Jackson-weiss syndrome

Preferred Label : Jackson-weiss syndrome;

Symbol : JWS;

CISMeF acronym : JWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniosynostosis, midfacial hypoplasia, and foot abnormalities;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0001); Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0007);

Prefixed ID : #123150;

Details

Origin ID

123150;

UMLS CUI

C0795998;

Automatic exact mappings (from CISMeF team)
- FGFR2 wt Allele [NCIt concept]
- Jackson-Weiss syndrome [DO Concept]
- symbol withdrawn JWS [HGNC gene]
Currated CISMeF NLP mapping
- Jackson-Weiss Syndrome [NCIt concept]
- Jackson-Weiss syndrome [MeSH concept]
- Jackson-Weiss syndrome [MeSH Supplementary Concept]
- Jackson-Weiss syndrome [ORDO Disease]
- Jackson-Weiss syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Jackson-Weiss syndrome [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 1 [OMIM gene]
- Fibroblast growth factor receptor 2 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Broad metatarsal [HPO term]
- Calcaneonavicular fusion [HPO term]
- Craniosynostosis [HPO term]
- Hallux varus [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Short metatarsal [HPO term]
- Short, broad metatarsals [HPO term]
- medially deviated, broad great toes [HPO term]
ORDO concept(s)
- Jackson-Weiss syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jackson-Weiss Syndrome [NCIt concept]
- Jackson-Weiss syndrome [ORDO Disease]
- Jackson-Weiss syndrome [MeSH Supplementary Concept]
- Jackson-Weiss syndrome [MeSH concept]
- Jackson-Weiss syndrome [DO Concept]
- Jackson-Weiss syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients