Acrodysostosis 1

Preferred Label : Acrodysostosis 1;

NCIt synonyms : ACRDYS1;

NCIt definition : An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.;

NCI Metathesaurus CUI : CL523767;

Details

Origin ID

C136464;

UMLS CUI

C4522319;

Currated CISMeF NLP mapping
- Acrodysostosis 1 with or without hormone resistance [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- acrodysostosis [MeSH Supplementary Concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PRKAR1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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