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DO Term : Jackson-Weiss syndrome [DOID:0111337] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.

synonyms:
GARD:6796,
UMLS_CUI:C0795998,
OMIM:123150,
123150,
SNOMEDCT_US_2023_03_01:709105005,
JWS,
craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome,
ORDO:1540,
NCI:C123814,
MESH:C537559

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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