Human Phenotype Ontology

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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 central motor function (HP:0011442)

Parent Node:
Upper motor neuron dysfunction (HP:0002493)

..Starting node
..Dysfunction of lateral corticospinal tracts (HP:0007299)

Term ID:

7299

Name:

Dysfunction of lateral corticospinal tracts

Synonym:

Definition:

Comments:

Reference:

HP:0007299

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal pyramidal sign (HP:0007256)

Hypertonia (HP:0001276)

Weakness due to upper motor neuron dysfunction (HP:0010549)

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:0007299	HP:0007299	Dysfunction of lateral corticospinal tracts	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0007299	HP:0007299	Dysfunction of lateral corticospinal tracts	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional	5
HP:0007299	HP:0007299	Dysfunction of lateral corticospinal tracts	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional	194
HP:0007299	HP:0007299	Dysfunction of lateral corticospinal tracts	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional	177

Genes (4) :ALDH18A1 BDNF PAX6 WT1

Diseases (2) :OMIM:601162 ORPHA:893

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.