Arthrogryposis multiplex congenita 2, neurogenic type

Preferred Label : Arthrogryposis multiplex congenita 2, neurogenic type;

Symbol : AMC2;

CISMeF acronym : AMCN; AMC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amc, neurogenic type; Arthrogryposis multiplex congenita, neurogenic type; AMCN;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the endoplasmic reticulum-Golgi intermediate compartment protein 1 gene (ERGIC1, 617946.0001);

Prefixed ID : #208100;

Details

Origin ID

208100;

UMLS CUI

C5435650;

Currated CISMeF NLP mapping
- neurogenic-type arthrogryposis multiplex congenita-2 [DO Concept]
DO Cross reference
- neurogenic-type arthrogryposis multiplex congenita-2 [DO Concept]
Genes related to phenotype
- Endoplasmic reticulum-golgi intermediate compartment protein 1 [OMIM gene]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital contracture [HPO term]
- Congenital onset [HPO term]
- Myopathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Neurogenic arthrogryposis multiplex congenita [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis multiplex congenita neurogenic type [MeSH concept]
- Neurogenic arthrogryposis multiplex congenita [ORDO Disease]
- Neurogenic arthrogryposis multiplex congenita (disorder) [SNOMED CT concept]
- arthrogryposis multiplex congenita neurogenic type [MeSH Supplementary Concept]
- neurogenic-type arthrogryposis multiplex congenita-2 [DO Concept]
Validated automatic mappings to NTBT
- Arthrogryposis multiplex congenita neurogenic type [MeSH concept]
- Neurogenic arthrogryposis multiplex congenita [ORDO Disease]
- Neurogenic arthrogryposis multiplex congenita (disorder) [SNOMED CT concept]
- arthrogryposis multiplex congenita neurogenic type [MeSH Supplementary Concept]

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