Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	AARS CL E G H	16	613287	Charcot-Marie-Tooth disease, type 2N	613287	C2750090	OMIM	1		20	601065
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ABCA1 CL E G H	19	31150				ORPHA	1	1280	29	600046
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	1280	29	600046
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	392	469	102771
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	1	165	24268	614215
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ATAD3A CL E G H	55210	496790				ORPHA	1	399	25567	612316
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	399	25567	612316
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	517	11231	606439
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1		26784	613541
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	361	1618	610150
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	COASY CL E G H	80347	397725				ORPHA	1	281	29932	609855
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	397	25538	610956
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	DCAF8 CL E G H	50717	610100	Giant axonal neuropathy 2, autosomal dominant	610100	C1864695	OMIM	1	49	24891	615820
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	FLRT1 CL E G H	23769	320406				ORPHA	1	154	3760	604806
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	GBA2 CL E G H	57704	352641				ORPHA	1	355	18986	609471
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	GBE1 CL E G H	2632	263570	Polyglucosan body disease, adult	263570	C1849722	OMIM	1	784	4180	607839
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	HSPB1 CL E G H	3315	99940				ORPHA	1	366	5246	602195
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	HSPB8 CL E G H	26353	608673	Charcot-Marie-Tooth disease, type 2L	608673	C1837552	OMIM	1	223	30171	608014
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	IBA57 CL E G H	200205	468661				ORPHA	1	271	27302	615316
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	IBA57 CL E G H	200205	616451	Spastic paraplegia 74, autosomal recessive	616451	C4225322	OMIM	1	271	27302	615316
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	KIF1A CL E G H	547	610357	Spastic paraplegia 30, autosomal recessive	610357	C1835896	OMIM	1	2622	888	601255
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	KLC2 CL E G H	64837	320406				ORPHA	1	104	20716	611729
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MARS CL E G H	4141	616280	Charcot-Marie-Tooth disease, axonal, type 2u	616280	C4084821	OMIM	1		6898	156560
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	1	1245	6946	603294
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MME CL E G H	4311	497764				ORPHA	1	577	7154	120520
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MPZ CL E G H	4359	101082				ORPHA	1	607	7225	159440
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MT-ATP6 CL E G H	4508	320360				ORPHA	1		7414	516060
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	NAGA CL E G H	4668	609242	Kanzaki disease	609242	C1836522	OMIM	1	230	7631	104170
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	PNPLA6 CL E G H	10908	275400	Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina	275400	C1848745	OMIM	1	1216	16268	603197
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	RETREG1 CL E G H	54463	613115	Hereditary sensory and autonomic neuropathy type IIB	613115	C2751092	OMIM	1	523	25964	613114
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	SERPING1 CL E G H	710	106100	Hereditary angioedema type 1	106100	C2717906	OMIM	1	458	1228	606860
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	SH3TC2 CL E G H	79628	613353	Mononeuropathy of the median nerve, mild	613353	C3150596	OMIM	1	1674	29427	608206
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	SLC25A19 CL E G H	60386	613710	Striatal necrosis, bilateral, and progressive polyneuropathy	613710	C3150973	OMIM	1	182	14409	606521
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	SPG11 CL E G H	80208	616668	Charcot-Marie-Tooth disease, axonal type 2X	616668	C4225253	OMIM	1	2625	11226	610844
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	TBCE CL E G H	6905	496756				ORPHA	1	456	11582	604934
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	TBCE CL E G H	6905	617207	Encephalopathy, progressive, with amyotrophy and optic atrophy	617207	C4310667	OMIM	1	456	11582	604934
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	TDP1 CL E G H	55775	607250	Spinocerebellar ataxia autosomal recessive with axonal neuropathy	607250	C1846574	OMIM	1	235	18884	607198
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	404	15974	614141
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	TRIP4 CL E G H	9325	616866	Spinal muscular atrophy with congenital bone fractures 1	616866	C4225177	OMIM	1	212	12310	604501
