Table 4: List of Rare Diseases and Related Terms as per US ...
Table 4: List of Rare Diseases and Related Terms as per US ...
Table 4: List of Rare Diseases and Related Terms as per US ...
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<strong>Table</strong> 4: <strong>List</strong> <strong>of</strong> <strong>Rare</strong> <strong>Dise<strong>as</strong>es</strong> <strong>and</strong> <strong>Related</strong> <strong>Terms</strong> <strong>as</strong> <strong>per</strong> <strong>US</strong><br />
Department <strong>of</strong> Health (<strong>as</strong> on 25th Feb 2013)<br />
S. <strong>Rare</strong> <strong>Dise<strong>as</strong>es</strong><br />
No<br />
1 Aagenaes syndrome<br />
2 Aarskog syndrome<br />
3 A<strong>as</strong>e-Smith syndrome<br />
4 ABCD syndrome<br />
5 Abderhalden Kaufmann Lignac syndrome<br />
6 Abdominal aortic aneurysm<br />
7 Abdominal chemodectom<strong>as</strong> with cutaneous angiolipom<strong>as</strong><br />
8 Abdominal cystic lymphangioma<br />
9 Abdominal obesity metabolic syndrome<br />
10 Aberrant subclavian artery<br />
11 Abetalipoproteinemia<br />
12 Abidi X-linked mental retardation syndrome<br />
13 Ablepharon macrostomia syndrome<br />
14 Abrikosov's tumor<br />
15 Abruzzo Erickson syndrome<br />
16 Absence <strong>of</strong> fingerprints congenital milia<br />
17 Absence <strong>of</strong> gluteal muscle<br />
18 Absence <strong>of</strong> septum pellucidum<br />
19 Absence <strong>of</strong> Tibia<br />
20 Absence <strong>of</strong> tibia with polydactyly<br />
21 Absent bre<strong>as</strong>ts <strong>and</strong> nipples<br />
22 Absent patella<br />
23 Absent T lymphocytes<br />
24 Abuse dwarfism syndrome<br />
25 Acalvaria<br />
26 Acanthamoeba infection<br />
27 Acanthocheilonemi<strong>as</strong>is<br />
28 Acanthocytosis<br />
29 Acanthoma<br />
30 Acanthosis nigricans<br />
31 Acanthosis nigricans muscle cramps acral enlargement<br />
32 Acardia<br />
33 Acatal<strong>as</strong>emia<br />
34 Accessory deep <strong>per</strong>oneal nerve<br />
35 Accessory pancre<strong>as</strong><br />
36 ACDC
37 Acerulopl<strong>as</strong>minemia<br />
38 Acetyl CoA acetyltransfer<strong>as</strong>e 2 deficiency<br />
39 Acetyl-carnitine deficiency<br />
40 Achal<strong>as</strong>ia<br />
41 Achal<strong>as</strong>ia microcephaly syndrome<br />
42 Achal<strong>as</strong>ia, familial esophageal<br />
43 Achard syndrome<br />
44 Achard Thiers syndrome<br />
45 Acheiropody<br />
46 Achondrogenesis<br />
47 Achondrogenesis type 1A<br />
48 Achondrogenesis type 1B<br />
49 Achondrogenesis type 2<br />
50 Achondropl<strong>as</strong>ia<br />
51 Achondropl<strong>as</strong>ia <strong>and</strong> severe combined immunodeficiency<br />
52 Achondropl<strong>as</strong>ia <strong>and</strong> Swiss type agammaglobulinemia<br />
53 Achromatopsia 2<br />
54 Achromatopsia 3<br />
55 Acinic cell carcinoma<br />
56 Acitretin embryopathy<br />
57 Ackerman syndrome<br />
58 Acoustic neuroma<br />
59 Acquired agranulocytosis<br />
60 Acquired angioedema<br />
61 Acquired fructose intolerance<br />
62 Acquired hemophilia<br />
63 Acquired hypoprothrombinemia<br />
64 Acquired pure red cell apl<strong>as</strong>ia<br />
65 Acquired Von Willebr<strong>and</strong> syndrome<br />
66 Acral dysostosis dyserythropoiesis syndrome<br />
67 Acral lentiginous melanoma<br />
68 Acro coxo mesomelic dyspl<strong>as</strong>ia<br />
69 Acrocallosal syndrome, Schinzel type<br />
70 Acrocapit<strong>of</strong>emoral dyspl<strong>as</strong>ia<br />
71 Acrocephalopolydactylous dyspl<strong>as</strong>ia<br />
72 Acrocephalopolydactyly<br />
73 Acrodermatitis<br />
74 Acrodermatitis enteropathica<br />
75 Acrodysostosis<br />
76 Acrodyspl<strong>as</strong>ia scoliosis
77 Acrodyspl<strong>as</strong>ia with ossification abnormalities, short stature <strong>and</strong><br />
fibular hypopl<strong>as</strong>ia<br />
78 Acr<strong>of</strong>acial dysostosis Catania type<br />
79 Acr<strong>of</strong>acial dysostosis Palagonia type<br />
80 Acr<strong>of</strong>acial dysostosis Preis type<br />
81 Acr<strong>of</strong>acial dysostosis Rodriguez type<br />
82 Acr<strong>of</strong>ront<strong>of</strong>acion<strong>as</strong>al dysostosis syndrome<br />
83 Acrogeria, Gottron type<br />
84 Acrokeratoel<strong>as</strong>toidosis <strong>of</strong> Costa<br />
85 Acromegaloid changes, cutis verticis gyrata <strong>and</strong> corneal leukoma<br />
86 Acromegaloid facial appearance syndrome<br />
87 Acromegaloid features, overgrowth, cleft palate <strong>and</strong> hernia<br />
88 Acromegaloid hy<strong>per</strong>trichosis syndrome<br />
89 Acromegaly<br />
90 Acromelanosis<br />
91 Acromelic fronton<strong>as</strong>al dysostosis<br />
92 Acromesomelic dyspl<strong>as</strong>ia<br />
93 Acromesomelic dyspl<strong>as</strong>ia Campailla Martinelli type<br />
94 Acromesomelic dyspl<strong>as</strong>ia Hunter Thompson type<br />
95 Acromesomelic dyspl<strong>as</strong>ia Maroteaux type<br />
96 Acromicric dyspl<strong>as</strong>ia<br />
97 Acroosteolysis dominant type<br />
98 Acropectoral syndrome<br />
99 Acro-pectoro-renal field defect<br />
100 Acropectorovertebral dyspl<strong>as</strong>ia F form<br />
101 Acrorenal m<strong>and</strong>ibular syndrome<br />
102 Acrorenal syndrome recessive<br />
103 Acrospiroma<br />
104 ACTH-independent macronodular adrenal hy<strong>per</strong>pl<strong>as</strong>ia<br />
105 Actinic cheilitis<br />
106 Actinomycosis<br />
107 Acute articular rheumatism<br />
108 Acute biphenotypic leukemia<br />
109 Acute cholinergic dysautonomia<br />
110 Acute disseminated encephalomyelitis<br />
111 Acute erythrobl<strong>as</strong>tic leukemia<br />
112 Acute erythroid leukemia<br />
113 Acute fatty liver <strong>of</strong> pregnancy<br />
114 Acute febrile neutrophilic dermatosis<br />
115 Acute graft versus host dise<strong>as</strong>e
116 Acute hemorrhagic leukoencephalitis<br />
117 Acute intermittent porphyria<br />
118 Acute lymphobl<strong>as</strong>tic leukemia<br />
119 Acute lymphobl<strong>as</strong>tic leukemia congenital sporadic aniridia<br />
120 Acute lymphobl<strong>as</strong>tic leukemia, childhood<br />
121 Acute megakaryobl<strong>as</strong>tic leukemia<br />
122 Acute monobl<strong>as</strong>tic leukemia<br />
123 Acute mountain sickness<br />
124 Acute myelobl<strong>as</strong>tic leukemia type 1<br />
125 Acute myelobl<strong>as</strong>tic leukemia type 2<br />
126 Acute myelobl<strong>as</strong>tic leukemia type 3<br />
127 Acute myelobl<strong>as</strong>tic leukemia type 4<br />
128 Acute myelobl<strong>as</strong>tic leukemia type 5<br />
129 Acute myelobl<strong>as</strong>tic leukemia type 6<br />
130 Acute myelobl<strong>as</strong>tic leukemia type 7<br />
131 Acute myelobl<strong>as</strong>tic leukemia with maturation<br />
132 Acute myelobl<strong>as</strong>tic leukemia without maturation<br />
133 Acute myelocytic leukemia<br />
134 Acute myeloid leukemia, adult<br />
135 Acute myeloid leukemia, childhood<br />
136 Acute myelomonocytic leukemia<br />
137 Acute necrotizing ulcerative gingivitis<br />
138 Acute non lymphobl<strong>as</strong>tic leukemia<br />
139 Acute promyelocytic leukemia<br />
140 Acute respiratory distress syndrome<br />
141 Acute zonal occult outer retinopathy<br />
142 Adactylia unilateral<br />
143 Adams Oliver syndrome<br />
144 Addison's dise<strong>as</strong>e<br />
145 Adducted thumb <strong>and</strong> clubfoot syndrome<br />
146 Adducted thumbs Dundar type<br />
147 Adenine phosphoribosyltransfer<strong>as</strong>e deficiency<br />
148 Adenoamelobl<strong>as</strong>toma<br />
149 Adenocarcinoid tumor<br />
150 Adenocarcinoma <strong>of</strong> lung<br />
151 Adenocarcinoma <strong>of</strong> the appendix<br />
152 Adenoid cystic carcinoma<br />
153 Adenoma <strong>of</strong> the adrenal gl<strong>and</strong><br />
154 Adenomyosis<br />
155 Adenosarcoma <strong>of</strong> the uterus
156 Adenosine deamin<strong>as</strong>e deficiency<br />
157 Adenosine monophosphate deamin<strong>as</strong>e 1 deficiency<br />
158 Adenylosuccin<strong>as</strong>e deficiency<br />
159 Adie syndrome<br />
160 Adiposis dolorosa<br />
161 Adnexal spiradenoma/cylindroma <strong>of</strong> a sweat gl<strong>and</strong><br />
162 Adrenal cancer<br />
163 Adrenal medulla cancer<br />
164 Adrenocortical carcinoma<br />
165 Adrenoleukodystrophy X-linked<br />
166 Adrenomyeloneuropathy<br />
167 Adrenomyodystrophy<br />
168 Adult neuronal ceroid lip<strong>of</strong>uscinosis<br />
169 Adult progressive spinal muscular atrophy Aran Duchenne type<br />
170 ADULT syndrome<br />
171 Adult-onset citrullinemia type II<br />
172 Adult-onset vitelliform macular dystrophy<br />
173 Advanced sleep ph<strong>as</strong>e syndrome, familial<br />
174 Aerobic actinomyces infection<br />
175 Afibrinogenemia<br />
176 Agammaglobulinemia X-linked type 2<br />
177 Agammaglobulinemia, microcephaly, <strong>and</strong> severe dermatitis<br />
178 Agammaglobulinemia, non-Bruton type<br />
179 Aganglionosis, total intestinal<br />
180 AGAT deficiency<br />
181 Agenesis <strong>of</strong> the dorsal pancre<strong>as</strong><br />
182 Aggressive NK cell leukemia<br />
183 Aglossia <strong>and</strong> Situs Inversus<br />
184 Agnathia-microstomia-synotia<br />
185 Agnosia<br />
186 Agyria pachygyria polymicrogyria<br />
187 Agyria-pachygyria type 1<br />
188 Ahumada Del C<strong>as</strong>tillo syndrome<br />
189 Aicardi syndrome<br />
190 Aicardi-Goutieres syndrome<br />
191 Aicardi-Goutieres syndrome type 1<br />
192 Aicardi-Goutieres syndrome type 2<br />
193 Aicardi-Goutieres syndrome type 3<br />
194 Aicardi-Goutieres syndrome type 4<br />
195 Aicardi-Goutieres syndrome type 5
196 AIDS Dementia Complex<br />
197 AIDS dysmorphic syndrome<br />
198 Ainhum<br />
199 Akaba Hay<strong>as</strong>aka syndrome<br />
200 Akesson syndrome<br />
201 Aksu von Stockhausen syndrome<br />
202 AL amyloidosis<br />
203 Al Gazali Aziz Salem syndrome<br />
204 Al Gazali Khidr Prem Ch<strong>and</strong>ran syndrome<br />
205 Al Gazali Sabrinathan Nair syndrome<br />
206 Al Gazali syndrome<br />
207 Alagille syndrome<br />
208 Al<strong>and</strong> isl<strong>and</strong> eye dise<strong>as</strong>e<br />
209 Alaninuria with microcephaly, dwarfism, enamel hypopl<strong>as</strong>ia <strong>and</strong><br />
diabetes mellitus<br />
210 Albinism<br />
211 Albinism deafness syndrome<br />
212 Albinism immunodeficiency<br />
213 Albinism ocular late onset sensorineural deafness<br />
214 Albinism, minimal pigment type<br />
215 Albright like syndrome<br />
216 Albright's hereditary osteodystrophy<br />
217 Aldred syndrome<br />
218 Alex<strong>and</strong>er dise<strong>as</strong>e<br />
219 Al-Gazali-Donnai-Mueller syndrome<br />
220 ALK+ histiocytosis<br />
221 Alkaptonuria<br />
222 Allain-Babin-Demarquez syndrome<br />
223 Allan-Herndon-Dudley syndrome<br />
224 Allergic angiitis<br />
225 Allergic autoimmune thyroiditis<br />
226 Allergic bronchopulmonary <strong>as</strong><strong>per</strong>gillosis<br />
227 Allergic encephalomyelitis<br />
228 Aloi Tom<strong>as</strong>ini Isaia syndrome<br />
229 Alopecia congenita keratosis palmoplantaris<br />
230 Alopecia contractures dwarfism mental retardation<br />
231 Alopecia epilepsy oligophrenia syndrome <strong>of</strong> Moynahan<br />
232 Alopecia immunodeficiency<br />
233 Alopecia macular degeneration growth retardation<br />
234 Alopecia mental retardation syndrome 1
235 Alopecia mental retardation syndrome 2<br />
236 Alopecia universalis onychodystrophy vitiligo<br />
237 Alopecia, epilepsy, pyorrhea, mental subnormality<br />
238 Al<strong>per</strong>s syndrome<br />
239 Alpha 1-antitrypsin deficiency<br />
240 Alpha mannosidosis type 2<br />
241 Alpha-2 deficient collagen dise<strong>as</strong>e<br />
242 Alpha-ketoglutarate dehydrogen<strong>as</strong>e deficiency<br />
243 Alpha-mannosidosis type 1<br />
244 Alpha-Thal<strong>as</strong>semia<br />
245 Alpha-thal<strong>as</strong>semia x-linked intellectual disability syndrome<br />
246 Alpha-thal<strong>as</strong>semia-abnormal morphogenesis<br />
247 Alport syndrome<br />
248 Alsing syndrome<br />
249 ALS-like syndrome <strong>of</strong> encephalomyopathy<br />
250 Alström syndrome<br />
251 Alternating hemiplegia <strong>of</strong> childhood<br />
252 Aluminium lung<br />
253 Alveolar capillary dyspl<strong>as</strong>ia<br />
254 Alveolar echinococcosis<br />
255 Alveolar s<strong>of</strong>t part sarcoma<br />
256 Alveolitis, extrinsic allergic<br />
257 Alzheimer dise<strong>as</strong>e familial<br />
258 Alzheimer dise<strong>as</strong>e type 1<br />
259 Alzheimer dise<strong>as</strong>e type 2<br />
260 Alzheimer dise<strong>as</strong>e type 3<br />
261 Alzheimer dise<strong>as</strong>e type 4<br />
262 Alzheimer's dise<strong>as</strong>e without neur<strong>of</strong>ibrillary tangles<br />
263 Amaurosis congenita cone-rod type with congenital hy<strong>per</strong>trichosis<br />
264 Amaurosis fugax<br />
265 Ambr<strong>as</strong> syndrome<br />
266 Amebi<strong>as</strong>is<br />
267 Amelia cleft lip palate hydrocephalus iris coloboma<br />
268 Amelobl<strong>as</strong>tic carcinoma<br />
269 Amelogenesis im<strong>per</strong>fecta<br />
270 Amelogenesis im<strong>per</strong>fecta hypomaturation type<br />
271 Amelogenesis im<strong>per</strong>fecta hypopl<strong>as</strong>tic type, IG<br />
272 Amelogenesis im<strong>per</strong>fecta hypopl<strong>as</strong>tic/hypomaturation X-linked 1<br />
273 Amelogenesis im<strong>per</strong>fecta local hypopl<strong>as</strong>tic<br />
274 Amelogenesis im<strong>per</strong>fecta nephrocalcinosis
275 Amelogenesis im<strong>per</strong>fecta pigmented hypomaturation type<br />
276 Amelogenesis im<strong>per</strong>fecta, hypopl<strong>as</strong>tic/hypomaturation, X-linked<br />
2<br />
277 Ameloonychohypohidrotic syndrome<br />
278 Amino aciduria with mental deficiency, dwarfism, muscular<br />
dystrophy, osteoporosis <strong>and</strong> acidosis<br />
279 Aminoaciduria<br />
280 Aminoacyl<strong>as</strong>e 1 deficiency<br />
281 Aminolevulinate dehydrat<strong>as</strong>e deficiency porphyria<br />
282 Amish lethal microcephaly<br />
283 Amniotic b<strong>and</strong> syndrome<br />
284 Ampola syndrome<br />
285 Amyloid neuropathy<br />
286 Amyloidosis AA<br />
287 Amyloidosis Beta2M<br />
288 Amyloidosis bronchopulmonary<br />
289 Amyloidosis cerebral<br />
290 Amyloidosis corneal<br />
291 Amyloidosis familial visceral<br />
292 Amyloidosis Finnish type<br />
293 Amyloidosis nodular localized cutaneous<br />
294 Amyloidosis <strong>of</strong> gingiva <strong>and</strong> conjunctiva, with mental retardation<br />
295 Amyloidosis primary cutaneous<br />
296 Amyopathic dermatomyositis<br />
297 Amyopl<strong>as</strong>ia m<strong>and</strong>ibul<strong>of</strong>acial dysostosis<br />
298 Amyotonia congenita<br />
299 Amyotrophic lateral sclerosis<br />
300 Amyotrophic lateral sclerosis type 10<br />
301 Amyotrophic lateral sclerosis type 11<br />
302 Amyotrophic lateral sclerosis type 2<br />
303 Amyotrophic lateral sclerosis type 3<br />
304 Amyotrophic lateral sclerosis type 4<br />
305 Amyotrophic lateral sclerosis type 5<br />
306 Amyotrophic lateral sclerosis type 6<br />
307 Amyotrophic lateral sclerosis type 7<br />
308 Amyotrophic lateral sclerosis type 8<br />
309 Amyotrophic lateral sclerosis type 9<br />
310 Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1<br />
311 Amyotrophy, neurogenic scapulo<strong>per</strong>oneal, New Engl<strong>and</strong> type<br />
312 Anal cancer
313 Anal sphincter dyspl<strong>as</strong>ia<br />
314 Anapl<strong>as</strong>tic <strong>as</strong>trocytoma<br />
315 Anapl<strong>as</strong>tic ependymoma<br />
316 Anapl<strong>as</strong>tic ganglioglioma<br />
317 Anapl<strong>as</strong>tic large cell lymphoma<br />
318 Anapl<strong>as</strong>tic oligo<strong>as</strong>trocytoma<br />
319 Anapl<strong>as</strong>tic oligodendroglioma<br />
320 Anapl<strong>as</strong>tic pl<strong>as</strong>macytoma<br />
321 Anapl<strong>as</strong>tic small cell lymphoma<br />
322 Anauxetic dyspl<strong>as</strong>ia<br />
323 Ancylostomi<strong>as</strong>is<br />
324 Andermann syndrome<br />
325 Andersen-Tawil syndrome<br />
326 Androgen insensitivity syndrome<br />
327 Androgen insensitivity syndrome, mild<br />
328 Androgen insensitivity syndrome, partial<br />
329 Anemia due to Adenosine triphosphat<strong>as</strong>e deficiency<br />
330 Anemia siderobl<strong>as</strong>tic <strong>and</strong> spinocerebellar ataxia<br />
331 Anencephaly<br />
332 Anencephaly <strong>and</strong> spina bifida X-linked<br />
333 Aneurysm <strong>of</strong> sinus <strong>of</strong> Valsalva<br />
334 Aneurysm, intracranial berry, 2<br />
335 Aneurysmal bone cysts<br />
336 Angel shaped phalangoepiphyseal dyspl<strong>as</strong>ia<br />
337 Angelman syndrome<br />
338 Angi<strong>of</strong>ollicular ganglionic hy<strong>per</strong>pl<strong>as</strong>ia<br />
339 Angi<strong>of</strong>ollicular lymph hy<strong>per</strong>pl<strong>as</strong>ia<br />
340 Angioimmunobl<strong>as</strong>tic lymphadenopathy with dysproteinemia<br />
341 Angiokeratoma mental retardation coarse face<br />
342 Angioma hereditary neurocutaneous<br />
343 Angioma serpiginosum, autosomal dominant<br />
344 Angioma serpiginosum, X-linked<br />
345 Angiomatosis, diffuse corticomeningeal, <strong>of</strong> Divry <strong>and</strong> Van<br />
Bogaert<br />
346 Angiomatosis, leptomeningeal capillary venous<br />
347 Angiomatous lymphoid hamartoma<br />
348 Angiomyomatous Hamartoma<br />
349 Angiosarcoma <strong>of</strong> the bre<strong>as</strong>t<br />
350 Angiosarcoma <strong>of</strong> the liver<br />
351 Angiosarcoma <strong>of</strong> the scalp
352 Angiostrongyli<strong>as</strong>is<br />
353 Aniridia<br />
354 Aniridia absent patella<br />
355 Aniridia ataxia renal agenesis psychomotor retardation<br />
356 Aniridia mental retardation syndrome<br />
357 Aniridia ptosis mental retardation obesity familial<br />
358 Aniridia renal agenesis psychomotor retardation<br />
359 Aniridia, cerebellar ataxia <strong>and</strong> mental deficiency<br />
360 Anisaki<strong>as</strong>is<br />
361 Ankle defects short stature<br />
362 Ankyloblepharon filiforme adnatum cleft palate<br />
363 Ankyloblepharon filiforme im<strong>per</strong>forate anus<br />
364 Ankylosis <strong>of</strong> teeth<br />
365 Annular constricting b<strong>and</strong>s<br />
366 Annular pancre<strong>as</strong><br />
367 Anodontia<br />
368 Anomalous origin <strong>of</strong> right pulmonary artery familial<br />
369 Anonychia congenita<br />
370 Anonychia ectrodactyly<br />
371 Anonychia onychodystrophy<br />
372 Anonychia total with microcephaly<br />
373 Anonychia-onychodystrophy with brachydactyly type B <strong>and</strong><br />
ectrodactyly<br />
374 Anonychia-onychodystrophy with hypopl<strong>as</strong>ia or absence <strong>of</strong> distal<br />
phalanges<br />
375 Anophthalmia cleft lip palate hypothalamic disorder<br />
376 Anophthalmia cleft palate micrognathia<br />
377 Anophthalmia esophageal atresia cryptorchidism<br />
378 Anophthalmia megalocornea cardiopathy skeletal anomalies<br />
379 Anophthalmia microcephaly hypogonadism<br />
380 Anophthalmia or microphthalmia, retinal dystrophy <strong>and</strong>/or<br />
myopia <strong>as</strong>sociated with brain anomalies<br />
381 Anophthalmia plus syndrome<br />
382 Anophthalmos with limb anomalies<br />
383 Anorchia<br />
384 Anorectal atresia<br />
385 Anotia facial palsy cardiac defect<br />
386 Antecubital pterygium<br />
387 Anterior pituitary insufficiency, familial<br />
388 Anterior polar cataract 2
389 Anterior segment mesenchymal dysgenesis<br />
390 Anterior spinal artery stroke<br />
391 Anterior uveitis<br />
392 Anthrax<br />
393 Antigen-peptide-transporter 2 deficiency<br />
394 Anti-HLA hy<strong>per</strong>immunization<br />
395 Antihy<strong>per</strong>tensive drugs antenatal infection<br />
396 Antiphospholipid syndrome<br />
397 Anti-pl<strong>as</strong>min deficiency, congenital<br />
398 Antisocial <strong>per</strong>sonality disorder<br />
399 Antisynthet<strong>as</strong>e syndrome<br />
400 Antley Bixler syndrome<br />
401 Anton's syndrome<br />
402 Aorta-pulmonary artery fistula<br />
403 Aortic aneurysm, familial thoracic 4<br />
404 Aortic arch anomaly with peculiar facies <strong>and</strong> mental retardation<br />
405 Aortic arch interruption<br />
406 Aortic arches defect<br />
407 Aortic coarctation<br />
408 Aortic dissection lentiginosis<br />
409 Aortic valve stenosis<br />
410 Aortic valves stenosis <strong>of</strong> the child<br />
411 Aortopulmonary window<br />
412 A<strong>per</strong>t like polydactyly syndrome<br />
413 A<strong>per</strong>t syndrome<br />
414 Aphalangia partial with syndactyly <strong>and</strong> duplication <strong>of</strong> metatarsal<br />
IV<br />
415 Aphthous stomatitis<br />
416 Apl<strong>as</strong>ia cutis autosomal recessive<br />
417 Apl<strong>as</strong>ia cutis congenita<br />
418 Apl<strong>as</strong>ia cutis congenita dominant<br />
419 Apl<strong>as</strong>ia cutis congenita intestinal lymphangiect<strong>as</strong>ia<br />
420 Apl<strong>as</strong>ia cutis congenita <strong>of</strong> limbs recessive<br />
421 Apl<strong>as</strong>ia cutis congenita recessive<br />
422 Apl<strong>as</strong>ia cutis myopia<br />
423 Apl<strong>as</strong>tic anemia<br />
424 Apo A-I deficiency<br />
425 Apolipoprotein C 2I deficiency<br />
426 Apparent mineralocorticoid excess<br />
427 Apraxia
428 APUDoma<br />
429 Aquagenic pruritus<br />
430 Aquagenic urticaria<br />
431 Arachindonic acid, absence <strong>of</strong><br />
432 Arachnodactyly mental retardation dysmorphism<br />
433 Arachnoid cysts<br />
434 Arachnoiditis<br />
435 Arakawa's syndrome 2<br />
436 Arbovirosis<br />
437 AREDYLD<br />
438 Arena syndrome<br />
439 Argin<strong>as</strong>e deficiency<br />
440 Argininosuccinic aciduria<br />
441 Arhinia choanal atresia microphthalmia<br />
442 Arnold Stickler Bourne syndrome<br />
443 Aromat<strong>as</strong>e deficiency<br />
444 Aromatic amino acid decarboxyl<strong>as</strong>e deficiency<br />
445 Arrhinia<br />
446 Arrhythmogenic right ventricular dyspl<strong>as</strong>ia<br />
447 Arroyo Garcia Cimadevilla syndrome<br />
448 Arterial calcification <strong>of</strong> infancy<br />
449 Arterial tortuosity syndrome<br />
450 Arthritis short stature deafness<br />
451 Arthrogryposis <strong>and</strong> ectodermal dyspl<strong>as</strong>ia<br />
452 Arthrogryposis distal type 2B<br />
453 Arthrogryposis due to muscular dystrophy<br />
454 Arthrogryposis epileptic seizures migrational brain disorder<br />
455 Arthrogryposis IUGR thoracic dystrophy<br />
456 Arthrogryposis like disorder<br />
457 Arthrogryposis multiplex congenita<br />
458 Arthrogryposis multiplex congenita CNS calcification<br />
459 Arthrogryposis multiplex congenita distal<br />
460 Arthrogryposis multiplex congenita distal type 1<br />
461 Arthrogryposis multiplex congenita neurogenic type<br />
462 Arthrogryposis multiplex congenita pulmonary hypopl<strong>as</strong>ia<br />
463 Arthrogryposis multiplex congenita whistling face<br />
464 Arthrogryposis multiplex congenita, distal type 2<br />
465 Arthrogryposis multiplex congenita, distal, X-linked<br />
466 Arthrogryposis multiplex with deafness, inguinal herni<strong>as</strong>, <strong>and</strong><br />
early death
467 Arthrogryposis renal dysfunction cholest<strong>as</strong>is syndrome<br />
468 Arthrogryposis spinal muscular atrophy<br />
469 Arthrogryposis, distal, type 2E<br />
470 Arthrogryposis, distal, with hypopituitarism, mental retardation,<br />
<strong>and</strong> facial anomalies<br />
471 Arthrogryposis, ectodermal dyspl<strong>as</strong>ia, cleft lip/palate, <strong>and</strong><br />
developmental delay<br />
472 Arthrogryposis-like h<strong>and</strong> anomaly <strong>and</strong> sensorineural deafness<br />
473 Arts syndrome<br />
474 Asbestosis<br />
475 Ascher's Syndrome<br />
476 Asherman's syndrome<br />
477 Aspartylglycosaminuria<br />
478 As<strong>per</strong>gillosis<br />
479 As<strong>per</strong>gillus niger infection<br />
480 Asphyxia neonatorum<br />
481 Asrar Facharzt Haque syndrome<br />
482 Asternia<br />
483 Asternia with Cardiac, Diaphragmatic, <strong>and</strong> Abdominal defects<br />
484 Astley-Kendall syndrome<br />
485 Astrobl<strong>as</strong>toma<br />
486 Ataxia telangiect<strong>as</strong>ia<br />
487 Ataxia telangiect<strong>as</strong>ia variant V1<br />
488 Ataxia with vitamin E deficiency<br />
489 Atelosteogenesis type 1<br />
490 Atelosteogenesis type 2<br />
491 Atelosteogenesis type 3<br />
492 Athab<strong>as</strong>kan brainstem dysgenesis<br />
493 Athetosis<br />
494 Atkin syndrome<br />
495 Atlanto-Axial Fusion<br />
496 Atransferrinemia<br />
497 Atresia <strong>of</strong> small intestine<br />
498 Atrial fibrillation familial<br />
499 Atrial myxoma, familial<br />
500 Atrial septal defect coronary sinus<br />
501 Atrial septal defect ostium primum<br />
502 Atrial septal defect ostium secundum<br />
503 Atrial septal defect sinus venosus<br />
504 Atrioventricular septal defect
505 Atrophoderma <strong>of</strong> Pierini <strong>and</strong> P<strong>as</strong>ini<br />
506 Atrophodermia vermiculata<br />
507 Attenuated familial adenomatous polyposis<br />
508 Atypical hemolytic uremic syndrome<br />
509 Atypical lipodystrophy<br />
510 Atypical mycobacteriosis, familial<br />
511 Atypical Rett syndrome<br />
512 Auditory neuropathy<br />
513 Auditory <strong>per</strong>ceptual disorder<br />
514 Auralcephalosyndactyly<br />
515 Auriculo-condylar syndrome<br />
516 Auriculoosteodyspl<strong>as</strong>ia<br />
517 Ausems Wittebol-Post Hennekam syndrome<br />
518 Autism with port-wine stain<br />
519 Autoimmune enteropathy<br />
520 Autoimmune hemolytic anemia<br />
521 Autoimmune hepatitis<br />
522 Autoimmune Inner Ear dise<strong>as</strong>e<br />
523 Autoimmune lymphoproliferative syndrome<br />
524 Autoimmune myocarditis<br />
525 Autoimmune oophoritis<br />
526 Autoimmune pancreatitis<br />
527 Autoimmune polygl<strong>and</strong>ular syndrome type 1<br />
528 Autoimmune polygl<strong>and</strong>ular syndrome type 2<br />
529 Autoimmune polygl<strong>and</strong>ular syndrome type 3<br />
530 Autoimmune progesterone dermatitis<br />
531 Autosomal dominant Alport syndrome<br />
532 Autosomal dominant compelling helio ophthalmic outburst<br />
syndrome<br />
533 Autosomal dominant hy<strong>per</strong> IgE syndrome<br />
534 Autosomal dominant neuronal ceroid lip<strong>of</strong>uscinosis 4B<br />
535 Autosomal dominant optic atrophy, hearing loss, <strong>and</strong> <strong>per</strong>ipheral<br />
neuropathy<br />
536 Autosomal dominant partial epilepsy with auditory features<br />
537 Autosomal dominant pseudohypoaldosteronism type 1<br />
538 Autosomal recessive Alport syndrome<br />
539 Autosomal recessive cerebellar ataxia with cabc1/adck3 gene<br />
mutations<br />
540 Autosomal recessive hy<strong>per</strong> IgE syndrome<br />
541 Autosomal recessive juvenile Parkinson dise<strong>as</strong>e
542 Autosomal recessive neuronal ceroid lip<strong>of</strong>uscinosis 4A<br />
543 Autosomal recessive nonsyndromic congenital nuclear cataract<br />
544 Autosomal recessive optic atrophy, hearing loss, <strong>and</strong> <strong>per</strong>ipheral<br />
neuropathy<br />
545 Autosomal recessive polycystic kidney dise<strong>as</strong>e<br />
546 Autosomal recessive pseudohypoaldosteronism type 1<br />
547 Autosomal recessive sp<strong>as</strong>tic ataxia 4<br />
548 Axenfeld-Rieger syndrome<br />
549 Axenfeld-Rieger syndrome type 1<br />
550 Axenfeld-Rieger syndrome type 2<br />
551 Axenfeld-Rieger syndrome type 3<br />
552 Axial mesodermal dyspl<strong>as</strong>ia spectrum<br />
553 Axial osteomalacia<br />
554 Axial osteosclerosis<br />
555 Axial spondylometaphyseal dyspl<strong>as</strong>ia<br />
556 Ayazi syndrome<br />
557 B cell prolymphocytic leukemia<br />
558 Babesiosis<br />
559 Baby rattle pelvic dyspl<strong>as</strong>ia<br />
560 Bacterial meningitis<br />
561 Baetz-Greenwalt syndrome<br />
562 Bagatelle C<strong>as</strong>sidy syndrome<br />
563 Baker Vinters syndrome<br />
564 Balantidi<strong>as</strong>is<br />
565 Balkan endemic nephropathy<br />
566 Baller-Gerold syndrome<br />
567 Balo dise<strong>as</strong>e<br />
568 Balo's concentric sclerosis<br />
569 Bamforth syndrome<br />
570 BANF acoustic neurinoma<br />
571 Banki syndrome<br />
572 Bannayan-Riley-Ruvalcaba syndrome<br />
573 Banti's syndrome<br />
574 Bantu siderosis<br />
575 Baraitser Brett Piesowicz syndrome<br />
576 Baraitser Rodeck Garner syndrome<br />
577 Barakat syndrome<br />
578 Barber Say syndrome<br />
579 Bardet-Biedl syndrome<br />
580 Bardet-Biedl syndrome 1
581 Bardet-Biedl syndrome 10<br />
582 Bardet-Biedl syndrome 11<br />
583 Bardet-Biedl syndrome 12<br />
584 Bardet-Biedl syndrome 2<br />
585 Bardet-Biedl syndrome 3<br />
586 Bardet-Biedl syndrome 4<br />
587 Bardet-Biedl syndrome 5<br />
588 Bardet-Biedl syndrome 6<br />
589 Bardet-Biedl syndrome 7<br />
590 Bardet-Biedl syndrome 8<br />
591 Bardet-Biedl syndrome 9<br />
592 Bare lymphocyte syndrome<br />
593 Bare lymphocyte syndrome 2<br />
594 Baritosis<br />
595 Barnicoat Baraitser syndrome<br />
596 Baroreflex failure<br />
597 Barraquer-Simons syndrome<br />
598 Barth syndrome<br />
599 Bartter syndrome<br />
600 Bartter syndrome antenatal type 1<br />
601 Bartter syndrome antenatal type 2<br />
602 Bartter syndrome type 3<br />
603 Bartter syndrome type 4<br />
604 B<strong>as</strong>al cell carcinoma, infundibulocystic<br />
605 B<strong>as</strong>al cell carcinoma, multiple<br />
606 B<strong>as</strong>al cell nevus anodontia abnormal bone mineralization<br />
607 B<strong>as</strong>al ganglia dise<strong>as</strong>e, biotin-responsive<br />
608 B<strong>as</strong>aloid follicular hamartoma<br />
609 B<strong>as</strong>an syndrome<br />
610 B<strong>as</strong>aran Yilmaz syndrome<br />
611 B<strong>as</strong>edow's coma<br />
612 B<strong>as</strong>ilar migraine<br />
613 B<strong>as</strong>soe syndrome<br />
614 Battaglia Neri syndrome<br />
615 Batten dise<strong>as</strong>e<br />
616 Bazex-Dupre-Christol syndrome<br />
617 Bazopoulou-Kyrkanidou syndrome<br />
618 B-cell lymphom<strong>as</strong><br />
619 Bd syndrome<br />
620 Beardwell syndrome
621 Becker muscular dystrophy<br />
622 Becker nevus syndrome<br />
623 Becker's nevus<br />
624 Beckwith-Wiedemann syndrome<br />
625 Bednar's tumor<br />
626 Beemer Ertbruggen syndrome<br />
627 Behcet's dise<strong>as</strong>e<br />
628 Behr syndrome<br />
629 Bejel<br />
630 Bell's palsy<br />
631 Ben Ari Shu<strong>per</strong> Mimouni syndrome<br />
632 Benallegue Lacete syndrome<br />
633 Benign angiitis <strong>of</strong> the central nervous system<br />
634 Benign autosomal dominant myopathy<br />
635 Benign eccrine spiradenoma<br />
636 Benign familial infantile epilepsy<br />
637 Benign familial neonatal-infantile seizures<br />
638 Benign hy<strong>per</strong>phenylalaninemia<br />
639 Benign met<strong>as</strong>t<strong>as</strong>izing leiomyoma<br />
640 Benign multicystic <strong>per</strong>itoneal mesothelioma<br />
641 Benign paroxysmal positional vertigo<br />
642 Benign recurrent intrahepatic cholest<strong>as</strong>is 1<br />
643 Benign recurrent intrahepatic cholest<strong>as</strong>is 2<br />
644 Benign rol<strong>and</strong>ic epilepsy (BRE)<br />
645 Bent bone dyspl<strong>as</strong>ia syndrome<br />
646 Berger dise<strong>as</strong>e<br />
647 Beriberi<br />
648 Berk-Tabatznik syndrome<br />
649 Berry aneurysm, cirrhosis, pulmonary emphysema, <strong>and</strong> cerebral<br />
calcification<br />
650 Berylliosis<br />
651 Best vitelliform macular dystrophy<br />
652 Best1 retinopathy<br />
653 Beta ketothiol<strong>as</strong>e deficiency<br />
654 Beta-galactosid<strong>as</strong>e-1 deficiency<br />
655 Beta-sarcoglycanopathy<br />
656 Beta-thal<strong>as</strong>semia<br />
657 Bethlem myopathy<br />
658 Beukes familial hip dyspl<strong>as</strong>ia<br />
659 Bh<strong>as</strong>kar Jagannathan syndrome
660 Bidirectional tachycardia<br />
661 Biemond syndrome<br />
662 Biemond syndrome 2<br />
663 Biemond syndrome type 1<br />
664 Biermer dise<strong>as</strong>e<br />
665 Bietti crystalline corneoretinal dystrophy<br />
666 Bifid nose<br />
667 Bifid nose with or without anorectal <strong>and</strong> renal anomalies<br />
668 Bilateral frontal polymicrogyria<br />
669 Bilateral frontoparietal polymicrogyria<br />
670 Bilateral generalized polymicrogyria<br />
671 Bilateral par<strong>as</strong>agittal parieto-occipital polymicrogyria<br />
672 Bilateral <strong>per</strong>isylvian polymicrogyria<br />
673 Bilateral renal agenesis dominant type<br />
674 Bile acid synthesis defect, congenital, 1<br />
675 Bile acid synthesis defect, congenital, 2<br />
676 Bile acid synthesis defect, congenital, 4<br />
677 Bile duct cancer<br />
678 Bile duct cysts<br />
679 Biliary atresia extrahepatic<br />
680 Biliary atresia intrahepatic non syndromic form<br />
681 Biliary atresia intrahepatic syndromic form<br />
682 Biliary hypopl<strong>as</strong>ia<br />
683 Biliary tract cancer<br />
684 Bilirubin induced brain injury in the newborn<br />
685 Billet Bear syndrome<br />
686 Binswanger's dise<strong>as</strong>e<br />
687 Biotinid<strong>as</strong>e deficiency<br />
688 Bird headed dwarfism Montreal type<br />
689 Bird-headed dwarfism with progressive ataxia, insulin-resistant<br />
diabetes, goiter <strong>and</strong> primary gonadal insufficiency<br />
690 Birdshot chorioretinopathy<br />
691 Birk Barel mental retardation dysmorphism syndrome<br />
692 Birt-Hogg-Dube syndrome<br />
693 Bixler Christian Gorlin syndrome<br />
694 Bjornstad syndrome<br />
695 BK-virus nephropathy<br />
696 Bladder cancer, childhood<br />
697 Blaichman syndrome<br />
698 Bl<strong>as</strong>tic pl<strong>as</strong>macytoid dendritic cell
699 Bl<strong>as</strong>toma<br />
700 Bl<strong>as</strong>tomycosis<br />
701 Blau syndrome<br />
702 Blepharo n<strong>as</strong>o facial syndrome Van maldergem type<br />
703 Blephar<strong>of</strong>acioskeletal syndrome<br />
704 Blepharon<strong>as</strong><strong>of</strong>acial malformation syndrome<br />
705 Blepharophimosis<br />
706 Blepharophimosis intellectual disability syndromes<br />
707 Blepharophimosis with ptosis, syndactyly, <strong>and</strong> short stature<br />
708 Blepharophimosis, ptosis, <strong>and</strong> epicanthus inversus syndrome type<br />
1<br />
709 Blepharophimosis, ptosis, <strong>and</strong> epicanthus inversus syndrome type<br />
2<br />
710 Blepharoptosis myopia ectopia lentis<br />
711 Blepharosp<strong>as</strong>m<br />
712 Bloom syndrome<br />
713 Blount dise<strong>as</strong>e<br />
714 Blue cone monochromatism<br />
715 Blue dia<strong>per</strong> syndrome<br />
716 Blue rubber bleb nevus syndrome<br />
717 Bobble-head doll syndrome<br />
718 BOD syndrome<br />
719 Boerhaave syndrome<br />
720 Bone cancer<br />
721 Bone dyspl<strong>as</strong>ia Azouz type<br />
722 Bone dyspl<strong>as</strong>ia corpus callosum agenesis<br />
723 Bone dyspl<strong>as</strong>ia lethal Holmgren type<br />
724 Bone dyspl<strong>as</strong>ia Moore type<br />
725 Book syndrome<br />
726 Boomerang dyspl<strong>as</strong>ia<br />
727 BOR-Duane hydrocephalus contiguous gene syndrome<br />
728 Borjeson-Forssman-Lehmann syndrome<br />
729 Bork Stender Schmidt syndrome<br />
730 Borrone Di Rocco Crovato syndrome<br />
731 Bothriocephalosis<br />
732 Botulism<br />
733 Boucher Neuhauser syndrome<br />
734 Boudhina Yedes Khiari syndrome<br />
735 Bourneville syndrome<br />
736 Bow hunter's stroke
737 Bowen syndrome<br />
738 Bowen-Conradi syndrome<br />
739 Bowenoid papulosis<br />
740 Bowen's dise<strong>as</strong>e<br />
741 Bowing <strong>of</strong> legs, anterior with dwarfism<br />
742 Bowing <strong>of</strong> long bones congenital<br />
743 Boylan Dew Greco syndrome<br />
744 Brachial amelia, forebrain defects <strong>and</strong> facial clefts<br />
745 Brachioskeletogenital syndrome<br />
746 Brachycephal<strong>of</strong>ronton<strong>as</strong>al dyspl<strong>as</strong>ia<br />
747 Brachydactylous dwarfism Mseleni type<br />
748 Brachydactyly absence <strong>of</strong> distal phalanges<br />
749 Brachydactyly anonychia<br />
750 Brachydactyly dwarfism mental retardation<br />
751 Brachydactyly elbow wrist dyspl<strong>as</strong>ia<br />
752 Brachydactyly long thumb type<br />
753 Brachydactyly mesomelia mental retardation heart defects<br />
754 Brachydactyly Mononen type<br />
755 Brachydactyly preaxial with hallux varus <strong>and</strong> thumb abduction<br />
756 Brachydactyly small stature face anomalies<br />
757 Brachydactyly tibial hypopl<strong>as</strong>ia<br />
758 Brachydactyly type A1<br />
759 Brachydactyly type A2<br />
760 Brachydactyly type A3<br />
761 Brachydactyly type A4<br />
762 Brachydactyly type A5<br />
763 Brachydactyly type A6<br />
764 Brachydactyly type A7<br />
765 Brachydactyly type B<br />
766 Brachydactyly type C<br />
767 Brachydactyly type E<br />
768 Brachydactyly types B <strong>and</strong> E combined<br />
769 Brachydactyly with hy<strong>per</strong>tension<br />
770 Brachymesomelia renal syndrome<br />
771 Brachymesophalangy type 2<br />
772 Brachymetapody anodontia hypotrichosis albinoidism<br />
773 Brachyolmia<br />
774 Brachyolmia type 1 Hobaek type<br />
775 Brachyolmia type 3<br />
776 Brachyphalangy, polydactyly, <strong>and</strong> tibial apl<strong>as</strong>ia/hypopl<strong>as</strong>ia
777 Braddock Jones Su<strong>per</strong>neau syndrome<br />
778 Brain stem cancer<br />
779 Brain stem glioma, childhood<br />
780 Brain tumor, adult<br />
781 Brain tumor, childhood<br />
782 Branchial arch defects<br />
783 Branchial arch syndrome X-linked<br />
784 Branchioocul<strong>of</strong>acial syndrome<br />
785 Branchiootic syndrome<br />
786 Branchiootorenal syndrome<br />
787 Bre<strong>as</strong>t cancer, childhood<br />
788 Bre<strong>as</strong>t cancer, male<br />
