Jackson-Weiss Syndrome

Preferred Label : Jackson-Weiss Syndrome;

NCIt definition : A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and foot abnormalities. The craniosynostosis results in a malformed skull, widely spaced eyes, and a bulging forehead. The foot abnormalities consist of short and wide first toes, which bend away from the other toes. In addition, syndactyly in some toes may be present. The hands are almost always normal.;

Details

Origin ID

C123814;

UMLS CUI

C0795998;

Automatic exact mappings (from CISMeF team)
- Jackson-Weiss syndrome [DO Concept]
Currated CISMeF NLP mapping
- Jackson-Weiss syndrome [MeSH concept]
- Jackson-Weiss syndrome [ORDO Disease]
- Jackson-Weiss syndrome [MeSH Supplementary Concept]
- Jackson-Weiss syndrome (disorder) [SNOMED CT concept]
- Jackson-weiss syndrome [OMIM Phenotype]
DO Cross reference
- Jackson-Weiss syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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]
- Jackson-weiss syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FGFR2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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