Digital clubbing, isolated congenital

Preferred Label : Digital clubbing, isolated congenital;

Symbol : DIGC;

CISMeF acronym : DIGC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acropachy, hereditary; Clubbing of digits;

Description : Digital clubbing is characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx (Myers and Farquhar, 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hydroxyprostaglandin dehydrogenase 15-(NAD) gene (HPGD, 119900.0004);

Prefixed ID : #119900;

Détails

Origin ID

119900;

UMLS CUI

C0345408;

Automatic exact mappings (from CISMeF team)
- Clubbing [HPO term]
- Digital Clubbing [NCIt concept]
- Digital clubbing [ICD-11 More detail]
- Hereditary clubbing (disorder) [SNOMED CT concept]
- osteoarthropathy, primary hypertrophic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Isolated congenital digital clubbing [ORDO Disease]
- digital clubbing, isolated congenital [MeSH concept]
Genes related to phenotype
- 15-hydroxyprostaglandin dehydrogenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Clubbing [HPO term]
- Congenital onset [HPO term]
ORDO concept(s)
- Isolated congenital digital clubbing [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary clubbing (disorder) [SNOMED CT concept]
- Hippocratic fingers [MedDRA LLT]
- Isolated congenital digital clubbing [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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