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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/MTHU071446

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

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

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

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

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

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

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

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

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/MTHU071448

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

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/MTHU036353

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

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

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

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

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

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

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/MTHU002712

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

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

Phenotype description, molecular basis known.
notation

183900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
Scope Statement

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

Waddling gait [MISCELLANEOUS]

Gonadal mosaicism reported [MISCELLANEOUS]
tui

T019
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