789 Brenner tumor <strong>of</strong> ovary<br />
790 Brenner tumor <strong>of</strong> the vagina<br />
791 Brittle bone syndrome lethal type<br />
792 Brittle cornea syndrome<br />
793 Brody myopathy<br />
794 Bronchial adenom<strong>as</strong>/carcinoids childhood<br />
795 Bronchiect<strong>as</strong>is oligos<strong>per</strong>mia<br />
796 Bronchiolitis obliterans<br />
797 Bronchiolitis obliterans organizing pneumonia<br />
798 Bronchogenic cyst<br />
799 Bronchopulmonary dyspl<strong>as</strong>ia<br />
800 Brooke-Spiegler syndrome<br />
801 Brooks Wisniewski Brown syndrome<br />
802 Brown syndrome<br />
803 Brown-Sequard syndrome<br />
804 Brown-Vialetto-Van Laere syndrome<br />
805 Brucellosis<br />
806 Bruck syndrome 1<br />
807 Bruck syndrome 2<br />
808 Brugada syndrome<br />
809 Brugada syndrome 3<br />
810 Brugada syndrome 4<br />
811 Brunoni syndrome<br />
812 Brunsting-Perry syndrome<br />
813 Bruyn Scheltens syndrome<br />
814 Bubonic plague<br />
815 Budd-Chiari syndrome<br />
816 Buerger dise<strong>as</strong>e
817 Bullous dystrophy hereditary macular type<br />
818 Bullous pemphigoid<br />
819 Burkitt lymphoma<br />
820 Burn Goodship syndrome<br />
821 Burnett Schwartz Berberian syndrome<br />
822 Burning mouth syndrome type 3<br />
823 Burn-Mckeown syndrome<br />
824 Buruli ulcer<br />
825 Buschke Lowenstein tumor<br />
826 Buschke Ollendorff syndrome<br />
827 Bustos Simosa Pinto Cistern<strong>as</strong> syndrome<br />
828 Byssinosis<br />
829 C syndrome<br />
830 CADASIL<br />
831 Cafe au lait spots, multiple<br />
832 Caffey dise<strong>as</strong>e<br />
833 CAHMR syndrome<br />
834 Calabro syndrome<br />
835 Calcifying Epithelial Odontogenic Tumor<br />
836 Calciphylaxis<br />
837 California encephalitis<br />
838 Calloso-genital dyspl<strong>as</strong>ia<br />
839 Calvarial hy<strong>per</strong>ostosis<br />
840 Camera Marugo Cohen syndrome<br />
841 Campomelia Cumming type<br />
842 Campomelic dyspl<strong>as</strong>ia<br />
843 Camptobrachydactyly<br />
844 Camptocormism<br />
845 Camptodactyly arthropathy coxa vara <strong>per</strong>icarditis syndrome<br />
846 Camptodactyly joint contractures <strong>and</strong> facial skeletal dyspl<strong>as</strong>ia<br />
847 Camptodactyly syndrome Guadalajara type 1<br />
848 Camptodactyly syndrome Guadalajara type 2<br />
849 Camptodactyly syndrome Guadalajara type 3<br />
850 Camptodactyly taurinuria<br />
851 Camptodactyly vertebral fusion<br />
852 Camptodactyly, fibrous tissue hy<strong>per</strong>pl<strong>as</strong>ia, <strong>and</strong> skeletal dyspl<strong>as</strong>ia<br />
853 Camptodactyly, tall stature, <strong>and</strong> hearing loss syndrome<br />
854 Camptodactyly-ichthyosis syndrome<br />
855 Camptomelic syndrome long limb type<br />
856 Camurati Engelmann dise<strong>as</strong>e, type 2
857 Camurati-Engelmann dise<strong>as</strong>e<br />
858 Canavan dise<strong>as</strong>e<br />
859 C<strong>and</strong>ida glabrata<br />
860 C<strong>and</strong>idi<strong>as</strong>is familial chronic mucocutaneous, autosomal recessive<br />
861 CANOMAD syndrome<br />
862 Cantalamessa Baldini Ambrosi syndrome<br />
863 Cantu Sanchez-Corona Fragoso syndrome<br />
864 Cantu Sanchez-Corona Garcia-Cruz syndrome<br />
865 Cantu Sanchez-Corona Hern<strong>and</strong>ez syndrome<br />
866 Cantu syndrome<br />
867 Capillary hemangiobl<strong>as</strong>toma<br />
868 Carbamoyl phosphate synthet<strong>as</strong>e 1 deficiency<br />
869 Carbon baby syndrome<br />
870 Carcinoid syndrome<br />
871 Carcinoid tumor<br />
872 Carcinoid tumor childhood<br />
873 Carcinoma <strong>of</strong> the vocal tract<br />
874 Carcinoma <strong>of</strong> unknown primary site, childhood<br />
875 Cardiac diverticulum<br />
876 Cardiac hydatid cysts with intracavitary expansion<br />
877 Cardiac rupture<br />
878 Cardiac valvular dyspl<strong>as</strong>ia, X-linked<br />
879 Cardioauditory syndrome <strong>of</strong> Sanchez C<strong>as</strong>cos<br />
880 Cardiocranial syndrome<br />
881 Cardioencephalomyopathy<br />
882 Cardi<strong>of</strong>acial syndrome short limbs<br />
883 Cardi<strong>of</strong>aciocutaneous syndrome<br />
884 Cardiomelic syndrome Stratton Koehler type<br />
885 Cardiomyopathy <strong>and</strong> deafness due to tRNA lysine gene mutation<br />
886 Cardiomyopathy cataract hip spine dise<strong>as</strong>e<br />
887 Cardiomyopathy diabetes deafness<br />
888 Cardiomyopathy dilated with conduction defect type 1<br />
889 Cardiomyopathy dilated with conduction defect type 2<br />
890 Cardiomyopathy dilated with woolly hair <strong>and</strong> keratoderma<br />
891 Cardiomyopathy due to anthracyclines<br />
892 Cardiomyopathy hypogonadism collagenoma syndrome<br />
893 Cardiomyopathy hypogonadism metabolic anomalies<br />
894 Cardiomyopathy spherocytosis<br />
895 Cardiomyopathy, fatal fetal, due to myocardial calcification<br />
896 Cardioskeletal syndrome Kuwaiti type
897 Cardiosp<strong>as</strong>m<br />
898 Carnevale Hern<strong>and</strong>ez C<strong>as</strong>tillo syndrome<br />
899 Carnevale syndrome<br />
900 Carney complex<br />
901 Carney triad<br />
902 Carnitine palmitoyl transfer<strong>as</strong>e 1 deficiency<br />
903 Carnitine palmitoyltransfer<strong>as</strong>e 2 deficiency<br />
904 Carnitine palmitoyltransfer<strong>as</strong>e I deficiency , muscle<br />
905 Carnitine-acylcarnitine transloc<strong>as</strong>e deficiency<br />
906 Carnosinemia<br />
907 Caroli dise<strong>as</strong>e<br />
908 Carotid body tumor<br />
909 Carpal deformity migrognathia microstomia<br />
910 Carpenter syndrome<br />
911 Carpo tarsal osteolysis recessive<br />
912 Carpotarsal osteochondromatosis<br />
913 Carrington syndrome<br />
914 Cartilage-hair hypopl<strong>as</strong>ia<br />
915 Cartilaginous cancer<br />
916 Cartwright Nelson Fryns syndrome<br />
917 C<strong>as</strong>p<strong>as</strong>e-8 deficiency<br />
918 C<strong>as</strong>savism<br />
919 C<strong>as</strong>tleman's dise<strong>as</strong>e<br />
920 Cat Eye syndrome<br />
921 Cat scratch dise<strong>as</strong>e<br />
922 Catamenial pneumothorax<br />
923 Cataract <strong>and</strong> cardiomyopathy<br />
924 Cataract <strong>and</strong> congenital ichthyosis<br />
925 Cataract anterior polar dominant<br />
926 Cataract ataxia deafness<br />
927 Cataract congenital autosomal dominant<br />
928 Cataract congenital dominant non nuclear<br />
929 Cataract congenital Volkmann type<br />
930 Cataract Hutterite type<br />
931 Cataract hy<strong>per</strong>trichosis mental retardation<br />
932 Cataract mental retardation hypogonadism<br />
933 Cataract microcornea syndrome<br />
934 Cataract microphthalmia septal defect<br />
935 Cataract skeletal anomalies<br />
936 Cataract, alopecia, sclerodactyly
937 Cataract, autosomal recessive congenital 2<br />
938 Cataract, congenital, with microcornea or slight microphthalmia<br />
939 Cataract, microphthalmia <strong>and</strong> nystagmus<br />
940 Cataract, posterior polar, 1<br />
941 Cataract, posterior polar, 3<br />
942 Cataract, posterior polar, 4<br />
943 Cataract, posterior polar, 5<br />
944 Cataract, total congenital<br />
945 Cataract, zonular<br />
946 Cataract-glaucoma<br />
947 Cataract-microcephaly-failure to thrive-kyphoscoliosis<br />
948 Cataracts, ataxia, short stature, <strong>and</strong> mental retardation<br />
949 Cat<strong>as</strong>trophic antiphospholipid syndrome<br />
950 Catatrichy<br />
951 Catecholaminergic polymorphic ventricular tachycardia<br />
952 Catel Manzke syndrome<br />
953 Cauda equina syndrome<br />
954 Caudal appendage deafness<br />
955 Caudal duplication<br />
956 Caudal regression syndrome<br />
957 Cavernous lymphangioma<br />
958 Ccge syndrome<br />
959 CD3 deficiency<br />
960 CD4 deficiency<br />
961 CDG syndrome type 3<br />
962 CDG syndrome type 4<br />
963 CDK4 linked melanoma<br />
964 Cennamo Gangemi syndrome<br />
965 Central centrifugal cicatricial alopecia<br />
966 Central core dise<strong>as</strong>e<br />
967 Central nervous system lymphoma, primary<br />
968 Central neurocytoma<br />
969 Central post-stroke pain<br />
970 Central serous chorioretinopathy<br />
971 Cercarial Dermatitis<br />
972 Cerebellar agenesis<br />
973 Cerebellar <strong>as</strong>trocytoma, childhood<br />
974 Cerebellar ataxia <strong>and</strong> hypogonadotropic hypogonadism<br />
975 Cerebellar ataxia ectodermal dyspl<strong>as</strong>ia
976 Cerebellar ataxia infantile with progressive external<br />
ophthalmoplegia<br />
977 Cerebellar ataxia, areflexia, pes cavus, optic atrophy <strong>and</strong><br />
sensorinural hearing loss<br />
978 Cerebellar degeneration<br />
979 Cerebellar degeneration, subacute<br />
980 Cerebellar hypopl<strong>as</strong>ia<br />
981 Cerebellar hypopl<strong>as</strong>ia tapetoretinal degeneration<br />
982 Cerebellar hypopl<strong>as</strong>ia with endosteal sclerosis<br />
983 Cerebellar liponeurocytoma<br />
984 Cerebello-olivary atrophy<br />
985 Cerebelloparenchymal disorder 3<br />
986 Cerebellum agenesis hydrocephaly<br />
987 Cerebral <strong>as</strong>trocytoma, childhood<br />
988 Cerebral autosomal recessive arteriopathy with subcortical<br />
infarcts <strong>and</strong> leukoencephalopathy<br />
989 Cerebral calcification cerebellar hypopl<strong>as</strong>ia<br />
990 Cerebral calcifications opalescent teeth phosphaturia<br />
991 Cerebral cavernous malformation<br />
992 Cerebral dysgenesis, neuropathy, ichthyosis, <strong>and</strong> palmoplantar<br />
keratoderma syndrome<br />
993 Cerebral folate deficiency<br />
994 Cerebral gigantism jaw cysts<br />
995 Cerebral palsy ataxic<br />
996 Cerebral palsy athetoid<br />
997 Cerebral palsy mixed<br />
998 Cerebral palsy sp<strong>as</strong>tic diplegic<br />
999 Cerebral palsy sp<strong>as</strong>tic hemiplegic<br />
1000 Cerebral palsy sp<strong>as</strong>tic monoplegic<br />
1001 Cerebral palsy sp<strong>as</strong>tic quadriplegic<br />
1002 Cerebral sarcoma<br />
1003 Cerebral sclerosis similar to Pelizaeus-Merzbacher dise<strong>as</strong>e<br />
1004 Cerebral ventricle cancer<br />
1005 Cerebro facio thoracic dyspl<strong>as</strong>ia<br />
1006 Cerebro-costo-m<strong>and</strong>ibular syndrome<br />
1007 Cerebrocostom<strong>and</strong>ibular-like syndrome<br />
1008 Cerebro-oculo-facio-skeletal syndrome<br />
1009 Cerebrospinal fluid leak<br />
1010 Cerebrotendinous xanthomatosis<br />
1011 Ceroid lip<strong>of</strong>uscinosis neuronal 1
1012 Ceroid lip<strong>of</strong>uscinosis neuronal 10<br />
1013 Ceroid lip<strong>of</strong>uscinosis neuronal 2<br />
1014 Ceroid lip<strong>of</strong>uscinosis neuronal 5<br />
1015 Ceroid lip<strong>of</strong>uscinosis neuronal 6<br />
1016 Ceroid lip<strong>of</strong>uscinosis neuronal 7<br />
1017 Ceroid lip<strong>of</strong>uscinosis neuronal 8<br />
1018 Ceroid lip<strong>of</strong>uscinosis neuronal 9<br />
1019 Ceroid storage dise<strong>as</strong>e<br />
1020 Cerulean cataract<br />
1021 Cervical dystonia<br />
1022 Cervical hy<strong>per</strong>trichosis <strong>per</strong>ipheral neuropathy<br />
1023 Cervical intraepithelial neopl<strong>as</strong>ia<br />
1024 Cervical ribs, Sprengel anomaly, anal atresia, <strong>and</strong> urethral<br />
obstruction<br />
1025 Chag<strong>as</strong> dise<strong>as</strong>e<br />
1026 Chanarin-Dorfman syndrome<br />
1027 Chancroid<br />
1028 CHAND syndrome<br />
1029 Ch<strong>and</strong>ler's syndrome<br />
1030 Chang Davidson Carlson syndrome<br />
1031 Chaotic atrial tachycardia<br />
1032 Char syndrome<br />
1033 Charcot-Marie-Tooth dise<strong>as</strong>e<br />
1034 Charcot-Marie-Tooth dise<strong>as</strong>e deafness recessive type<br />
1035 Charcot-Marie-Tooth dise<strong>as</strong>e dominant intermediate 1<br />
1036 Charcot-Marie-Tooth dise<strong>as</strong>e dominant intermediate 2<br />
1037 Charcot-Marie-Tooth dise<strong>as</strong>e dominant intermediate 3<br />
1038 Charcot-Marie-Tooth dise<strong>as</strong>e neuronal type A<br />
1039 Charcot-Marie-Tooth dise<strong>as</strong>e neuronal type B<br />
1040 Charcot-Marie-Tooth dise<strong>as</strong>e neuronal type D<br />
1041 Charcot-Marie-Tooth dise<strong>as</strong>e type 1A<br />
1042 Charcot-Marie-Tooth dise<strong>as</strong>e type 1B<br />
1043 Charcot-Marie-Tooth dise<strong>as</strong>e type 1C<br />
1044 Charcot-Marie-Tooth dise<strong>as</strong>e type 1D<br />
1045 Charcot-Marie-Tooth dise<strong>as</strong>e type 1E<br />
1046 Charcot-Marie-Tooth dise<strong>as</strong>e type 1F<br />
1047 Charcot-Marie-Tooth dise<strong>as</strong>e type 2A<br />
1048 Charcot-Marie-Tooth dise<strong>as</strong>e type 2B<br />
1049 Charcot-Marie-Tooth dise<strong>as</strong>e type 2B1<br />
1050 Charcot-Marie-Tooth dise<strong>as</strong>e type 2B2
1051 Charcot-Marie-Tooth dise<strong>as</strong>e type 2C<br />
1052 Charcot-Marie-Tooth dise<strong>as</strong>e type 2D<br />
1053 Charcot-Marie-Tooth dise<strong>as</strong>e type 2E<br />
1054 Charcot-Marie-Tooth dise<strong>as</strong>e type 2F<br />
1055 Charcot-Marie-Tooth dise<strong>as</strong>e type 2G<br />
1056 Charcot-Marie-Tooth dise<strong>as</strong>e type 2H<br />
1057 Charcot-Marie-Tooth dise<strong>as</strong>e type 2I<br />
1058 Charcot-Marie-Tooth dise<strong>as</strong>e type 2J<br />
1059 Charcot-Marie-Tooth dise<strong>as</strong>e type 2K<br />
1060 Charcot-Marie-Tooth dise<strong>as</strong>e type 4A<br />
1061 Charcot-Marie-Tooth dise<strong>as</strong>e type 4B1<br />
1062 Charcot-Marie-Tooth dise<strong>as</strong>e type 4B2<br />
1063 Charcot-Marie-Tooth dise<strong>as</strong>e type 4B2 with early-onset glaucoma<br />
1064 Charcot-Marie-Tooth dise<strong>as</strong>e type 4C<br />
1065 Charcot-Marie-Tooth dise<strong>as</strong>e type 4E<br />
1066 Charcot-Marie-Tooth dise<strong>as</strong>e with ptosis <strong>and</strong> parkinsonism<br />
1067 Charcot-Marie-Tooth dise<strong>as</strong>e with pyramidal features, autosomal<br />
dominant<br />
1068 Charcot-Marie-Tooth dise<strong>as</strong>e X-linked 1<br />
1069 Charcot-Marie-Tooth dise<strong>as</strong>e X-linked recessive 2<br />
1070 Charcot-Marie-Tooth dise<strong>as</strong>e X-linked recessive 3<br />
1071 Charcot-Marie-Tooth type 1 apl<strong>as</strong>ia cutis congenita<br />
1072 CHARGE syndrome<br />
1073 Charles Bonnet syndrome<br />
1074 Charlie M syndrome<br />
1075 Chediak-Hig<strong>as</strong>hi syndrome<br />
1076 Cheilitis gl<strong>and</strong>ularis<br />
1077 Cherubism<br />
1078 Chester porphyria<br />
1079 Chiari malformation type 2<br />
1080 Chiari malformation type 3<br />
1081 Chiari malformation type 4<br />
1082 Chiari-Frommel syndrome<br />
1083 Chikungunya<br />
1084 Chilaiditi syndrome<br />
1085 CHILD syndrome<br />
1086 Childhood disintegrative disorder<br />
1087 Childhood-onset cerebral X-linked adrenoleukodystrophy<br />
1088 Childhood-Onset Schizophrenia<br />
1089 Children's interstitial lung dise<strong>as</strong>e
1090 Chitayat Meunier Hodgkinson syndrome<br />
1091 Chitty Hall Webb syndrome<br />
1092 Cholecystitis<br />
1093 Cholera<br />
1094 Cholest<strong>as</strong>is, progressive familial intrahepatic 1<br />
1095 Cholest<strong>as</strong>is, progressive familial intrahepatic 2<br />
1096 Cholest<strong>as</strong>is, progressive familial intrahepatic 3<br />
1097 Cholest<strong>as</strong>is, progressive familial intrahepatic 4<br />
1098 Cholesteatoma<br />
1099 Cholesterol pneumonia<br />
1100 Chondrobl<strong>as</strong>toma<br />
1101 Chondrocalcinosis 1<br />
1102 Chondrocalcinosis 2<br />
1103 Chondrocalcinosis due to apatite crystal deposition<br />
1104 Chondrodyspl<strong>as</strong>ia<br />
1105 Chondrodyspl<strong>as</strong>ia acromesomelic with genital anomalies<br />
1106 Chondrodyspl<strong>as</strong>ia Blomstr<strong>and</strong> type<br />
1107 Chondrodyspl<strong>as</strong>ia calcificans metaphysealis<br />
1108 Chondrodyspl<strong>as</strong>ia lethal recessive<br />
1109 Chondrodyspl<strong>as</strong>ia punctata 1, X-linked recessive<br />
1110 Chondrodyspl<strong>as</strong>ia punctata 2 X-linked dominant<br />
1111 Chondrodyspl<strong>as</strong>ia punctata Sheffield type<br />
1112 Chondrodyspl<strong>as</strong>ia punctata syndrome<br />
1113 Chondrodyspl<strong>as</strong>ia punctata with steroid sulfat<strong>as</strong>e deficiency<br />
1114 Chondrodyspl<strong>as</strong>ia punctata, humero-metacarpal type<br />
1115 Chondrodyspl<strong>as</strong>ia situs inversus im<strong>per</strong>forate anus polydactyly<br />
1116 Chondrodyspl<strong>as</strong>ia, Grebe type<br />
1117 Chondrodystrophy<br />
1118 Chondroma<br />
1119 Chondrosarcoma<br />
1120 Chordoid glioma <strong>of</strong> the third ventricle<br />
1121 Chordoma<br />
1122 Chorea familial benign<br />
1123 Chorea minor<br />
1124 Chorea, remitting with nystagmus <strong>and</strong> cataracts<br />
1125 Choreoacanthocytosis<br />
1126 Choreoacanthocytosis amyotrophic<br />
1127 Choriocarcinoma<br />
1128 Chorioretinitis<br />
1129 Chorioretinopathy dominant form microcephaly
1130 Choroid plexus calcification with mental retardation<br />
1131 Choroid plexus carcinoma<br />
1132 Choroid plexus cyst<br />
1133 Choroid plexus papilloma<br />
1134 Choroidal dystrophy central areolar<br />
1135 Choroideremia<br />
1136 Choroideremia hypopituitarism<br />
1137 Choroiditis<br />
1138 Christian Demyer Franken syndrome<br />
1139 Christian Johnson Angenieta syndrome<br />
1140 Christianson syndrome<br />
1141 Chromhidrosis<br />
1142 Chromomycosis<br />
1143 Chromophil renal cell carcinoma<br />
1144 Chromophobe renal cell carcinoma<br />
1145 Chromosomal triplication<br />
1146 Chromosome 1, uniparental disomy 1q12 q21<br />
1147 Chromosome 10, uniparental disomy<br />
1148 Chromosome 10p deletion<br />
1149 Chromosome 10p duplication<br />
1150 Chromosome 10q deletion<br />
1151 Chromosome 10q duplication<br />
1152 Chromosome 11p deletion<br />
1153 Chromosome 11p duplication<br />
1154 Chromosome 11q deletion<br />
1155 Chromosome 11q duplication<br />
1156 Chromosome 12p deletion<br />
1157 Chromosome 12p duplication<br />
1158 Chromosome 12q deletion<br />
1159 Chromosome 12q duplication<br />
1160 Chromosome 13q deletion<br />
1161 Chromosome 13q duplication<br />
1162 Chromosome 14q deletion<br />
1163 Chromosome 14q duplication<br />
1164 Chromosome 15, trisomy mosaicism<br />
1165 Chromosome 15q deletion<br />
1166 Chromosome 15q duplication<br />
1167 Chromosome 15q25.2 deletion<br />
1168 Chromosome 16 trisomy<br />
1169 Chromosome 16, uniparental disomy
1170 Chromosome 16p deletion<br />
1171 Chromosome 16p duplication<br />
1172 Chromosome 16p13.3 deletion syndrome<br />
1173 Chromosome 16p13.3 duplication<br />
1174 Chromosome 16q deletion<br />
1175 Chromosome 16q duplication<br />
1176 Chromosome 17p deletion<br />
1177 Chromosome 17p duplication<br />
1178 Chromosome 17p13.1 deletion syndrome<br />
1179 Chromosome 17q deletion<br />
1180 Chromosome 17q duplication<br />
1181 Chromosome 18p deletion syndrome<br />
1182 Chromosome 18p duplication<br />
1183 Chromosome 18p tetr<strong>as</strong>omy<br />
1184 Chromosome 18q duplication<br />
1185 Chromosome 19p deletion<br />
1186 Chromosome 19p duplication<br />
1187 Chromosome 19q deletion<br />
1188 Chromosome 19q duplication<br />
1189 Chromosome 19q13.11 deletion syndrome<br />
1190 Chromosome 1p deletion<br />
1191 Chromosome 1p duplication<br />
1192 Chromosome 1p36 deletion syndrome<br />
1193 Chromosome 1q deletion<br />
1194 Chromosome 1q duplication<br />
1195 Chromosome 1q21.1 duplication syndrome<br />
1196 Chromosome 1q41-q42 deletion syndrome<br />
1197 Chromosome 20 trisomy<br />
1198 Chromosome 20p deletion<br />
1199 Chromosome 20p duplication<br />
1200 Chromosome 20q deletion<br />
1201 Chromosome 20q duplication<br />
1202 Chromosome 21, uniparental disomy<br />
1203 Chromosome 21q deletion<br />
1204 Chromosome 21q duplication<br />
1205 Chromosome 22q deletion<br />
1206 Chromosome 22q duplication<br />
1207 Chromosome 2p deletion<br />
1208 Chromosome 2p duplication<br />
1209 Chromosome 2q deletion
1210 Chromosome 2q duplication<br />
1211 Chromosome 2q24 microdeletion syndrome<br />
1212 Chromosome 3, trisomy 3q<br />
1213 Chromosome 3p deletion<br />
1214 Chromosome 3p duplication<br />
1215 Chromosome 3q deletion<br />
1216 Chromosome 3q29 microduplication syndrome<br />
1217 Chromosome 4p deletion<br />
1218 Chromosome 4p duplication<br />
1219 Chromosome 4q deletion<br />
1220 Chromosome 4q duplication<br />
1221 Chromosome 5, uniparental disomy<br />
1222 Chromosome 5p deletion<br />
1223 Chromosome 5p duplication<br />
1224 Chromosome 5q deletion<br />
1225 Chromosome 5q duplication<br />
1226 Chromosome 6p deletion<br />
1227 Chromosome 6p duplication<br />
1228 Chromosome 6q deletion<br />
1229 Chromosome 6q duplication<br />
1230 Chromosome 6q25 microdeletion syndrome<br />
1231 Chromosome 7p deletion<br />
1232 Chromosome 7p duplication<br />
1233 Chromosome 7q deletion<br />
1234 Chromosome 7q duplication<br />
1235 Chromosome 8p deletion<br />
1236 Chromosome 8p duplication<br />
1237 Chromosome 8p23.1 deletion<br />
1238 Chromosome 8q deletion<br />
1239 Chromosome 8q duplication<br />
1240 Chromosome 9p deletion<br />
1241 Chromosome 9p duplication<br />
1242 Chromosome 9q deletion<br />
1243 Chromosome 9q duplication<br />
1244 Chromosome Xp deletion<br />
1245 Chromosome Xp22 deletion syndrome<br />
1246 Chromosome Xq duplication<br />
1247 Chromosome Xq28 deletion syndrome<br />
1248 Chronic active Epstein-Barr virus infection
1249 Chronic atypical neutrophilic dermatosis with lipodystrophy <strong>and</strong><br />
elevated tem<strong>per</strong>ature<br />
1250 Chronic berylliosis<br />
1251 Chronic demyelinizing neuropathy with IgM monoclonal<br />
1252 Chronic erosive g<strong>as</strong>tritis<br />
1253 Chronic graft versus host dise<strong>as</strong>e<br />
1254 Chronic granulomatous dise<strong>as</strong>e<br />
1255 Chronic hiccups<br />
1256 Chronic Infantile Neurological Cutaneous Articular syndrome<br />
1257 Chronic inflammatory demyelinating polyneuropathy<br />
1258 Chronic lymphocytic inflammation with pontine <strong>per</strong>iv<strong>as</strong>cular<br />
enhancement responsive to steroids<br />
1259 Chronic lymphocytic leukemia<br />
1260 Chronic myeloid leukemia<br />
1261 Chronic myelomonocytic leukemia<br />
1262 Chronic myeloproliferative disorders<br />
1263 Chronic neutrophilic leukemia<br />
1264 Chronic polyradiculoneuritis<br />
1265 Chronic progressive external ophthalmoplegia<br />
1266 Chronic recurrent multifocal osteomyelitis<br />
1267 Chudley Rozdilsky syndrome<br />
1268 Chudley-Mccullough syndrome<br />
1269 Churg Strauss syndrome<br />
1270 Chylomicron retention dise<strong>as</strong>e<br />
1271 Chylothorax, congenital<br />
1272 Chylous <strong>as</strong>cites<br />
1273 Cicatricial pemphigoid<br />
1274 Ciguatera fish poisoning<br />
1275 Ciliary discoordination, due to r<strong>and</strong>om ciliary orientation<br />
1276 Ciliary dyskinesia with excessively long cilia<br />
1277 Ciliary dyskinesia, due to transposition <strong>of</strong> ciliary microtubules<br />
1278 Ciliary dyskinesia-bronchiect<strong>as</strong>is<br />
1279 Circumscribed cutaneous apl<strong>as</strong>ia <strong>of</strong> the vertex<br />
1280 Circumscribed disseminated keratosis Jad<strong>as</strong>sohn Lew type<br />
1281 Citrulline transport defect<br />
1282 Citrullinemia type I<br />
1283 Clark-Baraitser syndrome<br />
1284 Cl<strong>as</strong>ped thumbs, congenital<br />
1285 Cl<strong>as</strong>sic Kaposi sarcoma<br />
1286 Clear cell renal cell carcinoma
1287 Cleft h<strong>and</strong> absent tibia<br />
1288 Cleft lip <strong>and</strong> palate malrotation cardiopathy<br />
1289 Cleft lip <strong>and</strong>/or palate with mucous cysts <strong>of</strong> lower<br />
1290 Cleft lip palate dysmorphism Kumar type<br />
1291 Cleft lip palate mental retardation corneal opacity<br />
1292 Cleft lip palate oligodontia syndactyly pili torti<br />
1293 Cleft lip palate pituitary deficiency<br />
1294 Cleft lip palate-tetraphocomelia<br />
1295 Cleft lower lip cleft lateral canthi chorioretinal<br />
1296 Cleft palate cardiac defect ectrodactyly<br />
1297 Cleft palate colobomata radial synostosis deafness<br />
1298 Cleft palate heart dise<strong>as</strong>e polydactyly absent tibia<br />
1299 Cleft palate lateral synechia syndrome<br />
1300 Cleft palate short stature vertebral anomalies<br />
1301 Cleft palate stapes fixation oligodontia<br />
1302 Cleft palate X-linked<br />
1303 Cleft palate, midfacial hypopl<strong>as</strong>ia, triangular facies, <strong>and</strong><br />
sensorineural hearing loss<br />
1304 Cleft tongue syndrome<br />
1305 Cleft up<strong>per</strong> lip median cutaneous polyps<br />
1306 Cleidocranial dyspl<strong>as</strong>ia<br />
1307 Cleidocranial dyspl<strong>as</strong>ia recessive form<br />
1308 Cleidorhizomelic syndrome<br />
1309 C-like syndrome<br />
1310 Cloacal exstrophy<br />
1311 Clostridium difficile<br />
1312 Clostridium sordellii<br />
1313 CLOVES syndrome<br />
1314 Cluster headache<br />
1315 Cluttering<br />
1316 CMV antenatal infection<br />
1317 COACH syndrome<br />
1318 Coal worker's pneumoconiosis<br />
1319 Coarctation <strong>of</strong> aorta dominant<br />
1320 Coarse face hypotonia constipation<br />
1321 Coats dise<strong>as</strong>e<br />
1322 Cocaine antenatal infection<br />
1323 Coccidioidomycosis<br />
1324 Coccygodynia
1325 Cochleosaccular degeneration <strong>of</strong> the inner ear <strong>and</strong> progressive<br />
cataracts<br />
1326 Cockayne syndrome<br />
1327 Cockayne syndrome type I<br />
1328 Cockayne syndrome type II<br />
1329 Cockayne syndrome type III<br />
1330 CODAS syndrome<br />
1331 Coenzyme Q cytochrome c reduct<strong>as</strong>e deficiency <strong>of</strong><br />
1332 Coenzyme Q10 deficiency<br />
1333 C<strong>of</strong>fin syndrome 1<br />
1334 C<strong>of</strong>fin-Lowry syndrome<br />
1335 C<strong>of</strong>fin-Siris syndrome<br />
1336 Cogan-Reese syndrome<br />
1337 Cogan's syndrome<br />
1338 Cohen Hayden syndrome<br />
1339 Cohen Lockood Wyborney syndrome<br />
1340 Cohen syndrome<br />
1341 Cold agglutinin dise<strong>as</strong>e<br />
1342 Cold contact urticaria<br />
1343 Cole Carpenter syndrome<br />
1344 Collagenopathy type 2 alpha 1<br />
1345 Collagenous colitis<br />
1346 Collagenous g<strong>as</strong>tritis<br />
1347 Collecting duct carcinoma<br />
1348 Collins Pope syndrome<br />
1349 Collins Sakati syndrome<br />
1350 Colloid cysts <strong>of</strong> third ventricle<br />
1351 Coloboma chorioretinal cerebellar vermis apl<strong>as</strong>ia<br />
1352 Coloboma <strong>of</strong> alar-n<strong>as</strong>al cartilages with telecanthus<br />
1353 Coloboma <strong>of</strong> eye lens<br />
1354 Coloboma <strong>of</strong> iris<br />
1355 Coloboma <strong>of</strong> macula<br />
1356 Coloboma <strong>of</strong> macula with type B brachydactyly<br />
1357 Coloboma <strong>of</strong> optic nerve<br />
1358 Coloboma <strong>of</strong> optic papilla<br />
1359 Coloboma porencephaly hydronephrosis<br />
1360 Coloboma, cleft lip/palate <strong>and</strong> mental retardation syndrome<br />
1361 Colobomata unilobar lung heart defect<br />
1362 Colobomatous microphthalmia heart dise<strong>as</strong>e hearing<br />
1363 Colonic atresia
1364 Colonic malakoplakia<br />
1365 Colorectal cancer, childhood<br />
1366 Colpocephaly<br />
1367 Colver Steer Godman syndrome<br />
1368 Combarros Calleja Leno syndrome<br />
1369 Combined malonic <strong>and</strong> methylmalonic aciduria<br />
1370 Common variable immunodeficiency<br />
1371 Compartment syndrome<br />
1372 Complement component 2 deficiency<br />
1373 Complement component 8 deficiency type 1<br />
1374 Complement component 8 deficiency type 2<br />
1375 Complement component deficiency<br />
1376 Complement component receptor 1<br />
1377 Complement receptor deficiency<br />
1378 Complete <strong>and</strong>rogen insensitivity syndrome<br />
1379 Complete atrioventricular canal<br />
1380 Complex regional pain syndrome<br />
1381 Condensing osteitis <strong>of</strong> the clavicle<br />
1382 Conductive deafness with malformed external ear<br />
1383 Cone dystrophy X-linked with tapetal-like sheen<br />
1384 Cone-rod dystrophy<br />
1385 Cone-rod dystrophy 1<br />
1386 Cone-rod dystrophy 2<br />
1387 Cone-rod dystrophy 3<br />
1388 Cone-rod dystrophy 5<br />
1389 Cone-rod dystrophy 6<br />
1390 Cone-rod dystrophy amelogenesis im<strong>per</strong>fecta<br />
1391 Cone-rod dystrophy X-linked 1<br />
1392 Cone-rod dystrophy X-linked 2<br />
1393 Cone-rod dystrophy X-linked 3<br />
1394 Congenital absence <strong>of</strong> the sternocleidom<strong>as</strong>toid muscle<br />
1395 Congenital adrenal hy<strong>per</strong>pl<strong>as</strong>ia<br />
1396 Congenital alopecia X-linked<br />
1397 Congenital amegakaryocytic thrombocytopenia<br />
1398 Congenital amputation<br />
1399 Congenital aneurysms <strong>of</strong> the great vessels<br />
1400 Congenital anosmia<br />
1401 Congenital antithrombin deficiency<br />
1402 Congenital antithrombin deficiency type 2<br />
1403 Congenital antithrombin deficiency type 3
1404 Congenital apl<strong>as</strong>tic anemia<br />
1405 Congenital arteriovenous shunt<br />
1406 Congenital articular rigidity<br />
1407 Congenital benign spinal muscular atrophy dominant<br />
1408 Congenital bilateral absence <strong>of</strong> the v<strong>as</strong> deferens<br />
1409 Congenital bronchobiliary fistula<br />
1410 Congenital cardiov<strong>as</strong>cular shunt<br />
1411 Congenital central hypoventilation syndrome<br />
1412 Congenital chloride diarrhea<br />
1413 Congenital contractural arachnodactyly<br />
1414 Congenital contractures<br />
1415 Congenital craniosynostosis maternal hy<strong>per</strong>thyroiditis<br />
1416 Congenital cystic eye<br />
1417 Congenital cystic eye multiple ocular <strong>and</strong> intracranial anomalies<br />
1418 Congenital cytomegalovirus<br />
1419 Congenital diaphragmatic hernia<br />
1420 Congenital dislocation <strong>of</strong> the patella<br />
1421 Congenital disorder <strong>of</strong> glycosylation type 1A<br />
1422 Congenital disorder <strong>of</strong> glycosylation type 1B<br />
1423 Congenital disorder <strong>of</strong> glycosylation type 1C<br />
1424 Congenital disorder <strong>of</strong> glycosylation type 1D<br />
1425 Congenital disorder <strong>of</strong> glycosylation type 1E<br />
1426 Congenital disorder <strong>of</strong> glycosylation type 1F<br />
1427 Congenital disorder <strong>of</strong> glycosylation type 1G<br />
1428 Congenital disorder <strong>of</strong> glycosylation type 1H<br />
1429 Congenital disorder <strong>of</strong> glycosylation type 1I<br />
1430 Congenital disorder <strong>of</strong> glycosylation type 1J<br />
1431 Congenital disorder <strong>of</strong> glycosylation type 1K<br />
1432 Congenital disorder <strong>of</strong> glycosylation type 1L<br />
1433 Congenital disorder <strong>of</strong> glycosylation type 2A<br />
1434 Congenital disorder <strong>of</strong> glycosylation type 2B<br />
1435 Congenital disorder <strong>of</strong> glycosylation type 2C<br />
1436 Congenital disorder <strong>of</strong> glycosylation type 2D<br />
1437 Congenital disorder <strong>of</strong> glycosylation type 2E<br />
1438 Congenital disorder <strong>of</strong> glycosylation type 2G<br />
1439 Congenital disorder <strong>of</strong> glycosylation type I/IIX<br />
1440 Congenital disorder <strong>of</strong> glycosylation type IIL<br />
1441 Congenital disorders <strong>of</strong> glycosylation<br />
1442 Congenital dyserythropoietic anemia<br />
1443 Congenital dyserythropoietic anemia type 1
1444 Congenital dyserythropoietic anemia type 2<br />
1445 Congenital dyserythropoietic anemia type 3<br />
1446 Congenital ectodermal dyspl<strong>as</strong>ia with hearing loss<br />
1447 Congenital extrahepatic portosystemic shunt<br />
1448 Congenital fiber type disproportion<br />
1449 Congenital generalized fibromatosis<br />
1450 Congenital generalized lipodystrophy type 1<br />
1451 Congenital generalized lipodystrophy type 2<br />
1452 Congenital generalized lipodystrophy type 4<br />
1453 Congenital giant megaureter<br />
1454 Congenital heart block<br />
1455 Congenital heart dise<strong>as</strong>e ptosis hypodontia craniostosis<br />
1456 Congenital heart dise<strong>as</strong>e radio ulnar synostosis mental retardation<br />
1457 Congenital hemolytic anemia<br />
1458 Congenital hepatic fibrosis<br />
1459 Congenital herpes simplex<br />
1460 Congenital human immunodeficiency virus<br />
1461 Congenital hypomyelination neuropathy<br />
1462 Congenital hypothyroidism<br />
1463 Congenital hypotrichosis milia<br />
1464 Congenital ichthyosis, microcephalus, quadriplegia<br />
1465 Congenital insensitivity to pain with anhidrosis<br />
1466 Congenital lipoid adrenal hy<strong>per</strong>pl<strong>as</strong>ia<br />
1467 Congenital lobar emphysema<br />
1468 Congenital megalo-ureter<br />
1469 Congenital mesobl<strong>as</strong>tic nephroma<br />
1470 Congenital mitral malformation<br />
1471 Congenital mitral stenosis<br />
1472 Congenital mixovirus<br />
1473 Congenital mumps<br />
1474 Congenital muscular dystrophy<br />
1475 Congenital muscular dystrophy syringomyelia<br />
1476 Congenital muscular dystrophy type 1A<br />
1477 Congenital my<strong>as</strong>thenic syndrome <strong>as</strong>sociated with acetylcholine<br />
receptor deficiency<br />
1478 Congenital my<strong>as</strong>thenic syndrome with episodic apnea<br />
1479 Congenital myotonic dystrophy<br />
1480 Congenital nephrotic syndrome Finnish type<br />
1481 Congenital nonhemolytic jaundice
1482 Congenital nonprogressive myopathy with Moebius <strong>and</strong> Robin<br />
sequences<br />
1483 Congenital porphyria<br />
1484 Congenital primary aphakia<br />
1485 Congenital pseudoarthrosis<br />
1486 Congenital pulmonary alveolar proteinosis<br />
1487 Congenital pulmonary lymphangiect<strong>as</strong>ia<br />
1488 Congenital radio-ulnar synostosis<br />
1489 Congenital rubella<br />
1490 Congenital short femur<br />
1491 Congenital stenosis <strong>of</strong> cervical medullary canal<br />
1492 Congenital sucr<strong>as</strong>e-isomalt<strong>as</strong>e deficiency<br />
1493 Congenital sucrose isomaltose malabsorption<br />
1494 Congenital torticollis<br />
1495 Congenital tracheomalacia<br />
1496 Congenital unilateral pulmonary hypopl<strong>as</strong>ia<br />
1497 Congenital vagal hy<strong>per</strong>reflexivity<br />
1498 Congenital varicella syndrome<br />
1499 Congenitally corrected transposition <strong>of</strong> the great arteries<br />
1500 Conjunctival melanoma<br />
1501 Conjunctivitis ligneous<br />
1502 Conjunctivitis with Pseudomembrane<br />
1503 Connective tissue dyspl<strong>as</strong>ia Spellacy type<br />
1504 Conn's syndrome<br />
1505 Conotruncal heart malformations<br />
1506 Continuous muscle fiber activity hereditary<br />
1507 Continuous spike-wave during slow sleep syndrome<br />
1508 Conversion disorder<br />
1509 Convulsions benign familial neonatal dominant form<br />
1510 Convulsions, benign familial infantile, 1<br />
1511 Cop<strong>per</strong> deficiency, familial benign<br />
1512 CoQ-responsive OXPHOS deficiency<br />
1513 Cor biloculare<br />
1514 Cor triatriatum<br />
1515 Cormier Rustin Munnich syndrome<br />
1516 Cornea guttata with anterior polar cataract<br />
1517 Corneal anesthesia deafness mental retardation<br />
1518 Corneal crystals myopathy neuropathy<br />
1519 Corneal dystrophy <strong>and</strong> <strong>per</strong>ceptive deafness<br />
1520 Corneal dystrophy Avellino type
1521 Corneal dystrophy crystalline <strong>of</strong> Schnyder<br />
1522 Corneal dystrophy Fuchs endothelial 1<br />
1523 Corneal dystrophy ichthyosis microcephaly mental retardation<br />
1524 Corneal dystrophy <strong>of</strong> Bowman layer type 1<br />
1525 Corneal dystrophy pigmentary anomaly malabsorption<br />
1526 Corneal dystrophy Thiel Behnke type<br />
1527 Corneal endothelial dystrophy type 2<br />
1528 Corneal hypesthesia, familial<br />
1529 Cornelia de Lange syndrome<br />
1530 Corneodermatoosseous syndrome<br />
1531 Coronal synostosis, syndactyly <strong>and</strong> jejunal atresia<br />
1532 Coronaro-cardiac fistula<br />
1533 Coronary arteries congenital malformation<br />
1534 Coronary artery aneurysm<br />
1535 Corpus callosum agenesis<br />
1536 Corpus callosum agenesis double urinary collecting<br />
1537 Corpus callosum agenesis <strong>of</strong> blepharophimosis Robin type<br />
1538 Corpus callosum dysgenesis cleft sp<strong>as</strong>m<br />
1539 Corpus callosum dysgenesis hypopituitarism<br />
1540 Corpus callosum dysgenesis X-linked recessive<br />
1541 Cortada Koussef Matsumoto syndrome<br />
1542 Cortes Lac<strong>as</strong>sie syndrome<br />
1543 Cortical blindness mental retardation polydactyly<br />
1544 Cortical defects wormian bones <strong>and</strong> dentinogenesis im<strong>per</strong>fecta<br />
1545 Corticob<strong>as</strong>al degeneration<br />
1546 Corticosteroid-sensitive <strong>as</strong>eptic abscesses<br />
1547 Cortisone reduct<strong>as</strong>e deficiency<br />
1548 Costello syndrome<br />
1549 Costocoracoid ligament congenitally short<br />
1550 Cote Katsantoni syndrome<br />
1551 Cough headache<br />
1552 Cousin syndrome<br />
1553 Cowchock syndrome<br />
1554 Cowden syndrome<br />
1555 Coxa vara, congenital<br />
1556 Coxoauricular syndrome<br />
1557 Cramp-f<strong>as</strong>ciculation syndrome<br />
1558 Cr<strong>and</strong>all syndrome<br />
1559 Crane-Heise syndrome<br />
1560 Cranio osteoarthropathy
1561 Cranioacr<strong>of</strong>acial syndrome<br />
1562 Craniodiaphyseal dyspl<strong>as</strong>ia<br />
1563 Craniodigital syndrome mental retardation<br />
1564 Cranioectodermal dyspl<strong>as</strong>ia<br />
1565 Crani<strong>of</strong>acial <strong>and</strong> skeletal defects<br />
1566 Crani<strong>of</strong>acial deafness h<strong>and</strong> syndrome<br />
1567 Crani<strong>of</strong>acial dysostosis arthrogryposis progeroid appearence<br />
