Search Ontology:
Human Disease

immunodeficiency, developmental delay, and hypohomocysteinemia

Term ID
DOID:0070747
Synonyms
  • IMDDHH
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. https://pubmed.ncbi.nlm.nih.gov/29018201/
References
  • ICD10CM:E72.8
  • MIM:617744
  • ORDO:619979
  • SNOMEDCT_US_2026_03_01:1340174002
  • UMLS_CUI:C4540293
  • UMLS_CUI:C5681830
Ontology
Human Disease   ( DOID:0070747 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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