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 outfoldings (HP:0004336)

Term ID:

4336

Name:

Myelin outfoldings

Synonym:

Excessive focal folding of myelin sheaths; Irregular myelin foldings

Definition:

The presence of excessive redundant myelin in the peripheral nerve sheath.

Comments:

Reference:

HP:0004336

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased peripheral myelin thickness (HP:0030174)

Irregular myelin loops (HP:0007208)

Myelin tomacula (HP:0030175)

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:0004336	HP:0004336	Myelin outfoldings	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0004336	HP:0004336	Myelin outfoldings	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1		88
HP:0004336	HP:0004336	Myelin outfoldings	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0004336	HP:0004336	Myelin outfoldings	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0004336	HP:0004336	Myelin outfoldings	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0004336	HP:0004336	Myelin outfoldings	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0004336	HP:0004336	Myelin outfoldings	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61

Genes (7) :MPZ MTMR2 NEFL PMP22 SBF1 SBF2 SOX10

Diseases (7) :OMIM:118200 OMIM:601382 OMIM:607734 OMIM:118220 OMIM:615284 ORPHA:99956 OMIM:609136

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