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:
Abnormal nervous system morphology (HP:0012639)

Parent Node:
Abnormal peripheral nervous system morphology (HP:0000759)

..Starting node
..Diffuse axonal swelling (HP:0003405)

Term ID:

3405

Name:

Diffuse axonal swelling

Synonym:

Definition:

Comments:

Reference:

HP:0003405

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal anterior horn cell morphology (HP:0006802)

Abnormal cranial nerve morphology (HP:0001291)

Abnormal lower motor neuron morphology (HP:0002366)

Abnormal peripheral myelination (HP:0003130)

Abnormality of peripheral nerves (HP:0045010)

Decreased size of nerve terminals (HP:0003443)

Enhanced neurotoxicity of vincristine (HP:0003009)

Hypertrophic nerve changes (HP:0003382)

Minifascicle formation (HP:0031001)

Neoplasm of the peripheral nervous system (HP:0100007)

Neuritis (HP:0031002)

Peripheral axonal degeneration (HP:0000764)

Peripheral neuropathy (HP:0009830)

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:0003405	HP:0003405	Diffuse axonal swelling	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040281 - Very frequent	121
HP:0003405	HP:0003405	Diffuse axonal swelling	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0003405	HP:0003405	Diffuse axonal swelling	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162

Genes (3) :GAN PLA2G6 SETX

Diseases (3) :ORPHA:643 ORPHA:35069 OMIM:602433

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