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 glycine concentration (HP:0010895)

Parent Node:
Aminoaciduria (HP:0003355)

..Starting node
..Hyperglycinuria (HP:0003108)

Term ID:

3108

Name:

Hyperglycinuria

Synonym:

Glycinuria; High urine glycine levels

Definition:

An increased concentration of glycine in the urine.

Comments:

Reference:

HP:0003108

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)

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:0003108	HP:0003108	Hyperglycinuria	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0003108	HP:0003108	Hyperglycinuria	0	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II	.	74
HP:0003108	HP:0003108	Hyperglycinuria	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.	56
HP:0003108	HP:0003108	Hyperglycinuria	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.	5
HP:0003108	HP:0003108	Hyperglycinuria	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.	166
HP:0003108	HP:0003108	Hyperglycinuria	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040282 - Frequent	6
HP:0003108	HP:0003108	Hyperglycinuria	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0003108	HP:0003108	Hyperglycinuria	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0003108	HP:0003108	Hyperglycinuria	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0003108	HP:0003108	Hyperglycinuria	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0003108	HP:0003108	Hyperglycinuria	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0003108	HP:0003108	Hyperglycinuria	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I		13
HP:0003108	HP:0003108	Hyperglycinuria	0	SLC36A2 CL E G H	153201	18762	OMIM:138500	Glycinuria with or without oxalate urolithiasis	.	2
HP:0003108	HP:0003108	Hyperglycinuria	0	SLC36A2 CL E G H	153201	18762	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate	2
HP:0003108	HP:0003108	Hyperglycinuria	0	SLC36A2 CL E G H	153201	18762	OMIM:242600	IMINOGLYCINURIA	.	2
HP:0003108	HP:0003108	Hyperglycinuria	0	SLC6A18 CL E G H	348932	26441	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate
HP:0003108	HP:0003108	Hyperglycinuria	0	SLC6A19 CL E G H	340024	27960	OMIM:138500	Glycinuria with or without oxalate urolithiasis	.	12
HP:0003108	HP:0003108	Hyperglycinuria	0	SLC6A19 CL E G H	340024	27960	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate	12
HP:0003108	HP:0003108	Hyperglycinuria	0	SLC6A19 CL E G H	340024	27960	OMIM:242600	IMINOGLYCINURIA	.	12
HP:0003108	HP:0003108	Hyperglycinuria	0	SLC6A20 CL E G H	54716	30927	OMIM:138500	Glycinuria with or without oxalate urolithiasis	.	96
HP:0003108	HP:0003108	Hyperglycinuria	0	SLC6A20 CL E G H	54716	30927	OMIM:242600	IMINOGLYCINURIA	.	96
HP:0003108	HP:0003108	Hyperglycinuria	0	SLC6A20 CL E G H	54716	30927	ORPHA:42062	Iminoglycinuria	HP:0040280 - Obligate	96

Genes (16) :ACADM ALDH4A1 AMT GCSH GLDC GLYCTK IVD MCCC2 NFU1 PCCA PCCB PRODH SLC36A2 SLC6A18 SLC6A19 SLC6A20

Diseases (12) :OMIM:201450 OMIM:239510 OMIM:605899 ORPHA:941 OMIM:243500 OMIM:210210 OMIM:605711 OMIM:606054 OMIM:239500 OMIM:138500 ORPHA:42062 OMIM:242600

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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