Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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autosomal dominant Emery-Dreifuss muscular dystrophy 2 |
scapuloilioperoneal atrophy with cardiopathy; auto..
[+]
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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congenital disorder of glycosylation type IIf |
SLC35A1-CDG; Carbohydrate deficient glycoprotein s..
[+]
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A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIm |
SLC35A2-CDG; congenital disorder of glycosylation ..
[+]
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A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIn |
SLC39A8-CDG; Carbohydrate deficient glycoprotein s..
[+]
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A congenital disorder of glycosylation type II tha..[+]
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miliaria profunda |
SNOMEDCT_US_2020_03_01:47317002; ICD10CM:L74.2
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A miliaria that is characterized by ductal occlusi..[+]
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autosomal recessive spinocerebellar ataxia 28 |
SCAR28
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 29 |
SCAR29
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 30 |
SCAR30
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 31 |
SCAR31
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 32 |
SCAR32
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 33 |
SCAR33
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An autosomal recessive cerebellar ataxia character..[+]
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hereditary spastic paraplegia 70 |
SPG70; autosomal recessive spastic paraplegia 70
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 79A |
SPG79A; autosomal dominant spastic paraplegia 79A; ..
[+]
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A hereditary spastic paraplegia characterized by s..[+]
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hereditary spastic paraplegia 87 |
SPG87; autosomal recessive spastic paraplegia 87
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 88 |
SPG88; autosomal dominant spastic paraplegia 88
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 89 |
SPG89; autosomal recessive spastic paraplegia 89
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 90A |
SPG90A; autosomal dominant spastic paraplegia 90A; ..
[+]
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A hereditary spastic paraplegia characterized by m..[+]
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hereditary spastic paraplegia 90B |
SPG90B; autosomal recessive spastic paraplegia 90B..
[+]
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A hereditary spastic paraplegia characterized by m..[+]
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bone disease |
skeletal disease
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A connective tissue disease that affects the struc..[+]
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56 articles | 40 matches |
autosomal recessive spinocerebellar ataxia 16 |
SCAR16
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An autosomal recessive cerebellar ataxia that is c..[+]
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autosomal recessive spinocerebellar ataxia 18 |
SCAR18
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An autosomal recessive cerebellar ataxia that is c..[+]
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pseudoachondroplasia |
SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTI..
[+]
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An osteochondrodysplasia that has_material_basis_i..[+]
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autosomal recessive spinocerebellar ataxia 15 |
SCAR15
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An autosomal recessive cerebellar ataxia that has_..[+]
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autosomal recessive spinocerebellar ataxia 14 |
SCAR14
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An autosomal recessive cerebellar ataxia that is c..[+]
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autosomal recessive spinocerebellar ataxia 7 |
SCAR7
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An autosomal recessive cerebellar ataxia that is c..[+]
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autosomal recessive spinocerebellar ataxia 12 |
SCAR12
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An autosomal recessive cerebellar ataxia that is c..[+]
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autosomal recessive spinocerebellar ataxia 2 |
SCAR2
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An autosomal recessive cerebellar ataxia that is c..[+]
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autosomal recessive spinocerebellar ataxia 13 |
SCAR13
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An autosomal recessive cerebellar ataxia that is c..[+]
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autosomal recessive spinocerebellar ataxia 11 |
SCAR11
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An autosomal recessive cerebellar ataxia that has_..[+]
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autosomal recessive spinocerebellar ataxia 17 |
SCAR17
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An autosomal recessive cerebellar ataxia that has_..[+]
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autosomal recessive spinocerebellar ataxia 19 |
SCAR19; Lichtenstein-Knorr syndrome
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An autosomal recessive cerebellar ataxia that is c..[+]
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autosomal recessive spinocerebellar ataxia 20 |
SCAR20
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An autosomal recessive cerebellar ataxia that is c..[+]
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myofibrillar myopathy 3 |
spheroid body myopathy; myotilinopathy; autosomal ..
[+]
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A myofibrillar myopathy that has_material_basis_in..[+]
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mitochondrial DNA depletion syndrome 5 |
succinate-CoA ligase deficiency
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A mitochondrial DNA depletion syndrome that is cha..[+]
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autosomal recessive spinocerebellar ataxia 25 |
SCAR25
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An autosomal recessive cerebellar ataxia that has_..[+]
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autosomal recessive spinocerebellar ataxia 26 |
SCAR26
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An autosomal recessive cerebellar ataxia that has_..[+]
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cleft palate-lateral synechia syndrome |
syngnathia; CPLS syndrome
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A physical disorder that is characterized by fusio..[+]
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nephrotic syndrome type 2 |
steroid-resistant autosomal recessive nephrotic sy..
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A familial nephrotic syndrome characterized by ste..[+]
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Dravet syndrome |
severe myoclonic epilepsy of infancy; DEE6; develo..
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A developmental and epileptic encephalopathy chara..[+]
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COVID-19 |
SARS-CoV-2 infection; 2019 Novel Coronavirus (2019..
[+]
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A Coronavirus infectious disease that is character..[+]
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Teebi hypertelorism syndrome 1 |
SPECC1L-related hypertelorism syndrome; Opitz GBBB..
[+]
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A Teebi hypertelorism syndrome that has_material_b..[+]
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caudal regression syndrome |
A physical disorder that is characterized by impai..[+]
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lung sarcomatoid carcinoma |
Sarcomatoid carcinoma of the lung; pulmonary sarco..
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A lung carcinoma that is characterized by the pres..[+]
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RELA fusion-positive ependymoma |
Supratentorial C11ORF95-RELA fused ependymoma; C11..
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A supratentorial ependymoma that has_material_basi..[+]
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immunoglobulin light chain amyloidosis |
Systemic AL amyloidsis; AL amyloidosis; Light chai..
[+]
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An amyloidosis that is characterized by misfolded ..[+]
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wild-type amyloidosis |
senile systemic amyloidosis; Age related amyloidos..
[+]
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An amyloidosis that is characterized by progressiv..[+]
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cauda equina neuroendocrine tumor |
Spinal neuroendocrine tumors; Cauda equina neuroen..
[+]
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A cauda equina neoplasm that is a slow-growing, we..[+]
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congenital myopathy 5 |
Salih myopathy; congenital myopathy-5 with cardiom..
[+]
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A congenital myopathy that is characterized by the..[+]
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autosomal recessive distal hereditary motor neuronopathy 8 |
An autosomal recessive distal hereditary motor neu..[+]
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Nicolaides-Baraitser syndrome |
SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYND..
[+]
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A syndrome that is characterized by severely impai..[+]
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