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:
Decreased circulating antibody level (HP:0004313)

Parent Node:
Decreased circulating IgA level (HP:0002720)

..Starting node
..Partial IgA deficiency (HP:0011837)

Term ID:

11837

Name:

Partial IgA deficiency

Synonym:

Definition:

Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.

Comments:

Reference:

HP:0011837

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating total IgA (HP:0003460)

Secretory IgA deficiency (HP:0004433)

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:0011837	HP:0011837	Partial IgA deficiency	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140

Genes (1) :JAK3

Diseases (1) :ORPHA:35078

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