Search Diseases
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| Disease | Synonyms | Description | Articles | Phenotypes |
|---|---|---|---|---|
| autosomal dominant Robinow syndrome 1 |
DRS1;
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A Robinow syndrome characterized by autosomal domi..[+]
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| autosomal dominant Robinow syndrome 2 |
DRS2;
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A Robinow syndrome characterized by autosomal domi..[+]
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| autosomal dominant Robinow syndrome 3 |
DRS3;
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A Robinow syndrome characterized by autosomal domi..[+]
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| autosomal dominant adult-onset proximal spinal muscular atrophy |
autosomal dominant adult proximal spinal muscular ..
[+]
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A spinal muscular atrophy characterized by adult-o..[+]
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| autosomal dominant auditory neuropathy 1 |
AUNA1; nonsyndromic dominant auditory neuropathy; ..
[+]
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An autosomal dominant nonsyndromic deafness charac..[+]
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| autosomal dominant cerebellar ataxia |
spinocerebellar ataxia ;
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A hereditary ataxia that has_material_basis_in aut..[+]
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| autosomal dominant cerebellar ataxia, deafness and narcolepsy |
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n_a
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| autosomal dominant chondrodysplasia punctata |
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n_a
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| autosomal dominant cutis laxa |
ADCL;
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A cutis laxa characterized by autosomal dominant i..[+]
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| autosomal dominant cutis laxa 1 |
ADCL1;
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An autosomal dominant cutis laxa that has_material..[+]
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| autosomal dominant cutis laxa 2 |
ADCL2;
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An autosomal dominant cutis laxa that has_material..[+]
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| autosomal dominant cutis laxa 3 |
ADCL3;
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An autosomal dominant cutis laxa characterized by ..[+]
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| autosomal dominant disease |
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An autosomal genetic disease that is characterized..[+]
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| autosomal dominant dyskeratosis congenita 1 |
DKCA1; Dyskeratosis Congenita, Scoggins Type;
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A dyskeratosis congenita that has_material_basis_i..[+]
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| autosomal dominant dyskeratosis congenita 2 |
DKCA2;
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A dyskeratosis congenita that has_material_basis_i..[+]
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| autosomal dominant dyskeratosis congenita 3 |
DKCA3;
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A dyskeratosis congenita that has_material_basis_i..[+]
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| autosomal dominant dyskeratosis congenita 4 |
DKCA4;
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A dyskeratosis congenita that has_material_basis_i..[+]
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| autosomal dominant dyskeratosis congenita 6 |
DKCA6;
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A dyskeratosis congenita that has_material_basis_i..[+]
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| autosomal dominant familial periodic fever |
familial hibernian fever; TNF receptor 1-associate..
[+]
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A characterized by autosomal dominant inheritance ..[+]
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| autosomal dominant hypocalcemia |
HYPOC;
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A calcium metabolism disease characterized by auto..[+]
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| autosomal dominant hypocalcemia 1 |
HYPOC1;
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An autosomal dominant hypocalcemia disease that ha..[+]
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| autosomal dominant hypocalcemia 2 |
HYPOC2;
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An autosomal dominant hypocalcemia disease that ha..[+]
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| autosomal dominant hypophosphatemic rickets |
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A rickets characterized by low levels of serum pho..[+]
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| autosomal dominant intellectual developmental disorder |
autosomal dominant mental retardation; autosomal d..
[+]
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A intellectual disability characterized by an auto..[+]
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| autosomal dominant intellectual developmental disorder 2 |
autosomal dominant mental retardation 2; MRD2; aut..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 22 |
autosomal dominant mental retardation 22; MRD22; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 26 |
autosomal dominant mental retardation 26; MRD26; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 29 |
autosomal dominant mental retardation 29; MRD29; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 30 |
autosomal dominant mental retardation 30; MRD30; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 34 |
autosomal dominant mental retardation 34; MRD34; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 41 |
autosomal dominant mental retardation 41; MRD41; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 43 |
autosomal dominant mental retardation 43; MRD43; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 44 |
autosomal dominant mental retardation 44; MRD44; a..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 45 |
autosomal dominant mental retardation 45;
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 5 |
autosomal dominant mental retardation 5; MRD5; aut..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 51 |
autosomal dominant mental retardation 51;
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 55 |
autosomal dominant intellectual developmental diso..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 56 |
autosomal dominant intellectual developmental diso..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant intellectual developmental disorder 7 |
autosomal dominant mental retardation 7; MRD7; aut..
[+]
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An autosomal dominant intellectual developmental d..[+]
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| autosomal dominant isolated ectopia lentis 1 |
ECTOL1;
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An isolated ectopia lentis that has_material_basis..[+]
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| autosomal dominant keratitis-ichthyosis-deafness syndrome |
autosomal dominant KID syndrome;
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A syndrome characterized by congenital deafness, k..[+]
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| autosomal dominant keratosis follicularis spinulosa decalvans |
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A keratosis follicularis spinulosa decalvans that ..[+]
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| autosomal dominant limb-girdle muscular dystrophy |
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A limb-girdle muscular dystrophy that has_material..[+]
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| autosomal dominant limb-girdle muscular dystrophy type 1 |
LGMD1D; muscular dystrophy limb-girdle type 1D; mu..
[+]
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An autosomal dominant limb-girdle muscular dystrop..[+]
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| autosomal dominant limb-girdle muscular dystrophy type 1A |
LGMD1A; limb-girdle muscular dystrophy due to myot..
[+]
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An autosomal dominant limb-girdle muscular dystrop..[+]
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| autosomal dominant limb-girdle muscular dystrophy type 1B |
LGMD1B; Limb-girdle muscular dystrophy due to lami..
[+]
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An autosomal dominant limb-girdle muscular dystrop..[+]
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| autosomal dominant limb-girdle muscular dystrophy type 1C |
LGMD1C; limb-girdle muscular dystrophy due to cave..
[+]
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An autosomal dominant limb-girdle muscular dystrop..[+]
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| autosomal dominant limb-girdle muscular dystrophy type 1F |
LGMD1F; muscular dystrophy limb-girdle type 1F;
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An autosomal dominant limb-girdle muscular dystrop..[+]
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| autosomal dominant limb-girdle muscular dystrophy type 1G |
LGMD1G; muscular dystrophy limb-girdle type 1G;
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An autosomal dominant limb-girdle muscular dystrop..[+]
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| autosomal dominant limb-girdle muscular dystrophy type 1H |
LGMD1H; muscular dystrophy limb-girdle type 1H;
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An autosomal dominant limb-girdle muscular dystrop..[+]
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