Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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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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2 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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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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type 1 diabetes mellitus 21 |
Insulin-Dependent Diabetes Mellitus 21; IDDM21
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 22 |
Insulin-Dependent Diabetes Mellitus 22; IDDM22
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 23 |
Insulin-Dependent Diabetes Mellitus 23; IDDM23
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A type 1 diabetes mellitus that has_material_basis..[+]
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type 1 diabetes mellitus 24 |
Insulin-Dependent Diabetes Mellitus 24; IDDM24
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A type 1 diabetes mellitus that has_material_basis..[+]
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hereditary spastic paraplegia 18 |
intellectual disability, motor dysfunction and joi..
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A hereditary spastic paraplegia that has_material_..[+]
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leukocyte adhesion deficiency 3 |
A leukocyte adhesion deficiency that is characteri..[+]
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autosomal recessive osteopetrosis 5 |
infantile malignant osteopetrosis 3; OPTB5
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An osteopetrosis characterized by autosomal recess..[+]
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autosomal recessive osteopetrosis 1 |
infantile malignant osteopetrosis 1; autosomal rec..
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An osteopetrosis characterized by autosomal recess..[+]
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autosomal recessive osteopetrosis 4 |
infantile malignant osteopetrosis 2; OPTB4
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An osteopetrosis characterized by autosomal recess..[+]
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Gaucher's disease type II |
Infantile Cerebral Gaucher Disease; Gaucher Diseas..
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A Gaucher's disease characterized by rapid neurolo..[+]
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African iron overload |
iron overload in Africa; Bantu siderosis
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A hemochromatosis characterized by a predispositio..[+]
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congenital bile acid synthesis defect 4 |
intrahepatic cholestasis with defective conversion..
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A congenital bile acid synthesis defect characteri..[+]
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nephronophthisis 2 |
infantile nephronophthisis 2; NPHP2; NPH2
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A nephronophthisis that has_material_basis_in homo..[+]
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2 articles | 21 matches |
congenital mirror movement disorder |
A movement disease characterized by involuntary mo..[+]
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postural orthostatic tachycardia syndrome |
irritable heart; familial orthostatic tachycardia ..
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A heart conduction disease characterized by orthos..[+]
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adermatoglyphia |
A skin disease characterized by lack of epidermal ..[+]
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combined oxidative phosphorylation deficiency 16 |
infantile hypertrophic cardiomyopathy due to MRPL4..
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 10 |
infantile hypertrophic mitochondrial cardiomyopath..
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 11 |
infantile encephaloneuromyopathy due to mitochondr..
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A combined oxidative phosphorylation deficiency ch..[+]
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bilateral optic nerve hypoplasia |
isolated optic nerve hypoplasia/aplasia; familial ..
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An optic nerve disease characterized by isolated o..[+]
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multicentric carpotarsal osteolysis syndrome |
idiopathic multicentric osteolysis with or without..
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A syndrome characterized by progressive loss of bo..[+]
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prolidase deficiency |
imidodipeptidase deficiency; hyperimidodipeptiduri..
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An amino acid metabolic disorder characterized by ..[+]
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autosomal recessive spinocerebellar ataxia 6 |
infantile-onset autosomal recessive nonprogressive..
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An autosomal recessive cerebellar ataxia character..[+]
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hyaline fibromatosis syndrome |
inherited systemic hyalinosis; HFS; puretic syndro..
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A connective tissue disease characterized by abnor..[+]
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