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	377	12405	176300
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	1034	23595	608877
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	WFS1 CL E G H	7466	411590				ORPHA	1	1634	12762	606201
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	AARS CL E G H	16	613287	Charcot-Marie-Tooth disease, type 2N	613287	C2750090	OMIM	1		20	601065
HP:0003477	HP:0007002	Motor axonal neuropathy	1	AARS CL E G H	16	613287	Charcot-Marie-Tooth disease, type 2N	613287	C2750090	OMIM	1		20	601065
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	AARS CL E G H	16	613287	Charcot-Marie-Tooth disease, type 2N	613287	C2750090	OMIM	1		20	601065
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ABCA1 CL E G H	19	31150				ORPHA	1	1280	29	600046
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ABCA1 CL E G H	19	31150				ORPHA	1	1280	29	600046
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ABCA1 CL E G H	19	31150				ORPHA	1	1280	29	600046
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	1280	29	600046
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	1280	29	600046
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	1280	29	600046
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0003477	HP:0007002	Motor axonal neuropathy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	392	469	102771
HP:0003477	HP:0007002	Motor axonal neuropathy	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	392	469	102771
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	392	469	102771
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	1	165	24268	614215
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	1	165	24268	614215
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	1	165	24268	614215
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ATAD3A CL E G H	55210	496790				ORPHA	1	399	25567	612316
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ATAD3A CL E G H	55210	496790				ORPHA	1	399	25567	612316
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ATAD3A CL E G H	55210	496790				ORPHA	1	399	25567	612316
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	399	25567	612316
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	399	25567	612316
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	399	25567	612316
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	517	11231	606439
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	517	11231	606439
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	517	11231	606439
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1		26784	613541
HP:0003477	HP:0007002	Motor axonal neuropathy	1	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1		26784	613541
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1		26784	613541
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	361	1618	610150
HP:0003477	HP:0007002	Motor axonal neuropathy	1	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	361	1618	610150
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	361	1618	610150
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	COASY CL E G H	80347	397725				ORPHA	1	281	29932	609855
HP:0003477	HP:0007002	Motor axonal neuropathy	1	COASY CL E G H	80347	397725				ORPHA	1	281	29932	609855
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	COASY CL E G H	80347	397725				ORPHA	1	281	29932	609855
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	397	25538	610956
HP:0003477	HP:0007002	Motor axonal neuropathy	1	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	397	25538	610956
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	397	25538	610956
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	DCAF8 CL E G H	50717	610100	Giant axonal neuropathy 2, autosomal dominant	610100	C1864695	OMIM	1	49	24891	615820
HP:0003477	HP:0007002	Motor axonal neuropathy	1	DCAF8 CL E G H	50717	610100	Giant axonal neuropathy 2, autosomal dominant	610100	C1864695	OMIM	1	49	24891	615820
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	DCAF8 CL E G H	50717	610100	Giant axonal neuropathy 2, autosomal dominant	610100	C1864695	OMIM	1	49	24891	615820
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003477	HP:0007002	Motor axonal neuropathy	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	FLRT1 CL E G H	23769	320406				ORPHA	1	154	3760	604806
HP:0003477	HP:0007002	Motor axonal neuropathy	1	FLRT1 CL E G H	23769	320406				ORPHA	1	154	3760	604806
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	FLRT1 CL E G H	23769	320406				ORPHA	1	154	3760	604806
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	GBA2 CL E G H	57704	352641				ORPHA	1	355	18986	609471
HP:0003477	HP:0007002	Motor axonal neuropathy	1	GBA2 CL E G H	57704	352641				ORPHA	1	355	18986	609471
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	GBA2 CL E G H	57704	352641				ORPHA	1	355	18986	609471
