Brachydactyly, type e1

Preferred Label : Brachydactyly, type e1;

Symbol : BDE1;

CISMeF acronym : BDE; BDE1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brachydactyly, type e; BDE;

Inheritance : Autosomal dominant;

Prefixed ID : #113300;

Details

Origin ID

113300;

UMLS CUI

C1862102;

Automatic exact mappings (from CISMeF team)
- Brachydactyly type E [ORDO Disease]
- HOXD13 wt Allele [NCIt concept]
- N,N'-bis(dodecyldimethyl)-1,2-ethanediammonium [MeSH concept]
- N,N'-bis(dodecyldimethyl)-1,2-ethanediammonium [MeSH Supplementary Concept]
- Type E brachydactyly [HPO term]
- brachydactyly, type E [MeSH concept]
- brachydactyly, type E [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Brachydactyly type E [ORDO Disease]
Currated CISMeF NLP mapping
- brachydactyly type E1 [DO Concept]
DO Cross reference
- brachydactyly type E1 [DO Concept]
Genes related to phenotype
- Homeobox d13 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Moderately short stature [HPO term]
- Multiple impacted teeth [HPO term]
- Round face [HPO term]
- Short clavicles [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Straight and short clavicles [HPO term]
- Straight clavicles [HPO term]
- Type E brachydactyly [HPO term]
ORDO concept(s)
- Brachydactyly type E [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Type E brachydactyly [HPO term]
- brachydactyly type E1 [DO Concept]
- brachydactyly, type E [MeSH Supplementary Concept]
- brachydactyly, type E [MeSH concept]
Validated automatic mappings to NTBT
- Brachydactyly syndrome type E (disorder) [SNOMED CT concept]
- Brachydactyly type E [ICD-11 More detail]

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