| Metadata | |
|---|---|
| ID | DOID:0070747 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070747 Copy |
| Name | immunodeficiency, developmental delay, and hypohomocysteinemia |
| 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/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1340174002 |
| SKOS |
exactMatch ORDO:619979 exactMatch MIM:617744 broadMatch ICD10CM:E72.8 |
| Subsets |
DO_rare_slim |
| Synonyms |
IMDDHH [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |