Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE
Synonyms

PLSDT
ID

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

PLSDT

THANATOPHORIC DYSPLASIA, LUTON VARIANT

THANATOPHORIC DYSPLASIA, TORRANCE VARIANT

PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE

PLSDL

LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, TORRANCE TYPE
cui

C1835437
Gene Locus

12q13.11-q13.2
Gene Symbol

COL2A1
Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU017444

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/MTHU027187

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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

151210
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C563627 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C563627 Medical Subject Headings LOOM