SAMES
MCID: TRG019
MIFTS: 32

Trigonocephaly with Short Stature and Developmental Delay (SAMES)

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Trigonocephaly with Short Stature and Developmental Delay

MalaCards integrated aliases for Trigonocephaly with Short Stature and Developmental Delay:

Name: Trigonocephaly with Short Stature and Developmental Delay 56
Say-Meyer Syndrome 56 74 52 58
Trigonocephaly-Short Stature-Developmental Delay Syndrome 52 58 6
Say Meyer Syndrome 52 71
Trigonocephaly, Short Stature, and Retarded Psychomotor Development 52
Say-Meyer Syndrome; Sames 56
Sames 56

Characteristics:

Orphanet epidemiological data:

58
trigonocephaly-short stature-developmental delay syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31
trigonocephaly with short stature and developmental delay:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Trigonocephaly with Short Stature and Developmental Delay

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3369 Definition Trigonocephaly-short stature -developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out. Visit the Orphanet disease page for more resources.

MalaCards based summary : Trigonocephaly with Short Stature and Developmental Delay, also known as say-meyer syndrome, is related to ankyloblepharon-ectodermal defects-cleft lip/palate and histiocytosis-lymphadenopathy plus syndrome, and has symptoms including seizures Affiliated tissues include bone, and related phenotypes are global developmental delay and short stature

Wikipedia : 74 Say-Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental... more...

More information from OMIM: 314320

Related Diseases for Trigonocephaly with Short Stature and Developmental Delay

Diseases related to Trigonocephaly with Short Stature and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3269, show less)
# Related Disease Score Top Affiliating Genes
1 ankyloblepharon-ectodermal defects-cleft lip/palate 11.3
2 histiocytosis-lymphadenopathy plus syndrome 11.3
3 spondyloarthropathy 1 11.3
4 griscelli syndrome 11.2
5 ichthyosis, congenital, autosomal recessive 1 11.2
6 herpes zoster 11.2
7 pulmonary fibrosis, idiopathic 11.2
8 traumatic brain injury 11.2
9 myotonic dystrophy 11.2
10 li-fraumeni syndrome 11.2
11 masa syndrome 11.2
12 cluster headache 11.2
13 hemicrania continua 11.2
14 dementia, lewy body 11.2
15 mitochondrial complex iv deficiency 11.2
16 spastic paraplegia 2, x-linked 11.2
17 exudative vitreoretinopathy 11.2
18 opitz-gbbb syndrome 11.2
19 psoriatic arthritis 11.1
20 polyneuropathy 11.1
21 multiple endocrine neoplasia, type iia 11.1
22 proteasome-associated autoinflammatory syndrome 1 11.1
23 holt-oram syndrome 11.1
24 trigeminal neuralgia 11.1
25 insulin-like growth factor i 11.1
26 adrenoleukodystrophy 11.1
27 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.1
28 wiskott-aldrich syndrome 11.1
29 aseptic meningitis 11.1
30 hereditary spastic paraplegia 11.1
31 acrocallosal syndrome 11.1
32 3-methylglutaconic aciduria, type iii 11.1
33 opioid addiction 11.1
34 cleidocranial dysplasia 11.1
35 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.1
36 ulnar-mammary syndrome 11.1
37 donnai-barrow syndrome 11.1
38 carbuncle 11.1
39 fainting 11.1
40 postherpetic neuralgia 11.1
41 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.0
42 kaposi sarcoma 11.0
43 breast cancer 11.0
44 alzheimer disease 11.0
45 systemic lupus erythematosus 11.0
46 branchiootic syndrome 1 11.0
47 keratoconus 11.0
48 leukemia, acute lymphoblastic 11.0
49 endocarditis 11.0
50 migraine with or without aura 1 11.0
51 astigmatism 11.0
52 mycosis fungoides 11.0
53 dilated cardiomyopathy 11.0
54 alcohol dependence 11.0
55 amyotrophic lateral sclerosis 1 11.0
56 rheumatoid arthritis 11.0
57 yemenite deaf-blind hypopigmentation syndrome 11.0
58 eating disorder 11.0
59 retinoblastoma 11.0
60 gastric cancer 11.0
61 pemphigus 11.0
62 hyperthyroidism 11.0
63 spinal muscular atrophy 11.0
64 bipolar disorder 11.0
65 schizophrenia 11.0
66 respiratory failure 11.0
67 brugada syndrome 11.0
68 rickets 11.0
69 leiomyosarcoma 11.0
70 limb-girdle muscular dystrophy 11.0
71 brain injury 11.0
72 hypotonia 11.0
73 gastrointestinal stromal tumor 11.0
74 alcohol use disorder 11.0
75 intrahepatic cholangiocarcinoma 11.0
76 bronchitis 11.0
77 syncope 11.0
78 esophagitis, eosinophilic, 1 11.0
79 brachydactyly 11.0
80 transient cerebral ischemia 11.0
81 hypertension, essential 11.0
82 temporal arteritis 11.0
83 erythema multiforme 11.0
84 epidermolysis bullosa dystrophica 11.0
85 aniridia 1 11.0
86 exudative vitreoretinopathy 1 11.0
87 digeorge syndrome 11.0
88 renal hypodysplasia/aplasia 1 11.0
89 ichthyosis, x-linked 11.0
90 severe cutaneous adverse reaction 11.0
91 juvenile arthritis 11.0
92 anaplastic large cell lymphoma 11.0
93 charcot-marie-tooth disease 11.0
94 post-traumatic stress disorder 11.0
95 narcolepsy 11.0
96 lichen planus 11.0
97 abdominal wall defect 11.0
98 acute liver failure 11.0
99 facioscapulohumeral muscular dystrophy 1 11.0
100 noonan syndrome 1 11.0
101 gitelman syndrome 11.0
102 rett syndrome 11.0
103 dengue virus 11.0
104 chikungunya 11.0
105 allergic contact dermatitis 11.0
106 crouzon syndrome 11.0
107 nail-patella syndrome 11.0
108 obsessive-compulsive disorder 11.0
109 silver-russell syndrome 1 11.0
110 laron syndrome 11.0
111 pendred syndrome 11.0
112 lysosomal acid lipase deficiency 11.0
113 ewing sarcoma 11.0
114 horner's syndrome 11.0
115 hereditary angioedema 11.0
116 pseudohermaphroditism 11.0
117 composite lymphoma 11.0
118 cold urticaria 11.0
119 hereditary hypophosphatemic rickets 11.0
120 cytomegalovirus infection 11.0
121 head injury 11.0
122 microtia 11.0
123 angelman syndrome 10.9
124 machado-joseph disease 10.9
125 episodic kinesigenic dyskinesia 1 10.9
126 rapp-hodgkin syndrome 10.9
127 melkersson-rosenthal syndrome 10.9
128 optic atrophy 1 10.9
129 hypokalemic periodic paralysis, type 1 10.9
130 tarsal coalition 10.9
131 cardiomyopathy, familial hypertrophic, 1 10.9
132 joubert syndrome 1 10.9
133 glycogen storage disease iv 10.9
134 glycogen storage disease v 10.9
135 myopathy, congenital 10.9
136 retinoschisis 1, x-linked, juvenile 10.9
137 common variable immunodeficiency 10.9
138 adult-onset still's disease 10.9
139 bardet-biedl syndrome 10.9
140 bursitis 10.9
141 food allergy 10.9
142 t-cell acute lymphoblastic leukemia 10.9
143 decubitus ulcer 10.9
144 neuromyelitis optica 10.9
145 waardenburg's syndrome 10.9
146 iniencephaly 10.9
147 psychogenic movement 10.9
148 apert syndrome 10.9
149 blepharophimosis, ptosis, and epicanthus inversus 10.9
150 fibrodysplasia ossificans progressiva 10.9
151 glioma susceptibility 1 10.9
152 heterochromia iridis 10.9
153 inclusion body myositis 10.9
154 kabuki syndrome 1 10.9
155 acrofacial dysostosis 1, nager type 10.9
156 moebius syndrome 10.9
157 cyclic neutropenia 10.9
158 nevus, epidermal 10.9
159 hemifacial microsomia 10.9
160 poland syndrome 10.9
161 muckle-wells syndrome 10.9
162 abetalipoproteinemia 10.9
163 tumoral calcinosis, hyperphosphatemic, familial, 1 10.9
164 griscelli syndrome, type 1 10.9
165 baller-gerold syndrome 10.9
166 cutis marmorata telangiectatica congenita 10.9
167 ellis-van creveld syndrome 10.9
168 fanconi anemia, complementation group c 10.9
169 baraitser-winter syndrome 1 10.9
170 kuru 10.9
171 marden-walker syndrome 10.9
172 microtia with meatal atresia and conductive deafness 10.9
173 myoclonic epilepsy of lafora 10.9
174 nephrotic syndrome, type 4 10.9
175 peters-plus syndrome 10.9
176 multiple pterygium syndrome, escobar variant 10.9
177 exstrophy of bladder 10.9
178 hypocalcemia, autosomal dominant 1 10.9
179 pseudohypoparathyroidism, type ib 10.9
180 phelan-mcdermid syndrome 10.9
181 spondyloenchondrodysplasia with immune dysregulation 10.9
182 nemaline myopathy 1 10.9
183 congenital anomalies of kidney and urinary tract 1 10.9
184 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 10.9
185 lennox-gastaut syndrome 10.9
186 ocular albinism 10.9
187 alternating hemiplegia of childhood 10.9
188 townes-brocks syndrome 10.9
189 dowling-degos disease 10.9
190 chromosome 16p11.2 deletion syndrome 10.9
191 amblyopia 10.9
192 dysthymic disorder 10.9
193 tinea pedis 10.9
194 vaginitis 10.9
195 orchitis 10.9
196 junctional epidermolysis bullosa 10.9
197 rhabdoid cancer 10.9
198 echolalia 10.9
199 epidermolysis bullosa simplex 10.9
200 optic nerve sheath meningioma 10.9
201 reticulosarcoma 10.9
202 autosomal dominant tubulointerstitial kidney disease, umod-related 10.9
203 progressive myoclonus epilepsy, lafora type 10.9
204 cerebro-oculo-facio-skeletal syndrome 10.9
205 chitayat meunier hodgkinson syndrome 10.9
206 hypnic headache 10.9
207 hereditary xanthinuria 10.9
208 hypertonia 10.9
209 juvenile polyposis syndrome 10.9
210 ichthyosis, congenital, autosomal recessive 2 10.9
211 ichthyosis, congenital, autosomal recessive 4a 10.9
212 ichthyosis, congenital, autosomal recessive 11 10.9
213 ichthyosis, congenital, autosomal recessive 5 10.9
214 ichthyosis, congenital, autosomal recessive 3 10.9
215 ichthyosis, congenital, autosomal recessive 6 10.9
216 ichthyosis, congenital, autosomal recessive 8 10.9
217 ichthyosis, congenital, autosomal recessive 9 10.9
218 ichthyosis, congenital, autosomal recessive 10 10.9
219 ichthyosis, congenital, autosomal recessive 12 10.9
220 saethre-chotzen syndrome 10.9
221 hajdu-cheney syndrome 10.9
222 cowden syndrome 1 10.9
223 sturge-weber syndrome 10.9
224 blau syndrome 10.9
225 epilepsy, familial focal, with variable foci 1 10.9
226 genitopatellar syndrome 10.9
227 mixed phenotype acute leukemia 10.9
228 biotin-thiamine-responsive basal ganglia disease 10.9
229 arthrogryposis, distal, type 1a 10.8
230 brachydactyly, type e1 10.8
231 central core disease of muscle 10.8
232 alagille syndrome 1 10.8
233 corneal dystrophy, posterior polymorphous, 1 10.8
234 dystonia 1, torsion, autosomal dominant 10.8
235 laurin-sandrow syndrome 10.8
236 keratolytic winter erythema 10.8
237 mirror movements 1 10.8
238 medullary cystic kidney disease 1 10.8
