Details of Disease | DrugMAP

General Information of Disease (ID: DIS1NJHF)

Disease Name	Platyspondylic dysplasia, Torrance type
Synonyms	thanatophoric dysplasia, Luton variant; Platyspondylic lethal skeletal dysplasia Torrance type; thanatophoric dysplasia Torrance variant; Platyspondylic lethal skeletal dysplasia, Luton type; thanatophoric dysplasia, Torrance variant; lethal short-limbed Platyspondylic dwarfism Torrance type; PLSDT; lethal short-limbed Platyspondylic dwarfism, Torrance type; platyspondylic dysplasia, Torrance type; platyspondylic skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; PLSD-T; Platyspondylic lethal skeletal dysplasia, Torrance type
Disease Hierarchy	DISZ8ZFO: Spondylodysplastic dysplasia DIS8WIDY: Type 2 collagenopathy DIS1NJHF: Platyspondylic dysplasia, Torrance type
Disease Identifiers	MONDO ID MONDO_0007895 MESH ID C563627 UMLS CUI C1835437 OMIM ID 151210 MedGen ID 331974 Orphanet ID 85166

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL2A1	OT5E59C8	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.