1568 Crani<strong>of</strong>acial dysostosis with diaphyseal hy<strong>per</strong>pl<strong>as</strong>ia<br />
1569 Crani<strong>of</strong>acial dyssynostosis<br />
1570 Crani<strong>of</strong>acial dystonia<br />
1571 Crani<strong>of</strong>ronton<strong>as</strong>al dyspl<strong>as</strong>ia<br />
1572 Crani<strong>of</strong>ronton<strong>as</strong>al syndrome Teebi type<br />
1573 Craniometaphyseal dyspl<strong>as</strong>ia, autosomal dominant<br />
1574 Craniometaphyseal dyspl<strong>as</strong>ia, autosomal recessive type<br />
1575 Craniomicromelic syndrome<br />
1576 Craniopharyngioma<br />
1577 Craniorachischisis<br />
1578 Craniostenosis cataract<br />
1579 Craniostenosis with congenital heart dise<strong>as</strong>e mental retardation<br />
1580 Craniosynostosis<br />
1581 Craniosynostosis alopecia brain defect<br />
1582 Craniosynostosis arthrogryposis cleft palate<br />
1583 Craniosynostosis autosomal dominant<br />
1584 Craniosynostosis cleft lip palate arthrogryposis<br />
1585 Craniosynostosis contractures cleft<br />
1586 Craniosynostosis exostoses nevus epibulbar dermoid<br />
1587 Craniosynostosis Fontaine type<br />
1588 Craniosynostosis Maroteaux Fonfria type<br />
1589 Craniosynostosis mental retardation clefting syndrome<br />
1590 Craniosynostosis mental retardation heart defects<br />
1591 Craniosynostosis Philadelphia type<br />
1592 Craniosynostosis, anal anomalies, <strong>and</strong> porokeratosis<br />
1593 Craniosynostosis-mental retardation syndrome <strong>of</strong> Lin <strong>and</strong> Gettig<br />
1594 Craniotelencephalic dyspl<strong>as</strong>ia<br />
1595 Crawfurd syndrome<br />
1596 Creeping myi<strong>as</strong>is<br />
1597 Cretinism athyreotic<br />
1598 Creutzfeldt-Jakob dise<strong>as</strong>e<br />
1599 Cri du chat syndrome<br />
1600 Crigler Najjar syndrome, type 1
1601 Crigler Najjar syndrome, type 2<br />
1602 Crisponi syndrome<br />
1603 Crohn's dise<strong>as</strong>e <strong>of</strong> the esophagus<br />
1604 Crome syndrome<br />
1605 Cronkhite-Canada dise<strong>as</strong>e<br />
1606 Crossed polydactyly type 1<br />
1607 Crossed polysyndactyly<br />
1608 Crouzon syndrome<br />
1609 Crumpled helices <strong>and</strong> small mouth<br />
1610 Cry<strong>of</strong>ibrinogenemia<br />
1611 Cryoglobulinemia<br />
1612 Cryoglobulinemia, familial mixed<br />
1613 Cryopyrin-<strong>as</strong>sociated <strong>per</strong>iodic syndrome<br />
1614 Cryptococcosis<br />
1615 Cryptogenic organizing pneumonia<br />
1616 Cryptomicrotia brachydactyly syndrome<br />
1617 Cryptophthalmos<br />
1618 Cryptorchidism arachnodactyly mental retardation<br />
1619 Cryptosporidiosis<br />
1620 Curly hair-acral keratoderma-caries syndrome<br />
1621 Currarino triad<br />
1622 Curry Jones syndrome<br />
1623 Cushing syndrome, familial<br />
1624 Cushing's symphalangism<br />
1625 Cushing's syndrome<br />
1626 Cutaneous anthrax<br />
1627 Cutaneous larva migrans<br />
1628 Cutaneous lupus erythematosus<br />
1629 Cutaneous m<strong>as</strong>tocytosis<br />
1630 Cutaneous necrotizing v<strong>as</strong>culitis<br />
1631 Cutaneous photosensitivity <strong>and</strong> colitis, lethal<br />
1632 Cutaneous polyarteritis nodosa<br />
1633 Cutaneous sclerosis<br />
1634 Cutaneous T-cell lymphoma<br />
1635 Cutis Gyrata syndrome <strong>of</strong> Beare <strong>and</strong> Stevenson<br />
1636 Cutis gyratum acanthosis nigricans craniosynostosis<br />
1637 Cutis laxa<br />
1638 Cutis laxa osteoporosis<br />
1639 Cutis laxa, autosomal dominant<br />
1640 Cutis laxa, autosomal recessive type 1
1641 Cutis laxa, autosomal recessive type 2A<br />
1642 Cutis laxa, autosomal recessive type 2B<br />
1643 Cutis marmorata telangiectatica congenita<br />
1644 Cutis verticis gyrata<br />
1645 Cutis verticis gyrata mental deficiency<br />
1646 Cutler B<strong>as</strong>s Romshe syndrome<br />
1647 Cyclic neutropenia<br />
1648 Cyclic thrombocytopenia<br />
1649 Cyclic vomiting syndrome<br />
1650 Cyclospori<strong>as</strong>is<br />
1651 Cyprus facial neuromusculoskeletal syndrome<br />
1652 Cystic adenomatoid malformation <strong>of</strong> lung<br />
1653 Cystic fibrosis<br />
1654 Cystic hygroma<br />
1655 Cystic hygroma lethal cleft palate<br />
1656 Cystic medial necrosis <strong>of</strong> aorta<br />
1657 Cysticercosis<br />
1658 Cystinosis<br />
1659 Cystinosis, ocular nonnephropathic<br />
1660 Cystinuria<br />
1661 Cystosarcoma phyllodes<br />
1662 Cytokine deficiency<br />
1663 Cytokine receptor deficiency<br />
1664 Cytomegalic inclusion dise<strong>as</strong>e<br />
1665 Cytomegalovirus retinitis<br />
1666 Cytopl<strong>as</strong>mic body myopathy<br />
1667 Czech dyspl<strong>as</strong>ia metatarsal type<br />
1668 D ercole syndrome<br />
1669 D-2-alpha hydroxyglutaric aciduria<br />
1670 Daentl Towsend Siegel syndrome<br />
1671 Dahlberg Borer Newcomer syndrome<br />
1672 Daish Hardman Lamont syndrome<br />
1673 Dancing eyes-dancing feet syndrome<br />
1674 D<strong>and</strong>y-Walker complex<br />
1675 D<strong>and</strong>y-Walker cyst with Renal-Hepatic-Pancreatic dyspl<strong>as</strong>ia<br />
1676 D<strong>and</strong>y-Walker like malformation with atrioventricular septal<br />
defect<br />
1677 D<strong>and</strong>y-Walker malformation <strong>as</strong>sociated with macrocephaly, facial<br />
anomalies, developmental delay, <strong>and</strong> brain stem dysgenesis<br />
1678 D<strong>and</strong>y-Walker malformation with facial hemangioma
1679 D<strong>and</strong>y-Walker malformation with mental retardation b<strong>as</strong>al<br />
ganglia dise<strong>as</strong>e <strong>and</strong> seizures<br />
1680 D<strong>and</strong>y-Walker malformation with mental retardation,<br />
macrocephaly, myopia <strong>and</strong> brachytelephalangy<br />
1681 D<strong>and</strong>y-Walker malformation with n<strong>as</strong>opharyngeal teratoma <strong>and</strong><br />
diaphragmatic hernia<br />
1682 D<strong>and</strong>y-Walker malformation with postaxial polydactyly<br />
1683 D<strong>and</strong>y-Walker malformation with sagittal craniosynostosis <strong>and</strong><br />
hydrocephalus<br />
1684 Daneman Davy Mancer syndrome<br />
1685 Danon dise<strong>as</strong>e<br />
1686 Darier dise<strong>as</strong>e<br />
1687 Dauwerse-Peters syndrome<br />
1688 Davenport Donlan syndrome<br />
1689 Davis Lafer syndrome<br />
1690 D-bifunctional protein deficiency<br />
1691 De Barsy syndrome<br />
1692 De Quervain's dise<strong>as</strong>e<br />
1693 De Sanctis-Cacchione syndrome<br />
1694 Deafness conductive ptosis skeletal anomalies<br />
1695 Deafness conductive stapedial ear malformation facial palsy<br />
1696 Deafness crani<strong>of</strong>acial syndrome<br />
1697 Deafness enamel hypopl<strong>as</strong>ia nail defects<br />
1698 Deafness goiter stippled epiphyses<br />
1699 Deafness hy<strong>per</strong>uricemia neurologic ataxia<br />
1700 Deafness hypogonadism syndrome<br />
1701 Deafness hypospadi<strong>as</strong> metacarpal <strong>and</strong> metatarsal syndrome<br />
1702 Deafness mesenteric diverticula <strong>of</strong> small bowel neuropathy<br />
1703 Deafness mixed with <strong>per</strong>ilymphatic Gusher, X-linked<br />
1704 Deafness nephritis anorectal malformation<br />
1705 Deafness oligodontia syndrome<br />
1706 Deafness onychodystrophy dominant form<br />
1707 Deafness onychodystrophy osteodystrophy <strong>and</strong> mental retardation<br />
syndrome<br />
1708 Deafness <strong>per</strong>ipheral neuropathy arterial dise<strong>as</strong>e<br />
1709 Deafness progressive cataract autosomal dominant<br />
1710 Deafness vitiligo achal<strong>as</strong>ia<br />
1711 Deafness with labyrinthine apl<strong>as</strong>ia microtia <strong>and</strong> microdontia<br />
(LAMM)<br />
1712 Deafness X-linked, DFN3
1713 Deafness, autosomal dominant nonsyndromic sensorineural 17<br />
1714 Deafness, autosomal dominant nonsyndromic sensorineural 22<br />
1715 Deafness, autosomal dominant nonsyndromic sensorineural 23<br />
1716 Deafness, autosomal dominant nonsyndromic sensorineural 24<br />
1717 Deafness, autosomal dominant nonsyndromic sensorineural 3<br />
1718 Deafness, autosomal dominant nonsyndromic sensorineural 53<br />
1719 Deafness, autosomal recessive 51<br />
1720 Deafness, autosomal recessive 55<br />
1721 Deafness, epiphyseal dyspl<strong>as</strong>ia, short stature<br />
1722 Deafness, isolated, due to mitochondrial transmission<br />
1723 Deafness, neurosensory nonsyndromic recessive, DFN<br />
1724 Deafness, neurosensory, autosomal recessive 47<br />
1725 Deafness, progressive with stapes fixation<br />
1726 Deafness, X-linked 2<br />
1727 Deafness, X-linked, DFN<br />
1728 Deal Barratt Dillon syndrome<br />
1729 Defective apolipoprotein B-100<br />
1730 Deficiency <strong>of</strong> interleukin-1 receptor antagonist<br />
1731 Degos dise<strong>as</strong>e<br />
1732 Degos 'en cocarde' erythrokeratoderma<br />
1733 Dehydrated hereditary stomatocytosis<br />
1734 Dehydrated hereditary stomatocytosis pseudohy<strong>per</strong>kalemia <strong>and</strong><br />
<strong>per</strong>inatal edema<br />
1735 Delayed membranous cranial ossification<br />
1736 Delta-1-pyrroline-5-carboxylate dehydrogen<strong>as</strong>e deficiency<br />
1737 Delta-sarcoglycanopathy<br />
1738 Dementia familial British<br />
1739 Dementia, familial Danish<br />
1740 Demodicidosis<br />
1741 Dendritic cell, monocyte, B lymphocyte, <strong>and</strong> natural killer<br />
lymphocyte deficiency<br />
1742 Dengue fever<br />
1743 Dennis Fairhurst Moore syndrome<br />
1744 Dens in dente <strong>and</strong> palatal invaginations<br />
1745 Dent dise<strong>as</strong>e 1<br />
1746 Dent dise<strong>as</strong>e 2<br />
1747 Dentatorubral-pallidoluysian atrophy<br />
1748 Dentin dyspl<strong>as</strong>ia sclerotic bones<br />
1749 Dentin dyspl<strong>as</strong>ia, coronal<br />
1750 Dentin dyspl<strong>as</strong>ia, type 1
1751 Dentinogenesis im<strong>per</strong>fecta 1<br />
1752 Dentinogenesis im<strong>per</strong>fecta Shields type 3<br />
1753 Denys-Dr<strong>as</strong>h syndrome<br />
1754 De<strong>per</strong>sonalization disorder<br />
1755 Der Kaloustian Mcintosh Silver syndrome<br />
1756 Dermal eccrine cylindroma<br />
1757 Dermatitis herpetiformis familial<br />
1758 Dermatocardioskeletal syndrome Boronne type<br />
1759 Dermat<strong>of</strong>ibroma<br />
1760 Dermat<strong>of</strong>ibrosarcoma protuberans<br />
1761 Dermatoleukodystrophy<br />
1762 Dermatomyositis<br />
1763 Dermatoosteolysis Kirghizian type<br />
1764 Dermatopathia pigmentosa reticularis<br />
1765 Dermochondrocorneal dystrophy <strong>of</strong> François<br />
1766 Dermoids <strong>of</strong> cornea<br />
1767 Dermoodontodyspl<strong>as</strong>ia<br />
1768 Desbuquois syndrome<br />
1769 Desmoid dise<strong>as</strong>e, hereditary<br />
1770 Desmoid tumor<br />
1771 Desmopl<strong>as</strong>tic infantile <strong>as</strong>trocytoma<br />
1772 Desmopl<strong>as</strong>tic infantile ganglioglioma<br />
1773 Desmopl<strong>as</strong>tic small round cell tumor<br />
1774 Desmosterolosis<br />
1775 Developmental dysph<strong>as</strong>ia familial<br />
1776 Devic dise<strong>as</strong>e<br />
1777 Devriendt syndrome<br />
1778 Dextrocardia<br />
1779 Dextrocardia with situs inversus<br />
1780 Dextrocardia with unusual facies <strong>and</strong> microphthalmia<br />
1781 DFNB1<br />
1782 D-glycericacidemia<br />
1783 Di Guglielmo's syndrome<br />
1784 Diabetes hypogonadism deafness mental retardation<br />
1785 Diabetes insipidus nephrogenic mental retardation <strong>and</strong><br />
intracerebral calcification<br />
1786 Diabetes <strong>per</strong>sistent mullerian ducts<br />
1787 Diabetes-deafness syndrome, maternally transmitted<br />
1788 Diabetic m<strong>as</strong>topathy<br />
1789 Diamond-Blackfan anemia
1790 Diamond-Blackfan anemia 2<br />
1791 Diamond-Blackfan anemia 3<br />
1792 Dianzani autoimmune lymphoproliferative syndrome<br />
1793 Diaphragmatic agenesis radial apl<strong>as</strong>ia omphalocele<br />
1794 Diaphragmatic hernia exomphalos corpus callosum agenesis<br />
1795 Diaphragmatic hernia up<strong>per</strong> limb defects<br />
1796 Diaphyseal medullary stenosis with malignant fibrous<br />
histiocytoma<br />
1797 Di<strong>as</strong>tematomyelia<br />
1798 Di<strong>as</strong>trophic dyspl<strong>as</strong>ia<br />
1799 Dib<strong>as</strong>ic aminoaciduria 1<br />
1800 Dib<strong>as</strong>ic aminoaciduria 2<br />
1801 Dicarboxylic aminoaciduria<br />
1802 DICER1-related pleuropulmonary bl<strong>as</strong>toma cancer predisposition<br />
syndrome<br />
1803 Die Smulders Droog Van Dijk syndrome<br />
1804 Die Smulders Vles Fryns syndrome<br />
1805 Diencephalic syndrome<br />
1806 Dieterich's dise<strong>as</strong>e<br />
1807 Diethylstilbestrol antenatal infection<br />
1808 Dieulafoy lesion<br />
1809 Diffuse <strong>as</strong>trocytoma<br />
1810 Diffuse cavernous hemangioma <strong>of</strong> the rectum<br />
1811 Diffuse dermal angiomatosis<br />
1812 Diffuse g<strong>as</strong>tric cancer<br />
1813 Diffuse idiopathic pulmonary neuroendocrine cell hy<strong>per</strong>pl<strong>as</strong>ia<br />
1814 Diffuse mesangial sclerosis<br />
1815 Diffuse neonatal hemangiomatosis<br />
1816 Diffuse palmoplantar keratoderma, Bothnian type<br />
1817 Diffuse panbronchiolitis<br />
1818 Diffuse scleroderma<br />
1819 Diffuse systemic sclerosis<br />
1820 Digitorenocerebral syndrome<br />
1821 Dihydropteridine reduct<strong>as</strong>e deficiency<br />
1822 Dihydropyrimidine dehydrogen<strong>as</strong>e deficiency<br />
1823 Dihydroxyadeninuria<br />
1824 Dilated cardiomyopathy<br />
1825 Dilated cardiomyopathy with hy<strong>per</strong>gonadotropic hypogonadism<br />
1826 Dincsoy-Salih-Patel syndrome<br />
1827 Diomedi Bernardi Placidi syndrome
1828 Diphallia<br />
1829 Diphallus rachischisis im<strong>per</strong>forate anus<br />
1830 Diphosphoglycerate mut<strong>as</strong>e deficiency <strong>of</strong> erythrocyte<br />
1831 Diphtheria<br />
1832 Diploid-triploid mosaicism<br />
1833 Diprosopia<br />
1834 Dipsogenic diabetes insipidus<br />
1835 Dissecting cellulitis <strong>of</strong> the scalp<br />
1836 Disseminated infection with mycobacterium avium complex<br />
1837 Disseminated su<strong>per</strong>ficial actinic porokeratosis<br />
1838 Distal arthrogryposis Moore Weaver type<br />
1839 Distal arthrogryposis type 5<br />
1840 Distal chromosome 18q deletion syndrome<br />
1841 Distal myopathy Markesbery-Griggs type<br />
1842 Distal myopathy with vocal cord weakness<br />
1843 Distal primary acidosis, familial<br />
1844 Distichi<strong>as</strong>is heart congenital anomalies<br />
1845 Distomatosis<br />
1846 DK phocomelia syndrome<br />
1847 D-minus hemolytic uremic syndrome (D-H<strong>US</strong>)<br />
1848 Dobrow syndrome<br />
1849 Dominant cleft palate<br />
1850 Dominant ichthyosis vulgaris<br />
1851 Donnai-Barrow syndrome<br />
1852 Dopamine beta hydroxyl<strong>as</strong>e deficiency<br />
1853 Dosage-sensitive sex reversal<br />
1854 Double discordia<br />
1855 Double fingernail <strong>of</strong> fifth finger<br />
1856 Double nails on the fifth toe<br />
1857 Double outlet left ventricle<br />
1858 Double outlet right ventricle<br />
1859 Double uterus-hemivagina-renal agenesis<br />
1860 Dowling-Degos dise<strong>as</strong>e<br />
1861 Doxorubicin induced cardiomyopathy<br />
1862 Doyne honeycomb retinal dystrophy<br />
1863 D-plus hemolytic uremic syndrome (D+H<strong>US</strong>)<br />
1864 Drachtman Weinblatt Sitarz syndrome<br />
1865 Dracunculi<strong>as</strong>is<br />
1866 Dravet syndrome<br />
1867 Duane anomaly mental retardation
1868 Duane syndrome<br />
1869 Duane syndrome type 1<br />
1870 Duane syndrome type 2<br />
1871 Duane syndrome type 3<br />
1872 Duane-radial ray syndrome<br />
1873 Dubin-Johnson syndrome<br />
1874 Dubowitz syndrome<br />
1875 Duchenne muscular dystrophy<br />
1876 Duhring Brocq dise<strong>as</strong>e<br />
1877 Duker Weiss Siber syndrome<br />
1878 Duodenal atresia<br />
1879 Duodenal atresia tetralogy <strong>of</strong> Fallot<br />
1880 Duodenal ulcer due to antral G-cell hy<strong>per</strong>function<br />
1881 Duodenojejunal atresia with volvulus, absent dorsal mesentery<br />
<strong>and</strong> absent su<strong>per</strong>ior mesenteric artery<br />
1882 Duplication <strong>of</strong> leg mirror foot<br />
1883 Duplication <strong>of</strong> the thumb unilateral biphalangeal<br />
1884 Duplication <strong>of</strong> urethra<br />
1885 Dupont Sellier Chochillon syndrome<br />
1886 Dupuytren subungual exostosis<br />
1887 Dwarfism bluish sclerae<br />
1888 Dwarfism deafness retinitis pigmentosa<br />
1889 Dwarfism familial with muscle sp<strong>as</strong>ms<br />
1890 Dwarfism lethal type advanced bone age<br />
1891 Dwarfism Levi type<br />
1892 Dwarfism stiff joint ocular abnormalities<br />
1893 Dwarfism tall vertebrae<br />
1894 Dwarfism thin bones multiple fractures<br />
1895 Dwarfism, low-birth-weight type with unresponsiveness to growth<br />
hormone<br />
1896 Dwarfism, mental retardation <strong>and</strong> eye abnormality<br />
1897 Dwarfism, proportionate with hip dislocation<br />
1898 Dyggve-Melchior-Clausen syndrome<br />
1899 Dykes Markes Har<strong>per</strong> syndrome<br />
1900 Dysautonomia like disorder<br />
1901 Dyschondrosteosis nephritis<br />
1902 Dyschromatosis symmetrica hereditaria 1<br />
1903 Dyschromatosis universalis hereditaria<br />
1904 Dysembryopl<strong>as</strong>tic neuroepithelial tumor<br />
1905 Dysequilibrium syndrome
1906 Dysesthetic Vulvodynia<br />
1907 Dysferlinopathy<br />
1908 Dysfibrinogenemia<br />
1909 Dysgnathia complex<br />
1910 Dyskeratosis congenita<br />
1911 Dyskeratosis congenita autosomal dominant<br />
1912 Dyskeratosis congenita autosomal recessive<br />
1913 Dyskeratosis congenita X-linked<br />
1914 Dyskinesia, drug induced<br />
1915 Dysmorphism abnormal vocalization mental retardation<br />
1916 Dysmorphism cleft palate loose skin<br />
1917 Dysosteosclerosis<br />
1918 Dysostosis acral with facial <strong>and</strong> genital abnormalities<br />
1919 Dysostosis <strong>per</strong>ipheral<br />
1920 Dyspl<strong>as</strong>ia epiphysealis hemimelica<br />
1921 Dyspl<strong>as</strong>tic cortical hy<strong>per</strong>ostosis<br />
1922 Dyssegmental dyspl<strong>as</strong>ia <strong>and</strong> glaucoma<br />
1923 Dyssegmental dyspl<strong>as</strong>ia Roll<strong>and</strong>-Desbuquois type<br />
1924 Dyssegmental dyspl<strong>as</strong>ia Silverman-H<strong>and</strong>maker type<br />
1925 Dyssynergia cerebellaris myoclonica<br />
1926 Dystelephalangy<br />
1927 Dystonia 1<br />
1928 Dystonia 10<br />
1929 Dystonia 11<br />
1930 Dystonia 12<br />
1931 Dystonia 13<br />
1932 Dystonia 15, myoclonic<br />
1933 Dystonia 16<br />
1934 Dystonia 17<br />
1935 Dystonia 18<br />
1936 Dystonia 19<br />
1937 Dystonia 2, torsion, autosomal recessive<br />
1938 Dystonia 3, torsion, X-linked<br />
1939 Dystonia 4, torsion, autosomal dominant type<br />
1940 Dystonia 5, Dopa-responsive type<br />
1941 Dystonia 6, torsion<br />
1942 Dystonia 7, torsion<br />
1943 Dystonia 8<br />
1944 Dystrophic epidermolysis bullosa<br />
1945 Dystrophinopathy
1946 EAF<br />
1947 Eagle syndrome<br />
1948 Eales dise<strong>as</strong>e<br />
1949 Early-onset ataxia with oculomotor apraxia <strong>and</strong> hypoalbuminemia<br />
1950 E<strong>as</strong>tern equine encephalitis<br />
1951 Ebola virus dise<strong>as</strong>e<br />
1952 Ebstein's anomaly<br />
1953 Eccentrochondrodyspl<strong>as</strong>ia<br />
1954 Eccrine acrospiroma<br />
1955 Eccrine mucinous carcinoma<br />
1956 Eclampsia<br />
1957 Ectodermal dyspl<strong>as</strong>ia<br />
1958 Ectodermal dyspl<strong>as</strong>ia 2, hidrotic<br />
1959 Ectodermal dyspl<strong>as</strong>ia adrenal cyst<br />
1960 Ectodermal dyspl<strong>as</strong>ia alopecia preaxial polydactyly<br />
1961 Ectodermal dyspl<strong>as</strong>ia arthrogryposis diabetes mellitus<br />
1962 Ectodermal dyspl<strong>as</strong>ia Bartalos type<br />
1963 Ectodermal dyspl<strong>as</strong>ia Berlin type<br />
1964 Ectodermal dyspl<strong>as</strong>ia blindness<br />
1965 Ectodermal dyspl<strong>as</strong>ia Margarita type<br />
1966 Ectodermal dyspl<strong>as</strong>ia mental retardation CNS malformation<br />
1967 Ectodermal dyspl<strong>as</strong>ia mental retardation syndactyly<br />
1968 Ectodermal dyspl<strong>as</strong>ia neurosensory deafness<br />
1969 Ectodermal dyspl<strong>as</strong>ia skin fragility syndrome<br />
1970 Ectodermal dyspl<strong>as</strong>ia trichoodontoonychial type<br />
1971 Ectodermal dyspl<strong>as</strong>ia with natal teeth Turnpenny type<br />
1972 Ectodermal dyspl<strong>as</strong>ia, hidrotic, Christianson-Fourie type<br />
1973 Ectodermal dyspl<strong>as</strong>ia, sensorineural hearing loss, <strong>and</strong> distinctive<br />
facial features<br />
1974 Ectopia lentis, isolated autosomal recessive<br />
1975 Ectopia pupillae<br />
1976 Ectopic pregnancy<br />
1977 Ectrodactyly <strong>and</strong> ectodermal dyspl<strong>as</strong>ia without cleft lip/palate<br />
1978 Ectrodactyly cardiopathy dysmorphism<br />
1979 Ectrodactyly cleft palate syndrome<br />
1980 Ectrodactyly polydactyly<br />
1981 Ectropion inferior cleft lip <strong>and</strong> or palate<br />
1982 Edinburgh malformation syndrome<br />
1983 EEC syndrome<br />
1984 EEM syndrome
1985 Egg shaped pupils<br />
1986 Ehlers-Danlos syndrome<br />
1987 Ehlers-Danlos syndrome arthrochal<strong>as</strong>ia type<br />
1988 Ehlers-Danlos syndrome Be<strong>as</strong>ley Cohen type<br />
1989 Ehlers-Danlos syndrome dermatosparaxis type<br />
1990 Ehlers-Danlos syndrome dysfibronectinemic type<br />
1991 Ehlers-Danlos syndrome hy<strong>per</strong>mobility type<br />
1992 Ehlers-Danlos syndrome kyphoscoliotic type<br />
1993 Ehlers-Danlos syndrome progeroid type<br />
1994 Ehlers-Danlos syndrome type 5<br />
1995 Ehlers-Danlos syndrome v<strong>as</strong>cular type<br />
1996 Ehlers-Danlos syndrome, cl<strong>as</strong>sic type<br />
1997 Ehlers-Danlos-like syndrome due to ten<strong>as</strong>cin-X deficiency<br />
1998 Ehrlichiosis<br />
1999 Eisenmenger syndrome<br />
2000 El<strong>as</strong>tosis <strong>per</strong>forans serpiginosa<br />
2001 Elective mutism<br />
2002 Elliott Ludman Teebi syndrome<br />
2003 Ellis Yale Winter syndrome<br />
2004 Ellis-Van Creveld syndrome<br />
2005 Emanuel syndrome<br />
2006 Embryonal carcinoma<br />
2007 Embryonal sarcoma<br />
2008 Emerinopathy<br />
2009 Emery-Dreifuss muscular dystrophy<br />
2010 Emery-Dreifuss muscular dystrophy, dominant type<br />
2011 Emery-Dreifuss muscular dystrophy, X-linked<br />
2012 Empty sella syndrome<br />
2013 Enamel hypopl<strong>as</strong>ia cataract hydrocephaly<br />
2014 Encephalitis lethargica<br />
2015 Encephalocele<br />
2016 Encephalocele anencephaly<br />
2017 Encephalocraniocutaneous lipomatosis<br />
2018 Encephalomyopathy<br />
2019 Encephalopathy intracranial calcification growth hormone<br />
deficiency microcephaly retinal degeneration<br />
2020 Encephalopathy recurrent <strong>of</strong> childhood<br />
2021 Enchondroma<br />
2022 Enchondromatosis dwarfism deafness<br />
2023 Endemic Kaposi sarcoma
2024 Endocardial fibroel<strong>as</strong>tosis<br />
2025 Endolymphatic sac tumor<br />
2026 Endometrial stromal sarcoma<br />
2027 Endomyocardial fibroel<strong>as</strong>tosis<br />
2028 Endomyocardial fibrosis<br />
2029 Eng Strom syndrome<br />
2030 Engelhard Yatziv syndrome<br />
2031 Enlarged vestibular aqueduct syndrome<br />
2032 Enol<strong>as</strong>e deficiency type 1<br />
2033 Enol<strong>as</strong>e deficiency type 2<br />
2034 Enol<strong>as</strong>e deficiency type 3<br />
2035 Enol<strong>as</strong>e deficiency type 4<br />
2036 Enterobi<strong>as</strong>is<br />
2037 Enteropathica<br />
2038 Enteropathy-<strong>as</strong>sociated T-cell lymphoma<br />
2039 Enterovirus antenatal infection<br />
2040 Enthesitis-related juvenile idiopathic arthritis<br />
2041 Envenomization by bothrops lanceolatus<br />
2042 Eosinophilia-myalgia syndrome<br />
2043 Eosinophilic cryptitis<br />
2044 Eosinophilic cystitis<br />
2045 Eosinophilic enteropathy<br />
2046 Eosinophilic f<strong>as</strong>ciitis<br />
2047 Eosinophilic pustular folliculitis<br />
2048 Ependymobl<strong>as</strong>toma<br />
2049 Ependymoma<br />
2050 Epidermal nevus vitamin D resistant rickets<br />
2051 Epidermodyspl<strong>as</strong>ia verruciformis<br />
2052 Epidermolysa bullosa simplex with muscular dystrophy<br />
2053 Epidermolysis bullosa<br />
2054 Epidermolysis bullosa acquisita<br />
2055 Epidermolysis bullosa simplex<br />
2056 Epidermolysis bullosa simplex with mottled pigmentation<br />
2057 Epidermolysis bullosa simplex, Dowling-Meara type<br />
2058 Epidermolysis bullosa simplex, generalized<br />
2059 Epidermolysis bullosa simplex, localized<br />
2060 Epidermolysis bullosa simplex, Ogna type<br />
2061 Epidermolysis bullosa, late-onset localized junctional, with mental<br />
retardation<br />
2062 Epidermolysis bullosa, lethal acantholytic
2063 Epidermolysis bullosa, pretibial<br />
2064 Epidermolytic hy<strong>per</strong>keratosis<br />
2065 Epilepsy benign neonatal dominant form<br />
2066 Epilepsy benign neonatal recessive form<br />
2067 Epilepsy juvenile absence<br />
2068 Epilepsy mental deterioration Finnish type<br />
2069 Epilepsy occipital calcifications<br />
2070 Epilepsy progressive myoclonic type 3<br />
2071 Epilepsy telangiect<strong>as</strong>ia<br />
2072 Epilepsy, benign occipital<br />
2073 Epilepsy, female restricted, with mental retardation<br />
2074 Epilepsy, nocturnal, frontal lobe type<br />
2075 Epilepsy, partial, familial<br />
2076 Epilepsy, rol<strong>and</strong>ic with paroxysmal exercise-induced dystonia <strong>and</strong><br />
writer's cramp<br />
2077 Epileptic encephalopathy Lennox-G<strong>as</strong>taut type<br />
2078 Epimetaphyseal dyspl<strong>as</strong>ia cataract<br />
2079 Epimetaphyseal skeletal dyspl<strong>as</strong>ia<br />
2080 Epiphyseal dyspl<strong>as</strong>ia dysmorphism camptodactyly<br />
2081 Epiphyseal dyspl<strong>as</strong>ia hearing loss dysmorphism<br />
2082 Epiphyseal dyspl<strong>as</strong>ia multiple with early-onset diabetes mellitus<br />
2083 Episodic ataxia<br />
2084 Episodic ataxia with nystagmus<br />
2085 Epithelial b<strong>as</strong>ement membrane corneal dystrophy<br />
2086 Epithelial-myoepithelial carcinoma<br />
2087 Epithelioid sarcoma<br />
2088 Epitheliopathy, acute posterior multifocal placoid pigment<br />
2089 Erdheim-Chester dise<strong>as</strong>e<br />
2090 Ermine phenotype<br />
2091 Erosive pustular dermatosis <strong>of</strong> the scalp<br />
2092 Erysipel<strong>as</strong><br />
2093 Erythema elevatum diutinum<br />
2094 Erythema multiforme<br />
2095 Erythema nodosum, idiopathic<br />
2096 Erythroderma desquamativa <strong>of</strong> Leiner<br />
2097 Erythroderma lethal congenital<br />
2098 Erythrokeratodermia variabilis et progressiva<br />
2099 Erythromelalgia<br />
2100 Erythroplakia<br />
2101 Erythropoietic protoporphyria
2102 Erythropoietic uroporphyria <strong>as</strong>sociated with myeloid malignancy<br />
2103 Escher Hirt syndrome<br />
2104 Escobar syndrome, type B<br />
2105 Esophageal atresia<br />
2106 Esophageal atresia coloboma talipes<br />
2107 Esophageal cancer<br />
2108 Esophageal cancer, childhood<br />
2109 Esophageal varices<br />
2110 Esotropia<br />
2111 Essential thrombocythemia<br />
2112 Essential tremor<br />
2113 Esthesioneurobl<strong>as</strong>toma<br />
2114 Ethylmalonic encephalopathy<br />
2115 Eunuchoidism familial hypogonadotropic<br />
2116 Evans syndrome<br />
2117 Ewing's family <strong>of</strong> tumors<br />
2118 Ewing's sarcoma<br />
2119 Exencephaly<br />
2120 Exercise induced anaphylaxis<br />
2121 Exercise-induced hy<strong>per</strong>insulinemic hypoglycemia<br />
2122 Exertional headache<br />
2123 Exfoliative dermatitis<br />
2124 Exogenous lipoid pneumonia<br />
2125 Exogenous ochronosis<br />
2126 Exostoses anetodermia brachydactyly type E<br />
2127 Exostoses, multiple, type 1<br />
2128 Exostoses, multiple, type 2<br />
2129 Exostoses, multiple, type 3<br />
2130 Exstrophy <strong>of</strong> the bladder<br />
2131 Exstrophy <strong>of</strong> the bladder-epispadi<strong>as</strong><br />
2132 Exsudative retinopathy familial, autosomal dominant<br />
2133 Exsudative retinopathy familial, autosomal recessive<br />
2134 Exsudative retinopathy familial, X-linked, recessive<br />
2135 Exsudative retinopathy, familial<br />
2136 Extracranial germ cell tumor, childhood<br />
2137 Extragonadal germ cell tumor<br />
2138 Extr<strong>as</strong>ystoles short stature hy<strong>per</strong>pigmentation microcephaly<br />
2139 Eyebrows duplication <strong>of</strong>, with stretchable skin <strong>and</strong> syndactyly<br />
2140 Fabry dise<strong>as</strong>e<br />
2141 FACES syndrome
2142 Facial <strong>as</strong>ymetry temporal seizures<br />
2143 Facial clefting corpus callosum agenesis<br />
2144 Facial ectodermal dyspl<strong>as</strong>ia<br />
2145 Facies unusual arthrogryposis advanced skeletal malformations<br />
2146 Facio digito genital syndrome recessive form<br />
2147 Facio skeletal genital syndrome Rippberger type<br />
2148 Facio thoraco genital syndrome<br />
2149 Faciocardiomelic dyspl<strong>as</strong>ia lethal<br />
2150 Faciocardiorenal syndrome<br />
2151 Faciom<strong>and</strong>ibular myoclonus, nocturnal<br />
2152 Facioscapulohumeral muscular dystrophy<br />
2153 Factor 2 deficiency<br />
2154 Factor V deficiency<br />
2155 Factor VII deficiency<br />
2156 Factor X deficiency<br />
2157 Factor XI deficiency, congenital<br />
2158 Factor XII deficiency<br />
2159 Factor XIII deficiency<br />
2160 Fairbank dise<strong>as</strong>e<br />
2161 Fallopian tube cancer<br />
2162 Fallot complex with severe mental <strong>and</strong> growth retardation<br />
2163 Familial adenomatous polyposis<br />
2164 Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago<br />
without arterial hy<strong>per</strong>tension<br />
2165 Familial av<strong>as</strong>cular necrosis <strong>of</strong> the femoral head<br />
2166 Familial b<strong>and</strong> heterotopia<br />
2167 Familial bilateral striatal necrosis<br />
2168 Familial capillaro-venous leptomeningeal angiomatosis<br />
2169 Familial cold autoinflammatory syndrome<br />
2170 Familial colorectal cancer<br />
2171 Familial congenital fourth cranial nerve palsy<br />
2172 Familial cylindromatosis<br />
2173 Familial deafness<br />
2174 Familial dermographism<br />
2175 Familial dilated cardiomyopathy<br />
2176 Familial dysautonomia<br />
2177 Familial encephalopathy with neuroserpin inclusion bodies<br />
2178 Familial eosinophilia<br />
2179 Familial erythema nodosum<br />
2180 Familial erythrocytosis, 1
2181 Familial exudative vitreoretinopathy<br />
2182 Familial glucocorticoid deficiency<br />
2183 Familial HDL deficiency<br />
2184 Familial hemiplegic migraine<br />
2185 Familial hemiplegic migraine type 1<br />
2186 Familial hemiplegic migraine type 2<br />
2187 Familial hemiplegic migraine type 3<br />
2188 Familial hy<strong>per</strong>aldosteronism type 2<br />
2189 Familial hy<strong>per</strong>insulinism<br />
2190 Familial hy<strong>per</strong>lipo-proteinemia type 1<br />
2191 Familial hy<strong>per</strong>secretion <strong>of</strong> adrenal <strong>and</strong>rogens<br />
2192 Familial hy<strong>per</strong>sensitivity pneumonitis<br />
2193 Familial hy<strong>per</strong>thyroidism due to mutations in TSH receptor<br />
2194 Familial hy<strong>per</strong>trophic cardiomyopathy<br />
2195 Familial hypobetalipoproteinemia<br />
2196 Familial hypocalciuric hy<strong>per</strong>calcemia<br />
2197 Familial hypocalciuric hy<strong>per</strong>calcemia type 1<br />
2198 Familial hypocalciuric hy<strong>per</strong>calcemia type 2<br />
2199 Familial hypocalciuric hy<strong>per</strong>calcemia type 3<br />
2200 Familial hypopituitarism<br />
2201 Familial hypothyroidism<br />
2202 Familial idiopathic b<strong>as</strong>al ganglia calcification<br />
2203 Familial interstitial fibrosis<br />
2204 Familial isolated hy<strong>per</strong>parathyroidism<br />
2205 Familial isolated pituitary adenoma<br />
2206 Familial juvenile hy<strong>per</strong>uricaemic nephropathy<br />
2207 Familial Mediterranean fever<br />
2208 Familial multiple trichodiscom<strong>as</strong><br />
2209 Familial myel<strong>of</strong>ibrosis<br />
2210 Familial n<strong>as</strong>al acilia<br />
2211 Familial neurocardiogenic syncope<br />
2212 Familial opposable triphalangeal thumbs duplication<br />
2213 Familial partial paralysis<br />
2214 Familial <strong>per</strong>iodic paralysis<br />
2215 Familial platelet disorder with <strong>as</strong>sociated myeloid malignancy<br />
2216 Familial porencephaly<br />
2217 Familial prostate cancer<br />
2218 Familial pulmonary arterial hy<strong>per</strong>tension leucopenia <strong>and</strong> atrial<br />
septal defect<br />
2219 Familial renal cell carcinoma
2220 Familial streblodactyly<br />
2221 Familial thoracic aortic aneurysm <strong>and</strong> dissection<br />
2222 Familial transthyretin amyloidosis<br />
2223 Familial Treacher Collins syndrome<br />
2224 Familial tumoral calcinosis<br />
2225 Familial ventricular tachycardia<br />
2226 Familial visceral myopathy with external ophthalmoplegia<br />
2227 Familial Wilms tumor 2<br />
2228 Fanconi anemia<br />
2229 Fanconi Bickel syndrome<br />
2230 Fanconi ichthyosis dysmorphism<br />
2231 Fanconi like syndrome<br />
2232 Fanconi renotubular syndrome<br />
2233 Fara Chlupackova syndrome<br />
2234 Farber's dise<strong>as</strong>e<br />
2235 Farmer's lung<br />
2236 F<strong>as</strong>cioli<strong>as</strong>is<br />
2237 Fatal familial insomnia<br />
2238 Fatal infantile encephalomyopathy<br />
2239 Fatty acid hydroxyl<strong>as</strong>e-<strong>as</strong>sociated neurodegeneration<br />
2240 Faulk Epstein Jones syndrome<br />
2241 Faye-Petersen-Ward-Carey syndrome<br />
2242 Fazio Londe syndrome<br />
2243 Febrile Ulceronecrotic Mucha-Habermann dise<strong>as</strong>e<br />
2244 Feigenbaum Bergeron Richardson syndrome<br />
2245 Feigenbaum Bergeron syndrome<br />
2246 Feingold syndrome<br />
2247 Feingold Trainer syndrome<br />
2248 Felty's syndrome<br />
2249 Femoral facial syndrome<br />
2250 Femur bifid with monodactylous ectrodactyly<br />
2251 Femur fibula ulna syndrome<br />
2252 Fenton Wilkinson Toselano syndrome<br />
2253 Fertile eunuch syndrome<br />
2254 Fetal akinesia deformation sequence<br />
2255 Fetal akinesia syndrome X-linked<br />
2256 Fetal Alcohol Spectrum Disorders<br />
2257 Fetal aminopterin syndrome<br />
2258 Fetal <strong>and</strong> neonatal alloimmune thrombocytopenia<br />
2259 Fetal antihy<strong>per</strong>tensive drugs syndrome
2260 Fetal brain disruption sequence<br />
2261 Fetal diethylstilbestrol syndrome<br />
2262 Fetal edema<br />
2263 Fetal enterovirus syndrome<br />
2264 Fetal hydantoin syndrome<br />
2265 Fetal indomethacin syndrome<br />
2266 Fetal iodine syndrome<br />
2267 Fetal left ventricular aneurysm<br />
2268 Fetal macrosomia<br />
2269 Fetal methimazole syndrome<br />
2270 Fetal methyl mercury syndrome<br />
2271 Fetal minoxidil syndrome<br />
2272 Fetal parainfluenza virus type 3 syndrome<br />
2273 Fetal parvovirus syndrome<br />
2274 Fetal phenothiazine syndrome<br />
2275 Fetal retinoid syndrome<br />
2276 Fetal thalidomide syndrome<br />
2277 Fetal valproate syndrome<br />
2278 Fetal warfarin syndrome<br />
2279 FG syndrome<br />
2280 FG syndrome 2<br />
2281 FG syndrome 3<br />
2282 FG syndrome 4<br />
2283 Fibrinogen deficiency, congenital<br />
2284 Fibrocartilaginous embolism<br />
2285 Fibrochondrogenesis<br />
2286 Fibrodyspl<strong>as</strong>ia ossificans progressiva<br />
2287 Fibromatosis multiple non ossifying<br />
2288 Fibrosarcoma<br />
2289 Fibrosing medi<strong>as</strong>tinitis<br />
2290 Fibrous dyspl<strong>as</strong>ia<br />
2291 Fibula apl<strong>as</strong>ia complex brachydactyly<br />
2292 Fibular apl<strong>as</strong>ia<br />
2293 Fibular apl<strong>as</strong>ia ectrodactyly<br />
2294 Fibular apl<strong>as</strong>ia, tibial campomelia, <strong>and</strong> oligosyndactyly syndrome<br />
2295 Fibular hypopl<strong>as</strong>ia <strong>and</strong> complex brachydactyly<br />
2296 Fibular hypopl<strong>as</strong>ia scapulo pelvic dyspl<strong>as</strong>ia absent<br />
2297 Filippi syndrome<br />
2298 Fine-Lubinsky syndrome
2299 Finger locking recurrent with intrauterine growth retardation <strong>and</strong><br />
proportionate short stature<br />
2300 Fish-eye dise<strong>as</strong>e<br />
2301 Fitz-Hugh-Curtis syndrome<br />
2302 Fitzsimmons syndrome<br />
2303 Fitzsimmons Walson Mellor syndrome<br />
2304 Fitzsimmons-Guilbert syndrome<br />
2305 Flat umbilicus familial<br />
2306 Flavimon<strong>as</strong> oryzihabitans<br />
2307 Floating-Harbor syndrome<br />
2308 Florid cemento-osseous dyspl<strong>as</strong>ia<br />
2309 Florid cystic endosalpingiosis <strong>of</strong> the uterus<br />
2310 Florid papillomatosis <strong>of</strong> the nipple<br />
2311 FLOTCH syndrome<br />
2312 Flynn Aird syndrome<br />
2313 Focal alopecia congenital megalencephaly<br />
2314 Focal cortical dyspl<strong>as</strong>ia <strong>of</strong> Taylor<br />
2315 Focal dermal hypopl<strong>as</strong>ia<br />
2316 Focal dystonia<br />
2317 Focal facial dermal dyspl<strong>as</strong>ia<br />
2318 Focal or multifocal malformations in neuronal migration<br />
2319 Foix Chavany Marie syndrome<br />
2320 Follicle-stimulating hormone deficiency, isolated<br />
2321 Follicular dendritic cell tumor<br />
2322 Follicular lymphoma<br />
2323 Follicular lymphoreticuloma<br />
2324 Fontaine Farriaux Blanckaert syndrome<br />
2325 Forbes Albright syndrome<br />
2326 Formaldehyde poisoning<br />
2327 Fountain syndrome<br />
2328 Fournier gangrene<br />
2329 Fowler's syndrome<br />
2330 Fox-Fordyce dise<strong>as</strong>e<br />
2331 Fragile X syndrome<br />
2332 Fragile X syndrome type 1<br />
2333 Fragile X syndrome type 2<br />
