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:
Abnormal number of erythroid precursors (HP:0012131)

Parent Node:
Erythroid hyperplasia (HP:0012132)

..Starting node
..Megaloblastic erythroid hyperplasia (HP:0200143)

Term ID:

200143

Name:

Megaloblastic erythroid hyperplasia

Synonym:

Bone marrow biopsy shows megaloblastic erythroid hyperplasia

Definition:

Comments:

Reference:

HP:0200143

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0200143	HP:0200143	Megaloblastic erythroid hyperplasia	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0200143	HP:0200143	Megaloblastic erythroid hyperplasia	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent	19
HP:0200143	HP:0200143	Megaloblastic erythroid hyperplasia	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent	3

Genes (3) :CBLIF SF3B1 TET2

Diseases (2) :OMIM:261000 ORPHA:75564

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