 Best vitelliform macular dystrophy
652 Best1 retinopathy
653 Beta ketothiolase deficiency
654 Beta-galactosidase-1 deficiency
655 Beta-sarcoglycanopathy
656 Beta-thalassemia
657 Bethlem myopathy
658 Beukes familial hip dysplasia
659 Bhaskar Jagannathan syndrome

660 Bidirectional tachycardia
661 Biemond syndrome
662 Biemond syndrome 2
663 Biemond syndrome type 1
664 Biermer disease
665 Bietti crystalline corneoretinal dystrophy
666 Bifid nose
667 Bifid nose with or without anorectal and renal anomalies
668 Bilateral frontal polymicrogyria
669 Bilateral frontoparietal polymicrogyria
670 Bilateral generalized polymicrogyria
671 Bilateral parasagittal parieto-occipital polymicrogyria
672 Bilateral perisylvian polymicrogyria
673 Bilateral renal agenesis dominant type
674 Bile acid synthesis defect, congenital, 1
675 Bile acid synthesis defect, congenital, 2
676 Bile acid synthesis defect, congenital, 4
677 Bile duct cancer
678 Bile duct cysts
679 Biliary atresia extrahepatic
680 Biliary atresia intrahepatic non syndromic form
681 Biliary atresia intrahepatic syndromic form
682 Biliary hypoplasia
683 Biliary tract cancer
684 Bilirubin induced brain injury in the newborn
685 Billet Bear syndrome
686 Binswanger's disease
687 Biotinidase deficiency
688 Bird headed dwarfism Montreal type
689 Bird-headed dwarfism with progressive ataxia, insulin-resistant
diabetes, goiter and primary gonadal insufficiency
690 Birdshot chorioretinopathy
691 Birk Barel mental retardation dysmorphism syndrome
692 Birt-Hogg-Dube syndrome
693 Bixler Christian Gorlin syndrome
694 Bjornstad syndrome
695 BK-virus nephropathy
696 Bladder cancer, childhood
697 Blaichman syndrome
698 Blastic plasmacytoid dendritic cell

699 Blastoma
700 Blastomycosis
701 Blau syndrome
702 Blepharo naso facial syndrome Van maldergem type
703 Blepharofacioskeletal syndrome
704 Blepharonasofacial malformation syndrome
705 Blepharophimosis
706 Blepharophimosis intellectual disability syndromes
707 Blepharophimosis with ptosis, syndactyly, and short stature
708 Blepharophimosis, ptosis, and epicanthus inversus syndrome type
1
709 Blepharophimosis, ptosis, and epicanthus inversus syndrome type
2
710 Blepharoptosis myopia ectopia lentis
711 Blepharospasm
712 Bloom syndrome
713 Blount disease
714 Blue cone monochromatism
715 Blue diaper syndrome
716 Blue rubber bleb nevus syndrome
717 Bobble-head doll syndrome
718 BOD syndrome
719 Boerhaave syndrome
720 Bone cancer
721 Bone dysplasia Azouz type
722 Bone dysplasia corpus callosum agenesis
723 Bone dysplasia lethal Holmgren type
724 Bone dysplasia Moore type
725 Book syndrome
726 Boomerang dysplasia
727 BOR-Duane hydrocephalus contiguous gene syndrome
728 Borjeson-Forssman-Lehmann syndrome
729 Bork Stender Schmidt syndrome
730 Borrone Di Rocco Crovato syndrome
731 Bothriocephalosis
732 Botulism
733 Boucher Neuhauser syndrome
734 Boudhina Yedes Khiari syndrome
735 Bourneville syndrome
736 Bow hunter's stroke

737 Bowen syndrome
738 Bowen-Conradi syndrome
739 Bowenoid papulosis
740 Bowen's disease
741 Bowing of legs, anterior with dwarfism
742 Bowing of long bones congenital
743 Boylan Dew Greco syndrome
744 Brachial amelia, forebrain defects and facial clefts
745 Brachioskeletogenital syndrome
746 Brachycephalofrontonasal dysplasia
747 Brachydactylous dwarfism Mseleni type
748 Brachydactyly absence of distal phalanges
749 Brachydactyly anonychia
750 Brachydactyly dwarfism mental retardation
751 Brachydactyly elbow wrist dysplasia
752 Brachydactyly long thumb type
753 Brachydactyly mesomelia mental retardation heart defects
754 Brachydactyly Mononen type
755 Brachydactyly preaxial with hallux varus and thumb abduction
756 Brachydactyly small stature face anomalies
757 Brachydactyly tibial hypoplasia
758 Brachydactyly type A1
759 Brachydactyly type A2
760 Brachydactyly type A3
761 Brachydactyly type A4
762 Brachydactyly type A5
763 Brachydactyly type A6
764 Brachydactyly type A7
765 Brachydactyly type B
766 Brachydactyly type C
767 Brachydactyly type E
768 Brachydactyly types B and E combined
769 Brachydactyly with hypertension
770 Brachymesomelia renal syndrome
771 Brachymesophalangy type 2
772 Brachymetapody anodontia hypotrichosis albinoidism
773 Brachyolmia
774 Brachyolmia type 1 Hobaek type
775 Brachyolmia type 3
776 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia

777 Braddock Jones Superneau syndrome
778 Brain stem cancer
779 Brain stem glioma, childhood
780 Brain tumor, adult
781 Brain tumor, childhood
782 Branchial arch defects
783 Branchial arch syndrome X-linked
784 Branchiooculofacial syndrome
785 Branchiootic syndrome
786 Branchiootorenal syndrome
787 Breast cancer, childhood
788 Breast cancer, male
789 Brenner tumor of ovary
790 Brenner tumor of the vagina
791 Brittle bone syndrome lethal type
792 Brittle cornea syndrome
793 Brody myopathy
794 Bronchial adenomas/carcinoids childhood
795 Bronchiectasis oligospermia
796 Bronchiolitis obliterans
797 Bronchiolitis obliterans organizing pneumonia
798 Bronchogenic cyst
799 Bronchopulmonary dysplasia
800 Brooke-Spiegler syndrome
801 Brooks Wisniewski Brown syndrome
802 Brown syndrome
803 Brown-Sequard syndrome
804 Brown-Vialetto-Van Laere syndrome
805 Brucellosis
806 Bruck syndrome 1
807 Bruck syndrome 2
808 Brugada syndrome
809 Brugada syndrome 3
810 Brugada syndrome 4
811 Brunoni syndrome
812 Brunsting-Perry syndrome
813 Bruyn Scheltens syndrome
814 Bubonic plague
815 Budd-Chiari syndrome
816 Buerger disease

817 Bullous dystrophy hereditary macular type
818 Bullous pemphigoid
819 Burkitt lymphoma
820 Burn Goodship syndrome
821 Burnett Schwartz Berberian syndrome
822 Burning mouth syndrome type 3
823 Burn-Mckeown syndrome
824 Buruli ulcer
825 Buschke Lowenstein tumor
826 Buschke Ollendorff syndrome
827 Bustos Simosa Pinto Cisternas syndrome
828 Byssinosis
829 C syndrome
830 CADASIL
831 Cafe au lait spots, multiple
832 Caffey disease
833 CAHMR syndrome
834 Calabro syndrome
835 Calcifying Epithelial Odontogenic Tumor
836 Calciphylaxis
837 California encephalitis
838 Calloso-genital dysplasia
839 Calvarial hyperostosis
840 Camera Marugo Cohen syndrome
841 Campomelia Cumming type
842 Campomelic dysplasia
843 Camptobrachydactyly
844 Camptocormism
845 Camptodactyly arthropathy coxa vara pericarditis syndrome
846 Camptodactyly joint contractures and facial skeletal dysplasia
847 Camptodactyly syndrome Guadalajara type 1
848 Camptodactyly syndrome Guadalajara type 2
849 Camptodactyly syndrome Guadalajara type 3
850 Camptodactyly taurinuria
851 Camptodactyly vertebral fusion
852 Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
853 Camptodactyly, tall stature, and hearing loss syndrome
854 Camptodactyly-ichthyosis syndrome
855 Camptomelic syndrome long limb type
856 Camurati Engelmann disease, type 2

857 Camurati-Engelmann disease
858 Canavan disease
859 Candida glabrata
860 Candidiasis familial chronic mucocutaneous, autosomal recessive
861 CANOMAD syndrome
862 Cantalamessa Baldini Ambrosi syndrome
863 Cantu Sanchez-Corona Fragoso syndrome
864 Cantu Sanchez-Corona Garcia-Cruz syndrome
865 Cantu Sanchez-Corona Hernandez syndrome
866 Cantu syndrome
867 Capillary hemangioblastoma
868 Carbamoyl phosphate synthetase 1 deficiency
869 Carbon baby syndrome
870 Carcinoid syndrome
871 Carcinoid tumor
872 Carcinoid tumor childhood
873 Carcinoma of the vocal tract
874 Carcinoma of unknown primary site, childhood
875 Cardiac diverticulum
876 Cardiac hydatid cysts with intracavitary expansion
877 Cardiac rupture
878 Cardiac valvular dysplasia, X-linked
879 Cardioauditory syndrome of Sanchez Cascos
880 Cardiocranial syndrome
881 Cardioencephalomyopathy
882 Cardiofacial syndrome short limbs
883 Cardiofaciocutaneous syndrome
884 Cardiomelic syndrome Stratton Koehler type
885 Cardiomyopathy and deafness due to tRNA lysine gene mutation
886 Cardiomyopathy cataract hip spine disease
887 Cardiomyopathy diabetes deafness
888 Cardiomyopathy dilated with conduction defect type 1
889 Cardiomyopathy dilated with conduction defect type 2
890 Cardiomyopathy dilated with woolly hair and keratoderma
891 Cardiomyopathy due to anthracyclines
892 Cardiomyopathy hypogonadism collagenoma syndrome
893 Cardiomyopathy hypogonadism metabolic anomalies
894 Cardiomyopathy spherocytosis
895 Cardiomyopathy, fatal fetal, due to myocardial calcification
896 Cardioskeletal syndrome Kuwaiti type

897 Cardiospasm
898 Carnevale Hernandez Castillo syndrome
899 Carnevale syndrome
900 Carney complex
901 Carney triad
902 Carnitine palmitoyl transferase 1 deficiency
903 Carnitine palmitoyltransferase 2 deficiency
904 Carnitine palmitoyltransferase I deficiency , muscle
905 Carnitine-acylcarnitine translocase deficiency
906 Carnosinemia
907 Caroli disease
908 Carotid body tumor
909 Carpal deformity migrognathia microstomia
910 Carpenter syndrome
911 Carpo tarsal osteolysis recessive
912 Carpotarsal osteochondromatosis
913 Carrington syndrome
914 Cartilage-hair hypoplasia
915 Cartilaginous cancer
916 Cartwright Nelson Fryns syndrome
917 Caspase-8 deficiency
918 Cassavism
919 Castleman's disease
920 Cat Eye syndrome
921 Cat scratch disease
922 Catamenial pneumothorax
923 Cataract and cardiomyopathy
924 Cataract and congenital ichthyosis
925 Cataract anterior polar dominant
926 Cataract ataxia deafness
927 Cataract congenital autosomal dominant
928 Cataract congenital dominant non nuclear
929 Cataract congenital Volkmann type
930 Cataract Hutterite type
931 Cataract hypertrichosis mental retardation
932 Cataract mental retardation hypogonadism
933 Cataract microcornea syndrome
934 Cataract microphthalmia septal defect
935 Cataract skeletal anomalies
936 Cataract, alopecia, sclerodactyly

937 Cataract, autosomal recessive congenital 2
938 Cataract, congenital, with microcornea or slight microphthalmia
939 Cataract, microphthalmia and nystagmus
940 Cataract, posterior polar, 1
941 Cataract, posterior polar, 3
942 Cataract, posterior polar, 4
943 Cataract, posterior polar, 5
944 Cataract, total congenital
945 Cataract, zonular
946 Cataract-glaucoma
947 Cataract-microcephaly-failure to thrive-kyphoscoliosis
948 Cataracts, ataxia, short stature, and mental retardation
949 Catastrophic antiphospholipid syndrome
950 Catatrichy
951 Catecholaminergic polymorphic ventricular tachycardia
952 Catel Manzke syndrome
953 Cauda equina syndrome
954 Caudal appendage deafness
955 Caudal duplication
956 Caudal regression syndrome
957 Cavernous lymphangioma
958 Ccge syndrome
959 CD3 deficiency
960 CD4 deficiency
961 CDG syndrome type 3
962 CDG syndrome type 4
963 CDK4 linked melanoma
964 Cennamo Gangemi syndrome
965 Central centrifugal cicatricial alopecia
966 Central core disease
967 Central nervous system lymphoma, primary
968 Central neurocytoma
969 Central post-stroke pain
970 Central serous chorioretinopathy
971 Cercarial Dermatitis
972 Cerebellar agenesis
973 Cerebellar astrocytoma, childhood
974 Cerebellar ataxia and hypogonadotropic hypogonadism
975 Cerebellar ataxia ectodermal dysplasia

976 Cerebellar ataxia infantile with progressive external
ophthalmoplegia
977 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and
sensorinural hearing loss
978 Cerebellar degeneration
979 Cerebellar degeneration, subacute
980 Cerebellar hypoplasia
981 Cerebellar hypoplasia tapetoretinal degeneration
982 Cerebellar hypoplasia with endosteal sclerosis
983 Cerebellar liponeurocytoma
984 Cerebello-olivary atrophy
985 Cerebelloparenchymal disorder 3
986 Cerebellum agenesis hydrocephaly
987 Cerebral astrocytoma, childhood
988 Cerebral autosomal recessive arteriopathy with subcortical
infarcts and leukoencephalopathy
989 Cerebral calcification cerebellar hypoplasia
990 Cerebral calcifications opalescent teeth phosphaturia
991 Cerebral cavernous malformation
992 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar
keratoderma syndrome
993 Cerebral folate deficiency
994 Cerebral gigantism jaw cysts
995 Cerebral palsy ataxic
996 Cerebral palsy athetoid
997 Cerebral palsy mixed
998 Cerebral palsy spastic diplegic
999 Cerebral palsy spastic hemiplegic
1000 Cerebral palsy spastic monoplegic
1001 Cerebral palsy spastic quadriplegic
1002 Cerebral sarcoma
1003 Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
1004 Cerebral ventricle cancer
1005 Cerebro facio thoracic dysplasia
1006 Cerebro-costo-mandibular syndrome
1007 Cerebrocostomandibular-like syndrome
1008 Cerebro-oculo-facio-skeletal syndrome
1009 Cerebrospinal fluid leak
1010 Cerebrotendinous xanthomatosis
1011 Ceroid lipofuscinosis neuronal 1

1012 Ceroid lipofuscinosis neuronal 10
1013 Ceroid lipofuscinosis neuronal 2
1014 Ceroid lipofuscinosis neuronal 5
1015 Ceroid lipofuscinosis neuronal 6
1016 Ceroid lipofuscinosis neuronal 7
1017 Ceroid lipofuscinosis neuronal 8
1018 Ceroid lipofuscinosis neuronal 9
1019 Ceroid storage disease
1020 Cerulean cataract
1021 Cervical dystonia
1022 Cervical hypertrichosis peripheral neuropathy
1023 Cervical intraepithelial neoplasia
1024 Cervical ribs, Sprengel anomaly, anal atresia, and urethral
obstruction
1025 Chagas disease
1026 Chanarin-Dorfman syndrome
1027 Chancroid
1028 CHAND syndrome
1029 Chandler's syndrome
1030 Chang Davidson Carlson syndrome
1031 Chaotic atrial tachycardia
1032 Char syndrome
1033 Charcot-Marie-Tooth disease
1034 Charcot-Marie-Tooth disease deafness recessive type
1035 Charcot-Marie-Tooth disease dominant intermediate 1
1036 Charcot-Marie-Tooth disease dominant intermediate 2
1037 Charcot-Marie-Tooth disease dominant intermediate 3
1038 Charcot-Marie-Tooth disease neuronal type A
1039 Charcot-Marie-Tooth disease neuronal type B
1040 Charcot-Marie-Tooth disease neuronal type D
1041 Charcot-Marie-Tooth disease type 1A
1042 Charcot-Marie-Tooth disease type 1B
1043 Charcot-Marie-Tooth disease type 1C
1044 Charcot-Marie-Tooth disease type 1D
1045 Charcot-Marie-Tooth disease type 1E
1046 Charcot-Marie-Tooth disease type 1F
1047 Charcot-Marie-Tooth disease type 2A
1048 Charcot-Marie-Tooth disease type 2B
1049 Charcot-Marie-Tooth disease type 2B1
1050 Charcot-Marie-Tooth disease type 2B2

1051 Charcot-Marie-Tooth disease type 2C
1052 Charcot-Marie-Tooth disease type 2D
1053 Charcot-Marie-Tooth disease type 2E
1054 Charcot-Marie-Tooth disease type 2F
1055 Charcot-Marie-Tooth disease type 2G
1056 Charcot-Marie-Tooth disease type 2H
1057 Charcot-Marie-Tooth disease type 2I
1058 Charcot-Marie-Tooth disease type 2J
1059 Charcot-Marie-Tooth disease type 2K
1060 Charcot-Marie-Tooth disease type 4A
1061 Charcot-Marie-Tooth disease type 4B1
1062 Charcot-Marie-Tooth disease type 4B2
1063 Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
1064 Charcot-Marie-Tooth disease type 4C
1065 Charcot-Marie-Tooth disease type 4E
1066 Charcot-Marie-Tooth disease with ptosis and parkinsonism
1067 Charcot-Marie-Tooth disease with pyramidal features, autosomal
dominant
1068 Charcot-Marie-Tooth disease X-linked 1
1069 Charcot-Marie-Tooth disease X-linked recessive 2
1070 Charcot-Marie-Tooth disease X-linked recessive 3
1071 Charcot-Marie-Tooth type 1 aplasia cutis congenita
1072 CHARGE syndrome
1073 Charles Bonnet syndrome
1074 Charlie M syndrome
1075 Chediak-Higashi syndrome
1076 Cheilitis glandularis
1077 Cherubism
1078 Chester porphyria
1079 Chiari malformation type 2
1080 Chiari malformation type 3
1081 Chiari malformation type 4
1082 Chiari-Frommel syndrome
1083 Chikungunya
1084 Chilaiditi syndrome
1085 CHILD syndrome
1086 Childhood disintegrative disorder
1087 Childhood-onset cerebral X-linked adrenoleukodystrophy
1088 Childhood-Onset Schizophrenia
1089 Children's interstitial lung disease

1090 Chitayat Meunier Hodgkinson syndrome
1091 Chitty Hall Webb syndrome
1092 Cholecystitis
1093 Cholera
1094 Cholestasis, progressive familial intrahepatic 1
1095 Cholestasis, progressive familial intrahepatic 2
1096 Cholestasis, progressive familial intrahepatic 3
1097 Cholestasis, progressive familial intrahepatic 4
1098 Cholesteatoma
1099 Cholesterol pneumonia
1100 Chondroblastoma
1101 Chondrocalcinosis 1
1102 Chondrocalcinosis 2
1103 Chondrocalcinosis due to apatite crystal deposition
1104 Chondrodysplasia
1105 Chondrodysplasia acromesomelic with genital anomalies
1106 Chondrodysplasia Blomstrand type
1107 Chondrodysplasia calcificans metaphysealis
1108 Chondrodysplasia lethal recessive
1109 Chondrodysplasia punctata 1, X-linked recessive
1110 Chondrodysplasia punctata 2 X-linked dominant
1111 Chondrodysplasia punctata Sheffield type
1112 Chondrodysplasia punctata syndrome
1113 Chondrodysplasia punctata with steroid sulfatase deficiency
1114 Chondrodysplasia punctata, humero-metacarpal type
1115 Chondrodysplasia situs inversus imperforate anus polydactyly
1116 Chondrodysplasia, Grebe type
1117 Chondrodystrophy
1118 Chondroma
1119 Chondrosarcoma
1120 Chordoid glioma of the third ventricle
1121 Chordoma
1122 Chorea familial benign
1123 Chorea minor
1124 Chorea, remitting with nystagmus and cataracts
1125 Choreoacanthocytosis
1126 Choreoacanthocytosis amyotrophic
1127 Choriocarcinoma
1128 Chorioretinitis
1129 Chorioretinopathy dominant form microcephaly

1130 Choroid plexus calcification with mental retardation
1131 Choroid plexus carcinoma
1132 Choroid plexus cyst
1133 Choroid plexus papilloma
1134 Choroidal dystrophy central areolar
1135 Choroideremia
1136 Choroideremia hypopituitarism
1137 Choroiditis
1138 Christian Demyer Franken syndrome
1139 Christian Johnson Angenieta syndrome
1140 Christianson syndrome
1141 Chromhidrosis
1142 Chromomycosis
1143 Chromophil renal cell carcinoma
1144 Chromophobe renal cell carcinoma
1145 Chromosomal triplication
1146 Chromosome 1, uniparental disomy 1q12 q21
1147 Chromosome 10, uniparental disomy
1148 Chromosome 10p deletion
1149 Chromosome 10p duplication
1150 Chromosome 10q deletion
1151 Chromosome 10q duplication
1152 Chromosome 11p deletion
1153 Chromosome 11p duplication
1154 Chromosome 11q deletion
1155 Chromosome 11q duplication
1156 Chromosome 12p deletion
1157 Chromosome 12p duplication
1158 Chromosome 12q deletion
1159 Chromosome 12q duplication
1160 Chromosome 13q deletion
1161 Chromosome 13q duplication
1162 Chromosome 14q deletion
1163 Chromosome 14q duplication
1164 Chromosome 15, trisomy mosaicism
1165 Chromosome 15q deletion
1166 Chromosome 15q duplication
1167 Chromosome 15q25.2 deletion
1168 Chromosome 16 trisomy
1169 Chromosome 16, uniparental disomy

1170 Chromosome 16p deletion
1171 Chromosome 16p duplication
1172 Chromosome 16p13.3 deletion syndrome
1173 Chromosome 16p13.3 duplication
1174 Chromosome 16q deletion
1175 Chromosome 16q duplication
1176 Chromosome 17p deletion
1177 Chromosome 17p duplication
1178 Chromosome 17p13.1 deletion syndrome
1179 Chromosome 17q deletion
1180 Chromosome 17q duplication
1181 Chromosome 18p deletion syndrome
1182 Chromosome 18p duplication
1183 Chromosome 18p tetrasomy
1184 Chromosome 18q duplication
1185 Chromosome 19p deletion
1186 Chromosome 19p duplication
1187 Chromosome 19q deletion
1188 Chromosome 19q duplication
1189 Chromosome 19q13.11 deletion syndrome
1190 Chromosome 1p deletion
1191 Chromosome 1p duplication
1192 Chromosome 1p36 deletion syndrome
1193 Chromosome 1q deletion
1194 Chromosome 1q duplication
1195 Chromosome 1q21.1 duplication syndrome
1196 Chromosome 1q41-q42 deletion syndrome
1197 Chromosome 20 trisomy
1198 Chromosome 20p deletion
1199 Chromosome 20p duplication
1200 Chromosome 20q deletion
1201 Chromosome 20q duplication
1202 Chromosome 21, uniparental disomy
1203 Chromosome 21q deletion
1204 Chromosome 21q duplication
1205 Chromosome 22q deletion
1206 Chromosome 22q duplication
1207 Chromosome 2p deletion
1208 Chromosome 2p duplication
1209 Chromosome 2q deletion

1210 Chromosome 2q duplication
1211 Chromosome 2q24 microdeletion syndrome
1212 Chromosome 3, trisomy 3q
1213 Chromosome 3p deletion
1214 Chromosome 3p duplication
1215 Chromosome 3q deletion
1216 Chromosome 3q29 microduplication syndrome
1217 Chromosome 4p deletion
1218 Chromosome 4p duplication
1219 Chromosome 4q deletion
1220 Chromosome 4q duplication
1221 Chromosome 5, uniparental disomy
1222 Chromosome 5p deletion
1223 Chromosome 5p duplication
1224 Chromosome 5q deletion
1225 Chromosome 5q duplication
1226 Chromosome 6p deletion
1227 Chromosome 6p duplication
1228 Chromosome 6q deletion
1229 Chromosome 6q duplication
1230 Chromosome 6q25 microdeletion syndrome
1231 Chromosome 7p deletion
1232 Chromosome 7p duplication
1233 Chromosome 7q deletion
1234 Chromosome 7q duplication
1235 Chromosome 8p deletion
1236 Chromosome 8p duplication
1237 Chromosome 8p23.1 deletion
1238 Chromosome 8q deletion
1239 Chromosome 8q duplication
1240 Chromosome 9p deletion
1241 Chromosome 9p duplication
1242 Chromosome 9q deletion
1243 Chromosome 9q duplication
1244 Chromosome Xp deletion
1245 Chromosome Xp22 deletion syndrome
1246 Chromosome Xq duplication
1247 Chromosome Xq28 deletion syndrome
1248 Chronic active Epstein-Barr virus infection

1249 Chronic atypical neutrophilic dermatosis with lipodystrophy and
elevated temperature
1250 Chronic berylliosis
1251 Chronic demyelinizing neuropathy with IgM monoclonal
1252 Chronic erosive gastritis
1253 Chronic graft versus host disease
1254 Chronic granulomatous disease
1255 Chronic hiccups
1256 Chronic Infantile Neurological Cutaneous Articular syndrome
1257 Chronic inflammatory demyelinating polyneuropathy
1258 Chronic lymphocytic inflammation with pontine perivascular
enhancement responsive to steroids
1259 Chronic lymphocytic leukemia
1260 Chronic myeloid leukemia
1261 Chronic myelomonocytic leukemia
1262 Chronic myeloproliferative disorders
1263 Chronic neutrophilic leukemia
1264 Chronic polyradiculoneuritis
1265 Chronic progressive external ophthalmoplegia
1266 Chronic recurrent multifocal osteomyelitis
1267 Chudley Rozdilsky syndrome
1268 Chudley-Mccullough syndrome
1269 Churg Strauss syndrome
1270 Chylomicron retention disease
1271 Chylothorax, congenital
1272 Chylous ascites
1273 Cicatricial pemphigoid
1274 Ciguatera fish poisoning
1275 Ciliary discoordination, due to random ciliary orientation
1276 Ciliary dyskinesia with excessively long cilia
1277 Ciliary dyskinesia, due to transposition of ciliary microtubules
1278 Ciliary dyskinesia-bronchiectasis
1279 Circumscribed cutaneous aplasia of the vertex
1280 Circumscribed disseminated keratosis Jadassohn Lew type
1281 Citrulline transport defect
1282 Citrullinemia type I
1283 Clark-Baraitser syndrome
1284 Clasped thumbs, congenital
1285 Classic Kaposi sarcoma
1286 Clear cell renal cell carcinoma

1287 Cleft hand absent tibia
1288 Cleft lip and palate malrotation cardiopathy
1289 Cleft lip and/or palate with mucous cysts of lower
1290 Cleft lip palate dysmorphism Kumar type
1291 Cleft lip palate mental retardation corneal opacity
1292 Cleft lip palate oligodontia syndactyly pili torti
1293 Cleft lip palate pituitary deficiency
1294 Cleft lip palate-tetraphocomelia
1295 Cleft lower lip cleft lateral canthi chorioretinal
1296 Cleft palate cardiac defect ectrodactyly
1297 Cleft palate colobomata radial synostosis deafness
1298 Cleft palate heart disease polydactyly absent tibia
1299 Cleft palate lateral synechia syndrome
1300 Cleft palate short stature vertebral anomalies
1301 Cleft palate stapes fixation oligodontia
1302 Cleft palate X-linked
1303 Cleft palate, midfacial hypoplasia, triangular facies, and
sensorineural hearing loss
1304 Cleft tongue syndrome
1305 Cleft upper lip median cutaneous polyps
1306 Cleidocranial dysplasia
1307 Cleidocranial dysplasia recessive form
1308 Cleidorhizomelic syndrome
1309 C-like syndrome
1310 Cloacal exstrophy
1311 Clostridium difficile
1312 Clostridium sordellii
1313 CLOVES syndrome
1314 Cluster headache
1315 Cluttering
1316 CMV antenatal infection
1317 COACH syndrome
1318 Coal worker's pneumoconiosis
1319 Coarctation of aorta dominant
1320 Coarse face hypotonia constipation
1321 Coats disease
1322 Cocaine antenatal infection
1323 Coccidioidomycosis
1324 Coccygodynia

1325 Cochleosaccular degeneration of the inner ear and progressive
cataracts
1326 Cockayne syndrome
1327 Cockayne syndrome type I
1328 Cockayne syndrome type II
1329 Cockayne syndrome type III
1330 CODAS syndrome
1331 Coenzyme Q cytochrome c reductase deficiency of
1332 Coenzyme Q10 deficiency
1333 Coffin syndrome 1
1334 Coffin-Lowry syndrome
1335 Coffin-Siris syndrome
1336 Cogan-Reese syndrome
1337 Cogan's syndrome
1338 Cohen Hayden syndrome
1339 Cohen Lockood Wyborney syndrome
1340 Cohen syndrome
1341 Cold agglutinin disease
1342 Cold contact urticaria
1343 Cole Carpenter syndrome
1344 Collagenopathy type 2 alpha 1
1345 Collagenous colitis
1346 Collagenous gastritis
1347 Collecting duct carcinoma
1348 Collins Pope syndrome
1349 Collins Sakati syndrome
1350 Colloid cysts of third ventricle
1351 Coloboma chorioretinal cerebellar vermis aplasia
1352 Coloboma of alar-nasal cartilages with telecanthus
1353 Coloboma of eye lens
1354 Coloboma of iris
1355 Coloboma of macula
1356 Coloboma of macula with type B brachydactyly
1357 Coloboma of optic nerve
1358 Coloboma of optic papilla
1359 Coloboma porencephaly hydronephrosis
1360 Coloboma, cleft lip/palate and mental retardation syndrome
1361 Colobomata unilobar lung heart defect
1362 Colobomatous microphthalmia heart disease hearing
1363 Colonic atresia

1364 Colonic malakoplakia
1365 Colorectal cancer, childhood
1366 Colpocephaly
1367 Colver Steer Godman syndrome
1368 Combarros Calleja Leno syndrome
1369 Combined malonic and methylmalonic aciduria
1370 Common variable immunodeficiency
1371 Compartment syndrome
1372 Complement component 2 deficiency
1373 Complement component 8 deficiency type 1
1374 Complement component 8 deficiency type 2
1375 Complement component deficiency
1376 Complement component receptor 1
1377 Complement receptor deficiency
1378 Complete androgen insensitivity syndrome
1379 Complete atrioventricular canal
1380 Complex regional pain syndrome
1381 Condensing osteitis of the clavicle
1382 Conductive deafness with malformed external ear
1383 Cone dystrophy X-linked with tapetal-like sheen
1384 Cone-rod dystrophy
1385 Cone-rod dystrophy 1
1386 Cone-rod dystrophy 2
1387 Cone-rod dystrophy 3
1388 Cone-rod dystrophy 5
1389 Cone-rod dystrophy 6
1390 Cone-rod dystrophy amelogenesis imperfecta
1391 Cone-rod dystrophy X-linked 1
1392 Cone-rod dystrophy X-linked 2
1393 Cone-rod dystrophy X-linked 3
1394 Congenital absence of the sternocleidomastoid muscle
1395 Congenital adrenal hyperplasia
1396 Congenital alopecia X-linked
1397 Congenital amegakaryocytic thrombocytopenia
1398 Congenital amputation
1399 Congenital aneurysms of the great vessels
1400 Congenital anosmia
1401 Congenital antithrombin deficiency
1402 Congenital antithrombin deficiency type 2
1403 Congenital antithrombin deficiency type 3

