Aliases & Classifications for Aging

MalaCards integrated aliases for Aging:

Name: Aging 56 74

External Ids:

OMIM 56 502000

Summaries for Aging

OMIM : 56 Progressive damage to mitochondrial DNA (mtDNA) during life is thought to contribute to aging processes. This notion is supported by the observation of an aging-related accumulation in human mtDNA of oxidative and alkylation derivatives of nucleotides, of small deletions and insertions, and of large deletions, although their low frequency raises questions about their functional significance (Michikawa et al., 1999). (502000)

MalaCards based summary : Aging is related to premature aging and hutchinson-gilford progeria syndrome. An important gene associated with Aging is BCYRN1 (Brain Cytoplasmic RNA 1), and among its related pathways/superpathways are Endometrial cancer and MAPK signaling pathway. The drugs Midazolam and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and heart, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Senescence (/sɪˈnɛsəns/) or biological aging is the gradual deterioration of functional characteristics.... more...

Related Diseases for Aging

Diseases related to Aging via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 5809, show less)
# Related Disease Score Top Affiliating Genes
1 premature aging 34.0 TP63 PDGFRB LMNA
2 hutchinson-gilford progeria syndrome 32.7 WRN TP53 SIRT3 LMNA
3 atypical werner syndrome 32.6 WRN LMNA
4 huntington disease 31.9 TP53 SOD1 SNCA PPARG AKT1
5 skin carcinoma 31.8 TP53 MAPK1 JUN AKT1
6 osteonecrosis 31.8 SERPINE1 PPARG HIF1A
7 medulloblastoma 31.8 WRN TP53 PDGFRB MAPK1 JUN HIF1A
8 kidney cancer 31.8 TP53 SERPINE1 MAPK1 HIF1A AKT1
9 varicocele 31.8 TP53 SOD1 HIF1A
10 pulmonary fibrosis, idiopathic 31.8 TP53 SERPINE1 MMP7 HIF1A AKT1
11 vascular disease 31.7 TP53 SOD1 SERPINE1 PPARG NAMPT MAPK1
12 osteoporosis 31.7 WRN TP53 SERPINE1 PPARG MAPK1 LMNA
13 acute promyelocytic leukemia 31.6 TP53 SERPINE1 PPARG MAPK1 JUN HIF1A
14 ewing sarcoma 31.6 TP53 PDGFRB MAPK1 HIF1A AKT1
15 kaposi sarcoma 31.6 TP53 MAPK1 JUN HIF1A AKT1
16 leukemia, acute myeloid 31.6 TP53 PDGFRB MAPK1 JUN HIF1A AKT1
17 fibrosarcoma 31.6 TP53 SERPINE1 MAPK1 JUN HIF1A
18 non-alcoholic fatty liver disease 31.6 SIRT3 SERPINE1 PPARG NAMPT JUN AKT1
19 endometrial cancer 31.4 TP53 PPARG MMP7 MAPK1 JUN HIF1A
20 neuroblastoma 31.3 TP53 SOD1 SNCA PPARG PDGFRB MAPK1
21 primary lateral sclerosis, adult, 1 31.3 SOD1 SNCA
22 microvascular complications of diabetes 5 31.3 SOD1 SERPINE1 HIF1A AKT1
23 hypertension, essential 31.1 TP53 SOD1 SIRT3 SERPINE1 PPARG NAMPT
24 alzheimer disease 31.1 TP53 SOD1 SNCA PPARG MAPK1 JUN
25 arteriosclerosis 31.0 SERPINE1 PPARG KL HIF1A
26 retinitis pigmentosa 30.8 TP53 SOD1 SNCA PPARG PDGFRB LMNA
27 peripheral nervous system disease 30.7 TP53 SOD1 SNCA LMNA AKT1
28 sleep apnea 30.7 SERPINE1 PPARG HIF1A
29 wilms tumor 1 30.6 TP63 TP53 KCNQ1DN AKT1
30 pancreatic cancer 30.6 TP53 PPARG PDGFRB MMP7 MAPK1 JUN
31 skin atrophy 30.5 WRN LMNA KL
32 hyperglycemia 30.5 SOD1 SERPINE1 PPARG NAMPT JUN HIF1A
33 overnutrition 30.5 SERPINE1 PPARG NAMPT AKT1
34 diabetes mellitus, noninsulin-dependent 30.5 WRN TP53 SOD1 SNCA SIRT3 SERPINE1
35 myocardial infarction 30.5 WRN TP53 SERPINE1 PPARG MMP7 HIF1A
36 gastric adenocarcinoma 30.4 TP53 PDGFRB MAPK1 JUN HIF1A AKT1
37 tuberous sclerosis 30.4 TP53 PDGFRB MAPK1 AKT1
38 sarcoma 30.4 TP53 PDGFRB MAPK1 JUN HIF1A AKT1
39 cardiovascular system disease 30.3 SOD1 SERPINE1 PPARG NAMPT AKT1
40 body mass index quantitative trait locus 11 30.2 TP53 SIRT3 SERPINE1 PPARG NAMPT LMNA
41 glioblastoma multiforme 30.2 TP53 PPARG PDGFRB MAPK1 JUN HIF1A
42 breast adenocarcinoma 30.2 TP53 SERPINE1 MAPK1 AKT1
43 renal cell carcinoma, nonpapillary 30.2 TP53 SNCA PDGFRB MMP7 JUN HIF1A
44 cholangiocarcinoma 30.2 TP53 MMP7 MAPK1 AKT1
45 cervical cancer 30.1 TP63 TP53 MMP7 MAPK1 JUN HIF1A
46 pneumoconiosis 30.1 SOD1 SERPINE1 JUN
47 diabetes mellitus 30.0 WRN TP53 SOD1 SIRT3 SERPINE1 PPARG
48 breast fibroadenoma 30.0 TP63 TP53 HIF1A
49 bladder urothelial carcinoma 30.0 TP53 SERPINE1 MMP7 HIF1A AKT1
50 estrogen-receptor positive breast cancer 29.9 TP53 HIF1A AKT1
51 skin papilloma 29.9 TP53 JUN AKT1
52 esophageal cancer 29.9 TP63 TP53 PPARG MMP7 MAPK1 JUN
53 gallbladder cancer 29.8 TP53 JUN HIF1A AKT1
54 thyroid gland anaplastic carcinoma 29.8 TP53 PPARG MAPK1 AKT1
55 pancreatic adenocarcinoma 29.7 TP53 PDGFRB MMP7 MAPK1 JUN HIF1A
56 cervical squamous cell carcinoma 29.7 TP63 TP53 HIF1A AKT1
57 ovarian cancer 29.6 TP63 TP53 SERPINE1 PDGFRB MMP7 MAPK1
58 toxic encephalopathy 29.5 SOD1 SNCA AKT1
59 marek disease 29.5 TP53 JUN
60 lung adenoma 29.4 TP53 MAPK1 AKT1
61 thyroid gland follicular carcinoma 29.4 TP53 PPARG AKT1
62 squamous cell carcinoma, head and neck 29.3 TP63 TP53 MAPK1 JUN HIF1A AKT1
63 skin benign neoplasm 29.3 TP63 MAPK1 JUN
64 adenoid cystic carcinoma 29.2 TP63 TP53 MAPK1 HIF1A AKT1
65 lung squamous cell carcinoma 29.2 TP63 TP53 MAPK1 JUN AKT1
66 lung cancer susceptibility 3 29.2 TP63 TP53 PDGFRB MMP7 MAPK1 JUN
67 squamous cell carcinoma 29.0 TP63 TP53 MMP7 MAPK1 HIF1A BCYRN1
68 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 29.0 TP63 TP53 SNCA
69 parotid gland cancer 28.5 TP53 BCYRN1
70 macular degeneration, age-related, 1 12.8
71 macular degeneration, age-related, 13 12.6
72 macular degeneration, age-related, 7 12.6
73 macular degeneration, age-related, 2 12.6
74 premature aging syndrome, penttinen type 12.5
75 neuropathy, hereditary, with or without age-related macular degeneration 12.5
76 macular degeneration, age-related, 9 12.5
77 macular degeneration, age-related, 5 12.5
78 macular degeneration, age-related, 8 12.5
79 macular degeneration, age-related, 4 12.5
80 macular degeneration, age-related, 14 12.5
81 macular degeneration, age-related, 6 12.5
82 age-related hearing loss 12.5
83 macular degeneration, age-related, 12 12.5
84 macular degeneration, age-related, 10 12.5
85 macular degeneration, age-related, 11 12.5
86 macular degeneration, age-related, 15 12.5
87 age-related hearing impairment 1 12.4
88 age-related hearing impairment 2 12.4
89 skeletal dysplasia, mild, with joint laxity and advanced bone age 12.4
90 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.3
91 menarche, age at, quantitative trait locus 1 12.3
92 menopause, natural, age at, quantitative trait locus 1 12.3
93 menopause, natural, age at, quantitative trait locus 2 12.3
94 menopause, natural, age at, quantitative trait locus 4 12.3
95 premature aging syndrome, okamoto type 12.3
96 cataract, age-related nuclear 12.2
97 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 12.2
98 menarche, age at, quantitative trait locus 2 12.2
99 menarche, age at, quantitative trait locus 3 12.2
100 creases, infra-auricular cutaneous, with tall stature and advanced bone age 12.2
101 dwarfism lethal type advanced bone age 12.1
102 gigantism advanced bone age hoarse cry 12.1
103 marfanoid habitus-inguinal hernia-advanced bone age syndrome 12.1
104 laminopathy with premature aging 12.1
105 cataract 28 12.0
106 cataract 6, multiple types 12.0
107 werner syndrome 11.9
108 ceroid lipofuscinosis, neuronal, 2 11.9
109 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 11.9
110 ceroid lipofuscinosis, neuronal, 5 11.9
111 parkinson disease, late-onset 11.9
112 aicardi-goutieres syndrome 1 11.8
113 floating-harbor syndrome 11.8
114 ceroid lipofuscinosis, neuronal, 1 11.8
115 aicardi-goutieres syndrome 11.8
116 kuhnt-junius degeneration 11.7
117 febrile infection-related epilepsy syndrome 11.7
118 fontaine progeroid syndrome 11.7
119 ceroid lipofuscinosis, neuronal, 6 11.7
120 branchiooculofacial syndrome 11.7
121 bullous pemphigoid 11.7
122 parkinson disease 10 11.5
123 gait ataxia with late onset polyneuropathy syndrome 11.5
124 ogden syndrome 11.5
125 dementia 11.4
126 cataract 11.4
127 encephalopathy 11.4
128 kennerknecht syndrome 11.4
129 megarbane syndrome 11.4
130 muscular dystrophy, duchenne type 11.4
131 li-fraumeni syndrome 11.3
132 premature ovarian failure 1 11.3
133 spinal muscular atrophy 11.3
134 nephronophthisis 11.3
135 attention deficit-hyperactivity disorder 11.3
136 autism spectrum disorder 11.3
137 muscular dystrophy 11.3
138 tay-sachs disease 11.3
139 down syndrome 11.3
140 tremor 11.3
141 osteoarthritis 11.2
142 cerebral palsy 11.2
143 hemochromatosis, type 1 11.2
144 breast cancer 11.2
145 glycogen storage disease ii 11.2
146 rett syndrome 11.2
147 depression 11.2
148 autism 11.2
149 friedreich ataxia 11.2
150 myositis 11.2
151 traumatic brain injury 11.2
152 fucosidosis 11.2
153 cytomegalovirus infection 11.2
154 intraocular pressure quantitative trait locus 11.2
155 multiple sclerosis 11.2
156 nijmegen breakage syndrome 11.2
157 spinal muscular atrophy, type i 11.2
158 lennox-gastaut syndrome 11.2
159 herpes zoster 11.2
160 xeroderma pigmentosum, variant type 11.2
161 sleep disorder 11.2
162 schizophrenia 11.2
163 retinoblastoma 11.2
164 alpha-1-antitrypsin deficiency 11.2
165 cystinosis 11.2
166 cockayne syndrome 11.2
167 epileptic encephalopathy, early infantile, 6 11.2
168 dermatitis, atopic 11.2
169 metachromatic leukodystrophy 11.2
170 restless legs syndrome 11.2
171 krabbe disease 11.2
172 legg-calve-perthes disease 11.2
173 ulcerative colitis 11.2
174 precocious puberty 11.2
175 refractive error 11.2
176 alexander disease 11.2
177 vitiligo-associated multiple autoimmune disease susceptibility 1 11.2
178 hydrocephalus 11.2
179 infertility 11.2
180 caffey disease 11.2
181 dystonia, dopa-responsive 11.2
182 insulin-like growth factor i 11.2
183 prostate cancer 11.1
184 langerhans cell histiocytosis 11.1
185 febrile seizures 11.1
186 rickets 11.1
187 gaucher disease, type i 11.1
188 adrenoleukodystrophy 11.1
189 ataxia-telangiectasia 11.1
190 exfoliation syndrome 11.1
191 niemann-pick disease 11.1
192 dentatorubral-pallidoluysian atrophy 11.1
193 essential tremor 11.1
194 diabetes mellitus, type i 11.1
195 usher syndrome 11.1
196 childhood absence epilepsy 11.1
197 lymphoma, hodgkin, classic 11.1
198 atherosclerosis susceptibility 11.1
199 myelofibrosis 11.1
200 familial adenomatous polyposis 11.1
201 albinism, oculocutaneous, type ii 11.1
202 desbuquois dysplasia 1 11.1
203 hurler syndrome 11.1
204 diarrhea 11.1
205 neurofibromatosis, type ii 11.1
206 amyotrophic lateral sclerosis 1 11.1
207 wiedemann-rautenstrauch syndrome 11.1
208 gm1 gangliosidosis 11.1
209 rheumatoid arthritis 11.1
210 central precocious puberty 11.1
211 ceroid lipofuscinosis, neuronal, 3 11.1
212 aspartylglucosaminuria 11.1
213 impotence 11.1
214 prostatic hyperplasia, benign 11.1
215 crohn's disease 11.1
216 polycystic ovary syndrome 11.1
217 polymyositis 11.1
218 obsessive-compulsive disorder 11.1
219 sudden infant death syndrome 11.1
220 pulmonary disease, chronic obstructive 11.1
221 kearns-sayre syndrome 11.1
222 pertussis 11.1
223 celiac disease 1 11.1
224 pulmonary embolism 11.1
225 li-fraumeni syndrome 2 11.1
226 hyperthyroidism 11.1
227 early-onset, autosomal dominant alzheimer disease 11.1
228 cyanosis, transient neonatal 11.1
229 retinal detachment 11.1
