Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 (HP:0001903)

Parent Node:
Anemia of inadequate production (HP:0010972)

..Starting node
..Hypoplastic anemia (HP:0001908)

Term ID:

1908

Name:

Hypoplastic anemia

Synonym:

Hypoplastic anaemia

Definition:

Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.

Comments:

Reference:

HP:0001908

Genes and Diseases:

Child Nodes:

........

Congenital hypoplastic anemia (HP:0004810)

........

Normocytic hypoplastic anemia (HP:0004819)

Sister Nodes:

Hypochromic anemia (HP:0001931)

Macrocytic anemia (HP:0001972)

Microcytic anemia (HP:0001935)

Normochromic anemia (HP:0001895)

Normocytic anemia (HP:0001897)

Sideroblastic anemia (HP:0001924)

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:0001908	HP:0001908	Hypoplastic anemia	0	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III		1
HP:0001908	HP:0001908	Hypoplastic anemia	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome		186
HP:0001908	HP:0001908	Hypoplastic anemia	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0001908	HP:0001908	Hypoplastic anemia	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001908	HP:0001908	Hypoplastic anemia	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001908	HP:0001908	Hypoplastic anemia	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0001908	HP:0001908	Hypoplastic anemia	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent	4
HP:0001908	HP:0001908	Hypoplastic anemia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001908	HP:0004810	Congenital hypoplastic anemia	1	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III	.	1
HP:0001908	HP:0004810	Congenital hypoplastic anemia	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent	186
HP:0001908	HP:0004819	Normocytic hypoplastic anemia	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0001908	HP:0004810	Congenital hypoplastic anemia	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0001908	HP:0004810	Congenital hypoplastic anemia	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0001908	HP:0004810	Congenital hypoplastic anemia	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (7) :KIF23 LPIN2 MVK RMRP RPS19 SAMD9L ZNF699

Diseases (8) :OMIM:105600 ORPHA:77297 OMIM:610377 OMIM:250250 OMIM:105650 OMIM:159550 ORPHA:2585 OMIM:619488

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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