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 nervous system morphology (HP:0000759)

Parent Node:
Abnormal myelination (HP:0012447)

Parent Node:
Peripheral neuropathy (HP:0009830)

..Starting node
..Mixed demyelinating and axonal polyneuropathy (HP:0007327)

Term ID:

7327

Name:

Mixed demyelinating and axonal polyneuropathy

Synonym:

Definition:

Comments:

Reference:

HP:0007327

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute episodes of neuropathic symptoms (HP:0003489)

Chronic sensorineural polyneuropathy (HP:0001301)

Congenital peripheral neuropathy (HP:0006903)

Demyelinating peripheral neuropathy (HP:0007108)

Entrapment neuropathy (HP:0012181)

Episodic peripheral neuropathy (HP:0006949)

Mononeuropathy (HP:0009831)

Motor polyneuropathy (HP:0007178)

Peripheral axonal neuropathy (HP:0003477)

Polyneuropathy (HP:0001271)

Progressive peripheral neuropathy (HP:0007133)

Sensorimotor neuropathy (HP:0007141)

Sensorimotor polyneuropathy affecting arms more than legs (HP:0006865)

Sensory neuropathy (HP:0000763)

Somatic sensory dysfunction (HP:0003474)

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:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent	8
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0007327	HP:0007327	Mixed demyelinating and axonal polyneuropathy	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional

Genes (17) :ATP7B COX1 COX2 COX3 MORC2 ND1 ND4 ND5 ND6 NEFL TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW

Diseases (4) :OMIM:277900 ORPHA:550 ORPHA:466768 ORPHA:101085

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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