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)

Parent Node:
Abnormal circulating glutamine family amino acid concentration (HP:0010902)

..Starting node
..Abnormal circulating glutamine concentration (HP:0010903)

Term ID:

10903

Name:

Abnormal circulating glutamine concentration

Synonym:

Definition:

Any deviation from the normal concentration of glutamine in the blood circulation.

Comments:

Reference:

HP:0010903

Genes and Diseases:

Child Nodes:

........

Hyperglutaminemia (HP:0003217)

Sister Nodes:

Abnormal circulating arginine concentration (HP:0010909)

Abnormal circulating proline concentration (HP:0010907)

Increased level of L-glutamic acid in blood (HP:0410068)

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:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria		81
HP:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria		81
HP:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency		36
HP:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82
HP:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0010903	HP:0010903	Abnormal circulating glutamine concentration	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040281 - Very frequent	34
HP:0010903	HP:0003217	Hyperglutaminemia	1	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040281 - Very frequent	81
HP:0010903	HP:0003217	Hyperglutaminemia	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0010903	HP:0003217	Hyperglutaminemia	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0010903	HP:0003217	Hyperglutaminemia	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010903	HP:0500147	Hypoglutaminemia	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0010903	HP:0003217	Hyperglutaminemia	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0010903	HP:0003217	Hyperglutaminemia	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0010903	HP:0003217	Hyperglutaminemia	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0010903	HP:0003217	Hyperglutaminemia	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104

Genes (10) :ASL ASS1 COX16 GLUL LIPT1 NAGS OTC SLC25A13 SLC7A7 TALDO1

Diseases (11) :ORPHA:23 OMIM:207900 OMIM:215700 OMIM:619355 OMIM:610015 OMIM:616299 ORPHA:927 OMIM:311250 ORPHA:247598 ORPHA:470 ORPHA:101028

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