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:
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
..Prolinuria (HP:0003137)

Term ID:

3137

Name:

Prolinuria

Synonym:

Definition:

An increased concentration of proline in the urine.

Comments:

Reference:

HP:0003137

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)

Hydroxyprolinuria (HP:0003080)

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)

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:0003137	HP:0003137	Prolinuria	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040281 - Very frequent	74
HP:0003137	HP:0003137	Prolinuria	0	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II	.	74
HP:0003137	HP:0003137	Prolinuria	0	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.	5
HP:0003137	HP:0003137	Prolinuria	0	PRODH CL E G H	5625	9453	ORPHA:419	Hyperprolinemia type 1	HP:0040282 - Frequent	13
HP:0003137	HP:0003137	Prolinuria	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I		13
HP:0003137	HP:0003137	Prolinuria	0	SLC36A2 CL E G H	153201	18762	OMIM:242600	IMINOGLYCINURIA	.	2
HP:0003137	HP:0003137	Prolinuria	0	SLC36A2 CL E G H	153201	18762	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate	2
HP:0003137	HP:0003137	Prolinuria	0	SLC6A18 CL E G H	348932	26441	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate
HP:0003137	HP:0003137	Prolinuria	0	SLC6A19 CL E G H	340024	27960	OMIM:242600	IMINOGLYCINURIA	.	12
HP:0003137	HP:0003137	Prolinuria	0	SLC6A19 CL E G H	340024	27960	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate	12
HP:0003137	HP:0003137	Prolinuria	0	SLC6A20 CL E G H	54716	30927	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate	96
HP:0003137	HP:0003137	Prolinuria	0	SLC6A20 CL E G H	54716	30927	OMIM:242600	IMINOGLYCINURIA	.	96

Genes (7) :ALDH4A1 OPLAH PRODH SLC36A2 SLC6A18 SLC6A19 SLC6A20

Diseases (7) :ORPHA:79101 OMIM:239510 OMIM:260005 ORPHA:419 OMIM:239500 OMIM:242600 ORPHA:42062

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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