Concept information
Preferred term
Autosomal hereditary disorder
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- Aicardi Goutieres syndrome type 1
- Amyotrophic lateral sclerosis type 1
- Autoimmune lymphoproliferative syndrome
- Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
- Blount disease
- Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation
- Congenital fibre-type disproportion myopathy due to ACTA1 mutation
- Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
- Congenital long QT syndrome (disorder)
- Dominant hereditary disorder, NOS
- Erythropoietic protoporphyria
- Female infertility due to oocyte meiotic arrest
- Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
- Hypothyroidism due to TSH receptor mutation
- Intermediate nemaline myopathy
- Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder)
- Long QT syndrome type 10 (disorder)
- Long QT syndrome type 11 (disorder)
- Long QT syndrome type 12 (disorder)
- Long QT syndrome type 13 (disorder)
- Long QT syndrome type 2 (disorder)
- Long QT syndrome type 3 (disorder)
- Long QT syndrome type 4 (disorder)
- Long QT syndrome type 5 (disorder)
- Osteogenesis imperfecta type V
- Typical nemaline myopathy
- Waardenburg's syndrome
Is a
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/1899006
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