platyspondylic lethal skeletal dysplasia, Torrance type
although generally lethal, survival to adulthood has been reported in two families
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platyspondylic lethal skeletal dysplasia, Torrance type
Summary
platyspondylic lethal skeletal dysplasia, Torrance type is a hereditary disorder[1].
Key Facts
- platyspondylic lethal skeletal dysplasia, Torrance type's instance of is recorded as hereditary disorder[2].
- platyspondylic lethal skeletal dysplasia, Torrance type's instance of is recorded as developmental defect during embryogenesis[3].
- platyspondylic lethal skeletal dysplasia, Torrance type's instance of is recorded as rare disease[4].
- platyspondylic lethal skeletal dysplasia, Torrance type's instance of is recorded as class of disease[5].
- platyspondylic lethal skeletal dysplasia, Torrance type is a type of thanatophoric dysplasia[6].
- platyspondylic lethal skeletal dysplasia, Torrance type is a type of Spondylodysplastic dysplasia[7].
- platyspondylic lethal skeletal dysplasia, Torrance type is a type of type 2 collagen-related bone disorder[8].
- platyspondylic lethal skeletal dysplasia, Torrance type is a type of osteochondrodysplasia[9].
- platyspondylic lethal skeletal dysplasia, Torrance type's genetic association is recorded as COL2A1[10].
- platyspondylic lethal skeletal dysplasia, Torrance type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_85166[11].
- platyspondylic lethal skeletal dysplasia, Torrance type's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111508[12].
- platyspondylic lethal skeletal dysplasia, Torrance type's exact match is recorded as http://identifiers.org/doid/DOID:0111508[13].