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:
Anemia of inadequate production (HP:0010972)

Parent Node:
Macrocytic anemia (HP:0001972)

..Starting node
..Refractory macrocytic anemia (HP:0004861)

Term ID:

4861

Name:

Refractory macrocytic anemia

Synonym:

Refractory macrocytic anaemia

Definition:

Comments:

Reference:

HP:0004861

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperchromic macrocytic anemia (HP:0004857)

Macrocytic dyserythropoietic anemia (HP:0005532)

Megaloblastic anemia (HP:0001889)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004861	HP:0004861	Refractory macrocytic anemia	0	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome

Genes (1) :RPS14

Diseases (1) :OMIM:153550

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