Brachydactyly, type D

Preferred Label : Brachydactyly, type D;

Symbol : BDD;

CISMeF acronym : BDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Stub thumb;

Inheritance : Autosomal dominant;

Prefixed ID : #113200;

Details

Origin ID

113200;

UMLS CUI

C0220664;

Automatic exact mappings (from CISMeF team)
- 7,7'-dimethoxy-(4,4'-bi-1,3-benzodioxole)-5,5'-dicarboxylic acid dimethyl ester [MeSH concept]
- 7,7'-dimethoxy-(4,4'-bi-1,3-benzodioxole)-5,5'-dicarboxylic acid dimethyl ester [MeSH Supplementary Concept]
- database [CISMeF resources Type]
- databases as topic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Brachydactyly type D [ICD-11 More detail]
- Brachydactyly type D [ORDO Disease]
- Brachydactyly type D (disorder) [SNOMED CT concept]
- Type D brachydactyly [HPO term]
- brachydactyly type D [DO Concept]
- brachydactyly, type D [MeSH concept]
- brachydactyly, type D [MeSH Supplementary Concept]
DO Cross reference
- brachydactyly type D [DO Concept]
Genes related to phenotype
- Homeobox d13 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad distal phalanx of the hallux [HPO term]
- Broad distal phalanx of the thumb [HPO term]
- Short, broad distal phalanges [HPO term]
- Type D brachydactyly [HPO term]
ORDO concept(s)
- Brachydactyly type D [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly type D [ORDO Disease]
- Brachydactyly type D [ICD-11 More detail]
- Brachydactyly type D (disorder) [SNOMED CT concept]
- Type D brachydactyly [HPO term]
- brachydactyly type D [DO Concept]
- brachydactyly, type D [MeSH Supplementary Concept]
- brachydactyly, type D [MeSH concept]

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