Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia	go back to main search page
Accession:	DOID:9009055	browse the term
Definition:	An inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. (OMIM)
Synonyms:	exact_synonym:	CIMAH; methylenetetrahydrofolate dehydrogenase 1 deficiency
	broad_synonym:	MTHFD1-RELATED CONDITION
	primary_id:	MIM:617780

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Genes (1)

Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mthfd1

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

ISO

ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

ClinVar
OMIM

PMID:11004530 PMID:15633187 PMID:16199547 PMID:16315005 PMID:16552426 More...

NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372

Term paths to the root

Path 1
Term	Annotations
disease	19100
Nutritional and Metabolic Diseases	8520
disease of metabolism	8520
inherited metabolic disorder	6605
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia	1
Path 2
Term	Annotations
disease	19100
disease of anatomical entity	18440
Hemic and Lymphatic Diseases	4332
hematopoietic system disease	3822
anemia	862
macrocytic anemia	29
megaloblastic anemia	22
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS