Autosomal Dominant Inheritance

Preferred Label : Autosomal Dominant Inheritance;

NCIt related terms : autosomal dominant;

Alternative definition : NCI-GLOSS: Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).;

Codes from synonyms : CDR0000339338;

Details

Origin ID

C94245;

UMLS CUI

C0443147;

Automatic exact mappings (from CISMeF team)
- Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a [OMIM Phenotype]
- chloride voltage-gated channel 1 [HGNC gene]
- phosphodiesterase 6B [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant inheritance [HPO term]
- Autosomal dominant inheritance [HRDO Sign]
- Autosomal dominant inheritance (qualifier value) [SNOMED CT concept]
Semantic type(s)
- Genetic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant inheritance [HPO term]
- Autosomal dominant inheritance [HRDO Sign]
- Autosomal dominant inheritance (qualifier value) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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