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:
Abnormal CSF metabolite concentration (HP:0025454)

Parent Node:
Abnormal CSF glucose concentration (HP:0031884)

..Starting node
..Hypoglycorrhachia (HP:0011972)

Term ID:

11972

Name:

Hypoglycorrhachia

Synonym:

Decreased CSF glucose; Low glucose levels in cerebral spinal fluid

Definition:

Abnormally low glucose concentration in the cerebrospinal fluid.

Comments:

Reference:

HP:0011972

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperglycorrhachia (HP:0031885)

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:0011972	HP:0011972	Hypoglycorrhachia	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040281 - Very frequent	255
HP:0011972	HP:0011972	Hypoglycorrhachia	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0011972	HP:0011972	Hypoglycorrhachia	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.	255
HP:0011972	HP:0011972	Hypoglycorrhachia	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent	255
HP:0011972	HP:0011972	Hypoglycorrhachia	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.	255
HP:0011972	HP:0011972	Hypoglycorrhachia	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	20
HP:0011972	HP:0011972	Hypoglycorrhachia	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	6
HP:0011972	HP:0011972	Hypoglycorrhachia	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	3
HP:0011972	HP:0011972	Hypoglycorrhachia	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	2
HP:0011972	HP:0011972	Hypoglycorrhachia	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	5

Genes (6) :SLC2A1 TBK1 TICAM1 TLR3 TRAF3 UNC93B1

Diseases (6) :ORPHA:71277 OMIM:606777 OMIM:612126 ORPHA:168577 OMIM:608885 ORPHA:1930

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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