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 collecting system morphology (HP:0004742)

..Starting node
..Duplicated collecting system (HP:0000081)

Term ID:

Name:

Duplicated collecting system

Synonym:

Double collecting system; Double urinary collecting systems on intravenous pyelography; Duplex collecting system; Duplicated renal collecting system

Definition:

A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.

Comments:

Reference:

HP:0000081

Genes and Diseases:

Child Nodes:

Sister Nodes:

Renal diverticulum (HP:0100877)

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:0000081	HP:0000081	Duplicated collecting system	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000081	HP:0000081	Duplicated collecting system	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000081	HP:0000081	Duplicated collecting system	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0000081	HP:0000081	Duplicated collecting system	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0000081	HP:0000081	Duplicated collecting system	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0000081	HP:0000081	Duplicated collecting system	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0000081	HP:0000081	Duplicated collecting system	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0000081	HP:0000081	Duplicated collecting system	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0000081	HP:0000081	Duplicated collecting system	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000081	HP:0000081	Duplicated collecting system	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0000081	HP:0000081	Duplicated collecting system	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0000081	HP:0000081	Duplicated collecting system	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0000081	HP:0000081	Duplicated collecting system	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0000081	HP:0000081	Duplicated collecting system	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0000081	HP:0000081	Duplicated collecting system	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000081	HP:0000081	Duplicated collecting system	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000081	HP:0000081	Duplicated collecting system	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional	46
HP:0000081	HP:0000081	Duplicated collecting system	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000081	HP:0000081	Duplicated collecting system	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000081	HP:0000081	Duplicated collecting system	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0000081	HP:0000081	Duplicated collecting system	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0000081	HP:0000081	Duplicated collecting system	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000081	HP:0000081	Duplicated collecting system	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0000081	HP:0000081	Duplicated collecting system	0	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8	.	134
HP:0000081	HP:0000081	Duplicated collecting system	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140

Genes (23) :COL18A1 DHCR7 FANCA FANCC FANCD2 FANCE IARS1 JAG1 KDM6A KMT2D LAMA3 LAMB3 LAMC2 MAPK1 OTUD5 PIGA PIGL POGZ PSMC1 SHOC2 TELO2 TNXB TP63

Diseases (22) :OMIM:267750 OMIM:270400 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 ORPHA:541423 OMIM:617093 OMIM:118450 ORPHA:2322 ORPHA:79404 OMIM:619087 OMIM:301056 OMIM:300868 OMIM:280000 OMIM:616364 ORPHA:468678 OMIM:620071 OMIM:607721 ORPHA:488642 OMIM:615963 OMIM:604292

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

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