230 colorectal cancer 11.1
231 muscular dystrophy, becker type 11.1
232 diphtheria 11.1
233 pneumonia 11.1
234 angelman syndrome 11.1
235 kawasaki disease 11.1
236 graves' disease 11.1
237 mucopolysaccharidosis, type ii 11.1
238 thyroid cancer, nonmedullary, 1 11.1
239 myasthenia gravis 11.1
240 juvenile rheumatoid arthritis 11.1
241 epilepsy 11.1
242 mccune-albright syndrome 11.1
243 sotos syndrome 1 11.1
244 pilomatrixoma 11.1
245 oculopharyngeal muscular dystrophy 11.1
246 pseudo-torch syndrome 1 11.1
247 bronchiolitis 11.1
248 juvenile absence epilepsy 11.1
249 retinal degeneration 11.1
250 myopia 11.1
251 mismatch repair cancer syndrome 11.1
252 learning disability 11.1
253 hyperkalemic periodic paralysis 11.1
254 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 11.1
255 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.1
256 hypoalphalipoproteinemia, primary, 1 11.1
257 blepharospasm, benign essential 11.1
258 supranuclear palsy, progressive, 1 11.1
259 episodic kinesigenic dyskinesia 1 11.1
260 mirror movements 1 11.1
261 precocious puberty, central, 1 11.1
262 basal ganglia calcification, idiopathic, 1 11.1
263 pulmonary alveolar microlithiasis 11.1
264 sandhoff disease 11.1
265 spinal and bulbar muscular atrophy, x-linked 1 11.1
266 cerebral cavernous malformation, familial 11.1
267 myeloma, multiple 11.1
268 bipolar disorder 11.1
269 disease of mental health 11.1
270 polycystic kidney disease 11.1
271 granddad syndrome 11.1
272 thyroid hormone metabolism, abnormal 11.1
273 vagneur triolle ripert syndrome 11.1
274 vascular dementia 11.1
275 psoriasis 11.1
276 west syndrome 11.1
277 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 11.1
278 gingival recession 11.1
279 gastric cancer 11.1
280 sickle cell disease 11.1
281 trigeminal neuralgia 11.1
282 autoimmune hepatitis 11.1
283 aortic aneurysm, familial abdominal, 1 11.1
284 osteogenic sarcoma 11.1
285 presbyopia 11.0
286 dementia, lewy body 11.0
287 thyroid carcinoma 11.0
288 osteochondritis dissecans 11.0
289 hemolytic uremic syndrome, atypical 1 11.0
290 cluster headache 11.0
291 breast-ovarian cancer, familial 2 11.0
292 fatty liver disease 11.0
293 bronchopulmonary dysplasia 11.0
294 lichen sclerosus et atrophicus 11.0
295 niemann-pick disease, type c1 11.0
296 pedophilia 11.0
297 acute cystitis 11.0
298 neurofibromatosis 11.0
299 chordoma 11.0
300 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 11.0
301 transverse myelitis 11.0
302 subcortical arteriosclerotic encephalopathy 11.0
303 cystic kidney disease 11.0
304 oral cancer 11.0
305 charcot-marie-tooth disease, demyelinating, type 1a 11.0
306 corneal dystrophy, epithelial basement membrane 11.0
307 noonan syndrome 1 11.0
308 wilson disease 11.0
309 menkes disease 11.0
310 cyclic vomiting syndrome 11.0
311 limb-girdle muscular dystrophy 11.0
312 glaucoma 1, open angle, a 11.0
313 polycystic kidney disease 1 with or without polycystic liver disease 11.0
314 arterial tortuosity syndrome 11.0
315 niemann-pick disease, type c2 11.0
316 granulomatosis with polyangiitis 11.0
317 desmoid tumor 11.0
318 mood disorder 11.0
319 chickenpox 11.0
320 pervasive developmental disorder 11.0
321 senile cataract 11.0
322 lynch syndrome i 11.0
323 pseudoachondroplasia 11.0
324 avascular necrosis of femoral head, primary, 1 11.0
325 carpal tunnel syndrome 11.0
326 peripheral vascular disease 11.0
327 leptin deficiency or dysfunction 11.0
328 hypertriglyceridemia, familial 11.0
329 scoliosis 11.0
330 sarcoidosis 1 11.0
331 fragile x syndrome 11.0
332 tonsillitis 11.0
333 neuropathy, hereditary sensory and autonomic, type iii 11.0
334 convulsions, familial infantile, with paroxysmal choreoathetosis 11.0
335 neurodegeneration with brain iron accumulation 3 11.0
336 postural orthostatic tachycardia syndrome 11.0
337 landau-kleffner syndrome 11.0
338 juvenile amyotrophic lateral sclerosis 11.0
339 prostate disease 11.0
340 migraine with or without aura 1 11.0
341 leukemia, chronic lymphocytic 11.0
342 chagas disease 11.0
343 acromegaly 11.0
344 maturity-onset diabetes of the young, type 2 11.0
345 dystonia 1, torsion, autosomal dominant 11.0
346 myhre syndrome 11.0
347 kleine-levin hibernation syndrome 11.0
348 hereditary leiomyomatosis and renal cell cancer 11.0
349 cowden syndrome 1 11.0
350 mitochondrial dna depletion syndrome 4a 11.0
351 choroidal dystrophy, central areolar, 1 11.0
352 geroderma osteodysplasticum 11.0
353 glycogen storage disease ia 11.0
354 mannosidosis, alpha b, lysosomal 11.0
355 spinal muscular atrophy, type ii 11.0
356 short syndrome 11.0
357 mitochondrial dna depletion syndrome 7 11.0
358 mental retardation, x-linked, syndromic, turner type 11.0
359 cardiomyopathy, infantile histiocytoid 11.0
360 breast-ovarian cancer, familial 1 11.0
361 spastic paraplegia 31, autosomal dominant 11.0
362 nestor-guillermo progeria syndrome 11.0
363 cogan-reese syndrome 11.0
364 infantile myofibromatosis 11.0
365 adult polyglucosan body disease 11.0
366 autosomal dominant tubulointerstitial kidney disease 11.0
367 specific antibody deficiency 11.0
368 aneurysm 11.0
369 juvenile arthritis 11.0
370 stroke, ischemic 11.0
371 pulmonary hypertension, primary, 1 11.0
372 temporal arteritis 11.0
373 anencephaly 11.0
374 autosomal dominant cerebellar ataxia 11.0
375 motor neuron disease 11.0
376 leukemia, acute lymphoblastic 11.0
377 creutzfeldt-jakob disease 11.0
378 wilms tumor 5 11.0
379 narcolepsy 11.0
380 von willebrand's disease 11.0
381 syncope 11.0
382 hernia, hiatus 11.0
383 polycythemia vera 11.0
384 aortic aneurysm 11.0
385 cleft lip/palate 11.0
386 nephrolithiasis, calcium oxalate 11.0
387 hepatocellular carcinoma 11.0
388 hepatitis b 11.0
389 williams-beuren syndrome 11.0
390 psoriatic arthritis 11.0
391 inclusion body myositis 11.0
392 maturity-onset diabetes of the young 11.0
393 gestational trophoblastic neoplasm 11.0
394 craniopharyngioma 11.0
395 pemphigus 11.0
396 asthma 11.0
397 raynaud phenomenon 11.0
398 bone disease 11.0
399 leiomyoma, uterine 11.0
400 patent ductus arteriosus 1 11.0
401 trichothiodystrophy 11.0
402 myelodysplastic syndrome 11.0
403 silver-russell syndrome 1 11.0
404 asperger syndrome 11.0
405 pick disease of brain 11.0
406 optic neuritis 11.0
407 gilles de la tourette syndrome 11.0
408 respiratory distress syndrome in premature infants 11.0
409 brugada syndrome 11.0
410 glycogen storage disease 11.0
411 systemic lupus erythematosus 11.0
412 amyloidosis, hereditary, transthyretin-related 11.0
413 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 11.0
414 multiple system atrophy 1 11.0
415 esophagitis, eosinophilic, 1 11.0
416 charcot-marie-tooth disease 11.0
417 marasmus 11.0
418 rothmund-thomson syndrome, type 2 11.0
419 neuronal ceroid lipofuscinosis 11.0
420 corticobasal degeneration 11.0
421 fragile x tremor/ataxia syndrome 11.0
422 melanoma 11.0
423 bone cancer 11.0
424 seborrheic dermatitis 11.0
425 amenorrhea 11.0
426 cerebral amyloid angiopathy, cst3-related 11.0
427 endometriosis 11.0
428 alkaptonuria 11.0
429 fragile x-associated tremor/ataxia syndrome 11.0
430 horner's syndrome 11.0
431 autosomal dominant polycystic kidney disease 11.0
432 pure autonomic failure 11.0
433 sjogren syndrome 11.0
434 vaginal cancer 11.0
435 lymphangioma 11.0
436 ruijs-aalfs syndrome 11.0
437 coronary artery dissection, spontaneous 10.9
438 epilepsy, myoclonic juvenile 10.9
439 cervical dystonia 10.9
440 paroxysmal nocturnal hemoglobinuria 10.9
441 conduct disorder 10.9
442 doyne honeycomb retinal dystrophy 10.9
443 xeroderma pigmentosum, complementation group a 10.9
444 wolfram syndrome 10.9
445 gangliocytoma 10.9
446 albinism 10.9
447 gigantism 10.9
448 beckwith-wiedemann syndrome 10.9
449 benign epilepsy with centrotemporal spikes 10.9
450 dysgraphia 10.9
451 inflammatory breast carcinoma 10.9
452 leprosy 3 10.9
453 fibromuscular dysplasia 10.9
454 osteoid osteoma 10.9
455 acquired hemophilia 10.9
456 lynch syndrome 10.9
457 arthritis 10.9
458 post-traumatic stress disorder 10.9
459 cleidocranial dysplasia 10.9
460 sturge-weber syndrome 10.9
461 acrogeria, gottron type 10.9
462 hypothyroidism, congenital, nongoitrous, 2 10.9
463 myoclonic epilepsy of lafora 10.9
464 leigh syndrome 10.9
465 xfe progeroid syndrome 10.9
466 isolated ectopia lentis 10.9
467 reye syndrome 10.9
468 bap1 tumor predisposition syndrome 10.9
469 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 10.9
470 erythrokeratoderma ''en cocardes'' 10.9
471 central cord syndrome 10.9
472 diffuse large b-cell lymphoma 10.9
473 gout 10.9
474 gallbladder disease 1 10.9
475 familial adenomatous polyposis 1 10.9
476 psoriasis 1 10.9
477 cockayne syndrome a 10.9
478 mitochondrial complex iv deficiency 10.9
479 diastrophic dysplasia 10.9
480 factor vii deficiency 10.9
481 neurodegeneration with brain iron accumulation 2a 10.9
482 premature ovarian failure 10 10.9
483 blount's disease 10.9
484 atypical teratoid rhabdoid tumor 10.9
485 bartter disease 10.9
486 anaplastic ependymoma 10.9
487 systemic onset juvenile idiopathic arthritis 10.9
488 cytogenetically normal acute myeloid leukemia 10.9
489 juvenile polyposis syndrome 10.9
490 spinal muscular atrophy, type iii 10.9
491 lymphoma, non-hodgkin, familial 10.9
492 erythermalgia, primary 10.9
493 gastric cancer, hereditary diffuse 10.9
494 hyperparathyroidism 1 10.9
495 hypogonadotropic hypogonadism 7 with or without anosmia 10.9
496 choreoacanthocytosis 10.9
497 central hypoventilation syndrome, congenital 10.9
498 mannosidosis, beta a, lysosomal 10.9
499 mucopolysaccharidosis, type vi 10.9
500 isolated growth hormone deficiency, type ia 10.9
501 myoclonic epilepsy associated with ragged-red fibers 10.9
502 ossification of the posterior longitudinal ligament of spine 10.9
503 encephalopathy, familial, with neuroserpin inclusion bodies 10.9
504 seizures, benign familial infantile, 3 10.9
505 legionnaire disease 10.9
506 colorectal cancer, hereditary nonpolyposis, type 2 10.9
507 myxoid liposarcoma 10.9
508 stickler syndrome 10.9
509 neurodegeneration with brain iron accumulation 10.9
510 congenital dyserythropoietic anemia 10.9
511 hairy tongue 10.9
512 congenital myasthenic syndrome 10.9
513 cowden syndrome 10.9
514 spastic paraplegia 3a 10.9
515 acquired hemophilia a 10.9
516 central congenital hypothyroidism 10.9
517 collagenous gastritis 10.9
518 new-onset refractory status epilepticus 10.9
519 retroperitoneal fibrosis 10.9
520 early-onset glaucoma 10.9
521 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.9
522 vasculitis 10.9
523 acrodysostosis 1 with or without hormone resistance 10.9
524 cherubism 10.9
525 coumarin resistance 10.9
526 periodic fever, familial, autosomal dominant 10.9
527 otosclerosis 1 10.9
528 pancreatitis, hereditary 10.9
529 hypokalemic periodic paralysis, type 1 10.9
530 pityriasis rubra pilaris 10.9
531 alpha-methylacetoacetic aciduria 10.9
532 argininemia 10.9
533 fazio-londe disease 10.9
534 corneal endothelial dystrophy 10.9
535 cutis laxa, autosomal recessive, type ia 10.9
536 mucolipidosis iii alpha/beta 10.9
537 mucopolysaccharidosis, type iva 10.9
