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:
Recurrent infections (HP:0002719)

Parent Node:
Recurrent protozoan infections (HP:0005386)

..Starting node
..Tegumentary leishmaniasis susceptibility (HP:0007408)

Term ID:

7408

Name:

Tegumentary leishmaniasis susceptibility

Synonym:

Definition:

Increased susceptibility to infection by the protozan parasite of the genus Leishmania.

Comments:

Reference:

HP:0007408

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007408	HP:0007408	Tegumentary leishmaniasis susceptibility	0	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	HP:0040283 - Occasional	46

Genes (1) :IL12RB1

Diseases (1) :ORPHA:319552

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