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 demyelination (HP:0011096)

..Starting node
..Segmental peripheral demyelination/remyelination (HP:0003481)

Term ID:

3481

Name:

Segmental peripheral demyelination/remyelination

Synonym:

Segmental demyelination/remyelination

Definition:

A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.

Comments:

Reference:

HP:0003481

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetric peripheral demyelination (HP:0030176)

Diffuse peripheral demyelination (HP:0006881)

Segmental peripheral demyelination (HP:0007107)

Symmetric peripheral demyelination (HP:0007262)

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:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.	167
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.	74
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.	134
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.	79
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5		49
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003481	HP:0003481	Segmental peripheral demyelination/remyelination	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional

Genes (22) :ATP6 DNM2 EGR2 GBF1 LITAF MPZ ND1 ND2 ND3 ND4 ND5 ND6 NDRG1 NEFL PMP22 PRPS1 PRX SBF2 TRNK TRNL1 TRNV TRNW

Diseases (13) :ORPHA:255210 OMIM:606482 OMIM:145900 OMIM:606483 OMIM:601098 OMIM:607791 OMIM:180800 OMIM:601455 OMIM:607734 OMIM:118220 OMIM:162500 OMIM:311070 OMIM:604563

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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