Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

METACHONDROMATOSIS
Synonyms

METCDS
ID

http://purl.bioontology.org/ontology/OMIM/156250
altLabel

METCDS
cui

C0410530
Gene Locus

12q24.1
Gene Symbol

PTPN11

JMML

METCDS

PTP2C

NS1

SHP2
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

156250
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

METACHONDROMATOSIS
tui

T047
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http://purl.bioontology.org/ontology/MESH/C562938 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562938 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0111512 Human Disease Ontology 123 LOOM