Arthrogryposis, distal, type 2b2

Preferred Label : Arthrogryposis, distal, type 2b2;

Symbol : DA2B2;

CISMeF acronym : DA2B2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the troponin-T3, skeletal, fast gene (TNNT3, 600692.0001);

Prefixed ID : #618435;

Details

Origin ID

618435;

UMLS CUI

C5193097;

Currated CISMeF NLP mapping
- distal arthrogryposis type 2B2 [DO Concept]
DO Cross reference
- distal arthrogryposis type 2B2 [DO Concept]
Genes related to phenotype
- Troponin t3, fast skeletal [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad hallux [HPO term]
- Camptodactyly [HPO term]
- Clinodactyly [HPO term]
- Hip dislocation [HPO term]
- Metatarsus adductus [HPO term]
- Narrow mouth [HPO term]
- Overlapping fingers [HPO term]
- Sandal gap [HPO term]
- Short toe [HPO term]
- Talipes equinovalgus [HPO term]
- Talipes equinovarus [HPO term]
- Tapered finger [HPO term]
- Triangular face [HPO term]
- Ulnar deviation of the wrist [HPO term]
ORDO concept(s)
- Distal arthrogryposis [ORDO Disease]
- Distal arthrogryposis type 1 [ORDO Disease]
- Sheldon-Hall syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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