Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Macrocytic anemia (HP:0001972)

Parent Node:
Megaloblastic anemia (HP:0001889)

..Starting node
..Folate-unresponsive megaloblastic anemia (HP:0004826)

Term ID:

4826

Name:

Folate-unresponsive megaloblastic anemia

Synonym:

Folate-unresponsive megaloblastic anaemia

Definition:

A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.

Comments:

Reference:

HP:0004826

Genes and Diseases:

Child Nodes:

Sister Nodes:

Folate-responsive megaloblastic anemia (HP:0004851)

Pyrimidine-responsive megaloblastic anemia (HP:0003339)

Thiamine-responsive megaloblastic anemia (HP:0004860)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004826	HP:0004826	Folate-unresponsive megaloblastic anemia	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.	135

Genes (1) :UMPS

Diseases (1) :OMIM:258900

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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