SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

SEMDAG

http://purl.bioontology.org/ontology/OMIM/612813

SEMDAG

SEMD, AGGRECAN TYPE

C2748544

15q26.1

SSOAOD

AGC1

MSK16

ACAN

SEDK

CSPG1

http://purl.bioontology.org/ontology/OMIM/MTHU058804

http://purl.bioontology.org/ontology/OMIM/MTHU025276

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

http://purl.bioontology.org/ontology/OMIM/MTHU008519

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

http://purl.bioontology.org/ontology/OMIM/MTHU005513

http://purl.bioontology.org/ontology/OMIM/MTHU037152

http://purl.bioontology.org/ontology/OMIM/MTHU002157

http://purl.bioontology.org/ontology/OMIM/MTHU000073

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU058805

http://purl.bioontology.org/ontology/OMIM/MTHU058807

http://purl.bioontology.org/ontology/OMIM/MTHU013384

http://purl.bioontology.org/ontology/OMIM/MTHU058803

http://purl.bioontology.org/ontology/OMIM/MTHU058809

http://purl.bioontology.org/ontology/OMIM/MTHU016668

http://purl.bioontology.org/ontology/OMIM/MTHU003450

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

http://purl.bioontology.org/ontology/OMIM/MTHU009332

http://purl.bioontology.org/ontology/OMIM/MTHU001731

http://purl.bioontology.org/ontology/OMIM/MTHU058808

http://purl.bioontology.org/ontology/OMIM/MTHU058802

http://purl.bioontology.org/ontology/OMIM/MTHU058806

http://purl.bioontology.org/ontology/OMIM/MTHU036364

Phenotype description, molecular basis known.

612813

3

pound

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

One family from Zacatecas, Mexico has been described (last curated August 2017) [MISCELLANEOUS]

Caused by mutation in the aggrecan gene (ACAN, 155760.0002) [MOLECULAR BASIS]

T047