Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Vulto-van Silfout-de Vries syndrome |
intellectual developmental disorder with impaired ..
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An autosomal dominant intellectual developmental d..[+]
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congenital nongoitrous hypothyroidism 4 |
isolated thyrotropin deficiency; CHNG4
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A congenital hypothyroidism characterized by a per..[+]
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hereditary sensory neuropathy type 4 |
insensitivity to pain, congenital, with anhidrosis..
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A hereditary sensory neuropathy characterized by i..[+]
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1 articles | |
spermatogenic failure 5 |
Infertility associated with multi-tailed spermatoz..
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A spermatogenic failure that is characterized by a..[+]
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miliaria profunda |
ICD10CM:L74.2; SNOMEDCT_US_2020_03_01:47317002
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A miliaria that is characterized by ductal occlusi..[+]
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classic dopamine transporter deficiency syndrome |
infantile parkinsonism-dystonia 1; classic DTDS; P..
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A dopamine transporter deficiency syndrome charact..[+]
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peeling skin syndrome 1 |
inflammatory peeling skin syndrome; generalized in..
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A peeling skin syndrome that has_material_basis_in..[+]
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peeling skin syndrome 4 |
A peeling skin syndrome that has_material_basis_in..[+]
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peeling skin syndrome 5 |
ichthyosis exfoliativa; autosomal recessive exfoli..
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A peeling skin syndrome that has_material_basis_in..[+]
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mucolipidosis II alpha/beta |
A mucolipidosis that is characterized by short sta..[+]
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nonsyndromic congenital nail disorder 8 |
isolated toenail dystrophy
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A nonsyndromic congenital nail disorder that is ch..[+]
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mitochondrial DNA depletion syndrome 7 |
infantile onset spinocerebellar ataxia; OHAHA SYND..
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A mitochondrial DNA depletion syndrome that is cha..[+]
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multiple mitochondrial dysfunctions syndrome 3 |
IBA57 deficiency
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A multiple mitochondrial dysfunctions syndrome tha..[+]
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mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma |
indeterminate bronchioloalveolar carcinoma; mixed ..
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A bronchiolo-alveolar adenocarcinoma that is chara..[+]
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nephrotic syndrome type 7 |
A familial nephrotic syndrome characterized by ons..[+]
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developmental and epileptic encephalopathy 35 |
ITPA-related encephalopathy; DEE35; early infantil..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 91 |
infantile or early childhood epileptic encephalopa..
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A developmental and epileptic encephalopathy chara..[+]
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hyper IgM syndrome |
immunodeficiency with hyper-IgM; HIGM; hyperimmuno..
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A hyperimmunoglobin syndrome that is characterized..[+]
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B-lymphoblastic leukemia/lymphoma with iAMP21 |
Intrachromosomal amplification of chromosome 21 (i..
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A B-lymphoblastic leukemia/lymphoma that is charac..[+]
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GNE myopathy |
inclusion body myopathy 2; Distal Myopathy with Ri..
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A myopathy that is characterized by progressive sk..[+]
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congenital myopathy 6 |
inclusion body myopathy 3; proximal myopathy and o..
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A congenital myopathy that is characterized by chi..[+]
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autosomal dominant beta thalassemia |
inclusion body beta-thalassemia
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A beta thalassemia that has_material_basis_in one ..[+]
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serum amyloid A amyloidosis |
inflammation AA amyloidosis; AA amyloidosis; Apo s..
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An amyloidosis that is characterized by sustained ..[+]
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RNASET2-deficient cystic leukoencephalopathy |
infantile-onset RNASET2 deficient cystic leukoence..
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A leukodystrophy that is characterized by non-prog..[+]
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glycosylphosphatidylinositol biosynthesis defect 16 |
Intellectual developmental disorder, autosomal rec..
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An autosomal recessive intellectual developmental ..[+]
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COX deficiency, benign infantile mitochondrial myopathy |
Isolated cytochrome C oxidase deficiency
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A cytochrome-c oxidase deficiency disease characte..[+]
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Nicolaides-Baraitser syndrome |
Intellectual disability-sparse hair-brachydactyly ..
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A syndrome that is characterized by severely impai..[+]
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CINCA Syndrome |
infantile-onset multisystem inflammatory disease; ..
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An autoimmune disease characterized by neonatal on..[+]
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hypogonadotropic hypogonadism |
isolated congenital gonadotropin deficiency; conge..
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A hypogonadism characterized by a impaired signall..[+]
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3 articles | |
hypogonadotropic hypogonadism 24 without anosmia |
isolated follicle-stimulating hormone deficiency
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A hypogonadotropic hypogonadism that has_material_..[+]
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aromatase excess syndrome |
increased aromatase activity; AEXS; familial hyper..
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A reproductive system disease characterized by inc..[+]
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brain small vessel disease 1 |
infantile hemiparesis; brain small vessel disease ..
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A brain small vessel disease that is characterized..[+]
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3-methylglutaconic aciduria type 3 |
A 3-methylglutaconic aciduria that has_material_ba..[+]
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neurodegeneration with brain iron accumulation 2a |
A neurodegeneration with brain iron accumulation t..[+]
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type 1 diabetes mellitus 2 |
Insulin-Dependent Diabetes Mellitus 2; IDDM2
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A type 1 diabetes mellitus that has_material_basis..[+]
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1 articles | |
type 1 diabetes mellitus 3 |
Insulin-Dependent Diabetes Mellitus 3; IDDM3
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 4 |
Insulin-Dependent Diabetes Mellitus 4; IDDM4
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 5 |
IDDM5; Insulin-Dependent Diabetes Mellitus 5
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 6 |
Insulin-Dependent Diabetes Mellitus 6; IDDM6
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 7 |
Insulin-Dependent Diabetes Mellitus 7; IDDM7
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 8 |
IDDM8; Insulin-Dependent Diabetes Mellitus 8
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A type 1 diabetes mellituss that has_material_basi..[+]
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type 1 diabetes mellitus 10 |
Insulin-Dependent Diabetes Mellitus 10; IDDM10
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 11 |
IDDM11; Insulin-Dependent Diabetes Mellitus 11
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 12 |
Insulin-Dependent Diabetes Mellitus 12; IDDM12
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 13 |
Insulin-Dependent Diabetes Mellitus 13; IDDM13
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A type 1 diabetes mellituss that has_material_basi..[+]
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type 1 diabetes mellitus 15 |
Insulin-Dependent Diabetes Mellitus 15; IDDM15
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 17 |
Insulin-Dependent Diabetes Mellitus 17; IDDM17
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 18 |
Insulin-Dependent Diabetes Mellitus 18; IDDM18
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 19 |
IDDM19; Insulin-Dependent Diabetes Mellitus 19
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 20 |
Insulin-Dependent Diabetes Mellitus 20; IDDM20
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A type 1 diabetes mellitus that has_material_basis..[+]
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