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 immune system physiology (HP:0010978)

Parent Node:
Opportunistic infection (HP:0031690)

..Starting node
..Disseminated cryptosporidium infection (HP:0031699)

Term ID:

31699

Name:

Disseminated cryptosporidium infection

Synonym:

Definition:

Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.

Comments:

Reference:

HP:0031699

Genes and Diseases:

Child Nodes:

Sister Nodes:

Disseminated viral infection (HP:0031696)

Invasive parasitic infection (HP:0031700)

obsolete Disseminated Bacillus Calmette-Guerin infection (HP:0031698)

Recurrent opportunistic infections (HP:0005390)

Severe viral infection (HP:0031691)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031699	HP:0031699	Disseminated cryptosporidium infection	0	MBL2 CL E G H	4153	6922	OMIM:614372	Mannose-Binding lectin deficiency	54

Genes (1) :MBL2

Diseases (1) :OMIM:614372

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