1404 Congenital aplastic anemia
1405 Congenital arteriovenous shunt
1406 Congenital articular rigidity
1407 Congenital benign spinal muscular atrophy dominant
1408 Congenital bilateral absence of the vas deferens
1409 Congenital bronchobiliary fistula
1410 Congenital cardiovascular shunt
1411 Congenital central hypoventilation syndrome
1412 Congenital chloride diarrhea
1413 Congenital contractural arachnodactyly
1414 Congenital contractures
1415 Congenital craniosynostosis maternal hyperthyroiditis
1416 Congenital cystic eye
1417 Congenital cystic eye multiple ocular and intracranial anomalies
1418 Congenital cytomegalovirus
1419 Congenital diaphragmatic hernia
1420 Congenital dislocation of the patella
1421 Congenital disorder of glycosylation type 1A
1422 Congenital disorder of glycosylation type 1B
1423 Congenital disorder of glycosylation type 1C
1424 Congenital disorder of glycosylation type 1D
1425 Congenital disorder of glycosylation type 1E
1426 Congenital disorder of glycosylation type 1F
1427 Congenital disorder of glycosylation type 1G
1428 Congenital disorder of glycosylation type 1H
1429 Congenital disorder of glycosylation type 1I
1430 Congenital disorder of glycosylation type 1J
1431 Congenital disorder of glycosylation type 1K
1432 Congenital disorder of glycosylation type 1L
1433 Congenital disorder of glycosylation type 2A
1434 Congenital disorder of glycosylation type 2B
1435 Congenital disorder of glycosylation type 2C
1436 Congenital disorder of glycosylation type 2D
1437 Congenital disorder of glycosylation type 2E
1438 Congenital disorder of glycosylation type 2G
1439 Congenital disorder of glycosylation type I/IIX
1440 Congenital disorder of glycosylation type IIL
1441 Congenital disorders of glycosylation
1442 Congenital dyserythropoietic anemia
1443 Congenital dyserythropoietic anemia type 1

1444 Congenital dyserythropoietic anemia type 2
1445 Congenital dyserythropoietic anemia type 3
1446 Congenital ectodermal dysplasia with hearing loss
1447 Congenital extrahepatic portosystemic shunt
1448 Congenital fiber type disproportion
1449 Congenital generalized fibromatosis
1450 Congenital generalized lipodystrophy type 1
1451 Congenital generalized lipodystrophy type 2
1452 Congenital generalized lipodystrophy type 4
1453 Congenital giant megaureter
1454 Congenital heart block
1455 Congenital heart disease ptosis hypodontia craniostosis
1456 Congenital heart disease radio ulnar synostosis mental retardation
1457 Congenital hemolytic anemia
1458 Congenital hepatic fibrosis
1459 Congenital herpes simplex
1460 Congenital human immunodeficiency virus
1461 Congenital hypomyelination neuropathy
1462 Congenital hypothyroidism
1463 Congenital hypotrichosis milia
1464 Congenital ichthyosis, microcephalus, quadriplegia
1465 Congenital insensitivity to pain with anhidrosis
1466 Congenital lipoid adrenal hyperplasia
1467 Congenital lobar emphysema
1468 Congenital megalo-ureter
1469 Congenital mesoblastic nephroma
1470 Congenital mitral malformation
1471 Congenital mitral stenosis
1472 Congenital mixovirus
1473 Congenital mumps
1474 Congenital muscular dystrophy
1475 Congenital muscular dystrophy syringomyelia
1476 Congenital muscular dystrophy type 1A
1477 Congenital myasthenic syndrome associated with acetylcholine
receptor deficiency
1478 Congenital myasthenic syndrome with episodic apnea
1479 Congenital myotonic dystrophy
1480 Congenital nephrotic syndrome Finnish type
1481 Congenital nonhemolytic jaundice

1482 Congenital nonprogressive myopathy with Moebius and Robin
sequences
1483 Congenital porphyria
1484 Congenital primary aphakia
1485 Congenital pseudoarthrosis
1486 Congenital pulmonary alveolar proteinosis
1487 Congenital pulmonary lymphangiectasia
1488 Congenital radio-ulnar synostosis
1489 Congenital rubella
1490 Congenital short femur
1491 Congenital stenosis of cervical medullary canal
1492 Congenital sucrase-isomaltase deficiency
1493 Congenital sucrose isomaltose malabsorption
1494 Congenital torticollis
1495 Congenital tracheomalacia
1496 Congenital unilateral pulmonary hypoplasia
1497 Congenital vagal hyperreflexivity
1498 Congenital varicella syndrome
1499 Congenitally corrected transposition of the great arteries
1500 Conjunctival melanoma
1501 Conjunctivitis ligneous
1502 Conjunctivitis with Pseudomembrane
1503 Connective tissue dysplasia Spellacy type
1504 Conn's syndrome
1505 Conotruncal heart malformations
1506 Continuous muscle fiber activity hereditary
1507 Continuous spike-wave during slow sleep syndrome
1508 Conversion disorder
1509 Convulsions benign familial neonatal dominant form
1510 Convulsions, benign familial infantile, 1
1511 Copper deficiency, familial benign
1512 CoQ-responsive OXPHOS deficiency
1513 Cor biloculare
1514 Cor triatriatum
1515 Cormier Rustin Munnich syndrome
1516 Cornea guttata with anterior polar cataract
1517 Corneal anesthesia deafness mental retardation
1518 Corneal crystals myopathy neuropathy
1519 Corneal dystrophy and perceptive deafness
1520 Corneal dystrophy Avellino type

1521 Corneal dystrophy crystalline of Schnyder
1522 Corneal dystrophy Fuchs endothelial 1
1523 Corneal dystrophy ichthyosis microcephaly mental retardation
1524 Corneal dystrophy of Bowman layer type 1
1525 Corneal dystrophy pigmentary anomaly malabsorption
1526 Corneal dystrophy Thiel Behnke type
1527 Corneal endothelial dystrophy type 2
1528 Corneal hypesthesia, familial
1529 Cornelia de Lange syndrome
1530 Corneodermatoosseous syndrome
1531 Coronal synostosis, syndactyly and jejunal atresia
1532 Coronaro-cardiac fistula
1533 Coronary arteries congenital malformation
1534 Coronary artery aneurysm
1535 Corpus callosum agenesis
1536 Corpus callosum agenesis double urinary collecting
1537 Corpus callosum agenesis of blepharophimosis Robin type
1538 Corpus callosum dysgenesis cleft spasm
1539 Corpus callosum dysgenesis hypopituitarism
1540 Corpus callosum dysgenesis X-linked recessive
1541 Cortada Koussef Matsumoto syndrome
1542 Cortes Lacassie syndrome
1543 Cortical blindness mental retardation polydactyly
1544 Cortical defects wormian bones and dentinogenesis imperfecta
1545 Corticobasal degeneration
1546 Corticosteroid-sensitive aseptic abscesses
1547 Cortisone reductase deficiency
1548 Costello syndrome
1549 Costocoracoid ligament congenitally short
1550 Cote Katsantoni syndrome
1551 Cough headache
1552 Cousin syndrome
1553 Cowchock syndrome
1554 Cowden syndrome
1555 Coxa vara, congenital
1556 Coxoauricular syndrome
1557 Cramp-fasciculation syndrome
1558 Crandall syndrome
1559 Crane-Heise syndrome
1560 Cranio osteoarthropathy

1561 Cranioacrofacial syndrome
1562 Craniodiaphyseal dysplasia
1563 Craniodigital syndrome mental retardation
1564 Cranioectodermal dysplasia
1565 Craniofacial and skeletal defects
1566 Craniofacial deafness hand syndrome
1567 Craniofacial dysostosis arthrogryposis progeroid appearence
1568 Craniofacial dysostosis with diaphyseal hyperplasia
1569 Craniofacial dyssynostosis
1570 Craniofacial dystonia
1571 Craniofrontonasal dysplasia
1572 Craniofrontonasal syndrome Teebi type
1573 Craniometaphyseal dysplasia, autosomal dominant
1574 Craniometaphyseal dysplasia, autosomal recessive type
1575 Craniomicromelic syndrome
1576 Craniopharyngioma
1577 Craniorachischisis
1578 Craniostenosis cataract
1579 Craniostenosis with congenital heart disease mental retardation
1580 Craniosynostosis
1581 Craniosynostosis alopecia brain defect
1582 Craniosynostosis arthrogryposis cleft palate
1583 Craniosynostosis autosomal dominant
1584 Craniosynostosis cleft lip palate arthrogryposis
1585 Craniosynostosis contractures cleft
1586 Craniosynostosis exostoses nevus epibulbar dermoid
1587 Craniosynostosis Fontaine type
1588 Craniosynostosis Maroteaux Fonfria type
1589 Craniosynostosis mental retardation clefting syndrome
1590 Craniosynostosis mental retardation heart defects
1591 Craniosynostosis Philadelphia type
1592 Craniosynostosis, anal anomalies, and porokeratosis
1593 Craniosynostosis-mental retardation syndrome of Lin and Gettig
1594 Craniotelencephalic dysplasia
1595 Crawfurd syndrome
1596 Creeping myiasis
1597 Cretinism athyreotic
1598 Creutzfeldt-Jakob disease
1599 Cri du chat syndrome
1600 Crigler Najjar syndrome, type 1

1601 Crigler Najjar syndrome, type 2
1602 Crisponi syndrome
1603 Crohn's disease of the esophagus
1604 Crome syndrome
1605 Cronkhite-Canada disease
1606 Crossed polydactyly type 1
1607 Crossed polysyndactyly
1608 Crouzon syndrome
1609 Crumpled helices and small mouth
1610 Cryofibrinogenemia
1611 Cryoglobulinemia
1612 Cryoglobulinemia, familial mixed
1613 Cryopyrin-associated periodic syndrome
1614 Cryptococcosis
1615 Cryptogenic organizing pneumonia
1616 Cryptomicrotia brachydactyly syndrome
1617 Cryptophthalmos
1618 Cryptorchidism arachnodactyly mental retardation
1619 Cryptosporidiosis
1620 Curly hair-acral keratoderma-caries syndrome
1621 Currarino triad
1622 Curry Jones syndrome
1623 Cushing syndrome, familial
1624 Cushing's symphalangism
1625 Cushing's syndrome
1626 Cutaneous anthrax
1627 Cutaneous larva migrans
1628 Cutaneous lupus erythematosus
1629 Cutaneous mastocytosis
1630 Cutaneous necrotizing vasculitis
1631 Cutaneous photosensitivity and colitis, lethal
1632 Cutaneous polyarteritis nodosa
1633 Cutaneous sclerosis
1634 Cutaneous T-cell lymphoma
1635 Cutis Gyrata syndrome of Beare and Stevenson
1636 Cutis gyratum acanthosis nigricans craniosynostosis
1637 Cutis laxa
1638 Cutis laxa osteoporosis
1639 Cutis laxa, autosomal dominant
1640 Cutis laxa, autosomal recessive type 1

1641 Cutis laxa, autosomal recessive type 2A
1642 Cutis laxa, autosomal recessive type 2B
1643 Cutis marmorata telangiectatica congenita
1644 Cutis verticis gyrata
1645 Cutis verticis gyrata mental deficiency
1646 Cutler Bass Romshe syndrome
1647 Cyclic neutropenia
1648 Cyclic thrombocytopenia
1649 Cyclic vomiting syndrome
1650 Cyclosporiasis
1651 Cyprus facial neuromusculoskeletal syndrome
1652 Cystic adenomatoid malformation of lung
1653 Cystic fibrosis
1654 Cystic hygroma
1655 Cystic hygroma lethal cleft palate
1656 Cystic medial necrosis of aorta
1657 Cysticercosis
1658 Cystinosis
1659 Cystinosis, ocular nonnephropathic
1660 Cystinuria
1661 Cystosarcoma phyllodes
1662 Cytokine deficiency
1663 Cytokine receptor deficiency
1664 Cytomegalic inclusion disease
1665 Cytomegalovirus retinitis
1666 Cytoplasmic body myopathy
1667 Czech dysplasia metatarsal type
1668 D ercole syndrome
1669 D-2-alpha hydroxyglutaric aciduria
1670 Daentl Towsend Siegel syndrome
1671 Dahlberg Borer Newcomer syndrome
1672 Daish Hardman Lamont syndrome
1673 Dancing eyes-dancing feet syndrome
1674 Dandy-Walker complex
1675 Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
1676 Dandy-Walker like malformation with atrioventricular septal
defect
1677 Dandy-Walker malformation associated with macrocephaly, facial
anomalies, developmental delay, and brain stem dysgenesis
1678 Dandy-Walker malformation with facial hemangioma

1679 Dandy-Walker malformation with mental retardation basal
ganglia disease and seizures
1680 Dandy-Walker malformation with mental retardation,
macrocephaly, myopia and brachytelephalangy
1681 Dandy-Walker malformation with nasopharyngeal teratoma and
diaphragmatic hernia
1682 Dandy-Walker malformation with postaxial polydactyly
1683 Dandy-Walker malformation with sagittal craniosynostosis and
hydrocephalus
1684 Daneman Davy Mancer syndrome
1685 Danon disease
1686 Darier disease
1687 Dauwerse-Peters syndrome
1688 Davenport Donlan syndrome
1689 Davis Lafer syndrome
1690 D-bifunctional protein deficiency
1691 De Barsy syndrome
1692 De Quervain's disease
1693 De Sanctis-Cacchione syndrome
1694 Deafness conductive ptosis skeletal anomalies
1695 Deafness conductive stapedial ear malformation facial palsy
1696 Deafness craniofacial syndrome
1697 Deafness enamel hypoplasia nail defects
1698 Deafness goiter stippled epiphyses
1699 Deafness hyperuricemia neurologic ataxia
1700 Deafness hypogonadism syndrome
1701 Deafness hypospadias metacarpal and metatarsal syndrome
1702 Deafness mesenteric diverticula of small bowel neuropathy
1703 Deafness mixed with perilymphatic Gusher, X-linked
1704 Deafness nephritis anorectal malformation
1705 Deafness oligodontia syndrome
1706 Deafness onychodystrophy dominant form
1707 Deafness onychodystrophy osteodystrophy and mental retardation
syndrome
1708 Deafness peripheral neuropathy arterial disease
1709 Deafness progressive cataract autosomal dominant
1710 Deafness vitiligo achalasia
1711 Deafness with labyrinthine aplasia microtia and microdontia
(LAMM)
1712 Deafness X-linked, DFN3

1713 Deafness, autosomal dominant nonsyndromic sensorineural 17
1714 Deafness, autosomal dominant nonsyndromic sensorineural 22
1715 Deafness, autosomal dominant nonsyndromic sensorineural 23
1716 Deafness, autosomal dominant nonsyndromic sensorineural 24
1717 Deafness, autosomal dominant nonsyndromic sensorineural 3
1718 Deafness, autosomal dominant nonsyndromic sensorineural 53
1719 Deafness, autosomal recessive 51
1720 Deafness, autosomal recessive 55
1721 Deafness, epiphyseal dysplasia, short stature
1722 Deafness, isolated, due to mitochondrial transmission
1723 Deafness, neurosensory nonsyndromic recessive, DFN
1724 Deafness, neurosensory, autosomal recessive 47
1725 Deafness, progressive with stapes fixation
1726 Deafness, X-linked 2
1727 Deafness, X-linked, DFN
1728 Deal Barratt Dillon syndrome
1729 Defective apolipoprotein B-100
1730 Deficiency of interleukin-1 receptor antagonist
1731 Degos disease
1732 Degos 'en cocarde' erythrokeratoderma
1733 Dehydrated hereditary stomatocytosis
1734 Dehydrated hereditary stomatocytosis pseudohyperkalemia and
perinatal edema
1735 Delayed membranous cranial ossification
1736 Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
1737 Delta-sarcoglycanopathy
1738 Dementia familial British
1739 Dementia, familial Danish
1740 Demodicidosis
1741 Dendritic cell, monocyte, B lymphocyte, and natural killer
lymphocyte deficiency
1742 Dengue fever
1743 Dennis Fairhurst Moore syndrome
1744 Dens in dente and palatal invaginations
1745 Dent disease 1
1746 Dent disease 2
1747 Dentatorubral-pallidoluysian atrophy
1748 Dentin dysplasia sclerotic bones
1749 Dentin dysplasia, coronal
1750 Dentin dysplasia, type 1

1751 Dentinogenesis imperfecta 1
1752 Dentinogenesis imperfecta Shields type 3
1753 Denys-Drash syndrome
1754 Depersonalization disorder
1755 Der Kaloustian Mcintosh Silver syndrome
1756 Dermal eccrine cylindroma
1757 Dermatitis herpetiformis familial
1758 Dermatocardioskeletal syndrome Boronne type
1759 Dermatofibroma
1760 Dermatofibrosarcoma protuberans
1761 Dermatoleukodystrophy
1762 Dermatomyositis
1763 Dermatoosteolysis Kirghizian type
1764 Dermatopathia pigmentosa reticularis
1765 Dermochondrocorneal dystrophy of François
1766 Dermoids of cornea
1767 Dermoodontodysplasia
1768 Desbuquois syndrome
1769 Desmoid disease, hereditary
1770 Desmoid tumor
1771 Desmoplastic infantile astrocytoma
1772 Desmoplastic infantile ganglioglioma
1773 Desmoplastic small round cell tumor
1774 Desmosterolosis
1775 Developmental dysphasia familial
1776 Devic disease
1777 Devriendt syndrome
1778 Dextrocardia
1779 Dextrocardia with situs inversus
1780 Dextrocardia with unusual facies and microphthalmia
1781 DFNB1
1782 D-glycericacidemia
1783 Di Guglielmo's syndrome
1784 Diabetes hypogonadism deafness mental retardation
1785 Diabetes insipidus nephrogenic mental retardation and
intracerebral calcification
1786 Diabetes persistent mullerian ducts
1787 Diabetes-deafness syndrome, maternally transmitted
1788 Diabetic mastopathy
1789 Diamond-Blackfan anemia

1790 Diamond-Blackfan anemia 2
1791 Diamond-Blackfan anemia 3
1792 Dianzani autoimmune lymphoproliferative syndrome
1793 Diaphragmatic agenesis radial aplasia omphalocele
1794 Diaphragmatic hernia exomphalos corpus callosum agenesis
1795 Diaphragmatic hernia upper limb defects
1796 Diaphyseal medullary stenosis with malignant fibrous
histiocytoma
1797 Diastematomyelia
1798 Diastrophic dysplasia
1799 Dibasic aminoaciduria 1
1800 Dibasic aminoaciduria 2
1801 Dicarboxylic aminoaciduria
1802 DICER1-related pleuropulmonary blastoma cancer predisposition
syndrome
1803 Die Smulders Droog Van Dijk syndrome
1804 Die Smulders Vles Fryns syndrome
1805 Diencephalic syndrome
1806 Dieterich's disease
1807 Diethylstilbestrol antenatal infection
1808 Dieulafoy lesion
1809 Diffuse astrocytoma
1810 Diffuse cavernous hemangioma of the rectum
1811 Diffuse dermal angiomatosis
1812 Diffuse gastric cancer
1813 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
1814 Diffuse mesangial sclerosis
1815 Diffuse neonatal hemangiomatosis
1816 Diffuse palmoplantar keratoderma, Bothnian type
1817 Diffuse panbronchiolitis
1818 Diffuse scleroderma
1819 Diffuse systemic sclerosis
1820 Digitorenocerebral syndrome
1821 Dihydropteridine reductase deficiency
1822 Dihydropyrimidine dehydrogenase deficiency
1823 Dihydroxyadeninuria
1824 Dilated cardiomyopathy
1825 Dilated cardiomyopathy with hypergonadotropic hypogonadism
1826 Dincsoy-Salih-Patel syndrome
1827 Diomedi Bernardi Placidi syndrome

1828 Diphallia
1829 Diphallus rachischisis imperforate anus
1830 Diphosphoglycerate mutase deficiency of erythrocyte
1831 Diphtheria
1832 Diploid-triploid mosaicism
1833 Diprosopia
1834 Dipsogenic diabetes insipidus
1835 Dissecting cellulitis of the scalp
1836 Disseminated infection with mycobacterium avium complex
1837 Disseminated superficial actinic porokeratosis
1838 Distal arthrogryposis Moore Weaver type
1839 Distal arthrogryposis type 5
1840 Distal chromosome 18q deletion syndrome
1841 Distal myopathy Markesbery-Griggs type
1842 Distal myopathy with vocal cord weakness
1843 Distal primary acidosis, familial
1844 Distichiasis heart congenital anomalies
1845 Distomatosis
1846 DK phocomelia syndrome
1847 D-minus hemolytic uremic syndrome (D-HUS)
1848 Dobrow syndrome
1849 Dominant cleft palate
1850 Dominant ichthyosis vulgaris
1851 Donnai-Barrow syndrome
1852 Dopamine beta hydroxylase deficiency
1853 Dosage-sensitive sex reversal
1854 Double discordia
1855 Double fingernail of fifth finger
1856 Double nails on the fifth toe
1857 Double outlet left ventricle
1858 Double outlet right ventricle
1859 Double uterus-hemivagina-renal agenesis
1860 Dowling-Degos disease
1861 Doxorubicin induced cardiomyopathy
1862 Doyne honeycomb retinal dystrophy
1863 D-plus hemolytic uremic syndrome (D+HUS)
1864 Drachtman Weinblatt Sitarz syndrome
1865 Dracunculiasis
1866 Dravet syndrome
1867 Duane anomaly mental retardation

1868 Duane syndrome
1869 Duane syndrome type 1
1870 Duane syndrome type 2
1871 Duane syndrome type 3
1872 Duane-radial ray syndrome
1873 Dubin-Johnson syndrome
1874 Dubowitz syndrome
1875 Duchenne muscular dystrophy
1876 Duhring Brocq disease
1877 Duker Weiss Siber syndrome
1878 Duodenal atresia
1879 Duodenal atresia tetralogy of Fallot
1880 Duodenal ulcer due to antral G-cell hyperfunction
1881 Duodenojejunal atresia with volvulus, absent dorsal mesentery
and absent superior mesenteric artery
1882 Duplication of leg mirror foot
1883 Duplication of the thumb unilateral biphalangeal
1884 Duplication of urethra
1885 Dupont Sellier Chochillon syndrome
1886 Dupuytren subungual exostosis
1887 Dwarfism bluish sclerae
1888 Dwarfism deafness retinitis pigmentosa
1889 Dwarfism familial with muscle spasms
1890 Dwarfism lethal type advanced bone age
1891 Dwarfism Levi type
1892 Dwarfism stiff joint ocular abnormalities
1893 Dwarfism tall vertebrae
1894 Dwarfism thin bones multiple fractures
1895 Dwarfism, low-birth-weight type with unresponsiveness to growth
hormone
1896 Dwarfism, mental retardation and eye abnormality
1897 Dwarfism, proportionate with hip dislocation
1898 Dyggve-Melchior-Clausen syndrome
1899 Dykes Markes Harper syndrome
1900 Dysautonomia like disorder
1901 Dyschondrosteosis nephritis
1902 Dyschromatosis symmetrica hereditaria 1
1903 Dyschromatosis universalis hereditaria
1904 Dysembryoplastic neuroepithelial tumor
1905 Dysequilibrium syndrome

1906 Dysesthetic Vulvodynia
1907 Dysferlinopathy
1908 Dysfibrinogenemia
1909 Dysgnathia complex
1910 Dyskeratosis congenita
1911 Dyskeratosis congenita autosomal dominant
1912 Dyskeratosis congenita autosomal recessive
1913 Dyskeratosis congenita X-linked
1914 Dyskinesia, drug induced
1915 Dysmorphism abnormal vocalization mental retardation
1916 Dysmorphism cleft palate loose skin
1917 Dysosteosclerosis
1918 Dysostosis acral with facial and genital abnormalities
1919 Dysostosis peripheral
1920 Dysplasia epiphysealis hemimelica
1921 Dysplastic cortical hyperostosis
1922 Dyssegmental dysplasia and glaucoma
1923 Dyssegmental dysplasia Rolland-Desbuquois type
1924 Dyssegmental dysplasia Silverman-Handmaker type
1925 Dyssynergia cerebellaris myoclonica
1926 Dystelephalangy
1927 Dystonia 1
1928 Dystonia 10
1929 Dystonia 11
1930 Dystonia 12
1931 Dystonia 13
1932 Dystonia 15, myoclonic
1933 Dystonia 16
1934 Dystonia 17
1935 Dystonia 18
1936 Dystonia 19
1937 Dystonia 2, torsion, autosomal recessive
1938 Dystonia 3, torsion, X-linked
1939 Dystonia 4, torsion, autosomal dominant type
1940 Dystonia 5, Dopa-responsive type
1941 Dystonia 6, torsion
1942 Dystonia 7, torsion
1943 Dystonia 8
1944 Dystrophic epidermolysis bullosa
1945 Dystrophinopathy

1946 EAF
1947 Eagle syndrome
1948 Eales disease
1949 Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
1950 Eastern equine encephalitis
1951 Ebola virus disease
1952 Ebstein's anomaly
1953 Eccentrochondrodysplasia
1954 Eccrine acrospiroma
1955 Eccrine mucinous carcinoma
1956 Eclampsia
1957 Ectodermal dysplasia
1958 Ectodermal dysplasia 2, hidrotic
1959 Ectodermal dysplasia adrenal cyst
1960 Ectodermal dysplasia alopecia preaxial polydactyly
1961 Ectodermal dysplasia arthrogryposis diabetes mellitus
1962 Ectodermal dysplasia Bartalos type
1963 Ectodermal dysplasia Berlin type
1964 Ectodermal dysplasia blindness
1965 Ectodermal dysplasia Margarita type
1966 Ectodermal dysplasia mental retardation CNS malformation
1967 Ectodermal dysplasia mental retardation syndactyly
1968 Ectodermal dysplasia neurosensory deafness
1969 Ectodermal dysplasia skin fragility syndrome
1970 Ectodermal dysplasia trichoodontoonychial type
1971 Ectodermal dysplasia with natal teeth Turnpenny type
1972 Ectodermal dysplasia, hidrotic, Christianson-Fourie type
1973 Ectodermal dysplasia, sensorineural hearing loss, and distinctive
facial features
1974 Ectopia lentis, isolated autosomal recessive
1975 Ectopia pupillae
1976 Ectopic pregnancy
1977 Ectrodactyly and ectodermal dysplasia without cleft lip/palate
1978 Ectrodactyly cardiopathy dysmorphism
1979 Ectrodactyly cleft palate syndrome
1980 Ectrodactyly polydactyly
1981 Ectropion inferior cleft lip and or palate
1982 Edinburgh malformation syndrome
1983 EEC syndrome
1984 EEM syndrome

1985 Egg shaped pupils
1986 Ehlers-Danlos syndrome
1987 Ehlers-Danlos syndrome arthrochalasia type
1988 Ehlers-Danlos syndrome Beasley Cohen type
1989 Ehlers-Danlos syndrome dermatosparaxis type
1990 Ehlers-Danlos syndrome dysfibronectinemic type
1991 Ehlers-Danlos syndrome hypermobility type
1992 Ehlers-Danlos syndrome kyphoscoliotic type
1993 Ehlers-Danlos syndrome progeroid type
1994 Ehlers-Danlos syndrome type 5
1995 Ehlers-Danlos syndrome vascular type
1996 Ehlers-Danlos syndrome, classic type
1997 Ehlers-Danlos-like syndrome due to tenascin-X deficiency
1998 Ehrlichiosis
1999 Eisenmenger syndrome
2000 Elastosis perforans serpiginosa
2001 Elective mutism
2002 Elliott Ludman Teebi syndrome
2003 Ellis Yale Winter syndrome
2004 Ellis-Van Creveld syndrome
2005 Emanuel syndrome
2006 Embryonal carcinoma
2007 Embryonal sarcoma
2008 Emerinopathy
2009 Emery-Dreifuss muscular dystrophy
2010 Emery-Dreifuss muscular dystrophy, dominant type
2011 Emery-Dreifuss muscular dystrophy, X-linked
2012 Empty sella syndrome
2013 Enamel hypoplasia cataract hydrocephaly
2014 Encephalitis lethargica
2015 Encephalocele
2016 Encephalocele anencephaly
2017 Encephalocraniocutaneous lipomatosis
2018 Encephalomyopathy
2019 Encephalopathy intracranial calcification growth hormone
deficiency microcephaly retinal degeneration
2020 Encephalopathy recurrent of childhood
2021 Enchondroma
2022 Enchondromatosis dwarfism deafness
2023 Endemic Kaposi sarcoma

2024 Endocardial fibroelastosis
2025 Endolymphatic sac tumor
2026 Endometrial stromal sarcoma
2027 Endomyocardial fibroelastosis
2028 Endomyocardial fibrosis
2029 Eng Strom syndrome
2030 Engelhard Yatziv syndrome
2031 Enlarged vestibular aqueduct syndrome
2032 Enolase deficiency type 1
2033 Enolase deficiency type 2
2034 Enolase deficiency type 3
2035 Enolase deficiency type 4
2036 Enterobiasis
2037 Enteropathica
2038 Enteropathy-associated T-cell lymphoma
2039 Enterovirus antenatal infection
2040 Enthesitis-related juvenile idiopathic arthritis
2041 Envenomization by bothrops lanceolatus
2042 Eosinophilia-myalgia syndrome
2043 Eosinophilic cryptitis
2044 Eosinophilic cystitis
2045 Eosinophilic enteropathy
2046 Eosinophilic fasciitis
2047 Eosinophilic pustular folliculitis
2048 Ependymoblastoma
2049 Ependymoma
2050 Epidermal nevus vitamin D resistant rickets
2051 Epidermodysplasia verruciformis
2052 Epidermolysa bullosa simplex with muscular dystrophy
2053 Epidermolysis bullosa
2054 Epidermolysis bullosa acquisita
2055 Epidermolysis bullosa simplex
2056 Epidermolysis bullosa simplex with mottled pigmentation
2057 Epidermolysis bullosa simplex, Dowling-Meara type
2058 Epidermolysis bullosa simplex, generalized
2059 Epidermolysis bullosa simplex, localized
2060 Epidermolysis bullosa simplex, Ogna type
2061 Epidermolysis bullosa, late-onset localized junctional, with mental
retardation
2062 Epidermolysis bullosa, lethal acantholytic

