| Metadata | |
|---|---|
| ID | DOID:0070742 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070742 Copy |
| Name | combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| Definition | A vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mildly impaired intellectual development, lymphopenia involving all subsets, and low T-cell receptor excision circles that has_material_basis_in compound heterozygous mutation in the MTHFD1 gene on chromosome 14q23. https://pubmed.ncbi.nlm.nih.gov/27707659/, https://pubmed.ncbi.nlm.nih.gov/32414565/ |
| Xrefs | |
| SKOS |
exactMatch MIM:617780 exactMatch UMLS_CUI:C4540434 exactMatch GARD:0026001 exactMatch ORDO:658813 broadMatch ICD10CM:E88.8 |
| Subsets |
DO_rare_slim |
| Synonyms |
CIMAH [EXACT] methylenetetrahydrofolate dehydrogenase 1 deficiency [EXACT] MTHFD1 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has feature some combined immunodeficiency has material basis in some autosomal recessive inheritance disease has feature some megaloblastic anemia |