Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
Synonyms

SEDC

SED CONGENITA

SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
ID

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

SEDC

SED CONGENITA

SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
cui

C2745959
Gene Locus

12q13.11-q13.2
Gene Symbol

COL2A1
Has manifestation

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU071448

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

http://purl.bioontology.org/ontology/OMIM/MTHU071446

http://purl.bioontology.org/ontology/OMIM/MTHU030309

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

http://purl.bioontology.org/ontology/OMIM/MTHU000191

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

http://purl.bioontology.org/ontology/OMIM/MTHU045545

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU002712

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU036353

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

http://purl.bioontology.org/ontology/OMIM/MTHU071444

http://purl.bioontology.org/ontology/OMIM/MTHU071450

http://purl.bioontology.org/ontology/OMIM/MTHU071447

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU071445

http://purl.bioontology.org/ontology/OMIM/MTHU071449
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

183900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
Scope Statement

Waddling gait [MISCELLANEOUS]

Gonadal mosaicism reported [MISCELLANEOUS]

Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0001) [MOLECULAR BASIS]
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10062920 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10074799 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10074799 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/278713008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A21 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10062920 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.7 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10/Q77.7 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10074799 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/Xa0pG RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/278713008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C535788 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10062920 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/XE1MB RCD CUI
http://purl.obolibrary.org/obo/DOID_14789 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14789 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14789 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14789 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14789 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14789 FNS-H LOOM
http://www.orpha.net/ORDO/Orphanet_94068 ORDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10074799 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A21 SNMI LOOM
rgo:12521 GAMUTS LOOM
http://purl.bioontology.org/ontology/RCTV2/PG46000 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535788 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12548 HRDO LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Spondyloepiphyseal_dysplasia,_congenita RPO LOOM
http://purl.obolibrary.org/obo/MONDO_0008471 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008471 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008471 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008471 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008471 DOVES LOOM
http://nanbyodata.jp/ontology/NANDO_2201348 NANDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/278713008 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/C535788 MESH LOOM
http://purl.bioontology.org/ontology/RCD/XE1MB RCD LOOM