Medical Subject Headings

Last uploaded: August 28, 2024
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Preferred Name

Metachondromatosis
Synonyms
ID

http://purl.bioontology.org/ontology/MESH/C562938
cui

C0410530
HM

D018210

D001859

D005097
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D005097

http://purl.bioontology.org/ontology/MESH/D001859

http://purl.bioontology.org/ontology/MESH/D018210
MDA

20121105
MeSH Frequency

12
notation

C562938
prefLabel

Metachondromatosis
SC

3
Scope Statement

mutation in PTPN11
TERMUI

T801863
TH

OMIM (2013)
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/156250 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/176876 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205481009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/PG4A. RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/205481009 SCTSPA CUI
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.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 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007979 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007979 DOVES 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