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	GBE1 CL E G H	2632	263570	Polyglucosan body disease, adult	263570	C1849722	OMIM	1	784	4180	607839
HP:0003477	HP:0007002	Motor axonal neuropathy	1	GBE1 CL E G H	2632	263570	Polyglucosan body disease, adult	263570	C1849722	OMIM	1	784	4180	607839
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	GBE1 CL E G H	2632	263570	Polyglucosan body disease, adult	263570	C1849722	OMIM	1	784	4180	607839
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	HSPB1 CL E G H	3315	99940				ORPHA	1	366	5246	602195
HP:0003477	HP:0007002	Motor axonal neuropathy	1	HSPB1 CL E G H	3315	99940				ORPHA	1	366	5246	602195
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	HSPB1 CL E G H	3315	99940				ORPHA	1	366	5246	602195
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	HSPB8 CL E G H	26353	608673	Charcot-Marie-Tooth disease, type 2L	608673	C1837552	OMIM	1	223	30171	608014
HP:0003477	HP:0007002	Motor axonal neuropathy	1	HSPB8 CL E G H	26353	608673	Charcot-Marie-Tooth disease, type 2L	608673	C1837552	OMIM	1	223	30171	608014
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	HSPB8 CL E G H	26353	608673	Charcot-Marie-Tooth disease, type 2L	608673	C1837552	OMIM	1	223	30171	608014
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	IBA57 CL E G H	200205	468661				ORPHA	1	271	27302	615316
HP:0003477	HP:0007002	Motor axonal neuropathy	1	IBA57 CL E G H	200205	468661				ORPHA	1	271	27302	615316
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	IBA57 CL E G H	200205	468661				ORPHA	1	271	27302	615316
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	IBA57 CL E G H	200205	616451	Spastic paraplegia 74, autosomal recessive	616451	C4225322	OMIM	1	271	27302	615316
HP:0003477	HP:0007002	Motor axonal neuropathy	1	IBA57 CL E G H	200205	616451	Spastic paraplegia 74, autosomal recessive	616451	C4225322	OMIM	1	271	27302	615316
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	IBA57 CL E G H	200205	616451	Spastic paraplegia 74, autosomal recessive	616451	C4225322	OMIM	1	271	27302	615316
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	KIF1A CL E G H	547	610357	Spastic paraplegia 30, autosomal recessive	610357	C1835896	OMIM	1	2622	888	601255
HP:0003477	HP:0007002	Motor axonal neuropathy	1	KIF1A CL E G H	547	610357	Spastic paraplegia 30, autosomal recessive	610357	C1835896	OMIM	1	2622	888	601255
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	KIF1A CL E G H	547	610357	Spastic paraplegia 30, autosomal recessive	610357	C1835896	OMIM	1	2622	888	601255
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	KLC2 CL E G H	64837	320406				ORPHA	1	104	20716	611729
HP:0003477	HP:0007002	Motor axonal neuropathy	1	KLC2 CL E G H	64837	320406				ORPHA	1	104	20716	611729
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	KLC2 CL E G H	64837	320406				ORPHA	1	104	20716	611729
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0003477	HP:0007002	Motor axonal neuropathy	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MARS CL E G H	4141	616280	Charcot-Marie-Tooth disease, axonal, type 2u	616280	C4084821	OMIM	1		6898	156560
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MARS CL E G H	4141	616280	Charcot-Marie-Tooth disease, axonal, type 2u	616280	C4084821	OMIM	1		6898	156560
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MARS CL E G H	4141	616280	Charcot-Marie-Tooth disease, axonal, type 2u	616280	C4084821	OMIM	1		6898	156560
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	1	1245	6946	603294
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	1	1245	6946	603294
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	1	1245	6946	603294
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MME CL E G H	4311	497764				ORPHA	1	577	7154	120520
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MME CL E G H	4311	497764				ORPHA	1	577	7154	120520
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MME CL E G H	4311	497764				ORPHA	1	577	7154	120520
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MPZ CL E G H	4359	101082				ORPHA	1	607	7225	159440
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MPZ CL E G H	4359	101082				ORPHA	1	607	7225	159440
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MPZ CL E G H	4359	101082				ORPHA	1	607	7225	159440
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MT-ATP6 CL E G H	4508	320360				ORPHA	1		7414	516060
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MT-ATP6 CL E G H	4508	320360				ORPHA	1		7414	516060
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MT-ATP6 CL E G H	4508	320360				ORPHA	1		7414	516060
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	NAGA CL E G H	4668	609242	Kanzaki disease	609242	C1836522	OMIM	1	230	7631	104170
HP:0003477	HP:0007002	Motor axonal neuropathy	1	NAGA CL E G H	4668	609242	Kanzaki disease	609242	C1836522	OMIM	1	230	7631	104170
