Autosomal Recessive Inheritance

Preferred Label : Autosomal Recessive Inheritance;

NCIt related terms : autosomal recessive;

Alternative definition : NCI-GLOSS: Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).;

Codes from synonyms : CDR0000339339;

Details

Origin ID

C94246;

UMLS CUI

C0441748;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive inheritance [HRDO Sign]
- coiled-coil and C2 domain containing 1A [HGNC gene]
- leucine rich melanocyte differentiation associated [HGNC gene]
- sarcoglycan gamma [HGNC gene]
- solute carrier family 26 member 5 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive inheritance [HPO term]
- Autosomal recessive inheritance (qualifier value) [SNOMED CT concept]
Semantic type(s)
- Genetic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive inheritance [HPO term]
- Autosomal recessive inheritance (qualifier value) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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