Bent bone dysplasia syndrome 1

Preferred Label : Bent bone dysplasia syndrome 1;

Symbol : BBDS1;

CISMeF acronym : BBDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : BBDS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0043);

Prefixed ID : #614592;

Details

Origin ID

614592;

UMLS CUI

C3281247;

Automatic exact mappings (from CISMeF team)
- Campomelic dysplasia and related disorders [ORDO Disease]
- FGFR2 wt Allele [NCIt concept]
- FGFR2-related bent bone dysplasia [ORDO Disease]
DO Cross reference
- pre-eclampsia [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 2 [OMIM gene]
HPO term(s)
- Abnormally large globe [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Brachydactyly [HPO term]
- Clitoral hypertrophy [HPO term]
- Coronal craniosynostosis [HPO term]
- Gingival overgrowth [HPO term]
- Hepatosplenomegaly [HPO term]
- Hirsutism [HPO term]
- Hypertelorism [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Short clavicles [HPO term]
ORDO concept(s)
- FGFR2-related bent bone dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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