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 CNS myelination (HP:0011400)

Parent Node:
Abnormality of the spinal cord (HP:0002143)

Parent Node:
CNS demyelination (HP:0007305)

..Starting node
..Spinal cord posterior columns myelin loss (HP:0008311)

Term ID:

8311

Name:

Spinal cord posterior columns myelin loss

Synonym:

Definition:

Comments:

Reference:

HP:0008311

Genes and Diseases:

Child Nodes:

Sister Nodes:

Diffuse demyelination of the cerebral white matter (HP:0007162)

Patchy demyelination of subcortical white matter (HP:0002545)

Severe demyelination of the white matter (HP:0007258)

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:0008311	HP:0008311	Spinal cord posterior columns myelin loss	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0008311	HP:0008311	Spinal cord posterior columns myelin loss	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0008311	HP:0008311	Spinal cord posterior columns myelin loss	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49

Genes (2) :ATXN2 PRPS1

Diseases (3) :ORPHA:98756 OMIM:301835 ORPHA:1187

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