Human Phenotype Ontology

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:
Abnormality of chromosome segregation (HP:0002916)

Parent Node:
Premature chromatid separation (HP:0200024)

..Starting node
..Premature separation of centromeric heterochromatin (HP:0003616)

Term ID:

3616

Name:

Premature separation of centromeric heterochromatin

Synonym:

Definition:

Comments:

Reference:

HP:0003616

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:0003616	HP:0003616	Premature separation of centromeric heterochromatin	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92

Genes (1) :ESCO2

Diseases (1) :OMIM:268300

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