Brachydactyly, type e2

Preferred Label : Brachydactyly, type e2;

Symbol : BDE2;

CISMeF acronym : BDE2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the parathyroid hormone-like hormone gene (PTHLH, 168470.0001);

Prefixed ID : #613382;

Details

Origin ID

613382;

UMLS CUI

C3150644;

Automatic exact mappings (from CISMeF team)
- Brachydactyly type E [ORDO Disease]
- PTHLH wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- brachydactyly type E2 [DO Concept]
DO Cross reference
- brachydactyly type E2 [DO Concept]
Genes related to phenotype
- Parathyroid hormone-like hormone [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Delayed eruption of teeth [HPO term]
- Oligodontia [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Brachydactyly type E [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- brachydactyly type E2 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients