Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SPONDYLOPERIPHERAL DYSPLASIA
Synonyms

SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA
ID

http://purl.bioontology.org/ontology/OMIM/271700
altLabel

SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA
cui

C0796173
Gene Locus

12q13.11-q13.2
Gene Symbol

COL2A1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001105

http://purl.bioontology.org/ontology/OMIM/MTHU006913

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU009252

http://purl.bioontology.org/ontology/OMIM/MTHU000601

http://purl.bioontology.org/ontology/OMIM/MTHU009248

http://purl.bioontology.org/ontology/OMIM/MTHU009256

http://purl.bioontology.org/ontology/OMIM/MTHU009254

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU008423

http://purl.bioontology.org/ontology/OMIM/MTHU001959

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU028633

http://purl.bioontology.org/ontology/OMIM/MTHU009249

http://purl.bioontology.org/ontology/OMIM/MTHU003736

http://purl.bioontology.org/ontology/OMIM/MTHU007868

http://purl.bioontology.org/ontology/OMIM/MTHU001976

http://purl.bioontology.org/ontology/OMIM/MTHU002335

http://purl.bioontology.org/ontology/OMIM/MTHU009257

http://purl.bioontology.org/ontology/OMIM/MTHU009255

http://purl.bioontology.org/ontology/OMIM/MTHU009253

http://purl.bioontology.org/ontology/OMIM/MTHU009247

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000602

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU000559

http://purl.bioontology.org/ontology/OMIM/MTHU009250

http://purl.bioontology.org/ontology/OMIM/MTHU000821

http://purl.bioontology.org/ontology/OMIM/MTHU009251
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

271700
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPONDYLOPERIPHERAL DYSPLASIA
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C535799 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0112195 Human Disease Ontology 123 LOOM