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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal cellular physiology (HP:0011017)

..Starting node
..Abnormality of chromosome condensation (HP:0011019)

Term ID:

11019

Name:

Abnormality of chromosome condensation

Synonym:

Definition:

An abnormality of chromosome condensation.

Comments:

Reference:

HP:0011019

Genes and Diseases:

Child Nodes:

........

Increased rate of premature chromosome condensation (HP:0003451)

Sister Nodes:

Abnormality of B cell physiology (HP:0005372)

Abnormality of chromosome segregation (HP:0002916)

Abnormality of chromosome stability (HP:0003220)

Abnormality of DNA repair (HP:0003254)

Abnormality of lysosomal metabolism (HP:0004356)

Abnormality of T cell physiology (HP:0011840)

Abnormality of the cell cycle (HP:0011018)

Abnormality of the mitochondrion (HP:0012103)

Increased cellular sensitivity to UV light (HP:0003224)

Increased sensitivity to ionizing radiation (HP:0011133)

Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)

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:0011019	HP:0011019	Abnormality of chromosome condensation	0	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1		155
HP:0011019	HP:0003451	Increased rate of premature chromosome condensation	1	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1	.	155

Genes (1) :MCPH1

Diseases (1) :OMIM:251200

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