FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

metachondromatosis
Synonyms
Definitions

An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in PTPN11 on chromosome 12q24.13.
ID

http://purl.obolibrary.org/obo/DOID_0111512
definition

An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in PTPN11 on chromosome 12q24.13.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

metachondromatosis
prefixIRI

DOID:0111512
prefLabel

metachondromatosis
subClassOf

http://purl.obolibrary.org/obo/DOID_2256

http://purl.obolibrary.org/obo/DOID_0050736
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http://purl.obolibrary.org/obo/DOID_0111512 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0111512 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0111512 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0111512 NIFSTD SAME_URI
http://identifiers.org/omim/156250 REXO LOOM
http://identifiers.org/omim/156250 GEXO LOOM
http://identifiers.org/omim/156250 RETO LOOM
http://purl.bioontology.org/ontology/OMIM/156250 OMIM 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.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 MONDO 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