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 T cell physiology (HP:0011840)

Parent Node:
Abnormal delayed hypersensitivity skin test (HP:0002963)

..Starting node
..Cutaneous anergy (HP:0002965)

Term ID:

2965

Name:

Cutaneous anergy

Synonym:

Absence of delayed hypersensitivity skin test; Lack of delayed skin hypersensitivity reaction

Definition:

Inability to react to a delayed hypersensitivity skin test.

Comments:

Reference:

HP:0002965

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced delayed hypersensitivity (HP:0002972)

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:0002965	HP:0002965	Cutaneous anergy	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002965	HP:0002965	Cutaneous anergy	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0002965	HP:0002965	Cutaneous anergy	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type	.	140
HP:0002965	HP:0002965	Cutaneous anergy	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002965	HP:0002965	Cutaneous anergy	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002965	HP:0002965	Cutaneous anergy	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34

Genes (6) :CIITA EPG5 JAK3 RFX5 RFXANK RFXAP

Diseases (3) :OMIM:209920 OMIM:242840 OMIM:600802

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