239 wilms tumor 1 10.8
240 congenital disorder of glycosylation, type ia 10.8
241 leukoencephalopathy, hereditary diffuse, with spheroids 10.8
242 cholestasis, benign recurrent intrahepatic, 1 10.8
243 epilepsy, progressive myoclonic, 4, with or without renal failure 10.8
244 alveolar capillary dysplasia with misalignment of pulmonary veins 10.8
245 spastic paraplegia 20, autosomal recessive 10.8
246 craniofrontonasal syndrome 10.8
247 hyperinsulinemic hypoglycemia, familial, 2 10.8
248 convulsions, familial infantile, with paroxysmal choreoathetosis 10.8
249 hyperaldosteronism, familial, type ii 10.8
250 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.8
251 chromosome 22q11.2 duplication syndrome 10.8
252 mandibulofacial dysostosis, guion-almeida type 10.8
253 invasive pneumococcal disease, recurrent isolated 10.8
254 chromosome 15q13.3 deletion syndrome 10.8
255 exudative vitreoretinopathy 5 10.8
256 ichthyosis, congenital, autosomal recessive 7 10.8
257 ichthyosis, congenital, autosomal recessive 14 10.8
258 ichthyosis, congenital, autosomal recessive 13 10.8
259 epilepsy, juvenile myoclonic 10 10.8
260 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 10.8
261 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 10.8
262 twin-to-twin transfusion syndrome 10.8
263 persistent mullerian duct syndrome 10.8
264 3mc syndrome 10.8
265 hennekam syndrome 10.8
266 hereditary sensory and autonomic neuropathy type 1 10.8
267 infantile myofibromatosis 10.8
268 prediabetes syndrome 10.8
269 diamond-blackfan anemia 10.8
270 noonan syndrome with multiple lentigines 10.8
271 atypical teratoid rhabdoid tumor 10.8
272 muscular dystrophy, duchenne and becker type 10.8
273 mitochondrial membrane protein-associated neurodegeneration 10.8
274 rab18 deficiency 10.8
275 alezzandrini syndrome 10.8
276 brain tumor, childhood 10.8
277 chromosome 20p deletion 10.8
278 cobb syndrome 10.8
279 familial thoracic aortic aneurysm and aortic dissection 10.8
280 infantile-onset ascending hereditary spastic paralysis 10.8
281 10q26 deletion syndrome 10.8
282 cask-related intellectual disability 10.8
283 mecp2-related severe neonatal encephalopathy 10.8
284 naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis 10.8
285 branchiootorenal/branchiootic syndrome 10.8
286 pituitary adenoma 1, multiple types 10.6
287 adie pupil 10.6
288 diamond-blackfan anemia 1 10.6
289 angel-shaped phalangoepiphyseal dysplasia 10.6
290 arthrogryposis, distal, type 5 10.6
291 brachydactyly, combined b and e types 10.6
292 brachydactyly, type a1 10.6
293 brachydactyly, type a2 10.6
294 brachydactyly, type a3 10.6
295 brachydactyly, type a4 10.6
296 osebold-remondini syndrome 10.6
297 brachydactyly, type b1 10.6
298 brachydactyly, type c 10.6
299 campomelic dysplasia 10.6
300 arthrogryposis, distal, type 3 10.6
301 van der woude syndrome 1 10.6
302 erythrokeratodermia variabilis et progressiva 1 10.6
303 cockayne syndrome b 10.6
304 adermatoglyphia 10.6
305 focal facial dermal dysplasia 1, brauer type 10.6
306 frontonasal dysplasia 1 10.6
307 renal cysts and diabetes syndrome 10.6
308 myhre syndrome 10.6
309 keratoderma, palmoplantar, with deafness 10.6
310 bart-pumphrey syndrome 10.6
311 larsen syndrome 10.6
312 hereditary leiomyomatosis and renal cell cancer 10.6
313 chromosome 9p deletion syndrome 10.6
314 feingold syndrome 1 10.6
315 optic atrophy 3, autosomal dominant 10.6
316 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 10.6
317 osseous heteroplasia, progressive 10.6
318 buschke-ollendorff syndrome 10.6
319 andersen cardiodysrhythmic periodic paralysis 10.6
320 porokeratosis 1, multiple types 10.6
321 porokeratosis 3, multiple types 10.6
322 porphyria cutanea tarda, type i 10.6
323 porphyria cutanea tarda 10.6
324 cerebral amyloid angiopathy, itm2b-related, 1 10.6
325 scalp-ear-nipple syndrome 10.6
326 smith-magenis syndrome 10.6
327 steatocystoma multiplex with natal teeth 10.6
328 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.6
329 synpolydactyly 1 10.6
330 tarsal-carpal coalition syndrome 10.6
331 thoracolaryngopelvic dysplasia 10.6
332 vitreoretinochoroidopathy 10.6
333 weyers acrofacial dysostosis 10.6
334 arthrogryposis, distal, type 2a 10.6
335 acrocephalopolydactylous dysplasia 10.6
336 carpenter syndrome 1 10.6
337 acyl-coa dehydrogenase, short-chain, deficiency of 10.6
338 arthrogryposis, renal dysfunction, and cholestasis 1 10.6
339 bietti crystalline corneoretinal dystrophy 10.6
340 microcephalic osteodysplastic primordial dwarfism, type i 10.6
341 palmoplantar keratoderma and congenital alopecia 2 10.6
342 cerebrooculofacioskeletal syndrome 1 10.6
343 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.6
344 cranioectodermal dysplasia 1 10.6
345 cystinosis, nephropathic 10.6
346 leigh syndrome, french canadian type 10.6
347 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.6
348 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.6
349 cleft lip/palate-ectodermal dysplasia syndrome 10.6
350 aicardi-goutieres syndrome 1 10.6
351 endocardial fibroelastosis 10.6
352 focal facial dermal dysplasia 3, setleis type 10.6
353 femur-fibula-ulna syndrome 10.6
354 myofibromatosis, infantile, 1 10.6
355 achalasia-addisonianism-alacrima syndrome 10.6
356 glycogen storage disease iii 10.6
357 holoprosencephaly 1 10.6
358 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy 10.6
359 woodhouse-sakati syndrome 10.6
360 vici syndrome 10.6
361 isotretinoin embryopathy-like syndrome 10.6
362 hyper-ige recurrent infection syndrome 2, autosomal recessive 10.6
363 ciliary dyskinesia, primary, 1 10.6
364 kaufman oculocerebrofacial syndrome 10.6
365 haim-munk syndrome 10.6
366 epilepsy, focal, with speech disorder and with or without mental retardation 10.6
367 chylomicron retention disease 10.6
368 manitoba oculotrichoanal syndrome 10.6
369 marinesco-sjogren syndrome 10.6
370 nijmegen breakage syndrome 10.6
371 pseudo-torch syndrome 1 10.6
372 desbuquois dysplasia 1 10.6
373 holocarboxylase synthetase deficiency 10.6
374 neurodegeneration with brain iron accumulation 2a 10.6
375 spermatogenic failure 1 10.6
376 rapadilino syndrome 10.6
377 senior-loken syndrome 1 10.6
378 retinohepatoendocrinologic syndrome 10.6
379 rothmund-thomson syndrome, type 2 10.6
380 autoimmune polyendocrine syndrome, type ii 10.6
381 spinocerebellar degeneration and corneal dystrophy 10.6
382 sulfite oxidase deficiency, isolated 10.6
383 gm2-gangliosidosis, ab variant 10.6
384 glanzmann thrombasthenia 10.6
385 mismatch repair cancer syndrome 10.6
386 mayer-rokitansky-kuster-hauser syndrome 10.6
387 wernicke-korsakoff syndrome 10.6
388 lissencephaly, x-linked, 1 10.6
389 adrenal hypoplasia, congenital 10.6
390 atkin-flaitz syndrome 10.6
391 cone-rod dystrophy, x-linked, 3 10.6
392 asperger syndrome, x-linked 1 10.6
393 asperger syndrome, x-linked 2 10.6
394 phosphoribosylpyrophosphate synthetase superactivity 10.6
395 ogden syndrome 10.6
396 neurodegeneration with brain iron accumulation 5 10.6
397 borjeson-forssman-lehmann syndrome 10.6
398 nance-horan syndrome 10.6
399 choroideremia 10.6
400 mohr-tranebjaerg syndrome 10.6
401 exudative vitreoretinopathy 2, x-linked 10.6
402 glycogen storage disease ixa1 10.6
403 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.6
404 immunodeficiency with hyper-igm, type 1 10.6
405 renpenning syndrome 1 10.6
406 partington x-linked mental retardation syndrome 10.6
407 linear skin defects with multiple congenital anomalies 1 10.6
408 norrie disease 10.6
409 ulnar hypoplasia with lobster-claw deformity of feet 10.6
410 cyclic vomiting syndrome 10.6
411 myoclonic epilepsy associated with ragged-red fibers 10.6
412 venous malformations, multiple cutaneous and mucosal 10.6
413 band heterotopia 10.6
414 hyperferritinemia with or without cataract 10.6
415 cardiac arrhythmia, ankyrin-b-related 10.6
416 brody myopathy 10.6
417 naxos disease 10.6
418 renal dysplasia, cystic 10.6
419 short stature syndrome, brussels type 10.6
420 facial paresis, hereditary congenital, 1 10.6
421 seizures, benign familial infantile, 1 10.6
422 exudative vitreoretinopathy 4 10.6
423 phosphoglycerate dehydrogenase deficiency 10.6
424 desmosterolosis 10.6
425 megalencephaly-capillary malformation-polymicrogyria syndrome 10.6
426 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 10.6
427 megalencephalic leukoencephalopathy with subcortical cysts 1 10.6
428 congenital cataracts, facial dysmorphism, and neuropathy 10.6
429 aceruloplasminemia 10.6
430 becker nevus syndrome 10.6
431 bohring-opitz syndrome 10.6
432 spinocerebellar ataxia 13 10.6
433 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 10.6
434 rippling muscle disease 2 10.6
435 diamond-blackfan anemia 2 10.6
436 hyperinsulinemic hypoglycemia, familial, 6 10.6
437 spinal muscular atrophy, distal, autosomal recessive, 3 10.6
438 microcephaly, amish type 10.6
439 epileptic encephalopathy, early infantile, 6 10.6
440 duane-radial ray syndrome 10.6
441 febrile seizures, familial, 8 10.6
442 charcot-marie-tooth disease, axonal, type 2k 10.6
443 capillary malformation-arteriovenous malformation 1 10.6
444 asperger syndrome 2 10.6
445 chromosome 15q11-q13 duplication syndrome 10.6
446 asperger syndrome 1 10.6
447 ciliary dyskinesia, primary, 3 10.6
448 spinocerebellar ataxia 20 10.6
449 asperger syndrome 3 10.6
450 emanuel syndrome 10.6
451 syncope, familial vasovagal 10.6
452 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations 10.6
453 asperger syndrome 4 10.6
454 corneal dystrophy, congenital stromal 10.6
455 microphthalmia, syndromic 5 10.6
456 camptodactyly, tall stature, and hearing loss syndrome 10.6
457 diamond-blackfan anemia 3 10.6
458 telangiectasia, hereditary hemorrhagic, type 4 10.6
459 pitt-hopkins syndrome 10.6
460 corticosteroid-binding globulin deficiency 10.6
461 ciliary dyskinesia, primary, 7 10.6
462 cerebroretinal microangiopathy with calcifications and cysts 1 10.6
463 crouzon syndrome with acanthosis nigricans 10.6
464 spastic paraplegia 35, autosomal recessive 10.6
465 ciliary dyskinesia, primary, 9 10.6
