Brachydactyly, type C

Preferred Label : Brachydactyly, type C;

Symbol : BDC;

CISMeF acronym : BDC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brachydactyly, haws type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the growth/differentiation factor-5 gene (GDF5, 601146.0006);

Prefixed ID : #113100;

Details

Origin ID

113100;

UMLS CUI

C1862103;

Automatic exact mappings (from CISMeF team)
- Collecting Duct Carcinoma [NCIt concept]
- Collecting duct carcinoma [ORDO Disease]
- beta-catenin destruction complex [GO term]
- heart sounds [MeSH Descriptor]
Currated CISMeF NLP mapping
- Brachydactyly type C [ICD-11 More detail]
- Brachydactyly type C [MeSH concept]
- Brachydactyly type C [ORDO Disease]
- Type C brachydactyly [HPO term]
- brachydactyly type C [DO Concept]
- brachydactyly type C [MeSH Supplementary Concept]
DO Cross reference
- brachydactyly type C [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cone-shaped epiphyses of the middle phalanges of the hand [HPO term]
- Delayed skeletal maturation [HPO term]
- Disproportionate shortening of 2nd and 3rd fingers [HPO term]
- Enlarged epiphysis of the middle phalanx of the 2nd finger [HPO term]
- Enlarged epiphysis of the middle phalanx of the 3rd finger [HPO term]
- Enlarged epiphysis of the proximal phalanx of the 2nd finger [HPO term]
- Enlarged epiphysis of the proximal phalanx of the 3rd finger [HPO term]
- Hypersegmentation of proximal phalanx of second finger [HPO term]
- Hypersegmentation of proximal phalanx of third finger [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Madelung deformity [HPO term]
- Polydactyly [HPO term]
- Pseudoepiphyses of the 3rd finger [HPO term]
- Pseudoepiphysis of the 2nd finger [HPO term]
- Short 1st metacarpal [HPO term]
- Short 2nd finger [HPO term]
- Short 3rd finger [HPO term]
- Short middle phalanx of finger [HPO term]
- Short stature [HPO term]
- Talipes equinovalgus [HPO term]
- Talipes equinovarus [HPO term]
- Triangular epiphysis of the middle phalanx of the 2nd finger [HPO term]
- Triangular epiphysis of the middle phalanx of the 3rd finger [HPO term]
- Triangular epiphysis of the proximal phalanx of the 2nd finger [HPO term]
- Triangular epiphysis of the proximal phalanx of the 3rd finger [HPO term]
- Triangular shaped middle phalanx of the 2nd finger [HPO term]
- Triangular shaped middle phalanx of the 3rd finger [HPO term]
- Triangular shaped proximal phalanx of the 2nd finger [HPO term]
- Triangular shaped proximal phalanx of the 3rd finger [HPO term]
- Ulnar deviation of the 2nd finger [HPO term]
- Ulnar deviation of the 3rd finger [HPO term]
ORDO concept(s)
- Brachydactyly type C [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly type C [ORDO Disease]
- Brachydactyly type C [MeSH concept]
- Brachydactyly type C [ICD-11 More detail]
- Type C brachydactyly [HPO term]
- brachydactyly type C [MeSH Supplementary Concept]
- brachydactyly type C [DO Concept]

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