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:
Lower limb spasticity (HP:0002061)

Grandparent Node:
Paraparesis (HP:0002385)

Parent Node:
Spastic paraparesis (HP:0002313)

..Starting node
..Progressive spastic paraparesis (HP:0007199)

Term ID:

7199

Name:

Progressive spastic paraparesis

Synonym:

Definition:

Comments:

Reference:

HP:0007199

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:0007199	HP:0007199	Progressive spastic paraparesis	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent	135
HP:0007199	HP:0007199	Progressive spastic paraparesis	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0007199	HP:0007199	Progressive spastic paraparesis	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0007199	HP:0007199	Progressive spastic paraparesis	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent	160
HP:0007199	HP:0007199	Progressive spastic paraparesis	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0007199	HP:0007199	Progressive spastic paraparesis	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040282 - Frequent	171
HP:0007199	HP:0007199	Progressive spastic paraparesis	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040283 - Occasional	52

Genes (7) :ABCD1 CPT1C FA2H GALC SELENOI SPG7 TBCE

Diseases (7) :ORPHA:139399 ORPHA:444099 ORPHA:329308 ORPHA:206448 ORPHA:506353 ORPHA:35689 ORPHA:496756

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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