538 myoclonic epilepsy of unverricht and lundborg 10.9
539 neuraminidase deficiency 10.9
540 gyrate atrophy of choroid and retina 10.9
541 polyglucosan body neuropathy, adult form 10.9
542 pulmonary arteriovenous fistulas 10.9
543 usher syndrome, type i 10.9
544 lysosomal acid lipase deficiency 10.9
545 short stature, idiopathic, x-linked 10.9
546 barth syndrome 10.9
547 ichthyosis, x-linked 10.9
548 malignant atrophic papulosis 10.9
549 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.9
550 neurodegeneration due to cerebral folate transport deficiency 10.9
551 antithrombin iii deficiency 10.9
552 autism 18 10.9
553 perrault syndrome 10.9
554 intestinal pseudo-obstruction 10.9
555 acquired von willebrand syndrome 10.9
556 expressive language disorder 10.9
557 benign neonatal seizures 10.9
558 syringoma 10.9
559 gastric antral vascular ectasia 10.9
560 thoracic outlet syndrome 10.9
561 nemaline myopathy 10.9
562 mixed connective tissue disease 10.9
563 apocrine adenocarcinoma 10.9
564 adenosarcoma of the uterus 10.9
565 cytomegalic inclusion disease 10.9
566 freiberg's disease 10.9
567 hemorrhagic shock and encephalopathy syndrome 10.9
568 iridocorneal endothelial syndrome 10.9
569 necrotizing autoimmune myopathy 10.9
570 nodding syndrome 10.9
571 pityriasis lichenoides et varioliformis acuta 10.9
572 reducing body myopathy 10.9
573 susac syndrome 10.9
574 epilepsy with myoclonic absences 10.9
575 turner syndrome 10.9
576 dilated cardiomyopathy 10.9
577 dystonia 10.9
578 heart valve disease 10.9
579 rhabdomyosarcoma 10.9
580 bilirubin metabolic disorder 10.9
581 fibromyalgia 10.9
582 fetal alcohol syndrome 10.9
583 non-alcoholic steatohepatitis 10.9
584 rheumatic fever 10.9
585 developmental coordination disorder 10.9
586 uncombable hair syndrome 1 10.9
587 microcephaly 10.9
588 mitochondrial disorders 10.9
589 binswanger's disease 10.9
590 periodontal ehlers-danlos syndrome 10.9
591 leukemia, chronic myeloid 10.9
592 spinal meningioma 10.9
593 premature menopause 10.9
594 craniosynostosis 10.9
595 nasopharyngeal carcinoma 10.9
596 breast disease 10.9
597 gastrointestinal stromal tumor 10.9
598 myotonic dystrophy 10.9
599 sickle cell anemia 10.9
600 spondylosis 10.9
601 progeroid syndrome 10.9
602 testicular cancer 10.9
603 prader-willi syndrome 10.9
604 lipoid congenital adrenal hyperplasia 10.9
605 beta-thalassemia 10.9
606 sick sinus syndrome 10.9
607 pfeiffer syndrome 10.9
608 vaginitis 10.9
609 dengue virus 10.9
610 combined oxidative phosphorylation deficiency 12 10.9
611 cerebral atherosclerosis 10.9
612 achalasia 10.9
613 familial hypercholesterolemia 10.9
614 microvascular complications of diabetes 1 10.9
615 guillain-barre syndrome 10.9
616 stargardt disease 10.9
617 childhood leukemia 10.9
618 farsightedness 10.9
619 cerebral aneurysms 10.9
620 vitreoretinopathy, neovascular inflammatory 10.9
621 primary biliary cirrhosis 10.9
622 intracranial hypertension 10.9
623 barrett esophagus 10.9
624 pyloric stenosis 10.9
625 machado-joseph disease 10.9
626 normal pressure hydrocephalus 10.9
627 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.9
628 hypogonadotropic hypogonadism 10.9
629 iga glomerulonephritis 10.9
630 mammary paget's disease 10.9
631 optic atrophy 1 10.9
632 follicular lymphoma 10.9
633 intracranial aneurysm 10.9
634 testicular disease 10.9
635 wolff-parkinson-white syndrome 10.9
636 disseminated intravascular coagulation 10.9
637 hydrocele 10.9
638 pneumothorax, primary spontaneous 10.9
639 moyamoya disease 1 10.8
640 dengue disease 10.8
641 body mass index quantitative trait locus 1 10.8
642 ascaris lumbricoides infection 10.8
643 separation anxiety disorder 10.8
644 dyskeratosis congenita 10.8
645 antiphospholipid syndrome 10.8
646 scarlet fever 10.8
647 membranous nephropathy 10.8
648 arcus corneae 10.8
649 bronchiolitis obliterans 10.8
650 alopecia areata 10.8
651 fetal macrosomia 10.8
652 blau syndrome 10.8
653 arthropathy, progressive pseudorheumatoid, of childhood 10.8
654 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.8
655 hypercholesterolemia, familial, 3 10.8
656 generalized epilepsy with febrile seizures plus, type 1 10.8
657 telangiectasia, hereditary hemorrhagic, type 4 10.8
658 werdnig-hoffman disease 10.8
659 arachnoid cysts, intracranial 10.8
660 congenital toxoplasmosis 10.8
661 arteriosclerosis obliterans 10.8
662 croup 10.8
663 mycosis fungoides 10.8
664 sarcoma, synovial 10.8
665 aortic aneurysm, familial thoracic 1 10.8
666 pulmonary hypertension, primary, 3 10.8
667 microphthalmia 10.8
668 infant gynecomastia 10.8
669 diencephalic syndrome 10.8
670 fainting 10.8
671 chondrosarcoma 10.8
672 galactosemia i 10.8
673 listeriosis 10.8
674 early myoclonic encephalopathy 10.8
675 neuromyelitis optica 10.8
676 polyarteritis nodosa 10.8
677 meningococcal infection 10.8
678 endosteal hyperostosis, autosomal dominant 10.8
679 thyroid cancer, nonmedullary, 2 10.8
680 cholangitis, primary sclerosing 10.8
681 common variable immunodeficiency 10.8
682 fibromatosis 10.8
683 abdominal obesity-metabolic syndrome 1 10.8
684 sialadenitis 10.8
685 bell's palsy 10.8
686 primary central nervous system lymphoma 10.8
687 hirschsprung disease 1 10.8
688 subacute sclerosing panencephalitis 10.8
689 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.8
690 postpoliomyelitis syndrome 10.8
691 aortitis 10.8
692 progressive multifocal leukoencephalopathy 10.8
693 triploidy 10.8
694 bloom syndrome 10.8
695 osteopetrosis 10.8
696 cutis laxa 10.8
697 nutritional deficiency disease 10.8
698 impetigo 10.8
699 hemorrhoid 10.8
700 dystrophinopathies 10.8
701 familial mediterranean fever 10.8
702 entropion 10.8
703 mature cataract 10.8
704 thrombocytopenia due to platelet alloimmunization 10.8
705 embryonal rhabdomyosarcoma 10.8
706 cystinuria 10.8
707 transient erythroblastopenia of childhood 10.8
708 fanconi anemia, complementation group a 10.8
709 testicular germ cell tumor 10.8
710 kernicterus 10.8
711 best vitelliform macular dystrophy 10.8
712 keratosis, seborrheic 10.8
713 renal hypodysplasia/aplasia 1 10.8
714 rhabdoid tumor predisposition syndrome 1 10.8
715 frozen shoulder 10.8
716 paget's disease of bone 10.8
717 multifocal choroiditis 10.8
718 osteochondroma 10.8
719 pemphigus vulgaris, familial 10.8
720 schopf-schulz-passarge syndrome 10.8
721 vitelliform macular dystrophy 10.8
722 atypical autism 10.8
723 lipoid nephrosis 10.8
724 neurodermatitis 10.8
725 protein c deficiency 10.8
726 blepharospasm 10.8
727 dense deposit disease 10.8
728 sudden sensorineural hearing loss 10.8
729 corneal dystrophy, fuchs endothelial, 1 10.8
730 abetalipoproteinemia 10.8
731 alstrom syndrome 10.8
732 multiple acyl-coa dehydrogenase deficiency 10.8
733 mandibuloacral dysplasia with type a lipodystrophy 10.8
734 scheie syndrome 10.8
735 brachydactyly 10.8
736 early-onset parkinson's disease 10.8
737 prediabetes syndrome 10.8
738 conn's syndrome 10.8
739 chronic progressive external ophthalmoplegia 10.8
740 hereditary angioedema 10.8
741 familial nephrotic syndrome 10.8
742 chronic wasting disease 10.8
743 plasmacytoma 10.8
744 merkel cell carcinoma 10.8
745 rosacea 10.8
746 childhood-onset schizophrenia 10.8
747 basal cell nevus syndrome 10.8
748 longevity 1 10.8
749 endocardial fibroelastosis 10.8
750 stargardt disease 1 10.8
751 shwachman-diamond syndrome 1 10.8
752 parkinson disease 3, autosomal dominant 10.8
753 dermatofibrosarcoma protuberans 10.8
754 exanthema subitum 10.8
755 ameloblastoma 10.8
756 childhood type dermatomyositis 10.8
757 embryonal carcinoma 10.8
758 granuloma annulare 10.8
759 carcinosarcoma 10.8
760 fibrillary astrocytoma 10.8
761 anaplastic oligoastrocytoma 10.8
762 superficial spreading melanoma 10.8
763 testicular seminoma 10.8
764 shaken baby syndrome 10.8
765 hypertension and brachydactyly syndrome 10.8
766 gm1-gangliosidosis, type ii 10.8
767 gapo syndrome 10.8
768 gaucher disease, type ii 10.8
769 generalized epilepsy with febrile seizures plus, type 2 10.8
770 febrile seizures, familial, 8 10.8
771 generalized epilepsy with febrile seizures plus, type 7 10.8
772 episodic ataxia 10.8
773 arteriovenous malformations of the brain 10.8
774 immunoglobulin a deficiency 1 10.8
775 hyperlipidemia, familial combined, 3 10.8
776 macular dystrophy, vitelliform, 2 10.8
777 hemifacial microsomia 10.8
778 chediak-higashi syndrome 10.8
779 leukoencephalopathy, hereditary diffuse, with spheroids 10.8
780 galactorrhea 10.8
781 neuroblastoma 1 10.8
782 xeroderma pigmentosum, complementation group f 10.8
783 choroideremia 10.8
784 diabetes and deafness, maternally inherited 10.8
785 growth hormone insensitivity, partial 10.8
786 epilepsy, juvenile absence 1 10.8
787 muscular dystrophy, congenital, lmna-related 10.8
788 pulmonary hypertension, primary, 2 10.8
789 neuronal ceroid-lipofuscinoses 10.8
790 primary congenital glaucoma 10.8
791 intrahepatic cholestasis of pregnancy 10.8
792 fuchs' endothelial dystrophy 10.8
793 adult-onset still's disease 10.8
794 systemic mastocytosis 10.8
795 olfactory neuroblastoma 10.8
796 hydranencephaly 10.8
797 progressive myoclonus epilepsy 10.8
798 heavy metal poisoning 10.8
799 juvenile huntington disease 10.8
800 lentigo maligna melanoma 10.8
801 perniosis 10.8
802 dementia - subcortical 10.8
803 hemifacial spasm 10.8
804 alzheimer disease 2 10.8
805 multiple endocrine neoplasia, type i 10.8
806 epicanthus 10.8
807 sorsby fundus dystrophy 10.8
808 klippel-trenaunay-weber syndrome 10.8
809 facioscapulohumeral muscular dystrophy 1 10.8
810 benign chronic pemphigus 10.8
811 raynaud disease 10.8
812 lysinuric protein intolerance 10.8
813 nephronophthisis 1 10.8
814 maturity-onset diabetes of the young, type 3 10.8
815 hemochromatosis, type 2a 10.8
816 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 10.8
817 psoriasis 14, pustular 10.8
818 atrial fibrillation, familial, 15 10.8
819 t-cell lymphoma, subcutaneous panniculitis-like 10.8
820 cone dystrophy 10.8
821 biotin deficiency 10.8
822 left ventricular noncompaction 10.8
823 hemochromatosis type 2 10.8
824 juvenile glaucoma 10.8
825 acrodysostosis 10.8
826 endodermal sinus tumor 10.8
827 protein s deficiency 10.8
828 capillary hemangioma 10.8
829 hemangioblastoma 10.8
830 malignant teratoma 10.8
831 acth-secreting pituitary adenoma 10.8
832 brachial plexus lesion 10.8
833 localized scleroderma 10.8
834 erythema infectiosum 10.8
835 muscular dystrophy, duchenne and becker type 10.8
836 congenital hypopituitarism 10.8
837 fetal methylmercury syndrome 10.8
838 hemimegalencephaly 10.8
839 macular telangiectasia type 2 10.8
840 microscopic polyangiitis 10.8
841 oligoastrocytoma 10.8
842 pediatric acute-onset neuropsychiatric syndrome 10.8
843 reversible cerebral vasoconstriction syndrome 10.8
844 nonsyndromic hearing loss 10.8
845 intracranial cysts 10.8
846 paraneoplastic syndromes 10.8
847 epiblepharon 10.8
848 centralopathic epilepsy 10.8
849 blepharophimosis, ptosis, and epicanthus inversus 10.8
850 hyperaldosteronism, familial, type i 10.8
851 cockayne syndrome b 10.8
852 macular dystrophy, retinal, 1, north carolina type 10.8
853 spinocerebellar ataxia 7 10.8
