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:
Hypoplastic anemia (HP:0001908)

..Starting node
..Congenital hypoplastic anemia (HP:0004810)

Term ID:

4810

Name:

Congenital hypoplastic anemia

Synonym:

Congenital dyserythropoietic anaemia; Congenital dyserythropoietic anemia; Congenital hypoplastic anaemia

Definition:

A type of hypoplastic anemia with congenital onset.

Comments:

Reference:

HP:0004810

Genes and Diseases:

Child Nodes:

Sister Nodes:

Normocytic hypoplastic anemia (HP:0004819)

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:0004810	HP:0004810	Congenital hypoplastic anemia	0	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III	.	1
HP:0004810	HP:0004810	Congenital hypoplastic anemia	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent	186
HP:0004810	HP:0004810	Congenital hypoplastic anemia	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0004810	HP:0004810	Congenital hypoplastic anemia	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0004810	HP:0004810	Congenital hypoplastic anemia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (5) :KIF23 LPIN2 RMRP RPS19 ZNF699

Diseases (5) :OMIM:105600 ORPHA:77297 OMIM:250250 OMIM:105650 OMIM:619488

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