Symphalangism, proximal, 1b

Preferred Label : Symphalangism, proximal, 1b;

Symbol : SYM1B;

CISMeF acronym : SYM1B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in growth/differentiation factor 5 (GDF5, 601146.0011);

Prefixed ID : #615298;

Details

Origin ID

615298;

UMLS CUI

C3809104;

Automatic exact mappings (from CISMeF team)
- GDF5 wt Allele [NCIt concept]
Genes related to phenotype
- Growth/differentiation factor 5 [OMIM gene]
HPO term(s)
- Abnormal finger flexion creases [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Pes planus [HPO term]
- Proximal/middle symphalangism of 5th finger [HPO term]
- Short 2nd finger [HPO term]
ORDO concept(s)
- Proximal symphalangism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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