854 periodontitis, aggressive, 1 10.8
855 progeroid short stature with pigmented nevi 10.8
856 wolf-hirschhorn syndrome 10.8
857 corpus callosum, agenesis of 10.8
858 factor v deficiency 10.8
859 galactosemia ii 10.8
860 hallermann-streiff syndrome 10.8
861 mowat-wilson syndrome 10.8
862 intracranial hypertension, idiopathic 10.8
863 polycystic kidney disease 4 with or without polycystic liver disease 10.8
864 gitelman syndrome 10.8
865 orofaciodigital syndrome viii 10.8
866 mcleod syndrome 10.8
867 wiskott-aldrich syndrome 10.8
868 ornithine transcarbamylase deficiency, hyperammonemia due to 10.8
869 pelizaeus-merzbacher disease 10.8
870 androgen insensitivity, partial 10.8
871 hyperferritinemia with or without cataract 10.8
872 lymphangioleiomyomatosis 10.8
873 spinocerebellar ataxia 17 10.8
874 telomere length, mean leukocyte 10.8
875 premature ovarian failure 7 10.8
876 aromatase deficiency 10.8
877 acatalasemia 10.8
878 chronic atrial and intestinal dysrhythmia 10.8
879 seizures, scoliosis, and macrocephaly/microcephaly syndrome 10.8
880 kashin-beck disease 10.8
881 cryptogenic organizing pneumonia 10.8
882 short qt syndrome 10.8
883 inflammatory myofibroblastic tumor 10.8
884 generalized epilepsy with febrile seizures plus 10.8
885 collagenous colitis 10.8
886 transient neonatal diabetes mellitus 10.8
887 familial glucocorticoid deficiency 10.8
888 alcoholic cardiomyopathy 10.8
889 miliaria 10.8
890 nuclear senile cataract 10.8
891 methylmalonic acidemia 10.8
892 ocular melanoma 10.8
893 sertoli-leydig cell tumor 10.8
894 glycoproteinosis 10.8
895 ectomesenchymoma 10.8
896 dentinogenesis imperfecta 10.8
897 epidermolysis bullosa simplex 10.8
898 ependymoblastoma 10.8
899 eosinophilic pneumonia 10.8
900 waardenburg's syndrome 10.8
901 tyrosinemia 10.8
902 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.8
903 desmoplastic infantile ganglioglioma 10.8
904 distal renal tubular acidosis 10.8
905 hemicrania continua 10.8
906 hydroa vacciniforme 10.8
907 metatarsus adductus 10.8
908 ring chromosome 6 10.8
909 temporomandibular ankylosis 10.8
910 vernal keratoconjunctivitis 10.8
911 spinocerebellar degeneration 10.8
912 transient bullous dermolysis of the newborn 10.8
913 multiple self-healing squamous epithelioma 10.8
914 hyperpigmentation with or without hypopigmentation, familial progressive 10.8
915 hypophosphatasia, adult 10.8
916 laryngeal web, familial 10.8
917 lipomatosis, multiple symmetric 10.8
918 melkersson-rosenthal syndrome 10.8
919 nevus, epidermal 10.8
920 oculodentodigital dysplasia 10.8
921 panic disorder 1 10.8
922 protoporphyria, erythropoietic, 1 10.8
923 pulmonary hemosiderosis 10.8
924 vertical talus, congenital 10.8
925 cerebrooculofacioskeletal syndrome 1 10.8
926 cutis marmorata telangiectatica congenita 10.8
927 trichohepatoenteric syndrome 1 10.8
928 diastematomyelia 10.8
929 hartnup disorder 10.8
930 van buchem disease 10.8
931 donohue syndrome 10.8
932 diarrhea 2, with microvillus atrophy 10.8
933 mucolipidosis iii gamma 10.8
934 mucopolysaccharidosis, type vii 10.8
935 muscular dystrophy-dystroglycanopathy , type a, 4 10.8
936 intrinsic factor deficiency 10.8
937 alveolar capillary dysplasia with misalignment of pulmonary veins 10.8
938 pycnodysostosis 10.8
939 hemophagocytic lymphohistiocytosis, familial, 1 10.8
940 sjogren-larsson syndrome 10.8
941 canavan disease 10.8
942 glanzmann thrombasthenia 10.8
943 thrombotic thrombocytopenic purpura, hereditary 10.8
944 mayer-rokitansky-kuster-hauser syndrome 10.8
945 xeroderma pigmentosum, complementation group g 10.8
946 cerebral creatine deficiency syndrome 1 10.8
947 anemia, sideroblastic, 1 10.8
948 agammaglobulinemia, x-linked 10.8
949 coffin-lowry syndrome 10.8
950 glycerol kinase deficiency 10.8
951 immunodeficiency with hyper-igm, type 1 10.8
952 incontinentia pigmenti 10.8
953 spastic paraplegia 2, x-linked 10.8
954 citrullinemia, type ii, adult-onset 10.8
955 carney triad 10.8
956 alzheimer disease 6 10.8
957 birdshot chorioretinopathy 10.8
958 glycine encephalopathy 10.8
959 primary lateral sclerosis, juvenile 10.8
960 maturity-onset diabetes of the young, type 4 10.8
961 charcot-marie-tooth disease, axonal, type 2f 10.8
962 macular dystrophy, vitelliform, 3 10.8
963 autism 12 10.8
964 pitt-hopkins syndrome 10.8
965 autism 10 10.8
966 brugada syndrome 2 10.8
967 skeletal defects, genital hypoplasia, and mental retardation 10.8
968 short sleep, familial natural, 1 10.8
969 pseudohypoaldosteronism, type iie 10.8
970 adenine phosphoribosyltransferase deficiency 10.8
971 autism 19 10.8
972 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 10.8
973 saul-wilson syndrome 10.8
974 electroclinical syndrome 10.8
975 early onset absence epilepsy 10.8
976 coenzyme q10 deficiency disease 10.8
977 benign familial infantile epilepsy 10.8
978 familial hemiplegic migraine 10.8
979 catecholaminergic polymorphic ventricular tachycardia 10.8
980 haemophilus meningitis 10.8
981 oligomeganephronia 10.8
982 fanconi syndrome 10.8
983 multicentric reticulohistiocytosis 10.8
984 corpus luteum cyst 10.8
985 neurosarcoidosis 10.8
986 balanitis xerotica obliterans 10.8
987 urethral syndrome 10.8
988 clear cell acanthoma 10.8
989 sphingolipidosis 10.8
990 adenosarcoma 10.8
991 reflex epilepsy 10.8
992 botryoid rhabdomyosarcoma 10.8
993 adrenal carcinoma 10.8
994 reticulohistiocytic granuloma 10.8
995 cutaneous fibrous histiocytoma 10.8
996 collecting duct carcinoma 10.8
997 chromophobe renal cell carcinoma 10.8
998 myoepithelial carcinoma 10.8
999 pleomorphic xanthoastrocytoma 10.8
1000 gerstmann syndrome 10.8
1001 fibrolamellar carcinoma 10.8
1002 myxopapillary ependymoma 10.8
1003 chronic inflammatory demyelinating polyradiculoneuropathy 10.8
1004 pulmonary venoocclusive disease 10.8
1005 vipoma 10.8
1006 subacute thyroiditis 10.8
1007 subcorneal pustular dermatosis 10.8
1008 sezary's disease 10.8
1009 giant axonal neuropathy 10.8
1010 3-beta-hydroxysteroid dehydrogenase deficiency 10.8
1011 acute zonal occult outer retinopathy 10.8
1012 adult neuronal ceroid lipofuscinosis 10.8
1013 autoimmune polyglandular syndrome type 3 10.8
1014 autoimmune retinopathy 10.8
1015 brittle diabetes 10.8
1016 carcinoid syndrome 10.8
1017 catamenial pneumothorax 10.8
1018 craniofacial microsomia 10.8
1019 cutis verticis gyrata 10.8
1020 eales disease 10.8
1021 familial isolated pituitary adenoma 10.8
1022 fournier gangrene 10.8
1023 goblet cell carcinoid 10.8
1024 infantile apnea 10.8
1025 paroxysmal hemicrania 10.8
1026 quinquaud folliculitis decalvans 10.8
1027 synovial chondromatosis 10.8
1028 unilateral absence of a pulmonary artery 10.8
1029 urachal cyst 10.8
1030 virus associated hemophagocytic syndrome 10.8
1031 west nile virus encephalitis 10.8
1032 rigid spine muscular dystrophy 10.8
1033 psychogenic movement 10.8
1034 spinocerebellar atrophy 10.8
1035 superficial siderosis 10.8
1036 familial progressive hyperpigmentation 10.8
1037 benign childhood occipital epilepsy, panayiotopoulos type 10.8
1038 essential iris atrophy 10.8
1039 yemenite deaf-blind hypopigmentation syndrome 10.8
1040 spinocerebellar ataxia 31 10.8
1041 seizures, benign familial neonatal, 1 10.8
1042 behcet syndrome 10.8
1043 acromicric dysplasia 10.8
1044 camurati-engelmann disease 10.8
1045 gerstmann-straussler disease 10.8
1046 keratoendotheliitis fugax hereditaria 10.8
1047 otodental dysplasia 10.8
1048 precocious puberty, male-limited 10.8
1049 proteus syndrome 10.8
1050 rombo syndrome 10.8
1051 trichodentoosseous syndrome 10.8
1052 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.8
1053 hypophosphatasia, childhood 10.8
1054 muscular dystrophy, limb-girdle, autosomal recessive 1 10.8
1055 galactosialidosis 10.8
1056 d-bifunctional protein deficiency 10.8
1057 spinocerebellar ataxia 5 10.8
1058 oculoectodermal syndrome 10.8
1059 deafness, autosomal dominant 7 10.8
1060 citrullinemia, type ii, neonatal-onset 10.8
1061 albinism, oculocutaneous, type ib 10.8
1062 spinocerebellar ataxia 20 10.8
1063 myd88 deficiency 10.8
1064 glass syndrome 10.8
1065 isolated growth hormone deficiency, type ib 10.8
1066 infantile cerebellar-retinal degeneration 10.8
1067 precocious puberty, central, 2 10.8
1068 retinitis pigmentosa 84 10.8
1069 alternating hemiplegia of childhood 10.8
1070 hereditary sensory and autonomic neuropathy type 1 10.8
1071 unverricht-lundborg syndrome 10.8
1072 hereditary paraganglioma-pheochromocytoma syndromes 10.8
1073 familial osteochondritis dissecans 10.8
1074 proximal spinal muscular atrophy 10.8
1075 generalized gangliosidoses 10.8
1076 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
1077 chondrocalcinosis 2 10.7
1078 dystonia 12 10.7
1079 fundus albipunctatus 10.7
1080 renal cysts and diabetes syndrome 10.7
1081 hemifacial atrophy, progressive 10.7
1082 ichthyosis bullosa of siemens 10.7
1083 amyotrophy, hereditary neuralgic 10.7
1084 enchondromatosis, multiple, ollier type 10.7
1085 parkinson disease 1, autosomal dominant 10.7
1086 pseudohypoaldosteronism, type i, autosomal dominant 10.7
1087 calcification of joints and arteries 10.7
1088 boucher-neuhauser syndrome 10.7
1089 farber lipogranulomatosis 10.7
1090 gm1-gangliosidosis, type iii 10.7
1091 mucopolysaccharidosis, type iiia 10.7
1092 epilepsy, progressive myoclonic, 4, with or without renal failure 10.7
1093 niemann-pick disease, type a 10.7
1094 pseudohypoaldosteronism, type i, autosomal recessive 10.7
1095 peroxisomal acyl-coa oxidase deficiency 10.7
1096 perlman syndrome 10.7
1097 autoimmune polyendocrine syndrome, type ii 10.7
1098 spastic ataxia, charlevoix-saguenay type 10.7
1099 danon disease 10.7
1100 mohr-tranebjaerg syndrome 10.7
1101 lymphoproliferative syndrome, x-linked, 1 10.7
1102 ceroid lipofuscinosis, neuronal, 8 10.7
1103 loose anagen hair syndrome 10.7
1104 glomerulopathy with fibronectin deposits 2 10.7
1105 spondyloepimetaphyseal dysplasia, missouri type 10.7
1106 amyotrophy, monomelic 10.7
1107 leukoencephalopathy with vanishing white matter 10.7
1108 amegakaryocytic thrombocytopenia, congenital 10.7
1109 muscular dystrophy-dystroglycanopathy , type c, 5 10.7
1110 atrial fibrillation, familial, 3 10.7
1111 atrial fibrillation, familial, 1 10.7
1112 chromosome 15q11-q13 duplication syndrome 10.7
1113 sudden infant death with dysgenesis of the testes syndrome 10.7
1114 atrial fibrillation, familial, 2 10.7
1115 obesity, early-onset, with adrenal insufficiency and red hair 10.7
1116 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.7
1117 encephalopathy, acute, infection-induced 1 10.7
1118 ceroid lipofuscinosis, neuronal, 7 10.7
1119 atrial fibrillation, familial, 4 10.7
1120 atrial fibrillation, familial, 5 10.7
1121 atrial fibrillation, familial, 6 10.7
1122 atrial fibrillation, familial, 7 10.7
1123 glycogen storage disease ixc 10.7
1124 atrial fibrillation, familial, 8 10.7
1125 atrial fibrillation, familial, 9 10.7
1126 atrial fibrillation, familial, 10 10.7
1127 atrial fibrillation, familial, 11 10.7
1128 atrial fibrillation, familial, 12 10.7
1129 keppen-lubinsky syndrome 10.7
1130 nevoid hypermelanosis, linear and whorled 10.7
