Thanatophoric dysplasia, glasgow variant

Preferred Label : Thanatophoric dysplasia, glasgow variant;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Neonatally lethal short-limb skeletal dysplasia, glasgow type;

Inheritance : Autosomal recessive;

Prefixed ID : 273680;

Details

Origin ID

273680;

UMLS CUI

C1848865;

Currated CISMeF NLP mapping
- Thanatophoric dysplasia Glasgow variant [MeSH concept]
- Thanatophoric dysplasia, Glasgow variant [ORDO Disease]
- thanatophoric dysplasia glasgow variant [MeSH Supplementary Concept]
DO Cross reference
- thanatophoric dysplasia [DO Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Hepatosplenomegaly [HPO term]
- Micromelia [HPO term]
- Neonatal death [HPO term]
ORDO concept(s)
- Thanatophoric dysplasia, Glasgow variant [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thanatophoric dysplasia Glasgow variant [MeSH concept]
- Thanatophoric dysplasia, Glasgow variant [ORDO Disease]
- thanatophoric dysplasia glasgow variant [MeSH Supplementary Concept]

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