2334 Fragile X syndrome type 3<br />
2335 Fragile XE syndrome<br />
2336 Franceschini Vardeu Guala syndrome<br />
2337 Franek Bocker kahlen syndrome
2338 Frank Ter Haar syndrome<br />
2339 Fr<strong>as</strong>er Jequier Chen syndrome<br />
2340 Fr<strong>as</strong>er like syndrome<br />
2341 Fr<strong>as</strong>er syndrome<br />
2342 Fr<strong>as</strong>ier syndrome<br />
2343 FRAXD<br />
2344 Free sialic acid storage dise<strong>as</strong>e<br />
2345 Freeman Sheldon syndrome<br />
2346 Freiberg's dise<strong>as</strong>e<br />
2347 Freire-Maia odontotrichomelic syndrome<br />
2348 Frenkel Russe syndrome<br />
2349 Frey's syndrome<br />
2350 Fri<strong>as</strong> syndrome<br />
2351 Friedel Heid Grosshans syndrome<br />
2352 Friedman Goodman syndrome<br />
2353 Friedreich ataxia<br />
2354 Friedreich ataxia congenital glaucoma<br />
2355 Frints De Smet Fabry Fryns syndrome<br />
2356 Froelich syndrome<br />
2357 Frontal fibrosing alopecia<br />
2358 Fronto n<strong>as</strong>al malformation cloacal exstrophy<br />
2359 Front<strong>of</strong>acion<strong>as</strong>al dyspl<strong>as</strong>ia<br />
2360 Frontometaphyseal dyspl<strong>as</strong>ia<br />
2361 Fronton<strong>as</strong>al dyspl<strong>as</strong>ia<br />
2362 Fronton<strong>as</strong>al dyspl<strong>as</strong>ia acromelic<br />
2363 Fronton<strong>as</strong>al dyspl<strong>as</strong>ia Klippel Feil syndrome<br />
2364 Fronton<strong>as</strong>al dyspl<strong>as</strong>ia phocomelic up<strong>per</strong> limbs<br />
2365 Frontotemporal dementia<br />
2366 Frontotemporal dementia, ubiquitin-positive<br />
2367 Froster-Huch syndrome<br />
2368 Fructose-1,6-bisphosphat<strong>as</strong>e deficiency<br />
2369 Fryns Fabry Remans syndrome<br />
2370 Fryns H<strong>of</strong>kens Fabry syndrome<br />
2371 Fryns smeets thiry syndrome<br />
2372 Fryns syndrome<br />
2373 Fuchs atrophia gyrata chorioideae et retinae<br />
2374 Fuchs heterochromic iridocyclitis<br />
2375 Fucosidosis<br />
2376 Fucosidosis type 1<br />
2377 Fuhrmann syndrome
2378 Fukuda Miyanomae Nakata syndrome<br />
2379 Fukuyama type muscular dystrophy<br />
2380 Fumar<strong>as</strong>e deficiency<br />
2381 Functioning pancreatic endocrine tumor<br />
2382 Fundus dystrophy, pseudoinflammatory, <strong>of</strong> Sorsby<br />
2383 Fuqua Berkovitz syndrome<br />
2384 Furunculous myi<strong>as</strong>is<br />
2385 Fused m<strong>and</strong>ibular incisors<br />
2386 Galactocele<br />
2387 Galactokin<strong>as</strong>e deficiency<br />
2388 Galactorrhoea-Hy<strong>per</strong>prolactinaemia<br />
2389 Galactose epimer<strong>as</strong>e deficiency<br />
2390 Galactosemia<br />
2391 Galactosialidosis<br />
2392 Gall bladder cancer<br />
2393 Game Friedman Paradice syndrome<br />
2394 Gamma aminobutyric acid transamin<strong>as</strong>e deficiency<br />
2395 Gamma heavy chain dise<strong>as</strong>e<br />
2396 Gamma-cystathion<strong>as</strong>e deficiency<br />
2397 Gangliocytoma<br />
2398 Ganglioglioma<br />
2399 GAPO syndrome<br />
2400 Gardner Morrison Abbot syndrome<br />
2401 Gardner syndrome<br />
2402 Gardner-Diamond syndrome<br />
2403 Garret Tripp syndrome<br />
2404 G<strong>as</strong> bloat syndrome<br />
2405 G<strong>as</strong>tric duplication cysts<br />
2406 G<strong>as</strong>tric lymphoma<br />
2407 G<strong>as</strong>trocutaneous syndrome<br />
2408 G<strong>as</strong>tro-enteropancreatic neuroendocrine tumor<br />
2409 G<strong>as</strong>trointestinal Stromal Tumors<br />
2410 G<strong>as</strong>troschisis<br />
2411 Gaucher dise<strong>as</strong>e<br />
2412 Gaucher dise<strong>as</strong>e <strong>per</strong>inatal lethal<br />
2413 Gaucher dise<strong>as</strong>e type 1<br />
2414 Gaucher dise<strong>as</strong>e type 2<br />
2415 Gaucher dise<strong>as</strong>e type 3<br />
2416 Gaucher ichthyosis restrictive dermopathy<br />
2417 Gaucher-like dise<strong>as</strong>e
2418 Gay Feinmesser Cohen syndrome<br />
2419 Gelatinous <strong>as</strong>cites<br />
2420 Geleophysic dwarfism<br />
2421 Gemignani syndrome<br />
2422 Genee-Wiedemann syndrome<br />
2423 Generalized dominant dystrophic epidermolysis bullosa<br />
2424 Generalized resistance to thyroid hormone<br />
2425 Generalized torsion dystonia<br />
2426 Genetic reflex epilepsy<br />
2427 Geniosp<strong>as</strong>m<br />
2428 Genital dwarfism<br />
2429 Genital dwarfism, Turner type<br />
2430 Genito palato cardiac syndrome<br />
2431 Genitopatellar syndrome<br />
2432 Genoa syndrome<br />
2433 Genochondromatosis<br />
2434 Genu valgum, st Helena familial<br />
2435 Geographic tongue<br />
2436 German syndrome<br />
2437 Germinoma<br />
2438 Geroderma osteodyspl<strong>as</strong>ticum<br />
2439 Gershinibaruch Leibo syndrome<br />
2440 Gershoni-Baruch syndrome<br />
2441 Gerstmann syndrome<br />
2442 Gerstmann-Straussler-Scheinker dise<strong>as</strong>e<br />
2443 Gestational diabetes insipidus<br />
2444 Gestational trophobl<strong>as</strong>tic tumor<br />
2445 Ghosal hematodiaphyseal dyspl<strong>as</strong>ia syndrome<br />
2446 Ghose Sachdev Kumar syndrome<br />
2447 Gianotti Crosti syndrome<br />
2448 Giant axonal neuropathy<br />
2449 Giant cell arteritis<br />
2450 Giant cell myocarditis<br />
2451 Giant congenital nevus<br />
2452 Giant ganglionic hy<strong>per</strong>pl<strong>as</strong>ia<br />
2453 Giant mammary hamartoma<br />
2454 Giant papillary conjunctivitis<br />
2455 Giant platelet syndrome<br />
2456 Gigantism<br />
2457 Gigantism advanced bone age hoarse cry
2458 Gigantom<strong>as</strong>tia<br />
2459 Gingival fibromatosis with distinctive facies<br />
2460 Gingival fibromatosis with hy<strong>per</strong>trichosis<br />
2461 Gingival fibromatosis, 1<br />
2462 Gingival fibromatosis, 2<br />
2463 Gingival fibromatosis, 3<br />
2464 Gingival fibromatosis, 4<br />
2465 Gitelman syndrome<br />
2466 Gl<strong>and</strong>ers<br />
2467 Glanzmann thromb<strong>as</strong>thenia<br />
2468 Gl<strong>as</strong>s Chapman Hockley syndrome<br />
2469 Gl<strong>as</strong>sy cell carcinoma <strong>of</strong> the cervix<br />
2470 Glaucoma 3 primary infantile B<br />
2471 Glaucoma iridogoniodysgenesia<br />
2472 Glaucoma sleep apnea<br />
2473 Glaucoma type 1C<br />
2474 Glaucoma, congenital<br />
2475 Glaucoma, Ectopia, Microspherophakia, Stiff joints <strong>and</strong> Short<br />
stature syndrome<br />
2476 Glaucoma, hereditary<br />
2477 Glaucoma, hereditary adult type 1A<br />
2478 Glaucoma, hereditary juvenile type 1B<br />
2479 Glaucoma, primary infantile type 3A<br />
2480 Gliobl<strong>as</strong>toma<br />
2481 Glioma<br />
2482 Gliomatosis cerebri<br />
2483 Gliosarcoma<br />
2484 Global disaccharide intolerance<br />
2485 Glomerulonephritis<br />
2486 Glomerulonephritis with sparse hair <strong>and</strong> telangiect<strong>as</strong>es<br />
2487 Glomerulopathy with fibronectin deposits 1<br />
2488 Glomerulopathy with fibronectin deposits 2<br />
2489 Glomus jugulare tumors<br />
2490 Glomus tympanicum tumor<br />
2491 Glomus vagale tumors<br />
2492 Glossodynia<br />
2493 Glossopalatine ankylosis micrognathia ear anomalies<br />
2494 Glossopharyngeal neuralgia<br />
2495 Glucagonoma<br />
2496 Glucagonoma syndrome
2497 Glucocorticoid resistance<br />
2498 Glucocorticoid-remediable aldosteronism<br />
2499 Glucose transporter type 1 deficiency syndrome<br />
2500 Glucose-6-phosphate dehydrogen<strong>as</strong>e deficiency<br />
2501 Glucose-6-phosphate transloc<strong>as</strong>e deficiency<br />
2502 Glucose-galactose malabsorption<br />
2503 Glucosephosphate isomer<strong>as</strong>e deficiency<br />
2504 Glucosid<strong>as</strong>e acid-1,4-alpha deficiency<br />
2505 Glutamate decarboxyl<strong>as</strong>e deficiency<br />
2506 Glutamate formiminotransfer<strong>as</strong>e deficiency<br />
2507 Glutamine deficiency, congenital<br />
2508 Glutaric acidemia type I<br />
2509 Glutaric acidemia type II<br />
2510 Glutathione synthet<strong>as</strong>e deficiency<br />
2511 Glutathionuria<br />
2512 Glyceraldehyde-3-phosphate dehydrogen<strong>as</strong>e deficiency<br />
2513 Glycine encephalopathy<br />
2514 Glycine N-methyltransfer<strong>as</strong>e deficiency<br />
2515 Glycogen storage dise<strong>as</strong>e 8<br />
2516 Glycogen storage dise<strong>as</strong>e type 0<br />
2517 Glycogen storage dise<strong>as</strong>e type 0, muscle<br />
2518 Glycogen storage dise<strong>as</strong>e type 12<br />
2519 Glycogen storage dise<strong>as</strong>e type 13<br />
2520 Glycogen storage dise<strong>as</strong>e type 14<br />
2521 Glycogen storage dise<strong>as</strong>e type 1A<br />
2522 Glycogen storage dise<strong>as</strong>e type 1B<br />
2523 Glycogen storage dise<strong>as</strong>e type 2<br />
2524 Glycogen storage dise<strong>as</strong>e type 3<br />
2525 Glycogen storage dise<strong>as</strong>e type 4<br />
2526 Glycogen storage dise<strong>as</strong>e type 5<br />
2527 Glycogen storage dise<strong>as</strong>e type 6<br />
2528 Glycogen storage dise<strong>as</strong>e type 6, due to phosphorylation<br />
2529 Glycogen storage dise<strong>as</strong>e type 7<br />
2530 Glycoproteinosis<br />
2531 Glycosylphosphatidylinositol deficiency<br />
2532 GM1 gangliosidosis<br />
2533 GM1 gangliosidosis type 1<br />
2534 GM1 gangliosidosis type 2<br />
2535 GM1 gangliosidosis type 3<br />
2536 GM2 gangliosidosis, 0 variant
2537 GM2-gangliosidosis, B, B1, AB variant<br />
2538 Gms syndrome<br />
2539 Gnathostoma Infection<br />
2540 Goblet cell carcinoma<br />
2541 Goldberg-Shprintzen megacolon syndrome<br />
2542 Goldenhar dise<strong>as</strong>e<br />
2543 Goldmann-Favre syndrome<br />
2544 Gollop Coates syndrome<br />
2545 GOMBO syndrome<br />
2546 Gomez Lopez Hern<strong>and</strong>ez syndrome<br />
2547 Gonadal dysgenesis<br />
2548 Gonadal dysgenesis mixed<br />
2549 Gonadal dysgenesis Turner type<br />
2550 Gonadal dysgenesis XY type <strong>as</strong>sociated anomalies<br />
2551 Gonadal dysgenesis, XX type<br />
2552 Goniodysgenesis mental retardation short stature<br />
2553 Gonococcal conjunctivitis<br />
2554 Good syndrome<br />
2555 Goodman syndrome<br />
2556 Goodp<strong>as</strong>ture syndrome<br />
2557 Gordon syndrome<br />
2558 Gorham's dise<strong>as</strong>e<br />
2559 Gorlin Bushkell Jensen syndrome<br />
2560 Gorlin Chaudhry Moss syndrome<br />
2561 Gouty nephropathy, familial<br />
2562 Gracile bone dyspl<strong>as</strong>ia<br />
2563 GRACILE syndrome<br />
2564 Graham Boyle Troxell syndrome<br />
2565 Gr<strong>and</strong> Kaine Fulling syndrome<br />
2566 Grant syndrome<br />
2567 Granulocytopenia<br />
2568 Granuloma annulare<br />
2569 Granuloma Inguinale<br />
2570 Granulom<strong>as</strong>, congenital cerebral<br />
2571 Granulomatous hypophysitis<br />
2572 Granulomatous rosacea<br />
2573 Granulomatous slack skin dise<strong>as</strong>e<br />
2574 Granulosa cell tumor <strong>of</strong> the ovary<br />
2575 Graphite Pneumoconiosis<br />
2576 Graves' dise<strong>as</strong>e
2577 Gray platelet syndrome<br />
2578 Gray zone lymphoma<br />
2579 Green S<strong>and</strong>ford Davison syndrome<br />
2580 Greig cephalopolysyndactyly syndrome<br />
2581 Griscelli syndrome<br />
2582 Griscelli syndrome type 1<br />
2583 Griscelli syndrome type 2<br />
2584 Griscelli syndrome type 3<br />
2585 Grix Blankenship Peterson syndrome<br />
2586 Groenouw type I corneal dystrophy<br />
2587 Groll Hirschowitz syndrome<br />
2588 Group B strep dise<strong>as</strong>e in newborns<br />
2589 Growth <strong>and</strong> mental retardation, m<strong>and</strong>ibul<strong>of</strong>acial dysostosis,<br />
microcephaly, <strong>and</strong> cleft palate<br />
2590 Growth deficiency brachydactyly unusual facies<br />
2591 Growth hormone deficiency<br />
2592 Growth hormone insensitivity with immunodeficiency<br />
2593 Growth retardation alopecia pseudoanodontia optic<br />
2594 Growth retardation hydrocephaly lung hypopl<strong>as</strong>ia<br />
2595 Growth retardation mental retardation phalangeal hypopl<strong>as</strong>ia<br />
2596 Grubben de Cock Borghgraef syndrome<br />
2597 GTP cyclohydrol<strong>as</strong>e I deficiency<br />
2598 Guanidinoacetate methyltransfer<strong>as</strong>e deficiency<br />
2599 Guillain-Barre syndrome<br />
2600 Guizar V<strong>as</strong>quez Sanchez Manzano syndrome<br />
2601 Gupta Patton syndrome<br />
2602 Gurrieri syndrome<br />
2603 Guttate psori<strong>as</strong>is<br />
2604 Gyn<strong>and</strong>robl<strong>as</strong>toma<br />
2605 Gyrate atrophy <strong>of</strong> choroid <strong>and</strong> retina<br />
2606 Haemophilus influenzae<br />
2607 Hailey-Hailey dise<strong>as</strong>e<br />
2608 Haim-Munk syndrome<br />
2609 Hair defect with photosensitivity <strong>and</strong> mental retardation<br />
2610 Hairy cell leukemia<br />
2611 Hairy elbows<br />
2612 Hairy nose tip<br />
2613 Hairy palms <strong>and</strong> soles<br />
2614 Hairy tongue<br />
2615 Hajdu-Cheney syndrome
2616 Halal Setton Wang syndrome<br />
2617 Halal syndrome<br />
2618 Hall Riggs mental retardation syndrome<br />
2619 Hallermann-Streiff syndrome<br />
2620 Halo nevi<br />
2621 Hamanishi Ueba Tsuji syndrome<br />
2622 H<strong>and</strong> <strong>and</strong> foot deformity with flat facies<br />
2623 H<strong>and</strong> foot uterus syndrome<br />
2624 H<strong>and</strong>-Schuller-Christian dise<strong>as</strong>e<br />
2625 Hanhart syndrome<br />
2626 Hansen's dise<strong>as</strong>e<br />
2627 Hantavirus pulmonary syndrome<br />
2628 Hard skin syndrome Parana type<br />
2629 Hardikar syndrome<br />
2630 Harding ataxia<br />
2631 Harlequin ichthyosis<br />
2632 Harlequin syndrome<br />
2633 Harrod Doman Keele syndrome<br />
2634 Hartnup dise<strong>as</strong>e<br />
2635 H<strong>as</strong>himoto-Pritzker syndrome<br />
2636 H<strong>as</strong>himoto's encephalitis<br />
2637 Hawkinsinuria<br />
2638 Hay-Wells syndrome<br />
2639 Heart defect, tongue hamartoma <strong>and</strong> polysyndactyly<br />
2640 Heart tumor<br />
2641 Heart-h<strong>and</strong> syndrome, Slovenian type<br />
2642 Heart-h<strong>and</strong> syndrome,Spanish type<br />
2643 Heavy metal poisoning<br />
2644 HEC syndrome<br />
2645 Heinz body anemi<strong>as</strong><br />
2646 HELLP syndrome<br />
2647 Helminthi<strong>as</strong>is<br />
2648 Hemangiobl<strong>as</strong>toma<br />
2649 Hemangioendothelioma<br />
2650 Hemangioma thrombocytopenia syndrome<br />
2651 Hemangiomatosis, familial pulmonary capillary<br />
2652 Hemangio<strong>per</strong>icytoma<br />
2653 Hemeralopia, congenital essential<br />
2654 Hemeralopia, familial<br />
2655 Hemi 3 syndrome
2656 Hemicrania continua<br />
2657 Hemifacial atrophy agenesis <strong>of</strong> the caudate nucleus<br />
2658 Hemifacial hy<strong>per</strong>pl<strong>as</strong>ia strabismus<br />
2659 Hemifacial microsomia<br />
2660 Hemifacial myohy<strong>per</strong>pl<strong>as</strong>ia<br />
2661 Hemihy<strong>per</strong>trophy intestinal web corneal opacity<br />
2662 Hemimegalencephaly<br />
2663 Hemiplegia<br />
2664 Hemiplegic migraine<br />
2665 Hemochromatosis type 2<br />
2666 Hemochromatosis type 3<br />
2667 Hemochromatosis type 4<br />
2668 Hemoglobin C dise<strong>as</strong>e<br />
2669 Hemoglobin E dise<strong>as</strong>e<br />
2670 Hemoglobin SC dise<strong>as</strong>e<br />
2671 Hemoglobin sickle-beta thal<strong>as</strong>semia<br />
2672 Hemoglobin Zurich<br />
2673 Hemoglobinemia<br />
2674 Hemolytic anemia lethal congenital nonspherocytic with genital<br />
<strong>and</strong> other abnormalities<br />
2675 Hemolytic uremic syndrome<br />
2676 Hemolytic uremic syndrome, atypical, childhood<br />
2677 Hemophagocytic lymphohistiocytosis<br />
2678 Hemophagocytic lymphohistiocytosis, familial, 2<br />
2679 Hemophagocytic lymphohistiocytosis, familial, 3<br />
2680 Hemophagocytic lymphohistiocytosis, familial, 4<br />
2681 Hemophagocytic reticulosis<br />
2682 Hemophilia<br />
2683 Hemophilia A, acquired<br />
2684 Hemophilia A, congenital<br />
2685 Hemophilia B<br />
2686 Hemophilic arthropathy<br />
2687 Hemorrhagic fever<br />
2688 Hemorrhagic proctocolitis<br />
2689 Hemorrhagic shock <strong>and</strong> encephalopathy syndrome<br />
2690 Hemosiderosis<br />
2691 Hennekam syndrome<br />
2692 Hennekam Van der Horst syndrome<br />
2693 Henoch-Schonlein purpura<br />
2694 Hepadnavirus infection
2695 Heparane sulfamid<strong>as</strong>e deficiency<br />
2696 Heparin-induced thrombocytopenia<br />
2697 Hepatic cystic hamartoma<br />
2698 Hepatic encephalopathy<br />
2699 Hepatic fibrosis renal cysts mental retardation<br />
2700 Hepatic venoocclusive dise<strong>as</strong>e with immunodeficiency<br />
2701 Hepatitis E<br />
2702 Hepatobl<strong>as</strong>toma<br />
2703 Hepatocellular carcinoma (fibrolamellar variant)<br />
2704 Hepatocellular carcinoma, childhood<br />
2705 Hepatoerythropoietic porphyria<br />
2706 Hepatorenal syndrome<br />
2707 Hereditary amyloidosis<br />
2708 Hereditary angioedema<br />
2709 Hereditary angiopathy with nephropathy, aneurysms, <strong>and</strong> muscle<br />
cramps syndrome<br />
2710 Hereditary ataxia<br />
2711 Hereditary cerebellar ataxia syndrome <strong>of</strong> early onset<br />
2712 Hereditary cerebral hemorrhage with amyloidosis<br />
2713 Hereditary congenital facial paresis<br />
2714 Hereditary coproporphyria<br />
2715 Hereditary diffuse g<strong>as</strong>tric cancer<br />
2716 Hereditary diffuse leukoencephalopathy with spheroids<br />
2717 Hereditary elliptocytosis<br />
2718 Hereditary endotheliopathy, retinopathy, nephropathy, <strong>and</strong> stroke<br />
2719 Hereditary fructose intolerance<br />
2720 Hereditary hemorrhagic telangiect<strong>as</strong>ia<br />
2721 Hereditary hemorrhagic telangiect<strong>as</strong>ia type 2<br />
2722 Hereditary hemorrhagic telangiect<strong>as</strong>ia type 3<br />
2723 Hereditary hemorrhagic telangiect<strong>as</strong>ia type 4<br />
2724 Hereditary hy<strong>per</strong>ekplexia<br />
2725 Hereditary hy<strong>per</strong>uricemia<br />
2726 Hereditary koilonychia<br />
2727 Hereditary lymphedema type II<br />
2728 Hereditary methemoglobinemia, recessive<br />
2729 Hereditary mucoepithelial dyspl<strong>as</strong>ia<br />
2730 Hereditary multiple osteochondrom<strong>as</strong><br />
2731 Hereditary myopathy with intranuclear filamentous<br />
2732 Hereditary neuralgic amyotrophy<br />
2733 Hereditary neuropathy with liability to pressure palsy
2734 Hereditary nodular heterotopia<br />
2735 Hereditary orotic aciduria without megalobl<strong>as</strong>tic anaemia<br />
2736 Hereditary pancreatitis<br />
2737 Hereditary paroxysmal cerebral ataxia<br />
2738 Hereditary <strong>per</strong>ipheral nervous disorder<br />
2739 Hereditary primary Fanconi dise<strong>as</strong>e<br />
2740 Hereditary resistance to anti-vitamin K<br />
2741 Hereditary sensory <strong>and</strong> autonomic neuropathy type 2<br />
2742 Hereditary sp<strong>as</strong>tic paraplegia<br />
2743 Hereditary spherocytosis<br />
2744 Hereditary type 1 neuropathy<br />
2745 Hereditary type 2 neuropathy<br />
2746 Hereditary v<strong>as</strong>cular retinopathy<br />
2747 Hermansky Pudlak syndrome 2<br />
2748 Hermansky-Pudlak syndrome<br />
2749 Herpes simiae (B virus)<br />
2750 Herpes simplex encephalitis<br />
2751 Herpes virus antenatal infection<br />
2752 Herpes zoster ophthalmicus<br />
2753 Herpes zoster oticus<br />
2754 Herpesvirus simiae B virus<br />
2755 Herpetic embryopathy<br />
2756 Herpetic keratitis<br />
2757 Herrmann Opitz arthrogryposis syndrome<br />
2758 Herrmann Opitz craniosynostosis<br />
2759 Herrmann syndrome<br />
2760 Hersh Podruch Weisskopk syndrome<br />
2761 Heterochromia iridis<br />
2762 Heterotaxy<br />
2763 HHV-6 encephalitis<br />
2764 Hidradenocarcinoma<br />
2765 High molecular weight kininogen deficiency<br />
2766 Hillig syndrome<br />
2767 Hing Torack Dowston syndrome<br />
2768 Hip luxation<br />
2769 Hip subluxation<br />
2770 Hirschsprung dise<strong>as</strong>e ganglioneurobl<strong>as</strong>toma<br />
2771 Hirschsprung dise<strong>as</strong>e polydactyly heart dise<strong>as</strong>e<br />
2772 Hirschsprung dise<strong>as</strong>e type 2<br />
2773 Hirschsprung dise<strong>as</strong>e type 3
2774 Hirschsprung dise<strong>as</strong>e type d brachydactyly<br />
2775 Hirschsprung microcephaly cleft palate<br />
2776 Hirschsprung nail hypopl<strong>as</strong>ia dysmorphism<br />
2777 Hirschsprung's dise<strong>as</strong>e<br />
2778 Hirsutism skeletal dyspl<strong>as</strong>ia mental retardation<br />
2779 His bundle tachycardia<br />
2780 Histidinemia<br />
2781 Histidinuria renal tubular defect<br />
2782 Histiocytosis with joint contractures <strong>and</strong> sensorineural deafness<br />
2783 Histiocytosis, Non-Langerhans-Cell<br />
2784 Hittner Hirsch Kreh syndrome<br />
2785 Hm syndrome<br />
2786 HMG CoA ly<strong>as</strong>e deficiency<br />
2787 HMG CoA synthet<strong>as</strong>e deficiency<br />
2788 Ho Kaufman Mcalister syndrome<br />
2789 Hodgkin dise<strong>as</strong>e, X-linked pseudoautosomal<br />
2790 Hodgkin lymphoma<br />
2791 Hodgkin lymphoma, childhood<br />
2792 Hodgkin lymphoma, during pregnancy<br />
2793 Holmes Borden syndrome<br />
2794 Holoacardius amorphus<br />
2795 Holocarboxyl<strong>as</strong>e synthet<strong>as</strong>e deficiency<br />
2796 Holoprosencephaly<br />
2797 Holoprosencephaly caudal dysgenesis<br />
2798 Holoprosencephaly ectrodactyly cleft lip palate<br />
2799 Holoprosencephaly, recurrent infections, <strong>and</strong> monocytosis<br />
2800 Holt-Oram syndrome<br />
2801 Holzgreve syndrome<br />
2802 Homocarnosinosis<br />
2803 Homocysteinemia<br />
2804 Homocysteinemia due to MTHFR deficiency<br />
2805 Homocystinuria<br />
2806 Homocystinuria due to CBS deficiency<br />
2807 Homocystinuria due to defect in methylation cbl e<br />
2808 Homocystinuria due to defect in methylation cbl g<br />
2809 Homologous w<strong>as</strong>ting dise<strong>as</strong>e<br />
2810 Ho<strong>of</strong>t dise<strong>as</strong>e<br />
2811 Hoon Hall syndrome<br />
2812 Hordnes Engebretsen Knudtson syndrome<br />
2813 Horn Kolb syndrome
2814 Horner's syndrome<br />
2815 Horseshoe kidney<br />
2816 Houlston Ironton Temple syndrome<br />
2817 Hoyeraal Hreidarsson syndrome<br />
2818 HTLV-1 <strong>as</strong>sociated myelopathy/tropical sp<strong>as</strong>tic paraparesis<br />
2819 Human granulocytic ehrlichiosis<br />
2820 Human monocytic ehrlichiosis<br />
2821 Human spumaretrovirus infection<br />
2822 Human T-cell leukemia virus type 1<br />
2823 Human T-cell leukemia virus type 2<br />
2824 Human T-cell leukemia virus type 3<br />
2825 Humeroradial synostosis<br />
2826 Humeroradioulnar synostosis<br />
2827 Hunter Carpenter Macdonald syndrome<br />
2828 Hunter Macpherson syndrome<br />
2829 Hunter Mcdonald syndrome<br />
2830 Hunter Rudd H<strong>of</strong>fmann syndrome<br />
2831 Hunter-McAlpine syndrome<br />
2832 Huntington dise<strong>as</strong>e<br />
2833 Hurst Hallam Hockey syndrome<br />
2834 Hurthle cell thyroid cancer<br />
2835 Hutchinson incisors<br />
2836 Hutterite cerebroosteonephrodyspl<strong>as</strong>ia syndrome<br />
2837 Hyalinosis systemic short stature<br />
2838 Hydatidiform mole<br />
2839 Hydatidosis<br />
2840 Hyde Forster Mccarthy Berry syndrome<br />
2841 Hydranencephaly<br />
2842 Hydroa vacciniforme<br />
2843 Hydroa vacciniforme, familial<br />
2844 Hydrocephalus<br />
2845 Hydrocephalus autosomal recessive<br />
2846 Hydrocephalus craniosynostosis bifid nose<br />
2847 Hydrocephalus due to congenital stenosis <strong>of</strong> aqueduct <strong>of</strong> sylvius<br />
2848 Hydrocephalus growth retardation skeletal anomalies<br />
2849 Hydrocephalus obesity hypogonadism<br />
2850 Hydrocephalus skeletal anomalies<br />
2851 Hydrocephalus, costovertebral dyspl<strong>as</strong>ia, <strong>and</strong> Sprengel anomaly<br />
2852 Hydrocephaly corpus callosum agenesis diaphragmatic hernia<br />
2853 Hydrolethalus syndrome
2854 Hydronephrosis peculiar facial expression<br />
2855 Hydrops ectrodactyly syndactyly<br />
2856 Hydrops fetalis<br />
2857 Hydrops fetalis anemia immune disorder absent thumb<br />
2858 Hydrops, Ectopic calcification, Moth-eaten skeletal dyspl<strong>as</strong>ia<br />
2859 Hydroxycarboxylic aciduria<br />
2860 Hydroxykynureninuria<br />
2861 Hydroxyprolinemia<br />
2862 Hygroma cervical<br />
2863 Hymenolepi<strong>as</strong>is<br />
2864 Hy<strong>per</strong> IgE syndrome<br />
2865 Hy<strong>per</strong>acusis<br />
2866 Hy<strong>per</strong>adrenalism<br />
2867 Hy<strong>per</strong>betaalaninemia<br />
2868 Hy<strong>per</strong>bilirubinemia transient familial neonatal<br />
2869 Hy<strong>per</strong>bilirubinemia type 2<br />
2870 Hy<strong>per</strong>calcinuria macular coloboma<br />
2871 Hy<strong>per</strong>cementosis<br />
2872 Hy<strong>per</strong>eosinophilic syndrome<br />
2873 Hy<strong>per</strong>ferritinemia cataract syndrome<br />
2874 Hy<strong>per</strong>glycerolemia<br />
2875 Hy<strong>per</strong>glycinemia, isolated nonketotic<br />
2876 Hy<strong>per</strong>glycinemia, isolated nonketotic type 1<br />
2877 Hy<strong>per</strong>glycinemia, isolated nonketotic type 2<br />
2878 Hy<strong>per</strong>gonadotropic ovarian failure, familial or sporadic<br />
2879 Hy<strong>per</strong>-IgD syndrome<br />
2880 Hy<strong>per</strong>insulinemic hypoglycemia familial 2<br />
2881 Hy<strong>per</strong>insulinemic hypoglycemia familial 3<br />
2882 Hy<strong>per</strong>insulinism due to glucokin<strong>as</strong>e deficiency<br />
2883 Hy<strong>per</strong>insulinism due to glutamodehydrogen<strong>as</strong>e deficiency<br />
2884 Hy<strong>per</strong>insulinism, diffuse<br />
2885 Hy<strong>per</strong>insulinism, focal<br />
2886 Hy<strong>per</strong>insulinism-hy<strong>per</strong>ammonemia syndrome<br />
2887 Hy<strong>per</strong>kalemic <strong>per</strong>iodic paralysis<br />
2888 Hy<strong>per</strong>keratosis lenticularis <strong>per</strong>stans<br />
2889 Hy<strong>per</strong>keratosis palmoplantar localized acanthokeratolytic<br />
2890 Hy<strong>per</strong>keratosis palmoplantar localized epidermolytic<br />
2891 Hy<strong>per</strong>lipidemia type 3<br />
2892 Hy<strong>per</strong>lipoproteinemia type 1<br />
2893 Hy<strong>per</strong>lipoproteinemia type 2
2894 Hy<strong>per</strong>lipoproteinemia type 4<br />
2895 Hy<strong>per</strong>lipoproteinemia type 5<br />
2896 Hy<strong>per</strong>lysinemia<br />
2897 Hy<strong>per</strong>manganesemia with dystonia polycythemia <strong>and</strong> cirrhosis<br />
2898 Hy<strong>per</strong>ostosis cortical infantile<br />
2899 Hy<strong>per</strong>ostosis corticalis generalisata<br />
2900 Hy<strong>per</strong>ostosis corticalis generalisata, benign form <strong>of</strong> Worth with<br />
torus palatinus<br />
2901 Hy<strong>per</strong>ostosis-hy<strong>per</strong>phosphatemia syndrome<br />
2902 Hy<strong>per</strong>parathyroidism, neonatal severe primary<br />
2903 Hy<strong>per</strong>parathyroidism, primary<br />
2904 Hy<strong>per</strong>parathyroidism-jaw tumor syndrome<br />
2905 Hy<strong>per</strong>phenilalaninemia due to pterin-4-alpha-carbin<br />
2906 Hy<strong>per</strong>phenylalaninemia due to dehydrat<strong>as</strong>e deficiency<br />
2907 Hy<strong>per</strong>phosphatemic familial tumoral calcinosis<br />
2908 Hy<strong>per</strong>pipecolatemia<br />
2909 Hy<strong>per</strong>prolinemia<br />
2910 Hy<strong>per</strong>prolinemia type 2<br />
2911 Hy<strong>per</strong>-reninism<br />
2912 Hy<strong>per</strong>sensitivity v<strong>as</strong>culitis<br />
2913 Hy<strong>per</strong>telorism <strong>and</strong> tetralogy <strong>of</strong> Fallot<br />
2914 Hy<strong>per</strong>tensive hypokalemia familial<br />
2915 Hy<strong>per</strong>thermia induced defects<br />
2916 Hy<strong>per</strong>trichosis congenital generalized X-linked<br />
2917 Hy<strong>per</strong>trichosis lanuginosa congenita<br />
2918 Hy<strong>per</strong>trichosis lanuginosa, acquired<br />
2919 Hy<strong>per</strong>trichosis, anterior cervical<br />
2920 Hy<strong>per</strong>trichosis, hy<strong>per</strong>keratosis, mental retardation, <strong>and</strong> distinctive<br />
facial features<br />
2921 Hy<strong>per</strong>trophic branchial myopathy<br />
2922 Hy<strong>per</strong>trophic hemangiect<strong>as</strong>ia<br />
2923 Hy<strong>per</strong>trophic neuropathy <strong>of</strong> Dejerine-Sott<strong>as</strong><br />
2924 Hy<strong>per</strong>tryptophanemia<br />
2925 Hypnic headache<br />
2926 Hypoadrenalism<br />
2927 Hypoaldosteronism<br />
2928 Hypobetalipoproteinaemia ataxia hearing loss<br />
2929 Hypocalcemia, autosomal dominant<br />
2930 Hypochondropl<strong>as</strong>ia<br />
2931 Hypocomplementemic urticarial v<strong>as</strong>culitis
2932 Hypodermy<strong>as</strong>is<br />
2933 Hypodontia <strong>of</strong> incisors <strong>and</strong> premolars<br />
2934 Hypodontia, X-linked<br />
2935 Hyp<strong>of</strong>ibrinogenemia, familial<br />
2936 Hypoglycemia with deficiency <strong>of</strong> glycogen synthet<strong>as</strong>e in the liver<br />
2937 Hypogonadism cardiomyopathy<br />
2938 Hypogonadism male mental retardation skeletal anomaly<br />
2939 Hypogonadism mitral valve prolapse mental retardation<br />
2940 Hypogonadism primary partial alopecia<br />
2941 Hypogonadism, alopecia, diabetes mellitus, mental retardation,<br />
<strong>and</strong> extrapyramidal syndrome<br />
2942 Hypogonadism, isolated, hypogonadotropic<br />
2943 Hypogonadotropic hypogonadism without anosmia, X-linked<br />
2944 Hypohidrotic ectodermal dyspl<strong>as</strong>ia<br />
2945 Hypohidrotic ectodermal dyspl<strong>as</strong>ia autosomal dominant<br />
2946 Hypohidrotic ectodermal dyspl<strong>as</strong>ia autosomal recessive<br />
2947 Hypohidrotic ectodermal dyspl<strong>as</strong>ia with hypothyroidism <strong>and</strong><br />
ciliary dyskinesia<br />
2948 Hypohidrotic ectodermal dyspl<strong>as</strong>ia with immune deficiency<br />
2949 Hypokalemic <strong>per</strong>iodic paralysis<br />
2950 Hypoketonemic hypoglycemia<br />
2951 Hypolipoproteinemia<br />
2952 Hypomagnesemia 2, renal<br />
2953 Hypomagnesemia primary<br />
2954 Hypom<strong>and</strong>ibular faciocranial dysostosis<br />
2955 Hypomelanosis <strong>of</strong> Ito<br />
2956 Hypomelanotic disorder<br />
2957 Hypomelia mullerian duct anomalies<br />
2958 Hypomyelination with atrophy <strong>of</strong> b<strong>as</strong>al ganglia <strong>and</strong> cerebellum<br />
2959 Hypoparathyroidism<br />
2960 Hypoparathyroidism familial isolated<br />
2961 Hypoparathyroidism short stature mental retardation<br />
2962 Hypoparathyroidism X-linked<br />
2963 Hypoparathyroidism-retardation-dysmorphism syndrome<br />
2964 Hypopharyngeal cancer<br />
2965 Hypophosphat<strong>as</strong>ia<br />
2966 Hypophosphat<strong>as</strong>ia childhood<br />
2967 Hypophosphatemic rickets<br />
2968 Hypopituitarism<br />
2969 Hypopituitarism micropenis cleft lip palate
2970 Hypopituitarism postaxial polydactyly<br />
2971 Hypopl<strong>as</strong>ia hepatic ductular<br />
2972 Hypopl<strong>as</strong>ia <strong>of</strong> the tibia with polydactyly<br />
2973 Hypopl<strong>as</strong>tic left heart syndrome<br />
2974 Hypopl<strong>as</strong>tic right heart syndrome<br />
2975 Hypopl<strong>as</strong>tic thumb mullerian apl<strong>as</strong>ia<br />
2976 Hypopl<strong>as</strong>tic thumbs hydranencephaly<br />
2977 Hyporeninemic hypoaldosteronism<br />
2978 Hyposmia n<strong>as</strong>al hypopl<strong>as</strong>ia hypogonadism<br />
2979 Hypospadi<strong>as</strong> familial<br />
2980 Hypospadi<strong>as</strong> mental retardation Goldblatt type<br />
2981 Hypotelorism cleft palate hypospadi<strong>as</strong><br />
2982 Hypothalamic dysfunction<br />
2983 Hypothalamic hamartom<strong>as</strong><br />
2984 Hypothyroidism due to iodide transport defect<br />
2985 Hypothyroidism postaxial polydactyly mental retardation<br />
2986 Hypotonia, congenital nystagmus, ataxia <strong>and</strong> abnormal auditory<br />
brainstem response<br />
2987 Hypotonic sclerotic muscular dystrophy<br />
2988 Hypotrichosis simplex<br />
2989 Hypoxanthine guanine phosphoribosyltransfer<strong>as</strong>e deficiency<br />
2990 I cell dise<strong>as</strong>e<br />
2991 IBIDS syndrome<br />
2992 ICF syndrome<br />
2993 Ichthyosiform erythroderma, corneal involvement, deafness<br />
2994 Ichthyosis alopecia eclabion ectropion mental retardation<br />
2995 Ichthyosis <strong>and</strong> male hypogonadism<br />
2996 Ichthyosis bullosa <strong>of</strong> Siemens<br />
2997 Ichthyosis cheek eyebrow syndrome<br />
2998 Ichthyosis congenita biliary atresia<br />
2999 Ichthyosis deafness mental retardation skeletal anomaly<br />
3000 Ichthyosis follicularis atrichia photophobia syndrome<br />
3001 Ichthyosis hystrix gravior<br />
3002 Ichthyosis hystrix, Curth Macklin type<br />
3003 Ichthyosis lamellar 1<br />
3004 Ichthyosis lamellar 2<br />
3005 Ichthyosis lamellar 3<br />
3006 Ichthyosis lamellar, autosomal dominant<br />
3007 Ichthyosis linearis circumflexa<br />
3008 Ichthyosis mental retardation dwarfism renal impairment
3009 Ichthyosis prematurity syndrome<br />
3010 Ichthyosis ta<strong>per</strong>ed fingers midline groove up<br />
3011 Ichthyosis vulgaris<br />
3012 Ichthyosis with hypotrichosis, autosomal recessive<br />
3013 Ichthyosis, acquired<br />
3014 Ichthyosis, erythrokeratolysis hemalis<br />
3015 Ichthyosis, follicular<br />
3016 Ichthyosis, leukocyte vacuoles, alopecia, <strong>and</strong> sclerosing<br />
cholangitis<br />
3017 Ichthyosis, mental retardation, dwarfism <strong>and</strong> renal impairment<br />
3018 Ichthyosis-mental retardation syndrome with large keratohyalin<br />
granules in the skin<br />
3019 Idiopathic acute eosinophilic pneumonia<br />
3020 Idiopathic adolescent scoliosis<br />
3021 Idiopathic alveolar hypoventilation syndrome<br />
3022 Idiopathic b<strong>as</strong>al ganglia calcification childhood-onset<br />
3023 Idiopathic diffuse interstitial fibrosis<br />
3024 Idiopathic dilatation <strong>of</strong> the pulmonary artery<br />
3025 Idiopathic double athetosis<br />
3026 Idiopathic eosinophilic chronic pneumopathy<br />
3027 Idiopathic juxtafoveal retinal telangiect<strong>as</strong>ia<br />
3028 Idiopathic myopathy<br />
3029 Idiopathic pulmonary fibrosis<br />
3030 Idiopathic pulmonary hemosiderosis<br />
3031 Idiopathic pulmonary hy<strong>per</strong>tension<br />
3032 Idiopathic spinal cord herniation<br />
3033 Idiopathic subglottic tracheal stenosis<br />
3034 Idiopathic thrombocytopenic purpura<br />
3035 Iida Kannari syndrome<br />
3036 IL12RB1 deficiency<br />
3037 Illum syndrome<br />
3038 Imaizumi Kuroki syndrome<br />
3039 Imerslund-Gr<strong>as</strong>beck syndrome<br />
3040 Iminoglycinuria<br />
3041 Immotile cilia syndrome, due to defective radial spokes<br />
3042 Immune defect due to absence <strong>of</strong> thymus<br />
3043 Immune deficiency, familial variable<br />
3044 Immune dysfunction with T-cell inactivation due to calcium entry<br />
defect 1
3045 Immune dysfunction with T-cell inactivation due to calcium entry<br />
defect 2<br />
3046 Immune thrombocytopenia<br />
3047 Immunodeficiency with hy<strong>per</strong> IgM type 1<br />
3048 Immunodeficiency with hy<strong>per</strong> IgM type 2<br />
3049 Immunodeficiency with hy<strong>per</strong> IgM type 3<br />
3050 Immunodeficiency with hy<strong>per</strong> IgM type 4<br />
3051 Immunodeficiency with hy<strong>per</strong> IgM type 5<br />
3052 Immunodeficiency without anhidrotic ectodermal dyspl<strong>as</strong>ia<br />
3053 Immunodeficiency, microcephaly with normal intelligence<br />
3054 Immunodysregulation, polyendocrinopathy <strong>and</strong> enteropathy Xlinked<br />
3055 Immunoglobulin A deficiency 2<br />
3056 Impairment <strong>of</strong> oral <strong>per</strong>ception<br />
3057 Im<strong>per</strong>forate anus<br />
3058 Im<strong>per</strong>forate oropharynx-costo vetebral anomalies<br />
3059 Inborn amino acid metabolism disorder<br />
3060 Inborn renal aminoaciduria<br />
3061 Inclusion body myopathy 2<br />
3062 Inclusion body myopathy 3<br />
3063 Inclusion body myopathy with early-onset Paget dise<strong>as</strong>e <strong>and</strong><br />
frontotemporal dementia<br />
3064 Inclusion body myositis<br />
3065 Inclusion conjunctivitis<br />
3066 Incontinentia pigmenti<br />
3067 Indolent B cell lymphoma<br />
3068 Indomethacin antenatal infection<br />
3069 Infant epilepsy with migrant focal crisis<br />
3070 Infantile apnea<br />
3071 Infantile axonal neuropathy<br />
3072 Infantile convulsions <strong>and</strong> paroxysmal choreoathetosis, familial<br />
3073 Infantile digital fibromatosis<br />
3074 Infantile free sialic acid storage dise<strong>as</strong>e<br />
3075 Infantile histiocytoid cardiomyopathy<br />
3076 Infantile my<strong>of</strong>ibromatosis<br />
3077 Infantile onset spinocerebellar ataxia<br />
3078 Infantile Parkinsonism-dystonia<br />
3079 Infantile recurrent chronic multifocal osteomyolitis<br />
3080 Infantile scoliosis<br />
3081 Infantile sp<strong>as</strong>ms broad thumbs
3082 Infantile striato thalamic degeneration<br />
3083 Infantile-onset <strong>as</strong>cending hereditary sp<strong>as</strong>tic paralysis<br />
3084 Infectious arthritis<br />
3085 Infectious myocarditis<br />
3086 Infective endocarditis<br />
3087 Infective myositis<br />
3088 Inflammatory bre<strong>as</strong>t cancer<br />
3089 Inflammatory linear verrucous epidermal nevus<br />
3090 Inflammatory my<strong>of</strong>ibrobl<strong>as</strong>tic tumor<br />
3091 Infundibulopelvic dysgenesis<br />
3092 Inherited hypoprothrombinemia<br />
3093 Inherited <strong>per</strong>ipheral neuropathy<br />
3094 Iniencephaly<br />
3095 Insulin autoimmune syndrome<br />
3096 Insulin-like growth factor 1 resistance to<br />
3097 Insulin-like growth factor I deficiency<br />
3098 Insulinoma<br />
3099 Insulin-resistance type B<br />
3100 Insulin-resistant acanthosis nigricans, type A<br />
3101 Intellectual deficit - short stature - hy<strong>per</strong>telorism<br />
3102 Intellectual deficit Buenos-Aires type<br />