466 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.6
467 chromosome 1q21.1 duplication syndrome 10.6
468 diamond-blackfan anemia 4 10.6
469 diamond-blackfan anemia 5 10.6
470 diamond-blackfan anemia 6 10.6
471 diamond-blackfan anemia 7 10.6
472 diamond-blackfan anemia 8 10.6
473 spondyloepimetaphyseal dysplasia, aggrecan type 10.6
474 diamond-blackfan anemia 9 10.6
475 diamond-blackfan anemia 10 10.6
476 brachydactyly, type e2 10.6
477 chromosome 16p13.3 duplication syndrome 10.6
478 chromosome 17q12 duplication syndrome 10.6
479 leukoencephalopathy, brain calcifications, and cysts 10.6
480 porokeratosis 7, multiple types 10.6
481 adenine phosphoribosyltransferase deficiency 10.6
482 autoinflammation, antibody deficiency, and immune dysregulation 10.6
483 diamond-blackfan anemia 11 10.6
484 focal facial dermal dysplasia 2, brauer-setleis type 10.6
485 telangiectasia, hereditary hemorrhagic, type 5 10.6
486 diamond-blackfan anemia 12 10.6
487 asparagine synthetase deficiency 10.6
488 helsmoortel-van der aa syndrome 10.6
489 blood group, gerbich system 10.6
490 ruijs-aalfs syndrome 10.6
491 chronic atrial and intestinal dysrhythmia 10.6
492 exudative vitreoretinopathy 6 10.6
493 immunodeficiency, common variable, 12 10.6
494 porokeratosis 9, multiple types 10.6
495 yuan-harel-lupski syndrome 10.6
496 short-rib thoracic dysplasia 15 with polydactyly 10.6
497 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 10.6
498 rahman syndrome 10.6
499 exudative vitreoretinopathy 7 10.6
500 tumoral calcinosis, hyperphosphatemic, familial, 2 10.6
501 tumoral calcinosis, hyperphosphatemic, familial, 3 10.6
502 menke-hennekam syndrome 1 10.6
503 menke-hennekam syndrome 2 10.6
504 pontiac fever 10.6
505 loeys-dietz syndrome 10.6
506 primary cutaneous amyloidosis 10.6
507 cone dystrophy 10.6
508 hemidystonia 10.6
509 bruck syndrome 10.6
510 pontocerebellar hypoplasia 10.6
511 cold-induced sweating syndrome 10.6
512 primary autosomal recessive microcephaly 10.6
513 x-linked chondrodysplasia punctata 2 10.6
514 oligomeganephronia 10.6
515 isolated ectopia lentis 10.6
516 large congenital melanocytic nevus 10.6
517 cysticercosis 10.6
518 cystinosis 10.6
519 salivary gland disease 10.6
520 fourth cranial nerve palsy 10.6
521 presbyopia 10.6
522 conjugate gaze palsy 10.6
523 ocular motility disease 10.6
524 mixed malaria 10.6
525 centronuclear myopathy 10.6
526 cecal disease 10.6
527 conversion disorder 10.6
528 paratyphoid fever 10.6
529 photoallergic dermatitis 10.6
530 melorheostosis 10.6
531 colorado tick fever 10.6
532 breast secretory carcinoma 10.6
533 postpoliomyelitis syndrome 10.6
534 anterograde amnesia 10.6
535 hereditary breast ovarian cancer syndrome 10.6
536 brown-sequard syndrome 10.6
537 erythema infectiosum 10.6
538 aphthous stomatitis 10.6
539 xp11.2 duplication 10.6
540 17q12 recurrent deletion syndrome 10.6
541 bap1 tumor predisposition syndrome 10.6
542 dicer1 tumor predisposition 10.6
543 flna-related periventricular nodular heterotopia 10.6
544 familial paroxysmal nonkinesigenic dyskinesia 10.6
545 ocular albinism, x-linked 10.6
546 polr3-related leukodystrophy 10.6
547 stac3 disorder 10.6
548 tubb4a-related leukodystrophy 10.6
549 unc80 deficiency 10.6
550 x-linked congenital stationary night blindness 10.6
551 zellweger spectrum disorder 10.6
552 16p11.2 duplication 10.6
553 acute flaccid myelitis 10.6
554 atypical werner syndrome 10.6
555 auriculo-condylar syndrome 10.6
556 autoimmune polyglandular syndrome type 3 10.6
557 c1q nephropathy 10.6
558 chromosome 10p deletion 10.6
559 chromosome 18p duplication 10.6
560 chromosome 6q duplication 10.6
561 chromosome 8p23.1 deletion 10.6
562 chromosome 9 inversion 10.6
563 congenital herpes simplex 10.6
564 congenital intrauterine infection-like syndrome 10.6
565 craniofacial microsomia 10.6
566 cytomegalic inclusion disease 10.6
567 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 10.6
568 familial isolated pituitary adenoma 10.6
569 hivep2-related intellectual disability 10.6
570 hypocomplementemic urticarial vasculitis 10.6
571 madras motor neuron disease 10.6
572 magic syndrome 10.6
573 meacham winn culler syndrome 10.6
574 methionine adenosyltransferase deficiency 10.6
575 neurosyphilis 10.6
576 oguchi disease 10.6
577 parkes weber syndrome 10.6
578 pityriasis rotunda 10.6
579 reducing body myopathy 10.6
580 rud syndrome 10.6
581 scn1a-related seizure disorders 10.6
582 undifferentiated connective tissue disease 10.6
583 x-linked intellectual disability, schimke type 10.6
584 16p12.2 microdeletion 10.6
585 19p13.13 deletion syndrome 10.6
586 8p11 myeloproliferative syndrome 10.6
587 alg1-congenital disorder of glycosylation 10.6
588 alg6-congenital disorder of glycosylation 10.6
589 grn-related frontotemporal lobar degeneration 10.6
590 huntington disease-like syndrome 10.6
591 pgm3-congenital disorder of glycosylation 10.6
592 x-linked infantile nystagmus 10.6
593 autosomal recessive congenital stationary night blindness 10.6
594 collagen vi-related myopathy 10.6
595 complement component 8 deficiency 10.6
596 farsightedness 10.6
597 nonsyndromic holoprosencephaly 10.6
598 floppy infant syndrome 10.6
599 infantile hypotonia 10.6
600 korsakoff's amnesic syndrome 10.6
601 mini stroke 10.6
602 neurological consequences of cytomegalovirus infection 10.6
603 neuronal migration disorders 10.6
604 paroxysmal choreoathetosis 10.6
605 vasculitis syndromes of the central and peripheral nervous systems 10.6
606 tetragametic chimerism 10.6
607 pituicytoma 10.6
608 partial deletion of the long arm of chromosome 15 10.6
609 cocaine intoxication 10.6
610 dysphagia lusoria 10.6
611 synostosis 10.3
612 mental retardation, x-linked, syndromic, turner type 10.2
613 alacrima, achalasia, and mental retardation syndrome 10.2
614 autism spectrum disorder 10.2
615 x-linked intellectual disability, turner type 10.2
616 lymphoma 10.2
617 adenoma 10.1
618 cataract 10.1
619 thyroid carcinoma 10.1
620 renal cell carcinoma, nonpapillary 10.1
621 adenocarcinoma 10.1
622 47,xyy 10.1
623 chromosomal triplication 10.1
624 depression 10.1
625 diarrhea 10.0
626 kidney disease 10.0
627 autism 10.0
628 aneurysm 10.0
629 autoimmune disease 10.0
630 meningioma, familial 10.0
631 meningioma, radiation-induced 10.0
632 spinal meningioma 10.0
633 secretory meningioma 10.0
634 lymphoplasmacyte-rich meningioma 10.0
635 atrial standstill 1 10.0
636 pustulosis of palm and sole 10.0
637 appendicitis 10.0
638 myeloid leukemia 10.0
639 psoriasis 10.0
640 colorectal cancer 10.0
641 pertussis 10.0
642 neutropenia 10.0
643 leukemia 10.0
644 leukemia, chronic lymphocytic 10.0
645 sarcoidosis 1 10.0
646 lymphoma, hodgkin, classic 10.0
647 ataxia and polyneuropathy, adult-onset 10.0
648 allergic hypersensitivity disease 10.0
649 congestive heart failure 10.0
650 liver cirrhosis 10.0
651 osteoarthritis 10.0
652 human immunodeficiency virus type 1 10.0
653 periodontitis 10.0
654 lung disease 10.0
655 myeloma, multiple 10.0
656 thrombocytopenia 10.0
657 in situ carcinoma 10.0
658 muscular dystrophy 10.0
659 myocardial infarction 10.0
660 hepatitis c virus 10.0
661 helix syndrome 10.0
662 atrial fibrillation 10.0
663 purpura 10.0
664 syphilis 10.0
665 b-cell lymphoma 10.0
666 end stage renal disease 10.0
667 crohn's disease 10.0
668 graft-versus-host disease 10.0
669 pain agnosia 10.0
670 tetanus 10.0
671 diphtheria 10.0
672 melanoma 10.0
673 glioblastoma multiforme 10.0
674 ischemia 10.0
675 liver disease 10.0
676 endophthalmitis 10.0
677 seizure disorder 10.0
678 lung cancer 9.9
679 visual epilepsy 9.9
680 myopathy 9.9
681 lupus erythematosus 9.9
682 hypoglycemia 9.9
683 hypercholesterolemia, familial, 1 9.9
684 ovarian cancer 9.9
685 sarcoma 9.9
686 spindle cell sarcoma 9.9
687 rhinitis 9.9
688 chickenpox 9.9
689 neuropathy 9.9
690 neurofibromatosis 9.9
691 bladder cancer 9.9
692 attention deficit-hyperactivity disorder 9.9
693 aging 9.9
694 leukemia, acute myeloid 9.9
695 allergic rhinitis 9.9
696 scoliosis 9.9
697 arteriovenous malformation 9.9
698 heart disease 9.9
699 keratosis 9.9
700 squamous cell carcinoma 9.9
701 hepatitis c 9.9
702 down syndrome 9.9
703 lymphoma, non-hodgkin, familial 9.9
704 pulmonary disease, chronic obstructive 9.9
705 autosomal recessive disease 9.9
706 colitis 9.9
707 covid-19 9.9
708 hypertrophic cardiomyopathy 9.9
709 dementia 9.9
710 hyperparathyroidism 9.9
711 mental depression 9.9
712 papilloma 9.9
713 pulmonary tuberculosis 9.9
714 herpes simplex 9.9
715 intermediate coronary syndrome 9.9
716 meningitis 9.9
717 pulmonary embolism 9.9
718 48,xyyy 9.9
719 haemophilus influenzae 9.9
720 pheochromocytoma 9.9
721 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
722 leprosy 3 9.9
723 osteogenic sarcoma 9.9
724 exanthem 9.9
725 adrenal gland pheochromocytoma 9.9
726 thalassemia 9.9
727 chlamydia 9.9
728 acute cystitis 9.9
729 disease of mental health 9.9
730 basal cell carcinoma 9.9
731 endometriosis 9.9
732 substance abuse 9.9
733 hansen's disease 9.9
734 glial tumor 9.9
735 osteoporosis 9.9
736 otitis media 9.9
737 macular degeneration, age-related, 1 9.9
738 anxiety 9.9
739 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
740 hyperlipoproteinemia, type iii 9.9
741 lipoprotein quantitative trait locus 9.9
742 inguinal hernia 9.9
743 inflammatory spondylopathy 9.9
744 dermatitis 9.9
745 systemic scleroderma 9.9
746 hemolytic anemia 9.9
747 spondylitis 9.9
748 chronic kidney disease 9.9
749 measles 9.9
750 amyloidosis 9.9
751 dysphagia 9.9
752 headache 9.9
753 thrombophilia due to thrombin defect 9.9
754 myasthenia gravis 9.9
755 endometrial cancer 9.9
756 major depressive disorder 9.9
757 bone mineral density quantitative trait locus 8 9.9
758 bone mineral density quantitative trait locus 15 9.9
759 cardiac arrest 9.9
760 cholecystitis 9.9
761 cerebral palsy 9.9
762 constipation 9.9
763 teratoma 9.9
764 histiocytosis 9.9
765 neuroblastoma 9.9
766 ulcerative colitis 9.9
767 glioma 9.9
768 arteries, anomalies of 9.9
769 retinal detachment 9.9
770 ocular motor apraxia 9.9
