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 lipid concentration (HP:0003119)

Parent Node:
Abnormality of liposaccharide metabolism (HP:0010968)

..Starting node
..Abnormality of glycolipid metabolism (HP:0010969)

Term ID:

10969

Name:

Abnormality of glycolipid metabolism

Synonym:

Definition:

An abnormality of glycolipid metabolism.

Comments:

Reference:

HP:0010969

Genes and Diseases:

Child Nodes:

........

Abnormality of glycosphingolipid metabolism (HP:0004343)

................... HP:0004344 Abnormality of cerebrosidase metabolism
................... HP:0004345 Abnormality of ganglioside metabolism

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:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	KHK CL E G H	3795	6315	ORPHA:2056	Essential fructosuria	HP:0040281 - Very frequent	49
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency		81
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0010969	HP:0010969	Abnormality of glycolipid metabolism	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0010969	HP:0004343	Abnormal glycosphingolipid metabolism	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	253
HP:0010969	HP:0004343	Abnormal glycosphingolipid metabolism	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	253
HP:0010969	HP:0004343	Abnormal glycosphingolipid metabolism	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0010969	HP:0004343	Abnormal glycosphingolipid metabolism	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0010969	HP:0004343	Abnormal glycosphingolipid metabolism	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0010969	HP:0004343	Abnormal glycosphingolipid metabolism	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0010969	HP:0004343	Abnormal glycosphingolipid metabolism	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0010969	HP:0004343	Abnormal glycosphingolipid metabolism	1	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0010969	HP:0004343	Abnormal glycosphingolipid metabolism	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	81
HP:0010969	HP:0004343	Abnormal glycosphingolipid metabolism	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	81
HP:0010969	HP:0410370	Absence of ganglioside GM3	2	CL E G H
HP:0010969	HP:0410368	Increased globoside Gb3 level	2	CL E G H
HP:0010969	HP:0410366	Increased globoside Gb4 level	2	CL E G H
HP:0010969	HP:0004344	Abnormality of cerebrosidase metabolism	2	CL E G H
HP:0010969	HP:0033595	Elevated circulating globotriaosylceramide concentration	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0010969	HP:0004345	Ganglioside accumulation	2	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0010969	HP:0004345	Ganglioside accumulation	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0010969	HP:0004345	Ganglioside accumulation	2	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent	78
HP:0010969	HP:0020160	GM1-ganglioside accumulation	3	CL E G H
HP:0010969	HP:0003495	GM2-ganglioside accumulation	3	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69

Genes (10) :ARSA COX1 COX3 GLA GM2A HEXB KHK LPIN1 MCOLN1 PSAP

Diseases (10) :ORPHA:309271 ORPHA:309263 ORPHA:99845 OMIM:301500 OMIM:272750 OMIM:268800 ORPHA:2056 OMIM:252650 ORPHA:578 OMIM:611721

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