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-responsive megaloblastic anemia (HP:0004851)

Term ID:

4851

Name:

Folate-responsive megaloblastic anemia

Synonym:

Folate-responsive megaloblastic anaemia

Definition:

A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.

Comments:

Reference:

HP:0004851

Genes and Diseases:

Child Nodes:

Sister Nodes:

Folate-unresponsive megaloblastic anemia (HP:0004826)

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:0004851	HP:0004851	Folate-responsive megaloblastic anemia	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0004851	HP:0004851	Folate-responsive megaloblastic anemia	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101

Genes (2) :SLC19A1 SLC46A1

Diseases (2) :OMIM:601775 OMIM:229050

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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