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 natural killer cell morphology (HP:0012176)

Parent Node:
Abnormal natural killer cell count (HP:0040089)

..Starting node
..Abnormal natural killer subset distribution (HP:0500033)

Term ID:

500033

Name:

Abnormal natural killer subset distribution

Synonym:

Definition:

Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.

Comments:

Reference:

HP:0500033

Genes and Diseases:

Child Nodes:

........

Abnormal distribution of CD56 bright/dim natural killer cells (HP:0031410)

........

Absent natural killer cells (HP:0040219)

Sister Nodes:

Reduced natural killer cell count (HP:0040218)

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:0500033	HP:0500033	Abnormal natural killer subset distribution	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0500033	HP:0500033	Abnormal natural killer subset distribution	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0500033	HP:0500033	Abnormal natural killer subset distribution	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0500033	HP:0031410	Abnormal distribution of CD56 bright/dim natural killer cells	1	CL E G H
HP:0500033	HP:0040219	Absent natural killer cells	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0500033	HP:0040219	Absent natural killer cells	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0500033	HP:0040219	Absent natural killer cells	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140

Genes (2) :GINS1 JAK3

Diseases (3) :OMIM:617827 OMIM:600802 ORPHA:35078

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