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:
Hepatitis (HP:0012115)

Parent Node:
Chronic hepatitis (HP:0200123)

..Starting node
..Chronic hepatitis due to cryptosporidium infection (HP:0200124)

Term ID:

200124

Name:

Chronic hepatitis due to cryptosporidium infection

Synonym:

Hepatitis, chronic, due to cryptosporidium infection

Definition:

Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.

Comments:

Reference:

HP:0200124

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic active hepatitis (HP:0200120)

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:0200124	HP:0200124	Chronic hepatitis due to cryptosporidium infection	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0200124	HP:0200124	Chronic hepatitis due to cryptosporidium infection	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0200124	HP:0200124	Chronic hepatitis due to cryptosporidium infection	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0200124	HP:0200124	Chronic hepatitis due to cryptosporidium infection	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0200124	HP:0200124	Chronic hepatitis due to cryptosporidium infection	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34

Genes (5) :CIITA IL21R RFX5 RFXANK RFXAP

Diseases (2) :ORPHA:572 OMIM:615207

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