771 body mass index quantitative trait locus 1 9.9
772 coronary heart disease 1 9.9
773 melanoma, cutaneous malignant 10 9.9
774 thrombosis 9.9
775 esophagitis 9.9
776 plica syndrome 9.9
777 acute leukemia 9.9
778 tuberous sclerosis 9.9
779 squamous cell papilloma 9.9
780 hypothyroidism 9.9
781 duodenal ulcer 9.9
782 dental caries 9.9
783 lateral sclerosis 9.9
784 transitional cell carcinoma 9.9
785 synovitis 9.9
786 astrocytoma 9.9
787 neurilemmoma 9.9
788 movement disease 9.9
789 poliomyelitis 9.9
790 vasculitis 9.9
791 fatty liver disease 9.9
792 encephalopathy 9.9
793 thyroid cancer, nonmedullary, 1 9.8
794 cystic fibrosis 9.8
795 cervical cancer 9.8
796 kala-azar 1 9.8
797 intraocular pressure quantitative trait locus 9.8
798 myelodysplastic syndrome 9.8
799 joint laxity, short stature, and myopia 9.8
800 open-angle glaucoma 9.8
801 myopia 9.8
802 urticaria 9.8
803 pneumothorax 9.8
804 vascular disease 9.8
805 gastroenteritis 9.8
806 pulmonary fibrosis 9.8
807 pancreatitis 9.8
808 muscular atrophy 9.8
809 leishmaniasis 9.8
810 alopecia 9.8
811 tremor 9.8
812 small cell cancer of the lung 9.8
813 pancreatic cancer 9.8
814 inflammatory bowel disease 9.8
815 follicular lymphoma 9.8
816 neuroretinitis 9.8
817 pre-eclampsia 9.8
818 goiter 9.8
819 hemangioma 9.8
820 glomerulonephritis 9.8
821 vaccinia 9.8
822 retinitis 9.8
823 hypereosinophilic syndrome 9.8
824 chronic pain 9.8
825 hepatocellular carcinoma 9.8
826 neural tube defects 9.8
827 triiodothyronine receptor auxiliary protein 9.8
828 retinitis pigmentosa 9.8
829 dermatitis, atopic 9.8
830 anorexia nervosa 9.8
831 deficiency anemia 9.8
832 choledocholithiasis 9.8
833 gout 9.8
834 heart septal defect 9.8
835 ichthyosis 9.8
836 familial retinoblastoma 9.8
837 acquired immunodeficiency syndrome 9.8
838 peritonitis 9.8
839 stomatitis 9.8
840 back pain 9.8
841 spasticity 9.8
842 spinal cord injury 9.8
843 cardiac conduction defect 9.8
844 thyroid carcinoma, familial medullary 9.8
845 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8
846 thymoma, familial 9.8
847 helicobacter pylori infection 9.8
848 gallbladder disease 1 9.8
849 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
850 leukemia, chronic myeloid 9.8
851 angina pectoris 9.8
852 ductal carcinoma in situ 9.8
853 idiopathic scoliosis 9.8
854 cholelithiasis 9.8
855 hydrocephalus 9.8
856 pyelonephritis 9.8
857 telangiectasis 9.8
858 familial hypercholesterolemia 9.8
859 cholera 9.8
860 impotence 9.8
861 cystic teratoma 9.8
862 acute pancreatitis 9.8
863 lipid metabolism disorder 9.8
864 rhabdomyosarcoma 9.8
865 thymoma 9.8
866 angiomyolipoma 9.8
867 thyroid gland medullary carcinoma 9.8
868 mouth disease 9.8
869 macular retinal edema 9.8
870 mature teratoma 9.8
871 paraplegia 9.8
872 fibromyalgia 9.8
873 thyroiditis 9.8
874 peptic ulcer disease 9.8
875 cleft lip 9.8
876 acute myocardial infarction 9.8
877 cholangitis 9.8
878 hemophilia 9.8
879 splenomegaly 9.8
880 gastroesophageal reflux 9.8
881 hair whorl 9.8
882 celiac disease 1 9.8
883 brittle bone disorder 9.8
884 major affective disorder 8 9.8
885 major affective disorder 9 9.8
886 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
887 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.8
888 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.8
889 diffuse large b-cell lymphoma 9.8
890 sleep apnea 9.8
891 aphasia 9.8
892 microcephaly 9.8
893 mitral valve insufficiency 9.8
894 leiomyoma 9.8
895 ectodermal dysplasia 9.8
896 benign mesothelioma 9.8
897 epidermolysis bullosa 9.8
898 bronchiolitis 9.8
899 severe acute respiratory syndrome 9.8
900 acute kidney failure 9.8
901 infertility 9.8
902 dystonia 9.8
903 cervix uteri carcinoma in situ 9.8
904 encephalitis 9.8
905 refractive error 9.8
906 cervical intraepithelial neoplasia 9.8
907 rapidly involuting congenital hemangioma 9.8
908 neurofibromatosis, type ii 9.8
909 pfeiffer syndrome 9.8
910 burkitt lymphoma 9.8
911 hand skill, relative 9.8
912 scleroderma, familial progressive 9.8
913 varicose veins 9.8
914 body mass index quantitative trait locus 11 9.8
915 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.8
916 kawasaki disease 9.8
917 lung cancer susceptibility 3 9.8
918 peripheral vascular disease 9.8
919 fibroma 9.8
920 non-alcoholic fatty liver disease 9.8
921 benign teratoma 9.8
922 sensorineural hearing loss 9.8
923 prostatic hypertrophy 9.8
924 nephrotic syndrome 9.8
925 cholestasis 9.8
926 ventricular septal defect 9.8
927 epilepsy 9.8
928 hepatitis b 9.8
929 antiphospholipid syndrome 9.8
930 multiple endocrine neoplasia 9.8
931 mood disorder 9.8
932 pituitary adenoma 9.8
933 hyperglycemia 9.8
934 dyslexia 9.8
935 human immunodeficiency virus infectious disease 9.8
936 peripheral nervous system disease 9.8
937 severe combined immunodeficiency 9.8
938 influenza 9.8
939 arthritis 9.8
940 chronic fatigue syndrome 9.8
941 hypoxia 9.8
942 atherosclerosis susceptibility 9.7
943 creutzfeldt-jakob disease 9.7
944 lipomatosis, multiple 9.7
945 medulloblastoma 9.7
946 scoliosis, isolated 1 9.7
947 immune deficiency disease 9.7
948 oncocytoma 9.7
949 asthma 9.7
950 beta-thalassemia 9.7
951 mucopolysaccharidosis-plus syndrome 9.7
952 pulmonary hypertension 9.7
953 osteonecrosis 9.7
954 primary hyperparathyroidism 9.7
955 chagas disease 9.7
956 hereditary spherocytosis 9.7
957 eclampsia 9.7
958 amenorrhea 9.7
959 personality disorder 9.7
960 hyperinsulinism 9.7
961 fibrosarcoma 9.7
962 skin carcinoma 9.7
963 arthropathy 9.7
964 conjunctivitis 9.7
965 diverticulitis 9.7
966 polycythemia 9.7
967 localized scleroderma 9.7
968 bullous pemphigoid 9.7
969 pik3ca-related overgrowth syndrome 9.7
970 overgrowth syndrome 9.7
971 achondroplasia 9.7
972 fibrosis of extraocular muscles, congenital, 1 9.7
973 chromosome 2q35 duplication syndrome 9.7
974 chondrosarcoma 9.7
975 periodontitis, chronic 9.7
976 prostatic hyperplasia, benign 9.7
977 aplastic anemia 9.7
978 microvascular complications of diabetes 5 9.7
979 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
980 cholangiocarcinoma 9.7
981 ptosis 9.7
982 salmonellosis 9.7
983 bone disease 9.7
984 bone resorption disease 9.7
985 nephroma 9.7
986 aortic dissection 9.7
987 hypogonadotropic hypogonadism 9.7
988 osteomyelitis 9.7
989 pleomorphic lipoma 9.7
990 bacterial infectious disease 9.7
991 meningocele 9.7
992 cholesteatoma of middle ear 9.7
993 graves' disease 9.7
994 von willebrand's disease 9.7
995 hemolytic-uremic syndrome 9.7
996 uveitis 9.7
997 niemann-pick disease 9.7
998 candidiasis 9.7
999 rectum cancer 9.7
1000 autoimmune hepatitis 9.7
1001 acromegaly 9.7
1002 agammaglobulinemia 9.7
1003 prostatic adenoma 9.7
1004 mammary paget's disease 9.7
1005 pancreatic ductal adenocarcinoma 9.7
1006 aortic aneurysm 9.7
1007 lynch syndrome 9.7
1008 gastritis 9.7
1009 seminoma 9.7
1010 hypokalemia 9.7
1011 nephrolithiasis 9.7
1012 compartment syndrome 9.7
1013 t-cell lymphoblastic leukemia/lymphoma 9.7
1014 scarlet fever 9.7
1015 skin melanoma 9.7
1016 irritable bowel syndrome 9.7
1017 albinism 9.7
1018 leukemia, t-cell, chronic 9.7
1019 cerebral aneurysms 9.7
1020 argyria 9.7
1021 carpal tunnel syndrome 9.7
1022 multiple sclerosis 9.7
1023 erythroleukemia, familial 9.7
1024 esophageal cancer 9.7
1025 glaucoma, primary open angle 9.7
1026 melanoma, uveal 9.7
1027 myositis 9.7
1028 parkinson disease, late-onset 9.7
1029 pernicious anemia 9.7
1030 peutz-jeghers syndrome 9.7
1031 currarino syndrome 9.7
1032 pelvic organ prolapse 9.7
1033 strabismus 9.7
1034 tuberous sclerosis 1 9.7
1035 suppressor of tumorigenicity 3 9.7
1036 lipoid congenital adrenal hyperplasia 9.7
1037 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
1038 papillon-lefevre syndrome 9.7
1039 fragile x syndrome 9.7
1040 hemophilia a 9.7
1041 frontotemporal dementia 9.7
1042 body mass index quantitative trait locus 9 9.7
1043 body mass index quantitative trait locus 8 9.7
1044 polydactyly 9.7
1045 langerhans cell histiocytosis 9.7
1046 body mass index quantitative trait locus 4 9.7
1047 body mass index quantitative trait locus 10 9.7
1048 body mass index quantitative trait locus 7 9.7
1049 body mass index quantitative trait locus 12 9.7
1050 body mass index quantitative trait locus 14 9.7
1051 body mass index quantitative trait locus 18 9.7
1052 body mass index quantitative trait locus 19 9.7
1053 body mass index quantitative trait locus 20 9.7
1054 small cell carcinoma 9.7
1055 marginal zone b-cell lymphoma 9.7
1056 sexual disorder 9.7
1057 collagenous colitis 9.7
1058 ectopic pregnancy 9.7
1059 lymphoproliferative syndrome 9.7
1060 lymphoblastic lymphoma 9.7
1061 mucositis 9.7
1062 mastitis 9.7
1063 hydronephrosis 9.7
1064 hemopericardium 9.7
1065 polycystic ovary syndrome 9.7
1066 lyme disease 9.7
1067 pericardial effusion 9.7
1068 cryptococcosis 9.7
1069 otosclerosis 9.7
1070 pancytopenia 9.7
1071 nephrocalcinosis 9.7
1072 facial paralysis 9.7
1073 echinococcosis 9.7
1074 rheumatic fever 9.7
1075 hyperostosis 9.7
1076 myeloproliferative neoplasm 9.7
1077 iron metabolism disease 9.7
1078 kidney cancer 9.7
1079 contact dermatitis 9.7
1080 pyoderma 9.7
1081 fibrous histiocytoma 9.7
1082 scrapie 9.7
1083 hemoglobinuria 9.7
1084 anthrax disease 9.7
1085 myocarditis 9.7
1086 subacute delirium 9.7
1087 achalasia 9.7
1088 mechanical strabismus 9.7
1089 intracranial hypertension 9.7
1090 toxoplasmosis 9.7
1091 encephalocele 9.7
1092 germ cells tumors 9.7
1093 cleft lip/palate 9.7
1094 aortic aneurysm, familial abdominal, 1 9.7
1095 coloboma of macula 9.7
1096 lymphoma, mucosa-associated lymphoid type 9.7
1097 hypertriglyceridemia, familial 9.7
1098 volvulus of midgut 9.7
1099 phenylketonuria 9.7
1100 polycythemia vera 9.7
1101 arts syndrome 9.7
1102 incontinentia pigmenti 9.7
1103 wilms tumor 5 9.7
1104 bulimia nervosa 9.7
1105 mycobacterium tuberculosis 1 9.7
1106 fatty liver disease, nonalcoholic 1 9.7
1107 barrett esophagus 9.7
1108 leptin deficiency or dysfunction 9.7
1109 chorea, childhood-onset, with psychomotor retardation 9.7
1110 familial adenomatous polyposis 9.7
1111 adult t-cell leukemia 9.7
1112 apraxia 9.7
1113 stuttering 9.7