2063 Epidermolysis bullosa, pretibial
2064 Epidermolytic hyperkeratosis
2065 Epilepsy benign neonatal dominant form
2066 Epilepsy benign neonatal recessive form
2067 Epilepsy juvenile absence
2068 Epilepsy mental deterioration Finnish type
2069 Epilepsy occipital calcifications
2070 Epilepsy progressive myoclonic type 3
2071 Epilepsy telangiectasia
2072 Epilepsy, benign occipital
2073 Epilepsy, female restricted, with mental retardation
2074 Epilepsy, nocturnal, frontal lobe type
2075 Epilepsy, partial, familial
2076 Epilepsy, rolandic with paroxysmal exercise-induced dystonia and
writer's cramp
2077 Epileptic encephalopathy Lennox-Gastaut type
2078 Epimetaphyseal dysplasia cataract
2079 Epimetaphyseal skeletal dysplasia
2080 Epiphyseal dysplasia dysmorphism camptodactyly
2081 Epiphyseal dysplasia hearing loss dysmorphism
2082 Epiphyseal dysplasia multiple with early-onset diabetes mellitus
2083 Episodic ataxia
2084 Episodic ataxia with nystagmus
2085 Epithelial basement membrane corneal dystrophy
2086 Epithelial-myoepithelial carcinoma
2087 Epithelioid sarcoma
2088 Epitheliopathy, acute posterior multifocal placoid pigment
2089 Erdheim-Chester disease
2090 Ermine phenotype
2091 Erosive pustular dermatosis of the scalp
2092 Erysipelas
2093 Erythema elevatum diutinum
2094 Erythema multiforme
2095 Erythema nodosum, idiopathic
2096 Erythroderma desquamativa of Leiner
2097 Erythroderma lethal congenital
2098 Erythrokeratodermia variabilis et progressiva
2099 Erythromelalgia
2100 Erythroplakia
2101 Erythropoietic protoporphyria

2102 Erythropoietic uroporphyria associated with myeloid malignancy
2103 Escher Hirt syndrome
2104 Escobar syndrome, type B
2105 Esophageal atresia
2106 Esophageal atresia coloboma talipes
2107 Esophageal cancer
2108 Esophageal cancer, childhood
2109 Esophageal varices
2110 Esotropia
2111 Essential thrombocythemia
2112 Essential tremor
2113 Esthesioneuroblastoma
2114 Ethylmalonic encephalopathy
2115 Eunuchoidism familial hypogonadotropic
2116 Evans syndrome
2117 Ewing's family of tumors
2118 Ewing's sarcoma
2119 Exencephaly
2120 Exercise induced anaphylaxis
2121 Exercise-induced hyperinsulinemic hypoglycemia
2122 Exertional headache
2123 Exfoliative dermatitis
2124 Exogenous lipoid pneumonia
2125 Exogenous ochronosis
2126 Exostoses anetodermia brachydactyly type E
2127 Exostoses, multiple, type 1
2128 Exostoses, multiple, type 2
2129 Exostoses, multiple, type 3
2130 Exstrophy of the bladder
2131 Exstrophy of the bladder-epispadias
2132 Exsudative retinopathy familial, autosomal dominant
2133 Exsudative retinopathy familial, autosomal recessive
2134 Exsudative retinopathy familial, X-linked, recessive
2135 Exsudative retinopathy, familial
2136 Extracranial germ cell tumor, childhood
2137 Extragonadal germ cell tumor
2138 Extrasystoles short stature hyperpigmentation microcephaly
2139 Eyebrows duplication of, with stretchable skin and syndactyly
2140 Fabry disease
2141 FACES syndrome

2142 Facial asymetry temporal seizures
2143 Facial clefting corpus callosum agenesis
2144 Facial ectodermal dysplasia
2145 Facies unusual arthrogryposis advanced skeletal malformations
2146 Facio digito genital syndrome recessive form
2147 Facio skeletal genital syndrome Rippberger type
2148 Facio thoraco genital syndrome
2149 Faciocardiomelic dysplasia lethal
2150 Faciocardiorenal syndrome
2151 Faciomandibular myoclonus, nocturnal
2152 Facioscapulohumeral muscular dystrophy
2153 Factor 2 deficiency
2154 Factor V deficiency
2155 Factor VII deficiency
2156 Factor X deficiency
2157 Factor XI deficiency, congenital
2158 Factor XII deficiency
2159 Factor XIII deficiency
2160 Fairbank disease
2161 Fallopian tube cancer
2162 Fallot complex with severe mental and growth retardation
2163 Familial adenomatous polyposis
2164 Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago
without arterial hypertension
2165 Familial avascular necrosis of the femoral head
2166 Familial band heterotopia
2167 Familial bilateral striatal necrosis
2168 Familial capillaro-venous leptomeningeal angiomatosis
2169 Familial cold autoinflammatory syndrome
2170 Familial colorectal cancer
2171 Familial congenital fourth cranial nerve palsy
2172 Familial cylindromatosis
2173 Familial deafness
2174 Familial dermographism
2175 Familial dilated cardiomyopathy
2176 Familial dysautonomia
2177 Familial encephalopathy with neuroserpin inclusion bodies
2178 Familial eosinophilia
2179 Familial erythema nodosum
2180 Familial erythrocytosis, 1

2181 Familial exudative vitreoretinopathy
2182 Familial glucocorticoid deficiency
2183 Familial HDL deficiency
2184 Familial hemiplegic migraine
2185 Familial hemiplegic migraine type 1
2186 Familial hemiplegic migraine type 2
2187 Familial hemiplegic migraine type 3
2188 Familial hyperaldosteronism type 2
2189 Familial hyperinsulinism
2190 Familial hyperlipo-proteinemia type 1
2191 Familial hypersecretion of adrenal androgens
2192 Familial hypersensitivity pneumonitis
2193 Familial hyperthyroidism due to mutations in TSH receptor
2194 Familial hypertrophic cardiomyopathy
2195 Familial hypobetalipoproteinemia
2196 Familial hypocalciuric hypercalcemia
2197 Familial hypocalciuric hypercalcemia type 1
2198 Familial hypocalciuric hypercalcemia type 2
2199 Familial hypocalciuric hypercalcemia type 3
2200 Familial hypopituitarism
2201 Familial hypothyroidism
2202 Familial idiopathic basal ganglia calcification
2203 Familial interstitial fibrosis
2204 Familial isolated hyperparathyroidism
2205 Familial isolated pituitary adenoma
2206 Familial juvenile hyperuricaemic nephropathy
2207 Familial Mediterranean fever
2208 Familial multiple trichodiscomas
2209 Familial myelofibrosis
2210 Familial nasal acilia
2211 Familial neurocardiogenic syncope
2212 Familial opposable triphalangeal thumbs duplication
2213 Familial partial paralysis
2214 Familial periodic paralysis
2215 Familial platelet disorder with associated myeloid malignancy
2216 Familial porencephaly
2217 Familial prostate cancer
2218 Familial pulmonary arterial hypertension leucopenia and atrial
septal defect
2219 Familial renal cell carcinoma

2220 Familial streblodactyly
2221 Familial thoracic aortic aneurysm and dissection
2222 Familial transthyretin amyloidosis
2223 Familial Treacher Collins syndrome
2224 Familial tumoral calcinosis
2225 Familial ventricular tachycardia
2226 Familial visceral myopathy with external ophthalmoplegia
2227 Familial Wilms tumor 2
2228 Fanconi anemia
2229 Fanconi Bickel syndrome
2230 Fanconi ichthyosis dysmorphism
2231 Fanconi like syndrome
2232 Fanconi renotubular syndrome
2233 Fara Chlupackova syndrome
2234 Farber's disease
2235 Farmer's lung
2236 Fascioliasis
2237 Fatal familial insomnia
2238 Fatal infantile encephalomyopathy
2239 Fatty acid hydroxylase-associated neurodegeneration
2240 Faulk Epstein Jones syndrome
2241 Faye-Petersen-Ward-Carey syndrome
2242 Fazio Londe syndrome
2243 Febrile Ulceronecrotic Mucha-Habermann disease
2244 Feigenbaum Bergeron Richardson syndrome
2245 Feigenbaum Bergeron syndrome
2246 Feingold syndrome
2247 Feingold Trainer syndrome
2248 Felty's syndrome
2249 Femoral facial syndrome
2250 Femur bifid with monodactylous ectrodactyly
2251 Femur fibula ulna syndrome
2252 Fenton Wilkinson Toselano syndrome
2253 Fertile eunuch syndrome
2254 Fetal akinesia deformation sequence
2255 Fetal akinesia syndrome X-linked
2256 Fetal Alcohol Spectrum Disorders
2257 Fetal aminopterin syndrome
2258 Fetal and neonatal alloimmune thrombocytopenia
2259 Fetal antihypertensive drugs syndrome

2260 Fetal brain disruption sequence
2261 Fetal diethylstilbestrol syndrome
2262 Fetal edema
2263 Fetal enterovirus syndrome
2264 Fetal hydantoin syndrome
2265 Fetal indomethacin syndrome
2266 Fetal iodine syndrome
2267 Fetal left ventricular aneurysm
2268 Fetal macrosomia
2269 Fetal methimazole syndrome
2270 Fetal methyl mercury syndrome
2271 Fetal minoxidil syndrome
2272 Fetal parainfluenza virus type 3 syndrome
2273 Fetal parvovirus syndrome
2274 Fetal phenothiazine syndrome
2275 Fetal retinoid syndrome
2276 Fetal thalidomide syndrome
2277 Fetal valproate syndrome
2278 Fetal warfarin syndrome
2279 FG syndrome
2280 FG syndrome 2
2281 FG syndrome 3
2282 FG syndrome 4
2283 Fibrinogen deficiency, congenital
2284 Fibrocartilaginous embolism
2285 Fibrochondrogenesis
2286 Fibrodysplasia ossificans progressiva
2287 Fibromatosis multiple non ossifying
2288 Fibrosarcoma
2289 Fibrosing mediastinitis
2290 Fibrous dysplasia
2291 Fibula aplasia complex brachydactyly
2292 Fibular aplasia
2293 Fibular aplasia ectrodactyly
2294 Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
2295 Fibular hypoplasia and complex brachydactyly
2296 Fibular hypoplasia scapulo pelvic dysplasia absent
2297 Filippi syndrome
2298 Fine-Lubinsky syndrome

2299 Finger locking recurrent with intrauterine growth retardation and
proportionate short stature
2300 Fish-eye disease
2301 Fitz-Hugh-Curtis syndrome
2302 Fitzsimmons syndrome
2303 Fitzsimmons Walson Mellor syndrome
2304 Fitzsimmons-Guilbert syndrome
2305 Flat umbilicus familial
2306 Flavimonas oryzihabitans
2307 Floating-Harbor syndrome
2308 Florid cemento-osseous dysplasia
2309 Florid cystic endosalpingiosis of the uterus
2310 Florid papillomatosis of the nipple
2311 FLOTCH syndrome
2312 Flynn Aird syndrome
2313 Focal alopecia congenital megalencephaly
2314 Focal cortical dysplasia of Taylor
2315 Focal dermal hypoplasia
2316 Focal dystonia
2317 Focal facial dermal dysplasia
2318 Focal or multifocal malformations in neuronal migration
2319 Foix Chavany Marie syndrome
2320 Follicle-stimulating hormone deficiency, isolated
2321 Follicular dendritic cell tumor
2322 Follicular lymphoma
2323 Follicular lymphoreticuloma
2324 Fontaine Farriaux Blanckaert syndrome
2325 Forbes Albright syndrome
2326 Formaldehyde poisoning
2327 Fountain syndrome
2328 Fournier gangrene
2329 Fowler's syndrome
2330 Fox-Fordyce disease
2331 Fragile X syndrome
2332 Fragile X syndrome type 1
2333 Fragile X syndrome type 2
2334 Fragile X syndrome type 3
2335 Fragile XE syndrome
2336 Franceschini Vardeu Guala syndrome
2337 Franek Bocker kahlen syndrome

2338 Frank Ter Haar syndrome
2339 Fraser Jequier Chen syndrome
2340 Fraser like syndrome
2341 Fraser syndrome
2342 Frasier syndrome
2343 FRAXD
2344 Free sialic acid storage disease
2345 Freeman Sheldon syndrome
2346 Freiberg's disease
2347 Freire-Maia odontotrichomelic syndrome
2348 Frenkel Russe syndrome
2349 Frey's syndrome
2350 Frias syndrome
2351 Friedel Heid Grosshans syndrome
2352 Friedman Goodman syndrome
2353 Friedreich ataxia
2354 Friedreich ataxia congenital glaucoma
2355 Frints De Smet Fabry Fryns syndrome
2356 Froelich syndrome
2357 Frontal fibrosing alopecia
2358 Fronto nasal malformation cloacal exstrophy
2359 Frontofacionasal dysplasia
2360 Frontometaphyseal dysplasia
2361 Frontonasal dysplasia
2362 Frontonasal dysplasia acromelic
2363 Frontonasal dysplasia Klippel Feil syndrome
2364 Frontonasal dysplasia phocomelic upper limbs
2365 Frontotemporal dementia
2366 Frontotemporal dementia, ubiquitin-positive
2367 Froster-Huch syndrome
2368 Fructose-1,6-bisphosphatase deficiency
2369 Fryns Fabry Remans syndrome
2370 Fryns Hofkens Fabry syndrome
2371 Fryns smeets thiry syndrome
2372 Fryns syndrome
2373 Fuchs atrophia gyrata chorioideae et retinae
2374 Fuchs heterochromic iridocyclitis
2375 Fucosidosis
2376 Fucosidosis type 1
2377 Fuhrmann syndrome

2378 Fukuda Miyanomae Nakata syndrome
2379 Fukuyama type muscular dystrophy
2380 Fumarase deficiency
2381 Functioning pancreatic endocrine tumor
2382 Fundus dystrophy, pseudoinflammatory, of Sorsby
2383 Fuqua Berkovitz syndrome
2384 Furunculous myiasis
2385 Fused mandibular incisors
2386 Galactocele
2387 Galactokinase deficiency
2388 Galactorrhoea-Hyperprolactinaemia
2389 Galactose epimerase deficiency
2390 Galactosemia
2391 Galactosialidosis
2392 Gall bladder cancer
2393 Game Friedman Paradice syndrome
2394 Gamma aminobutyric acid transaminase deficiency
2395 Gamma heavy chain disease
2396 Gamma-cystathionase deficiency
2397 Gangliocytoma
2398 Ganglioglioma
2399 GAPO syndrome
2400 Gardner Morrison Abbot syndrome
2401 Gardner syndrome
2402 Gardner-Diamond syndrome
2403 Garret Tripp syndrome
2404 Gas bloat syndrome
2405 Gastric duplication cysts
2406 Gastric lymphoma
2407 Gastrocutaneous syndrome
2408 Gastro-enteropancreatic neuroendocrine tumor
2409 Gastrointestinal Stromal Tumors
2410 Gastroschisis
2411 Gaucher disease
2412 Gaucher disease perinatal lethal
2413 Gaucher disease type 1
2414 Gaucher disease type 2
2415 Gaucher disease type 3
2416 Gaucher ichthyosis restrictive dermopathy
2417 Gaucher-like disease

2418 Gay Feinmesser Cohen syndrome
2419 Gelatinous ascites
2420 Geleophysic dwarfism
2421 Gemignani syndrome
2422 Genee-Wiedemann syndrome
2423 Generalized dominant dystrophic epidermolysis bullosa
2424 Generalized resistance to thyroid hormone
2425 Generalized torsion dystonia
2426 Genetic reflex epilepsy
2427 Geniospasm
2428 Genital dwarfism
2429 Genital dwarfism, Turner type
2430 Genito palato cardiac syndrome
2431 Genitopatellar syndrome
2432 Genoa syndrome
2433 Genochondromatosis
2434 Genu valgum, st Helena familial
2435 Geographic tongue
2436 German syndrome
2437 Germinoma
2438 Geroderma osteodysplasticum
2439 Gershinibaruch Leibo syndrome
2440 Gershoni-Baruch syndrome
2441 Gerstmann syndrome
2442 Gerstmann-Straussler-Scheinker disease
2443 Gestational diabetes insipidus
2444 Gestational trophoblastic tumor
2445 Ghosal hematodiaphyseal dysplasia syndrome
2446 Ghose Sachdev Kumar syndrome
2447 Gianotti Crosti syndrome
2448 Giant axonal neuropathy
2449 Giant cell arteritis
2450 Giant cell myocarditis
2451 Giant congenital nevus
2452 Giant ganglionic hyperplasia
2453 Giant mammary hamartoma
2454 Giant papillary conjunctivitis
2455 Giant platelet syndrome
2456 Gigantism
2457 Gigantism advanced bone age hoarse cry

2458 Gigantomastia
2459 Gingival fibromatosis with distinctive facies
2460 Gingival fibromatosis with hypertrichosis
2461 Gingival fibromatosis, 1
2462 Gingival fibromatosis, 2
2463 Gingival fibromatosis, 3
2464 Gingival fibromatosis, 4
2465 Gitelman syndrome
2466 Glanders
2467 Glanzmann thrombasthenia
2468 Glass Chapman Hockley syndrome
2469 Glassy cell carcinoma of the cervix
2470 Glaucoma 3 primary infantile B
2471 Glaucoma iridogoniodysgenesia
2472 Glaucoma sleep apnea
2473 Glaucoma type 1C
2474 Glaucoma, congenital
2475 Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short
stature syndrome
2476 Glaucoma, hereditary
2477 Glaucoma, hereditary adult type 1A
2478 Glaucoma, hereditary juvenile type 1B
2479 Glaucoma, primary infantile type 3A
2480 Glioblastoma
2481 Glioma
2482 Gliomatosis cerebri
2483 Gliosarcoma
2484 Global disaccharide intolerance
2485 Glomerulonephritis
2486 Glomerulonephritis with sparse hair and telangiectases
2487 Glomerulopathy with fibronectin deposits 1
2488 Glomerulopathy with fibronectin deposits 2
2489 Glomus jugulare tumors
2490 Glomus tympanicum tumor
2491 Glomus vagale tumors
2492 Glossodynia
2493 Glossopalatine ankylosis micrognathia ear anomalies
2494 Glossopharyngeal neuralgia
2495 Glucagonoma
2496 Glucagonoma syndrome

2497 Glucocorticoid resistance
2498 Glucocorticoid-remediable aldosteronism
2499 Glucose transporter type 1 deficiency syndrome
2500 Glucose-6-phosphate dehydrogenase deficiency
2501 Glucose-6-phosphate translocase deficiency
2502 Glucose-galactose malabsorption
2503 Glucosephosphate isomerase deficiency
2504 Glucosidase acid-1,4-alpha deficiency
2505 Glutamate decarboxylase deficiency
2506 Glutamate formiminotransferase deficiency
2507 Glutamine deficiency, congenital
2508 Glutaric acidemia type I
2509 Glutaric acidemia type II
2510 Glutathione synthetase deficiency
2511 Glutathionuria
2512 Glyceraldehyde-3-phosphate dehydrogenase deficiency
2513 Glycine encephalopathy
2514 Glycine N-methyltransferase deficiency
2515 Glycogen storage disease 8
2516 Glycogen storage disease type 0
2517 Glycogen storage disease type 0, muscle
2518 Glycogen storage disease type 12
2519 Glycogen storage disease type 13
2520 Glycogen storage disease type 14
2521 Glycogen storage disease type 1A
2522 Glycogen storage disease type 1B
2523 Glycogen storage disease type 2
2524 Glycogen storage disease type 3
2525 Glycogen storage disease type 4
2526 Glycogen storage disease type 5
2527 Glycogen storage disease type 6
2528 Glycogen storage disease type 6, due to phosphorylation
2529 Glycogen storage disease type 7
2530 Glycoproteinosis
2531 Glycosylphosphatidylinositol deficiency
2532 GM1 gangliosidosis
2533 GM1 gangliosidosis type 1
2534 GM1 gangliosidosis type 2
2535 GM1 gangliosidosis type 3
2536 GM2 gangliosidosis, 0 variant

2537 GM2-gangliosidosis, B, B1, AB variant
2538 Gms syndrome
2539 Gnathostoma Infection
2540 Goblet cell carcinoma
2541 Goldberg-Shprintzen megacolon syndrome
2542 Goldenhar disease
2543 Goldmann-Favre syndrome
2544 Gollop Coates syndrome
2545 GOMBO syndrome
2546 Gomez Lopez Hernandez syndrome
2547 Gonadal dysgenesis
2548 Gonadal dysgenesis mixed
2549 Gonadal dysgenesis Turner type
2550 Gonadal dysgenesis XY type associated anomalies
2551 Gonadal dysgenesis, XX type
2552 Goniodysgenesis mental retardation short stature
2553 Gonococcal conjunctivitis
2554 Good syndrome
2555 Goodman syndrome
2556 Goodpasture syndrome
2557 Gordon syndrome
2558 Gorham's disease
2559 Gorlin Bushkell Jensen syndrome
2560 Gorlin Chaudhry Moss syndrome
2561 Gouty nephropathy, familial
2562 Gracile bone dysplasia
2563 GRACILE syndrome
2564 Graham Boyle Troxell syndrome
2565 Grand Kaine Fulling syndrome
2566 Grant syndrome
2567 Granulocytopenia
2568 Granuloma annulare
2569 Granuloma Inguinale
2570 Granulomas, congenital cerebral
2571 Granulomatous hypophysitis
2572 Granulomatous rosacea
2573 Granulomatous slack skin disease
2574 Granulosa cell tumor of the ovary
2575 Graphite Pneumoconiosis
2576 Graves' disease

2577 Gray platelet syndrome
2578 Gray zone lymphoma
2579 Green Sandford Davison syndrome
2580 Greig cephalopolysyndactyly syndrome
2581 Griscelli syndrome
2582 Griscelli syndrome type 1
2583 Griscelli syndrome type 2
2584 Griscelli syndrome type 3
2585 Grix Blankenship Peterson syndrome
2586 Groenouw type I corneal dystrophy
2587 Groll Hirschowitz syndrome
2588 Group B strep disease in newborns
2589 Growth and mental retardation, mandibulofacial dysostosis,
microcephaly, and cleft palate
2590 Growth deficiency brachydactyly unusual facies
2591 Growth hormone deficiency
2592 Growth hormone insensitivity with immunodeficiency
2593 Growth retardation alopecia pseudoanodontia optic
2594 Growth retardation hydrocephaly lung hypoplasia
2595 Growth retardation mental retardation phalangeal hypoplasia
2596 Grubben de Cock Borghgraef syndrome
2597 GTP cyclohydrolase I deficiency
2598 Guanidinoacetate methyltransferase deficiency
2599 Guillain-Barre syndrome
2600 Guizar Vasquez Sanchez Manzano syndrome
2601 Gupta Patton syndrome
2602 Gurrieri syndrome
2603 Guttate psoriasis
2604 Gynandroblastoma
2605 Gyrate atrophy of choroid and retina
2606 Haemophilus influenzae
2607 Hailey-Hailey disease
2608 Haim-Munk syndrome
2609 Hair defect with photosensitivity and mental retardation
2610 Hairy cell leukemia
2611 Hairy elbows
2612 Hairy nose tip
2613 Hairy palms and soles
2614 Hairy tongue
2615 Hajdu-Cheney syndrome

2616 Halal Setton Wang syndrome
2617 Halal syndrome
2618 Hall Riggs mental retardation syndrome
2619 Hallermann-Streiff syndrome
2620 Halo nevi
2621 Hamanishi Ueba Tsuji syndrome
2622 Hand and foot deformity with flat facies
2623 Hand foot uterus syndrome
2624 Hand-Schuller-Christian disease
2625 Hanhart syndrome
2626 Hansen's disease
2627 Hantavirus pulmonary syndrome
2628 Hard skin syndrome Parana type
2629 Hardikar syndrome
2630 Harding ataxia
2631 Harlequin ichthyosis
2632 Harlequin syndrome
2633 Harrod Doman Keele syndrome
2634 Hartnup disease
2635 Hashimoto-Pritzker syndrome
2636 Hashimoto's encephalitis
2637 Hawkinsinuria
2638 Hay-Wells syndrome
2639 Heart defect, tongue hamartoma and polysyndactyly
2640 Heart tumor
2641 Heart-hand syndrome, Slovenian type
2642 Heart-hand syndrome,Spanish type
2643 Heavy metal poisoning
2644 HEC syndrome
2645 Heinz body anemias
2646 HELLP syndrome
2647 Helminthiasis
2648 Hemangioblastoma
2649 Hemangioendothelioma
2650 Hemangioma thrombocytopenia syndrome
2651 Hemangiomatosis, familial pulmonary capillary
2652 Hemangiopericytoma
2653 Hemeralopia, congenital essential
2654 Hemeralopia, familial
2655 Hemi 3 syndrome

2656 Hemicrania continua
2657 Hemifacial atrophy agenesis of the caudate nucleus
2658 Hemifacial hyperplasia strabismus
2659 Hemifacial microsomia
2660 Hemifacial myohyperplasia
2661 Hemihypertrophy intestinal web corneal opacity
2662 Hemimegalencephaly
2663 Hemiplegia
2664 Hemiplegic migraine
2665 Hemochromatosis type 2
2666 Hemochromatosis type 3
2667 Hemochromatosis type 4
2668 Hemoglobin C disease
2669 Hemoglobin E disease
2670 Hemoglobin SC disease
2671 Hemoglobin sickle-beta thalassemia
2672 Hemoglobin Zurich
2673 Hemoglobinemia
2674 Hemolytic anemia lethal congenital nonspherocytic with genital
and other abnormalities
2675 Hemolytic uremic syndrome
2676 Hemolytic uremic syndrome, atypical, childhood
2677 Hemophagocytic lymphohistiocytosis
2678 Hemophagocytic lymphohistiocytosis, familial, 2
2679 Hemophagocytic lymphohistiocytosis, familial, 3
2680 Hemophagocytic lymphohistiocytosis, familial, 4
2681 Hemophagocytic reticulosis
2682 Hemophilia
2683 Hemophilia A, acquired
2684 Hemophilia A, congenital
2685 Hemophilia B
2686 Hemophilic arthropathy
2687 Hemorrhagic fever
2688 Hemorrhagic proctocolitis
2689 Hemorrhagic shock and encephalopathy syndrome
2690 Hemosiderosis
2691 Hennekam syndrome
2692 Hennekam Van der Horst syndrome
2693 Henoch-Schonlein purpura
2694 Hepadnavirus infection

2695 Heparane sulfamidase deficiency
2696 Heparin-induced thrombocytopenia
2697 Hepatic cystic hamartoma
2698 Hepatic encephalopathy
2699 Hepatic fibrosis renal cysts mental retardation
2700 Hepatic venoocclusive disease with immunodeficiency
2701 Hepatitis E
2702 Hepatoblastoma
2703 Hepatocellular carcinoma (fibrolamellar variant)
2704 Hepatocellular carcinoma, childhood
2705 Hepatoerythropoietic porphyria
2706 Hepatorenal syndrome
2707 Hereditary amyloidosis
2708 Hereditary angioedema
2709 Hereditary angiopathy with nephropathy, aneurysms, and muscle
cramps syndrome
2710 Hereditary ataxia
2711 Hereditary cerebellar ataxia syndrome of early onset
2712 Hereditary cerebral hemorrhage with amyloidosis
2713 Hereditary congenital facial paresis
2714 Hereditary coproporphyria
2715 Hereditary diffuse gastric cancer
2716 Hereditary diffuse leukoencephalopathy with spheroids
2717 Hereditary elliptocytosis
2718 Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
2719 Hereditary fructose intolerance
2720 Hereditary hemorrhagic telangiectasia
2721 Hereditary hemorrhagic telangiectasia type 2
2722 Hereditary hemorrhagic telangiectasia type 3
2723 Hereditary hemorrhagic telangiectasia type 4
2724 Hereditary hyperekplexia
2725 Hereditary hyperuricemia
2726 Hereditary koilonychia
2727 Hereditary lymphedema type II
2728 Hereditary methemoglobinemia, recessive
2729 Hereditary mucoepithelial dysplasia
2730 Hereditary multiple osteochondromas
2731 Hereditary myopathy with intranuclear filamentous
2732 Hereditary neuralgic amyotrophy
2733 Hereditary neuropathy with liability to pressure palsy

2734 Hereditary nodular heterotopia
2735 Hereditary orotic aciduria without megaloblastic anaemia
2736 Hereditary pancreatitis
2737 Hereditary paroxysmal cerebral ataxia
2738 Hereditary peripheral nervous disorder
2739 Hereditary primary Fanconi disease
2740 Hereditary resistance to anti-vitamin K
2741 Hereditary sensory and autonomic neuropathy type 2
2742 Hereditary spastic paraplegia
2743 Hereditary spherocytosis
2744 Hereditary type 1 neuropathy
2745 Hereditary type 2 neuropathy
2746 Hereditary vascular retinopathy
2747 Hermansky Pudlak syndrome 2
2748 Hermansky-Pudlak syndrome
2749 Herpes simiae (B virus)
2750 Herpes simplex encephalitis
2751 Herpes virus antenatal infection
2752 Herpes zoster ophthalmicus
2753 Herpes zoster oticus
2754 Herpesvirus simiae B virus
2755 Herpetic embryopathy
2756 Herpetic keratitis
2757 Herrmann Opitz arthrogryposis syndrome
2758 Herrmann Opitz craniosynostosis
2759 Herrmann syndrome
2760 Hersh Podruch Weisskopk syndrome
2761 Heterochromia iridis
2762 Heterotaxy
2763 HHV-6 encephalitis
2764 Hidradenocarcinoma
2765 High molecular weight kininogen deficiency
2766 Hillig syndrome
2767 Hing Torack Dowston syndrome
2768 Hip luxation
2769 Hip subluxation
2770 Hirschsprung disease ganglioneuroblastoma
2771 Hirschsprung disease polydactyly heart disease
2772 Hirschsprung disease type 2
2773 Hirschsprung disease type 3

