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 the abdominal organs (HP:0002012)

Parent Node:
Abnormality of the peritoneum (HP:0002585)

..Starting node
..Retroperitoneal fibrosis (HP:0005200)

Term ID:

5200

Name:

Retroperitoneal fibrosis

Synonym:

Definition:

Comments:

Reference:

HP:0005200

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hemoperitoneum (HP:0011854)

Peritoneal abscess (HP:0100592)

Peritoneal effusion (HP:0030995)

Peritoneal mesothelioma (HP:0100003)

Peritonitis (HP:0002586)

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:0005200	HP:0005200	Retroperitoneal fibrosis	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome	HP:0040284 - Very rare	68

Genes (1) :SLC29A3

Diseases (1) :OMIM:602782

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