Platyspondylic lethal skeletal dysplasia, torrance type

Preferred Label : Platyspondylic lethal skeletal dysplasia, torrance type;

Symbol : PLSDT;

CISMeF acronym : PLSDL; PLSDT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lethal short-limbed platyspondylic dwarfism, torrance type; Thanatophoric dysplasia, torrance variant;

Included titles and symbols : Platyspondylic lethal skeletal dysplasia, luton type; Thanatophoric dysplasia, luton variant; PLSDL;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0039);

Prefixed ID : #151210;

Détails

Origin ID

151210;

UMLS CUI

C1835437;

Automatic exact mappings (from CISMeF team)
- Torrance type platyspondylic dysplasia [DO Concept]
Currated CISMeF NLP mapping
- Platyspondylic dysplasia, Torrance type [ICD-11 More detail]
- Platyspondylic dysplasia, Torrance type [ORDO Disease]
- platyspondylic lethal skeletal dysplasia, torrance type [MeSH concept]
- platyspondylic lethal skeletal dysplasia, torrance type [MeSH Supplementary Concept]
DO Cross reference
- Torrance type platyspondylic dysplasia [DO Concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Abnormality of the abdominal wall [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coarse facial features [HPO term]
- Decreased cranial base ossification [HPO term]
- Disc-like vertebral bodies [HPO term]
- Dwarfism [HPO term]
- Dwarfism, neonatal short-limbed [HPO term]
- Flat acetabular roof [HPO term]
- Hypoplastic ilia [HPO term]
- Hypoplastic ischia [HPO term]
- Hypoplastic pubic bone [HPO term]
- Lethal skeletal dysplasia [HPO term]
- Limb undergrowth [HPO term]
- Macrocephaly [HPO term]
- Metaphyseal cupping [HPO term]
- Narrow chest [HPO term]
- Neonatal short-limb short stature [HPO term]
- Protuberant abdomen [HPO term]
- Severe limb shortening [HPO term]
- Severe platyspondyly [HPO term]
- Short long bone [HPO term]
- Short neck [HPO term]
- Short ribs [HPO term]
- Short, thin ribs [HPO term]
- Thin ribs [HPO term]
- severe limb shortening [HPO term]
ORDO concept(s)
- Platyspondylic dysplasia, Torrance type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Platyspondylic dysplasia, Torrance type [ORDO Disease]
- Platyspondylic dysplasia, Torrance type [ICD-11 More detail]
- Torrance type platyspondylic dysplasia [DO Concept]
- platyspondylic lethal skeletal dysplasia, torrance type [MeSH Supplementary Concept]
- platyspondylic lethal skeletal dysplasia, torrance type [MeSH concept]

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