1131 sotos syndrome 2 10.7
1132 microcephaly 10, primary, autosomal recessive 10.7
1133 atrial fibrillation, familial, 13 10.7
1134 atrial fibrillation, familial, 14 10.7
1135 muscular dystrophy, limb-girdle, autosomal recessive 23 10.7
1136 walker-warburg syndrome 10.7
1137 hereditary lymphedema ii 10.7
1138 primary autosomal recessive microcephaly 10.7
1139 kleefstra syndrome 10.7
1140 erdheim-chester disease 10.7
1141 adenosine deaminase deficiency 10.7
1142 ataxia with vitamin e deficiency 10.7
1143 autosomal dominant tubulointerstitial kidney disease, umod-related 10.7
1144 biotin-thiamine-responsive basal ganglia disease 10.7
1145 congenital intrauterine infection-like syndrome 10.7
1146 continuous spike-wave during slow sleep syndrome 10.7
1147 dyt-thap1 10.7
1148 fukuyama type muscular dystrophy 10.7
1149 madras motor neuron disease 10.7
1150 scn2a related disorders 10.7
1151 mecp2-related severe neonatal encephalopathy 10.7
1152 chronic orthostatic intolerance 10.7
1153 coronary heart disease 1 10.7
1154 eye disease 10.6
1155 bone mineral density quantitative trait locus 8 10.6
1156 bone mineral density quantitative trait locus 15 10.6
1157 cataract 7 10.6
1158 seizures, benign familial neonatal, 2 10.6
1159 coproporphyria, hereditary 10.6
1160 schnyder corneal dystrophy 10.6
1161 campomelic dysplasia 10.6
1162 cafe-au-lait spots, multiple 10.6
1163 angel-shaped phalangoepiphyseal dysplasia 10.6
1164 adiposis dolorosa 10.6
1165 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 10.6
1166 cutis laxa, autosomal dominant 1 10.6
1167 epidermolysis bullosa simplex, generalized 10.6
1168 spinocerebellar ataxia 34 10.6
1169 birt-hogg-dube syndrome 10.6
1170 hypertrichosis, congenital generalized, with or without gingival hyperplasia 10.6
1171 aromatase excess syndrome 10.6
1172 hypertrophic neuropathy of dejerine-sottas 10.6
1173 ivic syndrome 10.6
1174 hypogonadotropic hypogonadism 2 with or without anosmia 10.6
1175 kbg syndrome 10.6
1176 tylosis with esophageal cancer 10.6
1177 microcephaly, autosomal dominant 10.6
1178 naegeli-franceschetti-jadassohn syndrome 10.6
1179 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.6
1180 buschke-ollendorff syndrome 10.6
1181 paroxysmal extreme pain disorder 10.6
1182 witkop syndrome 10.6
1183 vasculopathy, retinal, with cerebral leukodystrophy 10.6
1184 vitreoretinochoroidopathy 10.6
1185 immunodeficiency 27a 10.6
1186 microcephalic osteodysplastic primordial dwarfism, type i 10.6
1187 charcot-marie-tooth disease, type 4a 10.6
1188 jalili syndrome 10.6
1189 cornea plana 2, autosomal recessive 10.6
1190 cutis laxa, autosomal recessive, type iia 10.6
1191 meier-gorlin syndrome 1 10.6
1192 geleophysic dysplasia 1 10.6
1193 glycogen storage disease iv 10.6
1194 neurodegeneration with brain iron accumulation 1 10.6
1195 hyperlexia 10.6
1196 hypogonadotropic hypogonadism 3 with or without anosmia 10.6
1197 megalocornea 10.6
1198 microcephaly 1, primary, autosomal recessive 10.6
1199 muscular dystrophy, limb-girdle, autosomal recessive 5 10.6
1200 peho syndrome 10.6
1201 bjornstad syndrome 10.6
1202 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.6
1203 kowarski syndrome 10.6
1204 three m syndrome 1 10.6
1205 thrombocytopenia-absent radius syndrome 10.6
1206 usher syndrome, type iiia 10.6
1207 lubs x-linked mental retardation syndrome 10.6
1208 autism x-linked 1 10.6
1209 hsd10 mitochondrial disease 10.6
1210 autism x-linked 2 10.6
1211 autism x-linked 3 10.6
1212 epileptic encephalopathy, early infantile, 8 10.6
1213 autism x-linked 4 10.6
1214 autism x-linked 5 10.6
1215 autism x-linked 6 10.6
1216 bartter syndrome, type 5, antenatal, transient 10.6
1217 anemia, sideroblastic, and spinocerebellar ataxia 10.6
1218 cone-rod dystrophy, x-linked, 1 10.6
1219 isolated growth hormone deficiency, type iii, with agammaglobulinemia 10.6
1220 epileptic encephalopathy, early infantile, 1 10.6
1221 hypogonadotropic hypogonadism 1 with or without anosmia 10.6
1222 linear skin defects with multiple congenital anomalies 1 10.6
1223 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 10.6
1224 spondyloepiphyseal dysplasia tarda, x-linked 10.6
1225 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 10.6
1226 diabetes mellitus, transient neonatal, 1 10.6
1227 seizures, benign familial infantile, 1 10.6
1228 amyotrophic lateral sclerosis 5, juvenile 10.6
1229 marshall-smith syndrome 10.6
1230 neuronal intranuclear inclusion disease 10.6
1231 spinocerebellar ataxia 10 10.6
1232 myopathy, myofibrillar, 9, with early respiratory failure 10.6
1233 poikiloderma with neutropenia 10.6
1234 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.6
1235 microcephaly 4, primary, autosomal recessive 10.6
1236 welander distal myopathy 10.6
1237 hypobetalipoproteinemia, familial, 2 10.6
1238 spinocerebellar ataxia 13 10.6
1239 hypotrichosis 1 10.6
1240 segawa syndrome, autosomal recessive 10.6
1241 deafness, autosomal dominant 25 10.6
1242 seizures, benign familial infantile, 2 10.6
1243 rippling muscle disease 2 10.6
1244 paraganglioma and gastric stromal sarcoma 10.6
1245 hurler-scheie syndrome 10.6
1246 spinocerebellar ataxia, autosomal recessive 4 10.6
1247 spinocerebellar ataxia 21 10.6
1248 spinocerebellar ataxia 18 10.6
1249 newfoundland rod-cone dystrophy 10.6
1250 corneal dystrophy, avellino type 10.6
1251 irak4 deficiency 10.6
1252 juvenile myelomonocytic leukemia 10.6
1253 zinc deficiency, transient neonatal 10.6
1254 tropical calcific pancreatitis 10.6
1255 corneal dystrophy, lattice type iiia 10.6
1256 mitochondrial trifunctional protein deficiency 10.6
1257 muscular dystrophy, limb-girdle, autosomal dominant 3 10.6
1258 spinocerebellar ataxia 26 10.6
1259 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.6
1260 corneal dystrophy, congenital stromal 10.6
1261 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 10.6
1262 3-methylglutaconic aciduria, type v 10.6
1263 leukodystrophy, hypomyelinating, 5 10.6
1264 hypogonadotropic hypogonadism 4 with or without anosmia 10.6
1265 pulmonary alveolar proteinosis, acquired 10.6
1266 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 10.6
1267 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 10.6
1268 familial cold autoinflammatory syndrome 2 10.6
1269 bestrophinopathy, autosomal recessive 10.6
1270 autism 15 10.6
1271 chondrosarcoma, extraskeletal myxoid 10.6
1272 hypogonadotropic hypogonadism 5 with or without anosmia 10.6
1273 hypogonadotropic hypogonadism 6 with or without anosmia 10.6
1274 parkinson disease 14, autosomal recessive 10.6
1275 epilepsy, idiopathic generalized 10 10.6
1276 colorectal cancer, hereditary nonpolyposis, type 8 10.6
1277 breast-ovarian cancer, familial 3 10.6
1278 autism 16 10.6
1279 autism 17 10.6
1280 epilepsy, familial adult myoclonic, 3 10.6
1281 mitochondrial dna depletion syndrome 4b 10.6
1282 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 10.6
1283 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 10.6
1284 multiple congenital anomalies-hypotonia-seizures syndrome 1 10.6
1285 breast-ovarian cancer, familial 4 10.6
1286 colorectal cancer, hereditary nonpolyposis, type 6 10.6
1287 colorectal cancer, hereditary nonpolyposis, type 4 10.6
1288 colorectal cancer, hereditary nonpolyposis, type 5 10.6
1289 colorectal cancer, hereditary nonpolyposis, type 7 10.6
1290 cutis laxa, autosomal recessive, type iiib 10.6
1291 hypertriglyceridemia, transient infantile 10.6
1292 mirror movements 2 10.6
1293 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.6
1294 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 10.6
1295 hypogonadotropic hypogonadism 8 with or without anosmia 10.6
1296 hypogonadotropic hypogonadism 9 with or without anosmia 10.6
1297 hypogonadotropic hypogonadism 10 with or without anosmia 10.6
1298 hypogonadotropic hypogonadism 11 with or without anosmia 10.6
1299 hypogonadotropic hypogonadism 12 with or without anosmia 10.6
1300 hypogonadotropic hypogonadism 13 with or without anosmia 10.6
1301 microcephaly 9, primary, autosomal recessive 10.6
1302 hypogonadotropic hypogonadism 14 with or without anosmia 10.6
1303 hypogonadotropic hypogonadism 15 with or without anosmia 10.6
1304 charcot-marie-tooth disease, demyelinating, type 4f 10.6
1305 hypogonadotropic hypogonadism 16 with or without anosmia 10.6
1306 osteogenesis imperfecta, type xiv 10.6
1307 colorectal cancer 12 10.6
1308 hypogonadotropic hypogonadism 17 with or without anosmia 10.6
1309 hypogonadotropic hypogonadism 18 with or without anosmia 10.6
1310 hypogonadotropic hypogonadism 19 with or without anosmia 10.6
1311 hypogonadotropic hypogonadism 20 with or without anosmia 10.6
1312 hypogonadotropic hypogonadism 21 with or without anosmia 10.6
1313 ehlers-danlos syndrome, spondylodysplastic type, 2 10.6
1314 reticulate acropigmentation of kitamura 10.6
1315 premature ovarian failure 9 10.6
1316 pontocerebellar hypoplasia, type 2e 10.6
1317 hypogonadotropic hypogonadism 22 with or without anosmia 10.6
1318 neuropathy, hereditary motor and sensory, type vib, with optic atrophy 10.6
1319 cerebrooculofacioskeletal syndrome 3 10.6
1320 premature ovarian failure 11 10.6
1321 night blindness, congenital stationary, type 1h 10.6
1322 macular dystrophy, patterned, 3 10.6
1323 sotos syndrome 3 10.6
1324 uncombable hair syndrome 2 10.6
1325 uncombable hair syndrome 3 10.6
1326 cerebroretinal microangiopathy with calcifications and cysts 2 10.6
1327 cohen-gibson syndrome 10.6
1328 pelger-huet anomaly with mild skeletal anomalies 10.6
1329 isolated growth hormone deficiency, type v 10.6
1330 cardiomyopathy, dilated, 2c 10.6
1331 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 10.6
1332 galloway-mowat syndrome 6 10.6
1333 spondyloepimetaphyseal dysplasia with joint laxity, type 3 10.6
1334 brain abnormalities, neurodegeneration, and dysosteosclerosis 10.6
1335 hypothyroidism, congenital, nongoitrous, 7 10.6
1336 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 10.6
1337 retinitis pigmentosa 87 with choroidal involvement 10.6
1338 short stature and microcephaly with genital anomalies 10.6
1339 deafness, autosomal dominant 76 10.6
1340 sydenham chorea 10.6
1341 la crosse encephalitis 10.6
1342 familial atrial fibrillation 10.6
1343 brachyolmia 10.6
1344 spinocerebellar ataxia type 19/22 10.6
1345 autosomal dominant nocturnal frontal lobe epilepsy 10.6
1346 hyperekplexia 10.6
1347 autosomal recessive cutis laxa type iii 10.6
1348 hypermanganesemia with dystonia 10.6
1349 hyaline body myopathy 10.6
1350 salivary gland disease 10.6
1351 tethered spinal cord syndrome 10.6
1352 discitis 10.6
1353 kohler's disease 10.6
1354 familial lipoprotein lipase deficiency 10.6
1355 rhizomelic chondrodysplasia punctata 10.6
1356 breast malignant phyllodes tumor 10.6
1357 breast secretory carcinoma 10.6
1358 optic nerve sheath meningioma 10.6
1359 verruciform xanthoma of skin 10.6
1360 renal oncocytoma 10.6
1361 acral lentiginous melanoma 10.6
1362 carbonic anhydrase va deficiency 10.6
1363 mbd5 haploinsufficiency 10.6
1364 pura-related neurodevelopmental disorders 10.6