1114 paroxysmal nocturnal hemoglobinuria 9.7
1115 fibrous dysplasia 9.7
1116 polycystic kidney disease 9.7
1117 urolithiasis 9.7
1118 dermatomyositis 9.7
1119 gastric ulcer 9.7
1120 corneal edema 9.7
1121 brucellosis 9.7
1122 gestational diabetes 9.7
1123 low compliance bladder 9.7
1124 primary biliary cirrhosis 9.7
1125 pyloric stenosis 9.7
1126 acoustic neuroma 9.7
1127 guillain-barre syndrome 9.7
1128 choreatic disease 9.7
1129 typhoid fever 9.7
1130 toxic shock syndrome 9.7
1131 azoospermia 9.7
1132 gonadal dysgenesis 9.7
1133 angioedema 9.7
1134 neuroendocrine tumor 9.7
1135 optic nerve disease 9.7
1136 malignant fibrous histiocytoma 9.7
1137 gaucher's disease 9.7
1138 focal epilepsy 9.7
1139 glycogen storage disease 9.7
1140 bronchiolitis obliterans 9.7
1141 long qt syndrome 9.7
1142 cystic kidney disease 9.7
1143 testicular cancer 9.7
1144 gingivitis 9.7
1145 papillary carcinoma 9.7
1146 bone inflammation disease 9.7
1147 liposarcoma 9.7
1148 granuloma annulare 9.7
1149 carcinosarcoma 9.7
1150 panic disorder 9.7
1151 connective tissue disease 9.7
1152 cerebrovascular disease 9.7
1153 rosacea 9.7
1154 exophthalmos 9.7
1155 diabetes insipidus 9.7
1156 neurofibroma 9.7
1157 pathologic nystagmus 9.7
1158 broken heart syndrome 9.7
1159 chronic graft versus host disease 9.7
1160 erythrokeratoderma ''en cocardes'' 9.7
1161 fibromatosis 9.7
1162 lymphomatoid papulosis 9.7
1163 raynaud phenomenon 9.7
1164 angiomatosis 9.7
1165 febrile seizures 9.7
1166 posttransplant acute limbic encephalitis 9.7
1167 fixed drug eruption 9.7
1168 aortic valve disease 1 9.6
1169 progressive familial heart block, type ia 9.6
1170 cleft palate, isolated 9.6
1171 keratitis, hereditary 9.6
1172 marfan syndrome 9.6
1173 prostate cancer 9.6
1174 tobacco addiction 9.6
1175 von hippel-lindau syndrome 9.6
1176 anencephaly 9.6
1177 takayasu arteritis 9.6
1178 ataxia-telangiectasia 9.6
1179 gastroschisis 9.6
1180 sudden infant death syndrome 9.6
1181 wilson disease 9.6
1182 fabry disease 9.6
1183 muscular dystrophy, duchenne type 9.6
1184 kearns-sayre syndrome 9.6
1185 stroke, ischemic 9.6
1186 ossification of the posterior longitudinal ligament of spine 9.6
1187 ventricular fibrillation, paroxysmal familial, 1 9.6
1188 lymphangioleiomyomatosis 9.6
1189 nasopharyngeal carcinoma 9.6
1190 ovarian hyperstimulation syndrome 9.6
1191 malaria 9.6
1192 smoking as a quantitative trait locus 3 9.6
1193 human herpesvirus 8 9.6
1194 leukemia, acute lymphoblastic 3 9.6
1195 hemophagocytic lymphohistiocytosis 9.6
1196 restless legs syndrome 9.6
1197 oculocutaneous albinism 9.6
1198 peripheral t-cell lymphoma 9.6
1199 atrioventricular block 9.6
1200 adrenal cortical adenoma 9.6
1201 pollen allergy 9.6
1202 non-alcoholic steatohepatitis 9.6
1203 silicosis 9.6
1204 thrombotic thrombocytopenic purpura 9.6
1205 kuhnt-junius degeneration 9.6
1206 tooth disease 9.6
1207 intracranial aneurysm 9.6
1208 hemiplegia 9.6
1209 rabies 9.6
1210 pulmonary edema 9.6
1211 neonatal diabetes mellitus 9.6
1212 clubfoot 9.6
1213 hepatic coma 9.6
1214 carotid stenosis 9.6
1215 peptic esophagitis 9.6
1216 panniculitis 9.6
1217 lymphadenitis 9.6
1218 neuroendocrine carcinoma 9.6
1219 neuritis 9.6
1220 giant cell reparative granuloma 9.6
1221 viral hepatitis 9.6
1222 enthesopathy 9.6
1223 thrombocytosis 9.6
1224 ankylosis 9.6
1225 leptospirosis 9.6
1226 colon adenocarcinoma 9.6
1227 cystadenoma 9.6
1228 iga glomerulonephritis 9.6
1229 interstitial lung disease 9.6
1230 serous cystadenocarcinoma 9.6
1231 temporal lobe epilepsy 9.6
1232 turner syndrome 9.6
1233 skin disease 9.6
1234 plasmacytoma 9.6
1235 pancreatic adenocarcinoma 9.6
1236 biliary dyskinesia 9.6
1237 essential tremor 9.6
1238 ovarian cyst 9.6
1239 eye disease 9.6
1240 acute stress disorder 9.6
1241 renal oncocytoma 9.6
1242 juvenile rheumatoid arthritis 9.6
1243 intestinal obstruction 9.6
1244 pyoderma gangrenosum 9.6
1245 learning disability 9.6
1246 visceral leishmaniasis 9.6
1247 postpartum depression 9.6
1248 alopecia areata 9.6
1249 bronchopulmonary dysplasia 9.6
1250 cerebrospinal fluid leak 9.6
1251 dwarfism 9.6
1252 homologous wasting disease 9.6
1253 polymyositis 9.6
1254 semantic dementia 9.6
1255 soft tissue sarcoma 9.6
1256 myoclonus 9.6
1257 myotonia 9.6
1258 paresthesia 9.6
1259 periodic paralysis 9.6
1260 erythema multiforme major 9.6
1261 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 9.6
1262 thrombotic microangiopathy 9.6
1263 cardiac arrhythmia 9.6
1264 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.6
1265 gilbert syndrome 9.6
1266 hypertelorism 9.6
1267 ige responsiveness, atopic 9.6
1268 legg-calve-perthes disease 9.6
1269 lichen sclerosus et atrophicus 9.6
1270 mesothelioma, malignant 9.6
1271 papillomatosis, confluent and reticulated 9.6
1272 benign chronic pemphigus 9.6
1273 pemphigus vulgaris, familial 9.6
1274 polykaryocytosis inducer 9.6
1275 schistosoma mansoni infection, susceptibility/ 9.6
1276 syringomyelia, noncommunicating isolated 9.6
1277 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.6
1278 diabetes mellitus, type i 9.6
1279 enterocolitis 9.6
1280 glycogen storage disease ii 9.6
1281 hemochromatosis, type 1 9.6
1282 hemolytic uremic syndrome, atypical 1 9.6
1283 familial mediterranean fever 9.6
1284 myelofibrosis 9.6
1285 niemann-pick disease, type c1 9.6
1286 osteoid osteoma 9.6
1287 dysphasia, familial developmental 9.6
1288 pituitary adenoma, prolactin-secreting 9.6
1289 alpha-thalassemia 9.6
1290 orthostatic intolerance 9.6
1291 patent ductus arteriosus 1 9.6
1292 acute promyelocytic leukemia 9.6
1293 microvascular complications of diabetes 3 9.6
1294 microvascular complications of diabetes 4 9.6
1295 microvascular complications of diabetes 6 9.6
1296 microvascular complications of diabetes 7 9.6
1297 aspergillosis 9.6
1298 alkuraya-kucinskas syndrome 9.6
1299 congenital hypothyroidism 9.6
1300 mantle cell lymphoma 9.6
1301 metabolic acidosis 9.6
1302 sinoatrial node disease 9.6
1303 infective endocarditis 9.6
1304 lymphocytic colitis 9.6
1305 specific language impairment 9.6
1306 gallbladder disease 9.6
1307 myelomeningocele 9.6
1308 omphalocele 9.6
1309 venous insufficiency 9.6
1310 aortic atherosclerosis 9.6
1311 meningoencephalitis 9.6
1312 leukodystrophy 9.6
1313 microphthalmia 9.6
1314 portal hypertension 9.6
1315 hypospadias 9.6
1316 amnestic disorder 9.6
1317 opioid abuse 9.6
1318 disseminated intravascular coagulation 9.6
1319 suppurative otitis media 9.6
1320 iron deficiency anemia 9.6
1321 lymphocytic choriomeningitis 9.6
1322 hepatitis a 9.6
1323 hypertrophic pyloric stenosis 9.6
1324 hereditary hemorrhagic telangiectasia 9.6
1325 nephronophthisis 9.6
1326 migraine without aura 9.6
1327 porphyria 9.6
1328 ehlers-danlos syndrome 9.6
1329 hepatic encephalopathy 9.6
1330 sick sinus syndrome 9.6
1331 schistosomiasis 9.6
1332 chronic purulent otitis media 9.6
1333 neuroleptic malignant syndrome 9.6
1334 lymphangioma 9.6
1335 avoidant personality disorder 9.6
1336 thrombocytopenia due to platelet alloimmunization 9.6
1337 endogenous depression 9.6
1338 retinal vein occlusion 9.6
1339 calcinosis 9.6
1340 atrial heart septal defect 9.6
1341 hypogonadism 9.6
1342 dysostosis 9.6
1343 exostosis 9.6
1344 arteriosclerosis 9.6
1345 myoma 9.6
1346 bilirubin metabolic disorder 9.6
1347 endometrial adenocarcinoma 9.6
1348 breast ductal carcinoma 9.6
1349 grade iii astrocytoma 9.6
1350 cystic lymphangioma 9.6
1351 cystadenocarcinoma 9.6
1352 syringomyelia 9.6
1353 embryonal carcinoma 9.6
1354 mesenchymal cell neoplasm 9.6
1355 epidural spinal canal neoplasm 9.6
1356 mast cell neoplasm 9.6
1357 gastric adenocarcinoma 9.6
1358 hermaphroditism 9.6
1359 multidrug-resistant tuberculosis 9.6
1360 coronary stenosis 9.6
1361 radiculopathy 9.6
1362 neuromuscular disease 9.6
1363 avian influenza 9.6
1364 mucoepidermoid carcinoma 9.6
1365 extracutaneous mastocytoma 9.6
1366 prosopagnosia 9.6
1367 hemangioblastoma 9.6
1368 blepharospasm 9.6
1369 sleep disorder 9.6
1370 spiradenoma 9.6
1371 aortic valve insufficiency 9.6
1372 acute disseminated encephalomyelitis 9.6
1373 prion disease 9.6
1374 osteochondrosis 9.6
1375 ileus 9.6
1376 night blindness 9.6
1377 smallpox 9.6
1378 sideroblastic anemia 9.6
1379 autosomal dominant polycystic kidney disease 9.6
1380 macroglobulinemia 9.6
1381 diabetic macular edema 9.6
1382 sickle cell disease 9.6
1383 acute graft versus host disease 9.6
1384 adrenomyeloneuropathy 9.6
1385 allergic encephalomyelitis 9.6
1386 cytokine deficiency 9.6
1387 dentinogenesis imperfecta type 2 9.6
1388 growth hormone deficiency 9.6
1389 odontoma 9.6
1390 oral cancer 9.6
1391 precocious puberty 9.6
1392 pseudo-turner syndrome 9.6
1393 rosai-dorfman disease 9.6
1394 spastic paraparesis 9.6
1395 anoxia 9.6
1396 pituitary tumors 9.6
1397 differentiated thyroid carcinoma 9.6
1398 cerebrofacial arteriovenous metameric syndrome 9.6
1399 rare lymphatic malformation 9.6
1400 avascular necrosis 9.6
1401 congenital amyoplasia 9.6
1402 cardiogenic shock 9.6
1403 arteriovenous malformations of the brain 9.5
1404 basal cell nevus syndrome 9.5
1405 cerebral cavernous malformations 9.5
1406 coarctation of aorta 9.5
1407 cone-rod dystrophy 2 9.5
1408 darier-white disease 9.5
1409 diabetes mellitus, noninsulin-dependent 9.5
1410 beckwith-wiedemann syndrome 9.5
1411 epicanthus 9.5
1412 epidermoid cysts 9.5
1413 hernia, hiatus 9.5
1414 huntington disease 9.5
1415 meckel diverticulum 9.5
1416 multiple endocrine neoplasia, type iib 9.5
1417 nephrolithiasis, calcium oxalate 9.5
1418 pectus excavatum 9.5
1419 pneumothorax, primary spontaneous 9.5
1420 prader-willi syndrome 9.5
1421 dowling-degos disease 1 9.5
1422 keratosis, seborrheic 9.5
1423 telangiectasia, hereditary hemorrhagic, type 1 9.5
1424 thanatophoric dysplasia, type i 9.5
1425 thrombocytopenic purpura, autoimmune 9.5
1426 wolff-parkinson-white syndrome 9.5
1427 chediak-higashi syndrome 9.5
1428 pituitary adenoma 4, acth-secreting 9.5
1429 moyamoya disease 1 9.5
1430 spinal muscular atrophy, type i 9.5
1431 myxedema 9.5
1432 hemophagocytic lymphohistiocytosis, familial, 1 9.5