2774 Hirschsprung disease type d brachydactyly
2775 Hirschsprung microcephaly cleft palate
2776 Hirschsprung nail hypoplasia dysmorphism
2777 Hirschsprung's disease
2778 Hirsutism skeletal dysplasia mental retardation
2779 His bundle tachycardia
2780 Histidinemia
2781 Histidinuria renal tubular defect
2782 Histiocytosis with joint contractures and sensorineural deafness
2783 Histiocytosis, Non-Langerhans-Cell
2784 Hittner Hirsch Kreh syndrome
2785 Hm syndrome
2786 HMG CoA lyase deficiency
2787 HMG CoA synthetase deficiency
2788 Ho Kaufman Mcalister syndrome
2789 Hodgkin disease, X-linked pseudoautosomal
2790 Hodgkin lymphoma
2791 Hodgkin lymphoma, childhood
2792 Hodgkin lymphoma, during pregnancy
2793 Holmes Borden syndrome
2794 Holoacardius amorphus
2795 Holocarboxylase synthetase deficiency
2796 Holoprosencephaly
2797 Holoprosencephaly caudal dysgenesis
2798 Holoprosencephaly ectrodactyly cleft lip palate
2799 Holoprosencephaly, recurrent infections, and monocytosis
2800 Holt-Oram syndrome
2801 Holzgreve syndrome
2802 Homocarnosinosis
2803 Homocysteinemia
2804 Homocysteinemia due to MTHFR deficiency
2805 Homocystinuria
2806 Homocystinuria due to CBS deficiency
2807 Homocystinuria due to defect in methylation cbl e
2808 Homocystinuria due to defect in methylation cbl g
2809 Homologous wasting disease
2810 Hooft disease
2811 Hoon Hall syndrome
2812 Hordnes Engebretsen Knudtson syndrome
2813 Horn Kolb syndrome

2814 Horner's syndrome
2815 Horseshoe kidney
2816 Houlston Ironton Temple syndrome
2817 Hoyeraal Hreidarsson syndrome
2818 HTLV-1 associated myelopathy/tropical spastic paraparesis
2819 Human granulocytic ehrlichiosis
2820 Human monocytic ehrlichiosis
2821 Human spumaretrovirus infection
2822 Human T-cell leukemia virus type 1
2823 Human T-cell leukemia virus type 2
2824 Human T-cell leukemia virus type 3
2825 Humeroradial synostosis
2826 Humeroradioulnar synostosis
2827 Hunter Carpenter Macdonald syndrome
2828 Hunter Macpherson syndrome
2829 Hunter Mcdonald syndrome
2830 Hunter Rudd Hoffmann syndrome
2831 Hunter-McAlpine syndrome
2832 Huntington disease
2833 Hurst Hallam Hockey syndrome
2834 Hurthle cell thyroid cancer
2835 Hutchinson incisors
2836 Hutterite cerebroosteonephrodysplasia syndrome
2837 Hyalinosis systemic short stature
2838 Hydatidiform mole
2839 Hydatidosis
2840 Hyde Forster Mccarthy Berry syndrome
2841 Hydranencephaly
2842 Hydroa vacciniforme
2843 Hydroa vacciniforme, familial
2844 Hydrocephalus
2845 Hydrocephalus autosomal recessive
2846 Hydrocephalus craniosynostosis bifid nose
2847 Hydrocephalus due to congenital stenosis of aqueduct of sylvius
2848 Hydrocephalus growth retardation skeletal anomalies
2849 Hydrocephalus obesity hypogonadism
2850 Hydrocephalus skeletal anomalies
2851 Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
2852 Hydrocephaly corpus callosum agenesis diaphragmatic hernia
2853 Hydrolethalus syndrome

2854 Hydronephrosis peculiar facial expression
2855 Hydrops ectrodactyly syndactyly
2856 Hydrops fetalis
2857 Hydrops fetalis anemia immune disorder absent thumb
2858 Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
2859 Hydroxycarboxylic aciduria
2860 Hydroxykynureninuria
2861 Hydroxyprolinemia
2862 Hygroma cervical
2863 Hymenolepiasis
2864 Hyper IgE syndrome
2865 Hyperacusis
2866 Hyperadrenalism
2867 Hyperbetaalaninemia
2868 Hyperbilirubinemia transient familial neonatal
2869 Hyperbilirubinemia type 2
2870 Hypercalcinuria macular coloboma
2871 Hypercementosis
2872 Hypereosinophilic syndrome
2873 Hyperferritinemia cataract syndrome
2874 Hyperglycerolemia
2875 Hyperglycinemia, isolated nonketotic
2876 Hyperglycinemia, isolated nonketotic type 1
2877 Hyperglycinemia, isolated nonketotic type 2
2878 Hypergonadotropic ovarian failure, familial or sporadic
2879 Hyper-IgD syndrome
2880 Hyperinsulinemic hypoglycemia familial 2
2881 Hyperinsulinemic hypoglycemia familial 3
2882 Hyperinsulinism due to glucokinase deficiency
2883 Hyperinsulinism due to glutamodehydrogenase deficiency
2884 Hyperinsulinism, diffuse
2885 Hyperinsulinism, focal
2886 Hyperinsulinism-hyperammonemia syndrome
2887 Hyperkalemic periodic paralysis
2888 Hyperkeratosis lenticularis perstans
2889 Hyperkeratosis palmoplantar localized acanthokeratolytic
2890 Hyperkeratosis palmoplantar localized epidermolytic
2891 Hyperlipidemia type 3
2892 Hyperlipoproteinemia type 1
2893 Hyperlipoproteinemia type 2

2894 Hyperlipoproteinemia type 4
2895 Hyperlipoproteinemia type 5
2896 Hyperlysinemia
2897 Hypermanganesemia with dystonia polycythemia and cirrhosis
2898 Hyperostosis cortical infantile
2899 Hyperostosis corticalis generalisata
2900 Hyperostosis corticalis generalisata, benign form of Worth with
torus palatinus
2901 Hyperostosis-hyperphosphatemia syndrome
2902 Hyperparathyroidism, neonatal severe primary
2903 Hyperparathyroidism, primary
2904 Hyperparathyroidism-jaw tumor syndrome
2905 Hyperphenilalaninemia due to pterin-4-alpha-carbin
2906 Hyperphenylalaninemia due to dehydratase deficiency
2907 Hyperphosphatemic familial tumoral calcinosis
2908 Hyperpipecolatemia
2909 Hyperprolinemia
2910 Hyperprolinemia type 2
2911 Hyper-reninism
2912 Hypersensitivity vasculitis
2913 Hypertelorism and tetralogy of Fallot
2914 Hypertensive hypokalemia familial
2915 Hyperthermia induced defects
2916 Hypertrichosis congenital generalized X-linked
2917 Hypertrichosis lanuginosa congenita
2918 Hypertrichosis lanuginosa, acquired
2919 Hypertrichosis, anterior cervical
2920 Hypertrichosis, hyperkeratosis, mental retardation, and distinctive
facial features
2921 Hypertrophic branchial myopathy
2922 Hypertrophic hemangiectasia
2923 Hypertrophic neuropathy of Dejerine-Sottas
2924 Hypertryptophanemia
2925 Hypnic headache
2926 Hypoadrenalism
2927 Hypoaldosteronism
2928 Hypobetalipoproteinaemia ataxia hearing loss
2929 Hypocalcemia, autosomal dominant
2930 Hypochondroplasia
2931 Hypocomplementemic urticarial vasculitis

2932 Hypodermyasis
2933 Hypodontia of incisors and premolars
2934 Hypodontia, X-linked
2935 Hypofibrinogenemia, familial
2936 Hypoglycemia with deficiency of glycogen synthetase in the liver
2937 Hypogonadism cardiomyopathy
2938 Hypogonadism male mental retardation skeletal anomaly
2939 Hypogonadism mitral valve prolapse mental retardation
2940 Hypogonadism primary partial alopecia
2941 Hypogonadism, alopecia, diabetes mellitus, mental retardation,
and extrapyramidal syndrome
2942 Hypogonadism, isolated, hypogonadotropic
2943 Hypogonadotropic hypogonadism without anosmia, X-linked
2944 Hypohidrotic ectodermal dysplasia
2945 Hypohidrotic ectodermal dysplasia autosomal dominant
2946 Hypohidrotic ectodermal dysplasia autosomal recessive
2947 Hypohidrotic ectodermal dysplasia with hypothyroidism and
ciliary dyskinesia
2948 Hypohidrotic ectodermal dysplasia with immune deficiency
2949 Hypokalemic periodic paralysis
2950 Hypoketonemic hypoglycemia
2951 Hypolipoproteinemia
2952 Hypomagnesemia 2, renal
2953 Hypomagnesemia primary
2954 Hypomandibular faciocranial dysostosis
2955 Hypomelanosis of Ito
2956 Hypomelanotic disorder
2957 Hypomelia mullerian duct anomalies
2958 Hypomyelination with atrophy of basal ganglia and cerebellum
2959 Hypoparathyroidism
2960 Hypoparathyroidism familial isolated
2961 Hypoparathyroidism short stature mental retardation
2962 Hypoparathyroidism X-linked
2963 Hypoparathyroidism-retardation-dysmorphism syndrome
2964 Hypopharyngeal cancer
2965 Hypophosphatasia
2966 Hypophosphatasia childhood
2967 Hypophosphatemic rickets
2968 Hypopituitarism
2969 Hypopituitarism micropenis cleft lip palate

2970 Hypopituitarism postaxial polydactyly
2971 Hypoplasia hepatic ductular
2972 Hypoplasia of the tibia with polydactyly
2973 Hypoplastic left heart syndrome
2974 Hypoplastic right heart syndrome
2975 Hypoplastic thumb mullerian aplasia
2976 Hypoplastic thumbs hydranencephaly
2977 Hyporeninemic hypoaldosteronism
2978 Hyposmia nasal hypoplasia hypogonadism
2979 Hypospadias familial
2980 Hypospadias mental retardation Goldblatt type
2981 Hypotelorism cleft palate hypospadias
2982 Hypothalamic dysfunction
2983 Hypothalamic hamartomas
2984 Hypothyroidism due to iodide transport defect
2985 Hypothyroidism postaxial polydactyly mental retardation
2986 Hypotonia, congenital nystagmus, ataxia and abnormal auditory
brainstem response
2987 Hypotonic sclerotic muscular dystrophy
2988 Hypotrichosis simplex
2989 Hypoxanthine guanine phosphoribosyltransferase deficiency
2990 I cell disease
2991 IBIDS syndrome
2992 ICF syndrome
2993 Ichthyosiform erythroderma, corneal involvement, deafness
2994 Ichthyosis alopecia eclabion ectropion mental retardation
2995 Ichthyosis and male hypogonadism
2996 Ichthyosis bullosa of Siemens
2997 Ichthyosis cheek eyebrow syndrome
2998 Ichthyosis congenita biliary atresia
2999 Ichthyosis deafness mental retardation skeletal anomaly
3000 Ichthyosis follicularis atrichia photophobia syndrome
3001 Ichthyosis hystrix gravior
3002 Ichthyosis hystrix, Curth Macklin type
3003 Ichthyosis lamellar 1
3004 Ichthyosis lamellar 2
3005 Ichthyosis lamellar 3
3006 Ichthyosis lamellar, autosomal dominant
3007 Ichthyosis linearis circumflexa
3008 Ichthyosis mental retardation dwarfism renal impairment

3009 Ichthyosis prematurity syndrome
3010 Ichthyosis tapered fingers midline groove up
3011 Ichthyosis vulgaris
3012 Ichthyosis with hypotrichosis, autosomal recessive
3013 Ichthyosis, acquired
3014 Ichthyosis, erythrokeratolysis hemalis
3015 Ichthyosis, follicular
3016 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing
cholangitis
3017 Ichthyosis, mental retardation, dwarfism and renal impairment
3018 Ichthyosis-mental retardation syndrome with large keratohyalin
granules in the skin
3019 Idiopathic acute eosinophilic pneumonia
3020 Idiopathic adolescent scoliosis
3021 Idiopathic alveolar hypoventilation syndrome
3022 Idiopathic basal ganglia calcification childhood-onset
3023 Idiopathic diffuse interstitial fibrosis
3024 Idiopathic dilatation of the pulmonary artery
3025 Idiopathic double athetosis
3026 Idiopathic eosinophilic chronic pneumopathy
3027 Idiopathic juxtafoveal retinal telangiectasia
3028 Idiopathic myopathy
3029 Idiopathic pulmonary fibrosis
3030 Idiopathic pulmonary hemosiderosis
3031 Idiopathic pulmonary hypertension
3032 Idiopathic spinal cord herniation
3033 Idiopathic subglottic tracheal stenosis
3034 Idiopathic thrombocytopenic purpura
3035 Iida Kannari syndrome
3036 IL12RB1 deficiency
3037 Illum syndrome
3038 Imaizumi Kuroki syndrome
3039 Imerslund-Grasbeck syndrome
3040 Iminoglycinuria
3041 Immotile cilia syndrome, due to defective radial spokes
3042 Immune defect due to absence of thymus
3043 Immune deficiency, familial variable
3044 Immune dysfunction with T-cell inactivation due to calcium entry
defect 1

3045 Immune dysfunction with T-cell inactivation due to calcium entry
defect 2
3046 Immune thrombocytopenia
3047 Immunodeficiency with hyper IgM type 1
3048 Immunodeficiency with hyper IgM type 2
3049 Immunodeficiency with hyper IgM type 3
3050 Immunodeficiency with hyper IgM type 4
3051 Immunodeficiency with hyper IgM type 5
3052 Immunodeficiency without anhidrotic ectodermal dysplasia
3053 Immunodeficiency, microcephaly with normal intelligence
3054 Immunodysregulation, polyendocrinopathy and enteropathy Xlinked
3055 Immunoglobulin A deficiency 2
3056 Impairment of oral perception
3057 Imperforate anus
3058 Imperforate oropharynx-costo vetebral anomalies
3059 Inborn amino acid metabolism disorder
3060 Inborn renal aminoaciduria
3061 Inclusion body myopathy 2
3062 Inclusion body myopathy 3
3063 Inclusion body myopathy with early-onset Paget disease and
frontotemporal dementia
3064 Inclusion body myositis
3065 Inclusion conjunctivitis
3066 Incontinentia pigmenti
3067 Indolent B cell lymphoma
3068 Indomethacin antenatal infection
3069 Infant epilepsy with migrant focal crisis
3070 Infantile apnea
3071 Infantile axonal neuropathy
3072 Infantile convulsions and paroxysmal choreoathetosis, familial
3073 Infantile digital fibromatosis
3074 Infantile free sialic acid storage disease
3075 Infantile histiocytoid cardiomyopathy
3076 Infantile myofibromatosis
3077 Infantile onset spinocerebellar ataxia
3078 Infantile Parkinsonism-dystonia
3079 Infantile recurrent chronic multifocal osteomyolitis
3080 Infantile scoliosis
3081 Infantile spasms broad thumbs

3082 Infantile striato thalamic degeneration
3083 Infantile-onset ascending hereditary spastic paralysis
3084 Infectious arthritis
3085 Infectious myocarditis
3086 Infective endocarditis
3087 Infective myositis
3088 Inflammatory breast cancer
3089 Inflammatory linear verrucous epidermal nevus
3090 Inflammatory myofibroblastic tumor
3091 Infundibulopelvic dysgenesis
3092 Inherited hypoprothrombinemia
3093 Inherited peripheral neuropathy
3094 Iniencephaly
3095 Insulin autoimmune syndrome
3096 Insulin-like growth factor 1 resistance to
3097 Insulin-like growth factor I deficiency
3098 Insulinoma
3099 Insulin-resistance type B
3100 Insulin-resistant acanthosis nigricans, type A
3101 Intellectual deficit - short stature - hypertelorism
3102 Intellectual deficit Buenos-Aires type
3103 Intellectual deficit unusual facies talipes hand anomalies
3104 Intercellular cholesterol esterification disease
3105 Interferon gamma, receptor 1, deficiency
3106 Intermediate severe Salla disease
3107 Internal carotid agenesis
3108 Intestinal atresia multiple
3109 Intestinal pseudo-obstruction
3110 Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
3111 Intracranial aneurysms multiple congenital anomaly
3112 Intracranial arteriovenous malformation
3113 Intrahepatic cholangiocarcinoma
3114 Intrahepatic cholestasis of pregnancy
3115 Intraneural perineurioma
3116 Intraocular melanoma
3117 Intrathoracic kidney vertebral fusion
3118 Intrauterine growth retardation - mandibular malar hypoplasia
3119 Intrauterine growth retardation with increased mitomycin C
sensitivity
3120 Intrauterine infections

3121 Intravascular papillary endothelial hyperplasia
3122 Intravenous leiomyomatosis
3123 Intrinsic factor deficiency
3124 Iodine antenatal infection
3125 IRAK4 deficiency
3126 Iridocorneal endothelial syndrome
3127 Iridogoniodysgenesis and skeletal anomalies
3128 Iridogoniodysgenesis type1
3129 Iridogoniodysgenesis, dominant type
3130 Iris coloboma with ptosis hypertelorism and mental retardation
3131 Iris dysplasia hypertelorism deafness
3132 Iris hypoplasia and glaucoma
3133 Iron-refractory iron deficiency anemia
3134 Irons Bhan syndrome
3135 Isaac's syndrome
3136 Ischiadic hypoplasia renal dysfunction immunodeficiency
3137 Isobutyryl-CoA dehydrogenase deficiency
3138 Isochromosome Yp
3139 Isodicentric chromosome 15 syndrome
3140 Isolated ACTH deficiency
3141 Isolated growth hormone deficiency type 1A
3142 Isolated growth hormone deficiency type 1B
3143 Isolated growth hormone deficiency type 2
3144 Isolated growth hormone deficiency type 3
3145 Isosporiasis
3146 Isotretinoin embryopathy like syndrome
3147 Isovaleric acidemia
3148 Isthmian coarctation
3149 ITCH E3 ubiquitin ligase deficiency
3150 Ivemark syndrome
3151 IVIC syndrome
3152 Jackson-Weiss syndrome
3153 Jacobsen syndrome
3154 Jaffer Beighton syndrome
3155 Jamaican vomiting sickness
3156 Jankovic Rivera syndrome
3157 Jansen type metaphyseal chondrodysplasia
3158 Japanese encephalitis
3159 Jejunal atresia
3160 Jejunal atresia with renal adysplasia

3161 Jensen syndrome
3162 Jervell and Lange-Nielsen syndrome 2
3163 Jervell Lange-Nielsen syndrome
3164 Jeune syndrome
3165 Jeune syndrome situs inversus
3166 JMP syndrome
3167 Johanson Blizzard syndrome
3168 Johnson Hall Krous syndrome
3169 Johnson Munson syndrome
3170 Johnson neuroectodermal syndrome
3171 Johnston Aarons Schelley syndrome
3172 Joint laxity, familial
3173 Jones Hersh Yusk syndrome
3174 Jones syndrome
3175 Jorgenson Lenz syndrome
3176 Joubert syndrome
3177 Joubert syndrome 2
3178 Joubert syndrome with ocular anomalies
3179 Joubert syndrome with oculorenal anomalies
3180 Joubert syndrome with renal anomalies
3181 Juberg Marsidi syndrome
3182 Juberg-Hayward syndrome
3183 Judge Misch Wright syndrome
3184 Jumping Frenchmen of Maine
3185 Junctional epidermolysis bullosa
3186 Junctional epidermolysis bullosa inversa
3187 Junctional epidermolysis bullosa with pyloric atresia
3188 Junctional epidermolysis bullosa, Herlitz type
3189 Junctional epidermolysis bullosa, non-Herlitz type
3190 Jung Wolff Back Stahl syndrome
3191 Juvenile dermatomyositis
3192 Juvenile Huntington disease
3193 Juvenile hyaline fibromatosis
3194 Juvenile macular degeneration and hypotrichosis
3195 Juvenile myelomonocytic leukemia
3196 Juvenile myoclonic epilepsy
3197 Juvenile osteoporosis
3198 Juvenile polyposis syndrome
3199 Juvenile primary lateral sclerosis
3200 Juvenile retinoschisis

3201 Juvenile Scleroderma
3202 Juvenile temporal arteritis
3203 Juvenile-onset dystonia
3204 Kabuki syndrome
3205 Kallikrein hypertension
3206 Kallmann syndrome
3207 Kallmann syndrome 1
3208 Kallmann syndrome 2
3209 Kallmann syndrome 3
3210 Kallmann syndrome 4
3211 Kallmann syndrome 5
3212 Kallmann syndrome 6
3213 Kanzaki disease
3214 Kaolin pneumoconiosis
3215 Kaplan Plauchu Fitch syndrome
3216 Kaplowitz Bodurtha syndrome
3217 Kaposiform Hemangioendothelioma
3218 Kapur Toriello syndrome
3219 Karak syndrome
3220 Karandikar Maria Kamble syndrome
3221 Kartagener syndrome
3222 Kashani Strom Utley syndrome
3223 Kasznica Carlson Coppedge syndrome
3224 Katsantoni Papadakou Lagoyanni syndrome
3225 Kaufman oculocerebrofacial syndrome
3226 Kawasaki syndrome
3227 KBG syndrome
3228 Kearns Sayre syndrome
3229 Kennedy disease
3230 Kennerknecht Vogel syndrome
3231 Kenny-Caffey syndrome type 1
3232 Kenny-Caffey syndrome type 2
3233 Keratitis, hereditary
3234 Keratoconus
3235 Keratoconus posticus circumscriptus
3236 Keratoderma palmoplantar deafness
3237 Keratoderma palmoplantar spastic paralysis
3238 Keratoderma palmoplantaris transgrediens
3239 Keratolytic winter erythema
3240 Keratomalacia

3241 Keratosis focal palmoplantar gingival
3242 Keratosis follicularis dwarfism and cerebral atrophy
3243 Keratosis follicularis spinulosa decalvans
3244 Keratosis palmoplantaris adenocarcinoma of the colon
3245 Keratosis palmoplantaris papulosa
3246 Keratosis palmoplantaris striata 1
3247 Keratosis palmoplantaris striata 3
3248 Keratosis, seborrheic
3249 Kerion celsi
3250 Kernicterus
3251 Keshan disease
3252 Keutel syndrome
3253 KID syndrome
3254 Kidney cancer
3255 Kidney cancer, childhood
3256 Kienbock's disease
3257 Kifafa seizure disorder
3258 Kikuchi disease
3259 Kimura disease
3260 Kindler syndrome
3261 King Denborough syndrome
3262 Kingella infections
3263 Klatskin tumor
3264 Klebsiella
3265 Kleeblattschaedel syndrome
3266 Kleefstra syndrome
3267 Kleine Levin syndrome
3268 Kleiner Holmes syndrome
3269 Klinefelter syndrome
3270 Klippel Feil syndrome
3271 Klippel-Trenaunay syndrome
3272 Klumpke paralysis
3273 Kluver Bucy syndrome
3274 Kniest dysplasia
3275 Kniest like dysplasia lethal
3276 Kniest-like dysplasia with pursed lips and ectopia lentis
3277 Knobloch syndrome
3278 Knuckle pads, leuconychia and sensorineural deafness
3279 Kocher-Debre-Semelaigne syndrome
3280 Kohler disease

3281 Kohlschutter Tonz syndrome
3282 Konigsmark Knox Hussels syndrome
3283 Koone Rizzo Elias syndrome
3284 Kosztolanyi syndrome
3285 Kotzot-Richter syndrome
3286 Kousseff Nichols syndrome
3287 Kowarski syndrome
3288 Kozlowski Brown Hardwick syndrome
3289 Kozlowski Celermajer Tink syndrome
3290 Kozlowski Ouvrier syndrome
3291 Kozlowski Rafinski Klicharska syndrome
3292 Kozlowski Warren Fisher syndrome
3293 Kozlowski-Krajewska syndrome
3294 Krabbe disease atypical due to Saposin A deficiency
3295 Krabbe leukodystrophy
3296 Krauss Herman Holmes syndrome
3297 Krieble Bixler syndrome
3298 Krukenberg carcinoma
3299 KSHV inflammatory cytokine syndrome
3300 Kurczynski Casperson syndrome
3301 Kuru
3302 Kuskokwim disease
3303 Kuster Majewski Hammerstein syndrome
3304 Kuster syndrome
3305 Kyasanur Forest disease
3306 Kyphomelic dysplasia
3307 Kyrle disease
3308 L-2-hydroxyglutaric aciduria
3309 La Crosse encephalitis
3310 Laband syndrome
3311 Labrador lung
3312 Lachiewicz Sibley syndrome
3313 Lacrimo-auriculo-dento-digital syndrome
3314 Lactate dehydrogenase A deficiency
3315 Lactate dehydrogenase B deficiency
3316 Lactate dehydrogenase deficiency
3317 Lactate dehydrogenase deficiency type C
3318 Lactic acidosis congenital infantile
3319 Lafora disease
3320 Lagophthalmia cleft lip palate

3321 Laing distal myopathy
3322 Lambdoid synostosis
3323 Lambert Eaton myasthenic syndrome
3324 Lambert syndrome
3325 Lamellar ichthyosis
3326 Landau-Kleffner syndrome
3327 Landy-Donnai syndrome
3328 Langer mesomelic dysplasia
3329 Langer Nishino Yamaguchi syndrome
3330 Langerhans cell histiocytosis
3331 Langerhans cell sarcoma
3332 Laparoschisis
3333 Laplane Fontaine Lagardere syndrome
3334 Large B cell diffuse lymphoma
3335 Large granular lymphocyte leukemia
3336 Laron syndrome
3337 Larsen syndrome
3338 Larsen syndrome, dominant type
3339 Larsen syndrome, recessive type
3340 Larsen-like syndrome
3341 Laryngeal abductor paralysis mental retardation
3342 Laryngeal cancer
3343 Laryngeal cancer, childhood
3344 Laryngeal cleft
3345 Laryngeal papillomatosis
3346 Laryngocele
3347 Laryngomalacia
3348 Laryngoonychocutaneous syndrome
3349 Larynx atresia
3350 Larynx, congenital partial atresia of
3351 Lassueur-Graham-Little syndrome
3352 Late-onset congenital adrenal hyperplasia
3353 Lateral body wall defect
3354 Lateral meningocele syndrome
3355 Lateral semicircular canal malformation, familial, with external
and middle ear abnormalities
3356 Laterality defects dominant
3357 Lathosterolosis
3358 Lathyrism
3359 Lattice corneal dystrophy type 1

3360 Lattice corneal dystrophy type 3A
3361 Laugier-Hunziker syndrome
3362 Laurence Prosser Rocker syndrome
3363 Laurin-Sandrow syndrome
3364 LCAD deficiency
3365 LCHAD deficiency
3366 Le Marec Bracq Picaud syndrome
3367 Leber congenital amaurosis
3368 Leber congenital amaurosis 1
3369 Leber congenital amaurosis 10
3370 Leber congenital amaurosis 11
3371 Leber congenital amaurosis 12
3372 Leber congenital amaurosis 13
3373 Leber congenital amaurosis 14
3374 Leber congenital amaurosis 15
3375 Leber congenital amaurosis 16
3376 Leber congenital amaurosis 2
3377 Leber congenital amaurosis 3
3378 Leber congenital amaurosis 4
3379 Leber congenital amaurosis 5
3380 Leber congenital amaurosis 6
3381 Leber congenital amaurosis 7
3382 Leber congenital amaurosis 8
3383 Leber congenital amaurosis 9
3384 Leber hereditary optic neuropathy
3385 Leber hereditary optic neuropathy with dystonia
3386 Leber miliary aneurysm
3387 Ledderhose disease
3388 Left ventricular noncompaction
3389 Left-sided gallbladder
3390 Leg absence deformity cataract
3391 Legg-Calve-Perthes disease
3392 Legionellosis
3393 Legius syndrome
3394 Leigh syndrome
3395 Leigh syndrome, French Canadian type
3396 Leiner disease
3397 Leiomyoma of vulva and esophagus
3398 Leiomyomatosis and renal cell cancer, hereditary
3399 Leiomyomatosis familial

3400 Leiomyomatosis of esophagus, cataract and hematuria
3401 Leiomyomatosis, esophageal and vulval, with nephropathy
3402 Leiomyosarcoma
3403 Leishmaniasis
3404 Leisti Hollister Rimoin syndrome
3405 Lelis syndrome
3406 Lemierre syndrome
3407 Lenegre disease
3408 Lentigo maligna melanoma
3409 Lenz Majewski hyperostotic dwarfism
3410 Lenz microphthalmia syndrome
3411 LEOPARD syndrome
3412 Leprechaunism
3413 Leptospirosis
3414 Leri pleonosteosis
3415 Leri Weill dyschondrosteosis
3416 Lesch Nyhan syndrome
3417 Lethal chondrodysplasia Moerman type
3418 Lethal chondrodysplasia Seller type
3419 Lethal congenital contracture syndrome 1
3420 Lethal congenital contracture syndrome 2
3421 Lethal short limb skeletal dysplasia Al Gazali type
3422 Lethal short-limb dwarfism, McAlister-Crane type
3423 Leucine-sensitive hypoglycemia of infancy
3424 Leucocyte adhesion defect
3425 Leukemia subleukemic
3426 Leukemia, B-cell, chronic
3427 Leukemia, Myeloid
3428 Leukemia, T-cell, chronic
3429 Leukocyte adhesion deficiency type 1
3430 Leukodystrophy
3431 Leukodystrophy reunion type
3432 Leukodystrophy with oligodontia
3433 Leukodystrophy, dysmyelinating, and spastic paraparesis with or
without dystonia
3434 Leukodystrophy, hypomyelinating 3
3435 Leukodystrophy, pseudometachromatic
3436 Leukoencephalopathy palmoplantar keratoderma
3437 Leukoencephalopathy with vanishing white matter
3438 Leukoencephalopathy, arthritis, colitis, and

hypogammaglobulinema
3439 Leukoencephalopathy, cerebral calcifications, and cysts
3440 Leukomalacia
3441 Leukomelanoderma mental redardation hypotrichosis
3442 Leukonychia totalis
3443 Leukoplakia
3444 Levator syndrome
3445 Levic Stefanovic Nikolic syndrome
3446 Levotransposition of the great arteries
3447 Levy-Yeboa syndrome
3448 Lewy body dementia
3449 Leydig cells hypoplasia
3450 Lhermitte-Duclos disease
3451 Lichen planus follicularis
3452 Lichen planus pigmentosus
3453 Lichen sclerosus
3454 Lichtenstein syndrome
3455 Liddle syndrome
3456 Li-Fraumeni syndrome
3457 Light chain deposition disease
3458 Limb deficiencies distal with micrognathia
3459 Limb dystonia
3460 Limb reduction defect
3461 Limb-body wall complex
3462 Limb-girdle muscular dystrophy
3463 Limb-girdle muscular dystrophy type 2E
3464 Limb-girdle muscular dystrophy type 2F
3465 Limb-girdle muscular dystrophy type 2H
3466 Limb-girdle muscular dystrophy, type 1A
3467 Limb-girdle muscular dystrophy, type 1B
3468 Limb-girdle muscular dystrophy, type 2A
3469 Limb-girdle muscular dystrophy, type 2B
3470 Limb-girdle muscular dystrophy, type 2C
3471 Limb-girdle muscular dystrophy, type 2D
3472 Limb-girdle muscular dystrophy, type 2G
3473 Limbic encephalitis
3474 Limb-mammary syndrome
3475 Limited scleroderma
3476 Linear hamartoma syndrome
3477 Linear IgA disease