3103 Intellectual deficit unusual facies talipes h<strong>and</strong> anomalies<br />
3104 Intercellular cholesterol esterification dise<strong>as</strong>e<br />
3105 Interferon gamma, receptor 1, deficiency<br />
3106 Intermediate severe Salla dise<strong>as</strong>e<br />
3107 Internal carotid agenesis<br />
3108 Intestinal atresia multiple<br />
3109 Intestinal pseudo-obstruction<br />
3110 Intestinal pseudoobstruction neuronal chronic idiopathic X-linked<br />
3111 Intracranial aneurysms multiple congenital anomaly<br />
3112 Intracranial arteriovenous malformation<br />
3113 Intrahepatic cholangiocarcinoma<br />
3114 Intrahepatic cholest<strong>as</strong>is <strong>of</strong> pregnancy<br />
3115 Intraneural <strong>per</strong>ineurioma<br />
3116 Intraocular melanoma<br />
3117 Intrathoracic kidney vertebral fusion<br />
3118 Intrauterine growth retardation - m<strong>and</strong>ibular malar hypopl<strong>as</strong>ia<br />
3119 Intrauterine growth retardation with incre<strong>as</strong>ed mitomycin C<br />
sensitivity<br />
3120 Intrauterine infections
3121 Intrav<strong>as</strong>cular papillary endothelial hy<strong>per</strong>pl<strong>as</strong>ia<br />
3122 Intravenous leiomyomatosis<br />
3123 Intrinsic factor deficiency<br />
3124 Iodine antenatal infection<br />
3125 IRAK4 deficiency<br />
3126 Iridocorneal endothelial syndrome<br />
3127 Iridogoniodysgenesis <strong>and</strong> skeletal anomalies<br />
3128 Iridogoniodysgenesis type1<br />
3129 Iridogoniodysgenesis, dominant type<br />
3130 Iris coloboma with ptosis hy<strong>per</strong>telorism <strong>and</strong> mental retardation<br />
3131 Iris dyspl<strong>as</strong>ia hy<strong>per</strong>telorism deafness<br />
3132 Iris hypopl<strong>as</strong>ia <strong>and</strong> glaucoma<br />
3133 Iron-refractory iron deficiency anemia<br />
3134 Irons Bhan syndrome<br />
3135 Isaac's syndrome<br />
3136 Ischiadic hypopl<strong>as</strong>ia renal dysfunction immunodeficiency<br />
3137 Isobutyryl-CoA dehydrogen<strong>as</strong>e deficiency<br />
3138 Isochromosome Yp<br />
3139 Isodicentric chromosome 15 syndrome<br />
3140 Isolated ACTH deficiency<br />
3141 Isolated growth hormone deficiency type 1A<br />
3142 Isolated growth hormone deficiency type 1B<br />
3143 Isolated growth hormone deficiency type 2<br />
3144 Isolated growth hormone deficiency type 3<br />
3145 Isospori<strong>as</strong>is<br />
3146 Isotretinoin embryopathy like syndrome<br />
3147 Isovaleric acidemia<br />
3148 Isthmian coarctation<br />
3149 ITCH E3 ubiquitin lig<strong>as</strong>e deficiency<br />
3150 Ivemark syndrome<br />
3151 IVIC syndrome<br />
3152 Jackson-Weiss syndrome<br />
3153 Jacobsen syndrome<br />
3154 Jaffer Beighton syndrome<br />
3155 Jamaican vomiting sickness<br />
3156 Jankovic Rivera syndrome<br />
3157 Jansen type metaphyseal chondrodyspl<strong>as</strong>ia<br />
3158 Japanese encephalitis<br />
3159 Jejunal atresia<br />
3160 Jejunal atresia with renal adyspl<strong>as</strong>ia
3161 Jensen syndrome<br />
3162 Jervell <strong>and</strong> Lange-Nielsen syndrome 2<br />
3163 Jervell Lange-Nielsen syndrome<br />
3164 Jeune syndrome<br />
3165 Jeune syndrome situs inversus<br />
3166 JMP syndrome<br />
3167 Johanson Blizzard syndrome<br />
3168 Johnson Hall Krous syndrome<br />
3169 Johnson Munson syndrome<br />
3170 Johnson neuroectodermal syndrome<br />
3171 Johnston Aarons Schelley syndrome<br />
3172 Joint laxity, familial<br />
3173 Jones Hersh Yusk syndrome<br />
3174 Jones syndrome<br />
3175 Jorgenson Lenz syndrome<br />
3176 Joubert syndrome<br />
3177 Joubert syndrome 2<br />
3178 Joubert syndrome with ocular anomalies<br />
3179 Joubert syndrome with oculorenal anomalies<br />
3180 Joubert syndrome with renal anomalies<br />
3181 Juberg Marsidi syndrome<br />
3182 Juberg-Hayward syndrome<br />
3183 Judge Misch Wright syndrome<br />
3184 Jumping Frenchmen <strong>of</strong> Maine<br />
3185 Junctional epidermolysis bullosa<br />
3186 Junctional epidermolysis bullosa inversa<br />
3187 Junctional epidermolysis bullosa with pyloric atresia<br />
3188 Junctional epidermolysis bullosa, Herlitz type<br />
3189 Junctional epidermolysis bullosa, non-Herlitz type<br />
3190 Jung Wolff Back Stahl syndrome<br />
3191 Juvenile dermatomyositis<br />
3192 Juvenile Huntington dise<strong>as</strong>e<br />
3193 Juvenile hyaline fibromatosis<br />
3194 Juvenile macular degeneration <strong>and</strong> hypotrichosis<br />
3195 Juvenile myelomonocytic leukemia<br />
3196 Juvenile myoclonic epilepsy<br />
3197 Juvenile osteoporosis<br />
3198 Juvenile polyposis syndrome<br />
3199 Juvenile primary lateral sclerosis<br />
3200 Juvenile retinoschisis
3201 Juvenile Scleroderma<br />
3202 Juvenile temporal arteritis<br />
3203 Juvenile-onset dystonia<br />
3204 Kabuki syndrome<br />
3205 Kallikrein hy<strong>per</strong>tension<br />
3206 Kallmann syndrome<br />
3207 Kallmann syndrome 1<br />
3208 Kallmann syndrome 2<br />
3209 Kallmann syndrome 3<br />
3210 Kallmann syndrome 4<br />
3211 Kallmann syndrome 5<br />
3212 Kallmann syndrome 6<br />
3213 Kanzaki dise<strong>as</strong>e<br />
3214 Kaolin pneumoconiosis<br />
3215 Kaplan Plauchu Fitch syndrome<br />
3216 Kaplowitz Bodurtha syndrome<br />
3217 Kaposiform Hemangioendothelioma<br />
3218 Kapur Toriello syndrome<br />
3219 Karak syndrome<br />
3220 Kar<strong>and</strong>ikar Maria Kamble syndrome<br />
3221 Kartagener syndrome<br />
3222 K<strong>as</strong>hani Strom Utley syndrome<br />
3223 K<strong>as</strong>znica Carlson Coppedge syndrome<br />
3224 Katsantoni Papadakou Lagoyanni syndrome<br />
3225 Kaufman oculocerebr<strong>of</strong>acial syndrome<br />
3226 Kaw<strong>as</strong>aki syndrome<br />
3227 KBG syndrome<br />
3228 Kearns Sayre syndrome<br />
3229 Kennedy dise<strong>as</strong>e<br />
3230 Kennerknecht Vogel syndrome<br />
3231 Kenny-Caffey syndrome type 1<br />
3232 Kenny-Caffey syndrome type 2<br />
3233 Keratitis, hereditary<br />
3234 Keratoconus<br />
3235 Keratoconus posticus circumscriptus<br />
3236 Keratoderma palmoplantar deafness<br />
3237 Keratoderma palmoplantar sp<strong>as</strong>tic paralysis<br />
3238 Keratoderma palmoplantaris transgrediens<br />
3239 Keratolytic winter erythema<br />
3240 Keratomalacia
3241 Keratosis focal palmoplantar gingival<br />
3242 Keratosis follicularis dwarfism <strong>and</strong> cerebral atrophy<br />
3243 Keratosis follicularis spinulosa decalvans<br />
3244 Keratosis palmoplantaris adenocarcinoma <strong>of</strong> the colon<br />
3245 Keratosis palmoplantaris papulosa<br />
3246 Keratosis palmoplantaris striata 1<br />
3247 Keratosis palmoplantaris striata 3<br />
3248 Keratosis, seborrheic<br />
3249 Kerion celsi<br />
3250 Kernicterus<br />
3251 Keshan dise<strong>as</strong>e<br />
3252 Keutel syndrome<br />
3253 KID syndrome<br />
3254 Kidney cancer<br />
3255 Kidney cancer, childhood<br />
3256 Kienbock's dise<strong>as</strong>e<br />
3257 Kifafa seizure disorder<br />
3258 Kikuchi dise<strong>as</strong>e<br />
3259 Kimura dise<strong>as</strong>e<br />
3260 Kindler syndrome<br />
3261 King Denborough syndrome<br />
3262 Kingella infections<br />
3263 Klatskin tumor<br />
3264 Klebsiella<br />
3265 Kleeblattschaedel syndrome<br />
3266 Kleefstra syndrome<br />
3267 Kleine Levin syndrome<br />
3268 Kleiner Holmes syndrome<br />
3269 Klinefelter syndrome<br />
3270 Klippel Feil syndrome<br />
3271 Klippel-Trenaunay syndrome<br />
3272 Klumpke paralysis<br />
3273 Kluver Bucy syndrome<br />
3274 Kniest dyspl<strong>as</strong>ia<br />
3275 Kniest like dyspl<strong>as</strong>ia lethal<br />
3276 Kniest-like dyspl<strong>as</strong>ia with pursed lips <strong>and</strong> ectopia lentis<br />
3277 Knobloch syndrome<br />
3278 Knuckle pads, leuconychia <strong>and</strong> sensorineural deafness<br />
3279 Kocher-Debre-Semelaigne syndrome<br />
3280 Kohler dise<strong>as</strong>e
3281 Kohlschutter Tonz syndrome<br />
3282 Konigsmark Knox Hussels syndrome<br />
3283 Koone Rizzo Eli<strong>as</strong> syndrome<br />
3284 Kosztolanyi syndrome<br />
3285 Kotzot-Richter syndrome<br />
3286 Kousseff Nichols syndrome<br />
3287 Kowarski syndrome<br />
3288 Kozlowski Brown Hardwick syndrome<br />
3289 Kozlowski Celermajer Tink syndrome<br />
3290 Kozlowski Ouvrier syndrome<br />
3291 Kozlowski Rafinski Klicharska syndrome<br />
3292 Kozlowski Warren Fisher syndrome<br />
3293 Kozlowski-Krajewska syndrome<br />
3294 Krabbe dise<strong>as</strong>e atypical due to Saposin A deficiency<br />
3295 Krabbe leukodystrophy<br />
3296 Krauss Herman Holmes syndrome<br />
3297 Krieble Bixler syndrome<br />
3298 Krukenberg carcinoma<br />
3299 KSHV inflammatory cytokine syndrome<br />
3300 Kurczynski C<strong>as</strong><strong>per</strong>son syndrome<br />
3301 Kuru<br />
3302 Kuskokwim dise<strong>as</strong>e<br />
3303 Kuster Majewski Hammerstein syndrome<br />
3304 Kuster syndrome<br />
3305 Ky<strong>as</strong>anur Forest dise<strong>as</strong>e<br />
3306 Kyphomelic dyspl<strong>as</strong>ia<br />
3307 Kyrle dise<strong>as</strong>e<br />
3308 L-2-hydroxyglutaric aciduria<br />
3309 La Crosse encephalitis<br />
3310 Lab<strong>and</strong> syndrome<br />
3311 Labrador lung<br />
3312 Lachiewicz Sibley syndrome<br />
3313 Lacrimo-auriculo-dento-digital syndrome<br />
3314 Lactate dehydrogen<strong>as</strong>e A deficiency<br />
3315 Lactate dehydrogen<strong>as</strong>e B deficiency<br />
3316 Lactate dehydrogen<strong>as</strong>e deficiency<br />
3317 Lactate dehydrogen<strong>as</strong>e deficiency type C<br />
3318 Lactic acidosis congenital infantile<br />
3319 Lafora dise<strong>as</strong>e<br />
3320 Lagophthalmia cleft lip palate
3321 Laing distal myopathy<br />
3322 Lambdoid synostosis<br />
3323 Lambert Eaton my<strong>as</strong>thenic syndrome<br />
3324 Lambert syndrome<br />
3325 Lamellar ichthyosis<br />
3326 L<strong>and</strong>au-Kleffner syndrome<br />
3327 L<strong>and</strong>y-Donnai syndrome<br />
3328 Langer mesomelic dyspl<strong>as</strong>ia<br />
3329 Langer Nishino Yamaguchi syndrome<br />
3330 Langerhans cell histiocytosis<br />
3331 Langerhans cell sarcoma<br />
3332 Laparoschisis<br />
3333 Laplane Fontaine Lagardere syndrome<br />
3334 Large B cell diffuse lymphoma<br />
3335 Large granular lymphocyte leukemia<br />
3336 Laron syndrome<br />
3337 Larsen syndrome<br />
3338 Larsen syndrome, dominant type<br />
3339 Larsen syndrome, recessive type<br />
3340 Larsen-like syndrome<br />
3341 Laryngeal abductor paralysis mental retardation<br />
3342 Laryngeal cancer<br />
3343 Laryngeal cancer, childhood<br />
3344 Laryngeal cleft<br />
3345 Laryngeal papillomatosis<br />
3346 Laryngocele<br />
3347 Laryngomalacia<br />
3348 Laryngoonychocutaneous syndrome<br />
3349 Larynx atresia<br />
3350 Larynx, congenital partial atresia <strong>of</strong><br />
3351 L<strong>as</strong>sueur-Graham-Little syndrome<br />
3352 Late-onset congenital adrenal hy<strong>per</strong>pl<strong>as</strong>ia<br />
3353 Lateral body wall defect<br />
3354 Lateral meningocele syndrome<br />
3355 Lateral semicircular canal malformation, familial, with external<br />
<strong>and</strong> middle ear abnormalities<br />
3356 Laterality defects dominant<br />
3357 Lathosterolosis<br />
3358 Lathyrism<br />
3359 Lattice corneal dystrophy type 1
3360 Lattice corneal dystrophy type 3A<br />
3361 Laugier-Hunziker syndrome<br />
3362 Laurence Prosser Rocker syndrome<br />
3363 Laurin-S<strong>and</strong>row syndrome<br />
3364 LCAD deficiency<br />
3365 LCHAD deficiency<br />
3366 Le Marec Bracq Picaud syndrome<br />
3367 Leber congenital amaurosis<br />
3368 Leber congenital amaurosis 1<br />
3369 Leber congenital amaurosis 10<br />
3370 Leber congenital amaurosis 11<br />
3371 Leber congenital amaurosis 12<br />
3372 Leber congenital amaurosis 13<br />
3373 Leber congenital amaurosis 14<br />
3374 Leber congenital amaurosis 15<br />
3375 Leber congenital amaurosis 16<br />
3376 Leber congenital amaurosis 2<br />
3377 Leber congenital amaurosis 3<br />
3378 Leber congenital amaurosis 4<br />
3379 Leber congenital amaurosis 5<br />
3380 Leber congenital amaurosis 6<br />
3381 Leber congenital amaurosis 7<br />
3382 Leber congenital amaurosis 8<br />
3383 Leber congenital amaurosis 9<br />
3384 Leber hereditary optic neuropathy<br />
3385 Leber hereditary optic neuropathy with dystonia<br />
3386 Leber miliary aneurysm<br />
3387 Ledderhose dise<strong>as</strong>e<br />
3388 Left ventricular noncompaction<br />
3389 Left-sided gallbladder<br />
3390 Leg absence deformity cataract<br />
3391 Legg-Calve-Perthes dise<strong>as</strong>e<br />
3392 Legionellosis<br />
3393 Legius syndrome<br />
3394 Leigh syndrome<br />
3395 Leigh syndrome, French Canadian type<br />
3396 Leiner dise<strong>as</strong>e<br />
3397 Leiomyoma <strong>of</strong> vulva <strong>and</strong> esophagus<br />
3398 Leiomyomatosis <strong>and</strong> renal cell cancer, hereditary<br />
3399 Leiomyomatosis familial
3400 Leiomyomatosis <strong>of</strong> esophagus, cataract <strong>and</strong> hematuria<br />
3401 Leiomyomatosis, esophageal <strong>and</strong> vulval, with nephropathy<br />
3402 Leiomyosarcoma<br />
3403 Leishmani<strong>as</strong>is<br />
3404 Leisti Hollister Rimoin syndrome<br />
3405 Lelis syndrome<br />
3406 Lemierre syndrome<br />
3407 Lenegre dise<strong>as</strong>e<br />
3408 Lentigo maligna melanoma<br />
3409 Lenz Majewski hy<strong>per</strong>ostotic dwarfism<br />
3410 Lenz microphthalmia syndrome<br />
3411 LEOPARD syndrome<br />
3412 Leprechaunism<br />
3413 Leptospirosis<br />
3414 Leri pleonosteosis<br />
3415 Leri Weill dyschondrosteosis<br />
3416 Lesch Nyhan syndrome<br />
3417 Lethal chondrodyspl<strong>as</strong>ia Moerman type<br />
3418 Lethal chondrodyspl<strong>as</strong>ia Seller type<br />
3419 Lethal congenital contracture syndrome 1<br />
3420 Lethal congenital contracture syndrome 2<br />
3421 Lethal short limb skeletal dyspl<strong>as</strong>ia Al Gazali type<br />
3422 Lethal short-limb dwarfism, McAlister-Crane type<br />
3423 Leucine-sensitive hypoglycemia <strong>of</strong> infancy<br />
3424 Leucocyte adhesion defect<br />
3425 Leukemia subleukemic<br />
3426 Leukemia, B-cell, chronic<br />
3427 Leukemia, Myeloid<br />
3428 Leukemia, T-cell, chronic<br />
3429 Leukocyte adhesion deficiency type 1<br />
3430 Leukodystrophy<br />
3431 Leukodystrophy reunion type<br />
3432 Leukodystrophy with oligodontia<br />
3433 Leukodystrophy, dysmyelinating, <strong>and</strong> sp<strong>as</strong>tic paraparesis with or<br />
without dystonia<br />
3434 Leukodystrophy, hypomyelinating 3<br />
3435 Leukodystrophy, pseudometachromatic<br />
3436 Leukoencephalopathy palmoplantar keratoderma<br />
3437 Leukoencephalopathy with vanishing white matter<br />
3438 Leukoencephalopathy, arthritis, colitis, <strong>and</strong>
hypogammaglobulinema<br />
3439 Leukoencephalopathy, cerebral calcifications, <strong>and</strong> cysts<br />
3440 Leukomalacia<br />
3441 Leukomelanoderma mental redardation hypotrichosis<br />
3442 Leukonychia totalis<br />
3443 Leukoplakia<br />
3444 Levator syndrome<br />
3445 Levic Stefanovic Nikolic syndrome<br />
3446 Levotransposition <strong>of</strong> the great arteries<br />
3447 Levy-Yeboa syndrome<br />
3448 Lewy body dementia<br />
3449 Leydig cells hypopl<strong>as</strong>ia<br />
3450 Lhermitte-Duclos dise<strong>as</strong>e<br />
3451 Lichen planus follicularis<br />
3452 Lichen planus pigmentosus<br />
3453 Lichen sclerosus<br />
3454 Lichtenstein syndrome<br />
3455 Liddle syndrome<br />
3456 Li-Fraumeni syndrome<br />
3457 Light chain deposition dise<strong>as</strong>e<br />
3458 Limb deficiencies distal with micrognathia<br />
3459 Limb dystonia<br />
3460 Limb reduction defect<br />
3461 Limb-body wall complex<br />
3462 Limb-girdle muscular dystrophy<br />
3463 Limb-girdle muscular dystrophy type 2E<br />
3464 Limb-girdle muscular dystrophy type 2F<br />
3465 Limb-girdle muscular dystrophy type 2H<br />
3466 Limb-girdle muscular dystrophy, type 1A<br />
3467 Limb-girdle muscular dystrophy, type 1B<br />
3468 Limb-girdle muscular dystrophy, type 2A<br />
3469 Limb-girdle muscular dystrophy, type 2B<br />
3470 Limb-girdle muscular dystrophy, type 2C<br />
3471 Limb-girdle muscular dystrophy, type 2D<br />
3472 Limb-girdle muscular dystrophy, type 2G<br />
3473 Limbic encephalitis<br />
3474 Limb-mammary syndrome<br />
3475 Limited scleroderma<br />
3476 Linear hamartoma syndrome<br />
3477 Linear IgA dise<strong>as</strong>e
3478 Linear nevus sebaceous syndrome<br />
3479 Linear porokeratosis<br />
3480 Linear scleroderma<br />
3481 Lip <strong>and</strong> oral cavity cancer<br />
3482 Lip<strong>as</strong>e deficiency combined<br />
3483 Lipidosis with triglycerid storage dise<strong>as</strong>e<br />
3484 Lipoamide dehydrogen<strong>as</strong>e deficiency<br />
3485 Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, <strong>and</strong><br />
leukomelanodermic papules<br />
3486 Lipodermatosclerosis<br />
3487 Lipodystrophy<br />
3488 Lipodystrophy, familial partial, type 2<br />
3489 Lipogranulomatosis<br />
3490 Lipoid proteinosis <strong>of</strong> Urbach <strong>and</strong> Wiethe<br />
3491 Lipomyelomeningocele<br />
3492 Liposarcoma<br />
3493 Lissencephaly 1<br />
3494 Lissencephaly 2<br />
3495 Lissencephaly syndrome type 1<br />
3496 Lissencephaly X-linked<br />
3497 Lissencephaly, isolated<br />
3498 <strong>List</strong>eria infection<br />
3499 Littoral cell angioma <strong>of</strong> the spleen<br />
3500 Liver cancer<br />
3501 Liver failure acute infantile<br />
3502 Localized epiphyseal dyspl<strong>as</strong>ia<br />
3503 Localized hy<strong>per</strong>trophic neuropathy<br />
3504 Localized scleroderma<br />
3505 Locked-in syndrome<br />
3506 Lockwood Feingold syndrome<br />
3507 Loeys-Dietz syndrome<br />
3508 Loeys-Dietz syndrome type 1A<br />
3509 Loeys-Dietz syndrome type 1B<br />
3510 Loeys-Dietz syndrome type 2A<br />
3511 Loeys-Dietz syndrome type 2B<br />
3512 Loeys-Dietz syndrome type 3<br />
3513 Logopenic progressive aph<strong>as</strong>ia<br />
3514 Loi<strong>as</strong>is<br />
3515 Loin pain hematuria syndrome<br />
3516 Long QT syndrome 1
3517 Long QT syndrome 10<br />
3518 Long QT syndrome 11<br />
3519 Long QT syndrome 2<br />
3520 Long QT syndrome 3<br />
3521 Long QT syndrome 4<br />
3522 Long QT syndrome 5<br />
3523 Long QT syndrome 6<br />
3524 Long QT syndrome 8<br />
3525 Long QT syndrome 9<br />
3526 Loose anagen hair syndrome<br />
3527 Lopes Gorlin syndrome<br />
3528 Lowe oculocerebrorenal syndrome<br />
3529 Lower mesodermal defects sequence<br />
3530 Lowry Maclean syndrome<br />
3531 Lowry Wood syndrome<br />
3532 Lubani Al Saleh Teebi syndrome<br />
3533 Lubinsky syndrome<br />
3534 Lubs X-linked mental retardation syndrome<br />
3535 Lucey-Driscoll syndrome<br />
3536 Lujan Fryns syndrome<br />
3537 Lumbar malsegmentation short stature<br />
3538 Lung agenesis<br />
3539 Lupus nephritis<br />
3540 Lutz Richner L<strong>and</strong>olt syndrome<br />
3541 Lymph node neopl<strong>as</strong>m<br />
3542 Lymphangiect<strong>as</strong>is<br />
3543 Lymphangioleiomyomatosis<br />
3544 Lymphangioma<br />
3545 Lymphangiomatosis<br />
3546 Lymphatic filari<strong>as</strong>is<br />
3547 Lymphatic neopl<strong>as</strong>m<br />
3548 Lymphedema <strong>and</strong> cerebral arteriovenous anomaly<br />
3549 Lymphedema, microcephaly <strong>and</strong> chorioretinopathy syndrome<br />
3550 Lymphedema, congenital<br />
3551 Lymphedema-distichi<strong>as</strong>is syndrome<br />
3552 Lymphobl<strong>as</strong>tic lymphoma<br />
3553 Lymphocytes absent<br />
3554 Lymphocytic colitis<br />
3555 Lymphocytic hypophysitis<br />
3556 Lymphocytic infiltrate <strong>of</strong> Jessner
3557 Lymphocytic v<strong>as</strong>culitis<br />
3558 Lymphogranuloma venereum<br />
3559 Lymphoma AIDSrelated<br />
3560 Lymphoma, g<strong>as</strong>tric non Hodgkins type<br />
3561 Lymphoma, large-cell<br />
3562 Lymphoma, large-cell, immunobl<strong>as</strong>tic<br />
3563 Lymphoma, small cleaved-cell, diffuse<br />
3564 Lymphoma, small cleaved-cell, follicular<br />
3565 Lymphomatoid granulomatosis<br />
3566 Lymphomatoid papulosis<br />
3567 Lymphomatous thyroiditis<br />
3568 Lymphosarcoma<br />
3569 Lynch syndrome<br />
3570 Lysinuric protein intolerance<br />
3571 Lysteria monocytoigeneses meningitis<br />
3572 Mac Dermot Winter syndrome<br />
3573 Macrocephaly mesodermal hamartoma spectrum<br />
3574 Macrocephaly, benign familial<br />
3575 Macrocephaly, mental retardation, short stature, sp<strong>as</strong>tic paraplegia<br />
<strong>and</strong> CNS malformations<br />
3576 Macrocephaly-capillary malformation<br />
3577 Macrodactyly <strong>of</strong> the foot<br />
3578 Macrodactyly <strong>of</strong> the h<strong>and</strong><br />
3579 Macroepiphyseal dyspl<strong>as</strong>ia with osteoporosis, wrinkled skin, <strong>and</strong><br />
aged appearance<br />
3580 Macroglossia<br />
3581 Macrogyria, pseudobulbar palsy <strong>and</strong> mental retardation<br />
3582 Macrophagic my<strong>of</strong><strong>as</strong>ciitis<br />
3583 Macrosomia with lethal microphthalmia<br />
3584 Macrothrombocytopenia progressive deafness<br />
3585 Macular dystrophy, atypical vitelliform<br />
3586 Macular dystrophy, concentric annular<br />
3587 Macular dystrophy, corneal type 1<br />
3588 Macules hereditary congenital hypopigmented <strong>and</strong><br />
hy<strong>per</strong>pigmented<br />
3589 Madelung dise<strong>as</strong>e<br />
3590 Madokoro Ohdo Sonoda syndrome<br />
3591 Maffucci syndrome<br />
3592 Mahv<strong>as</strong>h dise<strong>as</strong>e<br />
3593 Majeed syndrome
3594 Mal de debarquement<br />
3595 Malakoplakia<br />
3596 Malaria<br />
3597 Male pseudohermaphroditism due to defective LH molecule<br />
3598 Male pseudohermaphroditism intellectual disability syndrome,<br />
Verloes type<br />
3599 Malignant cylindroma<br />
3600 Malignant eccrine spiradenoma<br />
3601 Malignant fibrous histiocytoma<br />
3602 Malignant germ cell tumor<br />
3603 Malignant hy<strong>per</strong>thermia<br />
3604 Malignant hy<strong>per</strong>thermia arthrogryposis torticollis<br />
3605 Malignant hy<strong>per</strong>thermia susceptibility type 1<br />
3606 Malignant hy<strong>per</strong>thermia susceptibility type 2<br />
3607 Malignant hy<strong>per</strong>thermia susceptibility type 3<br />
3608 Malignant hy<strong>per</strong>thermia susceptibility type 4<br />
3609 Malignant hy<strong>per</strong>thermia susceptibility type 5<br />
3610 Malignant hy<strong>per</strong>thermia susceptibility type 6<br />
3611 Malignant melanoma, childhood<br />
3612 Malignant mesenchymal tumor<br />
3613 Malignant mesothelioma<br />
3614 Malignant mixed Mullerian tumor<br />
3615 Malignant <strong>per</strong>ipheral nerve sheath tumor<br />
3616 Malignant Teratocarcinosarcoma<br />
3617 Mallory-Weiss syndrome<br />
3618 Malonyl-CoA decarboxyl<strong>as</strong>e deficiency<br />
3619 Malpuech facial clefting syndrome<br />
3620 M<strong>and</strong>ibuloacral dyspl<strong>as</strong>ia with type A lipodystrophy<br />
3621 M<strong>and</strong>ibuloacral dyspl<strong>as</strong>ia with type B lipodystrophy<br />
3622 Manitoba oculotrichoanal syndrome<br />
3623 Mannosidosis, beta A, lysosomal<br />
3624 Manouvrier syndrome<br />
3625 Mansonelli<strong>as</strong>is<br />
3626 Mantle cell lymphoma<br />
3627 Manz syndrome<br />
3628 Maple syrup urine dise<strong>as</strong>e<br />
3629 Maple syrup urine dise<strong>as</strong>e type 1A<br />
3630 Maple syrup urine dise<strong>as</strong>e type 1B<br />
3631 Maple syrup urine dise<strong>as</strong>e type 2<br />
3632 Marburg hemorrhagic fever
3633 Marchiafava Bignami dise<strong>as</strong>e<br />
3634 Marcus Gunn phenomenon<br />
3635 Marden Walker like syndrome<br />
3636 Marden-Walker syndrome<br />
3637 Marek dise<strong>as</strong>e<br />
3638 Marfan syndrome<br />
3639 Marfanoid hy<strong>per</strong>mobility syndrome<br />
3640 Marfanoid mental retardation syndrome autosomal<br />
3641 Marginal glioneuronal heterotopia<br />
3642 Marie type ataxia<br />
3643 Marie Unna congenital hypotrichosis<br />
3644 Marinesco-Sjogren syndrome<br />
3645 Marinesco-Sjogren-like syndrome (MSLS)<br />
3646 Markel Vikkula Mulliken syndrome<br />
3647 Maroteaux Fonfria syndrome<br />
3648 Maroteaux Stanescu Cousin syndrome<br />
3649 Marphanoid syndrome type De Silva<br />
3650 Marsden Nyhan Sakati syndrome<br />
3651 Marshall syndrome<br />
3652 Marshall-Smith syndrome<br />
3653 Martinez Mon<strong>as</strong>terio Pinheiro syndrome<br />
3654 Martsolf syndrome<br />
3655 MASS syndrome<br />
3656 M<strong>as</strong>sa C<strong>as</strong>aer Ceulemans syndrome<br />
3657 M<strong>as</strong>tocytic enterocolitis<br />
3658 M<strong>as</strong>tocytosis<br />
3659 M<strong>as</strong>tocytosis cutaneous with short stature conductive hearing loss<br />
<strong>and</strong> microtia<br />
3660 M<strong>as</strong>troiacovo De Rosa Satta syndrome<br />
3661 M<strong>as</strong>troiacovo Gambi Segni syndrome<br />
3662 Maternal hy<strong>per</strong>phenylalaninemia<br />
3663 Maternally inherited Leigh syndrome<br />
3664 Matsouk<strong>as</strong> Liarikos Giannika syndrome<br />
3665 Maturity-onset diabetes <strong>of</strong> the young<br />
3666 Maturity-onset diabetes <strong>of</strong> the young, type 1<br />
3667 Maturity-onset diabetes <strong>of</strong> the young, type 2<br />
3668 Maturity-onset diabetes <strong>of</strong> the young, type 3<br />
3669 Maturity-onset diabetes <strong>of</strong> the young, type 4<br />
3670 Maturity-onset diabetes <strong>of</strong> the young, type 5<br />
3671 Maturity-onset diabetes <strong>of</strong> the young, type 6
3672 Maturity-onset diabetes <strong>of</strong> the young, type 7<br />
3673 Maturity-onset diabetes <strong>of</strong> the young, type 8<br />
3674 Maturity-onset diabetes <strong>of</strong> the young, type 9<br />
3675 Maumenee syndrome<br />
3676 Maxillary double lip<br />
3677 Maxill<strong>of</strong>acial dysostosis<br />
3678 Maxillon<strong>as</strong>al dyspl<strong>as</strong>ia, Binder type<br />
3679 Mayer-Rokitansky-Kuster-Hauser syndrome<br />
3680 McCallum Macadam Johnston syndrome<br />
3681 McCune Albright syndrome<br />
3682 McDonough syndrome<br />
3683 McDowall syndrome<br />
3684 McGillivray syndrome<br />
3685 McKusick Kaufman syndrome<br />
3686 McLeod neuroacanthocytosis syndrome<br />
3687 McPherson Clemens syndrome<br />
3688 McPherson Robertson Cammarano syndrome<br />
3689 MDP syndrome<br />
3690 Meacham Winn Culler syndrome<br />
3691 Me<strong>as</strong>les<br />
3692 Meckel syndrome<br />
3693 Meckel syndrome type 2<br />
3694 Meckel syndrome type 3<br />
3695 Meconium <strong>as</strong>piration syndrome<br />
3696 Medeira-Dennis-Donnai syndrome<br />
3697 Medial Medullary Syndrome<br />
3698 Median cleft <strong>of</strong> up<strong>per</strong> lip with polyps <strong>of</strong> facial skin <strong>and</strong> n<strong>as</strong>al<br />
mucosa<br />
3699 Median nodule <strong>of</strong> the up<strong>per</strong> lip<br />
3700 Medi<strong>as</strong>tinal endodermal sinus tumors<br />
3701 Medium-chain 3-ketoacyl-coa thiol<strong>as</strong>e deficiency<br />
3702 Medium-chain acyl-coenzyme A dehydrogen<strong>as</strong>e deficiency<br />
3703 Medrano Roldan syndrome<br />
3704 Medullary cystic kidney dise<strong>as</strong>e<br />
3705 Medullary cystic kidney dise<strong>as</strong>e 1<br />
3706 Medullary cystic kidney dise<strong>as</strong>e 2<br />
3707 Medullary sponge kidney<br />
3708 Medullobl<strong>as</strong>toma<br />
3709 Medullobl<strong>as</strong>toma, childhood<br />
3710 Meesmann corneal dystrophy
3711 Megacystis microcolon intestinal hypo<strong>per</strong>istalsis syndrome<br />
3712 Megaduodenum <strong>and</strong>/or megacystis<br />
3713 Megaepiphyseal dwarfism<br />
3714 Megalencephalic leukoencephalopathy with subcortical cysts<br />
3715 Megalencephaly, polymicrogyria, <strong>and</strong> hydrocephalus (MPPH)<br />
syndrome<br />
3716 Megalobl<strong>as</strong>tic anemia due to dihydr<strong>of</strong>olate reduct<strong>as</strong>e deficiency<br />
3717 Megalocornea - spherophakia - secondary glaucoma<br />
3718 Megalocornea mental retardation syndrome<br />
3719 Megalocytic interstitial nephritis<br />
3720 Megarbane Jalkh syndrome<br />
3721 Megarbane syndrome<br />
3722 Mehes syndrome<br />
3723 Mehta Lewis Patton syndrome<br />
3724 Meier Blumberg Imahorn syndrome<br />
3725 Meier-Gorlin syndrome<br />
3726 Meige syndrome<br />
3727 Meigel dise<strong>as</strong>e<br />
3728 Meinecke syndrome<br />
3729 Melanocytic lesions <strong>of</strong> CNS<br />
3730 Melanoma <strong>as</strong>trocytoma syndrome<br />
3731 Melanoma, familial<br />
3732 Meleda dise<strong>as</strong>e<br />
3733 Melhem Fahl syndrome<br />
3734 Meliodosis<br />
3735 Melkersson-Rosenthal syndrome<br />
3736 Melnick-Needles syndrome<br />
3737 Melorheostosis<br />
3738 Membranoproliferative glomerulonephritis type 2<br />
3739 Membranous nephropathy<br />
3740 Menetrier dise<strong>as</strong>e<br />
3741 Meningioma<br />
3742 Meningioma, spinal<br />
3743 Meningocele<br />
3744 Meningococcal infection<br />
3745 Meningococcemia<br />
3746 Meningoencephalocele<br />
3747 Menkes dise<strong>as</strong>e<br />
3748 Mental deficiency-epilepsy-endocrine disorders<br />
3749 Mental retardation anophthalmia craniosynostosis
3750 Mental retardation arachnodactyly hypotonia telangiect<strong>as</strong>ia<br />
3751 Mental retardation athetosis microphthalmia<br />
3752 Mental retardation cataracts calcified pinnae myopathy<br />
3753 Mental retardation coloboma slimness<br />
3754 Mental retardation dysmorphism hypogonadism diabetes<br />
3755 Mental retardation epilepsy<br />
3756 Mental retardation epilepsy bulbous nose<br />
3757 Mental retardation gynecom<strong>as</strong>tia obesity X-linked<br />
3758 Mental retardation hip luxation G6PD variant<br />
3759 Mental retardation hypocupremia hypobetalipoproteinemia<br />
3760 Mental retardation hypotonia skin hy<strong>per</strong>pigmentation<br />
3761 Mental retardation macrocephaly coarse facies hypotonia<br />
3762 Mental retardation microcephaly phalangeal facial<br />
3763 Mental retardation microcephaly unusual facies<br />
3764 Mental retardation Mietens Weber type<br />
3765 Mental retardation progressive sp<strong>as</strong>ticity<br />
3766 Mental retardation short stature deafness genital<br />
3767 Mental retardation short stature microcephaly eye<br />
3768 Mental retardation skeletal dyspl<strong>as</strong>ia abducens palsy<br />
3769 Mental retardation Smith Fineman Myers type<br />
3770 Mental retardation sp<strong>as</strong>ticity ectrodactyly<br />
3771 Mental retardation syndrome, Belgian type<br />
3772 Mental retardation Wolff type<br />
3773 Mental retardation X-linked borderline Maoa metabolism<br />
anomaly<br />
3774 Mental retardation X-linked dysmorphism<br />
3775 Mental retardation X-linked syndromic 11<br />
3776 Mental retardation X-linked syndromic 7<br />
3777 Mental retardation x-linked with cerebellar hypopl<strong>as</strong>ia <strong>and</strong><br />
distinctive facial appearance<br />
3778 Mental retardation X-linked, South African type<br />
3779 Mental retardation, epileptic seizures, hypogonadism <strong>and</strong><br />
hypogenitalism, microcephaly, <strong>and</strong> obesity<br />
3780 Mental retardation, keratoconus, febrile seizures, <strong>and</strong> sinoatrial<br />
block<br />
3781 Mental retardation, macrocephaly, short stature <strong>and</strong> crani<strong>of</strong>acial<br />
dysmorphism<br />
3782 Mental retardation, X-linked 14<br />
3783 Mental retardation, X-linked, nonspecific<br />
3784 Mental retardation-hypotonic facies syndrome X-linked, 1
3785 Mental retardation-polydactyly-uncombable hair<br />
3786 Meralgia paresthetica<br />
3787 Mercury poisoning<br />
3788 Merkel cell carcinoma<br />
3789 Merlob Grunebaum Reisner syndrome<br />
3790 Mesangial proliferative glomerulonephritis<br />
3791 Mesenteric artery ischemia<br />
3792 Mesomelia<br />
3793 Mesomelia-synostoses syndrome<br />
3794 Mesomelic dwarfism cleft palate camptodactyly<br />
3795 Mesomelic dwarfism <strong>of</strong> hypopl<strong>as</strong>tic tibia <strong>and</strong> radius type<br />
3796 Mesomelic dyspl<strong>as</strong>ia Kantaputra type<br />
3797 Mesomelic dyspl<strong>as</strong>ia Savarirayan type<br />
3798 Mesomelic dyspl<strong>as</strong>ia skin dimples<br />
3799 Metacarpals 4 <strong>and</strong> 5 fusion<br />
3800 Metachondromatosis<br />
3801 Metachromatic leukodystrophy<br />
3802 Metachromatic leukodystrophy due to saposin B deficiency<br />
3803 Metagonimi<strong>as</strong>is<br />
3804 Metaphyseal acroscyphodyspl<strong>as</strong>ia<br />
3805 Metaphyseal anadyspl<strong>as</strong>ia<br />
3806 Metaphyseal chondrodyspl<strong>as</strong>ia Schmid type<br />
3807 Metaphyseal chondrodyspl<strong>as</strong>ia Spahr type<br />
3808 Metaphyseal chondrodyspl<strong>as</strong>ia with cone-shaped epiphyses,<br />
normal hair, <strong>and</strong> normal h<strong>and</strong>s<br />
3809 Metaphyseal chondrodyspl<strong>as</strong>ia, others<br />
3810 Metaphyseal dysostosis mental retardation conductive deafness<br />
3811 Metaphyseal dyspl<strong>as</strong>ia maxillary hypopl<strong>as</strong>ia brachydactyly<br />
3812 Metaphyseal dyspl<strong>as</strong>ia without hypotrichosis<br />
3813 Metaphyseal undermodeling, spondylar dyspl<strong>as</strong>ia, <strong>and</strong> overgrowth<br />
3814 Metapl<strong>as</strong>tic carcinoma <strong>of</strong> the bre<strong>as</strong>t<br />
3815 Met<strong>as</strong>tatic insulinoma<br />
3816 Met<strong>as</strong>tatic squamous neck cancer with occult primary<br />
3817 Metatropic dyspl<strong>as</strong>ia<br />
3818 Methimazole antenatal infection<br />
3819 Methionine adenosyltransfer<strong>as</strong>e deficiency<br />
3820 Methyl mercury antenatal infection<br />
3821 Methylcobalamin deficiency cbl G type<br />
3822 Methylcobalamin deficiency, cbl E complementation type<br />
3823 Methylmalonic acidemia
3824 Methylmalonic acidemia with homocystinuria<br />
3825 Methylmalonic aciduria cblA type<br />
3826 Methylmalonic aciduria cblB type<br />
3827 Methylmalonic aciduria microcephaly cataract<br />
3828 Methylmalonic aciduria with homocystinuria cbl f<br />
3829 Methylmalonicacidemia with homocystinuria cbl d<br />
3830 Methylmalonyl-Coenzyme A mut<strong>as</strong>e deficiency<br />
3831 Mevalonic aciduria<br />
3832 MHC cl<strong>as</strong>s 1 deficiency<br />
3833 Michelin tire baby syndrome<br />
3834 Michels C<strong>as</strong>key syndrome<br />
3835 Michels syndrome<br />
3836 Mickleson syndrome<br />
3837 Microbrachycephaly ptosis cleft lip<br />
3838 Microcephalic osteodyspl<strong>as</strong>tic primordial dwarfism type 1<br />
3839 Microcephalic osteodyspl<strong>as</strong>tic primordial dwarfism type 2<br />
3840 Microcephalic primordial dwarfism Toriello type<br />
3841 Microcephaly<br />
3842 Microcephaly autosomal dominant<br />
3843 Microcephaly brain defect sp<strong>as</strong>ticity hy<strong>per</strong>natremia<br />
3844 Microcephaly cervical spine fusion anomalies<br />
3845 Microcephaly chorioretinopathy recessive form<br />
3846 Microcephaly deafness syndrome<br />
3847 Microcephaly glomerulonephritis Marfanoid habitus<br />
3848 Microcephaly hy<strong>per</strong>gonadotropic hypogonadism short stature<br />
3849 Microcephaly microcornea syndrome Seemanova type<br />
3850 Microcephaly micropenis convulsions<br />
3851 Microcephaly microphthalmos blindness<br />
3852 Microcephaly nonsyndromal<br />
3853 Microcephaly pontocerebellar hypopl<strong>as</strong>ia dyskinesia<br />
3854 Microcephaly seizures mental retardation heart disorders<br />
3855 Microcephaly sparse hair mental retardation seizures<br />
3856 Microcephaly with chorioretinopathy, autosomal dominant form<br />
3857 Microcephaly with sp<strong>as</strong>tic quadriplegia<br />
3858 Microcephaly, corpus callosum dysgenesis <strong>and</strong> cleft lip-palate<br />
3859 Microcephaly, hiatal hernia <strong>and</strong> nephrotic syndrome<br />
3860 Microcephaly, holoprosencephaly, <strong>and</strong> intrauterine growth<br />
retardation<br />
3861 Microcephaly, postnatal progressive, with seizures <strong>and</strong> brain<br />
atrophy
3862 Microcephaly, primary autosomal recessive<br />
3863 Microcephaly, seizures, <strong>and</strong> developmental delay<br />
3864 Microcephaly-albinism-digital anomalies syndrome<br />
3865 Microcephaly-cardiomyopathy<br />
3866 Microcoria, congenital<br />
3867 Microcornea posterior megalolenticonus <strong>per</strong>sistent fetal<br />
v<strong>as</strong>culature coloboma<br />
3868 Microcornea corectopia macular hypopl<strong>as</strong>ia<br />
3869 Microcornea, glaucoma, <strong>and</strong> absent frontal sinuses<br />
3870 Microcystic adnexal carcinoma<br />
3871 Microdeletion 15q11.2<br />
3872 Microdontia hypodontia short stature<br />
3873 Microencephaly<br />
3874 Microg<strong>as</strong>tria limb reduction defect<br />
3875 Microhydranencephaly<br />
3876 Micromelic bone dyspl<strong>as</strong>ia with cloverleaf skull<br />
3877 Microphthalmia <strong>as</strong>sociated with colobomatous cyst<br />
3878 Microphthalmia cataract<br />
3879 Microphthalmia mental deficiency<br />
3880 Microphthalmia microtia fetal akinesia<br />
3881 Microphthalmia syndromic 10<br />
3882 Microphthalmia syndromic 3<br />
3883 Microphthalmia syndromic 4<br />
3884 Microphthalmia syndromic 5<br />
3885 Microphthalmia syndromic 6<br />
3886 Microphthalmia syndromic 7<br />
3887 Microphthalmia syndromic 8<br />
3888 Microphthalmia syndromic 9<br />
3889 Microphthalmia, isolated, with corectopia<br />
3890 Microscopic polyangiitis<br />
3891 Microsomia hemifacial radial defects<br />
3892 Microspherophakia with hernia<br />
3893 Microsporidiosis<br />
3894 Microtia eye coloboma <strong>and</strong> im<strong>per</strong>foration <strong>of</strong> the n<strong>as</strong>olacrimal duct<br />
3895 Microtia, meatal atresia <strong>and</strong> conductive deafness<br />
