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:
Abnormal renal morphology (HP:0012210)

Parent Node:
Abnormal renal calyx morphology (HP:0011130)

..Starting node
..Dilatation of renal calices (HP:0100581)

Term ID:

100581

Name:

Dilatation of renal calices

Synonym:

Caliceal dilatation; Caliectasis; Megacalicosis

Definition:

An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.

Comments:

Reference:

HP:0100581

Genes and Diseases:

Child Nodes:

Sister Nodes:

Polycalycosis (HP:0025360)

Polygonal renal calices (HP:0025359)

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:0100581	HP:0100581	Dilatation of renal calices	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0100581	HP:0100581	Dilatation of renal calices	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0100581	HP:0100581	Dilatation of renal calices	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20

Genes (3) :KMT2A POLR3A WAC

Diseases (3) :ORPHA:319182 ORPHA:3455 ORPHA:466950

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