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:
Peripheral axonal degeneration (HP:0000764)

..Starting node
..Axonal degeneration (HP:0040078)

Term ID:

40078

Name:

Axonal degeneration

Synonym:

Definition:

Comments:

Reference:

HP:0040078

Genes and Diseases:

Child Nodes:

Sister Nodes:

Axonal degeneration/regeneration (HP:0003378)

Axonal loss (HP:0003447)

Axonal regeneration (HP:0003450)

Peripheral axonal atrophy (HP:0003384)

Peripheral axonal neuropathy (HP:0003477)

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:0040078	HP:0040078	Axonal degeneration	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent	135
HP:0040078	HP:0040078	Axonal degeneration	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0040078	HP:0040078	Axonal degeneration	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0040078	HP:0040078	Axonal degeneration	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0040078	HP:0040078	Axonal degeneration	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.	167
HP:0040078	HP:0040078	Axonal degeneration	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0040078	HP:0040078	Axonal degeneration	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040282 - Frequent	111
HP:0040078	HP:0040078	Axonal degeneration	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0040078	HP:0040078	Axonal degeneration	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.	107
HP:0040078	HP:0040078	Axonal degeneration	0	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	.	209
HP:0040078	HP:0040078	Axonal degeneration	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0040078	HP:0040078	Axonal degeneration	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0040078	HP:0040078	Axonal degeneration	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0040078	HP:0040078	Axonal degeneration	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0040078	HP:0040078	Axonal degeneration	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0040078	HP:0040078	Axonal degeneration	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0040078	HP:0040078	Axonal degeneration	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0040078	HP:0040078	Axonal degeneration	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.	64
HP:0040078	HP:0040078	Axonal degeneration	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0040078	HP:0040078	Axonal degeneration	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0040078	HP:0040078	Axonal degeneration	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0040078	HP:0040078	Axonal degeneration	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0040078	HP:0040078	Axonal degeneration	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.	3
HP:0040078	HP:0040078	Axonal degeneration	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0040078	HP:0040078	Axonal degeneration	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0040078	HP:0040078	Axonal degeneration	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1

Genes (24) :ABCD1 APTX CTDP1 CYP27A1 DNM2 ERCC6 FLVCR1 GDAP1 GJB1 IGHMBP2 LAMA2 LMNA LRSAM1 NAGA REEP1 SEPTIN9 SERPING1 SETX SH3TC2 SLC25A21 TFG TRIM2 TTC19 TXN2

Diseases (26) :ORPHA:139399 OMIM:208920 OMIM:604168 ORPHA:909 OMIM:606482 OMIM:278800 ORPHA:88628 OMIM:214400 OMIM:302800 OMIM:616155 OMIM:604320 OMIM:618138 ORPHA:98856 OMIM:614436 OMIM:609242 OMIM:620011 OMIM:162100 OMIM:106100 OMIM:602433 OMIM:601596 OMIM:618811 OMIM:604484 OMIM:615490 OMIM:615157 ORPHA:478029 OMIM:616811

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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