3896 Microtia-Anotia<br />
3897 Microvillus inclusion dise<strong>as</strong>e<br />
3898 Midline cleft <strong>of</strong> lower lip<br />
3899 Midline lethal granuloma<br />
3900 Midphalangeal hair
3901 Mikulicz dise<strong>as</strong>e<br />
3902 Miles-Carpenter x-linked mental retardation syndrome<br />
3903 Miller-Dieker syndrome<br />
3904 Miller-Fisher syndrome<br />
3905 Milner Khallouf Gibson syndrome<br />
3906 Milroy dise<strong>as</strong>e<br />
3907 Minicore myopathy with external ophthalmoplegia<br />
3908 Minicore myopathy, antenatal onset, with arthrogryposis<br />
3909 Minimal change dise<strong>as</strong>e<br />
3910 Mirizzi syndrome<br />
3911 Mirror polydactyly segmentation <strong>and</strong> limbs defects<br />
3912 Mitochondrial complex I deficiency<br />
3913 Mitochondrial complex II deficiency<br />
3914 Mitochondrial complex III deficiency<br />
3915 Mitochondrial complex IV deficiency<br />
3916 Mitochondrial complex V deficiency<br />
3917 Mitochondrial dise<strong>as</strong>e with severe hypotonia, lactic acidaemia <strong>and</strong><br />
hy<strong>per</strong>ammonemia<br />
3918 Mitochondrial encephalomyopathy lactic acidosis <strong>and</strong> stroke-like<br />
episodes<br />
3919 Mitochondrial genetic disorders<br />
3920 Mitochondrial myopathy with diabetes<br />
3921 Mitochondrial myopathy with lactic acidosis<br />
3922 Mitochondrial neurog<strong>as</strong>trointestinal encephalopathy syndrome<br />
3923 Mitochondrial trifunctional protein deficiency<br />
3924 Mitral atresia<br />
3925 Mitral regurgitation, conductive deafness, <strong>and</strong> fusion <strong>of</strong> cervical<br />
vertebrae <strong>and</strong> <strong>of</strong> carpal <strong>and</strong> tarsal bones<br />
3926 Mitral valve prolapse, familial, autosomal dominant<br />
3927 Mitral valve prolapse, familial, X-linked<br />
3928 Miura syndrome<br />
3929 Mixed connective tissue dise<strong>as</strong>e<br />
3930 Mixed sclerosing bone dystrophy<br />
3931 Miyoshi myopathy<br />
3932 Moebius axonal neuropathy hypogonadism<br />
3933 Moebius syndrome<br />
3934 Mohr-Tranebjaerg syndrome<br />
3935 Mollaret meningitis<br />
3936 Moloney syndrome<br />
3937 Molybdenum c<strong>of</strong>actor deficiency
3938 MOMO syndrome<br />
3939 Mondini dyspl<strong>as</strong>ia<br />
3940 Mondor dise<strong>as</strong>e<br />
3941 Monilethrix<br />
3942 Monkeypox<br />
3943 Monoclonal gammopathy <strong>of</strong> undetermined significance<br />
3944 Monomelic amyotrophy<br />
3945 Mononeuritis multiplex<br />
3946 Montefiore syndrome<br />
3947 Morel's ear<br />
3948 Morgagni-Stewart-Morel syndrome<br />
3949 Morgellons<br />
3950 Morillo-Cucci-P<strong>as</strong>sarge syndrome<br />
3951 MORM syndrome<br />
3952 Morphea<br />
3953 Morquio syndrome A<br />
3954 Morquio syndrome B<br />
3955 Morquio syndrome C<br />
3956 Morse-Rawnsley-Sargent syndrome<br />
3957 Morvan's fibrillary chorea<br />
3958 Mosaic monosomy 18<br />
3959 Mosaic monosomy 22<br />
3960 Mosaic trisomy 13<br />
3961 Mosaic trisomy 14<br />
3962 Mosaic trisomy 22<br />
3963 Mosaic trisomy 6<br />
3964 Mosaic trisomy 7<br />
3965 Mosaic trisomy 8<br />
3966 Mosaic trisomy 9<br />
3967 Mosaic variegated aneuploidy syndrome<br />
3968 Motor neuro-ophthalmic disorders<br />
3969 Motor neuropathy <strong>per</strong>ipheral with dysautonomia<br />
3970 Motor sensory neuropathy type 1 apl<strong>as</strong>ia cutis congenita<br />
3971 Mounier-Kuhn syndrome<br />
3972 Mousa Al din Al N<strong>as</strong>sar syndrome<br />
3973 Mowat-Wilson syndrome<br />
3974 Moyamoya dise<strong>as</strong>e<br />
3975 MPV17-related hepatocerebral mitochondrial DNA depletion<br />
syndrome<br />
3976 MSBD syndrome
3977 Muckle-Wells syndrome<br />
3978 Mucoepidermoid carcinoma<br />
3979 Mucolipidosis III alpha/beta<br />
3980 Mucolipidosis type 4<br />
3981 Mucopolysaccharidosis<br />
3982 Mucopolysaccharidosis type I<br />
3983 Mucopolysaccharidosis type II<br />
3984 Mucopolysaccharidosis type III<br />
3985 Mucopolysaccharidosis type IIIA<br />
3986 Mucopolysaccharidosis type IIIB<br />
3987 Mucopolysaccharidosis type IIIC<br />
3988 Mucopolysaccharidosis type IIID<br />
3989 Mucopolysaccharidosis type VI<br />
3990 Mucopolysaccharidosis type VII<br />
3991 Muenke Syndrome<br />
3992 Muir-Torre syndrome<br />
3993 Mulibrey Nanism<br />
3994 Muller Barth Menger syndrome<br />
3995 Mullerian agenesis<br />
3996 Mullerian apl<strong>as</strong>ia<br />
3997 Multicentric C<strong>as</strong>tleman’s Dise<strong>as</strong>e<br />
3998 Multicentric osteolysis nephropathy<br />
3999 Multicentric reticulohistiocytosis<br />
4000 Multicore dise<strong>as</strong>e<br />
4001 Multicystic renal dyspl<strong>as</strong>ia, bilateral<br />
4002 Multifocal choroiditis<br />
4003 Multifocal fibrosclerosis<br />
4004 Multifocal lymphangioendotheliomatosis with thrombocytopenia<br />
4005 Multifocal motor neuropathy with conduction block<br />
4006 Multiple carboxyl<strong>as</strong>e deficiency, biotin responsive<br />
4007 Multiple carboxyl<strong>as</strong>e deficiency, propionic acidemia<br />
4008 Multiple congenital anomalies mental retardation, growth failure<br />
<strong>and</strong> cleft lip palate<br />
4009 Multiple endocrine neopl<strong>as</strong>ia type 1<br />
4010 Multiple endocrine neopl<strong>as</strong>ia type 2<br />
4011 Multiple endocrine neopl<strong>as</strong>ia type 2A<br />
4012 Multiple endocrine neopl<strong>as</strong>ia type 2B<br />
4013 Multiple epiphyseal dyspl<strong>as</strong>ia<br />
4014 Multiple epiphyseal dyspl<strong>as</strong>ia 1<br />
4015 Multiple epiphyseal dyspl<strong>as</strong>ia 2
4016 Multiple epiphyseal dyspl<strong>as</strong>ia 3<br />
4017 Multiple epiphyseal dyspl<strong>as</strong>ia 4<br />
4018 Multiple epiphyseal dyspl<strong>as</strong>ia 5<br />
4019 Multiple familial trichoepithelioma<br />
4020 Multiple familial trichoepithelioma 1<br />
4021 Multiple familial trichoepithelioma 2<br />
4022 Multiple fibr<strong>of</strong>olliculoma familial<br />
4023 Multiple joint dislocations metaphyseal dyspl<strong>as</strong>ia<br />
4024 Multiple myeloma<br />
4025 Multiple pterygium syndrome Aslan type<br />
4026 Multiple pterygium syndrome Escobar type<br />
4027 Multiple pterygium syndrome lethal type<br />
4028 Multiple pterygium syndrome X-linked<br />
4029 Multiple respiratory chain enzyme deficiencies<br />
4030 Multiple self healing squamous epithelioma<br />
4031 Multiple sulfat<strong>as</strong>e deficiency<br />
4032 Multiple synostoses syndrome 1<br />
4033 Multiple synostoses syndrome 2<br />
4034 Multiple system atrophy<br />
4035 Multiple system atrophy (MSA) with orthostatic hypotension<br />
4036 Multiple vertebral anomalies unusual facies<br />
4037 Mumps<br />
4038 Munchausen by proxy syndrome<br />
4039 Mungan syndrome<br />
4040 MURCS <strong>as</strong>sociation<br />
4041 Muscle eye brain dise<strong>as</strong>e<br />
4042 Muscular atrophy ataxia retinitis pigmentosa <strong>and</strong> diabetes mellitus<br />
4043 Muscular dystrophy<br />
4044 Muscular Dystrophy - Late Onset<br />
4045 Muscular dystrophy limb girdle type 2A, Erb type<br />
4046 Muscular dystrophy white matter spongiosis<br />
4047 Muscular dystrophy, congenital, infantile with cataract <strong>and</strong><br />
hypogonadism<br />
4048 Muscular dystrophy, congenital, megaconial type<br />
4049 Muscular dystrophy, congenital, merosin-positive<br />
4050 Muscular fibrosis multifocal obstructed vessels<br />
4051 Muscular phosphoryl<strong>as</strong>e kin<strong>as</strong>e deficiency<br />
4052 Mutagen sensitivity<br />
4053 Mutiple parosteal osteochondromatous proliferations<br />
4054 Myalgia eosinophilia <strong>as</strong>sociated with tryptophan
4055 My<strong>as</strong>thenia gravis<br />
4056 My<strong>as</strong>thenia gravis congenital<br />
4057 My<strong>as</strong>thenia gravis, limb-girdle<br />
4058 Mycetoma<br />
4059 Mycobacterium Abscessus<br />
4060 Mycobacterium Avium Complex<br />
4061 Mycobacterium Chelonae<br />
4062 Mycobacterium fortuitum<br />
4063 Mycobacterium Gordonae<br />
4064 Mycobacterium Kans<strong>as</strong>ii<br />
4065 Mycobacterium Malmoense<br />
4066 Mycobacterium Marinum<br />
4067 Mycobacterium tuberculosis, susceptibility to infection by<br />
4068 Mycobacterium Xenopi<br />
4069 Mycopl<strong>as</strong>mal pneumonia<br />
4070 Mycosis fungoides<br />
4071 Myelitis<br />
4072 Myelocerebellar disorder<br />
4073 Myelocytic leukemia-like syndrome, familial, chronic<br />
4074 Myelodyspl<strong>as</strong>tic syndromes<br />
4075 Myelodyspl<strong>as</strong>tic/myeloproliferative dise<strong>as</strong>e<br />
4076 Myel<strong>of</strong>ibrosis<br />
4077 Myeloid sarcoma<br />
4078 Myeloid splenomegaly<br />
4079 Myelomeningocele<br />
4080 Myelo<strong>per</strong>oxid<strong>as</strong>e deficiency<br />
4081 MYH7-related scapulo<strong>per</strong>oneal myopathy<br />
4082 MYH9 related thrombocytopenia<br />
4083 MYH-<strong>as</strong>sociated polyposis<br />
4084 Myhre syndrome<br />
4085 Myocarditis<br />
4086 Myoclonic <strong>as</strong>tatic epilepsy<br />
4087 Myoclonus ataxia<br />
4088 Myoclonus cerebellar ataxia deafness<br />
4089 Myoclonus epilepsy<br />
4090 Myoclonus epilepsy partial seizure<br />
4091 Myoclonus hereditary progressive distal muscular atrophy<br />
4092 Myoclonus with epilepsy with ragged red fibers<br />
4093 Myoepithelial carcinoma<br />
4094 My<strong>of</strong>ibrillar lysis
4095 My<strong>of</strong>ibrillar myopathy<br />
4096 Myoglobinuria dominant form<br />
4097 Myoglobinuria recurrent<br />
4098 Myokymia with neonatal epilepsy<br />
4099 Myopathic carnitine deficiency<br />
4100 Myopathy congenital<br />
4101 Myopathy congenital multicore with external ophthalmoplegia<br />
4102 Myopathy growth <strong>and</strong> mental retardation hypospadi<strong>as</strong><br />
4103 Myopathy mitochondrial cataract<br />
4104 Myopathy with lysis <strong>of</strong> my<strong>of</strong>ibrils<br />
4105 Myopathy, limb-girdle, with bone fragility<br />
4106 Myopathy, mitochondrial progressive, with congenital cataract,<br />
hearing loss, <strong>and</strong> developmental delay<br />
4107 Myopia 6<br />
4108 Myostatin-related muscle hy<strong>per</strong>trophy<br />
4109 Myotonia atrophica<br />
4110 Myotonia congenita autosomal dominant<br />
4111 Myotonia congenita autosomal recessive<br />
4112 Myotonia mental retardation skeletal anomalies<br />
4113 Myotonic dystrophy<br />
4114 Myotonic dystrophy type 1<br />
4115 Myotonic dystrophy type 2<br />
4116 Myotubular myopathy<br />
4117 Myxoid liposarcoma<br />
4118 Myxoma-spotty pigmentation-endocrine overactivity<br />
4119 Myxopapillary ependymoma<br />
4120 Myxozoa<br />
4121 N acetyltransfer<strong>as</strong>e deficiency<br />
4122 N syndrome<br />
4123 Nablus m<strong>as</strong>k-like facial syndrome<br />
4124 N-acetyl-alpha-D-galactosaminid<strong>as</strong>e deficiency type III<br />
4125 N-acetylglutamate synthet<strong>as</strong>e deficiency<br />
4126 NADH cytochrome B5 reduct<strong>as</strong>e deficiency<br />
4127 Naegeli syndrome<br />
4128 Nager acr<strong>of</strong>acial dysostosis<br />
4129 Naguib-Richieri-Costa syndrome<br />
4130 Nail dyspl<strong>as</strong>ia, isolated congenital<br />
4131 Nail patella syndrome<br />
4132 Nakajo Nishimura syndrome<br />
4133 Nakajo syndrome
4134 Nance-Horan syndrome<br />
4135 Narcolepsy<br />
4136 Narrow oral fissure short stature cone shaped epiphyses<br />
4137 N<strong>as</strong>al cavity cancer, childhood<br />
4138 N<strong>as</strong>al polyposis, familial<br />
4139 N<strong>as</strong>odigitoacoustic syndrome<br />
4140 N<strong>as</strong>opalpebral lipoma coloboma syndrome<br />
4141 N<strong>as</strong>opharyngeal cancer, childhood<br />
4142 N<strong>as</strong>opharyngeal carcinoma<br />
4143 Natal teeth, intestinal pseudoobstruction <strong>and</strong> patent ductus<br />
4144 Nathalie syndrome<br />
4145 Native American myopathy<br />
4146 Naxos dise<strong>as</strong>e<br />
4147 Necrobiotic xanthogranuloma<br />
4148 Necrotizing enterocolitis<br />
4149 Necrotizing f<strong>as</strong>ciitis<br />
4150 Negative rheumatoid factor polyarthritis<br />
4151 Neisseria meningitidis infection<br />
4152 Nelson syndrome<br />
4153 Nemaline myopathy 1<br />
4154 Nemaline myopathy 2<br />
4155 Nemaline myopathy 3<br />
4156 Nemaline myopathy 4<br />
4157 Nemaline myopathy 5<br />
4158 Nemaline myopathy 6<br />
4159 Neonatal adrenoleukodystrophy<br />
4160 Neonatal hemochromatosis<br />
4161 Neonatal herpes<br />
4162 Neonatal hypothyroidism<br />
4163 Neonatal intrahepatic cholest<strong>as</strong>is caused by citrin deficiency<br />
4164 Neonatal meningitis<br />
4165 Neonatal ovarian cyst<br />
4166 Neonatal progeroid syndrome<br />
4167 Neonatal stroke<br />
4168 Neonatal systemic lupus erythematosus<br />
4169 Nephrocalcinosis<br />
4170 Nephrogenic diabetes insipidus<br />
4171 Nephrogenic Systemic Fibrosis<br />
4172 Nephronophthisis 1<br />
4173 Nephronophthisis familial adult sp<strong>as</strong>tic quadriparesis
4174 Nephropathic cystinosis<br />
4175 Nephropathy familial with hy<strong>per</strong>uricemia<br />
4176 Nephropathy, deafness, <strong>and</strong> hy<strong>per</strong>parathyroidism<br />
4177 Nephrosclerosis<br />
4178 Nephrosis deafness urinary tract digital malformation<br />
4179 Nephrotic syndrome ocular anomalies<br />
4180 Nephrotic syndrome, idiopathic, steroid-resistant<br />
4181 Nerve sheath neopl<strong>as</strong>m<br />
4182 Netherton syndrome<br />
4183 Neu Laxova syndrome<br />
4184 Neuhauser Daly Magnelli syndrome<br />
4185 Neuhauser Eichner Opitz syndrome<br />
4186 Neural crest tumor<br />
4187 Neuroacanthocytosis<br />
4188 Neuroaxonal dystrophy renal tubular acidosis<br />
4189 Neuroaxonal dystrophy, infantile<br />
4190 Neurobl<strong>as</strong>toma<br />
4191 Neurocutaneous melanosis<br />
4192 Neuroectodermal endocrine syndrome<br />
4193 Neuroendocrine carcinoma <strong>of</strong> the cervix<br />
4194 Neuroepithelioma<br />
4195 Neur<strong>of</strong>aciodigitorenal syndrome<br />
4196 Neur<strong>of</strong>erritinopathy<br />
4197 Neur<strong>of</strong>ibroma<br />
4198 Neur<strong>of</strong>ibromatosis<br />
4199 Neur<strong>of</strong>ibromatosis type 1<br />
4200 Neur<strong>of</strong>ibromatosis type 2<br />
4201 Neur<strong>of</strong>ibromatosis type 3A<br />
4202 Neur<strong>of</strong>ibromatosis type 3B<br />
4203 Neur<strong>of</strong>ibromatosis type 4<br />
4204 Neur<strong>of</strong>ibromatosis type 5<br />
4205 Neur<strong>of</strong>ibromatosis type 6<br />
4206 Neur<strong>of</strong>ibromatosis-Noonan syndrome<br />
4207 Neur<strong>of</strong>ibromatosis-pheochromocytoma-duodenal carcinoid<br />
syndrome<br />
4208 Neur<strong>of</strong>ibrosarcoma<br />
4209 Neurogenic diabetes insipidus<br />
4210 Neurogenic hy<strong>per</strong>tension<br />
4211 Neuroleptic malignant syndrome<br />
4212 Neuroma biliary tract
4213 Neuromyelitis optica spectrum disorder<br />
4214 Neuronal ceroid lip<strong>of</strong>uscinoses<br />
4215 Neuronal interstitial dyspl<strong>as</strong>ia<br />
4216 Neuronal intranuclear inclusion dise<strong>as</strong>e<br />
4217 Neuropathy ataxia retinitis pigmentosa syndrome<br />
4218 Neuropathy hereditary sensory <strong>and</strong> autonomic type 1<br />
4219 Neuropathy sensory sp<strong>as</strong>tic paraplegia<br />
4220 Neuropathy, congenital, with arthrogryposis multiplex<br />
4221 Neuropathy, distal hereditary motor, Jer<strong>as</strong>h type<br />
4222 Neuropathy, hereditary motor <strong>and</strong> sensory, LOM type<br />
4223 Neuropathy, hereditary motor <strong>and</strong> sensory, Okinawa type<br />
4224 Neuropathy, hereditary motor <strong>and</strong> sensory, Russe type<br />
4225 Neurosyphilis<br />
4226 Neurotoxicity syndromes<br />
4227 Neutral lipid storage dise<strong>as</strong>e with myopathy<br />
4228 Neutropenia chronic familial<br />
4229 Neutropenia lethal congenital with eosinophilia<br />
4230 Neutropenia monocytopenia deafness<br />
4231 Neutrophil-specific granule deficiency<br />
4232 Nevi flammei, familial multiple<br />
4233 Nevo syndrome<br />
4234 Nevoid b<strong>as</strong>al cell carcinoma syndrome<br />
4235 Nevus <strong>of</strong> Ito<br />
4236 New daily-<strong>per</strong>sistent headache<br />
4237 Nguyen syndrome<br />
4238 Nicolaides Baraitser syndrome<br />
4239 Niemann-Pick dise<strong>as</strong>e<br />
4240 Niemann-Pick dise<strong>as</strong>e type B<br />
4241 Niemann-Pick dise<strong>as</strong>e type C1<br />
4242 Niemann-Pick dise<strong>as</strong>e type C2<br />
4243 Niemann-Pick dise<strong>as</strong>e type D<br />
4244 Nievergelt syndrome<br />
4245 Night blindness skeletal anomalies unusual facies<br />
4246 Nijmegen breakage syndrome<br />
4247 Nipah virus encephalitis<br />
4248 Noble B<strong>as</strong>s Sherman syndrome<br />
4249 Nocardiosis<br />
4250 Nodular melanoma<br />
4251 Nodular nonsuppurative panniculitis<br />
4252 Nodular regenerative hy<strong>per</strong>pl<strong>as</strong>ia
4253 Noma<br />
4254 Non 24 hour sleep wake disorder<br />
4255 Non functioning pancreatic endocrine tumor<br />
4256 Non-A-E hepatitis<br />
4257 Nonalcoholic steatohepatitis<br />
4258 Nonbullous congenital ichthyosiform erythroderma<br />
4259 Nondystrophic myotonia<br />
4260 Non-dystrophic myotonic disorders<br />
4261 Non-Hodgkin lymphoma, childhood<br />
4262 Non-Hodgkin lymphoma, during pregnancy<br />
4263 Non-involuting congenital hemangioma<br />
4264 Non-lissencephalic cortical dyspl<strong>as</strong>ia<br />
4265 Nonmedullary thyroid carcinoma, with or without cell oxyphilia<br />
4266 Nonseminomatous germ cell tumor<br />
4267 Non-small cell lung cancer, childhood<br />
4268 Nonspherocytic hemolytic anemia due to hexokin<strong>as</strong>e deficiency<br />
4269 Nonsyndromic hereditary sensorineural hearing loss<br />
4270 Noonan syndrome<br />
4271 Noonan syndrome 1<br />
4272 Noonan syndrome 2<br />
4273 Noonan syndrome 3<br />
4274 Noonan syndrome 4<br />
4275 Noonan syndrome 5<br />
4276 Noonan syndrome 6<br />
4277 Noonan-like syndrome with loose anagen hair<br />
4278 Noonan-like/multiple giant cell lesion syndrome<br />
4279 Normokalemic <strong>per</strong>iodic paralysis<br />
4280 Normophosphatemic familial tumoral calcinosis<br />
4281 Norrie dise<strong>as</strong>e<br />
4282 North Carolina macular dystrophy<br />
4283 Norum dise<strong>as</strong>e<br />
4284 Notalgia paresthetica<br />
4285 Nova syndrome<br />
4286 Novak syndrome<br />
4287 Nuchal bleb, familial<br />
4288 Nystagmus 1, congenital, X- linked<br />
4289 Nystagmus 2, congenital, autosomal dominant<br />
4290 Nystagmus 3, congenital, autosomal dominant<br />
4291 Nystagmus 4, congenital, autosomal dominant<br />
4292 Nystagmus, congenital motor, autosomal recessive
4293 Nystagmus, hereditary vertical<br />
4294 Nystagmus, myoclonic<br />
4295 O Donnell Papp<strong>as</strong> syndrome<br />
4296 Occipital horn syndrome<br />
4297 Occult spinal dysraphism<br />
4298 Ochoa syndrome<br />
4299 Ochronosis<br />
4300 Ocular albinism type 1<br />
4301 Ocular cicatricial pemphigoid<br />
4302 Ocular colobom<strong>as</strong>, ichthyosis, brain malformations <strong>and</strong> endocrine<br />
abnormalities<br />
4303 Ocular melanoma<br />
4304 Ocular motility disorders<br />
4305 Ocular Muscular Dystrophy<br />
4306 Ocular neuromyotonia<br />
4307 Ocular toxopl<strong>as</strong>mosis<br />
4308 Oculo cerebro acral syndrome<br />
4309 Oculo cerebro osseous syndrome<br />
4310 Oculo digital syndrome<br />
4311 Oculo skeletal renal syndrome<br />
4312 Oculoauricul<strong>of</strong>ronton<strong>as</strong>al syndrome<br />
4313 Oculo-cerebral dyspl<strong>as</strong>ia<br />
4314 Oculocerebral hypopigmentation syndrome type Preus<br />
4315 Oculocerebral syndrome with hypopigmentation<br />
4316 Oculocerebrocutaneous syndrome<br />
4317 Oculocutaneous albinism<br />
4318 Oculocutaneous albinism type 1<br />
4319 Oculocutaneous albinism type 1B<br />
4320 Oculocutaneous albinism type 2<br />
4321 Oculocutaneous albinism type 3<br />
4322 Oculodentodigital dyspl<strong>as</strong>ia<br />
4323 Oculodentodigital dyspl<strong>as</strong>ia dominant<br />
4324 Oculodentoosseous dyspl<strong>as</strong>ia recessive<br />
4325 Oculoectodermal syndrome<br />
4326 Ocul<strong>of</strong>aciocardiodental syndrome<br />
4327 Oculomaxill<strong>of</strong>acial dysostosis<br />
4328 Oculomotor apraxia Cogan type<br />
4329 Oculoot<strong>of</strong>acial dyspl<strong>as</strong>ia<br />
4330 Oculopharyngeal muscular dystrophy<br />
4331 Oculorenocerebellar syndrome
4332 Odonto onycho dyspl<strong>as</strong>ia with alopecia<br />
4333 Odontogenic myxoma<br />
4334 Odontoma<br />
4335 Odontoma dysphagia syndrome<br />
4336 Odontomicronychial dyspl<strong>as</strong>ia<br />
4337 Odontoonychodermal dyspl<strong>as</strong>ia<br />
4338 Ogilvie syndrome<br />
4339 Oguchi dise<strong>as</strong>e<br />
4340 Ohtahara syndrome<br />
4341 Okamoto syndrome<br />
4342 Oligo<strong>as</strong>trocytoma<br />
4343 Oligodactyly tetramelic postaxial<br />
4344 Oligodendroglioma<br />
4345 Oligomeganephronic renal hypopl<strong>as</strong>ia<br />
4346 Oliver syndrome<br />
4347 Olivopontocerebellar atrophy<br />
4348 Olivopontocerebellar atrophy deafness<br />
4349 Ollier dise<strong>as</strong>e<br />
4350 Olmsted syndrome<br />
4351 Omenn syndrome<br />
4352 Omodyspl<strong>as</strong>ia 1<br />
4353 Omodyspl<strong>as</strong>ia 2<br />
4354 Omphalocele cleft palate syndrome lethal<br />
4355 Omphalocele exstrophy im<strong>per</strong>forate anus<br />
4356 Omphalomesenteric cyst<br />
4357 Omsk hemorrhagic fever<br />
4358 Onchocerci<strong>as</strong>is<br />
4359 Oncogenic osteomalacia<br />
4360 Onychotrichodyspl<strong>as</strong>ia <strong>and</strong> neutropenia<br />
4361 Ophthalmoplegic Muscular dystrophy<br />
4362 Opisthorchi<strong>as</strong>is<br />
4363 Opitz G/BBB syndrome<br />
4364 Opsismodyspl<strong>as</strong>ia<br />
4365 Opthalmic icthyosis<br />
4366 Opthalmom<strong>and</strong>ibulomelic dyspl<strong>as</strong>ia<br />
4367 Opthalmoplegia mental retardation lingua scrotalis<br />
4368 Opthalmoplegia myalgia tubular aggregates<br />
4369 Opthalmoplegia progressive external scoliosis<br />
4370 Optic atrophy 1<br />
4371 Optic atrophy 1 <strong>and</strong> deafness
4372 Optic atrophy 2<br />
4373 Optic atrophy 5<br />
4374 Optic atrophy 6<br />
4375 Optic atrophy <strong>and</strong> cataract, autosomal dominant<br />
4376 Optic atrophy opthalmoplegia ptosis deafness myopia<br />
4377 Optic atrophy polyneuropathy deafness<br />
4378 Optic nerve hypopl<strong>as</strong>ia, familial bilateral<br />
4379 Optic neuritis<br />
4380 Optic neuropathy, anterior ischemic<br />
4381 Optic pathway glioma<br />
4382 Opticoacoustic nerve atrophy dementia<br />
4383 Oral cancer<br />
4384 Oral leukoplakia<br />
4385 Oral lichen planus<br />
4386 Oral pharyngeal disorders<br />
4387 Oral squamous cell carcinoma<br />
4388 Oral submucous fibrosis<br />
4389 Orbital lymphangioma<br />
4390 Orbital lymphoma<br />
4391 Orbital melanoma<br />
4392 Orbital varix<br />
4393 Organic acidemia<br />
4394 Organic mood syndrome<br />
4395 Ornithine transcarbamyl<strong>as</strong>e deficiency<br />
4396 Ornithine transloc<strong>as</strong>e deficiency syndrome<br />
4397 Ornithinemia<br />
4398 Or<strong>of</strong>aciodigital syndrome 1<br />
4399 Or<strong>of</strong>aciodigital syndrome 10<br />
4400 Or<strong>of</strong>aciodigital syndrome 11<br />
4401 Or<strong>of</strong>aciodigital syndrome 12<br />
4402 Or<strong>of</strong>aciodigital syndrome 13<br />
4403 Or<strong>of</strong>aciodigital syndrome 2<br />
4404 Or<strong>of</strong>aciodigital syndrome 3<br />
4405 Or<strong>of</strong>aciodigital syndrome 4<br />
4406 Or<strong>of</strong>aciodigital syndrome 5<br />
4407 Or<strong>of</strong>aciodigital syndrome 6<br />
4408 Or<strong>of</strong>aciodigital syndrome 8<br />
4409 Or<strong>of</strong>aciodigital syndrome 9<br />
4410 Or<strong>of</strong>aciodigital syndromes<br />
4411 Oro-m<strong>and</strong>ibular-limb hypogenesis syndrome
4412 Oropharyngeal cancer, adult<br />
4413 Oropharyngeal cancer, childhood<br />
4414 Orotic aciduria type 1<br />
4415 Orstavik Lindemann Solberg syndrome<br />
4416 Oslam syndrome<br />
4417 OSMED Syndrome<br />
4418 Ossicular Malformations, familial<br />
4419 Ossification <strong>of</strong> the posterior longitudinal ligament <strong>of</strong> the spine<br />
4420 Osteoarthropathy <strong>of</strong> fingers familial<br />
4421 Osteochondritis dissecans<br />
4422 Osteochondroma<br />
4423 Osteodyspl<strong>as</strong>ia familial Anderson type<br />
4424 Osteodyspl<strong>as</strong>ty precocious <strong>of</strong> Danks Mayne <strong>and</strong> Kozlowski<br />
4425 Osteoect<strong>as</strong>ia familial<br />
4426 Oste<strong>of</strong>ibrous dyspl<strong>as</strong>ia<br />
4427 Osteogenesis im<strong>per</strong>fecta<br />
4428 Osteogenesis im<strong>per</strong>fecta congenita microcephaly <strong>and</strong> cataracts<br />
4429 Osteogenesis im<strong>per</strong>fecta Levin type<br />
4430 Osteogenesis im<strong>per</strong>fecta type 1<br />
4431 Osteogenesis im<strong>per</strong>fecta type 1A<br />
4432 Osteogenesis im<strong>per</strong>fecta type 2A<br />
4433 Osteogenesis im<strong>per</strong>fecta type 2B<br />
4434 Osteogenesis im<strong>per</strong>fecta type 3<br />
4435 Osteogenesis im<strong>per</strong>fecta type 4<br />
4436 Osteogenesis im<strong>per</strong>fecta type 5<br />
4437 Osteogenesis im<strong>per</strong>fecta type 6<br />
4438 Osteogenesis im<strong>per</strong>fecta type 7<br />
4439 Osteogenesis im<strong>per</strong>fecta type 8<br />
4440 Osteogenesis im<strong>per</strong>fecta type 9<br />
4441 Osteoglophonic dyspl<strong>as</strong>ia<br />
4442 Osteolysis syndrome recessive<br />
4443 Osteomalacia<br />
4444 Osteomyelitis<br />
4445 Osteopathia striata cranial sclerosis<br />
4446 Osteopathia striata with pigmentary dermopathy including white<br />
forelock<br />
4447 Osteopenia <strong>and</strong> sparse hair<br />
4448 Osteopetrosis<br />
4449 Osteopetrosis <strong>and</strong> infantile neuroaxonal dystrophy<br />
4450 Osteopetrosis autosomal dominant type 1
4451 Osteopetrosis autosomal dominant type 2<br />
4452 Osteopetrosis autosomal recessive 1<br />
4453 Osteopetrosis autosomal recessive 2<br />
4454 Osteopetrosis autosomal recessive 3<br />
4455 Osteopetrosis autosomal recessive 4<br />
4456 Osteopetrosis autosomal recessive 5<br />
4457 Osteopetrosis autosomal recessive 6<br />
4458 Osteopetrosis autosomal recessive 7<br />
4459 Osteopoikilosis<br />
4460 Osteopoikilosis <strong>and</strong> dacryocystitis<br />
4461 Osteoporosis oculocutaneous hypopigmentation syndrome<br />
4462 Osteoporosis-pseudoglioma syndrome<br />
4463 Osteosarcoma<br />
4464 Osteosclerosis abnormalities <strong>of</strong> nervous system <strong>and</strong> meninges<br />
4465 Osteosclerosis with ichthyosis <strong>and</strong> premature ovarian failure<br />
4466 Otodental dyspl<strong>as</strong>ia<br />
4467 Ot<strong>of</strong>aciocervical syndrome<br />
4468 Otoonycho<strong>per</strong>oneal syndrome<br />
4469 Oto-Palatal-digital syndrome<br />
4470 Oto-palato-digital syndrome type 1<br />
4471 Oto-palato-digital syndrome type 2<br />
4472 Otosclerosis, familial<br />
4473 Ouvrier Billson syndrome<br />
4474 Ovarian cancer<br />
4475 Ovarian cancer, childhood<br />
4476 Ovarian carcinosarcoma<br />
4477 Ovarian epithelial cancer<br />
4478 Ovarian germ cell tumor<br />
4479 Ovarian insufficiency due to FSH resistance<br />
4480 Ovarian insufficiency, familial<br />
4481 Ovarian low malignant potential tumor<br />
4482 Ovarian remnant syndrome<br />
4483 Ovarian small cell carcinoma<br />
4484 Overgrowth radial ray defect arthrogryposis<br />
4485 Pachydermo<strong>per</strong>iostosis<br />
4486 Pachygyria<br />
4487 Pachygyria with mental retardation <strong>and</strong> seizures<br />
4488 Pachygyria, frontotemporal<br />
4489 Pachyonychia congenita<br />
4490 Pachyonychia congenita type 1
4491 Pachyonychia congenita type 2<br />
4492 Pacman dyspl<strong>as</strong>ia<br />
4493 Paget dise<strong>as</strong>e <strong>of</strong> bone, familial<br />
4494 Paget dise<strong>as</strong>e <strong>of</strong> the bre<strong>as</strong>t<br />
4495 Paget dise<strong>as</strong>e, extramammary<br />
4496 Paget dise<strong>as</strong>e, juvenile<br />
4497 PAGOD syndrome<br />
4498 Pagon Stephan syndrome<br />
4499 Paine syndrome<br />
4500 Palant cleft palate syndrome<br />
4501 Palatopharyngeal incompetence<br />
4502 Pallidopyramidal syndrome<br />
4503 Pallister W syndrome<br />
4504 Pallister-Hall syndrome<br />
4505 Pallister-Killian mosaic syndrome<br />
4506 Palmer Pagon syndrome<br />
4507 Palmoplantar keratoderma<br />
4508 Palmoplantar keratoderma <strong>of</strong> Sybert<br />
4509 Palmoplantar keratoderma, epidermolytic<br />
4510 Pancreatic adenoma<br />
4511 Pancreatic agenesis<br />
4512 Pancreatic beta cell agenesis with neonatal diabetes mellitus<br />
4513 Pancreatic cancer<br />
4514 Pancreatic cancer, childhood<br />
4515 Pancreatic carcinoma, familial<br />
4516 Pancreatic islet cell tumors<br />
4517 Pancreatic lipomatosis duodenal stenosis<br />
4518 Pancreatitis, pediatric<br />
4519 Pancreatobl<strong>as</strong>toma<br />
4520 PANDAS<br />
4521 Panhypopituitarism X-linked<br />
4522 Panostotic fibrous dyspl<strong>as</strong>ia<br />
4523 Pantothenate kin<strong>as</strong>e-<strong>as</strong>sociated neurodegeneration<br />
4524 Panuveitis<br />
4525 Papillary cystadenocarcinoma<br />
4526 Papillary eccrine adenoma<br />
4527 Papillary renal cell carcinoma<br />
4528 Papilledema<br />
4529 Papillon Lefevre syndrome<br />
4530 Papular mucinosis
4531 Papular urticaria<br />
4532 Paracoccidioidomycosis<br />
4533 Paraganglioma <strong>and</strong> g<strong>as</strong>tric stromal sarcoma<br />
4534 Paragangliom<strong>as</strong> 1<br />
4535 Paragangliom<strong>as</strong> 2<br />
4536 Paragangliom<strong>as</strong> 3<br />
4537 Paragangliom<strong>as</strong> 4<br />
4538 Paragonimi<strong>as</strong>is<br />
4539 Parainfluenza virus type 3<br />
4540 Paralysis agitans, juvenile, <strong>of</strong> Hunt<br />
4541 Paramyotonia congenita<br />
4542 Paran<strong>as</strong>al sinus cancer, adult<br />
4543 Paran<strong>as</strong>al sinus cancer, childhood<br />
4544 Paraneopl<strong>as</strong>tic cerebellar degeneration<br />
4545 Paraneopl<strong>as</strong>tic Neurologic Disorders<br />
4546 Paraomphalocele<br />
4547 Paraplegia<br />
4548 Parapsori<strong>as</strong>is<br />
4549 Paraquat lung<br />
4550 Par<strong>as</strong>tremmatic dwarfism<br />
4551 Parathyroid cancer, childhood<br />
4552 Parathyroid carcinoma<br />
4553 PARC syndrome<br />
4554 Parenchymatous cortical degeneration <strong>of</strong> cerebellum<br />
4555 Paris-Trousseau thrombocytopenia<br />
4556 Parkes Weber syndrome<br />
4557 Parkinson dise<strong>as</strong>e type 3<br />
4558 Parkinson dise<strong>as</strong>e type 9<br />
4559 Parkinsonism, early onset with mental retardation<br />
4560 Paroxysmal cold hemoglobinuria<br />
4561 Paroxysmal hemicrania<br />
4562 Paroxysmal nocturnal hemoglobinuria<br />
4563 Paroxysmal ventricular fibrillation<br />
4564 Pars planitis<br />
4565 Parsonage Turner syndrome<br />
4566 Partial agenesis <strong>of</strong> corpus callosum<br />
4567 Partial atrioventricular canal<br />
4568 Partial deletion <strong>of</strong> Y<br />
4569 Partial lissencephaly<br />
4570 Partington Anderson syndrome
4571 Partington X-linked mental retardation syndrome<br />
4572 Parvovirus antenatal infection<br />
4573 P<strong>as</strong>sos-Bueno syndrome<br />
4574 P<strong>as</strong>teurella multocida infection<br />
4575 Patel Bixler syndrome<br />
4576 Patella hypopl<strong>as</strong>ia mental retardation<br />
4577 Patent ductus arteriosus<br />
4578 Patent ductus venosus<br />
4579 Patterned dystrophy <strong>of</strong> retinal pigment epithelium<br />
4580 Patterson pseudoleprechaunism syndrome<br />
4581 Patterson Stevenson syndrome<br />
4582 Pauciarticular chronic arthritis<br />
4583 Pauciarticular onset juvenile idiopathic arthritis<br />
4584 Pearson syndrome<br />
4585 Pectus carinatum<br />
4586 Pediatric Crohns dise<strong>as</strong>e<br />
4587 Pediatric multiple sclerosis<br />
4588 Pediatric T-cell leukemia<br />
4589 Pediatric ulcerative colitis<br />
4590 Peeling skin syndrome<br />
4591 PEHO syndrome<br />
4592 Pelger-Huet anomaly<br />
4593 Pelizaeus-Merzbacher dise<strong>as</strong>e<br />
4594 Pelizaeus-Merzbacher dise<strong>as</strong>e, late-onset type<br />
4595 Pellagra<br />
4596 Pellagra like syndrome<br />
4597 Pelvic dyspl<strong>as</strong>ia arthrogryposis <strong>of</strong> lower limbs<br />
4598 Pelvic lipomatosis<br />
4599 Pemphigoid gestationis<br />
4600 Pemphigus<br />
4601 Pemphigus <strong>and</strong> fogo selvagem<br />
4602 Pemphigus foliaceus<br />
4603 Pemphigus vulgaris<br />
4604 Pemphigus vulgaris, familial<br />
4605 Pendred syndrome<br />
4606 Penile cancer, adult<br />
4607 Penile cancer, childhood<br />
4608 Penis agenesis<br />
4609 Penoscrotal transposition<br />
4610 Pentalogy <strong>of</strong> Cantrell
4611 Pentosuria<br />
4612 Penttinen-Aula syndrome<br />
4613 PEPCK 1 deficiency<br />
4614 PEPCK 2 deficiency<br />
4615 Peptidic growth factors deficiency<br />
4616 Periarteritis nodosa<br />
4617 Pericardium absent mental retardation short stature<br />
4618 Perilymphatic fistula<br />
4619 Perimyositis<br />
4620 Periodic fever, aphthous stomatitis, pharyngitis <strong>and</strong> adenitis<br />
4621 Periodic fever, familial, autosomal dominant<br />
4622 Peripartum cardiomyopathy<br />
4623 Peripheral T-cell lymphoma<br />
4624 Periventricular leukomalacia<br />
4625 Permanent neonatal diabetes mellitus<br />
4626 Perniosis<br />
4627 Peroxisome biogenesis disorders<br />
4628 Perry syndrome<br />
4629 Persistence <strong>of</strong> mullerian derivatives with lymphangiect<strong>as</strong>ia <strong>and</strong><br />
postaxial polydactyly<br />
4630 Persistent Mullerian duct syndrome<br />
4631 Persistent truncus arteriosus<br />
4632 Peters anomaly<br />
4633 Peters plus syndrome<br />
4634 Petit-Fryns syndrome<br />
4635 Peutz Jeghers syndrome<br />
4636 Peyronie dise<strong>as</strong>e<br />
4637 Pfeiffer Kapferer syndrome<br />
4638 Pfeiffer Mayer syndrome<br />
4639 Pfeiffer Palm Teller syndrome<br />
4640 Pfeiffer Rockelein syndrome<br />
4641 Pfeiffer syndrome<br />
4642 Pfeiffer Tietze Welte syndrome<br />
4643 PHACE syndrome<br />
4644 Phacomatosis pigmentokeratotica<br />
4645 Phacomatosis pigmentov<strong>as</strong>cularis<br />
4646 PHAVER syndrome<br />
4647 Phenobarbital antenatal infection<br />
4648 Phenylketonuria<br />
4649 Pheochromocytoma
4650 Pheochromocytoma, childhood<br />
4651 Pheochromocytoma-islet cell tumor syndrome<br />
4652 Philadelphia-negative chronic myeloid leukemia<br />
4653 Phocomelia ectrodactyly deafness sinus arrhythmia<br />
4654 Phocomelia-ectrodactyly ear malformation deafness <strong>and</strong> sinus<br />
arrhythmia<br />
4655 Phosphoglucomut<strong>as</strong>e deficiency type 2<br />
4656 Phosphoglucomut<strong>as</strong>e deficiency type 3<br />
4657 Phosphoglucomut<strong>as</strong>e deficiency type 4<br />
4658 Phosphoglycerate kin<strong>as</strong>e deficiency<br />
4659 Phosphoglycerate mut<strong>as</strong>e deficiency<br />
4660 Phosphomannoisomer<strong>as</strong>e deficiency<br />
4661 Phosphoribosylpyrophosphate synthet<strong>as</strong>e deficiency<br />
4662 Photosensitive epilepsy<br />
4663 Phyllodes tumor <strong>of</strong> the prostate<br />
4664 PIBIDS syndrome<br />
4665 Picardi-L<strong>as</strong>sueur-Little syndrome<br />
4666 Pick's dise<strong>as</strong>e<br />
4667 Piebaldism<br />
4668 Piepkorn Karp Hickok syndrome<br />
4669 Pierre Marie cerebellar ataxia<br />
4670 Pierre Robin sequence<br />
4671 Pierre Robin sequence with pectus excavatum <strong>and</strong> rib <strong>and</strong><br />
scapular anomalies<br />
4672 Pierre Robin syndrome skeletal dyspl<strong>as</strong>ia polydactyly<br />
4673 Pierson syndrome<br />
4674 Pigmentary retinopathy<br />
4675 Pigment-dis<strong>per</strong>sion syndrome<br />
4676 Pigmented purpuric eruption<br />
4677 Pigmented villonodular synovitis<br />
4678 Pili annulati<br />
4679 Pili multigemini<br />
4680 Pili torti<br />
4681 Pili torti developmental delay neurological abnormalities<br />
4682 Pili torti onychodyspl<strong>as</strong>ia<br />
4683 Pillay syndrome<br />
4684 Pilo dento ungular dyspl<strong>as</strong>ia microcephaly<br />
4685 Pilocytic <strong>as</strong>trocytoma<br />
4686 Pilodental dyspl<strong>as</strong>ia with refractive errors<br />
4687 Pilomatrixoma
4688 Pilotto syndrome<br />
4689 Pineal parenchymal tumors <strong>of</strong> intermediate differentiation<br />
4690 Pineobl<strong>as</strong>toma<br />
4691 Pineobl<strong>as</strong>toma, childhood<br />
4692 Pineocytoma<br />
4693 Pinheiro Freire-Maia Mir<strong>and</strong>a syndrome<br />
4694 Pinta<br />
4695 Piriformis syndrome<br />
4696 Pitt syndrome<br />
4697 Pitt-Hopkins syndrome<br />
4698 Pituitary cancer<br />
4699 Pituitary dwarfism with large sella turcica<br />
4700 Pituitary hormone deficiency, combined 1<br />
4701 Pituitary hormone deficiency, combined 2<br />
4702 Pituitary hormone deficiency, combined 3<br />
4703 Pituitary hormone deficiency, combined 4<br />
4704 Pityri<strong>as</strong>is lichenoides<br />
4705 Pityri<strong>as</strong>is lichenoides chronica<br />
4706 Pityri<strong>as</strong>is lichenoides et varioliformis acuta<br />
4707 Pityri<strong>as</strong>is rotunda<br />
4708 Pityri<strong>as</strong>is rubra pilaris<br />
4709 Piussan Lenaerts Mathieu syndrome<br />
4710 Placenta disorder<br />
4711 Plagiocephaly<br />
4712 Plagiocephaly <strong>and</strong> X-linked mental retardation<br />
4713 Pl<strong>as</strong>ma cell leukemia<br />
4714 Pl<strong>as</strong>ma thrombopl<strong>as</strong>tin antecedent deficiency<br />
