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:
Dilatation of the renal pelvis (HP:0010946)

Grandparent Node:
Fetal ultrasound soft marker (HP:0011425)

Parent Node:
Fetal pyelectasis (HP:0010945)

..Starting node
..Bilateral fetal pyelectasis (HP:0011129)

Term ID:

11129

Name:

Bilateral fetal pyelectasis

Synonym:

Bilateral fetal pyelectasia; Bilateral foetal pyelectasia; Bilateral foetal pyelectasis

Definition:

A bilateral form of fetal pyelectasis.

Comments:

Reference:

HP:0011129

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0011129	HP:0011129	Bilateral fetal pyelectasis	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	46

Genes (1) :PIGA

Diseases (1) :OMIM:300868

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