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	NAGA CL E G H	4668	609242	Kanzaki disease	609242	C1836522	OMIM	1	230	7631	104170
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	PNPLA6 CL E G H	10908	275400	Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina	275400	C1848745	OMIM	1	1216	16268	603197
HP:0003477	HP:0007002	Motor axonal neuropathy	1	PNPLA6 CL E G H	10908	275400	Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina	275400	C1848745	OMIM	1	1216	16268	603197
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	PNPLA6 CL E G H	10908	275400	Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina	275400	C1848745	OMIM	1	1216	16268	603197
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0003477	HP:0007002	Motor axonal neuropathy	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	RETREG1 CL E G H	54463	613115	Hereditary sensory and autonomic neuropathy type IIB	613115	C2751092	OMIM	1	523	25964	613114
HP:0003477	HP:0007002	Motor axonal neuropathy	1	RETREG1 CL E G H	54463	613115	Hereditary sensory and autonomic neuropathy type IIB	613115	C2751092	OMIM	1	523	25964	613114
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	RETREG1 CL E G H	54463	613115	Hereditary sensory and autonomic neuropathy type IIB	613115	C2751092	OMIM	1	523	25964	613114
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0003477	HP:0007002	Motor axonal neuropathy	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	SERPING1 CL E G H	710	106100	Hereditary angioedema type 1	106100	C2717906	OMIM	1	458	1228	606860
HP:0003477	HP:0007002	Motor axonal neuropathy	1	SERPING1 CL E G H	710	106100	Hereditary angioedema type 1	106100	C2717906	OMIM	1	458	1228	606860
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	SERPING1 CL E G H	710	106100	Hereditary angioedema type 1	106100	C2717906	OMIM	1	458	1228	606860
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	SH3TC2 CL E G H	79628	613353	Mononeuropathy of the median nerve, mild	613353	C3150596	OMIM	1	1674	29427	608206
HP:0003477	HP:0007002	Motor axonal neuropathy	1	SH3TC2 CL E G H	79628	613353	Mononeuropathy of the median nerve, mild	613353	C3150596	OMIM	1	1674	29427	608206
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	SH3TC2 CL E G H	79628	613353	Mononeuropathy of the median nerve, mild	613353	C3150596	OMIM	1	1674	29427	608206
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0003477	HP:0007002	Motor axonal neuropathy	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	SLC25A19 CL E G H	60386	613710	Striatal necrosis, bilateral, and progressive polyneuropathy	613710	C3150973	OMIM	1	182	14409	606521
HP:0003477	HP:0007002	Motor axonal neuropathy	1	SLC25A19 CL E G H	60386	613710	Striatal necrosis, bilateral, and progressive polyneuropathy	613710	C3150973	OMIM	1	182	14409	606521
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	SLC25A19 CL E G H	60386	613710	Striatal necrosis, bilateral, and progressive polyneuropathy	613710	C3150973	OMIM	1	182	14409	606521
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	SPG11 CL E G H	80208	616668	Charcot-Marie-Tooth disease, axonal type 2X	616668	C4225253	OMIM	1	2625	11226	610844
HP:0003477	HP:0007002	Motor axonal neuropathy	1	SPG11 CL E G H	80208	616668	Charcot-Marie-Tooth disease, axonal type 2X	616668	C4225253	OMIM	1	2625	11226	610844
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	SPG11 CL E G H	80208	616668	Charcot-Marie-Tooth disease, axonal type 2X	616668	C4225253	OMIM	1	2625	11226	610844
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	TBCE CL E G H	6905	496756				ORPHA	1	456	11582	604934
HP:0003477	HP:0007002	Motor axonal neuropathy	1	TBCE CL E G H	6905	496756				ORPHA	1	456	11582	604934
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	TBCE CL E G H	6905	496756				ORPHA	1	456	11582	604934
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	TBCE CL E G H	6905	617207	Encephalopathy, progressive, with amyotrophy and optic atrophy	617207	C4310667	OMIM	1	456	11582	604934
HP:0003477	HP:0007002	Motor axonal neuropathy	1	TBCE CL E G H	6905	617207	Encephalopathy, progressive, with amyotrophy and optic atrophy	617207	C4310667	OMIM	1	456	11582	604934
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	TBCE CL E G H	6905	617207	Encephalopathy, progressive, with amyotrophy and optic atrophy	617207	C4310667	OMIM	1	456	11582	604934
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	TDP1 CL E G H	55775	607250	Spinocerebellar ataxia autosomal recessive with axonal neuropathy	607250	C1846574	OMIM	1	235	18884	607198
HP:0003477	HP:0007002	Motor axonal neuropathy	1	TDP1 CL E G H	55775	607250	Spinocerebellar ataxia autosomal recessive with axonal neuropathy	607250	C1846574	OMIM	1	235	18884	607198
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	TDP1 CL E G H	55775	607250	Spinocerebellar ataxia autosomal recessive with axonal neuropathy	607250	C1846574	OMIM	1	235	18884	607198
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	404	15974	614141
HP:0003477	HP:0007002	Motor axonal neuropathy	1	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	404	15974	614141
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	404	15974	614141
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	TRIP4 CL E G H	9325	616866	Spinal muscular atrophy with congenital bone fractures 1	616866	C4225177	OMIM	1	212	12310	604501
HP:0003477	HP:0007002	Motor axonal neuropathy	1	TRIP4 CL E G H	9325	616866	Spinal muscular atrophy with congenital bone fractures 1	616866	C4225177	OMIM	1	212	12310	604501
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	TRIP4 CL E G H	9325	616866	Spinal muscular atrophy with congenital bone fractures 1	616866	C4225177	OMIM	1	212	12310	604501
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	377	12405	176300
HP:0003477	HP:0007002	Motor axonal neuropathy	1	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	377	12405	176300
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	377	12405	176300
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0003477	HP:0007002	Motor axonal neuropathy	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	1034	23595	608877
HP:0003477	HP:0007002	Motor axonal neuropathy	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	1034	23595	608877
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	1034	23595	608877
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	WFS1 CL E G H	7466	411590				ORPHA	1	1634	12762	606201
HP:0003477	HP:0007002	Motor axonal neuropathy	1	WFS1 CL E G H	7466	411590				ORPHA	1	1634	12762	606201
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	WFS1 CL E G H	7466	411590				ORPHA	1	1634	12762	606201
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ABCC8 CL E G H	6833	99885				ORPHA	0	1892	59	600509
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ALDH18A1 CL E G H	5832	447757				ORPHA	0	586	9722	138250
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ATXN3 CL E G H	4287	276244				ORPHA	0	65	7106	607047
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	BIN1 CL E G H	274	169189				ORPHA	0	656	1052	601248
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	0	1182	1097	164757
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	CYP2U1 CL E G H	113612	320411				ORPHA	0	291	20582	610670
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	0	439	19714	614603
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	DNM2 CL E G H	1785	169189				ORPHA	0	1088	2974	602378
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	DYNC1H1 CL E G H	1778	614563	Mental retardation, autosomal dominant 13	614563	C3281202	OMIM	0	3787	2961	600112
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	0	297	14415	605512
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	0	105	21308	611805
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	FBLN5 CL E G H	10516	608895	Age-related macular degeneration 3	608895	C1837187	OMIM	0	454	3602	604580
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	GBA2 CL E G H	57704	320391				ORPHA	0	355	18986	609471
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	GCK CL E G H	2645	99885				ORPHA	0	947	4195	138079
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	IFRD1 CL E G H	3475	98771				ORPHA	0	69	5456	603502
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	INS CL E G H	3630	99885				ORPHA	0	185	6081	176730
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	KCNJ11 CL E G H	3767	99885				ORPHA	0	435	6257	600937
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	0	2622	888	601255
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	KLHL9 CL E G H	55958	399081				ORPHA	0	200	18732	611201
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	0		7479	590025
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MTMR14 CL E G H	64419	169189				ORPHA	0	237	26190	611089
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	MYF6 CL E G H	4618	169189				ORPHA	0	81	7566	159991
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	PDX1 CL E G H	3651	99885				ORPHA	0	170	6107	600733
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	RYR1 CL E G H	6261	169189				ORPHA	0	6164	10483	180901
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	0	1556	445	608465
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	STAT3 CL E G H	6774	99885				ORPHA	0	639	11364	102582
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	TRPV4 CL E G H	59341	156530	Metatrophic dysplasia	156530	C0265281	OMIM	0	1018	18083	605427
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	0	320	20772	602661
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0003477	HP:0003477	Peripheral axonal neuropathy	0	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	0	2408	20761	612012
