Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis

Preferred Label : Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome c oxidase, subunit IV, isoform 2 gene (COX4I2, 607976.0001);

Prefixed ID : #612714;

Details

Origin ID

612714;

UMLS CUI

C2675184;

Automatic exact mappings (from CISMeF team)
- Pancreatic insufficiency - anaemia - hyperostosis [ICD-11 More detail]
- exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [MeSH concept]
Currated CISMeF NLP mapping
- Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) [SNOMED CT concept]
- Pancreatic insufficiency-anemia-hyperostosis syndrome [ORDO Disease]
- exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [MeSH Supplementary Concept]
Genes related to phenotype
- Cytochrome C oxidase, subunit 4i2 [OMIM gene]
HPO term(s)
- Allergic rhinitis [HPO term]
- Anemia [HPO term]
- Anemia of inadequate production [HPO term]
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calvarial hyperostosis [HPO term]
- Carious teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Malnutrition [HPO term]
- Osteopenia [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
- Steatorrhea [HPO term]
ORDO concept(s)
- Pancreatic insufficiency-anemia-hyperostosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) [SNOMED CT concept]
- Pancreatic insufficiency-anemia-hyperostosis syndrome [ORDO Disease]
- exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [MeSH Supplementary Concept]
- exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients