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:
Abnormal glucose homeostasis (HP:0011014)

Grandparent Node:
Abnormality of urine homeostasis (HP:0003110)

Parent Node:
obsolete Abnormality of urine glucose concentration (HP:0011016)

..Starting node
..Glycosuria (HP:0003076)

Term ID:

3076

Name:

Glycosuria

Synonym:

Glucose in urine; Glucosuria

Definition:

An increased concentration of glucose in the urine.

Comments:

Reference:

HP:0003076

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Decreased urinary glucose concentration (HP:0045013)

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:0003076	HP:0003076	Glycosuria	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0003076	HP:0003076	Glycosuria	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0003076	HP:0003076	Glycosuria	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040282 - Frequent	245
HP:0003076	HP:0003076	Glycosuria	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0003076	HP:0003076	Glycosuria	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040282 - Frequent	2
HP:0003076	HP:0003076	Glycosuria	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0003076	HP:0003076	Glycosuria	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040282 - Frequent	75
HP:0003076	HP:0003076	Glycosuria	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040282 - Frequent	25
HP:0003076	HP:0003076	Glycosuria	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0003076	HP:0003076	Glycosuria	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	.	112
HP:0003076	HP:0003076	Glycosuria	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0003076	HP:0003076	Glycosuria	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0003076	HP:0003076	Glycosuria	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0003076	HP:0003076	Glycosuria	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0003076	HP:0003076	Glycosuria	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.	2
HP:0003076	HP:0003076	Glycosuria	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0003076	HP:0003076	Glycosuria	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0003076	HP:0003076	Glycosuria	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0003076	HP:0003076	Glycosuria	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0003076	HP:0003076	Glycosuria	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0003076	HP:0003076	Glycosuria	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.	37
HP:0003076	HP:0003076	Glycosuria	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.	86
HP:0003076	HP:0003076	Glycosuria	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0003076	HP:0003076	Glycosuria	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	237
HP:0003076	HP:0003076	Glycosuria	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040282 - Frequent	237
HP:0003076	HP:0003076	Glycosuria	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040282 - Frequent	100
HP:0003076	HP:0003076	Glycosuria	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040282 - Frequent	161
HP:0003076	HP:0003076	Glycosuria	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	HP:0040282 - Frequent	90
HP:0003076	HP:0003076	Glycosuria	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	138
HP:0003076	HP:0003076	Glycosuria	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0003076	HP:0003076	Glycosuria	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040282 - Frequent	138
HP:0003076	HP:0003076	Glycosuria	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	62
HP:0003076	HP:0003076	Glycosuria	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040282 - Frequent	62
HP:0003076	HP:0003076	Glycosuria	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0003076	HP:0003076	Glycosuria	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040282 - Frequent	127
HP:0003076	HP:0003076	Glycosuria	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040282 - Frequent	78
HP:0003076	HP:0003076	Glycosuria	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0003076	HP:0003076	Glycosuria	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0003076	HP:0003076	Glycosuria	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0003076	HP:0003076	Glycosuria	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040282 - Frequent	32
HP:0003076	HP:0003076	Glycosuria	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0003076	HP:0003076	Glycosuria	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0003076	HP:0003076	Glycosuria	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040282 - Frequent	55
HP:0003076	HP:0003076	Glycosuria	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0003076	HP:0003076	Glycosuria	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0003076	HP:0003076	Glycosuria	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040282 - Frequent	30
HP:0003076	HP:0003076	Glycosuria	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040284 - Very rare	46
HP:0003076	HP:0003076	Glycosuria	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0003076	HP:0003076	Glycosuria	0	SLC16A12 CL E G H	387700	23094	OMIM:612018	CATARACT 47; CTRCT47		5
HP:0003076	HP:0003076	Glycosuria	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent	71
HP:0003076	HP:0003076	Glycosuria	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0003076	HP:0003076	Glycosuria	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.	47
HP:0003076	HP:0003076	Glycosuria	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0003076	HP:0003076	Glycosuria	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.	74
HP:0003076	HP:0003076	Glycosuria	0	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria	HP:0040280 - Obligate	41
HP:0003076	HP:0003076	Glycosuria	0	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.	41
HP:0003076	HP:0003076	Glycosuria	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	110
HP:0003076	HP:0003076	Glycosuria	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0003076	HP:0003076	Glycosuria	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0003076	HP:0003076	Glycosuria	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0003076	HP:0003076	Glycosuria	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0003076	HP:0003076	Glycosuria	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27

Genes (45) :ABCC8 ALDOB APPL1 ATP7B BLK CEL CLCN5 COA8 CTNS EHHADH ETFA ETFB ETFDH FAN1 GATA6 GATM GCK GYS2 HNF1A HNF1B HNF4A INS KCNJ11 KLF11 LMNA NDUFAF6 NEUROD1 NSMCE2 PAX2 PAX4 PBX1 PDX1 PIGA RRM2B SLC16A12 SLC2A2 SLC34A1 SLC5A1 SLC5A2 STAT3 SURF1 TRMT5 TRNN TRNS1 VIPAS39

Diseases (37) :OMIM:618857 ORPHA:99885 ORPHA:552 OMIM:229600 OMIM:277900 OMIM:300009 OMIM:308990 ORPHA:436271 OMIM:219800 ORPHA:411629 ORPHA:411634 OMIM:615605 ORPHA:3337 OMIM:231680 OMIM:614817 OMIM:600001 OMIM:134600 ORPHA:2089 OMIM:137920 OMIM:616026 ORPHA:263455 ORPHA:79474 OMIM:618913 OMIM:617253 ORPHA:97362 ORPHA:447 OMIM:268315 OMIM:612018 ORPHA:2088 OMIM:227810 OMIM:613388 OMIM:606824 ORPHA:69076 OMIM:233100 OMIM:220110 OMIM:616539 OMIM:613404

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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