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ABCC8 CL E G H	6833	99885				ORPHA	0	1892	59	600509
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ABCC8 CL E G H	6833	99885				ORPHA	0	1892	59	600509
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ABCC8 CL E G H	6833	99885				ORPHA	0	1892	59	600509
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ALDH18A1 CL E G H	5832	447757				ORPHA	0	586	9722	138250
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ALDH18A1 CL E G H	5832	447757				ORPHA	0	586	9722	138250
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ALDH18A1 CL E G H	5832	447757				ORPHA	0	586	9722	138250
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ATXN3 CL E G H	4287	276244				ORPHA	0	65	7106	607047
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ATXN3 CL E G H	4287	276244				ORPHA	0	65	7106	607047
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ATXN3 CL E G H	4287	276244				ORPHA	0	65	7106	607047
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	BIN1 CL E G H	274	169189				ORPHA	0	656	1052	601248
HP:0003477	HP:0007002	Motor axonal neuropathy	1	BIN1 CL E G H	274	169189				ORPHA	0	656	1052	601248
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	BIN1 CL E G H	274	169189				ORPHA	0	656	1052	601248
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	0	1182	1097	164757
HP:0003477	HP:0007002	Motor axonal neuropathy	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	0	1182	1097	164757
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	0	1182	1097	164757
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	CYP2U1 CL E G H	113612	320411				ORPHA	0	291	20582	610670
HP:0003477	HP:0007002	Motor axonal neuropathy	1	CYP2U1 CL E G H	113612	320411				ORPHA	0	291	20582	610670
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	CYP2U1 CL E G H	113612	320411				ORPHA	0	291	20582	610670
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	0	439	19714	614603
HP:0003477	HP:0007002	Motor axonal neuropathy	1	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	0	439	19714	614603
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	0	439	19714	614603
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	DNM2 CL E G H	1785	169189				ORPHA	0	1088	2974	602378
HP:0003477	HP:0007002	Motor axonal neuropathy	1	DNM2 CL E G H	1785	169189				ORPHA	0	1088	2974	602378
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	DNM2 CL E G H	1785	169189				ORPHA	0	1088	2974	602378
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	DYNC1H1 CL E G H	1778	614563	Mental retardation, autosomal dominant 13	614563	C3281202	OMIM	0	3787	2961	600112
HP:0003477	HP:0007002	Motor axonal neuropathy	1	DYNC1H1 CL E G H	1778	614563	Mental retardation, autosomal dominant 13	614563	C3281202	OMIM	0	3787	2961	600112
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	DYNC1H1 CL E G H	1778	614563	Mental retardation, autosomal dominant 13	614563	C3281202	OMIM	0	3787	2961	600112
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	0	297	14415	605512
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	0	297	14415	605512
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	0	297	14415	605512
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	0	105	21308	611805
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	0	105	21308	611805
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	0	105	21308	611805
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	FBLN5 CL E G H	10516	608895	Age-related macular degeneration 3	608895	C1837187	OMIM	0	454	3602	604580
HP:0003477	HP:0007002	Motor axonal neuropathy	1	FBLN5 CL E G H	10516	608895	Age-related macular degeneration 3	608895	C1837187	OMIM	0	454	3602	604580
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	FBLN5 CL E G H	10516	608895	Age-related macular degeneration 3	608895	C1837187	OMIM	0	454	3602	604580
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	GBA2 CL E G H	57704	320391				ORPHA	0	355	18986	609471
HP:0003477	HP:0007002	Motor axonal neuropathy	1	GBA2 CL E G H	57704	320391				ORPHA	0	355	18986	609471
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	GBA2 CL E G H	57704	320391				ORPHA	0	355	18986	609471
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	GCK CL E G H	2645	99885				ORPHA	0	947	4195	138079
HP:0003477	HP:0007002	Motor axonal neuropathy	1	GCK CL E G H	2645	99885				ORPHA	0	947	4195	138079
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	GCK CL E G H	2645	99885				ORPHA	0	947	4195	138079
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	IFRD1 CL E G H	3475	98771				ORPHA	0	69	5456	603502
HP:0003477	HP:0007002	Motor axonal neuropathy	1	IFRD1 CL E G H	3475	98771				ORPHA	0	69	5456	603502
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	IFRD1 CL E G H	3475	98771				ORPHA	0	69	5456	603502
