Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Mast syndrome |
SPG21; autosomal recessive spastic paraplegia 21; ..
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A hereditary spastic paraplegia associated with de..[+]
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MASA syndrome |
SPG1; CRASH syndrome; Gareis-Mason syndrome; hered..
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A hereditary spastic paraplegia that is characteri..[+]
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blepharophimosis-intellectual disability syndrome, SBBYS type |
n_a
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cold-induced sweating syndrome |
Sohar-Crisponi syndrome; Crisponi syndrome
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An autosomal dominant disease characterized by pro..[+]
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glucocorticoid-induced osteoporosis |
steroid-induced osteoporosis
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An osteoporosis caused by chronic glucocorticoid u..[+]
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hypoparathyroidism-retardation-dysmorphism syndrome |
Sanjad-Sakati syndrome; HRD syndrome; hypoparathyr..
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An autosomal recessive disease characterized by pe..[+]
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orofaciodigital syndrome III |
Sugarman syndrome
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n_a
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chromosome 1p36 deletion syndrome |
subtelomeric 1p36 deletion; 1p36 deletion syndrome..
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n_a
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gelatinous drop-like corneal dystrophy |
subepithelial amyloidosis of the cornea; corneal a..
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An epithelial and subepithelial dystrophy that is ..[+]
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Meesmann corneal dystrophy |
Stocker-Holt dystrophy; juvenile hereditary epithe..
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n_a
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posterior polymorphous corneal dystrophy |
Schlichting dystrophy; hereditary polymorphus post..
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A corneal dystrophy that is characterised by chang..[+]
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EAST syndrome |
A syndrome characterize by seizures, sensorineural..[+]
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tomato allergy |
Solanum lycopersicum fruit allergy
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A fruit allergy triggered by Solanum lycopersicum ..[+]
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Atlantic salmon allergy |
Salmo salar fish allergy
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A fish allergy triggered by Salmo salar.
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green mud crab allergy |
Scylla paramamosain allergy
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A crustacean allergy triggered by Scylla paramamos..[+]
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atypical chronic myeloid leukemia, BCR-ABL1 negative |
A myelodysplastic myeloproliferative neoplasm char..[+]
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ulnar-mammary syndrome |
Schinzel syndrome; Pallister ulnar-mammary syndrom..
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A syndrome that has_material_basis_in heterozygous..[+]
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recessive dystrophic epidermolysis bullosa |
severe generalized recessive dystrophic epidermoly..
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An epidermolysis bullosa dystrophica characterized..[+]
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corneal opacification and other ocular anomalies |
sclerocornea with other ocular anomalies
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A sclerocornea that has_material_basis_in homozygo..[+]
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hyperekplexia |
startle disease; congenital stiff man syndrome; fa..
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A nervous system disease characterized by an exagg..[+]
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T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
severe T-cell immunodeficiency-congenital alopecia..
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A severe combined immunodeficiency characterized b..[+]
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cleft lip-palate-ectodermal dysplasia syndrome |
syndactyly-ectodermal dysplasia-cleft/lip palate; ..
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An autosomal recessive disease characterized by cl..[+]
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MEHMO syndrome |
A syndromic X-linked intellectual disability chara..[+]
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isolated growth hormone deficiency type IA |
sexual ateleiotic dwarfism; autosomal recessive is..
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An isolated growth hormone deficiency characterize..[+]
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ichthyosis bullosa of Siemens |
superficial epidermolytic ichthyosis; bullous type..
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An ichthyosis characterized by autosomal dominant ..[+]
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Y-linked spermatogenic failure 1 |
SPGFY1; type I Sertoli cell-only syndrome; Y-linke..
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A Sertoli cell-only syndrome that has_material_bas..[+]
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X-linked spermatogenic failure 1 |
SPGFX1
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A Sertoli cell-only syndrome characterized by X-li..[+]
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benign recurrent intrahepatic cholestasis |
Summerskill-Walshe-Tygstrup syndrome; BRIC
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An intrahepatic cholestasis characterized by inter..[+]
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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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autosomal recessive spinocerebellar ataxia 28 |
SCAR28
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An autosomal recessive cerebellar ataxia character..[+]
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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 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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pseudoachondroplasia |
SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTI..
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An osteochondrodysplasia that has_material_basis_i..[+]
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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 20 |
SCAR20
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An autosomal recessive cerebellar ataxia that is c..[+]
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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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immunoglobulin light chain amyloidosis |
Systemic AL amyloidsis; AL amyloidosis; Amyloidosi..
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An amyloidosis that is characterized by misfolded ..[+]
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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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progressive pseudorheumatoid arthropathy of childhood |
spondyloepiphyseal dysplasia tarda-progressive art..
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A osteochondrodysplasia characterized by autosomal..[+]
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Cenani-Lenz syndactyly syndrome |
syndactyly type 7
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A dysostosis characterized by syndactyly, malforma..[+]
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brachyolmia-amelogenesis imperfecta syndrome |
An autosomal recessive disease characterized by sk..[+]
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Donnai-Barrow syndrome |
syndrome of ocular and facial anomalies, telecanth..
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An autosomal recessive disease characterized by fa..[+]
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asphyxiating thoracic dystrophy 1 |
An asphyxiating thoracic dystrophy associated with..[+]
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asphyxiating thoracic dystrophy 2 |
An asphyxiating thoracic dystrophy that has_materi..[+]
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asphyxiating thoracic dystrophy 3 |
An asphyxiating thoracic dystrophy that has_materi..[+]
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asphyxiating thoracic dystrophy 4 |
An asphyxiating thoracic dystrophy has_material_ba..[+]
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asphyxiating thoracic dystrophy 5 |
An asphyxiating thoracic dystrophy that has_materi..[+]
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