immunodeficiency, developmental delay, and hypohomocysteinemia Disease Ontology Browser

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Disease Ontology Browser

immunodeficiency, developmental delay, and hypohomocysteinemia (DOID:0070747)
Alliance: disease page
Synonyms: IMDDHH
Alt IDs: OMIM:617744, ICD10CM:E72.8, ORDO:619979, UMLS_CUI:C4540293, UMLS_CUI:C5681830
Definition: An autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that has_material_basis_in heterozygous mutation in the NFE2L2 gene on chromosome 2q31.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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