3478 Linear nevus sebaceous syndrome
3479 Linear porokeratosis
3480 Linear scleroderma
3481 Lip and oral cavity cancer
3482 Lipase deficiency combined
3483 Lipidosis with triglycerid storage disease
3484 Lipoamide dehydrogenase deficiency
3485 Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and
leukomelanodermic papules
3486 Lipodermatosclerosis
3487 Lipodystrophy
3488 Lipodystrophy, familial partial, type 2
3489 Lipogranulomatosis
3490 Lipoid proteinosis of Urbach and Wiethe
3491 Lipomyelomeningocele
3492 Liposarcoma
3493 Lissencephaly 1
3494 Lissencephaly 2
3495 Lissencephaly syndrome type 1
3496 Lissencephaly X-linked
3497 Lissencephaly, isolated
3498 Listeria infection
3499 Littoral cell angioma of the spleen
3500 Liver cancer
3501 Liver failure acute infantile
3502 Localized epiphyseal dysplasia
3503 Localized hypertrophic neuropathy
3504 Localized scleroderma
3505 Locked-in syndrome
3506 Lockwood Feingold syndrome
3507 Loeys-Dietz syndrome
3508 Loeys-Dietz syndrome type 1A
3509 Loeys-Dietz syndrome type 1B
3510 Loeys-Dietz syndrome type 2A
3511 Loeys-Dietz syndrome type 2B
3512 Loeys-Dietz syndrome type 3
3513 Logopenic progressive aphasia
3514 Loiasis
3515 Loin pain hematuria syndrome
3516 Long QT syndrome 1

3517 Long QT syndrome 10
3518 Long QT syndrome 11
3519 Long QT syndrome 2
3520 Long QT syndrome 3
3521 Long QT syndrome 4
3522 Long QT syndrome 5
3523 Long QT syndrome 6
3524 Long QT syndrome 8
3525 Long QT syndrome 9
3526 Loose anagen hair syndrome
3527 Lopes Gorlin syndrome
3528 Lowe oculocerebrorenal syndrome
3529 Lower mesodermal defects sequence
3530 Lowry Maclean syndrome
3531 Lowry Wood syndrome
3532 Lubani Al Saleh Teebi syndrome
3533 Lubinsky syndrome
3534 Lubs X-linked mental retardation syndrome
3535 Lucey-Driscoll syndrome
3536 Lujan Fryns syndrome
3537 Lumbar malsegmentation short stature
3538 Lung agenesis
3539 Lupus nephritis
3540 Lutz Richner Landolt syndrome
3541 Lymph node neoplasm
3542 Lymphangiectasis
3543 Lymphangioleiomyomatosis
3544 Lymphangioma
3545 Lymphangiomatosis
3546 Lymphatic filariasis
3547 Lymphatic neoplasm
3548 Lymphedema and cerebral arteriovenous anomaly
3549 Lymphedema, microcephaly and chorioretinopathy syndrome
3550 Lymphedema, congenital
3551 Lymphedema-distichiasis syndrome
3552 Lymphoblastic lymphoma
3553 Lymphocytes absent
3554 Lymphocytic colitis
3555 Lymphocytic hypophysitis
3556 Lymphocytic infiltrate of Jessner

3557 Lymphocytic vasculitis
3558 Lymphogranuloma venereum
3559 Lymphoma AIDSrelated
3560 Lymphoma, gastric non Hodgkins type
3561 Lymphoma, large-cell
3562 Lymphoma, large-cell, immunoblastic
3563 Lymphoma, small cleaved-cell, diffuse
3564 Lymphoma, small cleaved-cell, follicular
3565 Lymphomatoid granulomatosis
3566 Lymphomatoid papulosis
3567 Lymphomatous thyroiditis
3568 Lymphosarcoma
3569 Lynch syndrome
3570 Lysinuric protein intolerance
3571 Lysteria monocytoigeneses meningitis
3572 Mac Dermot Winter syndrome
3573 Macrocephaly mesodermal hamartoma spectrum
3574 Macrocephaly, benign familial
3575 Macrocephaly, mental retardation, short stature, spastic paraplegia
and CNS malformations
3576 Macrocephaly-capillary malformation
3577 Macrodactyly of the foot
3578 Macrodactyly of the hand
3579 Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and
aged appearance
3580 Macroglossia
3581 Macrogyria, pseudobulbar palsy and mental retardation
3582 Macrophagic myofasciitis
3583 Macrosomia with lethal microphthalmia
3584 Macrothrombocytopenia progressive deafness
3585 Macular dystrophy, atypical vitelliform
3586 Macular dystrophy, concentric annular
3587 Macular dystrophy, corneal type 1
3588 Macules hereditary congenital hypopigmented and
hyperpigmented
3589 Madelung disease
3590 Madokoro Ohdo Sonoda syndrome
3591 Maffucci syndrome
3592 Mahvash disease
3593 Majeed syndrome

3594 Mal de debarquement
3595 Malakoplakia
3596 Malaria
3597 Male pseudohermaphroditism due to defective LH molecule
3598 Male pseudohermaphroditism intellectual disability syndrome,
Verloes type
3599 Malignant cylindroma
3600 Malignant eccrine spiradenoma
3601 Malignant fibrous histiocytoma
3602 Malignant germ cell tumor
3603 Malignant hyperthermia
3604 Malignant hyperthermia arthrogryposis torticollis
3605 Malignant hyperthermia susceptibility type 1
3606 Malignant hyperthermia susceptibility type 2
3607 Malignant hyperthermia susceptibility type 3
3608 Malignant hyperthermia susceptibility type 4
3609 Malignant hyperthermia susceptibility type 5
3610 Malignant hyperthermia susceptibility type 6
3611 Malignant melanoma, childhood
3612 Malignant mesenchymal tumor
3613 Malignant mesothelioma
3614 Malignant mixed Mullerian tumor
3615 Malignant peripheral nerve sheath tumor
3616 Malignant Teratocarcinosarcoma
3617 Mallory-Weiss syndrome
3618 Malonyl-CoA decarboxylase deficiency
3619 Malpuech facial clefting syndrome
3620 Mandibuloacral dysplasia with type A lipodystrophy
3621 Mandibuloacral dysplasia with type B lipodystrophy
3622 Manitoba oculotrichoanal syndrome
3623 Mannosidosis, beta A, lysosomal
3624 Manouvrier syndrome
3625 Mansonelliasis
3626 Mantle cell lymphoma
3627 Manz syndrome
3628 Maple syrup urine disease
3629 Maple syrup urine disease type 1A
3630 Maple syrup urine disease type 1B
3631 Maple syrup urine disease type 2
3632 Marburg hemorrhagic fever

3633 Marchiafava Bignami disease
3634 Marcus Gunn phenomenon
3635 Marden Walker like syndrome
3636 Marden-Walker syndrome
3637 Marek disease
3638 Marfan syndrome
3639 Marfanoid hypermobility syndrome
3640 Marfanoid mental retardation syndrome autosomal
3641 Marginal glioneuronal heterotopia
3642 Marie type ataxia
3643 Marie Unna congenital hypotrichosis
3644 Marinesco-Sjogren syndrome
3645 Marinesco-Sjogren-like syndrome (MSLS)
3646 Markel Vikkula Mulliken syndrome
3647 Maroteaux Fonfria syndrome
3648 Maroteaux Stanescu Cousin syndrome
3649 Marphanoid syndrome type De Silva
3650 Marsden Nyhan Sakati syndrome
3651 Marshall syndrome
3652 Marshall-Smith syndrome
3653 Martinez Monasterio Pinheiro syndrome
3654 Martsolf syndrome
3655 MASS syndrome
3656 Massa Casaer Ceulemans syndrome
3657 Mastocytic enterocolitis
3658 Mastocytosis
3659 Mastocytosis cutaneous with short stature conductive hearing loss
and microtia
3660 Mastroiacovo De Rosa Satta syndrome
3661 Mastroiacovo Gambi Segni syndrome
3662 Maternal hyperphenylalaninemia
3663 Maternally inherited Leigh syndrome
3664 Matsoukas Liarikos Giannika syndrome
3665 Maturity-onset diabetes of the young
3666 Maturity-onset diabetes of the young, type 1
3667 Maturity-onset diabetes of the young, type 2
3668 Maturity-onset diabetes of the young, type 3
3669 Maturity-onset diabetes of the young, type 4
3670 Maturity-onset diabetes of the young, type 5
3671 Maturity-onset diabetes of the young, type 6

3672 Maturity-onset diabetes of the young, type 7
3673 Maturity-onset diabetes of the young, type 8
3674 Maturity-onset diabetes of the young, type 9
3675 Maumenee syndrome
3676 Maxillary double lip
3677 Maxillofacial dysostosis
3678 Maxillonasal dysplasia, Binder type
3679 Mayer-Rokitansky-Kuster-Hauser syndrome
3680 McCallum Macadam Johnston syndrome
3681 McCune Albright syndrome
3682 McDonough syndrome
3683 McDowall syndrome
3684 McGillivray syndrome
3685 McKusick Kaufman syndrome
3686 McLeod neuroacanthocytosis syndrome
3687 McPherson Clemens syndrome
3688 McPherson Robertson Cammarano syndrome
3689 MDP syndrome
3690 Meacham Winn Culler syndrome
3691 Measles
3692 Meckel syndrome
3693 Meckel syndrome type 2
3694 Meckel syndrome type 3
3695 Meconium aspiration syndrome
3696 Medeira-Dennis-Donnai syndrome
3697 Medial Medullary Syndrome
3698 Median cleft of upper lip with polyps of facial skin and nasal
mucosa
3699 Median nodule of the upper lip
3700 Mediastinal endodermal sinus tumors
3701 Medium-chain 3-ketoacyl-coa thiolase deficiency
3702 Medium-chain acyl-coenzyme A dehydrogenase deficiency
3703 Medrano Roldan syndrome
3704 Medullary cystic kidney disease
3705 Medullary cystic kidney disease 1
3706 Medullary cystic kidney disease 2
3707 Medullary sponge kidney
3708 Medulloblastoma
3709 Medulloblastoma, childhood
3710 Meesmann corneal dystrophy

3711 Megacystis microcolon intestinal hypoperistalsis syndrome
3712 Megaduodenum and/or megacystis
3713 Megaepiphyseal dwarfism
3714 Megalencephalic leukoencephalopathy with subcortical cysts
3715 Megalencephaly, polymicrogyria, and hydrocephalus (MPPH)
syndrome
3716 Megaloblastic anemia due to dihydrofolate reductase deficiency
3717 Megalocornea - spherophakia - secondary glaucoma
3718 Megalocornea mental retardation syndrome
3719 Megalocytic interstitial nephritis
3720 Megarbane Jalkh syndrome
3721 Megarbane syndrome
3722 Mehes syndrome
3723 Mehta Lewis Patton syndrome
3724 Meier Blumberg Imahorn syndrome
3725 Meier-Gorlin syndrome
3726 Meige syndrome
3727 Meigel disease
3728 Meinecke syndrome
3729 Melanocytic lesions of CNS
3730 Melanoma astrocytoma syndrome
3731 Melanoma, familial
3732 Meleda disease
3733 Melhem Fahl syndrome
3734 Meliodosis
3735 Melkersson-Rosenthal syndrome
3736 Melnick-Needles syndrome
3737 Melorheostosis
3738 Membranoproliferative glomerulonephritis type 2
3739 Membranous nephropathy
3740 Menetrier disease
3741 Meningioma
3742 Meningioma, spinal
3743 Meningocele
3744 Meningococcal infection
3745 Meningococcemia
3746 Meningoencephalocele
3747 Menkes disease
3748 Mental deficiency-epilepsy-endocrine disorders
3749 Mental retardation anophthalmia craniosynostosis

3750 Mental retardation arachnodactyly hypotonia telangiectasia
3751 Mental retardation athetosis microphthalmia
3752 Mental retardation cataracts calcified pinnae myopathy
3753 Mental retardation coloboma slimness
3754 Mental retardation dysmorphism hypogonadism diabetes
3755 Mental retardation epilepsy
3756 Mental retardation epilepsy bulbous nose
3757 Mental retardation gynecomastia obesity X-linked
3758 Mental retardation hip luxation G6PD variant
3759 Mental retardation hypocupremia hypobetalipoproteinemia
3760 Mental retardation hypotonia skin hyperpigmentation
3761 Mental retardation macrocephaly coarse facies hypotonia
3762 Mental retardation microcephaly phalangeal facial
3763 Mental retardation microcephaly unusual facies
3764 Mental retardation Mietens Weber type
3765 Mental retardation progressive spasticity
3766 Mental retardation short stature deafness genital
3767 Mental retardation short stature microcephaly eye
3768 Mental retardation skeletal dysplasia abducens palsy
3769 Mental retardation Smith Fineman Myers type
3770 Mental retardation spasticity ectrodactyly
3771 Mental retardation syndrome, Belgian type
3772 Mental retardation Wolff type
3773 Mental retardation X-linked borderline Maoa metabolism
anomaly
3774 Mental retardation X-linked dysmorphism
3775 Mental retardation X-linked syndromic 11
3776 Mental retardation X-linked syndromic 7
3777 Mental retardation x-linked with cerebellar hypoplasia and
distinctive facial appearance
3778 Mental retardation X-linked, South African type
3779 Mental retardation, epileptic seizures, hypogonadism and
hypogenitalism, microcephaly, and obesity
3780 Mental retardation, keratoconus, febrile seizures, and sinoatrial
block
3781 Mental retardation, macrocephaly, short stature and craniofacial
dysmorphism
3782 Mental retardation, X-linked 14
3783 Mental retardation, X-linked, nonspecific
3784 Mental retardation-hypotonic facies syndrome X-linked, 1

3785 Mental retardation-polydactyly-uncombable hair
3786 Meralgia paresthetica
3787 Mercury poisoning
3788 Merkel cell carcinoma
3789 Merlob Grunebaum Reisner syndrome
3790 Mesangial proliferative glomerulonephritis
3791 Mesenteric artery ischemia
3792 Mesomelia
3793 Mesomelia-synostoses syndrome
3794 Mesomelic dwarfism cleft palate camptodactyly
3795 Mesomelic dwarfism of hypoplastic tibia and radius type
3796 Mesomelic dysplasia Kantaputra type
3797 Mesomelic dysplasia Savarirayan type
3798 Mesomelic dysplasia skin dimples
3799 Metacarpals 4 and 5 fusion
3800 Metachondromatosis
3801 Metachromatic leukodystrophy
3802 Metachromatic leukodystrophy due to saposin B deficiency
3803 Metagonimiasis
3804 Metaphyseal acroscyphodysplasia
3805 Metaphyseal anadysplasia
3806 Metaphyseal chondrodysplasia Schmid type
3807 Metaphyseal chondrodysplasia Spahr type
3808 Metaphyseal chondrodysplasia with cone-shaped epiphyses,
normal hair, and normal hands
3809 Metaphyseal chondrodysplasia, others
3810 Metaphyseal dysostosis mental retardation conductive deafness
3811 Metaphyseal dysplasia maxillary hypoplasia brachydactyly
3812 Metaphyseal dysplasia without hypotrichosis
3813 Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
3814 Metaplastic carcinoma of the breast
3815 Metastatic insulinoma
3816 Metastatic squamous neck cancer with occult primary
3817 Metatropic dysplasia
3818 Methimazole antenatal infection
3819 Methionine adenosyltransferase deficiency
3820 Methyl mercury antenatal infection
3821 Methylcobalamin deficiency cbl G type
3822 Methylcobalamin deficiency, cbl E complementation type
3823 Methylmalonic acidemia

3824 Methylmalonic acidemia with homocystinuria
3825 Methylmalonic aciduria cblA type
3826 Methylmalonic aciduria cblB type
3827 Methylmalonic aciduria microcephaly cataract
3828 Methylmalonic aciduria with homocystinuria cbl f
3829 Methylmalonicacidemia with homocystinuria cbl d
3830 Methylmalonyl-Coenzyme A mutase deficiency
3831 Mevalonic aciduria
3832 MHC class 1 deficiency
3833 Michelin tire baby syndrome
3834 Michels Caskey syndrome
3835 Michels syndrome
3836 Mickleson syndrome
3837 Microbrachycephaly ptosis cleft lip
3838 Microcephalic osteodysplastic primordial dwarfism type 1
3839 Microcephalic osteodysplastic primordial dwarfism type 2
3840 Microcephalic primordial dwarfism Toriello type
3841 Microcephaly
3842 Microcephaly autosomal dominant
3843 Microcephaly brain defect spasticity hypernatremia
3844 Microcephaly cervical spine fusion anomalies
3845 Microcephaly chorioretinopathy recessive form
3846 Microcephaly deafness syndrome
3847 Microcephaly glomerulonephritis Marfanoid habitus
3848 Microcephaly hypergonadotropic hypogonadism short stature
3849 Microcephaly microcornea syndrome Seemanova type
3850 Microcephaly micropenis convulsions
3851 Microcephaly microphthalmos blindness
3852 Microcephaly nonsyndromal
3853 Microcephaly pontocerebellar hypoplasia dyskinesia
3854 Microcephaly seizures mental retardation heart disorders
3855 Microcephaly sparse hair mental retardation seizures
3856 Microcephaly with chorioretinopathy, autosomal dominant form
3857 Microcephaly with spastic quadriplegia
3858 Microcephaly, corpus callosum dysgenesis and cleft lip-palate
3859 Microcephaly, hiatal hernia and nephrotic syndrome
3860 Microcephaly, holoprosencephaly, and intrauterine growth
retardation
3861 Microcephaly, postnatal progressive, with seizures and brain
atrophy

3862 Microcephaly, primary autosomal recessive
3863 Microcephaly, seizures, and developmental delay
3864 Microcephaly-albinism-digital anomalies syndrome
3865 Microcephaly-cardiomyopathy
3866 Microcoria, congenital
3867 Microcornea posterior megalolenticonus persistent fetal
vasculature coloboma
3868 Microcornea corectopia macular hypoplasia
3869 Microcornea, glaucoma, and absent frontal sinuses
3870 Microcystic adnexal carcinoma
3871 Microdeletion 15q11.2
3872 Microdontia hypodontia short stature
3873 Microencephaly
3874 Microgastria limb reduction defect
3875 Microhydranencephaly
3876 Micromelic bone dysplasia with cloverleaf skull
3877 Microphthalmia associated with colobomatous cyst
3878 Microphthalmia cataract
3879 Microphthalmia mental deficiency
3880 Microphthalmia microtia fetal akinesia
3881 Microphthalmia syndromic 10
3882 Microphthalmia syndromic 3
3883 Microphthalmia syndromic 4
3884 Microphthalmia syndromic 5
3885 Microphthalmia syndromic 6
3886 Microphthalmia syndromic 7
3887 Microphthalmia syndromic 8
3888 Microphthalmia syndromic 9
3889 Microphthalmia, isolated, with corectopia
3890 Microscopic polyangiitis
3891 Microsomia hemifacial radial defects
3892 Microspherophakia with hernia
3893 Microsporidiosis
3894 Microtia eye coloboma and imperforation of the nasolacrimal duct
3895 Microtia, meatal atresia and conductive deafness
3896 Microtia-Anotia
3897 Microvillus inclusion disease
3898 Midline cleft of lower lip
3899 Midline lethal granuloma
3900 Midphalangeal hair

3901 Mikulicz disease
3902 Miles-Carpenter x-linked mental retardation syndrome
3903 Miller-Dieker syndrome
3904 Miller-Fisher syndrome
3905 Milner Khallouf Gibson syndrome
3906 Milroy disease
3907 Minicore myopathy with external ophthalmoplegia
3908 Minicore myopathy, antenatal onset, with arthrogryposis
3909 Minimal change disease
3910 Mirizzi syndrome
3911 Mirror polydactyly segmentation and limbs defects
3912 Mitochondrial complex I deficiency
3913 Mitochondrial complex II deficiency
3914 Mitochondrial complex III deficiency
3915 Mitochondrial complex IV deficiency
3916 Mitochondrial complex V deficiency
3917 Mitochondrial disease with severe hypotonia, lactic acidaemia and
hyperammonemia
3918 Mitochondrial encephalomyopathy lactic acidosis and stroke-like
episodes
3919 Mitochondrial genetic disorders
3920 Mitochondrial myopathy with diabetes
3921 Mitochondrial myopathy with lactic acidosis
3922 Mitochondrial neurogastrointestinal encephalopathy syndrome
3923 Mitochondrial trifunctional protein deficiency
3924 Mitral atresia
3925 Mitral regurgitation, conductive deafness, and fusion of cervical
vertebrae and of carpal and tarsal bones
3926 Mitral valve prolapse, familial, autosomal dominant
3927 Mitral valve prolapse, familial, X-linked
3928 Miura syndrome
3929 Mixed connective tissue disease
3930 Mixed sclerosing bone dystrophy
3931 Miyoshi myopathy
3932 Moebius axonal neuropathy hypogonadism
3933 Moebius syndrome
3934 Mohr-Tranebjaerg syndrome
3935 Mollaret meningitis
3936 Moloney syndrome
3937 Molybdenum cofactor deficiency

3938 MOMO syndrome
3939 Mondini dysplasia
3940 Mondor disease
3941 Monilethrix
3942 Monkeypox
3943 Monoclonal gammopathy of undetermined significance
3944 Monomelic amyotrophy
3945 Mononeuritis multiplex
3946 Montefiore syndrome
3947 Morel's ear
3948 Morgagni-Stewart-Morel syndrome
3949 Morgellons
3950 Morillo-Cucci-Passarge syndrome
3951 MORM syndrome
3952 Morphea
3953 Morquio syndrome A
3954 Morquio syndrome B
3955 Morquio syndrome C
3956 Morse-Rawnsley-Sargent syndrome
3957 Morvan's fibrillary chorea
3958 Mosaic monosomy 18
3959 Mosaic monosomy 22
3960 Mosaic trisomy 13
3961 Mosaic trisomy 14
3962 Mosaic trisomy 22
3963 Mosaic trisomy 6
3964 Mosaic trisomy 7
3965 Mosaic trisomy 8
3966 Mosaic trisomy 9
3967 Mosaic variegated aneuploidy syndrome
3968 Motor neuro-ophthalmic disorders
3969 Motor neuropathy peripheral with dysautonomia
3970 Motor sensory neuropathy type 1 aplasia cutis congenita
3971 Mounier-Kuhn syndrome
3972 Mousa Al din Al Nassar syndrome
3973 Mowat-Wilson syndrome
3974 Moyamoya disease
3975 MPV17-related hepatocerebral mitochondrial DNA depletion
syndrome
3976 MSBD syndrome

3977 Muckle-Wells syndrome
3978 Mucoepidermoid carcinoma
3979 Mucolipidosis III alpha/beta
3980 Mucolipidosis type 4
3981 Mucopolysaccharidosis
3982 Mucopolysaccharidosis type I
3983 Mucopolysaccharidosis type II
3984 Mucopolysaccharidosis type III
3985 Mucopolysaccharidosis type IIIA
3986 Mucopolysaccharidosis type IIIB
3987 Mucopolysaccharidosis type IIIC
3988 Mucopolysaccharidosis type IIID
3989 Mucopolysaccharidosis type VI
3990 Mucopolysaccharidosis type VII
3991 Muenke Syndrome
3992 Muir-Torre syndrome
3993 Mulibrey Nanism
3994 Muller Barth Menger syndrome
3995 Mullerian agenesis
3996 Mullerian aplasia
3997 Multicentric Castleman’s Disease
3998 Multicentric osteolysis nephropathy
3999 Multicentric reticulohistiocytosis
4000 Multicore disease
4001 Multicystic renal dysplasia, bilateral
4002 Multifocal choroiditis
4003 Multifocal fibrosclerosis
4004 Multifocal lymphangioendotheliomatosis with thrombocytopenia
4005 Multifocal motor neuropathy with conduction block
4006 Multiple carboxylase deficiency, biotin responsive
4007 Multiple carboxylase deficiency, propionic acidemia
4008 Multiple congenital anomalies mental retardation, growth failure
and cleft lip palate
4009 Multiple endocrine neoplasia type 1
4010 Multiple endocrine neoplasia type 2
4011 Multiple endocrine neoplasia type 2A
4012 Multiple endocrine neoplasia type 2B
4013 Multiple epiphyseal dysplasia
4014 Multiple epiphyseal dysplasia 1
4015 Multiple epiphyseal dysplasia 2

4016 Multiple epiphyseal dysplasia 3
4017 Multiple epiphyseal dysplasia 4
4018 Multiple epiphyseal dysplasia 5
4019 Multiple familial trichoepithelioma
4020 Multiple familial trichoepithelioma 1
4021 Multiple familial trichoepithelioma 2
4022 Multiple fibrofolliculoma familial
4023 Multiple joint dislocations metaphyseal dysplasia
4024 Multiple myeloma
4025 Multiple pterygium syndrome Aslan type
4026 Multiple pterygium syndrome Escobar type
4027 Multiple pterygium syndrome lethal type
4028 Multiple pterygium syndrome X-linked
4029 Multiple respiratory chain enzyme deficiencies
4030 Multiple self healing squamous epithelioma
4031 Multiple sulfatase deficiency
4032 Multiple synostoses syndrome 1
4033 Multiple synostoses syndrome 2
4034 Multiple system atrophy
4035 Multiple system atrophy (MSA) with orthostatic hypotension
4036 Multiple vertebral anomalies unusual facies
4037 Mumps
4038 Munchausen by proxy syndrome
4039 Mungan syndrome
4040 MURCS association
4041 Muscle eye brain disease
4042 Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus
4043 Muscular dystrophy
4044 Muscular Dystrophy - Late Onset
4045 Muscular dystrophy limb girdle type 2A, Erb type
4046 Muscular dystrophy white matter spongiosis
4047 Muscular dystrophy, congenital, infantile with cataract and
hypogonadism
4048 Muscular dystrophy, congenital, megaconial type
4049 Muscular dystrophy, congenital, merosin-positive
4050 Muscular fibrosis multifocal obstructed vessels
4051 Muscular phosphorylase kinase deficiency
4052 Mutagen sensitivity
4053 Mutiple parosteal osteochondromatous proliferations
4054 Myalgia eosinophilia associated with tryptophan

4055 Myasthenia gravis
4056 Myasthenia gravis congenital
4057 Myasthenia gravis, limb-girdle
4058 Mycetoma
4059 Mycobacterium Abscessus
4060 Mycobacterium Avium Complex
4061 Mycobacterium Chelonae
4062 Mycobacterium fortuitum
4063 Mycobacterium Gordonae
4064 Mycobacterium Kansasii
4065 Mycobacterium Malmoense
4066 Mycobacterium Marinum
4067 Mycobacterium tuberculosis, susceptibility to infection by
4068 Mycobacterium Xenopi
4069 Mycoplasmal pneumonia
4070 Mycosis fungoides
4071 Myelitis
4072 Myelocerebellar disorder
4073 Myelocytic leukemia-like syndrome, familial, chronic
4074 Myelodysplastic syndromes
4075 Myelodysplastic/myeloproliferative disease
4076 Myelofibrosis
4077 Myeloid sarcoma
4078 Myeloid splenomegaly
4079 Myelomeningocele
4080 Myeloperoxidase deficiency
4081 MYH7-related scapuloperoneal myopathy
4082 MYH9 related thrombocytopenia
4083 MYH-associated polyposis
4084 Myhre syndrome
4085 Myocarditis
4086 Myoclonic astatic epilepsy
4087 Myoclonus ataxia
4088 Myoclonus cerebellar ataxia deafness
4089 Myoclonus epilepsy
4090 Myoclonus epilepsy partial seizure
4091 Myoclonus hereditary progressive distal muscular atrophy
4092 Myoclonus with epilepsy with ragged red fibers
4093 Myoepithelial carcinoma
4094 Myofibrillar lysis

4095 Myofibrillar myopathy
4096 Myoglobinuria dominant form
4097 Myoglobinuria recurrent
4098 Myokymia with neonatal epilepsy
4099 Myopathic carnitine deficiency
4100 Myopathy congenital
4101 Myopathy congenital multicore with external ophthalmoplegia
4102 Myopathy growth and mental retardation hypospadias
4103 Myopathy mitochondrial cataract
4104 Myopathy with lysis of myofibrils
4105 Myopathy, limb-girdle, with bone fragility
4106 Myopathy, mitochondrial progressive, with congenital cataract,
hearing loss, and developmental delay
4107 Myopia 6
4108 Myostatin-related muscle hypertrophy
4109 Myotonia atrophica
4110 Myotonia congenita autosomal dominant
4111 Myotonia congenita autosomal recessive
4112 Myotonia mental retardation skeletal anomalies
4113 Myotonic dystrophy
4114 Myotonic dystrophy type 1
4115 Myotonic dystrophy type 2
4116 Myotubular myopathy
4117 Myxoid liposarcoma
4118 Myxoma-spotty pigmentation-endocrine overactivity
4119 Myxopapillary ependymoma
4120 Myxozoa
4121 N acetyltransferase deficiency
4122 N syndrome
4123 Nablus mask-like facial syndrome
4124 N-acetyl-alpha-D-galactosaminidase deficiency type III
4125 N-acetylglutamate synthetase deficiency
4126 NADH cytochrome B5 reductase deficiency
4127 Naegeli syndrome
4128 Nager acrofacial dysostosis
4129 Naguib-Richieri-Costa syndrome
4130 Nail dysplasia, isolated congenital
4131 Nail patella syndrome
4132 Nakajo Nishimura syndrome
4133 Nakajo syndrome

4134 Nance-Horan syndrome
4135 Narcolepsy
4136 Narrow oral fissure short stature cone shaped epiphyses
4137 Nasal cavity cancer, childhood
4138 Nasal polyposis, familial
4139 Nasodigitoacoustic syndrome
4140 Nasopalpebral lipoma coloboma syndrome
4141 Nasopharyngeal cancer, childhood
4142 Nasopharyngeal carcinoma
4143 Natal teeth, intestinal pseudoobstruction and patent ductus
4144 Nathalie syndrome
4145 Native American myopathy
4146 Naxos disease
4147 Necrobiotic xanthogranuloma
4148 Necrotizing enterocolitis
4149 Necrotizing fasciitis
4150 Negative rheumatoid factor polyarthritis
4151 Neisseria meningitidis infection
4152 Nelson syndrome
4153 Nemaline myopathy 1
4154 Nemaline myopathy 2
4155 Nemaline myopathy 3
4156 Nemaline myopathy 4
4157 Nemaline myopathy 5
4158 Nemaline myopathy 6
4159 Neonatal adrenoleukodystrophy
4160 Neonatal hemochromatosis
4161 Neonatal herpes
4162 Neonatal hypothyroidism
4163 Neonatal intrahepatic cholestasis caused by citrin deficiency
4164 Neonatal meningitis
4165 Neonatal ovarian cyst
4166 Neonatal progeroid syndrome
4167 Neonatal stroke
4168 Neonatal systemic lupus erythematosus
4169 Nephrocalcinosis
4170 Nephrogenic diabetes insipidus
4171 Nephrogenic Systemic Fibrosis
4172 Nephronophthisis 1
4173 Nephronophthisis familial adult spastic quadriparesis

