Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Jackson-Weiss syndrome
Synonyms

JWS

Definitions

(JWS) - An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet - broad great toes with medial deviation and tarsal-metatarsal coalescence.

ID

http://identifiers.org/omim/123150

altLabel

JWS

definition

(JWS) - An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet - broad great toes with medial deviation and tarsal-metatarsal coalescence.

id

OMIM:123150

notation

OMIM:123150

prefLabel

Jackson-Weiss syndrome

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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Mapping To Ontology Source
http://identifiers.org/omim/123150 REXO SAME_URI
http://identifiers.org/omim/123150 GEXO SAME_URI
http://purl.obolibrary.org/obo/DOID_0111337 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007400 MONDO 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://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