Human Phenotype Ontology

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:
Abnormality of the spinal cord (HP:0002143)

Parent Node:
Abnormality of the dorsal column of the spinal cord (HP:0011397)

..Starting node
..Dorsal column degeneration (HP:0007006)

Term ID:

7006

Name:

Dorsal column degeneration

Synonym:

Definition:

Comments:

Reference:

HP:0007006

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pallor of dorsal columns of the spinal cord (HP:0006825)

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:0007006	HP:0007006	Dorsal column degeneration	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0007006	HP:0007006	Dorsal column degeneration	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19

Genes (2) :ABCD1 ATXN1

Diseases (2) :ORPHA:139399 OMIM:164400

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