SPONDYLOPERIPHERAL DYSPLASIA

SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA

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

SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA

C0796173

12q13.11-q13.2

COL2A1

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/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

Phenotype description, molecular basis known.

271700

3

pound

SPONDYLOPERIPHERAL DYSPLASIA

Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0030) [MOLECULAR BASIS]

T047