4715 Pl<strong>as</strong>malogens synthesis deficiency isolated<br />
4716 Pl<strong>as</strong>minogen activator inhibitor type 1 deficiency<br />
4717 Platelet disorder, familial, with <strong>as</strong>sociated myeloid malignancy<br />
4718 Platelet storage pool deficiency<br />
4719 Platyspondylic lethal skeletal dyspl<strong>as</strong>ia Torrance type<br />
4720 Pleoconial myopathy with salt craving<br />
4721 Pleomorphic malignant fibrous histiocytoma<br />
4722 Pleomorphic xantho<strong>as</strong>trocytoma<br />
4723 Pleuropulmonary bl<strong>as</strong>toma<br />
4724 Plexosarcoma<br />
4725 Plummer Vinson syndrome<br />
4726 Pneumocystic carinii pneumonia<br />
4727 Pneumocystosis
4728 Pneumonia, eosinophilic<br />
4729 Podder-Tolmie syndrome<br />
4730 POEMS syndrome<br />
4731 Poikiloderma with neutropenia<br />
4732 Pointer syndrome<br />
4733 Pol<strong>and</strong> syndrome<br />
4734 Poliomyelitis<br />
4735 Polyarteritis nodosa<br />
4736 Polyarticular onset juvenile idiopathic arthritis<br />
4737 Polycystic bone dise<strong>as</strong>e<br />
4738 Polycystic kidneys, severe infantile with tuberous sclerosis<br />
4739 Polycystic lipomembranous osteodyspl<strong>as</strong>ia with sclerosing<br />
leukoencephalopathy<br />
4740 Polycystic liver dise<strong>as</strong>e<br />
4741 Polycythemia vera<br />
4742 Polydactyly<br />
4743 Polydactyly cleft lip palate psychomotor retardation<br />
4744 Polydactyly myopia syndrome<br />
4745 Polydactyly postaxial<br />
4746 Polydactyly postaxial dental <strong>and</strong> vertebral<br />
4747 Polydactyly preaxial type 1<br />
4748 Polydactyly preaxial type 4<br />
4749 Polydactyly syndrome middle ray duplication<br />
4750 Polyembryoma<br />
4751 Polyglucosan body dise<strong>as</strong>e, adult<br />
4752 Polymicrogyria turricephaly hypogenitalism<br />
4753 Polymorphic reticulosis<br />
4754 Polymorphous low-grade adenocarcinoma<br />
4755 Polymyositis<br />
4756 Polyneuropathy mental retardation acromicria premature<br />
menopause<br />
4757 Polyomavirus allograft nephropathy<br />
4758 Polyosteolysis/hy<strong>per</strong>ostosis syndrome<br />
4759 Polyostotic osteolytic dyspl<strong>as</strong>ia, hereditary expansile<br />
4760 Polysyndactyly cardiac malformation<br />
4761 Polysyndactyly trigonocephaly agenesis <strong>of</strong> corpus callosum<br />
4762 Poncet-Spiegler's cylindroma<br />
4763 Pontine tegmental cap dyspl<strong>as</strong>ia<br />
4764 Pontocerebellar hypopl<strong>as</strong>ia<br />
4765 Pontocerebellar hypopl<strong>as</strong>ia type 1
4766 Pontocerebellar hypopl<strong>as</strong>ia type 2<br />
4767 Pontocerebellar hypopl<strong>as</strong>ia type 3<br />
4768 Pontocerebellar hypopl<strong>as</strong>ia type 4<br />
4769 Pontocerebellar hypopl<strong>as</strong>ia type 5<br />
4770 Pontocerebellar hypopl<strong>as</strong>ia type 6<br />
4771 Pontoneocerebellar Hypopl<strong>as</strong>ia<br />
4772 Popliteal pterygium syndrome<br />
4773 Popliteal pterygium syndrome lethal type<br />
4774 Porencephaly<br />
4775 Porencephaly cerebellar hypopl<strong>as</strong>ia internal malformations<br />
4776 Porokeratosis <strong>of</strong> Mibelli<br />
4777 Porokeratosis plantaris palmaris et disseminata<br />
4778 Porokeratosis, disseminated su<strong>per</strong>ficial actinic 1<br />
4779 Porokeratosis, disseminated su<strong>per</strong>ficial actinic 2<br />
4780 Porphyria<br />
4781 Porphyria cutanea tarda<br />
4782 Portal hy<strong>per</strong>tension due to infrahepatic block<br />
4783 Positive rheumatoid factor polyarthritis<br />
4784 Post Polio syndrome<br />
4785 Postaxial polydactyly mental retardation<br />
4786 Posterior column ataxia<br />
4787 Posterior column ataxia with retinitis pigmentosa<br />
4788 Posterior urethral valves<br />
4789 Posterior uveitis<br />
4790 Posterior valve urethra<br />
4791 Post-infectious myocarditis<br />
4792 Postorg<strong>as</strong>mic illness syndrome<br />
4793 Post-Streptococcal Neurologic Disorders<br />
4794 Post-transplant lymphoproliferative dise<strong>as</strong>e<br />
4795 Post-traumatic epilepsy<br />
4796 Postural orthostatic tachycardia syndrome<br />
4797 Pot<strong>as</strong>sium aggravated myotonia<br />
4798 Potato nose<br />
4799 Potocki-Lupski syndrome<br />
4800 Potocki-Shaffer syndrome<br />
4801 Potter syndrome<br />
4802 Potter syndrome type 1<br />
4803 Potter syndrome type 2<br />
4804 Potter syndrome type 3<br />
4805 Potter syndrome type 4
4806 Powell Buist Stenzel syndrome<br />
4807 PPM-X syndrome<br />
4808 Prader-Willi habitus, osteopenia, <strong>and</strong> camptodactyly<br />
4809 Prader-Willi syndrome<br />
4810 Prata Libéral Gonçalves syndrome<br />
4811 Preaxial deficiency, postaxial polydactyly <strong>and</strong> hypospadi<strong>as</strong><br />
4812 Precocious epileptic encephalopathy<br />
4813 Precocious myoclonic encephalopathy<br />
4814 Precocious puberty<br />
4815 Precocious puberty, gonadotropin-dependent<br />
4816 Preey<strong>as</strong>ombat Varavithya syndrome<br />
4817 Prekallikrein deficiency, congenital<br />
4818 Premature aging Okamoto type<br />
4819 Premature atherosclerosis with photomyoclonic epilepsy,<br />
deafness, diabetes mellitus, nephropathy, an<br />
4820 Premature ovarian failure, familial<br />
4821 Presenile dementia, Kraepelin type<br />
4822 Priapism<br />
4823 Prieto X-linked mental retardation syndrome<br />
4824 Primary agammaglobulinemia<br />
4825 Primary amebic meningoencephalitis<br />
4826 Primary angiitis <strong>of</strong> the central nervous system<br />
4827 Primary b<strong>as</strong>ilar impression<br />
4828 Primary biliary cirrhosis<br />
4829 Primary carnitine deficiency<br />
4830 Primary ciliary dyskinesia<br />
4831 Primary cortisol resistance<br />
4832 Primary effusion lymphoma<br />
4833 Primary familial xanthomatosis with involvement <strong>and</strong><br />
calcification <strong>of</strong> the adrenal galnds<br />
4834 Primary g<strong>as</strong>trointestinal melanoma<br />
4835 Primary hy<strong>per</strong>oxaluria type 1<br />
4836 Primary hy<strong>per</strong>oxaluria type 2<br />
4837 Primary hy<strong>per</strong>oxaluria type 3<br />
4838 Primary lateral sclerosis<br />
4839 Primary malignant lymphoma<br />
4840 Primary malignant melanoma <strong>of</strong> the cervix<br />
4841 Primary malignant melanoma <strong>of</strong> the conjunctiva<br />
4842 Primary open angle glaucoma juvenile onset 1<br />
4843 Primary orthostatic tremor
4844 Primary pigmented nodular adrenocortical dise<strong>as</strong>e<br />
4845 Primary progressive aph<strong>as</strong>ia<br />
4846 Primary rele<strong>as</strong>e disorder <strong>of</strong> platelets<br />
4847 Primary sclerosing cholangitis<br />
4848 Primary tubular proximal acidosis<br />
4849 Primrose syndrome<br />
4850 Prinzmetal's variant angina<br />
4851 Procarcinoma<br />
4852 Proconvertin deficiency, congenital<br />
4853 Progeria<br />
4854 Progeria variant syndrome Ruvalcaba type<br />
4855 Progeroid short stature with pigmented nevi<br />
4856 Progeroid syndrome Petty type<br />
4857 Progeroid syndrome, Penttinen type<br />
4858 Prognathism m<strong>and</strong>ibular<br />
4859 Progressive bifocal chorioretinal atrophy<br />
4860 Progressive black carbon hy<strong>per</strong>pigmentation <strong>of</strong> infancy<br />
4861 Progressive bulbar palsy<br />
4862 Progressive familial heart block type 1A<br />
4863 Progressive familial heart block type 1B<br />
4864 Progressive familial heart block type 2<br />
4865 Progressive hemifacial atrophy<br />
4866 Progressive kinking <strong>of</strong> the hair, acquired<br />
4867 Progressive multifocal leukoencephalopathy<br />
4868 Progressive myoclonic epilepsy<br />
4869 Progressive non-fluent aph<strong>as</strong>ia<br />
4870 Progressive osseous heteropl<strong>as</strong>ia<br />
4871 Progressive pseudorheumatoid arthropathy <strong>of</strong> childhood<br />
4872 Progressive supranuclear palsy<br />
4873 Progressive supranuclear palsy atypical<br />
4874 Progressive transformation <strong>of</strong> germinal centers<br />
4875 Prolactinoma, familial<br />
4876 Prolerating trichilemmal cyst<br />
4877 Prolid<strong>as</strong>e deficiency<br />
4878 Proopiomelanocortin deficiency<br />
4879 Pro<strong>per</strong>din deficiency<br />
4880 Pro<strong>per</strong>din deficiency, X-linked<br />
4881 Propionic acidemia<br />
4882 Prosencephaly cerebellar dysgenesis<br />
4883 Prosopagnosia, hereditary
4884 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE<br />
DEFICIENCY<br />
4885 Prostatic malacoplakia <strong>as</strong>sociated with prostatic abscess<br />
4886 Prostatic stromal proliferation <strong>of</strong> uncertain malignant potential<br />
4887 Protein R deficiency<br />
4888 Protein S deficiency<br />
4889 Proteus like syndrome mental retardation eye defect<br />
4890 Proteus syndrome<br />
4891 Prothrombin thrombophilia<br />
4892 Protoporphyria<br />
4893 Proud Levine Carpenter syndrome<br />
4894 Proximal chromosome 18q deletion syndrome<br />
4895 Proximal spinal muscular atrophy<br />
4896 Prune belly syndrome<br />
4897 Prurigo nodularis<br />
4898 Pruritic urticarial papules plaques <strong>of</strong> pregnancy<br />
4899 Pseudo Pelger-Huet anomaly<br />
4900 Pseudoachondropl<strong>as</strong>ia<br />
4901 Pseudoachondropl<strong>as</strong>tic dyspl<strong>as</strong>ia 2<br />
4902 Pseudoainhum<br />
4903 Pseudoaminopterin syndrome<br />
4904 Pseudoarylsulfat<strong>as</strong>e A deficiency<br />
4905 Pseudocholinester<strong>as</strong>e deficiency<br />
4906 Pseudodi<strong>as</strong>trophic dyspl<strong>as</strong>ia<br />
4907 Pseudohermaphrodism anorectal anomalies<br />
4908 Pseudohy<strong>per</strong>kalemia Cardiff<br />
4909 Pseudohypoaldosteronism type 2<br />
4910 Pseudohypoparathyroidism<br />
4911 Pseudohypoparathyroidism type 1A<br />
4912 Pseudohypoparathyroidism type 1B<br />
4913 Pseudohypoparathyroidism type 1C<br />
4914 Pseudohypoparathyroidism type 2<br />
4915 Pseudoinflammatory fundus dystrophy<br />
4916 Pseudomarfanism<br />
4917 Pseudomon<strong>as</strong> stutzeri infections<br />
4918 Pseudomongolism<br />
4919 Pseudomyotonia<br />
4920 Pseudomyxoma <strong>per</strong>itonei<br />
4921 Pseudoneonatal adrenoleukodystrophy<br />
4922 Pseudopapilledema blepharophimosis h<strong>and</strong> anomalies
4923 Pseudopelade <strong>of</strong> Brocq<br />
4924 Pseudopolycythaemia<br />
4925 Pseudoprogeria syndrome<br />
4926 Pseudopseudohypoparathyroidism<br />
4927 Pseudotrisomy 13 syndrome<br />
4928 Pseudotumor cerebri<br />
4929 Pseudo-Turner syndrome<br />
4930 Pseudo-Von Willebr<strong>and</strong> dise<strong>as</strong>e<br />
4931 Pseudoxanthoma el<strong>as</strong>ticum<br />
4932 Pseudoxanthoma el<strong>as</strong>ticum, dominant form<br />
4933 Pseudoxanthoma el<strong>as</strong>ticum, forme fruste<br />
4934 Pseudoxanthoma el<strong>as</strong>ticum, recessive form<br />
4935 Psittacosis<br />
4936 Psoriatic juvenile idiopathic arthritis<br />
4937 Pterigium Colli<br />
4938 Pterygia, mental retardation <strong>and</strong> distinctive crani<strong>of</strong>acial features<br />
4939 Pterygium colli mental retardation digital anomalies<br />
4940 Pterygium <strong>of</strong> the conjunctiva <strong>and</strong> cornea<br />
4941 Ptosis coloboma mental retardation<br />
4942 Ptosis strabismus di<strong>as</strong>t<strong>as</strong>is<br />
4943 Ptosis strabismus ectopic pupils<br />
4944 Pudendal Neuralgia<br />
4945 Pulmonary alveolar proteinosis acquired<br />
4946 Pulmonary arterio-veinous fistula<br />
4947 Pulmonary arteriovenous malformation<br />
4948 Pulmonary artery agenesis<br />
4949 Pulmonary artery coming from the aorta<br />
4950 Pulmonary artery familial dilatation<br />
4951 Pulmonary artery, isolated unilateral absence <strong>of</strong> (Isolated UAPA)<br />
4952 Pulmonary artery, unilateral absence <strong>of</strong> (UAPA)<br />
4953 Pulmonary atresia with intact ventricular septum<br />
4954 Pulmonary atresia with ventricular septal defect<br />
4955 Pulmonary branches stenosis<br />
4956 Pulmonary edema <strong>of</strong> mountaineers<br />
4957 Pulmonary hyalinizing granuloma<br />
4958 Pulmonary hypopl<strong>as</strong>ia familial primary<br />
4959 Pulmonary sequestration<br />
4960 Pulmonary supravalvular stenosis<br />
4961 Pulmonary surfactant protein B, deficiency <strong>of</strong><br />
4962 Pulmonary valve stenosis
4963 Pulmonary valves agenesis<br />
4964 Pulmonary vein stenosis<br />
4965 Pulmonary venoocclusive dise<strong>as</strong>e<br />
4966 Pulmonary venous return anomaly<br />
4967 Pulmonic stenosis<br />
4968 Punctate acrokeratoderma freckle like pigmentation<br />
4969 Punctate inner choroidopathy<br />
4970 Punctate porokeratosis<br />
4971 Pure autonomic failure<br />
4972 Pure red cell apl<strong>as</strong>ia<br />
4973 Purine nucleoside phosphoryl<strong>as</strong>e deficiency<br />
4974 Pycnodysostosis<br />
4975 Pyknoachondrogenesis<br />
4976 Pyle dise<strong>as</strong>e<br />
4977 Pyoderma gangrenosum<br />
4978 Pyogenic arthritis, pyoderma gangrenosum <strong>and</strong> acne<br />
4979 Pyomyositis<br />
4980 Pyridoxal 5'-phosphate-dependent epilepsy<br />
4981 Pyridoxine deficiency<br />
4982 Pyridoxine-dependent epilepsy<br />
4983 Pyropoikilocytosis hereditary<br />
4984 Pyruvate carboxyl<strong>as</strong>e deficiency<br />
4985 Pyruvate decarboxyl<strong>as</strong>e deficiency<br />
4986 Pyruvate dehydrogen<strong>as</strong>e deficiency<br />
4987 Pyruvate dehydrogen<strong>as</strong>e phosphat<strong>as</strong>e deficiency<br />
4988 Pyruvate kin<strong>as</strong>e deficiency<br />
4989 Pyruvate kin<strong>as</strong>e deficiency, liver type<br />
4990 Pyruvate kin<strong>as</strong>e deficiency, muscle type<br />
4991 Q fever<br />
4992 Qazi Markouizos syndrome<br />
4993 Quebec platelet disorder<br />
4994 Quinquaud's decalvans folliculitis<br />
4995 Rabies<br />
4996 Rabson-Mendenhall syndrome<br />
4997 Radial defect Robin sequence<br />
4998 Radial hypopl<strong>as</strong>ia, triphalangeal thumbs <strong>and</strong> hypospadi<strong>as</strong><br />
4999 Radial ray agenesis<br />
5000 Radial ray hypopl<strong>as</strong>ia choanal atresia<br />
5001 Radiation induced angiosarcoma <strong>of</strong> the bre<strong>as</strong>t<br />
5002 Radiation induced brachial plexopathy
5003 Radiation induced cancer<br />
5004 Radiation induced meningioma<br />
5005 Radio renal syndrome<br />
5006 Radio-digito-facial dyspl<strong>as</strong>ia<br />
5007 Radioulnar synostosis retinal pigment abnormalities<br />
5008 Radio-ulnar synostosis type 1<br />
5009 Radio-ulnar synostosis type 2<br />
5010 Radioulnar synostosis with microcephaly, short stature, scoliosis,<br />
<strong>and</strong> mental retardation<br />
5011 Radius absent anogenital anomalies<br />
5012 Raine syndrome<br />
5013 Ramer Ladda syndrome<br />
5014 Ramon Syndrome<br />
5015 Ramos Arroyo Clark syndrome<br />
5016 Rapadilino syndrome<br />
5017 Rapp-Hodgkin syndrome<br />
5018 R<strong>as</strong>mussen encephalitis<br />
5019 R<strong>as</strong>mussen Johnsen Thomsen syndrome<br />
5020 Rat bite fever<br />
5021 Reactive angioendotheliomatosis<br />
5022 Reactive arthritis<br />
5023 Reardon Wilson Cavanagh syndrome<br />
5024 Recessive developmental delay, small stature, microcephaly <strong>and</strong><br />
brain calcifications<br />
5025 Recombinant chromosome 8 syndrome<br />
5026 Rectal cancer, childhood<br />
5027 Rectal neopl<strong>as</strong>m<br />
5028 Rectosigmoid neopl<strong>as</strong>m<br />
5029 Recurrent <strong>per</strong>ipheral facial palsy<br />
5030 Recurrent respiratory papillomatosis<br />
5031 Red cell phospholipid defect with hemolysis<br />
5032 Red skin pigment anomaly <strong>of</strong> New Guinea<br />
5033 Reductional transverse limb defects<br />
5034 Reed syndrome<br />
5035 Reese retinal dyspl<strong>as</strong>ia<br />
5036 Refsum dise<strong>as</strong>e<br />
5037 Refsum dise<strong>as</strong>e with incre<strong>as</strong>ed pipecolic acidemia<br />
5038 Refsum dise<strong>as</strong>e, infantile form<br />
5039 Reginato Shiapach<strong>as</strong>se syndrome<br />
5040 Relapsing polychondritis
5041 Renal adyspl<strong>as</strong>ia dominant type<br />
5042 Renal agenesis meningomyelocele mullerian defect<br />
5043 Renal caliceal diverticuli deafness<br />
5044 Renal cancer<br />
5045 Renal carcinoma, familial<br />
5046 Renal cell carcinoma 4<br />
5047 Renal coloboma syndrome<br />
5048 Renal dyspl<strong>as</strong>ia diffuse autosomal recessive<br />
5049 Renal dyspl<strong>as</strong>ia diffuse cystic<br />
5050 Renal dyspl<strong>as</strong>ia megalocystis sirenomelia<br />
5051 Renal dyspl<strong>as</strong>ia, retinal pigmentary dystrophy, cerebellar ataxia<br />
<strong>and</strong> skeletal dyspl<strong>as</strong>ia<br />
5052 Renal dyspl<strong>as</strong>ia-limb defects syndrome<br />
5053 Renal genital middle ear anomalies<br />
5054 Renal glycosuria<br />
5055 Renal hamartom<strong>as</strong> nephrobl<strong>as</strong>tomatosis <strong>and</strong> fetal gigantism<br />
5056 Renal hypouricemia<br />
5057 Renal oncocytoma<br />
5058 Renal pelvis <strong>and</strong> ureter, transitional cell cancer<br />
5059 Renal rickets<br />
5060 Renal tubular acidosis<br />
5061 Renal tubular acidosis progressive nerve deafness<br />
5062 Renal tubular acidosis, distal<br />
5063 Renal tubular acidosis, distal, autosomal dominant<br />
5064 Renal tubular acidosis, distal, autosomal recessive<br />
5065 Renal tubular acidosis, distal, type 3<br />
5066 Renal tubular acidosis, distal, type 4<br />
5067 Renal tubular dysgenesis<br />
5068 Renal tubulopathy, diabetes mellitus, <strong>and</strong> cerebellar ataxia due to<br />
duplication <strong>of</strong> mitochondrial DNA<br />
5069 Renier Gabreels J<strong>as</strong><strong>per</strong> syndrome<br />
5070 Renoanogenital syndrome<br />
5071 Renoprival hy<strong>per</strong>tension<br />
5072 Renpenning syndrome 1<br />
5073 Resistance to LH (luteinizing hormone)<br />
5074 Respiratory distress syndrome, infant<br />
5075 Restless legs syndrome, susceptibility to, 1<br />
5076 Restless legs syndrome, susceptibility to, 2<br />
5077 Restless legs syndrome, susceptibility to, 3<br />
5078 Restless legs syndrome, susceptibility to, 4
5079 Restless legs syndrome, susceptibility to, 5<br />
5080 Restless legs syndrome, susceptibility to, 6<br />
5081 Reticular dysgenesis<br />
5082 Reticuloendotheliosis<br />
5083 Retinal cone dystrophy 1<br />
5084 Retinal cone dystrophy 2<br />
5085 Retinal cone dystrophy 3A<br />
5086 Retinal cone dystrophy 3B<br />
5087 Retinal cone dystrophy 4<br />
5088 Retinal degeneration with nanophthalmos, cystic macular<br />
degeneration, <strong>and</strong> angle closure glaucoma<br />
5089 Retinal dyspl<strong>as</strong>ia X-linked<br />
5090 Retinal telangiect<strong>as</strong>ia hypogammaglobulinemia<br />
5091 Retinis pigmentosa deafness hypogenitalism<br />
5092 Retinitis pigmentosa<br />
5093 Retinitis pigmentosa 1<br />
5094 Retinitis Pigmentosa 11<br />
5095 Retinitis pigmentosa 12<br />
5096 Retinitis Pigmentosa 13<br />
5097 Retinitis Pigmentosa 14<br />
5098 Retinitis Pigmentosa 15<br />
5099 Retinitis Pigmentosa 17<br />
5100 Retinitis Pigmentosa 18<br />
5101 Retinitis Pigmentosa 19<br />
5102 Retinitis pigmentosa 2, x linked<br />
5103 Retinitis Pigmentosa 20<br />
5104 Retinitis Pigmentosa 22<br />
5105 Retinitis Pigmentosa 23<br />
5106 Retinitis Pigmentosa 24<br />
5107 Retinitis Pigmentosa 25<br />
5108 Retinitis Pigmentosa 26<br />
5109 Retinitis Pigmentosa 28<br />
5110 Retinitis pigmentosa 29<br />
5111 Retinitis pigmentosa 3<br />
5112 Retinitis Pigmentosa 30<br />
5113 Retinitis Pigmentosa 31<br />
5114 Retinitis Pigmentosa 32<br />
5115 Retinitis Pigmentosa 33<br />
5116 Retinitis Pigmentosa 34<br />
5117 Retinitis Pigmentosa 35
5118 Retinitis Pigmentosa 36<br />
5119 Retinitis Pigmentosa 4<br />
5120 Retinitis Pigmentosa 41<br />
5121 Retinitis Pigmentosa 6<br />
5122 Retinitis Pigmentosa 7<br />
5123 Retinitis Pigmentosa 9<br />
5124 Retinitis pigmentosa, deafness, mental retardation, <strong>and</strong><br />
hypogonadism<br />
5125 Retinitis pigmentosa-deafness syndrome<br />
5126 Retinobl<strong>as</strong>toma<br />
5127 Retinochoroidal coloboma<br />
5128 Retinohepatoendocrinologic syndrome<br />
5129 Retinopathy anemia CNS anomalies<br />
5130 Retinopathy apl<strong>as</strong>tic anemia neurological abnormalities<br />
5131 Retinopathy <strong>of</strong> prematurity<br />
5132 Retinopathy pigmentary mental retardation<br />
5133 Retinopathy, arteriosclerotic<br />
5134 Retinoschisis autosomal dominant<br />
5135 Retinoschisis <strong>of</strong> Fovea<br />
5136 Retro<strong>per</strong>itoneal fibrosis<br />
5137 Retro<strong>per</strong>itoneal liposarcoma<br />
5138 Rett syndrome<br />
5139 Revesz syndrome<br />
5140 Reye syndrome<br />
5141 Reynolds Neri Hermann syndrome<br />
5142 Reynolds syndrome<br />
5143 Rhabditida Infections<br />
5144 Rhabdoid tumor<br />
5145 Rhabdomyomatous mesenchymal hamartoma<br />
5146 Rhabdomyosarcoma alveolar<br />
5147 Rhabdomyosarcoma embryonal<br />
5148 Rheumatic Fever<br />
5149 Rheumatoid nodulosis<br />
5150 Rheumatoid v<strong>as</strong>culitis<br />
5151 Rhizomelic chondrodyspl<strong>as</strong>ia punctata type 1<br />
5152 Rhizomelic chondrodyspl<strong>as</strong>ia punctata type 2<br />
5153 Rhizomelic chondrodyspl<strong>as</strong>ia punctata, type 3<br />
5154 Rhizomelic dyspl<strong>as</strong>ia Patterson Lowry type<br />
5155 Rhizomelic dyspl<strong>as</strong>ia, scoliosis, <strong>and</strong> retinitis pigmentosa<br />
5156 Rhizomelic pseudopolyarthritis
5157 Rhizomelic syndrome<br />
5158 RHYNS syndrome<br />
5159 Ribbing dise<strong>as</strong>e<br />
5160 Richards-Rundle syndrome<br />
5161 Richieri Costa Da Silva syndrome<br />
5162 Richieri Costa Guion Almeida syndrome<br />
5163 Richieri Costa Orquiz<strong>as</strong> syndrome<br />
5164 Richieri Costa Pereira syndrome<br />
5165 Richieri-Costa Colletto Otto syndrome<br />
5166 Richieri-Costa Guion-Almeida Cohen syndrome<br />
5167 Richter syndrome<br />
5168 Rickets<br />
5169 Right atrium familial dilatation<br />
5170 Right ventricle hypopl<strong>as</strong>ia<br />
5171 Rigid spine syndrome<br />
5172 Ring chromosome 1<br />
5173 Ring chromosome 10<br />
5174 Ring chromosome 11<br />
5175 Ring chromosome 12<br />
5176 Ring chromosome 13<br />
5177 Ring chromosome 14<br />
5178 Ring chromosome 15<br />
5179 Ring chromosome 16<br />
5180 Ring chromosome 17<br />
5181 Ring chromosome 18<br />
5182 Ring chromosome 19<br />
5183 Ring chromosome 2<br />
5184 Ring chromosome 20<br />
5185 Ring chromosome 21<br />
5186 Ring chromosome 22<br />
5187 Ring chromosome 3<br />
5188 Ring chromosome 4<br />
5189 Ring chromosome 5<br />
5190 Ring chromosome 6<br />
5191 Ring chromosome 7<br />
5192 Ring chromosome 8<br />
5193 Ring chromosome 9<br />
5194 Ring dermoid <strong>of</strong> cornea<br />
5195 Ringed hair dise<strong>as</strong>e<br />
5196 Rippling muscle dise<strong>as</strong>e
5197 Rippling muscle dise<strong>as</strong>e, 1<br />
5198 Roberts syndrome<br />
5199 Robin sequence <strong>and</strong> oligodactyly<br />
5200 Robinow Sorauf syndrome<br />
5201 Robinow syndrome<br />
5202 Robinson Miller Bensimon syndrome<br />
5203 Roch-Leri mesosomatous lipomatosis<br />
5204 Rocky mountain spotted fever<br />
5205 Rod myopathy<br />
5206 Rodini Richieri Costa syndrome<br />
5207 Rodrigues blindness<br />
5208 ROHHAD<br />
5209 Roifman syndrome<br />
5210 Rokitansky sequence<br />
5211 Rokitansky-Asch<strong>of</strong>f sinuses <strong>of</strong> the gallbladder<br />
5212 Rombo syndrome<br />
5213 Rommen Mueller Sybert syndrome<br />
5214 Rosai-Dorfman dise<strong>as</strong>e<br />
5215 Rothmund Thomson syndrome<br />
5216 Rotor syndrome<br />
5217 Roussy Levy syndrome<br />
5218 Rowley-Rosenberg syndrome<br />
5219 Roy Maroteaux Kremp syndrome<br />
5220 Rozin Hertz Goodman syndrome<br />
5221 Rubella<br />
5222 Rubinstein Taybi like syndrome<br />
5223 Rubinstein-Taybi syndrome<br />
5224 Rud Syndrome<br />
5225 Rudd Klimek syndrome<br />
5226 Rufous oculocutaneous albinism<br />
5227 Rumination disorder<br />
5228 Russell-Silver syndrome<br />
5229 Rutherfurd syndrome<br />
5230 Ruvalcaba Churesigaew Myhre syndrome<br />
5231 Ruvalcaba syndrome<br />
5232 Ruzicka Goerz Anton syndrome<br />
5233 Saal Bul<strong>as</strong> syndrome<br />
5234 Sabin<strong>as</strong> brittle hair syndrome<br />
5235 Saccharopinuria<br />
5236 Sackey Sakati Aur syndrome
5237 Sacral defect with anterior meningocele<br />
5238 Sacral hemangiom<strong>as</strong> multiple congenital abnormalities<br />
5239 Sacral meningocele conotruncal heart defects<br />
5240 Sacral plexopathy<br />
5241 Sacrococcygeal Teratoma<br />
5242 Saethre-Chotzen syndrome<br />
5243 Saito Kuba Tsuruta syndrome<br />
5244 Sakati syndrome<br />
5245 Sakoda complex<br />
5246 Salcedo syndrome<br />
5247 Salivary gl<strong>and</strong> cancer, adult<br />
5248 Salivary gl<strong>and</strong> cancer, childhood<br />
5249 Salla dise<strong>as</strong>e<br />
5250 Sallis Beighton syndrome<br />
5251 Sammartino Decreccio syndrome<br />
5252 Samson Gardner syndrome<br />
5253 Samson Viljoen syndrome<br />
5254 S<strong>and</strong>erson Fr<strong>as</strong>er syndrome<br />
5255 S<strong>and</strong>haus Ben-Ami syndrome<br />
5256 S<strong>and</strong>h<strong>of</strong>f dise<strong>as</strong>e<br />
5257 S<strong>and</strong>ifer syndrome<br />
5258 Santos Mateus Leal syndrome<br />
5259 SAPHO syndrome<br />
5260 Sarcoidosis<br />
5261 Sarcoma botryoides<br />
5262 Sarcosinemia<br />
5263 SARS<br />
5264 Satoyoshi syndrome<br />
5265 Saul Wilkes Stevenson syndrome<br />
5266 Say Barber Miller syndrome<br />
5267 Say Carpenter syndrome<br />
5268 Say Meyer syndrome<br />
5269 Say syndrome<br />
5270 Say-Field-Coldwell syndrome<br />
5271 Scalp defects postaxial polydactyly<br />
5272 Scalp ear nipple syndrome<br />
5273 Scaphotrapeziotrapezoid arthrodesis<br />
5274 Scapulo<strong>per</strong>oneal syndrome, neurogenic, Kaeser type<br />
5275 SCARF syndrome<br />
5276 Schaap Taylor Baraitser syndrome
5277 Schaefer Stein Oshman syndrome<br />
5278 Scheuermann dise<strong>as</strong>e<br />
5279 Schimke immunoosseous dyspl<strong>as</strong>ia<br />
5280 Schimke X-linked mental retardation syndrome<br />
5281 Schindler dise<strong>as</strong>e, type 1<br />
5282 Schinzel Giedion syndrome<br />
5283 Schisis <strong>as</strong>sociation<br />
5284 Schistosomi<strong>as</strong>is<br />
5285 Schizencephaly<br />
5286 Schizophrenia mental retardation deafness retinitis<br />
5287 Schizotaxia<br />
5288 Schlegelberger Grote syndrome<br />
5289 Schmitt Gillenwater Kelly syndrome<br />
5290 Schneckenbecken dyspl<strong>as</strong>ia<br />
5291 Scholte syndrome<br />
5292 Schr<strong>and</strong>er-Stumpel Theunissen Hulsmans syndrome<br />
5293 Schroer Hammer Mauldin syndrome<br />
5294 Schwannoma<br />
5295 Schwannomatosis<br />
5296 Schwartz Cohen-Addad Lambert syndrome<br />
5297 Schwartz Jampel syndrome type 1<br />
5298 Scleredema<br />
5299 Scleroatonic muscular dystrophy<br />
5300 Sclerocornea, Syndactyly, ambiguous genitalia<br />
5301 Scleromyxedema<br />
5302 Sclerosing bone dyspl<strong>as</strong>ia mental retardation<br />
5303 Sclerosing mesenteritis<br />
5304 Sclerosteosis<br />
5305 Sclerotylosis<br />
5306 Scoliosis with unilateral unsegmented bar<br />
5307 SCOT deficiency<br />
5308 Scott Bryant Graham syndrome<br />
5309 Scott syndrome<br />
5310 Scurvy<br />
5311 Sea-Blue histiocytosis<br />
5312 Seaver C<strong>as</strong>sidy syndrome<br />
5313 Sebaceous gl<strong>and</strong> hy<strong>per</strong>pl<strong>as</strong>ia, familial presenile<br />
5314 Sebocystomatosis<br />
5315 Secernentea Infections<br />
5316 Seckel like syndrome Majoor-Krakauer type
5317 Seckel syndrome<br />
5318 Secretory bre<strong>as</strong>t carcinoma<br />
5319 Segawa syndrome, autosomal recessive<br />
5320 Segmentation syndrome 1<br />
5321 Seizures benign familial neonatal recessive form<br />
5322 Seizures mental retardation hair dyspl<strong>as</strong>ia<br />
5323 Selective IgA deficiency<br />
5324 Selenium poisoning<br />
5325 Selig Benacerraf Greene syndrome<br />
5326 Semantic dementia<br />
5327 Seminoma<br />
5328 Semmekrot Haraldsson Weemaes syndrome<br />
5329 Sener syndrome<br />
5330 Senior Loken Syndrome<br />
5331 Sennetsu Fever<br />
5332 Sensory ataxic neuropathy, dysarthria, <strong>and</strong> ophthalmoparesis<br />
5333 Sensory neuropathy type 1<br />
5334 Senter syndrome<br />
5335 Seow Najjar syndrome<br />
5336 Sepiapterin reduct<strong>as</strong>e deficiency<br />
5337 Septo-optic dyspl<strong>as</strong>ia<br />
5338 Sequeiros Sack syndrome<br />
5339 Seres-Santamaria Arimany Muniz syndrome<br />
5340 Serkal syndrome<br />
5341 Serpentine fibula polycystic kidney syndrome<br />
5342 Serpiginous choroiditis<br />
5343 Sertoli cell-only syndrome<br />
5344 Sertoli-leydig cell tumors<br />
5345 SeSAME syndrome<br />
5346 Severe achondropl<strong>as</strong>ia with developmental delay <strong>and</strong> acanthosis<br />
nigricans<br />
5347 Severe combined immunodeficiency<br />
5348 Severe combined immunodeficiency with sensitivity to ionizing<br />
radiation<br />
5349 Severe combined immunodeficiency, atypical<br />
5350 Severe congenital neutropenia autosomal dominant<br />
5351 Severe congenital neutropenia autosomal recessive 3<br />
5352 Severe congenital neutropenia X-linked<br />
5353 Severe generalized recessive dystrophic epidermolysis bullosa
5354 Severe immunodeficiency, autosomal recessive, T-cell negative,<br />
B-cell negative, NK cell-positive<br />
5355 Severe infantile axonal neuropathy<br />
5356 Severe mental retardation <strong>and</strong> absent nails <strong>of</strong> hallux <strong>and</strong> pollex<br />
5357 Sezary syndrome<br />
5358 Shapiro syndrome<br />
5359 Sharp syndrome<br />
5360 Shaver's dise<strong>as</strong>e<br />
5361 Sheehan syndrome<br />
5362 Shigellosis<br />
5363 Shith Filkins syndrome<br />
5364 Short bowel syndrome<br />
5365 Short broad great toe macrocranium<br />
5366 Short chain acyl CoA dehydrogen<strong>as</strong>e deficiency<br />
5367 Short limb dwarf edema iris coloboma<br />
5368 Short limb dwarf lethal Colavita Kozlowski type<br />
5369 Short limbs abnormal face congenital heart dise<strong>as</strong>e<br />
5370 Short limbs subluxed knees cleft palate<br />
5371 Short rib-polydactyly syndrome type 3<br />
5372 Short rib-polydactyly syndrome type 1<br />
5373 Short rib-polydactyly syndrome type 2<br />
5374 Short rib-polydactyly syndrome type 4<br />
5375 Short ribs craniosynostosis polysyndactyly<br />
5376 Short stature abnormal skin pigmentation mental retardation<br />
5377 Short stature contractures hypotonia<br />
5378 Short stature cranial hy<strong>per</strong>ostosis hepatomegaly<br />
5379 Short stature deafness neutrophil dysfunction<br />
5380 Short stature dysmorphic face pelvic scapula dyspl<strong>as</strong>ia<br />
5381 Short stature mental retardation eye anomalies<br />
5382 Short stature microcephaly seizures deafness<br />
5383 Short stature monodactylous ectrodactyly cleft palate<br />
5384 Short stature prognathism short femoral necks<br />
5385 Short stature Robin sequence cleft m<strong>and</strong>ible h<strong>and</strong> anomalies<br />
clubfoot<br />
5386 Short stature syndrome, Brussels type<br />
5387 Short stature talipes natal teeth<br />
5388 Short stature valvular heart dise<strong>as</strong>e<br />
5389 Short stature with optic atrophy <strong>and</strong> Pelger-Huët anomaly<br />
syndrome<br />
5390 Short stature wormian bones dextrocardia
5391 Short stature, cranial hy<strong>per</strong>ostosis, hepatomegaly <strong>and</strong> diabetes<br />
5392 SHORT syndrome<br />
5393 Shoulder <strong>and</strong> thorax deformity congenital heart dise<strong>as</strong>e<br />
5394 Shoulder girdle defect mental retardation familial<br />
5395 Shprintzen omphalocele syndrome<br />
5396 Shprintzen omphalocele syndrome<br />
5397 Shprintzen-Goldberg craniosynostosis syndrome<br />
5398 Shwachman-Diamond syndrome<br />
5399 Shwartzman phenomenon<br />
5400 Sialadenitis<br />
5401 Sialidosis type I<br />
5402 Sialidosis, type II<br />
5403 Sialuria, French type<br />
5404 Sickle cell anemia<br />
5405 Sickle delta beta thal<strong>as</strong>semia<br />
5406 Siderius X-linked mental retardation syndrome<br />
5407 Siderobl<strong>as</strong>tic anemia acquired<br />
5408 Siderobl<strong>as</strong>tic anemia <strong>and</strong> mitochondrial myopathy<br />
5409 Siderobl<strong>as</strong>tic anemia pyridoxine-refractory autosomal recessive<br />
5410 Siderobl<strong>as</strong>tic anemia pyridoxine-responsive autosomal recessive<br />
5411 Siderobl<strong>as</strong>tic anemia X-linked<br />
5412 Siderosis<br />
5413 Siegler Brewer Carey syndrome<br />
5414 Silengo Lerone Pelizza syndrome<br />
5415 Silicosiderosis<br />
5416 Silicosis<br />
5417 Sillence syndrome<br />
5418 Silvery hair syndrome<br />
5419 Simian B virus infection<br />
5420 Simosa cranio facial syndrome<br />
5421 Simpson-Golabi-Behmel syndrome<br />
5422 Sine scleroderma<br />
5423 Singh Chhaparwal Dh<strong>and</strong>a syndrome<br />
5424 Single up<strong>per</strong> central incisor<br />
5425 Single ventricular heart<br />
5426 Singleton Merten syndrome<br />
5427 Sinon<strong>as</strong>al undifferentiated carcinoma<br />
5428 Sinus cancer<br />
5429 Sinus node dise<strong>as</strong>e <strong>and</strong> myopia<br />
5430 Sirenomelia
5431 Sitosterolemia<br />
5432 Situs inversus<br />
5433 Situs inversus totalis with cystic dyspl<strong>as</strong>ia <strong>of</strong> kidneys <strong>and</strong><br />
pancre<strong>as</strong><br />
5434 Sixth nerve palsy<br />
5435 Sjogren-Larsson syndrome<br />
5436 Sjogren-Larsson-like syndrome<br />
5437 Sjogren's syndrome, juvenile, secondary to autoimmune dise<strong>as</strong>e<br />
5438 Skeletal dyspl<strong>as</strong>ia or<strong>of</strong>acial anomalies<br />
5439 Skeletal dyspl<strong>as</strong>ia, San Diego type<br />
5440 Skeleto cardiac syndrome with thrombocytopenia<br />
5441 Skin cancer, non melanoma, childhood<br />
5442 Skin fragility woolly hair syndrome<br />
5443 Slavotinek Pike Mills Hurst syndrome<br />
5444 Slow-channel congenital my<strong>as</strong>thenic syndrome<br />
5445 Slti Salem syndrome<br />
5446 Small cell lung cancer, childhood<br />
5447 Small cell lung cancer, adult<br />
5448 Small intestine cancer<br />
5449 Small intestine cancer, childhood<br />
5450 Small non-cleaved cell lymphoma<br />
5451 Small patella syndrome<br />
5452 Smallpox<br />
5453 Smith McCort dyspl<strong>as</strong>ia<br />
5454 Smith-Lemli-Opitz syndrome type 1<br />
5455 Smith-Lemli-Opitz syndrome type 2<br />
5456 Smith-Magenis syndrome<br />
5457 Sneddon syndrome<br />
5458 Snowflake vitreoretinal degeneration<br />
5459 Snyder-Robinson syndrome<br />
5460 S<strong>of</strong>t tissue sarcoma<br />
5461 S<strong>of</strong>t tissue sarcoma childhood<br />
5462 Sohval S<strong>of</strong>fer syndrome<br />
5463 Somatostatinoma<br />
5464 Sonoda syndrome<br />
5465 Sosby syndrome<br />
5466 Sotos syndrome<br />
5467 Sparse hair ptosis mental retardation<br />
5468 Sp<strong>as</strong>modic dysphonia<br />
5469 Sp<strong>as</strong>tic angina with healthy coronary artery
5470 Sp<strong>as</strong>tic ataxia Charlevoix-Saguenay type<br />
5471 Sp<strong>as</strong>tic diplegia infantile type<br />
5472 Sp<strong>as</strong>tic paraparesis<br />
5473 Sp<strong>as</strong>tic paraplegia 1<br />
5474 Sp<strong>as</strong>tic paraplegia 10<br />
5475 Sp<strong>as</strong>tic paraplegia 11<br />
5476 Sp<strong>as</strong>tic paraplegia 12<br />
5477 Sp<strong>as</strong>tic paraplegia 13<br />
5478 Sp<strong>as</strong>tic paraplegia 14<br />
5479 Sp<strong>as</strong>tic paraplegia 15<br />
5480 Sp<strong>as</strong>tic paraplegia 16<br />
5481 Sp<strong>as</strong>tic paraplegia 17<br />
5482 Sp<strong>as</strong>tic paraplegia 18<br />
5483 Sp<strong>as</strong>tic paraplegia 19<br />
5484 Sp<strong>as</strong>tic paraplegia 2<br />
5485 Sp<strong>as</strong>tic paraplegia 20<br />
5486 Sp<strong>as</strong>tic paraplegia 23<br />
5487 Sp<strong>as</strong>tic paraplegia 24<br />
5488 Sp<strong>as</strong>tic paraplegia 25<br />
5489 Sp<strong>as</strong>tic paraplegia 26<br />
5490 Sp<strong>as</strong>tic paraplegia 29<br />
5491 Sp<strong>as</strong>tic paraplegia 3<br />
5492 Sp<strong>as</strong>tic paraplegia 31<br />
5493 Sp<strong>as</strong>tic paraplegia 39<br />
5494 Sp<strong>as</strong>tic paraplegia 4<br />
5495 Sp<strong>as</strong>tic paraplegia 51<br />
5496 Sp<strong>as</strong>tic paraplegia 5A<br />
5497 Sp<strong>as</strong>tic paraplegia 5B<br />
5498 Sp<strong>as</strong>tic paraplegia 6<br />
5499 Sp<strong>as</strong>tic paraplegia 7<br />
5500 Sp<strong>as</strong>tic paraplegia 8<br />
5501 Sp<strong>as</strong>tic paraplegia 9<br />
5502 Sp<strong>as</strong>tic paraplegia <strong>and</strong> distal muscle w<strong>as</strong>ting caused by<br />
neuropathy target ester<strong>as</strong>e gene mutation<br />
5503 Sp<strong>as</strong>tic paraplegia epilepsy mental retardation<br />
5504 Sp<strong>as</strong>tic paraplegia facial cutaneous lesions<br />
5505 Sp<strong>as</strong>tic paraplegia neuropathy poikiloderma<br />
5506 Sp<strong>as</strong>tic paraplegia with precocious puberty<br />
5507 Sp<strong>as</strong>tic paresis glaucoma mental retardation<br />
5508 Sp<strong>as</strong>tic quadriplegia retinitis pigmentosa mental retardation
5509 Sp<strong>as</strong>ticity mental retardation<br />
5510 Sp<strong>as</strong>ticity multiple exostoses<br />
5511 S<strong>per</strong>matogenesis arrest<br />
5512 Spheroid body myopathy<br />
5513 Sphingolipidosis<br />
5514 Spielmeyer-Vogt dise<strong>as</strong>e<br />
5515 Spina bifida<br />
5516 Spina bifida hypospadi<strong>as</strong><br />
5517 Spinal atrophy ophthalmoplegia pyramidal syndrome<br />
5518 Spinal bulbar motor neuropathy<br />
5519 Spinal cord neopl<strong>as</strong>m<br />
5520 Spinal dysostosis type Anhalt<br />
