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 immune system physiology (HP:0010978)

Parent Node:
Abnormal lymphocyte physiology (HP:0031409)

..Starting node
..Abnormal lymphocyte apoptosis (HP:0030886)

Term ID:

30886

Name:

Abnormal lymphocyte apoptosis

Synonym:

Definition:

A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.

Comments:

Reference:

HP:0030886

Genes and Diseases:

Child Nodes:

........

Decreased lymphocyte apoptosis (HP:0002731)

........

Increased lymphocyte apoptosis (HP:0030887)

Sister Nodes:

Abnormal lymphocyte proliferation (HP:0031378)

Abnormal natural killer cell physiology (HP:0012177)

Abnormality of T cell physiology (HP:0011840)

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:0030886	HP:0030886	Abnormal lymphocyte apoptosis	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0030886	HP:0030886	Abnormal lymphocyte apoptosis	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0030886	HP:0030886	Abnormal lymphocyte apoptosis	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0030886	HP:0030886	Abnormal lymphocyte apoptosis	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0030886	HP:0030886	Abnormal lymphocyte apoptosis	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0030886	HP:0030886	Abnormal lymphocyte apoptosis	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0030886	HP:0030887	Increased lymphocyte apoptosis	1	CL E G H
HP:0030886	HP:0002731	Decreased lymphocyte apoptosis	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0030886	HP:0002731	Decreased lymphocyte apoptosis	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0030886	HP:0002731	Decreased lymphocyte apoptosis	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0030886	HP:0002731	Decreased lymphocyte apoptosis	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0030886	HP:0002731	Decreased lymphocyte apoptosis	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0030886	HP:0002731	Decreased lymphocyte apoptosis	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0030886	HP:0033278	Reduced CD95-induced lymphocyte apoptosis	2	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37

Genes (6) :CASP10 CASP8 FAS FASLG KRAS NRAS

Diseases (4) :OMIM:603909 OMIM:607271 OMIM:601859 OMIM:614470

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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