Mondo Disease Ontology

Last uploaded: November 25, 2024

Preferred Name	Jackson-Weiss syndrome
Synonyms	craniosynostosis, midfacial hypoplasia, and foot abnormalities craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome Jackson-Weiss syndrome JWS
Definitions	Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
ID	http://purl.obolibrary.org/obo/MONDO_0007400
database_cross_reference	Orphanet:1540 NORD:1306 GARD:6796 MEDGEN:208653 UMLS:C0795998 DOID:0111337 ICD9:759.89 OMIM:123150 NCIT:C123814 SCTID:709105005 MESH:C537559
definition	Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
has_exact_synonym	craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome Jackson-Weiss syndrome JWS
has_related_synonym	craniosynostosis, midfacial hypoplasia, and foot abnormalities
id	MONDO:0007400
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	Jackson-Weiss syndrome
notation	MONDO:0007400
prefLabel	Jackson-Weiss syndrome
seeAlso	https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome
skos_exactMatch	http://identifiers.org/snomedct/709105005 http://linkedlifedata.com/resource/umls/id/C0795998 http://purl.obolibrary.org/obo/DOID_0111337 http://purl.obolibrary.org/obo/Orphanet_1540 http://identifiers.org/medgen/208653 https://omim.org/entry/123150 http://identifiers.org/mesh/C537559 http://purl.obolibrary.org/obo/NCIT_C123814
treeView	http://purl.obolibrary.org/obo/MONDO_0019796
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019796

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0007400	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007400	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007400	DOVES	SAME_URI
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
rgo:27105	GAMUTS	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	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007400	EFO	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	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111337	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111337	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111337	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111337	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537559	RH-MESH	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