PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE

PLSDT

http://purl.bioontology.org/ontology/OMIM/151210

PLSDT

THANATOPHORIC DYSPLASIA, LUTON VARIANT

THANATOPHORIC DYSPLASIA, TORRANCE VARIANT

PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE

PLSDL

LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, TORRANCE TYPE

C1835437

12q13.11-q13.2

COL2A1

http://purl.bioontology.org/ontology/OMIM/MTHU003642

http://purl.bioontology.org/ontology/OMIM/MTHU017442

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU017434

http://purl.bioontology.org/ontology/OMIM/MTHU004119

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

http://purl.bioontology.org/ontology/OMIM/MTHU017440

http://purl.bioontology.org/ontology/OMIM/MTHU009452

http://purl.bioontology.org/ontology/OMIM/MTHU017438

http://purl.bioontology.org/ontology/OMIM/MTHU017441

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU017435

http://purl.bioontology.org/ontology/OMIM/MTHU003181

http://purl.bioontology.org/ontology/OMIM/MTHU017436

http://purl.bioontology.org/ontology/OMIM/MTHU001502

http://purl.bioontology.org/ontology/OMIM/MTHU009326

http://purl.bioontology.org/ontology/OMIM/MTHU010458

http://purl.bioontology.org/ontology/OMIM/MTHU001798

http://purl.bioontology.org/ontology/OMIM/MTHU017439

http://purl.bioontology.org/ontology/OMIM/MTHU017437

Phenotype description, molecular basis known.

151210

3

pound

PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE

Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0039) [MOLECULAR BASIS]

Luton and Torrance type differentiated based on histologic findings in cartilage [MISCELLANEOUS]

T047