4174 Nephropathic cystinosis
4175 Nephropathy familial with hyperuricemia
4176 Nephropathy, deafness, and hyperparathyroidism
4177 Nephrosclerosis
4178 Nephrosis deafness urinary tract digital malformation
4179 Nephrotic syndrome ocular anomalies
4180 Nephrotic syndrome, idiopathic, steroid-resistant
4181 Nerve sheath neoplasm
4182 Netherton syndrome
4183 Neu Laxova syndrome
4184 Neuhauser Daly Magnelli syndrome
4185 Neuhauser Eichner Opitz syndrome
4186 Neural crest tumor
4187 Neuroacanthocytosis
4188 Neuroaxonal dystrophy renal tubular acidosis
4189 Neuroaxonal dystrophy, infantile
4190 Neuroblastoma
4191 Neurocutaneous melanosis
4192 Neuroectodermal endocrine syndrome
4193 Neuroendocrine carcinoma of the cervix
4194 Neuroepithelioma
4195 Neurofaciodigitorenal syndrome
4196 Neuroferritinopathy
4197 Neurofibroma
4198 Neurofibromatosis
4199 Neurofibromatosis type 1
4200 Neurofibromatosis type 2
4201 Neurofibromatosis type 3A
4202 Neurofibromatosis type 3B
4203 Neurofibromatosis type 4
4204 Neurofibromatosis type 5
4205 Neurofibromatosis type 6
4206 Neurofibromatosis-Noonan syndrome
4207 Neurofibromatosis-pheochromocytoma-duodenal carcinoid
syndrome
4208 Neurofibrosarcoma
4209 Neurogenic diabetes insipidus
4210 Neurogenic hypertension
4211 Neuroleptic malignant syndrome
4212 Neuroma biliary tract

4213 Neuromyelitis optica spectrum disorder
4214 Neuronal ceroid lipofuscinoses
4215 Neuronal interstitial dysplasia
4216 Neuronal intranuclear inclusion disease
4217 Neuropathy ataxia retinitis pigmentosa syndrome
4218 Neuropathy hereditary sensory and autonomic type 1
4219 Neuropathy sensory spastic paraplegia
4220 Neuropathy, congenital, with arthrogryposis multiplex
4221 Neuropathy, distal hereditary motor, Jerash type
4222 Neuropathy, hereditary motor and sensory, LOM type
4223 Neuropathy, hereditary motor and sensory, Okinawa type
4224 Neuropathy, hereditary motor and sensory, Russe type
4225 Neurosyphilis
4226 Neurotoxicity syndromes
4227 Neutral lipid storage disease with myopathy
4228 Neutropenia chronic familial
4229 Neutropenia lethal congenital with eosinophilia
4230 Neutropenia monocytopenia deafness
4231 Neutrophil-specific granule deficiency
4232 Nevi flammei, familial multiple
4233 Nevo syndrome
4234 Nevoid basal cell carcinoma syndrome
4235 Nevus of Ito
4236 New daily-persistent headache
4237 Nguyen syndrome
4238 Nicolaides Baraitser syndrome
4239 Niemann-Pick disease
4240 Niemann-Pick disease type B
4241 Niemann-Pick disease type C1
4242 Niemann-Pick disease type C2
4243 Niemann-Pick disease type D
4244 Nievergelt syndrome
4245 Night blindness skeletal anomalies unusual facies
4246 Nijmegen breakage syndrome
4247 Nipah virus encephalitis
4248 Noble Bass Sherman syndrome
4249 Nocardiosis
4250 Nodular melanoma
4251 Nodular nonsuppurative panniculitis
4252 Nodular regenerative hyperplasia

4253 Noma
4254 Non 24 hour sleep wake disorder
4255 Non functioning pancreatic endocrine tumor
4256 Non-A-E hepatitis
4257 Nonalcoholic steatohepatitis
4258 Nonbullous congenital ichthyosiform erythroderma
4259 Nondystrophic myotonia
4260 Non-dystrophic myotonic disorders
4261 Non-Hodgkin lymphoma, childhood
4262 Non-Hodgkin lymphoma, during pregnancy
4263 Non-involuting congenital hemangioma
4264 Non-lissencephalic cortical dysplasia
4265 Nonmedullary thyroid carcinoma, with or without cell oxyphilia
4266 Nonseminomatous germ cell tumor
4267 Non-small cell lung cancer, childhood
4268 Nonspherocytic hemolytic anemia due to hexokinase deficiency
4269 Nonsyndromic hereditary sensorineural hearing loss
4270 Noonan syndrome
4271 Noonan syndrome 1
4272 Noonan syndrome 2
4273 Noonan syndrome 3
4274 Noonan syndrome 4
4275 Noonan syndrome 5
4276 Noonan syndrome 6
4277 Noonan-like syndrome with loose anagen hair
4278 Noonan-like/multiple giant cell lesion syndrome
4279 Normokalemic periodic paralysis
4280 Normophosphatemic familial tumoral calcinosis
4281 Norrie disease
4282 North Carolina macular dystrophy
4283 Norum disease
4284 Notalgia paresthetica
4285 Nova syndrome
4286 Novak syndrome
4287 Nuchal bleb, familial
4288 Nystagmus 1, congenital, X- linked
4289 Nystagmus 2, congenital, autosomal dominant
4290 Nystagmus 3, congenital, autosomal dominant
4291 Nystagmus 4, congenital, autosomal dominant
4292 Nystagmus, congenital motor, autosomal recessive

4293 Nystagmus, hereditary vertical
4294 Nystagmus, myoclonic
4295 O Donnell Pappas syndrome
4296 Occipital horn syndrome
4297 Occult spinal dysraphism
4298 Ochoa syndrome
4299 Ochronosis
4300 Ocular albinism type 1
4301 Ocular cicatricial pemphigoid
4302 Ocular colobomas, ichthyosis, brain malformations and endocrine
abnormalities
4303 Ocular melanoma
4304 Ocular motility disorders
4305 Ocular Muscular Dystrophy
4306 Ocular neuromyotonia
4307 Ocular toxoplasmosis
4308 Oculo cerebro acral syndrome
4309 Oculo cerebro osseous syndrome
4310 Oculo digital syndrome
4311 Oculo skeletal renal syndrome
4312 Oculoauriculofrontonasal syndrome
4313 Oculo-cerebral dysplasia
4314 Oculocerebral hypopigmentation syndrome type Preus
4315 Oculocerebral syndrome with hypopigmentation
4316 Oculocerebrocutaneous syndrome
4317 Oculocutaneous albinism
4318 Oculocutaneous albinism type 1
4319 Oculocutaneous albinism type 1B
4320 Oculocutaneous albinism type 2
4321 Oculocutaneous albinism type 3
4322 Oculodentodigital dysplasia
4323 Oculodentodigital dysplasia dominant
4324 Oculodentoosseous dysplasia recessive
4325 Oculoectodermal syndrome
4326 Oculofaciocardiodental syndrome
4327 Oculomaxillofacial dysostosis
4328 Oculomotor apraxia Cogan type
4329 Oculootofacial dysplasia
4330 Oculopharyngeal muscular dystrophy
4331 Oculorenocerebellar syndrome

4332 Odonto onycho dysplasia with alopecia
4333 Odontogenic myxoma
4334 Odontoma
4335 Odontoma dysphagia syndrome
4336 Odontomicronychial dysplasia
4337 Odontoonychodermal dysplasia
4338 Ogilvie syndrome
4339 Oguchi disease
4340 Ohtahara syndrome
4341 Okamoto syndrome
4342 Oligoastrocytoma
4343 Oligodactyly tetramelic postaxial
4344 Oligodendroglioma
4345 Oligomeganephronic renal hypoplasia
4346 Oliver syndrome
4347 Olivopontocerebellar atrophy
4348 Olivopontocerebellar atrophy deafness
4349 Ollier disease
4350 Olmsted syndrome
4351 Omenn syndrome
4352 Omodysplasia 1
4353 Omodysplasia 2
4354 Omphalocele cleft palate syndrome lethal
4355 Omphalocele exstrophy imperforate anus
4356 Omphalomesenteric cyst
4357 Omsk hemorrhagic fever
4358 Onchocerciasis
4359 Oncogenic osteomalacia
4360 Onychotrichodysplasia and neutropenia
4361 Ophthalmoplegic Muscular dystrophy
4362 Opisthorchiasis
4363 Opitz G/BBB syndrome
4364 Opsismodysplasia
4365 Opthalmic icthyosis
4366 Opthalmomandibulomelic dysplasia
4367 Opthalmoplegia mental retardation lingua scrotalis
4368 Opthalmoplegia myalgia tubular aggregates
4369 Opthalmoplegia progressive external scoliosis
4370 Optic atrophy 1
4371 Optic atrophy 1 and deafness

4372 Optic atrophy 2
4373 Optic atrophy 5
4374 Optic atrophy 6
4375 Optic atrophy and cataract, autosomal dominant
4376 Optic atrophy opthalmoplegia ptosis deafness myopia
4377 Optic atrophy polyneuropathy deafness
4378 Optic nerve hypoplasia, familial bilateral
4379 Optic neuritis
4380 Optic neuropathy, anterior ischemic
4381 Optic pathway glioma
4382 Opticoacoustic nerve atrophy dementia
4383 Oral cancer
4384 Oral leukoplakia
4385 Oral lichen planus
4386 Oral pharyngeal disorders
4387 Oral squamous cell carcinoma
4388 Oral submucous fibrosis
4389 Orbital lymphangioma
4390 Orbital lymphoma
4391 Orbital melanoma
4392 Orbital varix
4393 Organic acidemia
4394 Organic mood syndrome
4395 Ornithine transcarbamylase deficiency
4396 Ornithine translocase deficiency syndrome
4397 Ornithinemia
4398 Orofaciodigital syndrome 1
4399 Orofaciodigital syndrome 10
4400 Orofaciodigital syndrome 11
4401 Orofaciodigital syndrome 12
4402 Orofaciodigital syndrome 13
4403 Orofaciodigital syndrome 2
4404 Orofaciodigital syndrome 3
4405 Orofaciodigital syndrome 4
4406 Orofaciodigital syndrome 5
4407 Orofaciodigital syndrome 6
4408 Orofaciodigital syndrome 8
4409 Orofaciodigital syndrome 9
4410 Orofaciodigital syndromes
4411 Oro-mandibular-limb hypogenesis syndrome

4412 Oropharyngeal cancer, adult
4413 Oropharyngeal cancer, childhood
4414 Orotic aciduria type 1
4415 Orstavik Lindemann Solberg syndrome
4416 Oslam syndrome
4417 OSMED Syndrome
4418 Ossicular Malformations, familial
4419 Ossification of the posterior longitudinal ligament of the spine
4420 Osteoarthropathy of fingers familial
4421 Osteochondritis dissecans
4422 Osteochondroma
4423 Osteodysplasia familial Anderson type
4424 Osteodysplasty precocious of Danks Mayne and Kozlowski
4425 Osteoectasia familial
4426 Osteofibrous dysplasia
4427 Osteogenesis imperfecta
4428 Osteogenesis imperfecta congenita microcephaly and cataracts
4429 Osteogenesis imperfecta Levin type
4430 Osteogenesis imperfecta type 1
4431 Osteogenesis imperfecta type 1A
4432 Osteogenesis imperfecta type 2A
4433 Osteogenesis imperfecta type 2B
4434 Osteogenesis imperfecta type 3
4435 Osteogenesis imperfecta type 4
4436 Osteogenesis imperfecta type 5
4437 Osteogenesis imperfecta type 6
4438 Osteogenesis imperfecta type 7
4439 Osteogenesis imperfecta type 8
4440 Osteogenesis imperfecta type 9
4441 Osteoglophonic dysplasia
4442 Osteolysis syndrome recessive
4443 Osteomalacia
4444 Osteomyelitis
4445 Osteopathia striata cranial sclerosis
4446 Osteopathia striata with pigmentary dermopathy including white
forelock
4447 Osteopenia and sparse hair
4448 Osteopetrosis
4449 Osteopetrosis and infantile neuroaxonal dystrophy
4450 Osteopetrosis autosomal dominant type 1

4451 Osteopetrosis autosomal dominant type 2
4452 Osteopetrosis autosomal recessive 1
4453 Osteopetrosis autosomal recessive 2
4454 Osteopetrosis autosomal recessive 3
4455 Osteopetrosis autosomal recessive 4
4456 Osteopetrosis autosomal recessive 5
4457 Osteopetrosis autosomal recessive 6
4458 Osteopetrosis autosomal recessive 7
4459 Osteopoikilosis
4460 Osteopoikilosis and dacryocystitis
4461 Osteoporosis oculocutaneous hypopigmentation syndrome
4462 Osteoporosis-pseudoglioma syndrome
4463 Osteosarcoma
4464 Osteosclerosis abnormalities of nervous system and meninges
4465 Osteosclerosis with ichthyosis and premature ovarian failure
4466 Otodental dysplasia
4467 Otofaciocervical syndrome
4468 Otoonychoperoneal syndrome
4469 Oto-Palatal-digital syndrome
4470 Oto-palato-digital syndrome type 1
4471 Oto-palato-digital syndrome type 2
4472 Otosclerosis, familial
4473 Ouvrier Billson syndrome
4474 Ovarian cancer
4475 Ovarian cancer, childhood
4476 Ovarian carcinosarcoma
4477 Ovarian epithelial cancer
4478 Ovarian germ cell tumor
4479 Ovarian insufficiency due to FSH resistance
4480 Ovarian insufficiency, familial
4481 Ovarian low malignant potential tumor
4482 Ovarian remnant syndrome
4483 Ovarian small cell carcinoma
4484 Overgrowth radial ray defect arthrogryposis
4485 Pachydermoperiostosis
4486 Pachygyria
4487 Pachygyria with mental retardation and seizures
4488 Pachygyria, frontotemporal
4489 Pachyonychia congenita
4490 Pachyonychia congenita type 1

4491 Pachyonychia congenita type 2
4492 Pacman dysplasia
4493 Paget disease of bone, familial
4494 Paget disease of the breast
4495 Paget disease, extramammary
4496 Paget disease, juvenile
4497 PAGOD syndrome
4498 Pagon Stephan syndrome
4499 Paine syndrome
4500 Palant cleft palate syndrome
4501 Palatopharyngeal incompetence
4502 Pallidopyramidal syndrome
4503 Pallister W syndrome
4504 Pallister-Hall syndrome
4505 Pallister-Killian mosaic syndrome
4506 Palmer Pagon syndrome
4507 Palmoplantar keratoderma
4508 Palmoplantar keratoderma of Sybert
4509 Palmoplantar keratoderma, epidermolytic
4510 Pancreatic adenoma
4511 Pancreatic agenesis
4512 Pancreatic beta cell agenesis with neonatal diabetes mellitus
4513 Pancreatic cancer
4514 Pancreatic cancer, childhood
4515 Pancreatic carcinoma, familial
4516 Pancreatic islet cell tumors
4517 Pancreatic lipomatosis duodenal stenosis
4518 Pancreatitis, pediatric
4519 Pancreatoblastoma
4520 PANDAS
4521 Panhypopituitarism X-linked
4522 Panostotic fibrous dysplasia
4523 Pantothenate kinase-associated neurodegeneration
4524 Panuveitis
4525 Papillary cystadenocarcinoma
4526 Papillary eccrine adenoma
4527 Papillary renal cell carcinoma
4528 Papilledema
4529 Papillon Lefevre syndrome
4530 Papular mucinosis

4531 Papular urticaria
4532 Paracoccidioidomycosis
4533 Paraganglioma and gastric stromal sarcoma
4534 Paragangliomas 1
4535 Paragangliomas 2
4536 Paragangliomas 3
4537 Paragangliomas 4
4538 Paragonimiasis
4539 Parainfluenza virus type 3
4540 Paralysis agitans, juvenile, of Hunt
4541 Paramyotonia congenita
4542 Paranasal sinus cancer, adult
4543 Paranasal sinus cancer, childhood
4544 Paraneoplastic cerebellar degeneration
4545 Paraneoplastic Neurologic Disorders
4546 Paraomphalocele
4547 Paraplegia
4548 Parapsoriasis
4549 Paraquat lung
4550 Parastremmatic dwarfism
4551 Parathyroid cancer, childhood
4552 Parathyroid carcinoma
4553 PARC syndrome
4554 Parenchymatous cortical degeneration of cerebellum
4555 Paris-Trousseau thrombocytopenia
4556 Parkes Weber syndrome
4557 Parkinson disease type 3
4558 Parkinson disease type 9
4559 Parkinsonism, early onset with mental retardation
4560 Paroxysmal cold hemoglobinuria
4561 Paroxysmal hemicrania
4562 Paroxysmal nocturnal hemoglobinuria
4563 Paroxysmal ventricular fibrillation
4564 Pars planitis
4565 Parsonage Turner syndrome
4566 Partial agenesis of corpus callosum
4567 Partial atrioventricular canal
4568 Partial deletion of Y
4569 Partial lissencephaly
4570 Partington Anderson syndrome

4571 Partington X-linked mental retardation syndrome
4572 Parvovirus antenatal infection
4573 Passos-Bueno syndrome
4574 Pasteurella multocida infection
4575 Patel Bixler syndrome
4576 Patella hypoplasia mental retardation
4577 Patent ductus arteriosus
4578 Patent ductus venosus
4579 Patterned dystrophy of retinal pigment epithelium
4580 Patterson pseudoleprechaunism syndrome
4581 Patterson Stevenson syndrome
4582 Pauciarticular chronic arthritis
4583 Pauciarticular onset juvenile idiopathic arthritis
4584 Pearson syndrome
4585 Pectus carinatum
4586 Pediatric Crohns disease
4587 Pediatric multiple sclerosis
4588 Pediatric T-cell leukemia
4589 Pediatric ulcerative colitis
4590 Peeling skin syndrome
4591 PEHO syndrome
4592 Pelger-Huet anomaly
4593 Pelizaeus-Merzbacher disease
4594 Pelizaeus-Merzbacher disease, late-onset type
4595 Pellagra
4596 Pellagra like syndrome
4597 Pelvic dysplasia arthrogryposis of lower limbs
4598 Pelvic lipomatosis
4599 Pemphigoid gestationis
4600 Pemphigus
4601 Pemphigus and fogo selvagem
4602 Pemphigus foliaceus
4603 Pemphigus vulgaris
4604 Pemphigus vulgaris, familial
4605 Pendred syndrome
4606 Penile cancer, adult
4607 Penile cancer, childhood
4608 Penis agenesis
4609 Penoscrotal transposition
4610 Pentalogy of Cantrell

4611 Pentosuria
4612 Penttinen-Aula syndrome
4613 PEPCK 1 deficiency
4614 PEPCK 2 deficiency
4615 Peptidic growth factors deficiency
4616 Periarteritis nodosa
4617 Pericardium absent mental retardation short stature
4618 Perilymphatic fistula
4619 Perimyositis
4620 Periodic fever, aphthous stomatitis, pharyngitis and adenitis
4621 Periodic fever, familial, autosomal dominant
4622 Peripartum cardiomyopathy
4623 Peripheral T-cell lymphoma
4624 Periventricular leukomalacia
4625 Permanent neonatal diabetes mellitus
4626 Perniosis
4627 Peroxisome biogenesis disorders
4628 Perry syndrome
4629 Persistence of mullerian derivatives with lymphangiectasia and
postaxial polydactyly
4630 Persistent Mullerian duct syndrome
4631 Persistent truncus arteriosus
4632 Peters anomaly
4633 Peters plus syndrome
4634 Petit-Fryns syndrome
4635 Peutz Jeghers syndrome
4636 Peyronie disease
4637 Pfeiffer Kapferer syndrome
4638 Pfeiffer Mayer syndrome
4639 Pfeiffer Palm Teller syndrome
4640 Pfeiffer Rockelein syndrome
4641 Pfeiffer syndrome
4642 Pfeiffer Tietze Welte syndrome
4643 PHACE syndrome
4644 Phacomatosis pigmentokeratotica
4645 Phacomatosis pigmentovascularis
4646 PHAVER syndrome
4647 Phenobarbital antenatal infection
4648 Phenylketonuria
4649 Pheochromocytoma

4650 Pheochromocytoma, childhood
4651 Pheochromocytoma-islet cell tumor syndrome
4652 Philadelphia-negative chronic myeloid leukemia
4653 Phocomelia ectrodactyly deafness sinus arrhythmia
4654 Phocomelia-ectrodactyly ear malformation deafness and sinus
arrhythmia
4655 Phosphoglucomutase deficiency type 2
4656 Phosphoglucomutase deficiency type 3
4657 Phosphoglucomutase deficiency type 4
4658 Phosphoglycerate kinase deficiency
4659 Phosphoglycerate mutase deficiency
4660 Phosphomannoisomerase deficiency
4661 Phosphoribosylpyrophosphate synthetase deficiency
4662 Photosensitive epilepsy
4663 Phyllodes tumor of the prostate
4664 PIBIDS syndrome
4665 Picardi-Lassueur-Little syndrome
4666 Pick's disease
4667 Piebaldism
4668 Piepkorn Karp Hickok syndrome
4669 Pierre Marie cerebellar ataxia
4670 Pierre Robin sequence
4671 Pierre Robin sequence with pectus excavatum and rib and
scapular anomalies
4672 Pierre Robin syndrome skeletal dysplasia polydactyly
4673 Pierson syndrome
4674 Pigmentary retinopathy
4675 Pigment-dispersion syndrome
4676 Pigmented purpuric eruption
4677 Pigmented villonodular synovitis
4678 Pili annulati
4679 Pili multigemini
4680 Pili torti
4681 Pili torti developmental delay neurological abnormalities
4682 Pili torti onychodysplasia
4683 Pillay syndrome
4684 Pilo dento ungular dysplasia microcephaly
4685 Pilocytic astrocytoma
4686 Pilodental dysplasia with refractive errors
4687 Pilomatrixoma

4688 Pilotto syndrome
4689 Pineal parenchymal tumors of intermediate differentiation
4690 Pineoblastoma
4691 Pineoblastoma, childhood
4692 Pineocytoma
4693 Pinheiro Freire-Maia Miranda syndrome
4694 Pinta
4695 Piriformis syndrome
4696 Pitt syndrome
4697 Pitt-Hopkins syndrome
4698 Pituitary cancer
4699 Pituitary dwarfism with large sella turcica
4700 Pituitary hormone deficiency, combined 1
4701 Pituitary hormone deficiency, combined 2
4702 Pituitary hormone deficiency, combined 3
4703 Pituitary hormone deficiency, combined 4
4704 Pityriasis lichenoides
4705 Pityriasis lichenoides chronica
4706 Pityriasis lichenoides et varioliformis acuta
4707 Pityriasis rotunda
4708 Pityriasis rubra pilaris
4709 Piussan Lenaerts Mathieu syndrome
4710 Placenta disorder
4711 Plagiocephaly
4712 Plagiocephaly and X-linked mental retardation
4713 Plasma cell leukemia
4714 Plasma thromboplastin antecedent deficiency
4715 Plasmalogens synthesis deficiency isolated
4716 Plasminogen activator inhibitor type 1 deficiency
4717 Platelet disorder, familial, with associated myeloid malignancy
4718 Platelet storage pool deficiency
4719 Platyspondylic lethal skeletal dysplasia Torrance type
4720 Pleoconial myopathy with salt craving
4721 Pleomorphic malignant fibrous histiocytoma
4722 Pleomorphic xanthoastrocytoma
4723 Pleuropulmonary blastoma
4724 Plexosarcoma
4725 Plummer Vinson syndrome
4726 Pneumocystic carinii pneumonia
4727 Pneumocystosis

4728 Pneumonia, eosinophilic
4729 Podder-Tolmie syndrome
4730 POEMS syndrome
4731 Poikiloderma with neutropenia
4732 Pointer syndrome
4733 Poland syndrome
4734 Poliomyelitis
4735 Polyarteritis nodosa
4736 Polyarticular onset juvenile idiopathic arthritis
4737 Polycystic bone disease
4738 Polycystic kidneys, severe infantile with tuberous sclerosis
4739 Polycystic lipomembranous osteodysplasia with sclerosing
leukoencephalopathy
4740 Polycystic liver disease
4741 Polycythemia vera
4742 Polydactyly
4743 Polydactyly cleft lip palate psychomotor retardation
4744 Polydactyly myopia syndrome
4745 Polydactyly postaxial
4746 Polydactyly postaxial dental and vertebral
4747 Polydactyly preaxial type 1
4748 Polydactyly preaxial type 4
4749 Polydactyly syndrome middle ray duplication
4750 Polyembryoma
4751 Polyglucosan body disease, adult
4752 Polymicrogyria turricephaly hypogenitalism
4753 Polymorphic reticulosis
4754 Polymorphous low-grade adenocarcinoma
4755 Polymyositis
4756 Polyneuropathy mental retardation acromicria premature
menopause
4757 Polyomavirus allograft nephropathy
4758 Polyosteolysis/hyperostosis syndrome
4759 Polyostotic osteolytic dysplasia, hereditary expansile
4760 Polysyndactyly cardiac malformation
4761 Polysyndactyly trigonocephaly agenesis of corpus callosum
4762 Poncet-Spiegler's cylindroma
4763 Pontine tegmental cap dysplasia
4764 Pontocerebellar hypoplasia
4765 Pontocerebellar hypoplasia type 1

4766 Pontocerebellar hypoplasia type 2
4767 Pontocerebellar hypoplasia type 3
4768 Pontocerebellar hypoplasia type 4
4769 Pontocerebellar hypoplasia type 5
4770 Pontocerebellar hypoplasia type 6
4771 Pontoneocerebellar Hypoplasia
4772 Popliteal pterygium syndrome
4773 Popliteal pterygium syndrome lethal type
4774 Porencephaly
4775 Porencephaly cerebellar hypoplasia internal malformations
4776 Porokeratosis of Mibelli
4777 Porokeratosis plantaris palmaris et disseminata
4778 Porokeratosis, disseminated superficial actinic 1
4779 Porokeratosis, disseminated superficial actinic 2
4780 Porphyria
4781 Porphyria cutanea tarda
4782 Portal hypertension due to infrahepatic block
4783 Positive rheumatoid factor polyarthritis
4784 Post Polio syndrome
4785 Postaxial polydactyly mental retardation
4786 Posterior column ataxia
4787 Posterior column ataxia with retinitis pigmentosa
4788 Posterior urethral valves
4789 Posterior uveitis
4790 Posterior valve urethra
4791 Post-infectious myocarditis
4792 Postorgasmic illness syndrome
4793 Post-Streptococcal Neurologic Disorders
4794 Post-transplant lymphoproliferative disease
4795 Post-traumatic epilepsy
4796 Postural orthostatic tachycardia syndrome
4797 Potassium aggravated myotonia
4798 Potato nose
4799 Potocki-Lupski syndrome
4800 Potocki-Shaffer syndrome
4801 Potter syndrome
4802 Potter syndrome type 1
4803 Potter syndrome type 2
4804 Potter syndrome type 3
4805 Potter syndrome type 4

4806 Powell Buist Stenzel syndrome
4807 PPM-X syndrome
4808 Prader-Willi habitus, osteopenia, and camptodactyly
4809 Prader-Willi syndrome
4810 Prata Libéral Gonçalves syndrome
4811 Preaxial deficiency, postaxial polydactyly and hypospadias
4812 Precocious epileptic encephalopathy
4813 Precocious myoclonic encephalopathy
4814 Precocious puberty
4815 Precocious puberty, gonadotropin-dependent
4816 Preeyasombat Varavithya syndrome
4817 Prekallikrein deficiency, congenital
4818 Premature aging Okamoto type
4819 Premature atherosclerosis with photomyoclonic epilepsy,
deafness, diabetes mellitus, nephropathy, an
4820 Premature ovarian failure, familial
4821 Presenile dementia, Kraepelin type
4822 Priapism
4823 Prieto X-linked mental retardation syndrome
4824 Primary agammaglobulinemia
4825 Primary amebic meningoencephalitis
4826 Primary angiitis of the central nervous system
4827 Primary basilar impression
4828 Primary biliary cirrhosis
4829 Primary carnitine deficiency
4830 Primary ciliary dyskinesia
4831 Primary cortisol resistance
4832 Primary effusion lymphoma
4833 Primary familial xanthomatosis with involvement and
calcification of the adrenal galnds
4834 Primary gastrointestinal melanoma
4835 Primary hyperoxaluria type 1
4836 Primary hyperoxaluria type 2
4837 Primary hyperoxaluria type 3
4838 Primary lateral sclerosis
4839 Primary malignant lymphoma
4840 Primary malignant melanoma of the cervix
4841 Primary malignant melanoma of the conjunctiva
4842 Primary open angle glaucoma juvenile onset 1
4843 Primary orthostatic tremor

4844 Primary pigmented nodular adrenocortical disease
4845 Primary progressive aphasia
4846 Primary release disorder of platelets
4847 Primary sclerosing cholangitis
4848 Primary tubular proximal acidosis
4849 Primrose syndrome
4850 Prinzmetal's variant angina
4851 Procarcinoma
4852 Proconvertin deficiency, congenital
4853 Progeria
4854 Progeria variant syndrome Ruvalcaba type
4855 Progeroid short stature with pigmented nevi
4856 Progeroid syndrome Petty type
4857 Progeroid syndrome, Penttinen type
4858 Prognathism mandibular
4859 Progressive bifocal chorioretinal atrophy
4860 Progressive black carbon hyperpigmentation of infancy
4861 Progressive bulbar palsy
4862 Progressive familial heart block type 1A
4863 Progressive familial heart block type 1B
4864 Progressive familial heart block type 2
4865 Progressive hemifacial atrophy
4866 Progressive kinking of the hair, acquired
4867 Progressive multifocal leukoencephalopathy
4868 Progressive myoclonic epilepsy
4869 Progressive non-fluent aphasia
4870 Progressive osseous heteroplasia
4871 Progressive pseudorheumatoid arthropathy of childhood
4872 Progressive supranuclear palsy
4873 Progressive supranuclear palsy atypical
4874 Progressive transformation of germinal centers
4875 Prolactinoma, familial
4876 Prolerating trichilemmal cyst
4877 Prolidase deficiency
4878 Proopiomelanocortin deficiency
4879 Properdin deficiency
4880 Properdin deficiency, X-linked
4881 Propionic acidemia
4882 Prosencephaly cerebellar dysgenesis
4883 Prosopagnosia, hereditary

