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 amino acid metabolism (HP:0004337)

Grandparent Node:
Aciduria (HP:0012072)

Parent Node:
Abnormal circulating proline concentration (HP:0010907)

Parent Node:
Aminoaciduria (HP:0003355)

..Starting node
..Hydroxyprolinuria (HP:0003080)

Term ID:

3080

Name:

Hydroxyprolinuria

Synonym:

Elevated urinary hydroxyproline

Definition:

An increased concentration of 4-hydroxy-L-proline in the urine.

Comments:

Reference:

HP:0003080

Genes and Diseases:

Child Nodes:

Sister Nodes:

3-Methylglutaconic aciduria (HP:0003535)

Argininuria (HP:0003268)

Carnosinuria (HP:0003167)

Complex organic aciduria (HP:0008336)

Cystathioninuria (HP:0003153)

Cystinuria (HP:0003131)

Diaminoaciduria (HP:0008339)

Dibasicaminoaciduria (HP:0003168)

Elevated urinary aminoisobutyric acid (HP:0045034)

Generalized aminoaciduria (HP:0002909)

Histidinuria (HP:0002927)

Homocystinuria (HP:0002156)

Hyperglutaminuria (HP:0025376)

Hyperglycinuria (HP:0003108)

Hyperlysinuria (HP:0003297)

Hyperthreoninuria (HP:0003296)

Increased urinary taurine (HP:0003166)

Lacticaciduria (HP:0003648)

Neutral hyperaminoaciduria (HP:0008353)

obsolete Renal aminoaciduria (HP:0008335)

Ornithinuria (HP:0003532)

Phosphohydroxylysinuria (HP:0031870)

Prolinuria (HP:0003137)

Transient aminoaciduria (HP:0008273)

Tryptophanuria (HP:0003361)

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:0003080	HP:0003080	Hydroxyprolinuria	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040281 - Very frequent	74
HP:0003080	HP:0003080	Hydroxyprolinuria	0	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II	.	74
HP:0003080	HP:0003080	Hydroxyprolinuria	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	45
HP:0003080	HP:0003080	Hydroxyprolinuria	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I	.	13
HP:0003080	HP:0003080	Hydroxyprolinuria	0	SLC36A2 CL E G H	153201	18762	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate	2
HP:0003080	HP:0003080	Hydroxyprolinuria	0	SLC36A2 CL E G H	153201	18762	OMIM:242600	IMINOGLYCINURIA	.	2
HP:0003080	HP:0003080	Hydroxyprolinuria	0	SLC6A18 CL E G H	348932	26441	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate
HP:0003080	HP:0003080	Hydroxyprolinuria	0	SLC6A19 CL E G H	340024	27960	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate	12
HP:0003080	HP:0003080	Hydroxyprolinuria	0	SLC6A19 CL E G H	340024	27960	OMIM:242600	IMINOGLYCINURIA	.	12
HP:0003080	HP:0003080	Hydroxyprolinuria	0	SLC6A20 CL E G H	54716	30927	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate	96
HP:0003080	HP:0003080	Hydroxyprolinuria	0	SLC6A20 CL E G H	54716	30927	OMIM:242600	IMINOGLYCINURIA	.	96
HP:0003080	HP:0003080	Hydroxyprolinuria	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.	72
HP:0003080	HP:0003080	Hydroxyprolinuria	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0003080	HP:0003080	Hydroxyprolinuria	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44

Genes (9) :ALDH4A1 PLOD2 PRODH SLC36A2 SLC6A18 SLC6A19 SLC6A20 TNFRSF11A TNFRSF11B

Diseases (9) :ORPHA:79101 OMIM:239510 OMIM:609220 OMIM:239500 ORPHA:42062 OMIM:242600 OMIM:174810 OMIM:602080 OMIM:239000

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