Human Phenotype Ontology

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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:
Spinal cord compression (HP:0002176)

..Starting node
..Cervical cord compression (HP:0002341)

Term ID:

2341

Name:

Cervical cord compression

Synonym:

Cervical cord compression myelopathy

Definition:

Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.

Comments:

Reference:

HP:0002341

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:0002341	HP:0002341	Cervical cord compression	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002341	HP:0002341	Cervical cord compression	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0002341	HP:0002341	Cervical cord compression	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0002341	HP:0002341	Cervical cord compression	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0002341	HP:0002341	Cervical cord compression	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0002341	HP:0002341	Cervical cord compression	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002341	HP:0002341	Cervical cord compression	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0002341	HP:0002341	Cervical cord compression	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0002341	HP:0002341	Cervical cord compression	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002341	HP:0002341	Cervical cord compression	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.	37

Genes (9) :ARSL COMP CREBBP EP300 EXTL3 IDS IDUA NFIX RMRP

Diseases (10) :ORPHA:79345 OMIM:177170 ORPHA:353281 ORPHA:353277 ORPHA:353284 ORPHA:508533 OMIM:309900 OMIM:607016 OMIM:602535 OMIM:607095

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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