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

Parent Node:
Abnormal circulating amino acid concentration (HP:0003112)

Parent Node:
Abnormal circulating glutamine concentration (HP:0010903)

..Starting node
..Hyperglutaminemia (HP:0003217)

Term ID:

3217

Name:

Hyperglutaminemia

Synonym:

High plasma glutamine

Definition:

An increased concentration of glutamine in the blood.

Comments:

Reference:

HP:0003217

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0003217	HP:0003217	Hyperglutaminemia	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0003217	HP:0003217	Hyperglutaminemia	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040281 - Very frequent	81
HP:0003217	HP:0003217	Hyperglutaminemia	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0003217	HP:0003217	Hyperglutaminemia	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003217	HP:0003217	Hyperglutaminemia	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0003217	HP:0003217	Hyperglutaminemia	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0003217	HP:0003217	Hyperglutaminemia	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0003217	HP:0003217	Hyperglutaminemia	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104

Genes (7) :ASL ASS1 COX16 LIPT1 NAGS OTC SLC7A7

Diseases (8) :OMIM:207900 ORPHA:23 OMIM:215700 OMIM:619355 OMIM:616299 ORPHA:927 OMIM:311250 ORPHA:470

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