Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 cellular physiology (HP:0011017)

Grandparent Node:
Abnormal lymphocyte physiology (HP:0031409)

Parent Node:
Abnormality of T cell physiology (HP:0011840)

..Starting node
..Abnormal delayed hypersensitivity skin test (HP:0002963)

Term ID:

2963

Name:

Abnormal delayed hypersensitivity skin test

Synonym:

Definition:

Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.

Comments:

Reference:

HP:0002963

Genes and Diseases:

Child Nodes:

........

Cutaneous anergy (HP:0002965)

........

Reduced delayed hypersensitivity (HP:0002972)

Sister Nodes:

Abnormal T cell activation (HP:0410035)

Abnormal T cell proliferation (HP:0031379)

Impaired T cell function (HP:0005435)

Lack of T cell function (HP:0005354)

obsolete Exaggerated cellular immune processes (HP:0005397)

Oligoclonal T cell expansion (HP:0031430)

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:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0002963	HP:0002963	Abnormal delayed hypersensitivity skin test	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002963	HP:0002972	Reduced delayed hypersensitivity	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0002963	HP:0002965	Cutaneous anergy	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002963	HP:0002965	Cutaneous anergy	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0002963	HP:0002972	Reduced delayed hypersensitivity	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0002963	HP:0002972	Reduced delayed hypersensitivity	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0002963	HP:0002965	Cutaneous anergy	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type	.	140
HP:0002963	HP:0002972	Reduced delayed hypersensitivity	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0002963	HP:0002972	Reduced delayed hypersensitivity	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0002963	HP:0002965	Cutaneous anergy	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002963	HP:0002965	Cutaneous anergy	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002963	HP:0002965	Cutaneous anergy	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34

Genes (12) :CASP10 CIITA EPG5 FAS FASLG JAK3 NSMCE3 RAB27A RFX5 RFXANK RFXAP WAS

Diseases (8) :OMIM:603909 OMIM:209920 OMIM:242840 OMIM:601859 OMIM:600802 OMIM:617241 OMIM:607624 OMIM:301000

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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