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 physiology (HP:0012211)

Parent Node:
Abnormal renal tubular resorption (HP:0011038)

..Starting node
..Impaired renal concentrating ability (HP:0004727)

Term ID:

4727

Name:

Impaired renal concentrating ability

Synonym:

Urine concentrating defect; Urine concentration defect

Definition:

A defect in the ability to concentrate the urine.

Comments:

Reference:

HP:0004727

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired renal ltubular reabsorption of chloride (HP:0005579)

Increased renal tubular phosphate reabsorption (HP:0005571)

Renal Fanconi syndrome (HP:0001994)

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:0004727	HP:0004727	Impaired renal concentrating ability	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0004727	HP:0004727	Impaired renal concentrating ability	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	53
HP:0004727	HP:0004727	Impaired renal concentrating ability	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0004727	HP:0004727	Impaired renal concentrating ability	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	9
HP:0004727	HP:0004727	Impaired renal concentrating ability	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	27
HP:0004727	HP:0004727	Impaired renal concentrating ability	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040282 - Frequent	16
HP:0004727	HP:0004727	Impaired renal concentrating ability	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16
HP:0004727	HP:0004727	Impaired renal concentrating ability	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85

Genes (6) :BSND CEP290 CLCNKA CLCNKB FAM20A NPHP1

Diseases (6) :OMIM:602522 ORPHA:89938 OMIM:610188 ORPHA:1031 OMIM:204690 OMIM:266900

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