Arthrogryposis, distal, type 2e

Preferred Label : Arthrogryposis, distal, type 2e;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Contractures of fingers and jaw;

Inheritance : Autosomal dominant;

Prefixed ID : 121070;

Details

Origin ID

121070;

UMLS CUI

C1852597;

Currated CISMeF NLP mapping
- Arthrogryposis, distal, type 2E [MeSH concept]
- arthrogryposis, distal, type 2E [MeSH Supplementary Concept]
DO Cross reference
- distal arthrogryposis [DO Concept]
HPO term(s)
- Absent antihelix [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Distal arthrogryposis [HPO term]
- Joint contracture of the hand [HPO term]
- Joint contractures involving the joints of the feet [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Mild microcephaly [HPO term]
- Narrow mouth [HPO term]
- Severe flexion contractures of hands and feet [HPO term]
- Talipes equinovarus [HPO term]
- Trismus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis, distal, type 2E [MeSH concept]
- arthrogryposis, distal, type 2E [MeSH Supplementary Concept]

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