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 cellular physiology (HP:0011017)

Parent Node:
Abnormality of chromosome segregation (HP:0002916)

..Starting node
..Endopolyploidy on chromosome studies of bone marrow (HP:0003352)

Term ID:

3352

Name:

Endopolyploidy on chromosome studies of bone marrow

Synonym:

Definition:

An increase in the number of chromosome sets per cell in bone marrow cells.

Comments:

Reference:

HP:0003352

Genes and Diseases:

Child Nodes:

Sister Nodes:

Premature chromatid separation (HP:0200024)

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:0003352	HP:0003352	Endopolyploidy on chromosome studies of bone marrow	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.	86
HP:0003352	HP:0003352	Endopolyploidy on chromosome studies of bone marrow	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.	60

Genes (2) :CDAN1 SEC23B

Diseases (2) :OMIM:224120 OMIM:224100

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