Brachydactyly-syndactyly syndrome

Preferred Label : Brachydactyly-syndactyly syndrome;

Symbol : BDSD;

CISMeF acronym : BDSD; BDSDO;

Type : Phenotype, molecular basis known;

Included titles and symbols : Brachydactyly-syndactyly-oligodactyly syndrome; BDSDO;

Prefixed ID : #610713;

Details

Origin ID

610713;

UMLS CUI

C1853137;

Automatic exact mappings (from CISMeF team)
- Brachydactyly-syndactyly, Zhao type [ORDO Disease]
- HOXD13 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Brachydactyly-Syndactyly syndrome [MeSH concept]
- Brachydactyly-Syndactyly syndrome [MeSH Supplementary Concept]
- brachydactyly syndactyly syndrome [Disease (Nov.)]
- brachydactyly-syndactyly syndrome [DO Concept]
DO Cross reference
- brachydactyly-syndactyly syndrome [DO Concept]
Genes related to phenotype
- Homeobox d13 [OMIM gene]
HPO term(s)
- Brachydactyly [HPO term]
- Camptodactyly [HPO term]
- Finger syndactyly [HPO term]
- Oligodactyly [HPO term]
- Short digit [HPO term]
- Short phalanx of finger [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Brachydactyly-syndactyly, Zhao type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly-Syndactyly syndrome [MeSH Supplementary Concept]
- Brachydactyly-Syndactyly syndrome [MeSH concept]
- brachydactyly syndactyly syndrome [Disease (Nov.)]
- brachydactyly-syndactyly syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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