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

..Starting node
..Reduced proportion of mucosal-associated invariant T cells (HP:4000039)

Term ID:

4000039

Name:

Reduced proportion of mucosal-associated invariant T cells

Synonym:

Definition:

A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.

Comments:

Reference:

HP:4000039

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:4000039	HP:4000039	Reduced proportion of mucosal-associated invariant T cells	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24	2

Genes (1) :CTPS1

Diseases (1) :OMIM:615897

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