Arthrogryposis, distal, type 2b3

Preferred Label : Arthrogryposis, distal, type 2b3;

Symbol : DA2B3;

CISMeF acronym : DA2B3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the embryonic skeletal muscle myosin heavy chain-3 gene (MYH3, 160720.0005);

Prefixed ID : #618436;

Details

Origin ID

618436;

UMLS CUI

C5193098;

Currated CISMeF NLP mapping
- distal arthrogryposis type 2B3 [DO Concept]
DO Cross reference
- distal arthrogryposis type 2B3 [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 3, skeletal muscle, embryonic [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Camptodactyly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Hallux valgus [HPO term]
- Overlapping fingers [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
- Triangular face [HPO term]
ORDO concept(s)
- Distal arthrogryposis [ORDO Disease]
- Freeman-Sheldon syndrome [ORDO Disease]
See also inter- (CISMeF)
- Freeman-Sheldon syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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