Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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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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focal nonepidermolytic palmoplantar keratoderma |
isolated focal non-epidermolytic palmoplantar kera..
[+]
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A nonepidermolytic palmoplantar keratoderma charac..[+]
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partial cryptophthalmia |
incomplete cryptophthalmos
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An isolated cryptophthalmia characterized by an il..[+]
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X-linked spinal muscular atrophy 2 |
infantile-onset X-linked spinal muscular atrophy; ..
[+]
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A spinal muscular atrophy characterized by neonata..[+]
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Tonne-Kalscheuer syndrome |
intellectual developmental disorder with or withou..
[+]
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A syndromic X-linked intellectual disability chara..[+]
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X-Linked immunodeficiency 74 |
IMD74; respiratory insufficiency due to SARS-CoV-2..
[+]
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A T cell deficiency characterized by severe respir..[+]
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SHOX-related short stature |
idiopathic familial short stature
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A bone development disease characterized by height..[+]
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severe congenital neutropenia 3 |
infantile agranulocytosis; Kostmann disease; Kostm..
[+]
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A severe congenital neutropenia characterized by b..[+]
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thyroid dyshormonogenesis 1 |
iodide accumulation, transport, or trapping defect..
[+]
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A familial thyroid dyshormonogenesis that has_mate..[+]
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thyroid dyshormonogenesis 2A |
iodide peroxidase deficiency; TDH2A; thyroid perox..
[+]
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A familial thyroid dyshormonogenesis that has_mate..[+]
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thyroid dyshormonogenesis 4 |
iodotyrosine dehalogenase deficiency; deiodinase d..
[+]
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A familial thyroid dyshormonogenesis that has_mate..[+]
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developmental and epileptic encephalopathy 93 |
infantile or early childhood epileptic encephalopa..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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