Macrodactyly - CISMeF

Preferred Label : Macrodactyly;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MEGALODACTYLY;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0001);

Prefixed ID : #155500;

Details

Origin ID

155500;

UMLS CUI

C0265552;

Currated CISMeF NLP mapping
- Congenital macrodactyly (disorder) [SNOMED CT concept]
- Macrodactyly [PASCAL descriptor]
- Macrodactyly [HPO term]
- Macrodactyly [MedDRA Preferred Term]
- Macrodactyly [NCIt concept]
- macrodactyly [Disease (Nov.)]
- megalodactyly [MeSH concept]
- megalodactyly [MeSH Supplementary Concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
HPO term(s)
- Macrodactyly [HPO term]
- Somatic mutation [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital macrodactyly (disorder) [SNOMED CT concept]
- Macrodactyly [MedDRA Preferred Term]
- Macrodactyly [NCIt concept]
- Macrodactyly [HPO term]
- Macrodactyly [PASCAL descriptor]
- congenital macrodactylia [SNOMED Notion]
- macrodactyly [Disease (Nov.)]
- megalodactyly [MeSH Supplementary Concept]
- megalodactyly [MeSH concept]

Keyword's position in hierarchy(ies) :

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