Concept information
Preferred term
Autosomal hereditary disorder
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 2-hydroxyglutaric aciduria
- 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency
- Acral dystrophic epidermolysis bullosa (disorder)
- Actin accumulation myopathy (disorder)
- Anophthalmia with pulmonary hypoplasia syndrome
- Autosomal spastic paraplegia type 30 (disorder)
- Autosomal spastic paraplegia type 72
- Autosomal systemic lupus erythematosus (disorder)
- Bifid nose (disorder)
- Bleeding diathesis due to collagen receptor defect
- Cataract and microcornea syndrome (disorder)
- CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome
- Charcot-Marie-Tooth disease type 2P (disorder)
- CMAMMA - combined malonic and methylmalonic aciduria
- Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
- Corticosteroid-binding globulin deficiency (disorder)
- Deafness with onychodystrophy syndrome
- Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
- Distal arthrogryposis syndrome
- Dominant hereditary disorder, NOS
- Dystrophic epidermolysis bullosa nails only (disorder)
- Erythrokeratodermia variabilis
- Familial cerebral saccular aneurysm (disorder)
- Familial primary hypomagnesemia with normocalciuria (disorder)
- Female infertility due to zona pellucida defect (disorder)
- Fibrochondrogenesis
- Fundus albipunctatus
- Genetic hyperferritinemia without iron overload
- Gower's muscular dystrophy
- Hartsfield syndrome
- Hereditary anetoderma (disorder)
- Hereditary glucocorticoid resistance (disorder)
- Hereditary hyperekplexia (disorder)
- Hereditary hypotrichosis simplex (disorder)
- Hereditary isolated aplastic anemia
- Hyperandrogenism due to cortisone reductase deficiency
- Hypomagnesemia co-occurrent with normocalciuria (disorder)
- Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder)
- Isolated hereditary congenital facial paralysis (disorder)
- MMPSI - malignant migrating partial seizures of infancy
- Oculoectodermal syndrome
- Omodysplasia (disorder)
- Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
- Rare isolated myopia
- Recessive hereditary disorder, NOS
- Short stature due to GHSR (growth hormone secretagogue receptor) deficiency
- Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)
- Transient bullous dermolysis of newborn (disorder)
- von Willebrand disease type 2
- Waardenburg's syndrome
Is a
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/1899006
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