Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
Synonyms

SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
ID

http://purl.bioontology.org/ontology/OMIM/183900
altLabel

SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE

SED CONGENITA

SEDC
cui

C2745959
Gene Locus

12q13.11-q13.2
Gene Symbol

COL2A1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU011163

http://purl.bioontology.org/ontology/OMIM/MTHU001649

http://purl.bioontology.org/ontology/OMIM/MTHU001355

http://purl.bioontology.org/ontology/OMIM/MTHU027468

http://purl.bioontology.org/ontology/OMIM/MTHU000585

http://purl.bioontology.org/ontology/OMIM/MTHU000921

http://purl.bioontology.org/ontology/OMIM/MTHU000607

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU015542

http://purl.bioontology.org/ontology/OMIM/MTHU010311

http://purl.bioontology.org/ontology/OMIM/MTHU000038

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU001153

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

http://purl.bioontology.org/ontology/OMIM/MTHU015540

http://purl.bioontology.org/ontology/OMIM/MTHU001150

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU003440

http://purl.bioontology.org/ontology/OMIM/MTHU000720

http://purl.bioontology.org/ontology/OMIM/MTHU013703

http://purl.bioontology.org/ontology/OMIM/MTHU002188

http://purl.bioontology.org/ontology/OMIM/MTHU027469

http://purl.bioontology.org/ontology/OMIM/MTHU009870

http://purl.bioontology.org/ontology/OMIM/MTHU002639

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU011563

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

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU015545

http://purl.bioontology.org/ontology/OMIM/MTHU015543

http://purl.bioontology.org/ontology/OMIM/MTHU015541
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

183900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q77.7 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10/Q77.7 International Classification of Diseases, Version 10 CUI
http://purl.obolibrary.org/obo/DOID_14789 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C535788 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C535788 Medical Subject Headings LOOM