Arthrogryposis, perthes disease, and upward gaze palsy

Preferred Label : Arthrogryposis, perthes disease, and upward gaze palsy;

Symbol : APUG;

CISMeF acronym : APUG;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Prefixed ID : #614262;

Details

Origin ID

614262;

UMLS CUI

C3280309;

Genes related to phenotype
- Nima-related kinase 9 [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Asthma [HPO term]
- Atopic dermatitis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Full cheeks [HPO term]
- Overlapping toe [HPO term]
- Pulmonic stenosis [HPO term]
- Pyloric stenosis [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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