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
..Reduced delayed hypersensitivity (HP:0002972)

Term ID:

2972

Name:

Reduced delayed hypersensitivity

Synonym:

Decreased reactivity to skin test antigens; Deficiency of delayed skin hypersensitivity; Impaired delayed hypersensitivity

Definition:

Decreased ability to react to a delayed hypersensitivity skin test.

Comments:

Reference:

HP:0002972

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cutaneous anergy (HP:0002965)

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:0002972	HP:0002972	Reduced delayed hypersensitivity	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0002972	HP:0002972	Reduced delayed hypersensitivity	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0002972	HP:0002972	Reduced delayed hypersensitivity	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0002972	HP:0002972	Reduced delayed hypersensitivity	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0002972	HP:0002972	Reduced delayed hypersensitivity	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67

Genes (5) :CASP10 FAS FASLG NSMCE3 RAB27A

Diseases (4) :OMIM:603909 OMIM:601859 OMIM:617241 OMIM:607624

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