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:
Peripheral axonal degeneration (HP:0000764)

Grandparent Node:
Peripheral neuropathy (HP:0009830)

Parent Node:
Peripheral axonal neuropathy (HP:0003477)

..Starting node
..Chronic axonal neuropathy (HP:0007267)

Term ID:

7267

Name:

Chronic axonal neuropathy

Synonym:

Chronic sural axonal neuropathy

Definition:

An abnormality characterized by chronic impairment of the normal functioning of the axons.

Comments:

Reference:

HP:0007267

Genes and Diseases:

Child Nodes:

Sister Nodes:

Motor axonal neuropathy (HP:0007002)

Sensory axonal neuropathy (HP:0003390)

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:0007267	HP:0007267	Chronic axonal neuropathy	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent	39
HP:0007267	HP:0007267	Chronic axonal neuropathy	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0007267	HP:0007267	Chronic axonal neuropathy	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0007267	HP:0007267	Chronic axonal neuropathy	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.	47
HP:0007267	HP:0007267	Chronic axonal neuropathy	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	HP:0040283 - Occasional	121
HP:0007267	HP:0007267	Chronic axonal neuropathy	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0007267	HP:0007267	Chronic axonal neuropathy	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.	54
HP:0007267	HP:0007267	Chronic axonal neuropathy	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129

Genes (7) :COG8 GDAP1 HSPB1 KCNJ10 SETX SPTLC1 SYNE1

Diseases (8) :ORPHA:95428 ORPHA:101097 ORPHA:99948 OMIM:606595 OMIM:612780 OMIM:606002 OMIM:162400 ORPHA:88644

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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