Moyamoya disease 6 with or without achalasia

Preferred Label : Moyamoya disease 6 with or without achalasia;

Symbol : MYMY6;

CISMeF acronym : MYMY6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the soluble guanylate cyclase 1, alpha 3 gene (GUCY1A3, 139396.0001);

Prefixed ID : #615750;

Details

Origin ID

615750;

UMLS CUI

C3810403;

Automatic exact mappings (from CISMeF team)
- GUCY1A1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Moyamoya disease with early onset achalasia (disorder) [SNOMED CT concept]
- Moyamoya disease with early-onset achalasia [ORDO Disease]
DO Cross reference
- Moyamoya disease [DO Concept]
Genes related to phenotype
- Guanylate cyclase, soluble, alpha-1 [OMIM gene]
HPO term(s)
- Achalasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cutis marmorata [HPO term]
- Dysphagia [HPO term]
- Hemiparesis [HPO term]
- Hypertension [HPO term]
- Impotence [HPO term]
- Ischemic stroke [HPO term]
- Raynaud phenomenon [HPO term]
- Seizure [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Moyamoya disease with early-onset achalasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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