5521 Spinal intradural arachnoid cysts<br />
5522 Spinal muscular atrophy<br />
5523 Spinal muscular atrophy 1<br />
5524 Spinal muscular atrophy Ryukyuan type<br />
5525 Spinal muscular atrophy type 1 with congenital bone fractures<br />
5526 Spinal muscular atrophy type 2<br />
5527 Spinal muscular atrophy type 3<br />
5528 Spinal muscular atrophy type 4<br />
5529 Spinal muscular atrophy with respiratory distress 1<br />
5530 Spinal shock<br />
5531 Spine rigid cardiomyopathy<br />
5532 Spinocerebellar ataxia<br />
5533 Spinocerebellar ataxia 1<br />
5534 Spinocerebellar ataxia 10<br />
5535 Spinocerebellar ataxia 11<br />
5536 Spinocerebellar ataxia 12<br />
5537 Spinocerebellar ataxia 13<br />
5538 Spinocerebellar ataxia 14<br />
5539 Spinocerebellar ataxia 15<br />
5540 Spinocerebellar ataxia 17<br />
5541 Spinocerebellar ataxia 18<br />
5542 Spinocerebellar ataxia 19<br />
5543 Spinocerebellar ataxia 2<br />
5544 Spinocerebellar ataxia 20<br />
5545 Spinocerebellar ataxia 21<br />
5546 Spinocerebellar ataxia 23<br />
5547 Spinocerebellar ataxia 25<br />
5548 Spinocerebellar ataxia 26
5549 Spinocerebellar ataxia 27<br />
5550 Spinocerebellar ataxia 28<br />
5551 Spinocerebellar ataxia 29<br />
5552 Spinocerebellar ataxia 3<br />
5553 Spinocerebellar ataxia 30<br />
5554 Spinocerebellar ataxia 31<br />
5555 Spinocerebellar ataxia 34<br />
5556 Spinocerebellar ataxia 4<br />
5557 Spinocerebellar ataxia 5<br />
5558 Spinocerebellar ataxia 7<br />
5559 Spinocerebellar ataxia 8<br />
5560 Spinocerebellar ataxia 9<br />
5561 Spinocerebellar ataxia autosomal recessive 1<br />
5562 Spinocerebellar ataxia autosomal recessive 3<br />
5563 Spinocerebellar ataxia autosomal recessive 4<br />
5564 Spinocerebellar ataxia autosomal recessive 5<br />
5565 Spinocerebellar ataxia autosomal recessive 6<br />
5566 Spinocerebellar ataxia autosomal recessive with axonal<br />
neuropathy<br />
5567 Spinocerebellar ataxia type 6<br />
5568 Spinocerebellar ataxia with dysmorphism<br />
5569 Spinocerebellar ataxia X-linked type 2<br />
5570 Spinocerebellar ataxia X-linked type 3<br />
5571 Spinocerebellar ataxia X-linked type 4<br />
5572 Spinocerebellar degeneration <strong>and</strong> corneal dystrophy<br />
5573 Spinocerebellar degenerescence book type<br />
5574 Spirochetes dise<strong>as</strong>e<br />
5575 Spirurida Infections<br />
5576 Spitz nevus<br />
5577 Spleen neopl<strong>as</strong>m<br />
5578 Splenic infarcts<br />
5579 Splenogonadal fusion limb defects micrognatia<br />
5580 Splenomegaly<br />
5581 Split h<strong>and</strong> foot malformation<br />
5582 Split h<strong>and</strong> foot malformation 1<br />
5583 Split h<strong>and</strong> split foot malformation autosomal recessive<br />
5584 Split h<strong>and</strong> split foot nystagmus<br />
5585 Split h<strong>and</strong> urinary anomalies spina bifida<br />
5586 Split h<strong>and</strong>/foot malformation X-linked<br />
5587 Spondylarthropathy
5588 Spondylocamptodactyly<br />
5589 Spondylocarpotarsal synostosis syndrome<br />
5590 Spondylocostal dysostosis 1<br />
5591 Spondylocostal dysostosis 2<br />
5592 Spondylocostal dysostosis 3<br />
5593 Spondylocostal dysostosis 4<br />
5594 Spondyloenchondrodyspl<strong>as</strong>ia<br />
5595 Spondyloepimetaphyseal dyspl<strong>as</strong>ia Genevieve type<br />
5596 Spondyloepimetaphyseal dyspl<strong>as</strong>ia joint laxity<br />
5597 Spondyloepimetaphyseal dyspl<strong>as</strong>ia Matrilin-3 related<br />
5598 Spondyloepimetaphyseal dyspl<strong>as</strong>ia micromelic<br />
5599 Spondyloepimetaphyseal dyspl<strong>as</strong>ia Missouri type<br />
5600 Spondyloepimetaphyseal dyspl<strong>as</strong>ia Shohat type<br />
5601 Spondyloepimetaphyseal dyspl<strong>as</strong>ia Spon<strong>as</strong>trime type<br />
5602 Spondyloepimetaphyseal dyspl<strong>as</strong>ia Strudwick type<br />
5603 Spondyloepimetaphyseal dyspl<strong>as</strong>ia with hypotrichosis<br />
5604 Spondyloepimetaphyseal dyspl<strong>as</strong>ia with multiple dislocations<br />
5605 Spondyloepimetaphyseal dyspl<strong>as</strong>ia X-linked<br />
5606 Spondyloepimetaphyseal dyspl<strong>as</strong>ia x-linked with mental<br />
deterioration<br />
5607 Spondyloepimetaphyseal dyspl<strong>as</strong>ia, Aggrecan type<br />
5608 Spondyloepiphyseal dyspl<strong>as</strong>ia<br />
5609 Spondyloepiphyseal dyspl<strong>as</strong>ia congenita<br />
5610 Spondyloepiphyseal dyspl<strong>as</strong>ia Maroteaux type<br />
5611 Spondyloepiphyseal dyspl<strong>as</strong>ia Omani type<br />
5612 Spondyloepiphyseal dyspl<strong>as</strong>ia tarda autosomal dominant<br />
5613 Spondyloepiphyseal dyspl<strong>as</strong>ia tarda Toledo type<br />
5614 Spondyloepiphyseal dyspl<strong>as</strong>ia tarda X-linked<br />
5615 Spondyloepiphyseal dyspl<strong>as</strong>ia-brachydactyly <strong>and</strong> distinctive<br />
speech<br />
5616 Spondylohypopl<strong>as</strong>ia, arthrogryposis <strong>and</strong> popliteal pterygium<br />
5617 Spondylometaepiphyseal dyspl<strong>as</strong>ia short limb-h<strong>and</strong> type<br />
5618 Spondylometaphyseal dyspl<strong>as</strong>ia Algerian type<br />
5619 Spondylometaphyseal dyspl<strong>as</strong>ia corner fracture type<br />
5620 Spondylometaphyseal dyspl<strong>as</strong>ia E<strong>as</strong>t-African type<br />
5621 Spondylometaphyseal dyspl<strong>as</strong>ia Kozlowski type<br />
5622 Spondylometaphyseal dyspl<strong>as</strong>ia Sedaghatian type<br />
5623 Spondylometaphyseal dyspl<strong>as</strong>ia type A4<br />
5624 Spondylometaphyseal dyspl<strong>as</strong>ia with bowed forearms <strong>and</strong> facial<br />
dysmorphism
5625 Spondylometaphyseal dyspl<strong>as</strong>ia with cone-rod dystrophy<br />
5626 Spondylometaphyseal dyspl<strong>as</strong>ia with dentinogenesis im<strong>per</strong>fecta<br />
5627 Spondylometaphyseal dyspl<strong>as</strong>ia X-linked<br />
5628 Spondylo<strong>per</strong>ipheral dyspl<strong>as</strong>ia<br />
5629 Spondylospinal thoracic dysostosis<br />
5630 Spondylothoracic dysostosis<br />
5631 Spontaneous coronary artery dissection<br />
5632 Spontaneous pneumothorax familial type<br />
5633 Sporotrichosis<br />
5634 Spotted fever<br />
5635 Spranger Schinzel Myers syndrome<br />
5636 Sprengel deformity<br />
5637 Squamous cell carcinoma <strong>of</strong> the head <strong>and</strong> neck<br />
5638 St Anthony's fire<br />
5639 Stachybotrys chartarum<br />
5640 Stalker Chitayat syndrome<br />
5641 Stampe sorensen syndrome<br />
5642 Staphylococcal food poisoning<br />
5643 Staphylococcal toxic shock syndrome<br />
5644 STAR syndrome<br />
5645 Stargardt dise<strong>as</strong>e<br />
5646 Stargardt macular degeneration absent or hypopl<strong>as</strong>tic corpus<br />
callosum mental retardation <strong>and</strong> dysmorphic features<br />
5647 Status epilepticus<br />
5648 Steatocystoma multiplex<br />
5649 Steatocystoma multiplex with natal teeth<br />
5650 Steinfeld syndrome<br />
5651 Stenotrophomon<strong>as</strong> maltophilia<br />
5652 Sterility due to immotile flagella<br />
5653 Sternal cleft<br />
5654 Sternal cyst v<strong>as</strong>cular anomalies<br />
5655 Sternal malformation v<strong>as</strong>cular dyspl<strong>as</strong>ia <strong>as</strong>sociatio<br />
5656 Steroid dehydrogen<strong>as</strong>e deficiency dental anomalies<br />
5657 Stevens-Johnson syndrome<br />
5658 Stewart Treves syndrome<br />
5659 Stickler syndrome<br />
5660 Stickler syndrome type 1<br />
5661 Stickler syndrome, type 2<br />
5662 Stickler syndrome, type 3<br />
5663 Stiff <strong>per</strong>son syndrome
5664 Stiff skin syndrome<br />
5665 Still's dise<strong>as</strong>e adult onset<br />
5666 Stocco dos Santos syndrome<br />
5667 Stoelinga de Koomen Davis syndrome<br />
5668 Stoll Alembik Finck syndrome<br />
5669 Stomach cancer, childhood<br />
5670 Stomach cancer, familial<br />
5671 Stomach carcinoma<br />
5672 Stomatocytosis I<br />
5673 Stomatocytosis II<br />
5674 Storm syndrome<br />
5675 Stratton-Garcia-Young syndrome<br />
5676 Streptococcal Group A inv<strong>as</strong>ive dise<strong>as</strong>e<br />
5677 Streptococcal Group B inv<strong>as</strong>ive dise<strong>as</strong>e<br />
5678 Stress cardiomyopathy<br />
5679 Striatonigral degeneration infantile<br />
5680 Strongyloidi<strong>as</strong>is<br />
5681 Sturge-Weber syndrome<br />
5682 Stuve-Wiedemann syndrome<br />
5683 Subacute sclerosing panencephalitis<br />
5684 Subaortic stenosis short stature syndrome<br />
5685 Subcortical b<strong>and</strong> heterotopia<br />
5686 Subcutaneous panniculitis-like T-cell lymphoma<br />
5687 Subependymal giant cell <strong>as</strong>trocytoma<br />
5688 Subependymal nodular heterotopia<br />
5689 Subependymoma<br />
5690 Subpulmonary stenosis<br />
5691 Subvalvular aortic stenosis<br />
5692 Succinic acidemia<br />
5693 Succinic acidemia lactic acidosis congenital<br />
5694 Succinic semialdehyde dehydrogen<strong>as</strong>e deficiency<br />
5695 Sudden Arrhythmia Death Syndrome<br />
5696 Sudden infant death syndrome<br />
5697 Sugarman brachydactyly<br />
5698 Sulfite oxid<strong>as</strong>e deficiency<br />
5699 Summitt syndrome<br />
5700 SUNCT headache<br />
5701 Su<strong>per</strong>ficial siderosis <strong>of</strong> the central nervous system<br />
5702 Su<strong>per</strong>ficial spreading melanoma<br />
5703 Su<strong>per</strong>ior canal dehiscence syndrome
5704 Su<strong>per</strong>ior limbic keratoconjunctivitis<br />
5705 Su<strong>per</strong>ior mesenteric artery syndrome<br />
5706 Su<strong>per</strong>ior vena cava syndrome<br />
5707 Su<strong>per</strong>numerary nipples<br />
5708 Supraglottic laryngeal cancer<br />
5709 Supranuclear ocular palsy<br />
5710 Supratentorial primitive neuroectodermal tumor<br />
5711 Supratentorial primitive neuroectodermal tumors, childhood<br />
5712 Supraumbilical midabdominal raphe <strong>and</strong> facial cavernous<br />
hemangiom<strong>as</strong><br />
5713 Supravalvular aortic stenosis<br />
5714 Susac syndrome<br />
5715 Sutton dise<strong>as</strong>e 2<br />
5716 Swyer syndrome<br />
5717 Swyer-James syndrome<br />
5718 Sydenham's chorea<br />
5719 Symm<strong>as</strong>tia<br />
5720 Symmetrical thalamic calcifications<br />
5721 Symphalangism brachydactyly craniosynostosis<br />
5722 Symphalangism distal<br />
5723 Symphalangism familial proximal<br />
5724 Symphalangism short stature accessory testis<br />
5725 Symphalangism with multiple anomalies <strong>of</strong> h<strong>and</strong>s <strong>and</strong> feet<br />
5726 Symphalangism, distal, with microdontia, dental pulp stones, <strong>and</strong><br />
narrowed zygomatic arch<br />
5727 Syncamptodactyly scoliosis<br />
5728 Syndactyly cataract mental retardation<br />
5729 Syndactyly Cenani Lenz type<br />
5730 Syndactyly ectodermal dyspl<strong>as</strong>ia cleft lip palate h<strong>and</strong> foot<br />
5731 Syndactyly type 1<br />
5732 Syndactyly type 1 with cataracts <strong>and</strong> mental retardation<br />
5733 Syndactyly type 2<br />
5734 Syndactyly type 3<br />
5735 Syndactyly type 4<br />
5736 Syndactyly type 5<br />
5737 Syndactyly type 9<br />
5738 Syndactyly-polydactyly-earlobe syndrome<br />
5739 Syndesmodyspl<strong>as</strong>ic dwarfism<br />
5740 Syngnathia cleft palate<br />
5741 Syngnathia multiple anomalies
5742 Synostoses, tarsal, carpal, <strong>and</strong> digital<br />
5743 Synostosis <strong>of</strong> talus <strong>and</strong> calcaneus short stature<br />
5744 Synovial cancer<br />
5745 Synovial Chondromatosis<br />
5746 Synovial chondromatosis, familial with dwarfism<br />
5747 Synovial sarcoma<br />
5748 Synovitis<br />
5749 Syphilitic <strong>as</strong>eptic meningitis<br />
5750 Syphilitic myelopathy<br />
5751 Syringobulbia<br />
5752 Syringocystadenoma papilliferum<br />
5753 Syringom<strong>as</strong> natal teeth oligodontia<br />
5754 Syringomelia hy<strong>per</strong>keratosis<br />
5755 Syringomyelia<br />
5756 Systemic c<strong>and</strong>idi<strong>as</strong>is<br />
5757 Systemic capillary leak syndrome<br />
5758 Systemic m<strong>as</strong>tocytosis<br />
5759 Systemic necrotizing angitis<br />
5760 Systemic onset juvenile idiopathic arthritis<br />
5761 Systemic scleroderma<br />
5762 T cell immunodeficiency primary<br />
5763 Tabatznik syndrome<br />
5764 Tachycardia hy<strong>per</strong>tension microphthalmia <strong>and</strong> hy<strong>per</strong>glycinuria<br />
5765 Takay<strong>as</strong>u arteritis<br />
5766 Talipes equinovarus<br />
5767 Talonavicular coalition<br />
5768 Talo-patello-scaphoid osteolysis, synovitis, <strong>and</strong> short fourth<br />
metacarpals<br />
5769 Tang Hsi Ryu syndrome<br />
5770 Tangier dise<strong>as</strong>e<br />
5771 TAR syndrome<br />
5772 Tarlov cysts<br />
5773 TARP syndrome<br />
5774 Tarsal carpal coalition syndrome<br />
5775 Tarsal tunnel syndrome<br />
5776 TAU syndrome<br />
5777 Taurodontia absent teeth sparse hair<br />
5778 Taurodontism<br />
5779 Taurodontism, microdontia, <strong>and</strong> dens invaginatus<br />
5780 Tay Sachs dise<strong>as</strong>e
5781 T-cell immunodeficiency, congenital alopecia <strong>and</strong> nail dystrophy<br />
5782 T-cell lymphoma 1A<br />
5783 Teebi Kaurah syndrome<br />
5784 Teebi Naguib Al Awadi syndrome<br />
5785 Teebi Shaltout syndrome<br />
5786 Teeth noneruption <strong>of</strong> with maxillary hypopl<strong>as</strong>ia <strong>and</strong> genu valgum<br />
5787 Tel H<strong>as</strong>homer camptodactyly syndrome<br />
5788 Telencephalic leukoencephalopathy<br />
5789 Telfer Sugar Jaeger syndrome<br />
5790 TEMPI syndrome<br />
5791 Temporal epilepsy, familial<br />
5792 Temporom<strong>and</strong>ibular ankylosis<br />
5793 Temtamy preaxial brachydactyly syndrome<br />
5794 Temtamy syndrome<br />
5795 Tendons, extensor, <strong>of</strong> fingers, anomalous insertion <strong>of</strong><br />
5796 Teratoma with malignant transformation<br />
5797 Testicular cancer<br />
5798 Testicular cancer, childhood<br />
5799 Testotoxicosis<br />
5800 Tetanus<br />
5801 Tetraamelia multiple malformations X-linked<br />
5802 Tetra-amelia syndrome<br />
5803 Tetraamelia with ectodermal dyspl<strong>as</strong>ia <strong>and</strong> lacrimal duct<br />
abnormalities<br />
5804 Tetraamelia with pulmonary hypopl<strong>as</strong>ia<br />
5805 Tetrahydrobiopterin deficiency<br />
5806 Tetralogy <strong>of</strong> Fallot<br />
5807 Tetralogy <strong>of</strong> fallot <strong>and</strong> glaucoma<br />
5808 Tetramelic monodactyly<br />
5809 Tetraploidy<br />
5810 Tetr<strong>as</strong>omy 9p<br />
5811 Tetr<strong>as</strong>omy X<br />
5812 Thai symphalangism syndrome<br />
5813 Thakker-Donnai syndrome<br />
5814 Thalamic degeneration symmetrical infantile<br />
5815 Thalamic degeneration, symmetric infantile<br />
5816 Thal<strong>as</strong>semia<br />
5817 Thanatophoric dyspl<strong>as</strong>ia<br />
5818 Thanatophoric dyspl<strong>as</strong>ia Gl<strong>as</strong>gow variant<br />
5819 Thanatophoric dyspl<strong>as</strong>ia type 1
5820 Thanatophoric dyspl<strong>as</strong>ia type 2<br />
5821 Theodor Hertz Goodman syndrome<br />
5822 Thiamine responsive megalobl<strong>as</strong>tic anemia syndrome<br />
5823 Thickened earlobes with conductive deafness from incus-stapes<br />
abnormalities<br />
5824 Thiol<strong>as</strong>e deficiency<br />
5825 Thiopurine S methyltranfer<strong>as</strong>e deficiency<br />
5826 Thom<strong>as</strong> syndrome<br />
5827 Thompson Baraitser syndrome<br />
5828 Thoracic celosomia<br />
5829 Thoracic dyspl<strong>as</strong>ia hydrocephalus syndrome<br />
5830 Thoracic outlet syndrome<br />
5831 Thoraco abdominal enteric duplication<br />
5832 Thoraco limb dyspl<strong>as</strong>ia Rivera type<br />
5833 Thoracolaryngopelvic dyspl<strong>as</strong>ia<br />
5834 Thoracomelic dyspl<strong>as</strong>ia<br />
5835 Thoracopelvic dysostosis<br />
5836 Thromb<strong>as</strong>thenia<br />
5837 Thrombocytopathy <strong>as</strong>plenia miosis<br />
5838 Thrombocytopenia 2<br />
5839 Thrombocytopenia cerebellar hypopl<strong>as</strong>ia short stature<br />
5840 Thrombocytopenia Robin sequence<br />
5841 Thrombocytopenia with elevated serum IgA <strong>and</strong> renal dise<strong>as</strong>e<br />
5842 Thrombocytopenia, acquired amegakaryocytic<br />
5843 Thrombomodulin anomalies, familial<br />
5844 Thrombotic thrombocytopenic purpura, acquired<br />
5845 Thrombotic thrombocytopenic purpura, congenital<br />
5846 Thumb absent short stature immune deficiency<br />
5847 Thumb deformity<br />
5848 Thumb deformity, alopecia, pigmentation anomaly<br />
5849 Thumb stiff brachydactyly mental retardation<br />
5850 Thunderclap headache<br />
5851 Thymic epithelial tumor<br />
5852 Thymic hy<strong>per</strong>pl<strong>as</strong>ia<br />
5853 Thymic-Renal-Anal-Lung dyspl<strong>as</strong>ia<br />
5854 Thymoma, childhood<br />
5855 Thyrocerebral-retinal syndrome<br />
5856 Thyroglossal tract cyst<br />
5857 Thyroid agenesis<br />
5858 Thyroid cancer, anapl<strong>as</strong>tic
5859 Thyroid cancer, childhood<br />
5860 Thyroid cancer, follicular<br />
5861 Thyroid cancer, medullary<br />
5862 Thyroid hormone pl<strong>as</strong>ma membrane transport defect<br />
5863 Thyrotoxic <strong>per</strong>iodic paralysis<br />
5864 Thyrotropin deficiency, isolated<br />
5865 Tibia absent polydactyly arachnoid cyst<br />
5866 Tibiae bowed radial anomalies osteopenia fracture<br />
5867 Tibial apl<strong>as</strong>ia ectrodactyly hydrocephalus<br />
5868 Tibial hemimelia cleft lip palate<br />
5869 Tick paralysis<br />
5870 Tick-borne encephalitis<br />
5871 Tièche-Jad<strong>as</strong>sohn nevus<br />
5872 Tietz syndrome<br />
5873 Tietze syndrome<br />
5874 Tight skin contracture syndrome, lethal<br />
5875 Tiglic acidemia<br />
5876 T-Lymphocytopenia<br />
5877 Togaviridae dise<strong>as</strong>e<br />
5878 Tollner Horst Manzke syndrome<br />
5879 Tolosa Hunt syndrome<br />
5880 Tome Brunet Fardeau syndrome<br />
5881 Tongue cancer<br />
5882 Toni-Debre-Fanconi syndrome<br />
5883 Toni-Fanconi syndrome<br />
5884 Tonoki syndrome<br />
5885 TORCH syndrome<br />
5886 Torg Winchester syndrome<br />
5887 Toriello Carey syndrome<br />
5888 Torsion dystonia<br />
5889 Torsion dystonia with onset in infancy<br />
5890 Torticollis keloids cryptorchidism renal dyspl<strong>as</strong>ia<br />
5891 Torticollis, familial<br />
5892 Total Hypotrichosis, Mari type<br />
5893 Townes-Brocks syndrome<br />
5894 Toxic epidermal necrolysis<br />
5895 Toxocari<strong>as</strong>is<br />
5896 Trabecular fiber myopathy<br />
5897 Tracheal agenesis<br />
5898 Tracheal agenesis without tracheoesophageal fistula
5899 Tracheobronchomalacia<br />
5900 Tracheobronchomegaly<br />
5901 Tracheobronchopathia osteopl<strong>as</strong>tica<br />
5902 Tracheoesophageal fistula<br />
5903 Tracheoesophageal fistula symphalangism<br />
5904 Tracheophageal fistula hypospadi<strong>as</strong><br />
5905 Trachoma<br />
5906 Tranebjaerg Svejgaard syndrome<br />
5907 Transaldol<strong>as</strong>e deficiency<br />
5908 Transcobalamin 1 deficiency<br />
5909 Transient acantholytic dermatosis<br />
5910 Transient bullous dermolysis <strong>of</strong> the newborn<br />
5911 Transient erythrobl<strong>as</strong>topenia <strong>of</strong> childhood<br />
5912 Transient global amnesia<br />
5913 Transient neonatal arthrogryposis<br />
5914 Transient neonatal diabetes mellitus<br />
5915 Transitional cell carcinoma<br />
5916 Transposition <strong>of</strong> the great arteries<br />
5917 Transverse limb deficiency hemangioma<br />
5918 Transverse myelitis<br />
5919 Treacher Collins syndrome<br />
5920 Treacher Collins syndrome 3<br />
5921 Treft Sanborn Carey syndrome<br />
5922 Trehal<strong>as</strong>e deficiency<br />
5923 Tremor hereditary essential, 1<br />
5924 Tremor hereditary essential, 2<br />
5925 Tremors, nystagmus <strong>and</strong> duodenal ulcers<br />
5926 Treponema infection<br />
5927 Trichinosis<br />
5928 Tricho odonto onycho dermal syndrome<br />
5929 Tricho odonto onychodyspl<strong>as</strong>ia syndactyly dominant type<br />
5930 Tricho onychic dyspl<strong>as</strong>ia<br />
5931 Tricho onycho hypohidrotic dyspl<strong>as</strong>ia<br />
5932 Tricho retino dento digital syndrome<br />
5933 Trichodental syndrome<br />
5934 Tricho-dento-osseous syndrome<br />
5935 Tricho-dento-osseous syndrome 1<br />
5936 Trichodyspl<strong>as</strong>ia xeroderma<br />
5937 Trich<strong>of</strong>olliculoma<br />
5938 Tricho-hepato-enteric syndrome
5939 Trichomalacia<br />
5940 Trichomegaly with intellectual disability, dwarfism <strong>and</strong><br />
pigmentary degeneration <strong>of</strong> retina<br />
5941 Trichomegaly, cataract, <strong>and</strong> hereditary spherocytosis<br />
5942 Trichoodontoonychial dyspl<strong>as</strong>ia<br />
5943 Trichorhinophalangeal syndrome type 1<br />
5944 Trichorhinophalangeal syndrome type 2<br />
5945 Trichorhinophalangeal syndrome type 3<br />
5946 Trichorrhexis nodosa syndrome<br />
5947 Trichoscyphodyspl<strong>as</strong>ia<br />
5948 Trichost<strong>as</strong>is spinulosa<br />
5949 Trichothiodystrophy nonphotosensitive<br />
5950 Trichothiodystrophy photosensitive<br />
5951 Trichotillomania<br />
5952 Trichuri<strong>as</strong>is<br />
5953 Tricuspid atresia<br />
5954 Trigeminal neuralgia<br />
5955 Trigger thumb<br />
5956 Trigonobrachycephaly, bulbous bifid nose, micrognathia, <strong>and</strong><br />
abnormalities <strong>of</strong> the h<strong>and</strong>s <strong>and</strong> feet<br />
5957 Trigonocephaly bifid nose acral anomalies<br />
5958 Trigonocephaly ptosis mental retardation<br />
5959 Trigonomacrocephaly tibial defect polydactyly<br />
5960 Trihydroxycholestanoylcoa oxid<strong>as</strong>e isolated deficiency<br />
5961 Trimethylaminuria<br />
5962 Triopia<br />
5963 Triose phosphate-isomer<strong>as</strong>e deficiency<br />
5964 Triphalangeal thumb non opposable<br />
5965 Triphalangeal thumb polysyndactyly syndrome<br />
5966 Triphalangeal thumbs brachyectrodactyly<br />
5967 Triple A syndrome<br />
5968 Triploidy<br />
5969 Trismus-pseudocamptodactyly syndrome<br />
5970 Trisomy 11 mosaicism<br />
5971 Trisomy 12 mosaicism<br />
5972 Trisomy 13<br />
5973 Trisomy 17 mosaicism<br />
5974 Trisomy 18<br />
5975 Trisomy 2 mosaicism<br />
5976 Trisomy 22
5977 Trisomy 3 mosaicism<br />
5978 Trochlea <strong>of</strong> the humerus apl<strong>as</strong>ia <strong>of</strong><br />
5979 Trochlear dyspl<strong>as</strong>ia<br />
5980 Trophobl<strong>as</strong>tic tumor placental site<br />
5981 Tropical sprue<br />
5982 Trueb Burg Bottani syndrome<br />
5983 Trypanosomi<strong>as</strong>is, Human E<strong>as</strong>t-African<br />
5984 Trypanosomi<strong>as</strong>is, Human West-African<br />
5985 Tryptophanuria with dwarfism<br />
5986 Tsukahara Azuno Kajii syndrome<br />
5987 Tuberculosis<br />
5988 Tuberculous meningitis<br />
5989 Tuberculous uveitis<br />
5990 Tuberous sclerosis<br />
5991 Tuberous sclerosis, type 1<br />
5992 Tuberous sclerosis, type 2<br />
5993 Tubular aggregate myopathy<br />
5994 Tubulointerstitial nephritis <strong>and</strong> uveitis<br />
5995 Tucker syndrome<br />
5996 Tufted angioma<br />
5997 Tufted hair folliculitis<br />
5998 Tufting enteropathy<br />
5999 Tukel syndrome<br />
6000 Tularemia<br />
6001 Tungi<strong>as</strong>is<br />
6002 Tunglang Savage Bellman syndrome<br />
6003 Turcot syndrome<br />
6004 Turner syndrome<br />
6005 Twenty-nail dystrophy<br />
6006 Twin twin transfusion syndrome<br />
6007 Tylosis<br />
6008 Tylosis with esophageal cancer<br />
6009 Type 1 pl<strong>as</strong>minogen deficiency<br />
6010 Typhoid fever<br />
6011 Typhus<br />
6012 Tyrosinemia type 1<br />
6013 Tyrosinemia type 2<br />
6014 Tyrosinemia type 3<br />
6015 Tyrosine-oxid<strong>as</strong>e temporary deficiency<br />
6016 Uhl anomaly
6017 Ulcerative proctitis<br />
6018 Ulerythema ophryogenesis<br />
6019 Ulna <strong>and</strong> fibula absence <strong>of</strong> with severe limb deficiency<br />
6020 Ulna <strong>and</strong> fibula, hypopl<strong>as</strong>ia <strong>of</strong><br />
6021 Ulna hypopl<strong>as</strong>ia with mental retardation<br />
6022 Ulna metaphyseal dyspl<strong>as</strong>ia syndrome<br />
6023 Ulnar hypopl<strong>as</strong>ia lobster claw deformity <strong>of</strong> feet<br />
6024 Ulnar-mammary syndrome<br />
6025 Umbilical cord ulceration <strong>and</strong> intestinal atresia<br />
6026 Uncombable hair syndrome<br />
6027 Uniparental disomy <strong>of</strong> 6<br />
6028 Uniparental disomy <strong>of</strong> 13<br />
6029 Uniparental disomy <strong>of</strong> chromosome 11<br />
6030 Uniparental disomy <strong>of</strong> chromosome 2<br />
6031 Uniparental disomy, paternal, chromosome 14<br />
6032 Unna-Thost palmoplantar keratoderma<br />
6033 Unverricht-Lundborg dise<strong>as</strong>e<br />
6034 Upington dise<strong>as</strong>e<br />
6035 Upton Young syndrome<br />
6036 Urachal adenocarcinoma<br />
6037 Urachal cancer<br />
6038 Urachal cyst<br />
6039 Urea cycle disorders<br />
6040 Urethral cancer<br />
6041 Urethral obstruction sequence<br />
6042 Urocan<strong>as</strong>e deficiency<br />
6043 Urogenital adyspl<strong>as</strong>ia<br />
6044 Urogenital adyspl<strong>as</strong>ia, hereditary<br />
6045 Uropathy distal obstructive polydactyly<br />
6046 Usher syndrome<br />
6047 Usher syndrome type 2A<br />
6048 Usher syndrome type 3<br />
6049 Usher syndrome, type 1<br />
6050 Usher syndrome, type 1B<br />
6051 Usher syndrome, type 1C<br />
6052 Usher syndrome, type 1D<br />
6053 Usher syndrome, type 1E<br />
6054 Usher syndrome, type 1F<br />
6055 Usher syndrome, type 2B<br />
6056 Usher syndrome, type 2C
6057 Usual interstitial pneumonia<br />
6058 Uterine sarcoma<br />
6059 UV sensitive syndrome<br />
6060 Uveal dise<strong>as</strong>es<br />
6061 VACTERL <strong>as</strong>sociation<br />
6062 VACTERL <strong>as</strong>sociation with hydrocephaly, X-linked<br />
6063 VACTERL hydrocephaly<br />
6064 Vacuolar myopathy<br />
6065 Vagina, absence <strong>of</strong><br />
6066 Vaginal cancer<br />
6067 Vagneur Triolle Ri<strong>per</strong>t syndrome<br />
6068 Valinemia<br />
6069 Van Allen Myhre syndrome<br />
6070 Van Benthem-Driessen-Hanveld syndrome<br />
6071 Van Bogaert-Hozay syndrome<br />
6072 Van Buchem dise<strong>as</strong>e type 2<br />
6073 Van Den Bosch syndrome<br />
6074 Van der Woude syndrome<br />
6075 Van der Woude syndrome 2<br />
6076 Van Maldergem Wetzburger Verloes syndrome<br />
6077 Van Regemorter Pierquin Vamos syndrome<br />
6078 Variant Creutzfeldt-Jakob dise<strong>as</strong>e<br />
6079 Varicella virus antenatal infection<br />
6080 Variegate porphyria<br />
6081 V<strong>as</strong>cular hyalinosis<br />
6082 V<strong>as</strong>cular malposition<br />
6083 V<strong>as</strong>culopathy, retinal, with cerebral leukodystrophy<br />
6084 V<strong>as</strong>quez Hurst Sotos syndrome<br />
6085 Vein <strong>of</strong> Galen aneurysm<br />
6086 Vel<strong>of</strong>acioskeletal syndrome<br />
6087 Venencie Powell Gordon Winkelmann syndrome<br />
6088 Venezuelan equine encephalitis<br />
6089 Ventricular extr<strong>as</strong>ystoles with syncopal episodes - <strong>per</strong>odactyly -<br />
Robin sequence<br />
6090 Ventricular fibrillation, idiopathic<br />
6091 Ventricular septal defects<br />
6092 Ventriculo-arterial discordance, isolated<br />
6093 Ventruto Digirolamo Festa syndrome<br />
6094 Verloes Bourguignon syndrome<br />
6095 Verloes Van Maldergem Marneffe syndrome
6096 Verloove Vanhorick Brubakk syndrome<br />
6097 Vernal keratitis<br />
6098 Vernal keratoconjunctivitis<br />
6099 Verrucous nevus acanthokeratolytic<br />
6100 Vertebral body fusion overgrowth<br />
6101 Vertebral fusion posterior lumbosacral blepharoptosis<br />
6102 Vertical talus, congenital<br />
6103 Vestibulocochlear dysfunction, progressive<br />
6104 Vibratory angioedema<br />
6105 Vibrio vulnificus infection<br />
6106 Vici syndrome<br />
6107 Viljoen Kallis Voges syndrome<br />
6108 Viljoen Winship syndrome<br />
6109 VIPoma<br />
6110 Viral hemorrhagic fever<br />
6111 Virilizing ovarian tumor<br />
6112 Virus <strong>as</strong>sociated hemophagocytic syndrome<br />
6113 Visceral neuropathy familial<br />
6114 Visceral steatosis<br />
6115 Visual pathway <strong>and</strong> hypothalamic glioma, childhood<br />
6116 Vitamin A embryopathy<br />
6117 Vitiligo mental retardation facial dysmorphism uremia<br />
6118 Vitreoretinal degeneration<br />
6119 Vitreoretinochoroidopathy dominant<br />
6120 VLCAD deficiency<br />
6121 Vocal cord dysfunction familial<br />
6122 Vogt-Koyanagi-Harada syndrome<br />
6123 Vohwinkel syndrome<br />
6124 Von Hippel-Lindau syndrome<br />
6125 Vulvar cancer<br />
6126 Vulvar Vestibulitis Syndrome<br />
6127 Waardenburg syndrome<br />
6128 Waardenburg syndrome type 1<br />
6129 Waardenburg syndrome type 2<br />
6130 Waardenburg syndrome type 2A<br />
6131 Waardenburg syndrome type 2B<br />
6132 Waardenburg syndrome type 3<br />
6133 Waardenburg syndrome type 4<br />
6134 Wagner syndrome<br />
6135 WAGR syndrome
6136 Walbaum Titran Durieux Crepin syndrome<br />
6137 Waldenstrom macroglobulinemia<br />
6138 Waldmann dise<strong>as</strong>e<br />
6139 Walker Dyson syndrome<br />
6140 Walker-Warburg syndrome<br />
6141 Wallenberg syndrome<br />
6142 Wallerian degeneration<br />
6143 W<strong>and</strong>ering spleen<br />
6144 Warburg micro syndrome<br />
6145 Warfarin syndrome<br />
6146 Warm antibody hemolytic anemia<br />
6147 Warman Mulliken Hayward syndrome<br />
6148 Warthin tumor<br />
6149 Waterhouse–Friderichsen syndrome<br />
6150 Watermelon stomach<br />
6151 Watson syndrome<br />
6152 WDHA syndrome<br />
6153 Weaver Johnson syndrome<br />
6154 Weaver like syndrome<br />
6155 Weaver syndrome<br />
6156 Weaver Williams syndrome<br />
6157 Weber syndrome<br />
6158 Webster Deming syndrome<br />
6159 Wegener's granulomatosis<br />
6160 Wegmann Jones Smith syndrome<br />
6161 Weill-Marchesani syndrome<br />
6162 Weinstein Kliman Scully syndrome<br />
6163 Weissenbacher-Zweymuller syndrome<br />
6164 Wel<strong>and</strong>er distal myopathy, Swedish type<br />
6165 Weleber Hecht Bigley syndrome<br />
6166 Wellesley Carmen French syndrome<br />
6167 Wells syndrome<br />
6168 Wells-Jankovic syndrome<br />
6169 Werner's syndrome<br />
6170 Wernicke-Korsak<strong>of</strong>f syndrome<br />
6171 West nile encephalitis<br />
6172 West nile virus<br />
6173 West syndrome<br />
6174 Western equine encephalitis<br />
6175 Westphal dise<strong>as</strong>e
6176 Weyers acr<strong>of</strong>acial dysostosis<br />
6177 Weyers ulnar ray/oligodactyly syndrome<br />
6178 WHIM syndrome<br />
6179 Whipple dise<strong>as</strong>e<br />
6180 Whis<strong>per</strong>ing dysphonia, hereditary<br />
6181 Whistling face syndrome, recessive form<br />
6182 Whitaker syndrome<br />
6183 White forelock with malformations<br />
6184 White matter hypopl<strong>as</strong>ia, corpus callosum agenesia, <strong>and</strong> mental<br />
retardation<br />
6185 White platelet syndrome<br />
6186 White sponge nevus <strong>of</strong> cannon<br />
6187 Whooping cough<br />
6188 Wieacker syndrome<br />
6189 Wiedemann Grosse Dibbern syndrome<br />
6190 Wiedemann Oldigs Op<strong>per</strong>mann syndrome<br />
6191 Wiedemann Opitz syndrome<br />
6192 Wildervanck syndrome<br />
6193 Wilkes Stevenson syndrome<br />
6194 Willems De vries syndrome<br />
6195 Williams syndrome<br />
6196 Wilms' tumor<br />
6197 Wilms tumor <strong>and</strong> radial bilateral apl<strong>as</strong>ia<br />
6198 Wilson dise<strong>as</strong>e<br />
6199 Wilson-Mikity syndrome<br />
6200 Wilson-Turner X-linked mental retardation syndrome<br />
6201 Windblown h<strong>and</strong><br />
6202 Winkelman Bethge Pfeiffer syndrome<br />
6203 Winter Harding Hyde syndrome<br />
6204 Wisconsin syndrome<br />
6205 Wiskott Aldrich syndrome<br />
6206 Witkop syndrome<br />
6207 Wittwer syndrome<br />
6208 Wolffian tumor<br />
6209 Wolff-Parkinson-White syndrome<br />
6210 Wolf-Hirschhorn syndrome<br />
6211 Wolfram syndrome<br />
6212 Wolman dise<strong>as</strong>e<br />
6213 Woodhouse Sakati syndrome<br />
6214 Woods Black Norbury syndrome
6215 Woolly hair hypotrichosis everted lower lip <strong>and</strong> outst<strong>and</strong>ing ears<br />
6216 Woolly hair syndrome<br />
6217 Worster Drought syndrome<br />
6218 Wright Dyck syndrome<br />
6219 Wrinkly skin syndrome<br />
6220 WT limb blood syndrome<br />
6221 Wyburn M<strong>as</strong>on's syndrome<br />
6222 Xanthinuria type 1<br />
6223 Xanthinuria type 2<br />
6224 Xanthogranulomatous cholecystitis<br />
6225 Xanthogranulomatous sialadenitis<br />
6226 Xeroderma pigmentosum<br />
6227 Xeroderma pigmentosum type 7<br />
6228 Xeroderma pigmentosum, type 1<br />
6229 Xeroderma pigmentosum, type 2<br />
6230 Xeroderma pigmentosum, type 3<br />
6231 Xeroderma pigmentosum, type 5<br />
6232 Xeroderma pigmentosum, type 6<br />
6233 Xeroderma pigmentosum, type 9<br />
6234 Xeroderma pigmentosum, variant type<br />
6235 Xeroderma talipes enamel defects<br />
6236 XFE progeroid syndrome<br />
6237 XK aprosencephaly<br />
6238 X-linked adrenal hypopl<strong>as</strong>ia congenita<br />
6239 X-linked agammaglobulinemia<br />
6240 X-linked Charcot-Marie-Tooth dise<strong>as</strong>e type 5<br />
6241 X-linked congenital stationary night blindness<br />
6242 X-linked creatine deficiency<br />
6243 X-linked dominant scapulo<strong>per</strong>oneal myopathy<br />
6244 X-linked hypohidrotic ectodermal dyspl<strong>as</strong>ia<br />
6245 X-linked ichthyosis<br />
6246 X-linked lymphoproliferative syndrome<br />
6247 X-linked lymphoproliferative syndrome 1<br />
6248 X-linked lymphoproliferative syndrome 2<br />
6249 X-linked magnesium deficiency with Epstein-Barr virus infection<br />
<strong>and</strong> neopl<strong>as</strong>ia<br />
6250 X-linked mental retardation <strong>and</strong> macro-orchidism<br />
6251 X-linked mental retardation crani<strong>of</strong>acial abnormal microcephaly<br />
club<br />
6252 X-linked mental retardation De silva type
6253 X-linked mental retardation Gustavson type<br />
6254 X-linked mental retardation type Martinez<br />
6255 X-linked mental retardation type Raynaud<br />
6256 X-linked mental retardation type Schutz<br />
6257 X-linked mental retardation type Wittwer<br />
6258 X-linked myopathy with excessive autophagy<br />
6259 X-linked <strong>per</strong>iventricular heterotopia<br />
6260 X-linked severe combined immunodeficiency<br />
6261 X-linked thrombocytopenia<br />
6262 X-linked visceral heterotaxy 1<br />
6263 Y chromosome infertility<br />
6264 Y chromosome <strong>per</strong>icentric inversion<br />
6265 Yaws<br />
6266 Yellow fever<br />
6267 Yellow nail syndrome<br />
6268 Yemenite deaf-blind hypopigmentation syndrome<br />
6269 Yolk sac tumor<br />
6270 Yorifuji Okuno syndrome<br />
6271 Young Hughes syndrome<br />
6272 Young syndrome<br />
6273 Yunis Varon syndrome<br />
6274 Yusho Dise<strong>as</strong>e<br />
6275 Zadik Barak Levin syndrome<br />
6276 ZAP-70 deficiency<br />
6277 Zazam Sheriff Phillips syndrome<br />
6278 Zechi Ceide syndrome<br />
6279 Zellweger syndrome<br />
6280 Zerres Rietschel Majewski syndrome<br />
6281 Zlotogora syndrome<br />
6282 Zollinger-Ellison syndrome<br />
6283 Zori Stalker Williams syndrome<br />
6284 Zunich neuroectodermal syndrome<br />
6285 Zuska's dise<strong>as</strong>e<br />
6286 Zygomycosis<br />
6287 11-beta-hydroxyl<strong>as</strong>e deficiency<br />
6288 15q13.3 microdeletion syndrome<br />
6289 16p11.2 deletion syndrome<br />
6290 16q24.3 microdeletion syndrome<br />
6291 17-alpha-hydroxyl<strong>as</strong>e deficiency<br />
6292 17-beta hydroxysteroid dehydrogen<strong>as</strong>e 3 deficiency
6293 17q21.31 microdeletion syndrome<br />
6294 17q23.1q23.2 microdeletion syndrome<br />
6295 18 Hydroxyl<strong>as</strong>e deficiency<br />
6296 19p13.12 microdeletion syndrome<br />
6297 1q21.1 microdeletion syndrome<br />
6298 1q44 microdeletion syndrome<br />
6299 2,4-Dienoyl-CoA reduct<strong>as</strong>e deficiency<br />
6300 21-hydroxyl<strong>as</strong>e deficiency<br />
6301 22q11.2 deletion syndrome<br />
6302 22q11.2 duplication syndrome<br />
6303 22q13.3 deletion syndrome<br />
6304 2-hydroxyethyl methacrylate sensitization<br />
6305 2-Hydroxyglutaric aciduria<br />
6306 2-methyl-3-hydroxybutyric aciduria<br />
6307 2-Methylacetoacetyl CoA thiol<strong>as</strong>e deficiency<br />
6308 2-methylbutyryl-CoA dehydrogen<strong>as</strong>e deficiency<br />
6309 2q23.1 microdeletion syndrome<br />
6310 2q37 deletion syndrome<br />
6311 3 alpha methylcrotonyl-CoA carboxyl<strong>as</strong>e 2 deficiency<br />
6312 3 Methylcrotonyl-CoA carboxyl<strong>as</strong>e 1 deficiency<br />
6313 3 methylglutaconic aciduria type I<br />
6314 3 methylglutaconic aciduria type IV<br />
6315 3 methylglutaconic aciduria type V<br />
6316 3-alpha hydroxyacyl-CoA dehydrogen<strong>as</strong>e deficiency<br />
6317 3-beta-hydroxysteroid dehydrogen<strong>as</strong>e deficiency<br />
6318 3-Hydroxyisobutyric aciduria<br />
6319 3M syndrome<br />
6320 3-methylcrotonyl-CoA carboxyl<strong>as</strong>e deficiency<br />
6321 3-methylglutaconic aciduria type III<br />
6322 3p deletion syndrome<br />
6323 46, XY disorders <strong>of</strong> sexual development<br />
6324 46,XX Gonadal dysgenesis epibulbar dermoid<br />
6325 46,XX testicular disorder <strong>of</strong> sex development<br />
6326 47 XXX syndrome<br />
6327 47, XYY syndrome<br />
6328 48,XXXY syndrome<br />
6329 48,XXYY syndrome<br />
6330 49,XXXXX syndrome<br />
6331 49,XXXXY syndrome<br />
6332 49,XXXYY syndrome
Note:<br />
6333 4-hydroxyphenylacetic aciduria<br />
1. All the data is from online resources <strong>and</strong> to our interpretations. The data is for information.<br />
2. IPR & Regulatory Centre at Pharmexcil is not liable for any discrepancies in the data<br />
provided.<br />
3. The legal status h<strong>as</strong> to be <strong>per</strong>iodically confirmed with country’s regulatory authority.<br />
4. Orphan drug products/Orphan dise<strong>as</strong>es are categorized b<strong>as</strong>ed on country’s designation criteria.