1433 rheumatic fever-related antigen 9.5
1434 graves disease 1 9.5
1435 vitamin d-dependent rickets, type 2a 9.5
1436 wrinkly skin syndrome 9.5
1437 xeroderma pigmentosum, variant type 9.5
1438 menkes disease 9.5
1439 suppression of tumorigenicity 12 9.5
1440 homocysteinemia 9.5
1441 sickle cell anemia 9.5
1442 reflex sympathetic dystrophy 9.5
1443 propionic acidemia 9.5
1444 griscelli syndrome, type 2 9.5
1445 li-fraumeni syndrome 2 9.5
1446 cholangitis, primary sclerosing 9.5
1447 aortic valve disease 2 9.5
1448 hyperprolactinemia 9.5
1449 hypertrophic scars 9.5
1450 tendinitis 9.5
1451 angiosarcoma 9.5
1452 superficial mycosis 9.5
1453 hypophosphatemia 9.5
1454 foodborne botulism 9.5
1455 variola major 9.5
1456 severe congenital neutropenia 9.5
1457 lymphoplasmacytic lymphoma 9.5
1458 primary progressive multiple sclerosis 9.5
1459 pervasive developmental disorder 9.5
1460 cutaneous t cell lymphoma 9.5
1461 brain meningioma 9.5
1462 alexithymia 9.5
1463 crohn's colitis 9.5
1464 gingival fibromatosis 9.5
1465 spinal disease 9.5
1466 hereditary lymphedema i 9.5
1467 cerebellar hypoplasia 9.5
1468 physical disorder 9.5
1469 adenoid cystic carcinoma 9.5
1470 middle east respiratory syndrome 9.5
1471 endometritis 9.5
1472 migraine with aura 9.5
1473 pelvic inflammatory disease 9.5
1474 klippel-feil syndrome 9.5
1475 short bowel syndrome 9.5
1476 interstitial nephritis 9.5
1477 hand, foot and mouth disease 9.5
1478 borderline personality disorder 9.5
1479 alport syndrome 9.5
1480 anogenital venereal wart 9.5
1481 hypoparathyroidism 9.5
1482 allergic conjunctivitis 9.5
1483 social phobia 9.5
1484 trachoma 9.5
1485 erysipelas 9.5
1486 megacolon 9.5
1487 xanthogranulomatous pyelonephritis 9.5
1488 autonomic neuropathy 9.5
1489 hepatorenal syndrome 9.5
1490 hemosiderosis 9.5
1491 neurogenic bladder 9.5
1492 anisometropia 9.5
1493 entropion 9.5
1494 secondary hyperparathyroidism 9.5
1495 pulmonary sarcoidosis 9.5
1496 osteopetrosis 9.5
1497 premature ejaculation 9.5
1498 white piedra 9.5
1499 algoneurodystrophy 9.5
1500 iritis 9.5
1501 anus cancer 9.5
1502 bacteriuria 9.5
1503 frozen shoulder 9.5
1504 sclerosing cholangitis 9.5
1505 generalized anxiety disorder 9.5
1506 neuronal ceroid lipofuscinosis 9.5
1507 root resorption 9.5
1508 ectropion 9.5
1509 cystitis 9.5
1510 histoplasmosis 9.5
1511 mitral valve stenosis 9.5
1512 facial hemiatrophy 9.5
1513 ossifying fibroma 9.5
1514 status epilepticus 9.5
1515 childhood absence epilepsy 9.5
1516 neuroma 9.5
1517 hemorrhagic disease 9.5
1518 hepatitis 9.5
1519 spondylosis 9.5
1520 keratopathy 9.5
1521 motor neuron disease 9.5
1522 granular cell tumor 9.5
1523 psychotic disorder 9.5
1524 relapsing polychondritis 9.5
1525 corneal dystrophy 9.5
1526 pigmented villonodular synovitis 9.5
1527 acrodermatitis 9.5
1528 hemoglobinopathy 9.5
1529 newcastle disease 9.5
1530 lobular neoplasia 9.5
1531 early myoclonic encephalopathy 9.5
1532 keratoacanthoma 9.5
1533 lipomatosis 9.5
1534 demyelinating disease 9.5
1535 teratocarcinoma 9.5
1536 coronary aneurysm 9.5
1537 cellulitis 9.5
1538 mastocytosis 9.5
1539 kallmann syndrome 9.5
1540 lactic acidosis 9.5
1541 intermittent claudication 9.5
1542 craniopharyngioma 9.5
1543 merkel cell carcinoma 9.5
1544 pseudohypoparathyroidism 9.5
1545 mutism 9.5
1546 endometrial stromal sarcoma 9.5
1547 erdheim-chester disease 9.5
1548 peanut allergy 9.5
1549 hepatitis e 9.5
1550 clear cell renal cell carcinoma 9.5
1551 pleomorphic adenoma 9.5
1552 nominal aphasia 9.5
1553 brain edema 9.5
1554 cavernous hemangioma 9.5
1555 benign ependymoma 9.5
1556 urinary tract obstruction 9.5
1557 schizoaffective disorder 9.5
1558 cellular ependymoma 9.5
1559 retinal disease 9.5
1560 breast lymphoma 9.5
1561 agoraphobia 9.5
1562 reactive arthritis 9.5
1563 plasma cell neoplasm 9.5
1564 adrenal adenoma 9.5
1565 bilateral breast cancer 9.5
1566 juvenile pilocytic astrocytoma 9.5
1567 inverted follicular keratosis 9.5
1568 mitochondrial metabolism disease 9.5
1569 acth-secreting pituitary adenoma 9.5
1570 malignant pleural mesothelioma 9.5
1571 gastrointestinal system disease 9.5
1572 actinomycosis 9.5
1573 hodgkin's lymphoma, lymphocytic-histiocytic predominance 9.5
1574 malignant hyperthermia 9.5
1575 oropharynx cancer 9.5
1576 perinatal necrotizing enterocolitis 9.5
1577 myeloid sarcoma 9.5
1578 vascular dementia 9.5
1579 rubella 9.5
1580 molluscum contagiosum 9.5
1581 degenerative disc disease 9.5
1582 cutaneous leishmaniasis 9.5
1583 ocular hypertension 9.5
1584 diabetes mellitus 9.5
1585 keratoconjunctivitis 9.5
1586 allergic asthma 9.5
1587 bronchiectasis 9.5
1588 fasciitis 9.5
1589 polyarteritis nodosa 9.5
1590 villonodular synovitis 9.5
1591 mitochondrial disorders 9.5
1592 candida glabrata 9.5
1593 central serous chorioretinopathy 9.5
1594 diencephalic syndrome 9.5
1595 osteochondroma 9.5
1596 pectus carinatum 9.5
1597 pemphigus foliaceus 9.5
1598 prosthetic joint infection 9.5
1599 retroperitoneal fibrosis 9.5
1600 ring chromosome 2 9.5
1601 stevens-johnson syndrome/toxic epidermal necrolysis 9.5
1602 testicular seminoma 9.5
1603 warthin tumor 9.5
1604 autonomic dysfunction 9.5
1605 cavernous malformation 9.5
1606 paraneoplastic syndromes 9.5
1607 whiplash 9.5
1608 macular amyloidosis 9.5
1609 occipital encephalocele 9.5
1610 progressive muscular dystrophy 9.5
1611 rare hereditary hemochromatosis 9.5
1612 acute sensory ataxic neuropathy 9.5
1613 ring chromosome 9.5
1614 idiopathic nephrotic syndrome 9.5
1615 osteonecrosis of the jaw 9.5
1616 premature aging 9.5
1617 nodular lymphocyte predominant hodgkin lymphoma 9.5
1618 polyploidy 9.5
1619 atrial septal aneurysm 9.5
1620 hereditary optic neuropathy 9.5
1621 acanthosis nigricans 9.4
1622 acrokeratosis verruciformis 9.4
1623 apnea, obstructive sleep 9.4
1624 alopecia, androgenetic, 1 9.4
1625 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.4
1626 cat eye syndrome 9.4
1627 leukocyte adhesion deficiency, type i 9.4
1628 cherubism 9.4
1629 lynch syndrome i 9.4
1630 contractural arachnodactyly, congenital 9.4
1631 coronary artery dissection, spontaneous 9.4
1632 cornelia de lange syndrome 1 9.4
1633 coxa vara 9.4
1634 deafness, unilateral 9.4
1635 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 9.4
1636 multiple endocrine neoplasia, type i 9.4
1637 hirschsprung disease 1 9.4
1638 spondyloepiphyseal dysplasia with congenital joint dislocations 9.4
1639 ichthyosis vulgaris 9.4
1640 intussusception 9.4
1641 klippel-trenaunay-weber syndrome 9.4
1642 leiomyoma, uterine 9.4
1643 leukemia, acute monocytic 9.4
1644 muir-torre syndrome 9.4
1645 myelopathy, htlv-1-associated 9.4
1646 naegeli-franceschetti-jadassohn syndrome 9.4
1647 hyperuricemic nephropathy, familial juvenile, 1 9.4
1648 neuropathy, hereditary, with liability to pressure palsies 9.4
1649 ocular dominance 9.4
1650 osteogenesis imperfecta, type ii 9.4
1651 pilonidal sinus 9.4
1652 polycystic liver disease 1 with or without kidney cysts 9.4
1653 familial adenomatous polyposis 1 9.4
1654 pyloric stenosis, infantile hypertrophic, 1 9.4
1655 septooptic dysplasia 9.4
1656 spondyloepiphyseal dysplasia congenita 9.4
1657 spondylolisthesis 9.4
1658 spondylosis, cervical 9.4
1659 thrombophilia due to activated protein c resistance 9.4
1660 vesicoureteral reflux 1 9.4
1661 wolf-hirschhorn syndrome 9.4
1662 albinism, oculocutaneous, type ii 9.4
1663 anemia, hypochromic microcytic, with iron overload 1 9.4
1664 australia antigen 9.4
1665 ceroid storage disease 9.4
1666 fraser syndrome 1 9.4
1667 cryptorchidism, unilateral or bilateral 9.4
1668 dandy-walker syndrome 9.4
1669 eosinophilic fasciitis 9.4
1670 epidermodysplasia verruciformis 1 9.4
1671 fanconi anemia, complementation group a 9.4
1672 gaucher disease, type i 9.4
1673 hemangiopericytoma, malignant 9.4
1674 hutterite cerebroosteonephrodysplasia syndrome 9.4
1675 jejunal atresia 9.4
1676 metachromatic leukodystrophy 9.4
1677 cartilage-hair hypoplasia 9.4
1678 methane production 9.4
1679 muscular dystrophy, limb-girdle, autosomal recessive 2 9.4
1680 miyoshi muscular dystrophy 1 9.4
1681 myopathy, congenital, with fiber-type disproportion 9.4
1682 schwartz-jampel syndrome, type 1 9.4
1683 gyrate atrophy of choroid and retina 9.4
1684 osteogenesis imperfecta, type iii 9.4
1685 hyperoxaluria, primary, type i 9.4
1686 pancreatic agenesis 1 9.4
1687 subacute sclerosing panencephalitis 9.4
1688 papilloma of choroid plexus 9.4
1689 pituitary hormone deficiency, combined, 2 9.4
1690 pseudoxanthoma elasticum 9.4
1691 pycnodysostosis 9.4
1692 pyloric atresia 9.4
1693 sjogren syndrome 9.4
1694 sjogren-larsson syndrome 9.4
1695 tyrosinosis 9.4
1696 46,xx sex reversal 2 9.4
1697 androgen insensitivity syndrome 9.4
1698 fragile x tremor/ataxia syndrome 9.4
1699 agammaglobulinemia, x-linked 9.4
1700 anemia, nonspherocytic hemolytic, due to g6pd deficiency 9.4
1701 alport syndrome 1, x-linked 9.4
1702 leber optic atrophy 9.4
1703 ornithine transcarbamylase deficiency, hyperammonemia due to 9.4
1704 pelizaeus-merzbacher disease 9.4
1705 reticuloendotheliosis, x-linked 9.4
1706 thrombocytopenia 1 9.4
1707 retinitis pigmentosa-deafness syndrome 9.4
1708 epilepsy, childhood absence 1 9.4
1709 adenomyosis 9.4
1710 fryns microphthalmia syndrome 9.4
1711 budd-chiari syndrome 9.4
1712 suppressor of tumorigenicity 11 9.4
1713 xanthomatosis 9.4
1714 malignant atrophic papulosis 9.4
1715 cerebral cavernous malformations 2 9.4
1716 schizophrenia 10 9.4
1717 diabetes mellitus, permanent neonatal 1 9.4
1718 maturity-onset diabetes of the young 9.4
1719 bone mineral density quantitative trait locus 3 9.4
1720 scheie syndrome 9.4
1721 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 9.4
1722 niemann-pick disease, type b 9.4
1723 angioma, tufted 9.4
1724 dermatofibrosarcoma protuberans 9.4
1725 neutrophilic dermatosis, acute febrile 9.4
1726 legionnaire disease 9.4
1727 granulomatosis with polyangiitis 9.4
1728 west nile virus 9.4
1729 asthma-related traits 4 9.4
1730 diabetes mellitus, ketosis-prone 9.4
1731 premature ovarian failure 7 9.4
1732 myxoid liposarcoma 9.4