4884 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE
DEFICIENCY
4885 Prostatic malacoplakia associated with prostatic abscess
4886 Prostatic stromal proliferation of uncertain malignant potential
4887 Protein R deficiency
4888 Protein S deficiency
4889 Proteus like syndrome mental retardation eye defect
4890 Proteus syndrome
4891 Prothrombin thrombophilia
4892 Protoporphyria
4893 Proud Levine Carpenter syndrome
4894 Proximal chromosome 18q deletion syndrome
4895 Proximal spinal muscular atrophy
4896 Prune belly syndrome
4897 Prurigo nodularis
4898 Pruritic urticarial papules plaques of pregnancy
4899 Pseudo Pelger-Huet anomaly
4900 Pseudoachondroplasia
4901 Pseudoachondroplastic dysplasia 2
4902 Pseudoainhum
4903 Pseudoaminopterin syndrome
4904 Pseudoarylsulfatase A deficiency
4905 Pseudocholinesterase deficiency
4906 Pseudodiastrophic dysplasia
4907 Pseudohermaphrodism anorectal anomalies
4908 Pseudohyperkalemia Cardiff
4909 Pseudohypoaldosteronism type 2
4910 Pseudohypoparathyroidism
4911 Pseudohypoparathyroidism type 1A
4912 Pseudohypoparathyroidism type 1B
4913 Pseudohypoparathyroidism type 1C
4914 Pseudohypoparathyroidism type 2
4915 Pseudoinflammatory fundus dystrophy
4916 Pseudomarfanism
4917 Pseudomonas stutzeri infections
4918 Pseudomongolism
4919 Pseudomyotonia
4920 Pseudomyxoma peritonei
4921 Pseudoneonatal adrenoleukodystrophy
4922 Pseudopapilledema blepharophimosis hand anomalies

4923 Pseudopelade of Brocq
4924 Pseudopolycythaemia
4925 Pseudoprogeria syndrome
4926 Pseudopseudohypoparathyroidism
4927 Pseudotrisomy 13 syndrome
4928 Pseudotumor cerebri
4929 Pseudo-Turner syndrome
4930 Pseudo-Von Willebrand disease
4931 Pseudoxanthoma elasticum
4932 Pseudoxanthoma elasticum, dominant form
4933 Pseudoxanthoma elasticum, forme fruste
4934 Pseudoxanthoma elasticum, recessive form
4935 Psittacosis
4936 Psoriatic juvenile idiopathic arthritis
4937 Pterigium Colli
4938 Pterygia, mental retardation and distinctive craniofacial features
4939 Pterygium colli mental retardation digital anomalies
4940 Pterygium of the conjunctiva and cornea
4941 Ptosis coloboma mental retardation
4942 Ptosis strabismus diastasis
4943 Ptosis strabismus ectopic pupils
4944 Pudendal Neuralgia
4945 Pulmonary alveolar proteinosis acquired
4946 Pulmonary arterio-veinous fistula
4947 Pulmonary arteriovenous malformation
4948 Pulmonary artery agenesis
4949 Pulmonary artery coming from the aorta
4950 Pulmonary artery familial dilatation
4951 Pulmonary artery, isolated unilateral absence of (Isolated UAPA)
4952 Pulmonary artery, unilateral absence of (UAPA)
4953 Pulmonary atresia with intact ventricular septum
4954 Pulmonary atresia with ventricular septal defect
4955 Pulmonary branches stenosis
4956 Pulmonary edema of mountaineers
4957 Pulmonary hyalinizing granuloma
4958 Pulmonary hypoplasia familial primary
4959 Pulmonary sequestration
4960 Pulmonary supravalvular stenosis
4961 Pulmonary surfactant protein B, deficiency of
4962 Pulmonary valve stenosis

4963 Pulmonary valves agenesis
4964 Pulmonary vein stenosis
4965 Pulmonary venoocclusive disease
4966 Pulmonary venous return anomaly
4967 Pulmonic stenosis
4968 Punctate acrokeratoderma freckle like pigmentation
4969 Punctate inner choroidopathy
4970 Punctate porokeratosis
4971 Pure autonomic failure
4972 Pure red cell aplasia
4973 Purine nucleoside phosphorylase deficiency
4974 Pycnodysostosis
4975 Pyknoachondrogenesis
4976 Pyle disease
4977 Pyoderma gangrenosum
4978 Pyogenic arthritis, pyoderma gangrenosum and acne
4979 Pyomyositis
4980 Pyridoxal 5'-phosphate-dependent epilepsy
4981 Pyridoxine deficiency
4982 Pyridoxine-dependent epilepsy
4983 Pyropoikilocytosis hereditary
4984 Pyruvate carboxylase deficiency
4985 Pyruvate decarboxylase deficiency
4986 Pyruvate dehydrogenase deficiency
4987 Pyruvate dehydrogenase phosphatase deficiency
4988 Pyruvate kinase deficiency
4989 Pyruvate kinase deficiency, liver type
4990 Pyruvate kinase deficiency, muscle type
4991 Q fever
4992 Qazi Markouizos syndrome
4993 Quebec platelet disorder
4994 Quinquaud's decalvans folliculitis
4995 Rabies
4996 Rabson-Mendenhall syndrome
4997 Radial defect Robin sequence
4998 Radial hypoplasia, triphalangeal thumbs and hypospadias
4999 Radial ray agenesis
5000 Radial ray hypoplasia choanal atresia
5001 Radiation induced angiosarcoma of the breast
5002 Radiation induced brachial plexopathy

5003 Radiation induced cancer
5004 Radiation induced meningioma
5005 Radio renal syndrome
5006 Radio-digito-facial dysplasia
5007 Radioulnar synostosis retinal pigment abnormalities
5008 Radio-ulnar synostosis type 1
5009 Radio-ulnar synostosis type 2
5010 Radioulnar synostosis with microcephaly, short stature, scoliosis,
and mental retardation
5011 Radius absent anogenital anomalies
5012 Raine syndrome
5013 Ramer Ladda syndrome
5014 Ramon Syndrome
5015 Ramos Arroyo Clark syndrome
5016 Rapadilino syndrome
5017 Rapp-Hodgkin syndrome
5018 Rasmussen encephalitis
5019 Rasmussen Johnsen Thomsen syndrome
5020 Rat bite fever
5021 Reactive angioendotheliomatosis
5022 Reactive arthritis
5023 Reardon Wilson Cavanagh syndrome
5024 Recessive developmental delay, small stature, microcephaly and
brain calcifications
5025 Recombinant chromosome 8 syndrome
5026 Rectal cancer, childhood
5027 Rectal neoplasm
5028 Rectosigmoid neoplasm
5029 Recurrent peripheral facial palsy
5030 Recurrent respiratory papillomatosis
5031 Red cell phospholipid defect with hemolysis
5032 Red skin pigment anomaly of New Guinea
5033 Reductional transverse limb defects
5034 Reed syndrome
5035 Reese retinal dysplasia
5036 Refsum disease
5037 Refsum disease with increased pipecolic acidemia
5038 Refsum disease, infantile form
5039 Reginato Shiapachasse syndrome
5040 Relapsing polychondritis

5041 Renal adysplasia dominant type
5042 Renal agenesis meningomyelocele mullerian defect
5043 Renal caliceal diverticuli deafness
5044 Renal cancer
5045 Renal carcinoma, familial
5046 Renal cell carcinoma 4
5047 Renal coloboma syndrome
5048 Renal dysplasia diffuse autosomal recessive
5049 Renal dysplasia diffuse cystic
5050 Renal dysplasia megalocystis sirenomelia
5051 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia
and skeletal dysplasia
5052 Renal dysplasia-limb defects syndrome
5053 Renal genital middle ear anomalies
5054 Renal glycosuria
5055 Renal hamartomas nephroblastomatosis and fetal gigantism
5056 Renal hypouricemia
5057 Renal oncocytoma
5058 Renal pelvis and ureter, transitional cell cancer
5059 Renal rickets
5060 Renal tubular acidosis
5061 Renal tubular acidosis progressive nerve deafness
5062 Renal tubular acidosis, distal
5063 Renal tubular acidosis, distal, autosomal dominant
5064 Renal tubular acidosis, distal, autosomal recessive
5065 Renal tubular acidosis, distal, type 3
5066 Renal tubular acidosis, distal, type 4
5067 Renal tubular dysgenesis
5068 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to
duplication of mitochondrial DNA
5069 Renier Gabreels Jasper syndrome
5070 Renoanogenital syndrome
5071 Renoprival hypertension
5072 Renpenning syndrome 1
5073 Resistance to LH (luteinizing hormone)
5074 Respiratory distress syndrome, infant
5075 Restless legs syndrome, susceptibility to, 1
5076 Restless legs syndrome, susceptibility to, 2
5077 Restless legs syndrome, susceptibility to, 3
5078 Restless legs syndrome, susceptibility to, 4

5079 Restless legs syndrome, susceptibility to, 5
5080 Restless legs syndrome, susceptibility to, 6
5081 Reticular dysgenesis
5082 Reticuloendotheliosis
5083 Retinal cone dystrophy 1
5084 Retinal cone dystrophy 2
5085 Retinal cone dystrophy 3A
5086 Retinal cone dystrophy 3B
5087 Retinal cone dystrophy 4
5088 Retinal degeneration with nanophthalmos, cystic macular
degeneration, and angle closure glaucoma
5089 Retinal dysplasia X-linked
5090 Retinal telangiectasia hypogammaglobulinemia
5091 Retinis pigmentosa deafness hypogenitalism
5092 Retinitis pigmentosa
5093 Retinitis pigmentosa 1
5094 Retinitis Pigmentosa 11
5095 Retinitis pigmentosa 12
5096 Retinitis Pigmentosa 13
5097 Retinitis Pigmentosa 14
5098 Retinitis Pigmentosa 15
5099 Retinitis Pigmentosa 17
5100 Retinitis Pigmentosa 18
5101 Retinitis Pigmentosa 19
5102 Retinitis pigmentosa 2, x linked
5103 Retinitis Pigmentosa 20
5104 Retinitis Pigmentosa 22
5105 Retinitis Pigmentosa 23
5106 Retinitis Pigmentosa 24
5107 Retinitis Pigmentosa 25
5108 Retinitis Pigmentosa 26
5109 Retinitis Pigmentosa 28
5110 Retinitis pigmentosa 29
5111 Retinitis pigmentosa 3
5112 Retinitis Pigmentosa 30
5113 Retinitis Pigmentosa 31
5114 Retinitis Pigmentosa 32
5115 Retinitis Pigmentosa 33
5116 Retinitis Pigmentosa 34
5117 Retinitis Pigmentosa 35

5118 Retinitis Pigmentosa 36
5119 Retinitis Pigmentosa 4
5120 Retinitis Pigmentosa 41
5121 Retinitis Pigmentosa 6
5122 Retinitis Pigmentosa 7
5123 Retinitis Pigmentosa 9
5124 Retinitis pigmentosa, deafness, mental retardation, and
hypogonadism
5125 Retinitis pigmentosa-deafness syndrome
5126 Retinoblastoma
5127 Retinochoroidal coloboma
5128 Retinohepatoendocrinologic syndrome
5129 Retinopathy anemia CNS anomalies
5130 Retinopathy aplastic anemia neurological abnormalities
5131 Retinopathy of prematurity
5132 Retinopathy pigmentary mental retardation
5133 Retinopathy, arteriosclerotic
5134 Retinoschisis autosomal dominant
5135 Retinoschisis of Fovea
5136 Retroperitoneal fibrosis
5137 Retroperitoneal liposarcoma
5138 Rett syndrome
5139 Revesz syndrome
5140 Reye syndrome
5141 Reynolds Neri Hermann syndrome
5142 Reynolds syndrome
5143 Rhabditida Infections
5144 Rhabdoid tumor
5145 Rhabdomyomatous mesenchymal hamartoma
5146 Rhabdomyosarcoma alveolar
5147 Rhabdomyosarcoma embryonal
5148 Rheumatic Fever
5149 Rheumatoid nodulosis
5150 Rheumatoid vasculitis
5151 Rhizomelic chondrodysplasia punctata type 1
5152 Rhizomelic chondrodysplasia punctata type 2
5153 Rhizomelic chondrodysplasia punctata, type 3
5154 Rhizomelic dysplasia Patterson Lowry type
5155 Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
5156 Rhizomelic pseudopolyarthritis

5157 Rhizomelic syndrome
5158 RHYNS syndrome
5159 Ribbing disease
5160 Richards-Rundle syndrome
5161 Richieri Costa Da Silva syndrome
5162 Richieri Costa Guion Almeida syndrome
5163 Richieri Costa Orquizas syndrome
5164 Richieri Costa Pereira syndrome
5165 Richieri-Costa Colletto Otto syndrome
5166 Richieri-Costa Guion-Almeida Cohen syndrome
5167 Richter syndrome
5168 Rickets
5169 Right atrium familial dilatation
5170 Right ventricle hypoplasia
5171 Rigid spine syndrome
5172 Ring chromosome 1
5173 Ring chromosome 10
5174 Ring chromosome 11
5175 Ring chromosome 12
5176 Ring chromosome 13
5177 Ring chromosome 14
5178 Ring chromosome 15
5179 Ring chromosome 16
5180 Ring chromosome 17
5181 Ring chromosome 18
5182 Ring chromosome 19
5183 Ring chromosome 2
5184 Ring chromosome 20
5185 Ring chromosome 21
5186 Ring chromosome 22
5187 Ring chromosome 3
5188 Ring chromosome 4
5189 Ring chromosome 5
5190 Ring chromosome 6
5191 Ring chromosome 7
5192 Ring chromosome 8
5193 Ring chromosome 9
5194 Ring dermoid of cornea
5195 Ringed hair disease
5196 Rippling muscle disease

5197 Rippling muscle disease, 1
5198 Roberts syndrome
5199 Robin sequence and oligodactyly
5200 Robinow Sorauf syndrome
5201 Robinow syndrome
5202 Robinson Miller Bensimon syndrome
5203 Roch-Leri mesosomatous lipomatosis
5204 Rocky mountain spotted fever
5205 Rod myopathy
5206 Rodini Richieri Costa syndrome
5207 Rodrigues blindness
5208 ROHHAD
5209 Roifman syndrome
5210 Rokitansky sequence
5211 Rokitansky-Aschoff sinuses of the gallbladder
5212 Rombo syndrome
5213 Rommen Mueller Sybert syndrome
5214 Rosai-Dorfman disease
5215 Rothmund Thomson syndrome
5216 Rotor syndrome
5217 Roussy Levy syndrome
5218 Rowley-Rosenberg syndrome
5219 Roy Maroteaux Kremp syndrome
5220 Rozin Hertz Goodman syndrome
5221 Rubella
5222 Rubinstein Taybi like syndrome
5223 Rubinstein-Taybi syndrome
5224 Rud Syndrome
5225 Rudd Klimek syndrome
5226 Rufous oculocutaneous albinism
5227 Rumination disorder
5228 Russell-Silver syndrome
5229 Rutherfurd syndrome
5230 Ruvalcaba Churesigaew Myhre syndrome
5231 Ruvalcaba syndrome
5232 Ruzicka Goerz Anton syndrome
5233 Saal Bulas syndrome
5234 Sabinas brittle hair syndrome
5235 Saccharopinuria
5236 Sackey Sakati Aur syndrome

5237 Sacral defect with anterior meningocele
5238 Sacral hemangiomas multiple congenital abnormalities
5239 Sacral meningocele conotruncal heart defects
5240 Sacral plexopathy
5241 Sacrococcygeal Teratoma
5242 Saethre-Chotzen syndrome
5243 Saito Kuba Tsuruta syndrome
5244 Sakati syndrome
5245 Sakoda complex
5246 Salcedo syndrome
5247 Salivary gland cancer, adult
5248 Salivary gland cancer, childhood
5249 Salla disease
5250 Sallis Beighton syndrome
5251 Sammartino Decreccio syndrome
5252 Samson Gardner syndrome
5253 Samson Viljoen syndrome
5254 Sanderson Fraser syndrome
5255 Sandhaus Ben-Ami syndrome
5256 Sandhoff disease
5257 Sandifer syndrome
5258 Santos Mateus Leal syndrome
5259 SAPHO syndrome
5260 Sarcoidosis
5261 Sarcoma botryoides
5262 Sarcosinemia
5263 SARS
5264 Satoyoshi syndrome
5265 Saul Wilkes Stevenson syndrome
5266 Say Barber Miller syndrome
5267 Say Carpenter syndrome
5268 Say Meyer syndrome
5269 Say syndrome
5270 Say-Field-Coldwell syndrome
5271 Scalp defects postaxial polydactyly
5272 Scalp ear nipple syndrome
5273 Scaphotrapeziotrapezoid arthrodesis
5274 Scapuloperoneal syndrome, neurogenic, Kaeser type
5275 SCARF syndrome
5276 Schaap Taylor Baraitser syndrome

5277 Schaefer Stein Oshman syndrome
5278 Scheuermann disease
5279 Schimke immunoosseous dysplasia
5280 Schimke X-linked mental retardation syndrome
5281 Schindler disease, type 1
5282 Schinzel Giedion syndrome
5283 Schisis association
5284 Schistosomiasis
5285 Schizencephaly
5286 Schizophrenia mental retardation deafness retinitis
5287 Schizotaxia
5288 Schlegelberger Grote syndrome
5289 Schmitt Gillenwater Kelly syndrome
5290 Schneckenbecken dysplasia
5291 Scholte syndrome
5292 Schrander-Stumpel Theunissen Hulsmans syndrome
5293 Schroer Hammer Mauldin syndrome
5294 Schwannoma
5295 Schwannomatosis
5296 Schwartz Cohen-Addad Lambert syndrome
5297 Schwartz Jampel syndrome type 1
5298 Scleredema
5299 Scleroatonic muscular dystrophy
5300 Sclerocornea, Syndactyly, ambiguous genitalia
5301 Scleromyxedema
5302 Sclerosing bone dysplasia mental retardation
5303 Sclerosing mesenteritis
5304 Sclerosteosis
5305 Sclerotylosis
5306 Scoliosis with unilateral unsegmented bar
5307 SCOT deficiency
5308 Scott Bryant Graham syndrome
5309 Scott syndrome
5310 Scurvy
5311 Sea-Blue histiocytosis
5312 Seaver Cassidy syndrome
5313 Sebaceous gland hyperplasia, familial presenile
5314 Sebocystomatosis
5315 Secernentea Infections
5316 Seckel like syndrome Majoor-Krakauer type

5317 Seckel syndrome
5318 Secretory breast carcinoma
5319 Segawa syndrome, autosomal recessive
5320 Segmentation syndrome 1
5321 Seizures benign familial neonatal recessive form
5322 Seizures mental retardation hair dysplasia
5323 Selective IgA deficiency
5324 Selenium poisoning
5325 Selig Benacerraf Greene syndrome
5326 Semantic dementia
5327 Seminoma
5328 Semmekrot Haraldsson Weemaes syndrome
5329 Sener syndrome
5330 Senior Loken Syndrome
5331 Sennetsu Fever
5332 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
5333 Sensory neuropathy type 1
5334 Senter syndrome
5335 Seow Najjar syndrome
5336 Sepiapterin reductase deficiency
5337 Septo-optic dysplasia
5338 Sequeiros Sack syndrome
5339 Seres-Santamaria Arimany Muniz syndrome
5340 Serkal syndrome
5341 Serpentine fibula polycystic kidney syndrome
5342 Serpiginous choroiditis
5343 Sertoli cell-only syndrome
5344 Sertoli-leydig cell tumors
5345 SeSAME syndrome
5346 Severe achondroplasia with developmental delay and acanthosis
nigricans
5347 Severe combined immunodeficiency
5348 Severe combined immunodeficiency with sensitivity to ionizing
radiation
5349 Severe combined immunodeficiency, atypical
5350 Severe congenital neutropenia autosomal dominant
5351 Severe congenital neutropenia autosomal recessive 3
5352 Severe congenital neutropenia X-linked
5353 Severe generalized recessive dystrophic epidermolysis bullosa

5354 Severe immunodeficiency, autosomal recessive, T-cell negative,
B-cell negative, NK cell-positive
5355 Severe infantile axonal neuropathy
5356 Severe mental retardation and absent nails of hallux and pollex
5357 Sezary syndrome
5358 Shapiro syndrome
5359 Sharp syndrome
5360 Shaver's disease
5361 Sheehan syndrome
5362 Shigellosis
5363 Shith Filkins syndrome
5364 Short bowel syndrome
5365 Short broad great toe macrocranium
5366 Short chain acyl CoA dehydrogenase deficiency
5367 Short limb dwarf edema iris coloboma
5368 Short limb dwarf lethal Colavita Kozlowski type
5369 Short limbs abnormal face congenital heart disease
5370 Short limbs subluxed knees cleft palate
5371 Short rib-polydactyly syndrome type 3
5372 Short rib-polydactyly syndrome type 1
5373 Short rib-polydactyly syndrome type 2
5374 Short rib-polydactyly syndrome type 4
5375 Short ribs craniosynostosis polysyndactyly
5376 Short stature abnormal skin pigmentation mental retardation
5377 Short stature contractures hypotonia
5378 Short stature cranial hyperostosis hepatomegaly
5379 Short stature deafness neutrophil dysfunction
5380 Short stature dysmorphic face pelvic scapula dysplasia
5381 Short stature mental retardation eye anomalies
5382 Short stature microcephaly seizures deafness
5383 Short stature monodactylous ectrodactyly cleft palate
5384 Short stature prognathism short femoral necks
5385 Short stature Robin sequence cleft mandible hand anomalies
clubfoot
5386 Short stature syndrome, Brussels type
5387 Short stature talipes natal teeth
5388 Short stature valvular heart disease
5389 Short stature with optic atrophy and Pelger-Huët anomaly
syndrome
5390 Short stature wormian bones dextrocardia

5391 Short stature, cranial hyperostosis, hepatomegaly and diabetes
5392 SHORT syndrome
5393 Shoulder and thorax deformity congenital heart disease
5394 Shoulder girdle defect mental retardation familial
5395 Shprintzen omphalocele syndrome
5396 Shprintzen omphalocele syndrome
5397 Shprintzen-Goldberg craniosynostosis syndrome
5398 Shwachman-Diamond syndrome
5399 Shwartzman phenomenon
5400 Sialadenitis
5401 Sialidosis type I
5402 Sialidosis, type II
5403 Sialuria, French type
5404 Sickle cell anemia
5405 Sickle delta beta thalassemia
5406 Siderius X-linked mental retardation syndrome
5407 Sideroblastic anemia acquired
5408 Sideroblastic anemia and mitochondrial myopathy
5409 Sideroblastic anemia pyridoxine-refractory autosomal recessive
5410 Sideroblastic anemia pyridoxine-responsive autosomal recessive
5411 Sideroblastic anemia X-linked
5412 Siderosis
5413 Siegler Brewer Carey syndrome
5414 Silengo Lerone Pelizza syndrome
5415 Silicosiderosis
5416 Silicosis
5417 Sillence syndrome
5418 Silvery hair syndrome
5419 Simian B virus infection
5420 Simosa cranio facial syndrome
5421 Simpson-Golabi-Behmel syndrome
5422 Sine scleroderma
5423 Singh Chhaparwal Dhanda syndrome
5424 Single upper central incisor
5425 Single ventricular heart
5426 Singleton Merten syndrome
5427 Sinonasal undifferentiated carcinoma
5428 Sinus cancer
5429 Sinus node disease and myopia
5430 Sirenomelia

5431 Sitosterolemia
5432 Situs inversus
5433 Situs inversus totalis with cystic dysplasia of kidneys and
pancreas
5434 Sixth nerve palsy
5435 Sjogren-Larsson syndrome
5436 Sjogren-Larsson-like syndrome
5437 Sjogren's syndrome, juvenile, secondary to autoimmune disease
5438 Skeletal dysplasia orofacial anomalies
5439 Skeletal dysplasia, San Diego type
5440 Skeleto cardiac syndrome with thrombocytopenia
5441 Skin cancer, non melanoma, childhood
5442 Skin fragility woolly hair syndrome
5443 Slavotinek Pike Mills Hurst syndrome
5444 Slow-channel congenital myasthenic syndrome
5445 Slti Salem syndrome
5446 Small cell lung cancer, childhood
5447 Small cell lung cancer, adult
5448 Small intestine cancer
5449 Small intestine cancer, childhood
5450 Small non-cleaved cell lymphoma
5451 Small patella syndrome
5452 Smallpox
5453 Smith McCort dysplasia
5454 Smith-Lemli-Opitz syndrome type 1
5455 Smith-Lemli-Opitz syndrome type 2
5456 Smith-Magenis syndrome
5457 Sneddon syndrome
5458 Snowflake vitreoretinal degeneration
5459 Snyder-Robinson syndrome
5460 Soft tissue sarcoma
5461 Soft tissue sarcoma childhood
5462 Sohval Soffer syndrome
5463 Somatostatinoma
5464 Sonoda syndrome
5465 Sosby syndrome
5466 Sotos syndrome
5467 Sparse hair ptosis mental retardation
5468 Spasmodic dysphonia
5469 Spastic angina with healthy coronary artery

5470 Spastic ataxia Charlevoix-Saguenay type
5471 Spastic diplegia infantile type
5472 Spastic paraparesis
5473 Spastic paraplegia 1
5474 Spastic paraplegia 10
5475 Spastic paraplegia 11
5476 Spastic paraplegia 12
5477 Spastic paraplegia 13
5478 Spastic paraplegia 14
5479 Spastic paraplegia 15
5480 Spastic paraplegia 16
5481 Spastic paraplegia 17
5482 Spastic paraplegia 18
5483 Spastic paraplegia 19
5484 Spastic paraplegia 2
5485 Spastic paraplegia 20
5486 Spastic paraplegia 23
5487 Spastic paraplegia 24
5488 Spastic paraplegia 25
5489 Spastic paraplegia 26
5490 Spastic paraplegia 29
5491 Spastic paraplegia 3
5492 Spastic paraplegia 31
5493 Spastic paraplegia 39
5494 Spastic paraplegia 4
5495 Spastic paraplegia 51
5496 Spastic paraplegia 5A
5497 Spastic paraplegia 5B
5498 Spastic paraplegia 6
5499 Spastic paraplegia 7
5500 Spastic paraplegia 8
5501 Spastic paraplegia 9
5502 Spastic paraplegia and distal muscle wasting caused by
neuropathy target esterase gene mutation
5503 Spastic paraplegia epilepsy mental retardation
5504 Spastic paraplegia facial cutaneous lesions
5505 Spastic paraplegia neuropathy poikiloderma
5506 Spastic paraplegia with precocious puberty
5507 Spastic paresis glaucoma mental retardation
5508 Spastic quadriplegia retinitis pigmentosa mental retardation

5509 Spasticity mental retardation
5510 Spasticity multiple exostoses
5511 Spermatogenesis arrest
5512 Spheroid body myopathy
5513 Sphingolipidosis
5514 Spielmeyer-Vogt disease
5515 Spina bifida
5516 Spina bifida hypospadias
5517 Spinal atrophy ophthalmoplegia pyramidal syndrome
5518 Spinal bulbar motor neuropathy
5519 Spinal cord neoplasm
5520 Spinal dysostosis type Anhalt
5521 Spinal intradural arachnoid cysts
5522 Spinal muscular atrophy
5523 Spinal muscular atrophy 1
5524 Spinal muscular atrophy Ryukyuan type
5525 Spinal muscular atrophy type 1 with congenital bone fractures
5526 Spinal muscular atrophy type 2
5527 Spinal muscular atrophy type 3
5528 Spinal muscular atrophy type 4
5529 Spinal muscular atrophy with respiratory distress 1
5530 Spinal shock
5531 Spine rigid cardiomyopathy
5532 Spinocerebellar ataxia
5533 Spinocerebellar ataxia 1
5534 Spinocerebellar ataxia 10
5535 Spinocerebellar ataxia 11
5536 Spinocerebellar ataxia 12
5537 Spinocerebellar ataxia 13
5538 Spinocerebellar ataxia 14
5539 Spinocerebellar ataxia 15
5540 Spinocerebellar ataxia 17
5541 Spinocerebellar ataxia 18
5542 Spinocerebellar ataxia 19
5543 Spinocerebellar ataxia 2
5544 Spinocerebellar ataxia 20
5545 Spinocerebellar ataxia 21
5546 Spinocerebellar ataxia 23
5547 Spinocerebellar ataxia 25
5548 Spinocerebellar ataxia 26

5549 Spinocerebellar ataxia 27
5550 Spinocerebellar ataxia 28
5551 Spinocerebellar ataxia 29
5552 Spinocerebellar ataxia 3
5553 Spinocerebellar ataxia 30
5554 Spinocerebellar ataxia 31
5555 Spinocerebellar ataxia 34
5556 Spinocerebellar ataxia 4
5557 Spinocerebellar ataxia 5
5558 Spinocerebellar ataxia 7
5559 Spinocerebellar ataxia 8
5560 Spinocerebellar ataxia 9
5561 Spinocerebellar ataxia autosomal recessive 1
5562 Spinocerebellar ataxia autosomal recessive 3
5563 Spinocerebellar ataxia autosomal recessive 4
5564 Spinocerebellar ataxia autosomal recessive 5
5565 Spinocerebellar ataxia autosomal recessive 6
5566 Spinocerebellar ataxia autosomal recessive with axonal
neuropathy
5567 Spinocerebellar ataxia type 6
5568 Spinocerebellar ataxia with dysmorphism
5569 Spinocerebellar ataxia X-linked type 2
5570 Spinocerebellar ataxia X-linked type 3
5571 Spinocerebellar ataxia X-linked type 4
5572 Spinocerebellar degeneration and corneal dystrophy
5573 Spinocerebellar degenerescence book type
5574 Spirochetes disease
5575 Spirurida Infections
5576 Spitz nevus
5577 Spleen neoplasm
5578 Splenic infarcts
5579 Splenogonadal fusion limb defects micrognatia
5580 Splenomegaly
5581 Split hand foot malformation
5582 Split hand foot malformation 1
5583 Split hand split foot malformation autosomal recessive
5584 Split hand split foot nystagmus
5585 Split hand urinary anomalies spina bifida
5586 Split hand/foot malformation X-linked
5587 Spondylarthropathy

5588 Spondylocamptodactyly
5589 Spondylocarpotarsal synostosis syndrome
5590 Spondylocostal dysostosis 1
5591 Spondylocostal dysostosis 2
5592 Spondylocostal dysostosis 3
5593 Spondylocostal dysostosis 4
5594 Spondyloenchondrodysplasia
5595 Spondyloepimetaphyseal dysplasia Genevieve type
5596 Spondyloepimetaphyseal dysplasia joint laxity
5597 Spondyloepimetaphyseal dysplasia Matrilin-3 related
5598 Spondyloepimetaphyseal dysplasia micromelic
5599 Spondyloepimetaphyseal dysplasia Missouri type
5600 Spondyloepimetaphyseal dysplasia Shohat type
5601 Spondyloepimetaphyseal dysplasia Sponastrime type
5602 Spondyloepimetaphyseal dysplasia Strudwick type
5603 Spondyloepimetaphyseal dysplasia with hypotrichosis
5604 Spondyloepimetaphyseal dysplasia with multiple dislocations
5605 Spondyloepimetaphyseal dysplasia X-linked
5606 Spondyloepimetaphyseal dysplasia x-linked with mental
deterioration
5607 Spondyloepimetaphyseal dysplasia, Aggrecan type
5608 Spondyloepiphyseal dysplasia
5609 Spondyloepiphyseal dysplasia congenita
5610 Spondyloepiphyseal dysplasia Maroteaux type
5611 Spondyloepiphyseal dysplasia Omani type
5612 Spondyloepiphyseal dysplasia tarda autosomal dominant
5613 Spondyloepiphyseal dysplasia tarda Toledo type
5614 Spondyloepiphyseal dysplasia tarda X-linked
5615 Spondyloepiphyseal dysplasia-brachydactyly and distinctive
speech
5616 Spondylohypoplasia, arthrogryposis and popliteal pterygium
5617 Spondylometaepiphyseal dysplasia short limb-hand type
5618 Spondylometaphyseal dysplasia Algerian type
5619 Spondylometaphyseal dysplasia corner fracture type
5620 Spondylometaphyseal dysplasia East-African type
5621 Spondylometaphyseal dysplasia Kozlowski type
5622 Spondylometaphyseal dysplasia Sedaghatian type
5623 Spondylometaphyseal dysplasia type A4
5624 Spondylometaphyseal dysplasia with bowed forearms and facial
dysmorphism

