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Preferred Name

Jackson-Weiss syndrome
Synonyms

JWS

craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Definitions

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.
ID

http://purl.obolibrary.org/obo/DOID_0111337
alternative label

JWS

craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
database_cross_reference

SNOMEDCT_US_2023_03_01:709105005

OMIM:123150

UMLS_CUI:C0795998

MESH:C537559

NCI:C123814

GARD:6796

ORDO:1540
definition

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.
has exact synonym

JWS

craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
has material basis in

http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace

disease_ontology
id

DOID:0111337
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

Jackson-Weiss syndrome
notation

DOID:0111337
note

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.
preferred label

Jackson-Weiss syndrome
prefLabel

Jackson-Weiss syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225
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http://purl.obolibrary.org/obo/DOID_0111337 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0111337 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0111337 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0111337 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_0111337 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007400 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007400 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0111337 DOID LOOM
http://purl.obolibrary.org/obo/OMIM_123150 CCO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#48950 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123814 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0795998 OCHV LOOM
http://www.orpha.net/ORDO/Orphanet_1540 ORDO LOOM
http://identifiers.org/omim/123150 REXO LOOM
http://identifiers.org/omim/123150 GEXO LOOM
http://identifiers.org/omim/123150 RETO LOOM
http://purl.obolibrary.org/obo/MONDO_0007400 DOVES LOOM
http://purl.bioontology.org/ontology/OMIM/123150 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/C537559 MESH LOOM
http://purl.obolibrary.org/obo/DOID_0111337 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111337 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537559 RH-MESH LOOM
http://www.gamuts.net/entity#Jackson_Weiss_syndrome GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1699 HRDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/709105005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C123814 BERO LOOM
http://purl.org/skeletome/bonedysplasia#Jackson-Weiss_syndrome BDO LOOM