Short-rib thoracic dysplasia 2 with or without polydactyly

Preferred Label : Short-rib thoracic dysplasia 2 with or without polydactyly;

Symbol : SRTD2;

CISMeF acronym : ATD2; SRTD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Asphyxiating thoracic dystrophy 2; ATD2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the intraflagellar transport 80 gene (IFT80, 611177.0001);

Prefixed ID : #611263;

Details

Origin ID

611263;

UMLS CUI

C1970005;

Broader ORDO disease(s)
- Jeune syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- asphyxiating thoracic dystrophy 2 [DO Concept]
- asphyxiating thoracic dystrophy 2 [MeSH concept]
- asphyxiating thoracic dystrophy 2 [MeSH Supplementary Concept]
DO Cross reference
- asphyxiating thoracic dystrophy 2 [DO Concept]
Genes related to phenotype
- Intraflagellar transport 80 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad palm [HPO term]
- Mesomelia [HPO term]
- Narrow chest [HPO term]
- Postaxial hand polydactyly [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short foot [HPO term]
- Short metacarpal [HPO term]
- Small feet [HPO term]
ORDO concept(s)
- Jeune syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- asphyxiating thoracic dystrophy 2 [MeSH Supplementary Concept]
- asphyxiating thoracic dystrophy 2 [MeSH concept]
- asphyxiating thoracic dystrophy 2 [DO Concept]

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