Immunodeficiency 69

Preferred Label : Immunodeficiency 69;

Symbol : IMD69;

CISMeF acronym : IMD69;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ifng deficiency, autosomal recessive; Immunodeficiency 69, mycobacteriosis, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interferon gamma gene (IFNG, 147570.0005);

Laboratory abnormalities : Elevated liver enzymes;

Prefixed ID : #618963;

Détails

Origin ID

618963;

UMLS CUI

C5436498;

Currated CISMeF NLP mapping
- immunodeficiency 69 [DO Concept]
DO Cross reference
- immunodeficiency 69 [DO Concept]
Genes related to phenotype
- Interferon, gamma [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- BCGosis [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Fever [HPO term]
- Hepatosplenomegaly [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Leukocytosis [HPO term]
- Pancytopenia [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
- Thrombocytosis [HPO term]
Not associated HPO term(s)
- Hemophagocytosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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