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

Human Phenotype Ontology

Grandparent Node:
Abnormality of metabolism/homeostasis (HP:0001939)

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Parent Node:
Abnormal cellular physiology (HP:0011017)

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..Starting node
..Abnormality of the cell cycle (HP:0011018)

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Term ID:

11018

Name:

Abnormality of the cell cycle

Synonym:

Abnormality of the cell cycle

Definition:

An abnormality of the cell cycle.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Prolonged G2 phase of cell cycle (HP:0003214)

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Sister Nodes:

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Abnormality of B cell physiology (HP:0005372)

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Abnormality of chromosome condensation (HP:0011019)

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Abnormality of chromosome segregation (HP:0002916)

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Abnormality of chromosome stability (HP:0003220)

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Abnormality of DNA repair (HP:0003254)

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Abnormality of lysosomal metabolism (HP:0004356)

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Abnormality of T cell physiology (HP:0011840)

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Abnormality of the mitochondrion (HP:0012103)

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Increased cellular sensitivity to UV light (HP:0003224)

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Increased sensitivity to ionizing radiation (HP:0011133)

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

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011018	HP:0011018	Abnormality of the cell cycle	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia				340
HP:0011018	HP:0011018	Abnormality of the cell cycle	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C				410
HP:0011018	HP:0011018	Abnormality of the cell cycle	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2				147
HP:0011018	HP:0011018	Abnormality of the cell cycle	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E				73
HP:0011018	HP:0003214	Prolonged G2 phase of cell cycle	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.			340
HP:0011018	HP:0003214	Prolonged G2 phase of cell cycle	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.			410
HP:0011018	HP:0003214	Prolonged G2 phase of cell cycle	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.			147
HP:0011018	HP:0003214	Prolonged G2 phase of cell cycle	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.			73

Genes (4) :FANCA FANCC FANCD2 FANCE

Diseases (4) :OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901

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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