Arthrogryposis, distal, type 1b

Preferred Label : Arthrogryposis, distal, type 1b;

Symbol : DA1B;

CISMeF acronym : DA1B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the slow-type myosin-binding protein C gene (MYBPC1, 160794.0001);

Prefixed ID : #614335;

Details

Origin ID

614335;

UMLS CUI

C3280526;

Automatic exact mappings (from CISMeF team)
- distal arthrogryposis type 1B [DO Concept]
DO Cross reference
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 1B [DO Concept]
Genes related to phenotype
- Myosin-binding protein C, slow type [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Camptodactyly [HPO term]
- Contractures involving the joints of the feet [HPO term]
- Distal arthrogryposis [HPO term]
- Joint contracture of the hand [HPO term]
- Rocker bottom foot [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Distal arthrogryposis type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- distal arthrogryposis type 1B [DO Concept]
Validated automatic mappings to NTBT
- Arthrogryposis multiplex congenita, distal type 1 [MeSH concept]
- Digitotalar dysmorphism [ICD-11 More detail]
- Distal arthrogryposis type 1 [ORDO Disease]
- arthrogryposis multiplex congenita, distal type 1 [MeSH Supplementary Concept]
- digitotalar dysmorphism [MeSH concept]
- digitotalar dysmorphism [MeSH Supplementary Concept]

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