Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Morphological central nervous system abnormality (HP:0002011)

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

..Starting node
..Abnormality of the dorsal column of the spinal cord (HP:0011397)

Term ID:

11397

Name:

Abnormality of the dorsal column of the spinal cord

Synonym:

Definition:

An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.

Comments:

Reference:

HP:0011397

Genes and Diseases:

Child Nodes:

........

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

........

Dorsal column degeneration (HP:0007006)

Sister Nodes:

Abnormal spinal meningeal morphology (HP:0010303)

Abnormality of the spinocerebellar tracts (HP:0003133)

Atrophy/Degeneration involving the spinal cord (HP:0007344)

Cervicomedullary schisis (HP:0030325)

Hyperintensity of MRI T2 signal of the spinal cord (HP:0040272)

Long-tract signs (HP:0002423)

Myelitis (HP:0012486)

Myelopathy (HP:0002196)

Spinal arteriovenous malformation (HP:0002390)

Spinal cord compression (HP:0002176)

Spinal cord lesion (HP:0100561)

Spinal cord posterior columns myelin loss (HP:0008311)

Spinal cord tumor (HP:0010302)

Spinal dysraphism (HP:0010301)

Tethered cord (HP:0002144)

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:0011397	HP:0011397	Abnormality of the dorsal column of the spinal cord	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0011397	HP:0011397	Abnormality of the dorsal column of the spinal cord	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0011397	HP:0011397	Abnormality of the dorsal column of the spinal cord	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0011397	HP:0011397	Abnormality of the dorsal column of the spinal cord	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040281 - Very frequent	60
HP:0011397	HP:0011397	Abnormality of the dorsal column of the spinal cord	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0011397	HP:0011397	Abnormality of the dorsal column of the spinal cord	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0011397	HP:0007006	Dorsal column degeneration	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0011397	HP:0007006	Dorsal column degeneration	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0011397	HP:0006825	Pallor of dorsal columns of the spinal cord	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162

Genes (6) :ABCD1 ALDH18A1 ATXN1 DARS2 FAR1 SETX

Diseases (5) :ORPHA:139399 ORPHA:447753 OMIM:164400 ORPHA:137898 OMIM:602433

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen