Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

PARASTREMMATIC DWARFISM
ID

http://purl.bioontology.org/ontology/OMIM/168400
cui

C1868616
Gene Locus

12q24.1
Gene Symbol

SSQTL1

SMAL

BCYM3

HMSN2C

TRPV4

SPSMA

VROAC

CMT2C
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

168400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PARASTREMMATIC DWARFISM
tui

T019
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111539 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C537172 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537172 Medical Subject Headings LOOM