Ethanolaminosis

Preferred Label : Ethanolaminosis;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Ethanolamine kinase deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : %227150;

Details

Origin ID

227150;

UMLS CUI

C0268423;

Currated CISMeF NLP mapping
- Ethanolaminosis (disorder) [SNOMED CT concept]
- ethanolaminosis [SNOMED Notion]
- ethanolaminosis [MeSH concept]
- ethanolaminosis [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Death in infancy [HPO term]
- Generalized hypotonia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ethanolaminosis (disorder) [SNOMED CT concept]
- ethanolaminosis [MeSH Supplementary Concept]
- ethanolaminosis [SNOMED Notion]
- ethanolaminosis [MeSH concept]

Keyword's position in hierarchy(ies) :

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