1365 48,xxyy syndrome 10.6
1366 8p inverted duplication/deletion syndrome 10.6
1367 adult-onset immunodeficiency with anti-interferon-gamma autoantibodies 10.6
1368 cerebro-oculo-facio-skeletal syndrome 10.6
1369 diffuse cutaneous systemic sclerosis 10.6
1370 idiopathic acute eosinophilic pneumonia 10.6
1371 juvenile ossifying fibroma 10.6
1372 littoral cell angioma of the spleen 10.6
1373 progeroid syndrome petty type 10.6
1374 recessive dystrophic epidermolysis bullosa-generalized other 10.6
1375 collagen vi-related myopathy 10.6
1376 genetic epilepsy with febrile seizures plus 10.6
1377 neurological consequences of cytomegalovirus infection 10.6
1378 neurological manifestations of pompe disease 10.6
1379 lipid metabolism disorder 10.6
1380 measles 10.6
1381 anxiety 10.6
1382 tetanus 10.6
1383 pre-eclampsia 10.6
1384 iron metabolism disease 10.5
1385 hypercholesterolemia, familial, 1 10.5
1386 cerebrovascular disease 10.5
1387 congestive heart failure 10.5
1388 heart disease 10.5
1389 alcohol dependence 10.5
1390 dental caries 10.5
1391 hair whorl 10.5
1392 chronic kidney disease 10.5
1393 hypothyroidism 10.5
1394 kidney disease 10.5
1395 lung disease 10.5
1396 dermatitis 10.5
1397 ischemia 10.5
1398 mental depression 10.5
1399 deficiency anemia 10.5
1400 47,xyy 10.5
1401 joint laxity, short stature, and myopia 10.5
1402 gestational diabetes 10.5
1403 bone resorption disease 10.5
1404 acute myocardial infarction 10.5
1405 hypogonadism 10.5
1406 chromosomal triplication 10.5
1407 rubella 10.5
1408 48,xyyy 10.5
1409 hypoglycemia 10.5
1410 alcohol use disorder 10.5
1411 rhinitis 10.5
1412 major affective disorder 8 10.5
1413 major affective disorder 9 10.5
1414 ige responsiveness, atopic 10.5
1415 pulmonary tuberculosis 10.5
1416 end stage renal disease 10.5
1417 brain injury 10.5
1418 adenoma 10.5
1419 major depressive disorder 10.5
1420 lipoprotein quantitative trait locus 10.5
1421 hyperlipoproteinemia, type iii 10.5
1422 cardiomyopathy, dilated, 1a 10.5
1423 spinocerebellar ataxia 29 10.5
1424 charcot-marie-tooth disease and deafness 10.5
1425 chorea, benign hereditary 10.5
1426 febrile seizures, familial, 1 10.5
1427 cornea plana 1, autosomal dominant 10.5
1428 corneal dystrophy, fleck 10.5
1429 corneal dystrophy, posterior polymorphous, 1 10.5
1430 corneal dystrophy, lattice type i 10.5
1431 craniofacial dysostosis with diaphyseal hyperplasia 10.5
1432 brachydactyly, type e1 10.5
1433 brachydactyly, type c 10.5
1434 brachydactyly, type b1 10.5
1435 osebold-remondini syndrome 10.5
1436 brachydactyly, type a4 10.5
1437 brachydactyly, type a3 10.5
1438 brachydactyly, type a2 10.5
1439 brachydactyly, type a1 10.5
1440 brachydactyly, combined b and e types 10.5
1441 biliary cirrhosis, primary, 1 10.5
1442 spastic ataxia 1, autosomal dominant 10.5
1443 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.5
1444 alternating hemiplegia of childhood 1 10.5
1445 alport syndrome 3, autosomal dominant 10.5
1446 acrokeratosis verruciformis 10.5
1447 danubian endemic familial nephropathy 10.5
1448 dentin dysplasia, type i 10.5
1449 dentin dysplasia, type ii 10.5
1450 maturity-onset diabetes of the young, type 1 10.5
1451 dupuytren contracture 10.5
1452 dyschromatosis universalis hereditaria 1 10.5
1453 dystonia 4, torsion, autosomal dominant 10.5
1454 epidermolysis bullosa simplex, dowling-meara type 10.5
1455 epidermolysis bullosa simplex with mottled pigmentation 10.5
1456 erythrocytosis, familial, 1 10.5
1457 felty syndrome 10.5
1458 hyperglycinuria 10.5
1459 guillain-barre syndrome, familial 10.5
1460 hepatitis b vaccine, response to 10.5
1461 beukes hip dysplasia 10.5
1462 wagner vitreoretinopathy 10.5
1463 hypertrichosis universalis congenita, ambras type 10.5
1464 keratoderma, palmoplantar, with deafness 10.5
1465 knuckle pads 10.5
1466 kyrle disease 10.5
1467 lenz-majewski hyperostotic dwarfism 10.5
1468 lipodystrophy, familial partial, type 2 10.5
1469 lymphangiectasia, intestinal 10.5
1470 yellow nail syndrome 10.5
1471 lymphedema-distichiasis syndrome 10.5
1472 monilethrix 10.5
1473 mullerian aplasia and hyperandrogenism 10.5
1474 bethlem myopathy 1 10.5
1475 ataxia-pancytopenia syndrome 10.5
1476 dystonia 11, myoclonic 10.5
1477 nail disorder, nonsyndromic congenital, 1 10.5
1478 nail-patella syndrome 10.5
1479 nemaline myopathy 3 10.5
1480 iga nephropathy 1 10.5
1481 schimmelpenning-feuerstein-mims syndrome 10.5
1482 nystagmus, voluntary 10.5
1483 thiemann disease 10.5
1484 gnathodiaphyseal dysplasia 10.5
1485 osteopetrosis, autosomal dominant 2 10.5
1486 paget disease, extramammary 10.5
1487 parietal foramina 1 10.5
1488 perry syndrome 10.5
1489 isolated growth hormone deficiency, type ii 10.5
1490 medullary cystic kidney disease 1 10.5
1491 familial expansile osteolysis 10.5
1492 polyposis, skin pigmentation, alopecia, and fingernail changes 10.5
1493 liddle syndrome 1 10.5
1494 reticular dystrophy of retinal pigment epithelium 10.5
1495 retinitis pigmentosa 9 10.5
1496 say syndrome 10.5
1497 spondyloepiphyseal dysplasia tarda, autosomal dominant 10.5
1498 overhydrated hereditary stomatocytosis 10.5
1499 tarsal-carpal coalition syndrome 10.5
1500 thyroglossal duct cyst, familial 10.5
1501 hypophosphatemic rickets, autosomal dominant 10.5
1502 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 10.5
1503 afibrinogenemia, congenital 10.5
1504 albinism, oculocutaneous, type iii 10.5
1505 alport syndrome 2, autosomal recessive 10.5
1506 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.5
1507 aphalangy with hemivertebrae 10.5
1508 aplasia cutis congenita with intestinal lymphangiectasia 10.5
1509 arthrogryposis, renal dysfunction, and cholestasis 1 10.5
1510 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.5
1511 atransferrinemia 10.5
1512 kyphomelic dysplasia 10.5
1513 carnitine-acylcarnitine translocase deficiency 10.5
1514 cerebellar ataxia, early-onset, with retained tendon reflexes 10.5
1515 corneal dystrophy and perceptive deafness 10.5
1516 macular dystrophy, corneal 10.5
1517 agenesis of the corpus callosum with peripheral neuropathy 10.5
1518 cranioectodermal dysplasia 1 10.5
1519 acth-independent macronodular adrenal hyperplasia 10.5
1520 cutis laxa, autosomal recessive, type iiia 10.5
1521 cystinosis, late-onset juvenile or adolescent nephropathic type 10.5
1522 lactose intolerance, adult type 10.5
1523 dubowitz syndrome 10.5
1524 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.5
1525 ehlers-danlos syndrome, dermatosparaxis type 10.5
1526 epilepsy with bilateral occipital calcifications 10.5
1527 factor x deficiency 10.5
1528 hypogonadotropic hypogonadism 23 without anosmia 10.5
1529 hypogonadotropic hypogonadism 24 without anosmia 10.5
1530 fountain syndrome 10.5
1531 gm1-gangliosidosis, type i 10.5
1532 glaucoma 3, primary congenital, a 10.5
1533 glycogen storage disease ib 10.5
1534 glycogen storage disease vi 10.5
1535 glycogen storage disease vii 10.5
1536 hyperphenylalaninemia, bh4-deficient, b 10.5
1537 bile acid synthesis defect, congenital, 2 10.5
1538 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.5
1539 hypophosphatasia, infantile 10.5
1540 ichthyosis, congenital, autosomal recessive 2 10.5
1541 ichthyosis, congenital, autosomal recessive 1 10.5
1542 iminoglycinuria 10.5
1543 vici syndrome 10.5
1544 growth hormone insensitivity with immunodeficiency 10.5
1545 dihydrolipoamide dehydrogenase deficiency 10.5
1546 miller-dieker lissencephaly syndrome 10.5
1547 mal de meleda 10.5
1548 marinesco-sjogren syndrome 10.5
1549 frank-ter haar syndrome 10.5
1550 homocystinuria-megaloblastic anemia, cblg complementation type 10.5
1551 microcephaly with chemotactic defect and transient hypogammaglobulinemia 10.5
1552 microphthalmia, isolated 1 10.5
1553 mitochondrial dna depletion syndrome 3 10.5
1554 monosomy 7 of bone marrow 10.5
1555 mucopolysaccharidosis, type iiib 10.5
1556 mucopolysaccharidosis, type iiic 10.5
1557 mucopolysaccharidosis, type iiid 10.5
1558 holocarboxylase synthetase deficiency 10.5
1559 miyoshi muscular dystrophy 1 10.5
1560 schwartz-jampel syndrome, type 1 10.5
1561 night blindness, congenital stationary, type 1b 10.5
1562 multicentric osteolysis, nodulosis, and arthropathy 10.5
1563 osteopetrosis, autosomal recessive 1 10.5
1564 osteopetrosis, autosomal recessive 2 10.5
1565 osteopetrosis, autosomal recessive 5 10.5
1566 osteopetrosis, autosomal recessive 3 10.5
1567 hyperphenylalaninemia, bh4-deficient, a 10.5
1568 glycogen storage disease ixb 10.5
1569 hyperphenylalaninemia, bh4-deficient, d 10.5
1570 pseudovaginal perineoscrotal hypospadias 10.5
1571 refsum disease, classic 10.5
1572 senior-loken syndrome 1 10.5
1573 short-rib thoracic dysplasia 9 with or without polydactyly 10.5
1574 reticular dysgenesis 10.5
1575 retinal dystrophy, reticular pigmentary, of posterior pole 10.5
1576 myoglobinuria, acute recurrent, autosomal recessive 10.5
1577 sialuria 10.5
1578 peeling skin syndrome 1 10.5
1579 spastic paraplegia 17, autosomal dominant 10.5
1580 spondyloepimetaphyseal dysplasia, sponastrime type 10.5
1581 striatonigral degeneration, infantile 10.5
1582 multiple sulfatase deficiency 10.5
1583 sulfite oxidase deficiency, isolated 10.5
1584 gm2-gangliosidosis, ab variant 10.5
1585 spastic paraplegia 20, autosomal recessive 10.5
1586 tyrosinemia, type ii 10.5
1587 tyrosinemia, type i 10.5
1588 usher syndrome, type iia 10.5
1589 usher syndrome, type ic 10.5
1590 wrinkly skin syndrome 10.5
1591 xeroderma pigmentosum, complementation group c 10.5
1592 xeroderma pigmentosum, complementation group e 10.5
1593 young syndrome 10.5
1594 retinitis pigmentosa 3 10.5
1595 epileptic encephalopathy, early infantile, 9 10.5
1596 ovarian dysgenesis 2 10.5
1597 premature ovarian failure 2a 10.5
1598 premature ovarian failure 2b 10.5
1599 epileptic encephalopathy, early infantile, 2 10.5
1600 neurodegeneration with brain iron accumulation 5 10.5
1601 trichothiodystrophy 5, nonphotosensitive 10.5
1602 tonne-kalscheuer syndrome 10.5
1603 alport syndrome 1, x-linked 10.5
1604 spinal muscular atrophy, x-linked 2 10.5
1605 chondrodysplasia punctata 1, x-linked recessive 10.5
1606 occipital horn syndrome 10.5
1607 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.5
1608 focal dermal hypoplasia 10.5
1609 spermatogenic failure, x-linked, 1 10.5
1610 glycogen storage disease ixa1 10.5
1611 deafness, nonsyndromic sensorineural, mitochondrial 10.5
1612 mitochondrial myopathy, infantile, transient 10.5
1613 retinitis pigmentosa 12 10.5
1614 epilepsy, childhood absence 1 10.5
1615 venous malformations, multiple cutaneous and mucosal 10.5
1616 tibial muscular dystrophy, tardive 10.5
1617 codas syndrome 10.5
1618 chromosome 2q37 deletion syndrome 10.5
1619 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 10.5
1620 carnitine palmitoyltransferase ii deficiency, infantile 10.5
1621 brody myopathy 10.5
1622 usher syndrome, type id 10.5
1623 brugada syndrome 1 10.5
1624 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.5
1625 spastic paraplegia 9a, autosomal dominant 10.5
1626 hypocalcemia, autosomal dominant 1 10.5