5625 Spondylometaphyseal dysplasia with cone-rod dystrophy
5626 Spondylometaphyseal dysplasia with dentinogenesis imperfecta
5627 Spondylometaphyseal dysplasia X-linked
5628 Spondyloperipheral dysplasia
5629 Spondylospinal thoracic dysostosis
5630 Spondylothoracic dysostosis
5631 Spontaneous coronary artery dissection
5632 Spontaneous pneumothorax familial type
5633 Sporotrichosis
5634 Spotted fever
5635 Spranger Schinzel Myers syndrome
5636 Sprengel deformity
5637 Squamous cell carcinoma of the head and neck
5638 St Anthony's fire
5639 Stachybotrys chartarum
5640 Stalker Chitayat syndrome
5641 Stampe sorensen syndrome
5642 Staphylococcal food poisoning
5643 Staphylococcal toxic shock syndrome
5644 STAR syndrome
5645 Stargardt disease
5646 Stargardt macular degeneration absent or hypoplastic corpus
callosum mental retardation and dysmorphic features
5647 Status epilepticus
5648 Steatocystoma multiplex
5649 Steatocystoma multiplex with natal teeth
5650 Steinfeld syndrome
5651 Stenotrophomonas maltophilia
5652 Sterility due to immotile flagella
5653 Sternal cleft
5654 Sternal cyst vascular anomalies
5655 Sternal malformation vascular dysplasia associatio
5656 Steroid dehydrogenase deficiency dental anomalies
5657 Stevens-Johnson syndrome
5658 Stewart Treves syndrome
5659 Stickler syndrome
5660 Stickler syndrome type 1
5661 Stickler syndrome, type 2
5662 Stickler syndrome, type 3
5663 Stiff person syndrome

5664 Stiff skin syndrome
5665 Still's disease adult onset
5666 Stocco dos Santos syndrome
5667 Stoelinga de Koomen Davis syndrome
5668 Stoll Alembik Finck syndrome
5669 Stomach cancer, childhood
5670 Stomach cancer, familial
5671 Stomach carcinoma
5672 Stomatocytosis I
5673 Stomatocytosis II
5674 Storm syndrome
5675 Stratton-Garcia-Young syndrome
5676 Streptococcal Group A invasive disease
5677 Streptococcal Group B invasive disease
5678 Stress cardiomyopathy
5679 Striatonigral degeneration infantile
5680 Strongyloidiasis
5681 Sturge-Weber syndrome
5682 Stuve-Wiedemann syndrome
5683 Subacute sclerosing panencephalitis
5684 Subaortic stenosis short stature syndrome
5685 Subcortical band heterotopia
5686 Subcutaneous panniculitis-like T-cell lymphoma
5687 Subependymal giant cell astrocytoma
5688 Subependymal nodular heterotopia
5689 Subependymoma
5690 Subpulmonary stenosis
5691 Subvalvular aortic stenosis
5692 Succinic acidemia
5693 Succinic acidemia lactic acidosis congenital
5694 Succinic semialdehyde dehydrogenase deficiency
5695 Sudden Arrhythmia Death Syndrome
5696 Sudden infant death syndrome
5697 Sugarman brachydactyly
5698 Sulfite oxidase deficiency
5699 Summitt syndrome
5700 SUNCT headache
5701 Superficial siderosis of the central nervous system
5702 Superficial spreading melanoma
5703 Superior canal dehiscence syndrome

5704 Superior limbic keratoconjunctivitis
5705 Superior mesenteric artery syndrome
5706 Superior vena cava syndrome
5707 Supernumerary nipples
5708 Supraglottic laryngeal cancer
5709 Supranuclear ocular palsy
5710 Supratentorial primitive neuroectodermal tumor
5711 Supratentorial primitive neuroectodermal tumors, childhood
5712 Supraumbilical midabdominal raphe and facial cavernous
hemangiomas
5713 Supravalvular aortic stenosis
5714 Susac syndrome
5715 Sutton disease 2
5716 Swyer syndrome
5717 Swyer-James syndrome
5718 Sydenham's chorea
5719 Symmastia
5720 Symmetrical thalamic calcifications
5721 Symphalangism brachydactyly craniosynostosis
5722 Symphalangism distal
5723 Symphalangism familial proximal
5724 Symphalangism short stature accessory testis
5725 Symphalangism with multiple anomalies of hands and feet
5726 Symphalangism, distal, with microdontia, dental pulp stones, and
narrowed zygomatic arch
5727 Syncamptodactyly scoliosis
5728 Syndactyly cataract mental retardation
5729 Syndactyly Cenani Lenz type
5730 Syndactyly ectodermal dysplasia cleft lip palate hand foot
5731 Syndactyly type 1
5732 Syndactyly type 1 with cataracts and mental retardation
5733 Syndactyly type 2
5734 Syndactyly type 3
5735 Syndactyly type 4
5736 Syndactyly type 5
5737 Syndactyly type 9
5738 Syndactyly-polydactyly-earlobe syndrome
5739 Syndesmodysplasic dwarfism
5740 Syngnathia cleft palate
5741 Syngnathia multiple anomalies

5742 Synostoses, tarsal, carpal, and digital
5743 Synostosis of talus and calcaneus short stature
5744 Synovial cancer
5745 Synovial Chondromatosis
5746 Synovial chondromatosis, familial with dwarfism
5747 Synovial sarcoma
5748 Synovitis
5749 Syphilitic aseptic meningitis
5750 Syphilitic myelopathy
5751 Syringobulbia
5752 Syringocystadenoma papilliferum
5753 Syringomas natal teeth oligodontia
5754 Syringomelia hyperkeratosis
5755 Syringomyelia
5756 Systemic candidiasis
5757 Systemic capillary leak syndrome
5758 Systemic mastocytosis
5759 Systemic necrotizing angitis
5760 Systemic onset juvenile idiopathic arthritis
5761 Systemic scleroderma
5762 T cell immunodeficiency primary
5763 Tabatznik syndrome
5764 Tachycardia hypertension microphthalmia and hyperglycinuria
5765 Takayasu arteritis
5766 Talipes equinovarus
5767 Talonavicular coalition
5768 Talo-patello-scaphoid osteolysis, synovitis, and short fourth
metacarpals
5769 Tang Hsi Ryu syndrome
5770 Tangier disease
5771 TAR syndrome
5772 Tarlov cysts
5773 TARP syndrome
5774 Tarsal carpal coalition syndrome
5775 Tarsal tunnel syndrome
5776 TAU syndrome
5777 Taurodontia absent teeth sparse hair
5778 Taurodontism
5779 Taurodontism, microdontia, and dens invaginatus
5780 Tay Sachs disease

5781 T-cell immunodeficiency, congenital alopecia and nail dystrophy
5782 T-cell lymphoma 1A
5783 Teebi Kaurah syndrome
5784 Teebi Naguib Al Awadi syndrome
5785 Teebi Shaltout syndrome
5786 Teeth noneruption of with maxillary hypoplasia and genu valgum
5787 Tel Hashomer camptodactyly syndrome
5788 Telencephalic leukoencephalopathy
5789 Telfer Sugar Jaeger syndrome
5790 TEMPI syndrome
5791 Temporal epilepsy, familial
5792 Temporomandibular ankylosis
5793 Temtamy preaxial brachydactyly syndrome
5794 Temtamy syndrome
5795 Tendons, extensor, of fingers, anomalous insertion of
5796 Teratoma with malignant transformation
5797 Testicular cancer
5798 Testicular cancer, childhood
5799 Testotoxicosis
5800 Tetanus
5801 Tetraamelia multiple malformations X-linked
5802 Tetra-amelia syndrome
5803 Tetraamelia with ectodermal dysplasia and lacrimal duct
abnormalities
5804 Tetraamelia with pulmonary hypoplasia
5805 Tetrahydrobiopterin deficiency
5806 Tetralogy of Fallot
5807 Tetralogy of fallot and glaucoma
5808 Tetramelic monodactyly
5809 Tetraploidy
5810 Tetrasomy 9p
5811 Tetrasomy X
5812 Thai symphalangism syndrome
5813 Thakker-Donnai syndrome
5814 Thalamic degeneration symmetrical infantile
5815 Thalamic degeneration, symmetric infantile
5816 Thalassemia
5817 Thanatophoric dysplasia
5818 Thanatophoric dysplasia Glasgow variant
5819 Thanatophoric dysplasia type 1

5820 Thanatophoric dysplasia type 2
5821 Theodor Hertz Goodman syndrome
5822 Thiamine responsive megaloblastic anemia syndrome
5823 Thickened earlobes with conductive deafness from incus-stapes
abnormalities
5824 Thiolase deficiency
5825 Thiopurine S methyltranferase deficiency
5826 Thomas syndrome
5827 Thompson Baraitser syndrome
5828 Thoracic celosomia
5829 Thoracic dysplasia hydrocephalus syndrome
5830 Thoracic outlet syndrome
5831 Thoraco abdominal enteric duplication
5832 Thoraco limb dysplasia Rivera type
5833 Thoracolaryngopelvic dysplasia
5834 Thoracomelic dysplasia
5835 Thoracopelvic dysostosis
5836 Thrombasthenia
5837 Thrombocytopathy asplenia miosis
5838 Thrombocytopenia 2
5839 Thrombocytopenia cerebellar hypoplasia short stature
5840 Thrombocytopenia Robin sequence
5841 Thrombocytopenia with elevated serum IgA and renal disease
5842 Thrombocytopenia, acquired amegakaryocytic
5843 Thrombomodulin anomalies, familial
5844 Thrombotic thrombocytopenic purpura, acquired
5845 Thrombotic thrombocytopenic purpura, congenital
5846 Thumb absent short stature immune deficiency
5847 Thumb deformity
5848 Thumb deformity, alopecia, pigmentation anomaly
5849 Thumb stiff brachydactyly mental retardation
5850 Thunderclap headache
5851 Thymic epithelial tumor
5852 Thymic hyperplasia
5853 Thymic-Renal-Anal-Lung dysplasia
5854 Thymoma, childhood
5855 Thyrocerebral-retinal syndrome
5856 Thyroglossal tract cyst
5857 Thyroid agenesis
5858 Thyroid cancer, anaplastic

5859 Thyroid cancer, childhood
5860 Thyroid cancer, follicular
5861 Thyroid cancer, medullary
5862 Thyroid hormone plasma membrane transport defect
5863 Thyrotoxic periodic paralysis
5864 Thyrotropin deficiency, isolated
5865 Tibia absent polydactyly arachnoid cyst
5866 Tibiae bowed radial anomalies osteopenia fracture
5867 Tibial aplasia ectrodactyly hydrocephalus
5868 Tibial hemimelia cleft lip palate
5869 Tick paralysis
5870 Tick-borne encephalitis
5871 Tièche-Jadassohn nevus
5872 Tietz syndrome
5873 Tietze syndrome
5874 Tight skin contracture syndrome, lethal
5875 Tiglic acidemia
5876 T-Lymphocytopenia
5877 Togaviridae disease
5878 Tollner Horst Manzke syndrome
5879 Tolosa Hunt syndrome
5880 Tome Brunet Fardeau syndrome
5881 Tongue cancer
5882 Toni-Debre-Fanconi syndrome
5883 Toni-Fanconi syndrome
5884 Tonoki syndrome
5885 TORCH syndrome
5886 Torg Winchester syndrome
5887 Toriello Carey syndrome
5888 Torsion dystonia
5889 Torsion dystonia with onset in infancy
5890 Torticollis keloids cryptorchidism renal dysplasia
5891 Torticollis, familial
5892 Total Hypotrichosis, Mari type
5893 Townes-Brocks syndrome
5894 Toxic epidermal necrolysis
5895 Toxocariasis
5896 Trabecular fiber myopathy
5897 Tracheal agenesis
5898 Tracheal agenesis without tracheoesophageal fistula

5899 Tracheobronchomalacia
5900 Tracheobronchomegaly
5901 Tracheobronchopathia osteoplastica
5902 Tracheoesophageal fistula
5903 Tracheoesophageal fistula symphalangism
5904 Tracheophageal fistula hypospadias
5905 Trachoma
5906 Tranebjaerg Svejgaard syndrome
5907 Transaldolase deficiency
5908 Transcobalamin 1 deficiency
5909 Transient acantholytic dermatosis
5910 Transient bullous dermolysis of the newborn
5911 Transient erythroblastopenia of childhood
5912 Transient global amnesia
5913 Transient neonatal arthrogryposis
5914 Transient neonatal diabetes mellitus
5915 Transitional cell carcinoma
5916 Transposition of the great arteries
5917 Transverse limb deficiency hemangioma
5918 Transverse myelitis
5919 Treacher Collins syndrome
5920 Treacher Collins syndrome 3
5921 Treft Sanborn Carey syndrome
5922 Trehalase deficiency
5923 Tremor hereditary essential, 1
5924 Tremor hereditary essential, 2
5925 Tremors, nystagmus and duodenal ulcers
5926 Treponema infection
5927 Trichinosis
5928 Tricho odonto onycho dermal syndrome
5929 Tricho odonto onychodysplasia syndactyly dominant type
5930 Tricho onychic dysplasia
5931 Tricho onycho hypohidrotic dysplasia
5932 Tricho retino dento digital syndrome
5933 Trichodental syndrome
5934 Tricho-dento-osseous syndrome
5935 Tricho-dento-osseous syndrome 1
5936 Trichodysplasia xeroderma
5937 Trichofolliculoma
5938 Tricho-hepato-enteric syndrome

5939 Trichomalacia
5940 Trichomegaly with intellectual disability, dwarfism and
pigmentary degeneration of retina
5941 Trichomegaly, cataract, and hereditary spherocytosis
5942 Trichoodontoonychial dysplasia
5943 Trichorhinophalangeal syndrome type 1
5944 Trichorhinophalangeal syndrome type 2
5945 Trichorhinophalangeal syndrome type 3
5946 Trichorrhexis nodosa syndrome
5947 Trichoscyphodysplasia
5948 Trichostasis spinulosa
5949 Trichothiodystrophy nonphotosensitive
5950 Trichothiodystrophy photosensitive
5951 Trichotillomania
5952 Trichuriasis
5953 Tricuspid atresia
5954 Trigeminal neuralgia
5955 Trigger thumb
5956 Trigonobrachycephaly, bulbous bifid nose, micrognathia, and
abnormalities of the hands and feet
5957 Trigonocephaly bifid nose acral anomalies
5958 Trigonocephaly ptosis mental retardation
5959 Trigonomacrocephaly tibial defect polydactyly
5960 Trihydroxycholestanoylcoa oxidase isolated deficiency
5961 Trimethylaminuria
5962 Triopia
5963 Triose phosphate-isomerase deficiency
5964 Triphalangeal thumb non opposable
5965 Triphalangeal thumb polysyndactyly syndrome
5966 Triphalangeal thumbs brachyectrodactyly
5967 Triple A syndrome
5968 Triploidy
5969 Trismus-pseudocamptodactyly syndrome
5970 Trisomy 11 mosaicism
5971 Trisomy 12 mosaicism
5972 Trisomy 13
5973 Trisomy 17 mosaicism
5974 Trisomy 18
5975 Trisomy 2 mosaicism
5976 Trisomy 22

5977 Trisomy 3 mosaicism
5978 Trochlea of the humerus aplasia of
5979 Trochlear dysplasia
5980 Trophoblastic tumor placental site
5981 Tropical sprue
5982 Trueb Burg Bottani syndrome
5983 Trypanosomiasis, Human East-African
5984 Trypanosomiasis, Human West-African
5985 Tryptophanuria with dwarfism
5986 Tsukahara Azuno Kajii syndrome
5987 Tuberculosis
5988 Tuberculous meningitis
5989 Tuberculous uveitis
5990 Tuberous sclerosis
5991 Tuberous sclerosis, type 1
5992 Tuberous sclerosis, type 2
5993 Tubular aggregate myopathy
5994 Tubulointerstitial nephritis and uveitis
5995 Tucker syndrome
5996 Tufted angioma
5997 Tufted hair folliculitis
5998 Tufting enteropathy
5999 Tukel syndrome
6000 Tularemia
6001 Tungiasis
6002 Tunglang Savage Bellman syndrome
6003 Turcot syndrome
6004 Turner syndrome
6005 Twenty-nail dystrophy
6006 Twin twin transfusion syndrome
6007 Tylosis
6008 Tylosis with esophageal cancer
6009 Type 1 plasminogen deficiency
6010 Typhoid fever
6011 Typhus
6012 Tyrosinemia type 1
6013 Tyrosinemia type 2
6014 Tyrosinemia type 3
6015 Tyrosine-oxidase temporary deficiency
6016 Uhl anomaly

6017 Ulcerative proctitis
6018 Ulerythema ophryogenesis
6019 Ulna and fibula absence of with severe limb deficiency
6020 Ulna and fibula, hypoplasia of
6021 Ulna hypoplasia with mental retardation
6022 Ulna metaphyseal dysplasia syndrome
6023 Ulnar hypoplasia lobster claw deformity of feet
6024 Ulnar-mammary syndrome
6025 Umbilical cord ulceration and intestinal atresia
6026 Uncombable hair syndrome
6027 Uniparental disomy of 6
6028 Uniparental disomy of 13
6029 Uniparental disomy of chromosome 11
6030 Uniparental disomy of chromosome 2
6031 Uniparental disomy, paternal, chromosome 14
6032 Unna-Thost palmoplantar keratoderma
6033 Unverricht-Lundborg disease
6034 Upington disease
6035 Upton Young syndrome
6036 Urachal adenocarcinoma
6037 Urachal cancer
6038 Urachal cyst
6039 Urea cycle disorders
6040 Urethral cancer
6041 Urethral obstruction sequence
6042 Urocanase deficiency
6043 Urogenital adysplasia
6044 Urogenital adysplasia, hereditary
6045 Uropathy distal obstructive polydactyly
6046 Usher syndrome
6047 Usher syndrome type 2A
6048 Usher syndrome type 3
6049 Usher syndrome, type 1
6050 Usher syndrome, type 1B
6051 Usher syndrome, type 1C
6052 Usher syndrome, type 1D
6053 Usher syndrome, type 1E
6054 Usher syndrome, type 1F
6055 Usher syndrome, type 2B
6056 Usher syndrome, type 2C

6057 Usual interstitial pneumonia
6058 Uterine sarcoma
6059 UV sensitive syndrome
6060 Uveal diseases
6061 VACTERL association
6062 VACTERL association with hydrocephaly, X-linked
6063 VACTERL hydrocephaly
6064 Vacuolar myopathy
6065 Vagina, absence of
6066 Vaginal cancer
6067 Vagneur Triolle Ripert syndrome
6068 Valinemia
6069 Van Allen Myhre syndrome
6070 Van Benthem-Driessen-Hanveld syndrome
6071 Van Bogaert-Hozay syndrome
6072 Van Buchem disease type 2
6073 Van Den Bosch syndrome
6074 Van der Woude syndrome
6075 Van der Woude syndrome 2
6076 Van Maldergem Wetzburger Verloes syndrome
6077 Van Regemorter Pierquin Vamos syndrome
6078 Variant Creutzfeldt-Jakob disease
6079 Varicella virus antenatal infection
6080 Variegate porphyria
6081 Vascular hyalinosis
6082 Vascular malposition
6083 Vasculopathy, retinal, with cerebral leukodystrophy
6084 Vasquez Hurst Sotos syndrome
6085 Vein of Galen aneurysm
6086 Velofacioskeletal syndrome
6087 Venencie Powell Gordon Winkelmann syndrome
6088 Venezuelan equine encephalitis
6089 Ventricular extrasystoles with syncopal episodes - perodactyly -
Robin sequence
6090 Ventricular fibrillation, idiopathic
6091 Ventricular septal defects
6092 Ventriculo-arterial discordance, isolated
6093 Ventruto Digirolamo Festa syndrome
6094 Verloes Bourguignon syndrome
6095 Verloes Van Maldergem Marneffe syndrome

6096 Verloove Vanhorick Brubakk syndrome
6097 Vernal keratitis
6098 Vernal keratoconjunctivitis
6099 Verrucous nevus acanthokeratolytic
6100 Vertebral body fusion overgrowth
6101 Vertebral fusion posterior lumbosacral blepharoptosis
6102 Vertical talus, congenital
6103 Vestibulocochlear dysfunction, progressive
6104 Vibratory angioedema
6105 Vibrio vulnificus infection
6106 Vici syndrome
6107 Viljoen Kallis Voges syndrome
6108 Viljoen Winship syndrome
6109 VIPoma
6110 Viral hemorrhagic fever
6111 Virilizing ovarian tumor
6112 Virus associated hemophagocytic syndrome
6113 Visceral neuropathy familial
6114 Visceral steatosis
6115 Visual pathway and hypothalamic glioma, childhood
6116 Vitamin A embryopathy
6117 Vitiligo mental retardation facial dysmorphism uremia
6118 Vitreoretinal degeneration
6119 Vitreoretinochoroidopathy dominant
6120 VLCAD deficiency
6121 Vocal cord dysfunction familial
6122 Vogt-Koyanagi-Harada syndrome
6123 Vohwinkel syndrome
6124 Von Hippel-Lindau syndrome
6125 Vulvar cancer
6126 Vulvar Vestibulitis Syndrome
6127 Waardenburg syndrome
6128 Waardenburg syndrome type 1
6129 Waardenburg syndrome type 2
6130 Waardenburg syndrome type 2A
6131 Waardenburg syndrome type 2B
6132 Waardenburg syndrome type 3
6133 Waardenburg syndrome type 4
6134 Wagner syndrome
6135 WAGR syndrome

6136 Walbaum Titran Durieux Crepin syndrome
6137 Waldenstrom macroglobulinemia
6138 Waldmann disease
6139 Walker Dyson syndrome
6140 Walker-Warburg syndrome
6141 Wallenberg syndrome
6142 Wallerian degeneration
6143 Wandering spleen
6144 Warburg micro syndrome
6145 Warfarin syndrome
6146 Warm antibody hemolytic anemia
6147 Warman Mulliken Hayward syndrome
6148 Warthin tumor
6149 Waterhouse–Friderichsen syndrome
6150 Watermelon stomach
6151 Watson syndrome
6152 WDHA syndrome
6153 Weaver Johnson syndrome
6154 Weaver like syndrome
6155 Weaver syndrome
6156 Weaver Williams syndrome
6157 Weber syndrome
6158 Webster Deming syndrome
6159 Wegener's granulomatosis
6160 Wegmann Jones Smith syndrome
6161 Weill-Marchesani syndrome
6162 Weinstein Kliman Scully syndrome
6163 Weissenbacher-Zweymuller syndrome
6164 Welander distal myopathy, Swedish type
6165 Weleber Hecht Bigley syndrome
6166 Wellesley Carmen French syndrome
6167 Wells syndrome
6168 Wells-Jankovic syndrome
6169 Werner's syndrome
6170 Wernicke-Korsakoff syndrome
6171 West nile encephalitis
6172 West nile virus
6173 West syndrome
6174 Western equine encephalitis
6175 Westphal disease

6176 Weyers acrofacial dysostosis
6177 Weyers ulnar ray/oligodactyly syndrome
6178 WHIM syndrome
6179 Whipple disease
6180 Whispering dysphonia, hereditary
6181 Whistling face syndrome, recessive form
6182 Whitaker syndrome
6183 White forelock with malformations
6184 White matter hypoplasia, corpus callosum agenesia, and mental
retardation
6185 White platelet syndrome
6186 White sponge nevus of cannon
6187 Whooping cough
6188 Wieacker syndrome
6189 Wiedemann Grosse Dibbern syndrome
6190 Wiedemann Oldigs Oppermann syndrome
6191 Wiedemann Opitz syndrome
6192 Wildervanck syndrome
6193 Wilkes Stevenson syndrome
6194 Willems De vries syndrome
6195 Williams syndrome
6196 Wilms' tumor
6197 Wilms tumor and radial bilateral aplasia
6198 Wilson disease
6199 Wilson-Mikity syndrome
6200 Wilson-Turner X-linked mental retardation syndrome
6201 Windblown hand
6202 Winkelman Bethge Pfeiffer syndrome
6203 Winter Harding Hyde syndrome
6204 Wisconsin syndrome
6205 Wiskott Aldrich syndrome
6206 Witkop syndrome
6207 Wittwer syndrome
6208 Wolffian tumor
6209 Wolff-Parkinson-White syndrome
6210 Wolf-Hirschhorn syndrome
6211 Wolfram syndrome
6212 Wolman disease
6213 Woodhouse Sakati syndrome
6214 Woods Black Norbury syndrome

6215 Woolly hair hypotrichosis everted lower lip and outstanding ears
6216 Woolly hair syndrome
6217 Worster Drought syndrome
6218 Wright Dyck syndrome
6219 Wrinkly skin syndrome
6220 WT limb blood syndrome
6221 Wyburn Mason's syndrome
6222 Xanthinuria type 1
6223 Xanthinuria type 2
6224 Xanthogranulomatous cholecystitis
6225 Xanthogranulomatous sialadenitis
6226 Xeroderma pigmentosum
6227 Xeroderma pigmentosum type 7
6228 Xeroderma pigmentosum, type 1
6229 Xeroderma pigmentosum, type 2
6230 Xeroderma pigmentosum, type 3
6231 Xeroderma pigmentosum, type 5
6232 Xeroderma pigmentosum, type 6
6233 Xeroderma pigmentosum, type 9
6234 Xeroderma pigmentosum, variant type
6235 Xeroderma talipes enamel defects
6236 XFE progeroid syndrome
6237 XK aprosencephaly
6238 X-linked adrenal hypoplasia congenita
6239 X-linked agammaglobulinemia
6240 X-linked Charcot-Marie-Tooth disease type 5
6241 X-linked congenital stationary night blindness
6242 X-linked creatine deficiency
6243 X-linked dominant scapuloperoneal myopathy
6244 X-linked hypohidrotic ectodermal dysplasia
6245 X-linked ichthyosis
6246 X-linked lymphoproliferative syndrome
6247 X-linked lymphoproliferative syndrome 1
6248 X-linked lymphoproliferative syndrome 2
6249 X-linked magnesium deficiency with Epstein-Barr virus infection
and neoplasia
6250 X-linked mental retardation and macro-orchidism
6251 X-linked mental retardation craniofacial abnormal microcephaly
club
6252 X-linked mental retardation De silva type

6253 X-linked mental retardation Gustavson type
6254 X-linked mental retardation type Martinez
6255 X-linked mental retardation type Raynaud
6256 X-linked mental retardation type Schutz
6257 X-linked mental retardation type Wittwer
6258 X-linked myopathy with excessive autophagy
6259 X-linked periventricular heterotopia
6260 X-linked severe combined immunodeficiency
6261 X-linked thrombocytopenia
6262 X-linked visceral heterotaxy 1
6263 Y chromosome infertility
6264 Y chromosome pericentric inversion
6265 Yaws
6266 Yellow fever
6267 Yellow nail syndrome
6268 Yemenite deaf-blind hypopigmentation syndrome
6269 Yolk sac tumor
6270 Yorifuji Okuno syndrome
6271 Young Hughes syndrome
6272 Young syndrome
6273 Yunis Varon syndrome
6274 Yusho Disease
6275 Zadik Barak Levin syndrome
6276 ZAP-70 deficiency
6277 Zazam Sheriff Phillips syndrome
6278 Zechi Ceide syndrome
6279 Zellweger syndrome
6280 Zerres Rietschel Majewski syndrome
6281 Zlotogora syndrome
6282 Zollinger-Ellison syndrome
6283 Zori Stalker Williams syndrome
6284 Zunich neuroectodermal syndrome
6285 Zuska's disease
6286 Zygomycosis
6287 11-beta-hydroxylase deficiency
6288 15q13.3 microdeletion syndrome
6289 16p11.2 deletion syndrome
6290 16q24.3 microdeletion syndrome
6291 17-alpha-hydroxylase deficiency
6292 17-beta hydroxysteroid dehydrogenase 3 deficiency

6293 17q21.31 microdeletion syndrome
6294 17q23.1q23.2 microdeletion syndrome
6295 18 Hydroxylase deficiency
6296 19p13.12 microdeletion syndrome
6297 1q21.1 microdeletion syndrome
6298 1q44 microdeletion syndrome
6299 2,4-Dienoyl-CoA reductase deficiency
6300 21-hydroxylase deficiency
6301 22q11.2 deletion syndrome
6302 22q11.2 duplication syndrome
6303 22q13.3 deletion syndrome
6304 2-hydroxyethyl methacrylate sensitization
6305 2-Hydroxyglutaric aciduria
6306 2-methyl-3-hydroxybutyric aciduria
6307 2-Methylacetoacetyl CoA thiolase deficiency
6308 2-methylbutyryl-CoA dehydrogenase deficiency
6309 2q23.1 microdeletion syndrome
6310 2q37 deletion syndrome
6311 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
6312 3 Methylcrotonyl-CoA carboxylase 1 deficiency
6313 3 methylglutaconic aciduria type I
6314 3 methylglutaconic aciduria type IV
6315 3 methylglutaconic aciduria type V
6316 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
6317 3-beta-hydroxysteroid dehydrogenase deficiency
6318 3-Hydroxyisobutyric aciduria
6319 3M syndrome
6320 3-methylcrotonyl-CoA carboxylase deficiency
6321 3-methylglutaconic aciduria type III
6322 3p deletion syndrome
6323 46, XY disorders of sexual development
6324 46,XX Gonadal dysgenesis epibulbar dermoid
6325 46,XX testicular disorder of sex development
6326 47 XXX syndrome
6327 47, XYY syndrome
6328 48,XXXY syndrome
6329 48,XXYY syndrome
6330 49,XXXXX syndrome
6331 49,XXXXY syndrome
6332 49,XXXYY syndrome

Note:
6333 4-hydroxyphenylacetic aciduria
1. All the data is from online resources and to our interpretations. The data is for information.
2. IPR & Regulatory Centre at Pharmexcil is not liable for any discrepancies in the data
provided.
3. The legal status has to be periodically confirmed with country’s regulatory authority.
4. Orphan drug products/Orphan diseases are categorized based on country’s designation criteria.