1733 alpha-1-antitrypsin deficiency 9.4
1734 cyanosis, transient neonatal 9.4
1735 muscle hypertrophy 9.4
1736 familial cold autoinflammatory syndrome 3 9.4
1737 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.4
1738 schuurs-hoeijmakers syndrome 9.4
1739 carbonic anhydrase va deficiency, hyperammonemia due to 9.4
1740 glucocorticoid resistance, generalized 9.4
1741 analbuminemia 9.4
1742 lung disease, immunodeficiency, and chromosome breakage syndrome 9.4
1743 cortical dysplasia, complex, with other brain malformations 10 9.4
1744 diabetes mellitus, permanent neonatal 4 9.4
1745 speech and communication disorders 9.4
1746 tendinopathy 9.4
1747 stargardt disease 9.4
1748 tendinosis 9.4
1749 neuronal ceroid-lipofuscinoses 9.4
1750 invasive aspergillosis 9.4
1751 swine influenza 9.4
1752 lambert-eaton myasthenic syndrome 9.4
1753 asperger syndrome 9.4
1754 usher syndrome 9.4
1755 epidemic typhus 9.4
1756 hypochromic microcytic anemia 9.4
1757 fetal alcohol syndrome 9.4
1758 alcohol-related birth defect 9.4
1759 androgenic alopecia 9.4
1760 rheumatic heart disease 9.4
1761 colorectal adenocarcinoma 9.4
1762 oral squamous cell carcinoma 9.4
1763 ameloblastoma 9.4
1764 ovarian clear cell carcinoma 9.4
1765 paraphilia disorder 9.4
1766 osteoblastoma 9.4
1767 generalized epilepsy with febrile seizures plus 9.4
1768 ischemic colitis 9.4
1769 microscopic colitis 9.4
1770 ileocolitis 9.4
1771 sclerosteosis 9.4
1772 bacillary angiomatosis 9.4
1773 zika fever 9.4
1774 left ventricular noncompaction 9.4
1775 drug allergy 9.4
1776 recessive dystrophic epidermolysis bullosa 9.4
1777 familial hypocalciuric hypercalcemia 9.4
1778 early-onset parkinson's disease 9.4
1779 pediatric hepatocellular carcinoma 9.4
1780 metaphyseal dysplasia 9.4
1781 achondrogenesis 9.4
1782 spina bifida occulta 9.4
1783 congenital fiber-type disproportion 9.4
1784 childhood acute lymphocytic leukemia 9.4
1785 cryptococcal meningitis 9.4
1786 chronic myelomonocytic leukemia 9.4
1787 nodal marginal zone lymphoma 9.4
1788 endometrial hyperplasia 9.4
1789 mucolipidosis 9.4
1790 angioimmunoblastic t-cell lymphoma 9.4
1791 castleman disease 9.4
1792 corneal disease 9.4
1793 cerebral artery occlusion 9.4
1794 pleurisy 9.4
1795 mumps 9.4
1796 left bundle branch hemiblock 9.4
1797 legionellosis 9.4
1798 common cold 9.4
1799 dentin caries 9.4
1800 intestinal atresia 9.4
1801 microinvasive gastric cancer 9.4
1802 pleural tuberculosis 9.4
1803 lactose intolerance 9.4
1804 schizotypal personality disorder 9.4
1805 premature menopause 9.4
1806 lepromatous leprosy 9.4
1807 dissociative disorder 9.4
1808 antisocial personality disorder 9.4
1809 bullous keratopathy 9.4
1810 q fever 9.4
1811 spotted fever 9.4
1812 cholecystolithiasis 9.4
1813 esophageal varix 9.4
1814 appendix cancer 9.4
1815 keratomalacia 9.4
1816 pituitary apoplexy 9.4
1817 choroiditis 9.4
1818 alternating exotropia 9.4
1819 exotropia 9.4
1820 cardiac tamponade 9.4
1821 fuchs' endothelial dystrophy 9.4
1822 listeriosis 9.4
1823 streptococcal meningitis 9.4
1824 cauda equina syndrome 9.4
1825 infant gynecomastia 9.4
1826 cornelia de lange syndrome 9.4
1827 protein-energy malnutrition 9.4
1828 conn's syndrome 9.4
1829 optic neuritis 9.4
1830 pulmonary alveolar proteinosis 9.4
1831 dengue hemorrhagic fever 9.4
1832 alcoholic hepatitis 9.4
1833 dysentery 9.4
1834 pathological gambling 9.4
1835 bell's palsy 9.4
1836 acute kidney tubular necrosis 9.4
1837 chronic progressive external ophthalmoplegia 9.4
1838 blastomycosis 9.4
1839 gynecomastia 9.4
1840 cardiovascular system disease 9.4
1841 keratoconjunctivitis sicca 9.4
1842 conduct disorder 9.4
1843 balanitis 9.4
1844 relapsing fever 9.4
1845 severe pre-eclampsia 9.4
1846 brain cancer 9.4
1847 exocrine pancreatic insufficiency 9.4
1848 pure red-cell aplasia 9.4
1849 urethritis 9.4
1850 kwashiorkor 9.4
1851 patent foramen ovale 9.4
1852 campylobacteriosis 9.4
1853 sapho syndrome 9.4
1854 anodontia 9.4
1855 acute poststreptococcal glomerulonephritis 9.4
1856 plasmodium falciparum malaria 9.4
1857 epicondylitis 9.4
1858 renal tubular acidosis 9.4
1859 oral candidiasis 9.4
1860 acute cholangitis 9.4
1861 pleuropneumonia 9.4
1862 corneal ectasia 9.4
1863 cholinergic urticaria 9.4
1864 aggressive periodontitis 9.4
1865 dermatomycosis 9.4
1866 benign breast phyllodes tumor 9.4
1867 conjunctival squamous cell carcinoma 9.4
1868 pericarditis 9.4
1869 hyperuricemia 9.4
1870 trichomoniasis 9.4
1871 rectum adenocarcinoma 9.4
1872 benign giant cell tumor 9.4
1873 myotonia congenita 9.4
1874 pharyngitis 9.4
1875 spondylolysis 9.4
1876 craniosynostosis 9.4
1877 wernicke encephalopathy 9.4
1878 glomus tumor 9.4
1879 protein s deficiency 9.4
1880 retinal vascular disease 9.4
1881 angiodysplasia 9.4
1882 opiate dependence 9.4
1883 larynx cancer 9.4
1884 pancreas disease 9.4
1885 chondroma 9.4
1886 struma ovarii 9.4
1887 adult cystic nephroma 9.4
1888 tic disorder 9.4
1889 nonspecific interstitial pneumonia 9.4
1890 bruxism 9.4
1891 hairy cell leukemia 9.4
1892 cervix carcinoma 9.4
1893 cryoglobulinemia 9.4
1894 primary hyperoxaluria 9.4
1895 anuria 9.4
1896 malignant glioma 9.4
1897 gliosarcoma 9.4
1898 gingival overgrowth 9.4
1899 gallbladder cancer 9.4
1900 oligodendroglioma 9.4
1901 tropical spastic paraparesis 9.4
1902 lysosomal storage disease 9.4
1903 myelitis 9.4
1904 chronic granulomatous disease 9.4
1905 osteitis fibrosa 9.4
1906 malignant fibrous histiocytoma of bone 9.4
1907 bacterial vaginosis 9.4
1908 palmoplantar keratosis 9.4
1909 carotid artery disease 9.4
1910 plague 9.4
1911 necrobiosis lipoidica 9.4
1912 mixed connective tissue disease 9.4
1913 choriocarcinoma 9.4
1914 mucinous cystadenocarcinoma 9.4
1915 wheat allergy 9.4
1916 verrucous carcinoma 9.4
1917 vaginal discharge 9.4
1918 porokeratosis 9.4
1919 cranial nerve palsy 9.4
1920 adrenal carcinoma 9.4
1921 acute myocarditis 9.4
1922 thyroid gland follicular carcinoma 9.4
1923 spindle cell carcinoma 9.4
1924 eosinophilic gastroenteritis 9.4
1925 heart valve disease 9.4
1926 tricuspid valve insufficiency 9.4
1927 agnosia 9.4
1928 ganglioneuroblastoma 9.4
1929 coronary restenosis 9.4
1930 bone giant cell tumor 9.4
1931 myofascial pain syndrome 9.4
1932 lymphocele 9.4
1933 amelanotic melanoma 9.4
1934 milk allergy 9.4
1935 folliculitis 9.4
1936 collecting duct carcinoma 9.4
1937 clear cell adenocarcinoma 9.4
1938 orofaciodigital syndrome 9.4
1939 retrograde amnesia 9.4
1940 subacute bacterial endocarditis 9.4
1941 uremia 9.4
1942 intracranial hypotension 9.4
1943 cerebellar astrocytoma 9.4
1944 bronchiolo-alveolar adenocarcinoma 9.4
1945 tubular adenocarcinoma 9.4
1946 sclerosing hemangioma 9.4
1947 thyroid gland disease 9.4
1948 leiomyomatosis 9.4
1949 aortitis 9.4
1950 demyelinating polyneuropathy 9.4
1951 epulis 9.4
1952 internuclear ophthalmoplegia 9.4
1953 paget's disease of bone 9.4
1954 lice infestation 9.4
1955 keratinizing squamous cell carcinoma 9.4
1956 testicular germ cell cancer 9.4
1957 adult acute lymphocytic leukemia 9.4
1958 well-differentiated liposarcoma 9.4
1959 intravenous leiomyomatosis 9.4
1960 esophageal disease 9.4
1961 lymphopenia 9.4
1962 cll/sll 9.4
1963 diffuse idiopathic skeletal hyperostosis 9.4
1964 parasagittal meningioma 9.4
1965 monoclonal gammopathy of uncertain significance 9.4
1966 situs inversus 9.4
1967 macular holes 9.4
1968 septic arthritis 9.4
1969 osteochondritis dissecans 9.4
1970 kidney angiomyolipoma 9.4
1971 impetigo 9.4
1972 monocytic leukemia 9.4
1973 collagen disease 9.4
1974 oral cavity cancer 9.4
1975 mitochondrial encephalomyopathy 9.4
1976 dermatophytosis 9.4
1977 atrophic gastritis 9.4
1978 zellweger syndrome 9.4
1979 amebiasis 9.4
1980 speech disorder 9.4
1981 primary ciliary dyskinesia 9.4
1982 systolic heart failure 9.4
1983 pulmonary emphysema 9.4
1984 diabetic neuropathy 9.4
1985 myocardial stunning 9.4
1986 diastolic heart failure 9.4
1987 congenital syphilis 9.4
1988 miliary tuberculosis 9.4
1989 hypoplastic left heart syndrome 9.4
1990 drug dependence 9.4
1991 eosinophilia-myalgia syndrome 9.4
1992 keloid disorder 9.4
1993 triple x syndrome 9.4
1994 cerebral cavernous malformation, familial 9.4
1995 dysferlinopathy 9.4
1996 dystrophinopathies 9.4
1997 hereditary dystonia 9.4
1998 trichorhinophalangeal syndrome 9.4
1999 46, xy disorders of sexual development 9.4
2000 acute monoblastic leukemia 9.4
2001 al amyloidosis 9.4
2002 auditory neuropathy spectrum disorder 9.4
2003 autoimmune autonomic ganglionopathy 9.4
2004 bowen's disease 9.4
2005 bowenoid papulosis 9.4
2006 carcinoid syndrome 9.4
2007 cerebellar degeneration 9.4
2008 chromosome 4p deletion 9.4
2009 cystic adenomatoid malformation of lung 9.4
2010 enchondroma 9.4
2011 familial tumoral calcinosis 9.4
2012 florid cemento-osseous dysplasia 9.4
2013 gianotti crosti syndrome 9.4
2014 harlequin syndrome 9.4
2015 heparin-induced thrombocytopenia 9.4
2016 htlv-1 associated myelopathy/tropical spastic paraparesis 9.4
2017 macrophage activation syndrome 9.4
2018 meningoencephalocele 9.4
2019 mosaic trisomy 8 9.4
2020 mycobacterium abscessus 9.4
2021 mycobacterium gordonae 9.4
2022 neisseria meningitidis infection 9.4
2023 ovarian epithelial cancer 9.4
2024 periodontal ehlers-danlos syndrome 9.4
2025 post-transplant lymphoproliferative disease 9.4
2026 proximal spinal muscular atrophy 9.4
2027 pustular psoriasis 9.4
2028 sirenomelia 9.4
2029 triploidy 9.4
2030 wallerian degeneration 9.4
2031 cerebral beriberi 9.4
2032 dysautonomia 9.4
2033 hereditary neuropathies 9.4
2034 primary cutaneous marginal zone b-cell lymphoma 9.4
2035 b-cell non-hodgkin lymphoma 9.4
2036 interatrial communication 9.4
2037 systemic autoimmune disease 9.4
2038 qualitative or quantitative defects of dystrophin 9.4
2039 qualitative or quantitative defects of dysferlin 9.4
2040 qualitative or quantitative defects of sarcoglycan 9.4
2041 virus-associated trichodysplasia spinulosa 9.4
2042 disorder of copper metabolism 9.4
2043 primary cutaneous anaplastic large cell lymphoma 9.4
2044 exercise-induced malignant hyperthermia 9.4
2045 idiopathic avascular necrosis 9.4