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	INS CL E G H	3630	99885				ORPHA	0	185	6081	176730
HP:0003477	HP:0007002	Motor axonal neuropathy	1	INS CL E G H	3630	99885				ORPHA	0	185	6081	176730
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	INS CL E G H	3630	99885				ORPHA	0	185	6081	176730
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	KCNJ11 CL E G H	3767	99885				ORPHA	0	435	6257	600937
HP:0003477	HP:0007002	Motor axonal neuropathy	1	KCNJ11 CL E G H	3767	99885				ORPHA	0	435	6257	600937
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	KCNJ11 CL E G H	3767	99885				ORPHA	0	435	6257	600937
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	0	2622	888	601255
HP:0003477	HP:0007002	Motor axonal neuropathy	1	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	0	2622	888	601255
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	0	2622	888	601255
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	KLHL9 CL E G H	55958	399081				ORPHA	0	200	18732	611201
HP:0003477	HP:0007002	Motor axonal neuropathy	1	KLHL9 CL E G H	55958	399081				ORPHA	0	200	18732	611201
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	KLHL9 CL E G H	55958	399081				ORPHA	0	200	18732	611201
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	0		7479	590025
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	0		7479	590025
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	0		7479	590025
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MTMR14 CL E G H	64419	169189				ORPHA	0	237	26190	611089
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MTMR14 CL E G H	64419	169189				ORPHA	0	237	26190	611089
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MTMR14 CL E G H	64419	169189				ORPHA	0	237	26190	611089
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	MYF6 CL E G H	4618	169189				ORPHA	0	81	7566	159991
HP:0003477	HP:0007002	Motor axonal neuropathy	1	MYF6 CL E G H	4618	169189				ORPHA	0	81	7566	159991
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	MYF6 CL E G H	4618	169189				ORPHA	0	81	7566	159991
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	PDX1 CL E G H	3651	99885				ORPHA	0	170	6107	600733
HP:0003477	HP:0007002	Motor axonal neuropathy	1	PDX1 CL E G H	3651	99885				ORPHA	0	170	6107	600733
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	PDX1 CL E G H	3651	99885				ORPHA	0	170	6107	600733
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0003477	HP:0007002	Motor axonal neuropathy	1	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0003477	HP:0007002	Motor axonal neuropathy	1	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0003477	HP:0007002	Motor axonal neuropathy	1	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	RYR1 CL E G H	6261	169189				ORPHA	0	6164	10483	180901
HP:0003477	HP:0007002	Motor axonal neuropathy	1	RYR1 CL E G H	6261	169189				ORPHA	0	6164	10483	180901
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	RYR1 CL E G H	6261	169189				ORPHA	0	6164	10483	180901
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	0	1556	445	608465
HP:0003477	HP:0007002	Motor axonal neuropathy	1	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	0	1556	445	608465
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	0	1556	445	608465
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0003477	HP:0007002	Motor axonal neuropathy	1	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	STAT3 CL E G H	6774	99885				ORPHA	0	639	11364	102582
HP:0003477	HP:0007002	Motor axonal neuropathy	1	STAT3 CL E G H	6774	99885				ORPHA	0	639	11364	102582
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	STAT3 CL E G H	6774	99885				ORPHA	0	639	11364	102582
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	TRPV4 CL E G H	59341	156530	Metatrophic dysplasia	156530	C0265281	OMIM	0	1018	18083	605427
HP:0003477	HP:0007002	Motor axonal neuropathy	1	TRPV4 CL E G H	59341	156530	Metatrophic dysplasia	156530	C0265281	OMIM	0	1018	18083	605427
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	TRPV4 CL E G H	59341	156530	Metatrophic dysplasia	156530	C0265281	OMIM	0	1018	18083	605427
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	0	320	20772	602661
HP:0003477	HP:0007002	Motor axonal neuropathy	1	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	0	320	20772	602661
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	0	320	20772	602661
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0003477	HP:0007002	Motor axonal neuropathy	1	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0003477	HP:0003390	Sensory axonal neuropathy	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	0	2408	20761	612012
HP:0003477	HP:0007002	Motor axonal neuropathy	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	0	2408	20761	612012
HP:0003477	HP:0007267	Chronic axonal neuropathy	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	0	2408	20761	612012