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 ureter (HP:0000069)

Parent Node:
Ureteral duplication (HP:0000073)

..Starting node
..Bifid ureter (HP:0030037)

Term ID:

30037

Name:

Bifid ureter

Synonym:

Definition:

Incomplete duplication of the ureter.

Comments:

Reference:

HP:0030037

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ureter duplex (HP:0012572)

Ureter fissus (HP:0012571)

Ureteral triplication (HP:0008705)

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:0030037	HP:0030037	Bifid ureter	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0030037	HP:0030037	Bifid ureter	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0030037	HP:0030037	Bifid ureter	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0030037	HP:0030037	Bifid ureter	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0030037	HP:0030037	Bifid ureter	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0030037	HP:0030037	Bifid ureter	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.	3
HP:0030037	HP:0030037	Bifid ureter	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20

Genes (5) :COL18A1 FIBP PAK2 PBX1 PORCN

Diseases (6) :ORPHA:1571 OMIM:267750 ORPHA:500095 OMIM:617107 OMIM:617641 OMIM:305600

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