2046 serotonin syndrome 9.4
2047 discoid lupus erythematosus 9.4
2048 renal dysplasia 9.4
2049 transient pseudohypoaldosteronism 9.4
2050 rare tumor 9.4
2051 juvenile nephronophthisis 9.4
2052 refractory anemia 9.4
2053 red cell aplasia 9.4
2054 precursor t-cell acute lymphoblastic leukemia 9.4
2055 adams-oliver syndrome 1 9.3
2056 acromicric dysplasia 9.3
2057 acropectorovertebral dysplasia 9.3
2058 spermatogenic failure 6 9.3
2059 pseudohypoparathyroidism, type ia 9.3
2060 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 9.3
2061 amenorrhea-galactorrhea syndrome 9.3
2062 cerebral amyloid angiopathy, cst3-related 9.3
2063 angioedema, hereditary, type i 9.3
2064 annular erythema 9.3
2065 total anomalous pulmonary venous return 1 9.3
2066 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 9.3
2067 aryl hydrocarbon hydroxylase inducibility 9.3
2068 episodic ataxia, type 2 9.3
2069 atelosteogenesis, type i 9.3
2070 leukemia, chronic lymphocytic 2 9.3
2071 behcet syndrome 9.3
2072 blood group, p1pk system 9.3
2073 epidermolytic hyperkeratosis 9.3
2074 caffey disease 9.3
2075 cafe-au-lait spots, multiple 9.3
2076 candidiasis, familial, 1 9.3
2077 cardiofaciocutaneous syndrome 1 9.3
2078 cervical rib 9.3
2079 charcot-marie-tooth disease, demyelinating, type 1b 9.3
2080 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.3
2081 cornea plana 1, autosomal dominant 9.3
2082 epithelial recurrent erosion dystrophy 9.3
2083 spondylocostal dysostosis 5 9.3
2084 cryoglobulinemia, familial mixed 9.3
2085 dens evaginatus 9.3
2086 dentatorubral-pallidoluysian atrophy 9.3
2087 dermatopathia pigmentosa reticularis 9.3
2088 diabetes insipidus, neurohypophyseal 9.3
2089 maturity-onset diabetes of the young, type 2 9.3
2090 duane retraction syndrome 1 9.3
2091 dwarfism with stiff joints and ocular abnormalities 9.3
2092 ehlers-danlos syndrome, vascular type 9.3
2093 camurati-engelmann disease 9.3
2094 epidermolysis bullosa dystrophica, autosomal dominant 9.3
2095 exostoses, multiple, type i 9.3
2096 exostoses, multiple, type ii 9.3
2097 birt-hogg-dube syndrome 9.3
2098 fibromatosis, gingival, 1 9.3
2099 fibromuscular dysplasia 9.3
2100 fish-eye disease 9.3
2101 fragile site, distamycin a type, rare, fra(16)(q22.1) 9.3
2102 frasier syndrome 9.3
2103 fucosidase regulator 9.3
2104 gallbladder, agenesis of 9.3
2105 immunoglobulin a deficiency 1 9.3
2106 gilles de la tourette syndrome 9.3
2107 glaucoma and sleep apnea 9.3
2108 glomuvenous malformations 9.3
2109 hyperglycinuria 9.3
2110 hashimoto thyroiditis 9.3
2111 migraine, familial hemiplegic, 1 9.3
2112 fetal hemoglobin quantitative trait locus 1 9.3
2113 diaphragmatic hernia, congenital 9.3
2114 developmental dysplasia of the hip 1 9.3
2115 congenital anomalies of kidney and urinary tract 2 9.3
2116 opitz gbbb syndrome, type ii 9.3
2117 hypertrichosis lanuginosa congenita 9.3
2118 hypertrophic neuropathy of dejerine-sottas 9.3
2119 hypochondroplasia 9.3
2120 hypogonadotropic hypogonadism 7 with or without anosmia 9.3
2121 ichthyosis bullosa of siemens 9.3
2122 hypogonadotropic hypogonadism 2 with or without anosmia 9.3
2123 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.3
2124 kleine-levin hibernation syndrome 9.3
2125 kyrle disease 9.3
2126 lacrimal duct defect 9.3
2127 trichorhinophalangeal syndrome, type ii 9.3
2128 laryngomalacia 9.3
2129 tooth agenesis, selective, 4 9.3
2130 platyspondylic lethal skeletal dysplasia, torrance type 9.3
2131 lipodystrophy, familial partial, type 2 9.3
2132 lymphatic malformation 5 9.3
2133 macroglossia 9.3
2134 treacher collins syndrome 1 9.3
2135 meniere disease 9.3
2136 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.3
2137 monilethrix 9.3
2138 motion sickness 9.3
2139 facioscapulohumeral muscular dystrophy 2 9.3
2140 iga nephropathy 1 9.3
2141 amyotrophy, hereditary neuralgic 9.3
2142 neurofibromatosis, type i 9.3
2143 neutrophil migration 9.3
2144 night blindness, congenital stationary, autosomal dominant 2 9.3
2145 oculopharyngeal muscular dystrophy 9.3
2146 omphalocele, autosomal 9.3
2147 thiemann disease 9.3
2148 osteogenesis imperfecta, type i 9.3
2149 osteogenesis imperfecta, type iv 9.3
2150 gnathodiaphyseal dysplasia 9.3
2151 osteopetrosis, autosomal dominant 2 9.3
2152 teratoma, ovarian 9.3
2153 pachyonychia congenita 1 9.3
2154 paroxysmal extreme pain disorder 9.3
2155 pancreatitis, hereditary 9.3
2156 paramyotonia congenita of von eulenburg 9.3
2157 parietal foramina 1 9.3
2158 prolidase deficiency 9.3
2159 hyperkalemic periodic paralysis 9.3
2160 piebald trait 9.3
2161 polydactyly, postaxial, type a1 9.3
2162 mccune-albright syndrome 9.3
2163 greig cephalopolysyndactyly syndrome 9.3
2164 porphyria, acute intermittent 9.3
2165 precocious puberty, male-limited 9.3
2166 proteus syndrome 9.3
2167 protoporphyria, erythropoietic, 1 9.3
2168 exfoliation syndrome 9.3
2169 pulmonary hypertension, primary, 1 9.3
2170 raph blood group system 9.3
2171 renal tubular acidosis, distal, autosomal dominant 9.3
2172 ringed hair 9.3
2173 ruvalcaba syndrome 9.3
2174 schizophrenia 1 9.3
2175 sneddon syndrome 9.3
2176 spinal arachnoiditis 9.3
2177 neuronopathy, distal hereditary motor, type i 9.3
2178 odontochondrodysplasia 9.3
2179 steatocystoma multiplex 9.3
2180 polycystic ovary syndrome 1 9.3
2181 storage pool platelet disease 9.3
2182 symphalangism, distal 9.3
2183 teeth present at birth 9.3
2184 teeth, supernumerary 9.3
2185 tetralogy of fallot 9.3
2186 thanatophoric dysplasia, type ii 9.3
2187 thyroid cancer, nonmedullary, 2 9.3
2188 witkop syndrome 9.3
2189 torticollis 9.3
2190 preeclampsia/eclampsia 1 9.3
2191 trichorhinophalangeal syndrome, type i 9.3
2192 tritanopia 9.3
2193 tune deafness 9.3
2194 velocardiofacial syndrome 9.3
2195 vertical talus, congenital 9.3
2196 white sponge nevus 1 9.3
2197 williams-beuren syndrome 9.3
2198 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 9.3
2199 choreoacanthocytosis 9.3
2200 achondrogenesis, type ii 9.3
2201 pseudohypoparathyroidism, type ii 9.3
2202 alexander disease 9.3
2203 alkaptonuria 9.3
2204 amyotonia congenita 9.3
2205 anemia, autoimmune hemolytic 9.3
2206 anodontia of permanent dentition 9.3
2207 arterial calcification, generalized, of infancy, 1 9.3
2208 short-rib thoracic dysplasia 1 with or without polydactyly 9.3
2209 bardet-biedl syndrome 1 9.3
2210 bloom syndrome 9.3
2211 fazio-londe disease 9.3
2212 brown-vialetto-van laere syndrome 1 9.3
2213 carnitine deficiency, systemic primary 9.3
2214 cenani-lenz syndactyly syndrome 9.3
2215 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 9.3
2216 chordoma 9.3
2217 complement component 2 deficiency 9.3
2218 plasminogen deficiency, type i 9.3
2219 constricting bands, congenital 9.3
2220 cornea plana 2, autosomal recessive 9.3
2221 corpus callosum, agenesis of 9.3
2222 hypothyroidism, congenital, nongoitrous, 2 9.3
2223 crigler-najjar syndrome, type i 9.3
2224 cutis laxa, autosomal recessive, type iia 9.3
2225 cystathioninuria 9.3
2226 cystinuria 9.3
2227 wolfram syndrome 1 9.3
2228 trichohepatoenteric syndrome 1 9.3
2229 lysinuric protein intolerance 9.3
2230 ebstein anomaly 9.3
2231 schopf-schulz-passarge syndrome 9.3
2232 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.3
2233 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 9.3
2234 epidermolysis bullosa dystrophica, autosomal recessive 9.3
2235 factor vii deficiency 9.3
2236 fanconi anemia, complementation group d2 9.3
2237 hyaline fibromatosis syndrome 9.3
2238 fibrosclerosis, multifocal 9.3
2239 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 9.3
2240 friedreich ataxia 9.3
2241 galactorrhea 9.3
2242 galactosemia i 9.3
2243 gm1-gangliosidosis, type i 9.3
2244 bernard-soulier syndrome 9.3
2245 hartnup disorder 9.3
2246 hemihyperplasia, isolated 9.3
2247 mowat-wilson syndrome 9.3
2248 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.3
2249 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.3
2250 hypoascorbemia 9.3
2251 iminoglycinuria 9.3
2252 intracranial hypertension, idiopathic 9.3
2253 lambert syndrome 9.3
2254 macrocephaly/megalencephaly syndrome, autosomal recessive 9.3
2255 meckel syndrome, type 1 9.3
2256 langer mesomelic dysplasia 9.3
2257 metaphyseal dysplasia without hypotrichosis 9.3
2258 microphthalmia, isolated 1 9.3
2259 mucopolysaccharidosis, type iiib 9.3
2260 mucopolysaccharidosis, type iiid 9.3
2261 mucopolysaccharidosis, type vi 9.3
2262 mucopolysaccharidosis, type vii 9.3
2263 biotinidase deficiency 9.3
2264 spinal muscular atrophy, type iii 9.3
2265 spinal muscular atrophy, type ii 9.3
2266 muscular dystrophy, limb-girdle, autosomal recessive 1 9.3
2267 muscular dystrophy, limb-girdle, autosomal recessive 5 9.3
2268 leigh syndrome 9.3
2269 nephronophthisis 1 9.3
2270 netherton syndrome 9.3
2271 niemann-pick disease, type a 9.3
2272 oeis complex 9.3
2273 oliver syndrome 9.3
2274 nonarteritic anterior ischemic optic neuropathy 9.3
2275 osteogenesis imperfecta, type ix 9.3
2276 chronic recurrent multifocal osteomyelitis 9.3
2277 osteopetrosis, autosomal recessive 1 9.3
2278 hyper-igd syndrome 9.3
2279 interstitial pneumonitis, desquamative, familial 9.3
2280 polycystic kidney disease 4 with or without polycystic liver disease 9.3
2281 polysyndactyly with cardiac malformation 9.3
2282 vitamin d hydroxylation-deficient rickets, type 1a 9.3
2283 pulmonary alveolar microlithiasis 9.3
2284 pyropoikilocytosis, hereditary 9.3
2285 refsum disease, classic 9.3
2286 reticulum cell sarcoma 9.3
2287 rhabdomyosarcoma 2 9.3
2288 schizencephaly 9.3
2289 sea-blue histiocyte disease 9.3
2290 spastic ataxia, charlevoix-saguenay type 9.3
2291 spastic paraplegia 15, autosomal recessive 9.3
2292 spondyloperipheral dysplasia 9.3
2293 tardive dyskinesia 9.3
2294 testicular germ cell tumor 9.3
2295 dihydropyrimidine dehydrogenase deficiency 9.3
2296 squamous cell carcinoma, head and neck 9.3
2297 chanarin-dorfman syndrome 9.3
2298 tyrosinemia, type ii 9.3
2299 tyrosinemia, type i 9.3
2300 usher syndrome, type i 9.3
2301 spondylocostal dysostosis 1, autosomal recessive 9.3