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

Parent Node:
Atrophy of the spinal cord (HP:0006827)

..Starting node
..Cervical spinal cord atrophy (HP:0010873)

Term ID:

10873

Name:

Cervical spinal cord atrophy

Synonym:

Definition:

Atrophy of the cervical segment of the spinal cord.

Comments:

Reference:

HP:0010873

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:0010873	HP:0010873	Cervical spinal cord atrophy	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0010873	HP:0010873	Cervical spinal cord atrophy	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0010873	HP:0010873	Cervical spinal cord atrophy	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0010873	HP:0010873	Cervical spinal cord atrophy	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0010873	HP:0010873	Cervical spinal cord atrophy	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040283 - Occasional	171

Genes (5) :FXN GFAP NEFL PI4KA SPG7

Diseases (5) :ORPHA:95 ORPHA:363722 ORPHA:101085 OMIM:619621 ORPHA:35689

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