1627 potocki-shaffer syndrome 10.5
1628 ichthyosis, congenital, autosomal recessive 4a 10.5
1629 muscular dystrophy, limb-girdle, autosomal recessive 6 10.5
1630 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 10.5
1631 nicolaides-baraitser syndrome 10.5
1632 ribbing disease 10.5
1633 peroxisome biogenesis disorder 1b 10.5
1634 sebaceous gland hyperplasia, familial presenile 10.5
1635 phosphoglycerate dehydrogenase deficiency 10.5
1636 usher syndrome, type if 10.5
1637 ichthyosis, congenital, autosomal recessive 11 10.5
1638 deafness, autosomal dominant 15 10.5
1639 hyperinsulinemic hypoglycemia, familial, 3 10.5
1640 muscular dystrophy, limb-girdle, autosomal dominant 1 10.5
1641 omenn syndrome 10.5
1642 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.5
1643 rheumatoid arthritis, systemic juvenile 10.5
1644 spinal muscular atrophy, distal, autosomal recessive, 1 10.5
1645 spinocerebellar ataxia 12 10.5
1646 febrile seizures, familial, 4 10.5
1647 salla disease 10.5
1648 nephronophthisis 3 10.5
1649 spinocerebellar ataxia 11 10.5
1650 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.5
1651 ichthyosis, congenital, autosomal recessive 5 10.5
1652 microcephaly 3, primary, autosomal recessive 10.5
1653 spastic paraplegia 12, autosomal dominant 10.5
1654 north american indian childhood cirrhosis 10.5
1655 bohring-opitz syndrome 10.5
1656 macrocephaly/autism syndrome 10.5
1657 nemaline myopathy 5 10.5
1658 spinocerebellar ataxia 14 10.5
1659 usher syndrome, type iic 10.5
1660 charcot-marie-tooth disease, axonal, type 2b2 10.5
1661 hyperaldosteronism, familial, type ii 10.5
1662 hereditary motor and sensory neuropathy, type iic 10.5
1663 phelan-mcdermid syndrome 10.5
1664 deafness, autosomal dominant 22 10.5
1665 maturity-onset diabetes of the young, type 6 10.5
1666 ichthyosis, congenital, autosomal recessive 3 10.5
1667 camurati-engelmann disease, type 2 10.5
1668 spinocerebellar ataxia 15 10.5
1669 dyskinesia, familial, with facial myokymia 10.5
1670 deafness, autosomal dominant 36 10.5
1671 myopathy, distal, with anterior tibial onset 10.5
1672 hemifacial myohyperplasia 10.5
1673 usher syndrome, type ig 10.5
1674 nephronophthisis 4 10.5
1675 deafness, autosomal recessive 30 10.5
1676 spastic paraplegia 7, autosomal recessive 10.5
1677 osteofibrous dysplasia 10.5
1678 dystonia, juvenile-onset 10.5
1679 autism 8 10.5
1680 immunodeficiency, common variable, 1 10.5
1681 ichthyosis, cyclic, with epidermolytic hyperkeratosis 10.5
1682 niemann-pick disease, type b 10.5
1683 osteopetrosis, autosomal dominant 1 10.5
1684 bile acid synthesis defect, congenital, 1 10.5
1685 angioma, tufted 10.5
1686 autism 3 10.5
1687 neutrophilic dermatosis, acute febrile 10.5
1688 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.5
1689 capillary malformation-arteriovenous malformation 1 10.5
1690 microcephaly 6, primary, autosomal recessive 10.5
1691 spinocerebellar ataxia 25 10.5
1692 lipodystrophy, partial, acquired 10.5
1693 microcephaly 5, primary, autosomal recessive 10.5
1694 pyruvate dehydrogenase phosphatase deficiency 10.5
1695 spondylometaphyseal dysplasia with cone-rod dystrophy 10.5
1696 premature ovarian failure 3 10.5
1697 ceroid lipofuscinosis, neuronal, 9 10.5
1698 czech dysplasia 10.5
1699 schindler disease, type i 10.5
1700 colloid cysts of third ventricle 10.5
1701 autism 6 10.5
1702 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.5
1703 spastic paraplegia, optic atrophy, and neuropathy 10.5
1704 aminoacylase 1 deficiency 10.5
1705 retinal cone dystrophy 3a 10.5
1706 spinocerebellar ataxia 23 10.5
1707 retinal cone dystrophy 3b 10.5
1708 koolen-de vries syndrome 10.5
1709 maturity-onset diabetes of the young, type 7 10.5
1710 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.5
1711 diabetes mellitus, transient neonatal, 3 10.5
1712 autism 7 10.5
1713 spinocerebellar ataxia, autosomal recessive 8 10.5
1714 autism 11 10.5
1715 autism 13 10.5
1716 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 10.5
1717 autism 9 10.5
1718 epilepsy, idiopathic generalized 13 10.5
1719 usher syndrome, type iid 10.5
1720 legius syndrome 10.5
1721 osteopetrosis, autosomal recessive 4 10.5
1722 osteopetrosis, autosomal recessive 6 10.5
1723 premature ovarian failure 5 10.5
1724 krabbe disease, atypical, due to saposin a deficiency 10.5
1725 brugada syndrome 3 10.5
1726 brugada syndrome 4 10.5
1727 epilepsy, childhood absence 6 10.5
1728 dystonia 16 10.5
1729 maturity-onset diabetes of the young, type 9 10.5
1730 epilepsy, childhood absence 5 10.5
1731 ichthyosis, congenital, autosomal recessive 6 10.5
1732 osteopetrosis, autosomal recessive 7 10.5
1733 premature ovarian failure 6 10.5
1734 microcephaly 7, primary, autosomal recessive 10.5
1735 cerebral creatine deficiency syndrome 2 10.5
1736 brugada syndrome 5 10.5
1737 growth retardation, developmental delay, and facial dysmorphism 10.5
1738 encephalopathy, acute, infection-induced 2 10.5
1739 biliary cirrhosis, primary, 2 10.5
1740 biliary cirrhosis, primary, 3 10.5
1741 metaphyseal anadysplasia 2 10.5
1742 choroidal dystrophy, central areolar 2 10.5
1743 brugada syndrome 6 10.5
1744 brugada syndrome 8 10.5
1745 cutis laxa, autosomal recessive, type ic 10.5
1746 hemochromatosis, type 2b 10.5
1747 maturity-onset diabetes of the young, type 10 10.5
1748 maturity-onset diabetes of the young, type 11 10.5
1749 deafness, autosomal recessive 91 10.5
1750 occult macular dystrophy 10.5
1751 epileptic encephalopathy, early infantile, 7 10.5
1752 complement component 8 deficiency, type ii 10.5
1753 complement component 8 deficiency, type i 10.5
1754 generalized epilepsy with febrile seizures plus, type 8 10.5
1755 ficolin 3 deficiency 10.5
1756 hypomagnesemia 6, renal 10.5
1757 spinocerebellar ataxia 35 10.5
1758 megalencephalic leukoencephalopathy with subcortical cysts 2a 10.5
1759 ichthyosis, congenital, autosomal recessive 8 10.5
1760 osteogenesis imperfecta, type vi 10.5
1761 ventricular tachycardia, catecholaminergic polymorphic, 3 10.5
1762 sick sinus syndrome 3 10.5
1763 geleophysic dysplasia 2 10.5
1764 biliary cirrhosis, primary, 4 10.5
1765 biliary cirrhosis, primary, 5 10.5
1766 hyperpigmentation, familial progressive, 1 10.5
1767 peripheral neuropathy, myopathy, hoarseness, and hearing loss 10.5
1768 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.5
1769 pregnancy loss, recurrent 1 10.5
1770 pregnancy loss, recurrent 2 10.5
1771 pregnancy loss, recurrent 3 10.5
1772 febrile seizures, familial, 11 10.5
1773 cutis laxa, autosomal dominant 2 10.5
1774 charcot-marie-tooth disease, axonal, type 2p 10.5
1775 cutis laxa, autosomal recessive, type ib 10.5
1776 usher syndrome, type iiib 10.5
1777 epileptic encephalopathy, early infantile, 13 10.5
1778 multiple enchondromatosis, maffucci type 10.5
1779 keratoconus 5 10.5
1780 keratoconus 6 10.5
1781 microcephaly 8, primary, autosomal recessive 10.5
1782 pontocerebellar hypoplasia, type 1b 10.5
1783 alternating hemiplegia of childhood 2 10.5
1784 epilepsy, idiopathic generalized 12 10.5
1785 usher syndrome, type ij 10.5
1786 immunodeficiency 30 10.5
1787 epileptic encephalopathy, early infantile, 14 10.5
1788 leptin receptor deficiency 10.5
1789 epileptic encephalopathy, early infantile, 15 10.5
1790 ichthyosis, congenital, autosomal recessive 7 10.5
1791 ichthyosis, congenital, autosomal recessive 9 10.5
1792 ichthyosis, congenital, autosomal recessive 10 10.5
1793 cowden syndrome 4 10.5
1794 cowden syndrome 5 10.5
1795 cowden syndrome 6 10.5
1796 pulmonary hypertension, primary, 4 10.5
1797 charcot-marie-tooth disease, recessive intermediate c 10.5
1798 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.5
1799 microcephaly 11, primary, autosomal recessive 10.5
1800 basal ganglia calcification, idiopathic, 5 10.5
1801 triosephosphate isomerase deficiency 10.5
1802 deafness, autosomal recessive 76 10.5
1803 episodic pain syndrome, familial, 3 10.5
1804 hypobetalipoproteinemia, familial, 1 10.5
1805 developmental dysplasia of the hip 2 10.5
1806 morbid obesity and spermatogenic failure 10.5
1807 premature ovarian failure 8 10.5
1808 desbuquois dysplasia 2 10.5
1809 xia-gibbs syndrome 10.5
1810 culler-jones syndrome 10.5
1811 immunodeficiency 27b 10.5
1812 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 10.5
1813 microcephaly 13, primary, autosomal recessive 10.5
1814 mirror movements 3 10.5
1815 microcephaly 12, primary, autosomal recessive 10.5
1816 retinal dystrophy, juvenile cataracts, and short stature syndrome 10.5
1817 familial cold autoinflammatory syndrome 4 10.5
1818 catel-manzke syndrome 10.5
1819 generalized epilepsy with febrile seizures plus, type 9 10.5
1820 polyglucosan body myopathy 2 10.5
1821 maturity-onset diabetes of the young, type 13 10.5
1822 parkinson disease 21 10.5
1823 epileptic encephalopathy, early infantile, 32 10.5
1824 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 10.5
1825 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.5
1826 brugada syndrome 9 10.5
1827 microcephaly 14, primary, autosomal recessive 10.5
1828 familial adenomatous polyposis 3 10.5
1829 microcephaly 15, primary, autosomal recessive 10.5
1830 maturity-onset diabetes of the young, type 14 10.5
1831 immunodeficiency, common variable, 12 10.5
1832 cutis laxa, autosomal dominant 3 10.5
1833 ring chromosome 14 syndrome 10.5
1834 charcot-marie-tooth disease, axonal, type 2w 10.5
1835 yuan-harel-lupski syndrome 10.5
1836 microcephaly 16, primary, autosomal recessive 10.5
1837 spinocerebellar ataxia, autosomal recessive 21 10.5
1838 tremor, hereditary essential, 5 10.5
1839 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 10.5
1840 spinocerebellar ataxia 42 10.5
1841 myopathy, scapulohumeroperoneal 10.5
1842 cowden syndrome 7 10.5
1843 immunodeficiency, common variable, 13 10.5
1844 charcot-marie-tooth disease, axonal, type 2cc 10.5
1845 premature ovarian failure 12 10.5
1846 deafness, autosomal dominant 66 10.5
1847 macrocephaly, dysmorphic facies, and psychomotor retardation 10.5
1848 charcot-marie-tooth disease, axonal, type 2t 10.5
1849 nasopharyngeal carcinoma 3 10.5
1850 seizures, benign familial infantile, 5 10.5
1851 microcephaly 17, primary, autosomal recessive 10.5
1852 shashi-pena syndrome 10.5
1853 nephronophthisis 20 10.5
1854 epileptic encephalopathy, early infantile, 48 10.5
1855 premature ovarian failure 13 10.5
1856 microcephaly 18, primary, autosomal dominant 10.5
1857 deafness, autosomal dominant 71 10.5
1858 deafness, autosomal dominant 73 10.5
1859 neurodegeneration, childhood-onset, with brain atrophy 10.5
1860 leukodystrophy, progressive, early childhood-onset 10.5
1861 microcephaly 19, primary, autosomal recessive 10.5
1862 geleophysic dysplasia 3 10.5
1863 epileptic encephalopathy, infantile or early childhood, 2 10.5
1864 microcephaly 20, primary, autosomal recessive 10.5
1865 amyotrophic lateral sclerosis 25 10.5
1866 epilepsy, juvenile myoclonic 10 10.5
1867 microcephaly 21, primary, autosomal recessive 10.5
1868 microcephaly 22, primary, autosomal recessive 10.5
1869 microcephaly 23, primary, autosomal recessive 10.5
