Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormality of metabolism/homeostasis (HP:0001939)

Grandparent Node:
Abnormality of the urinary system physiology (HP:0011277)

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

..Starting node
..Increased urinary glycerol (HP:0040301)

Term ID:

40301

Name:

Increased urinary glycerol

Synonym:

Definition:

An increased concentration of glycerol in the urine.

Comments:

Reference:

HP:0040301

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal urinary acylglycine profile (HP:0012073)

Abnormal urinary color (HP:0012086)

Abnormal urinary electrolyte concentration (HP:0012591)

Abnormal urinary odor (HP:0012088)

Abnormal urinary sulfate concentration (HP:0012612)

Abnormal urine alpha-ketoglutarate concentration (HP:0012401)

Abnormal urine citrate concentration (HP:0012404)

Abnormal urine cytology (HP:0012614)

Abnormality of urinary uric acid level (HP:0012610)

Abnormality of urine bicarbonate level (HP:0011279)

Abnormality of urine catecholamine level (HP:0011281)

Absent urinary urothione (HP:0003606)

Aciduria (HP:0012072)

Bacteriuria (HP:0012461)

Bilirubinuria (HP:0031811)

Elevated urine pyrophosphate (HP:0003491)

Foamy urine (HP:0031504)

Hemoglobinuria (HP:0003641)

Hemosiderinuria (HP:0012543)

Hyperuricosuria (HP:0003149)

Hyposthenuria (HP:0003158)

Increased urinary sulfite (HP:0011942)

Increased urinary thiosulfate (HP:0011943)

Increased urine urobilinogen (HP:0031890)

Ketonuria (HP:0002919)

Low urinary cyclic AMP response to PTH administration (HP:0003456)

Myoglobinuria (HP:0002913)

Nitrituria (HP:0031812)

obsolete Abnormality of urine glucose concentration (HP:0011016)

Parathormone-independent increased renal tubular calcium reabsorption (HP:0003529)

Proteinuria (HP:0000093)

Trimethylaminuria (HP:0003614)

Urinary glycosaminoglycan excretion (HP:0003541)

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:0040301	HP:0040301	Increased urinary glycerol	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.	64
HP:0040301	HP:0040301	Increased urinary glycerol	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0040301	HP:0040301	Increased urinary glycerol	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0040301	HP:0040301	Increased urinary glycerol	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82

Genes (3) :FBP1 GK SLC25A13

Diseases (4) :OMIM:229700 ORPHA:348 OMIM:307030 ORPHA:247598

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen