Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Proteinuria (HP:0000093)

Parent Node:
Albuminuria (HP:0012592)

..Starting node
..Moderate albuminuria (HP:0012594)

Term ID:

12594

Name:

Moderate albuminuria

Synonym:

High urine albumin levels; Microalbuminuria

Definition:

The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).

Comments:

Reference:

HP:0012594

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0012594	HP:0012594	Moderate albuminuria	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0012594	HP:0012594	Moderate albuminuria	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	237
HP:0012594	HP:0012594	Moderate albuminuria	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional	6
HP:0012594	HP:0012594	Moderate albuminuria	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	62
HP:0012594	HP:0012594	Moderate albuminuria	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0012594	HP:0012594	Moderate albuminuria	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0012594	HP:0012594	Moderate albuminuria	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	30
HP:0012594	HP:0012594	Moderate albuminuria	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0012594	HP:0012594	Moderate albuminuria	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	110

Genes (9) :ABCC8 GCK IER3IP1 INS KCNJ11 MIA3 PDX1 SLC37A4 STAT3

Diseases (4) :ORPHA:99885 OMIM:614231 OMIM:619269 OMIM:619525

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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