1870 premature ovarian failure 14 10.5
1871 charcot-marie-tooth disease, axonal, type 2dd 10.5
1872 peeling skin syndrome 6 10.5
1873 deafness, autosomal recessive 110 10.5
1874 premature ovarian failure 15 10.5
1875 muscular dystrophy, limb-girdle, autosomal dominant 4 10.5
1876 usher syndrome, type iv 10.5
1877 isolated growth hormone deficiency, type iv 10.5
1878 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 10.5
1879 microcephaly 24, primary, autosomal recessive 10.5
1880 hyperparathyroidism, transient neonatal 10.5
1881 mirror movements 4 10.5
1882 microcephaly 25, primary, autosomal recessive 10.5
1883 central centrifugal cicatricial alopecia 10.5
1884 immunodeficiency 60 10.5
1885 usher syndrome, type 1m 10.5
1886 neurooculocardiogenitourinary syndrome 10.5
1887 premature ovarian failure 16 10.5
1888 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 10.5
1889 tremor, hereditary essential, 6 10.5
1890 epilepsy, progressive myoclonic, 11 10.5
1891 glaucoma, primary closed-angle 10.5
1892 liberfarb syndrome 10.5
1893 livedoid vasculitis 10.5
1894 antley-bixler syndrome 10.5
1895 severe congenital neutropenia 10.5
1896 asphyxiating thoracic dystrophy 10.5
1897 ocular albinism 10.5
1898 arterial calcification of infancy 10.5
1899 neonatal period electroclinical syndrome 10.5
1900 infancy electroclinical syndrome 10.5
1901 childhood electroclinical syndrome 10.5
1902 ehlers-danlos syndrome progeroid type 10.5
1903 cd45 deficiency 10.5
1904 cold-induced sweating syndrome 10.5
1905 syndromic x-linked intellectual disability snyder type 10.5
1906 christianson syndrome 10.5
1907 primary hypomagnesemia 10.5
1908 juvenile-onset parkinson's disease 10.5
1909 autosomal recessive cutis laxa type i 10.5
1910 congenital fiber-type disproportion 10.5
1911 ovarian sex-cord stromal tumor 10.5
1912 glycogen storage disease ixa 10.5
1913 progressive familial heart block 10.5
1914 tibial muscular dystrophy 10.5
1915 distal muscular dystrophy with anterior tibial onset 10.5
1916 familial isolated hypoparathyroidism 10.5
1917 progressive myoclonus epilepsy 3 10.5
1918 geleophysic dysplasia 10.5
1919 familial episodic pain syndrome 10.5
1920 cerebellar ataxia type 42 10.5
1921 multisystem proteinopathy 10.5
1922 late congenital syphilis 10.5
1923 rhinoscleroma 10.5
1924 pelvic muscle wasting 10.5
1925 melanoacanthoma 10.5
1926 osteopoikilosis 10.5
1927 dieulafoy lesion 10.5
1928 phacogenic glaucoma 10.5
1929 black piedra 10.5
1930 tolosa-hunt syndrome 10.5
1931 mucopolysaccharidosis iv 10.5
1932 intracranial arteriosclerosis 10.5
1933 childhood disintegrative disease 10.5
1934 cortical senile cataract 10.5
1935 fox-fordyce disease 10.5
1936 morgagni cataract 10.5
1937 de quervain disease 10.5
1938 bicipital tenosynovitis 10.5
1939 chorea gravidarum 10.5
1940 benign familial neonatal epilepsy 10.5
1941 facial hemiatrophy 10.5
1942 barbiturate dependence 10.5
1943 pigmented villonodular synovitis 10.5
1944 primary hyperoxaluria 10.5
1945 olfactory nerve disease 10.5
1946 brain stem glioma 10.5
1947 schnitzler syndrome 10.5
1948 malignant syringoma 10.5
1949 malignant acrospiroma 10.5
1950 diffuse peritoneal leiomyomatosis 10.5
1951 breast juvenile papillomatosis 10.5
1952 astroblastoma 10.5
1953 herpetic whitlow 10.5
1954 lethal midline granuloma 10.5
1955 neonatal candidiasis 10.5
1956 eosinophilia-myalgia syndrome 10.5
1957 distal hereditary motor neuropathies 10.5
1958 17q12 recurrent deletion syndrome 10.5
1959 adcy5-related dyskinesia 10.5
1960 autosomal dominant tubulointerstitial kidney disease, ren-related 10.5
1961 chd2-related neurodevelopmental disorders 10.5
1962 cytochrome p450 oxidoreductase deficiency 10.5
1963 diabetes mellitus, 6q24-related transient neonatal 10.5
1964 familial paroxysmal nonkinesigenic dyskinesia 10.5
1965 mitochondrial membrane protein-associated neurodegeneration 10.5
1966 polr3-related leukodystrophy 10.5
1967 prickle1-related progressive myoclonus epilepsy with ataxia 10.5
1968 phosphorylase kinase deficiency 10.5
1969 scn8a-related epilepsy with encephalopathy 10.5
1970 stxbp1 encephalopathy with epilepsy 10.5
1971 2-methyl-3-hydroxybutyric aciduria 10.5
1972 acalvaria 10.5
1973 adenosylcobalamin deficiency 10.5
1974 adult-onset nemaline myopathy 10.5
1975 agammaglobulinemia, non-bruton type 10.5
1976 attenuated familial adenomatous polyposis 10.5
1977 autosomal recessive intellectual disability 58 10.5
1978 bamforth syndrome 10.5
1979 banti's syndrome 10.5
1980 benign multicystic peritoneal mesothelioma 10.5
1981 bobble-head doll syndrome 10.5
1982 chaotic atrial tachycardia 10.5
1983 childhood-onset nemaline myopathy 10.5
1984 cockayne syndrome type iii 10.5
1985 cold urticaria 10.5
1986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia 10.5
1987 epidermoid brain cyst 10.5
1988 familial amyloidosis, finnish type 10.5
1989 familial deafness 10.5
1990 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.5
1991 familial tumoral calcinosis 10.5
1992 febrile ulceronecrotic mucha-habermann disease 10.5
1993 florid cemento-osseous dysplasia 10.5
1994 foix chavany marie syndrome 10.5
1995 gardner-diamond syndrome 10.5
1996 gianotti crosti syndrome 10.5
1997 graham-little-piccardi-lassueur syndrome 10.5
1998 granulomatous lobular mastitis 10.5
1999 granulomatous rosacea 10.5
2000 granulomatous slack skin disease 10.5
2001 handl syndrome 10.5
2002 harlequin syndrome 10.5
2003 hereditary geniospasm 10.5
2004 hereditary sensorimotor neuropathy with hyperelastic skin 10.5
2005 hypnic headache 10.5
2006 hypomelanotic disorder 10.5
2007 hypotrichosis simplex 10.5
2008 insulin-resistance type b 10.5
2009 intermediate congenital nemaline myopathy 10.5
2010 intravascular papillary endothelial hyperplasia 10.5
2011 irvan syndrome 10.5
2012 juvenile polymyositis 10.5
2013 keratoderma palmoplantaris transgrediens 10.5
2014 kienbock's disease 10.5
2015 laryngeal papillomatosis 10.5
2016 ledderhose disease 10.5
2017 localized lipodystrophy 10.5
2018 madelung deformity 10.5
2019 malignant migrating partial seizures of infancy 10.5
2020 methemoglobinemia, beta-globin type 10.5
2021 methylmalonic acidemia with homocystinuria 10.5
2022 migraine with brainstem aura 10.5
2023 mitochondrial genetic disorders 10.5
2024 myalgic encephalomyelitis/chronic fatigue syndrome 10.5
2025 n-acetyl-alpha-d-galactosaminidase deficiency type iii 10.5
2026 nodular regenerative hyperplasia 10.5
2027 papillary glioneuronal tumors 10.5
2028 papular epidermal nevi with skyline basal cell layers syndrome 10.5
2029 paroxysmal exertion-induced dyskinesia 10.5
2030 pediatric autoimmune neuropsychiatric disorders associated with streptococcus infections 10.5
2031 plummer vinson syndrome 10.5
2032 polyembryoma 10.5
2033 pseudoangiomatous stromal hyperplasia 10.5
2034 refsum disease, infantile form 10.5
2035 retinochoroidal coloboma 10.5
2036 rheumatoid factor-negative juvenile idiopathic arthritis 10.5
2037 salivary gland cancer, adult 10.5
2038 sclerosing mucoepidermoid carcinoma with eosinophilia 10.5
2039 serpiginous choroiditis 10.5
2040 small cell carcinoma of the bladder 10.5
2041 spastic paraplegia 26 10.5
2042 spastic paraplegia 32 10.5
2043 spastic paraplegia 5a 10.5
2044 spastic paraplegia facial cutaneous lesions 10.5
2045 subependymoma 10.5
2046 sunct headache 10.5
2047 superior limbic keratoconjunctivitis 10.5
2048 t-cell prolymphocytic leukemia 10.5
2049 t-cell/histiocyte rich large b cell lymphoma 10.5
2050 tyrosine-oxidase temporary deficiency 10.5
2051 ulerythema ophryogenesis 10.5
2052 wagner syndrome 10.5
2053 8p11 myeloproliferative syndrome 10.5
2054 cln4 disease 10.5
2055 huntington disease-like syndrome 10.5
2056 mda5 deficiency 10.5
2057 naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis 10.5
2058 pacs1 syndrome 10.5
2059 ren-related kidney disease 10.5
2060 schindler disease 10.5
2061 trnt1 deficiency 10.5
2062 autoimmune addison disease 10.5
2063 epilepsy-aphasia spectrum 10.5
2064 familial acute myeloid leukemia with mutated cebpa 10.5
2065 familial pityriasis rubra pilaris 10.5
2066 idiopathic infantile hypercalcemia 10.5
2067 lattice corneal dystrophy type ii 10.5
2068 ataxias and cerebellar or spinocerebellar degeneration 10.5
2069 central cervical cord syndrome 10.5
2070 megalencephaly 10.5
2071 o'sullivan-mcleod syndrome 10.5
2072 rheumatic encephalitis 10.5
2073 hughes-stovin syndrome 10.5
2074 panner disease 10.5
2075 poliomyelitis 10.5
2076 body mass index quantitative trait locus 4 10.4
2077 body mass index quantitative trait locus 9 10.4
2078 body mass index quantitative trait locus 8 10.4
2079 body mass index quantitative trait locus 10 10.4
2080 body mass index quantitative trait locus 7 10.4
2081 body mass index quantitative trait locus 12 10.4
2082 body mass index quantitative trait locus 14 10.4
2083 body mass index quantitative trait locus 18 10.4
2084 body mass index quantitative trait locus 19 10.4
2085 body mass index quantitative trait locus 20 10.4
2086 myeloid leukemia 10.4
2087 influenza 10.4
2088 haemophilus influenzae 10.4
2089 prostatic hypertrophy 10.4
2090 autoimmune disease 10.4
2091 otitis media 10.4
2092 arteries, anomalies of 10.4
2093 glucose intolerance 10.4
2094 liver disease 10.4
2095 back pain 10.4
2096 amyloidosis 10.4
2097 allergic rhinitis 10.4
2098 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
2099 seizure disorder 10.4
2100 lateral sclerosis 10.4
2101 head injury 10.4
2102 substance abuse 10.4
2103 prostatic adenoma 10.4
2104 bronchitis 10.4
2105 constipation 10.4
2106 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.4
2107 visual epilepsy 10.4
2108 cytokine deficiency 10.4
2109 atrial fibrillation 10.4
2110 heart septal defect 10.4
2111 chronic pain 10.4
2112 spinal cord injury 10.4
2113 alacrima, achalasia, and mental retardation syndrome 10.4
2114 hypoxia 10.4
2115 branchiootic syndrome 1 10.4
2116 hyperinsulinism 10.4
2117 appendicitis 10.4
2118 gastroenteritis 10.4
2119 cholecystitis 10.4
2120 adenocarcinoma 10.4
2121 rapidly involuting congenital hemangioma 10.4
2122 angina pectoris 10.4
2123 muscular atrophy 10.4
2124 mumps 10.4
2125 sexual disorder 10.4
2126 cleft lip 10.4
2127 periodontitis 10.4
2128 lung cancer 10.4
2129 eclampsia 10.4
2130 neuropathy 10.4
2131 chlamydia 10.4
2132 subacute delirium 10.4
2133 ocular motor apraxia 10.4
2134 microvascular complications of diabetes 3 10.4
2135 microvascular complications of diabetes 4 10.4
2136 microvascular complications of diabetes 6 10.4
2137 microvascular complications of diabetes 7 10.4
2138 cystic fibrosis 10.4
2139 ataxia and polyneuropathy, adult-onset 10.4
2140 suppression amblyopia 10.4
2141 amblyopia 10.4
2142 strabismus 10.3
2143 mechanical strabismus 10.3
2144 exudative vitreoretinopathy 1 10.3
2145 cardiovascular organ benign neoplasm 10.3 TP53 HIF1A AKT1
2146 neural tube defects 10.3
2147 cardiac arrest 10.3
2148 eating disorder 10.3
2149 dysphagia 10.3
2150 autosomal genetic disease 10.3 WRN TP53 LMNA AKT1
2151 astigmatism 10.3
2152 iron deficiency anemia 10.3
2153 retinal disease 10.3
2154