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 stability (HP:0003220)

..Starting node
..Increased susceptibility to spontaneous sister chromatid exchange (HP:0010998)

Term ID:

10998

Name:

Increased susceptibility to spontaneous sister chromatid exchange

Synonym:

Definition:

An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.

Comments:

Reference:

HP:0010998

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chromosome breakage (HP:0040012)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010998	HP:0010998	Increased susceptibility to spontaneous sister chromatid exchange	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2

Genes (1) :TOP3A

Diseases (1) :OMIM:618097

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