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 peripheral myelination (HP:0003130)

Parent Node:
Peripheral hypermyelination (HP:0030173)

..Starting node
..Myelin tomacula (HP:0030175)

Term ID:

30175

Name:

Myelin tomacula

Synonym:

Tomacula

Definition:

The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).

Comments:

Reference:

HP:0030175

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased peripheral myelin thickness (HP:0030174)

Irregular myelin loops (HP:0007208)

Myelin outfoldings (HP:0004336)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030175	HP:0030175	Myelin tomacula	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	58
HP:0030175	HP:0030175	Myelin tomacula	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	134
HP:0030175	HP:0030175	Myelin tomacula	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	79
HP:0030175	HP:0030175	Myelin tomacula	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	170

Genes (4) :EGR2 MPZ PMP22 PRX

Diseases (1) :OMIM:145900

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