Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	METACHONDROMATOSIS
Synonyms	METCDS
ID	http://purl.bioontology.org/ontology/OMIM/156250
altLabel	METCDS
cui	C0410530
Gene Locus	12q24.1
Gene Symbol	NS1 PTPN11 JMML SHP2 METCDS PTP2C
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	156250
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	METACHONDROMATOSIS
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/205481009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C562938	MESH	CUI
http://purl.bioontology.org/ontology/RCD/PG4A.	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/205481009	SCTSPA	CUI
http://purl.obolibrary.org/obo/MONDO_0007979	MONDO	LOOM
http://identifiers.org/omim/156250	REXO	LOOM
http://identifiers.org/omim/156250	GEXO	LOOM
http://identifiers.org/omim/156250	RETO	LOOM
rgo:12467	GAMUTS	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562938	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2311	HRDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205481009	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/DOID_0111512	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111512	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111512	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111512	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111512	FNS-H	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG4A.00	RCTV2	LOOM
http://purl.obolibrary.org/obo/MONDO_0007979	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007979	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007979	DOVES	LOOM
http://purl.bioontology.org/ontology/MESH/C562938	MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_156250	CCO	LOOM
http://purl.org/skeletome/bonedysplasia#Metachondromatosis	BDO	LOOM
http://purl.bioontology.org/ontology/RCD/PG4A.	RCD	LOOM
http://www.orpha.net/ORDO/Orphanet_2499	ORDO	LOOM