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:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Spinal canal stenosis (HP:0003416)

..Starting node
..Cervical spinal canal stenosis (HP:0008445)

Term ID:

8445

Name:

Cervical spinal canal stenosis

Synonym:

Narrow cervical spinal canal

Definition:

An abnormal narrowing of the cervical spinal canal.

Comments:

Reference:

HP:0008445

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lumbar spinal canal stenosis (HP:0004610)

Spinal stenosis with reduced interpedicular distance (HP:0005733)

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:0008445	HP:0008445	Cervical spinal canal stenosis	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0008445	HP:0008445	Cervical spinal canal stenosis	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0008445	HP:0008445	Cervical spinal canal stenosis	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0008445	HP:0008445	Cervical spinal canal stenosis	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0008445	HP:0008445	Cervical spinal canal stenosis	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0008445	HP:0008445	Cervical spinal canal stenosis	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0008445	HP:0008445	Cervical spinal canal stenosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0008445	HP:0008445	Cervical spinal canal stenosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0008445	HP:0008445	Cervical spinal canal stenosis	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0008445	HP:0008445	Cervical spinal canal stenosis	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29

Genes (8) :ARSL CSPP1 EXTL3 FGFR3 IARS2 KANSL1 KIAA0586 PHF6

Diseases (9) :ORPHA:79345 ORPHA:397715 ORPHA:508533 ORPHA:15 ORPHA:436174 OMIM:616007 ORPHA:363958 ORPHA:363965 OMIM:301900

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

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