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:0001272	HP:0001272	Cerebellar atrophy	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001272	HP:0001272	Cerebellar atrophy	0	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	507	118	100850
HP:0001272	HP:0001272	Cerebellar atrophy	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	94	177	104620
HP:0001272	HP:0001272	Cerebellar atrophy	0	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0001272	HP:0001272	Cerebellar atrophy	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	639	291	608222
HP:0001272	HP:0001272	Cerebellar atrophy	0	AFG3L2 CL E G H	10939	313772				ORPHA	1	385	315	604581
HP:0001272	HP:0001272	Cerebellar atrophy	0	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	385	315	604581
HP:0001272	HP:0001272	Cerebellar atrophy	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001272	HP:0001272	Cerebellar atrophy	0	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	66	17258	606830
HP:0001272	HP:0001272	Cerebellar atrophy	0	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	125	20609	600859
HP:0001272	HP:0001272	Cerebellar atrophy	0	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	179	23056	608750
HP:0001272	HP:0001272	Cerebellar atrophy	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	236	15672	606941
HP:0001272	HP:0001272	Cerebellar atrophy	0	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0001272	HP:0001272	Cerebellar atrophy	0	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0001272	HP:0001272	Cerebellar atrophy	0	AP4B1 CL E G H	10717	280763				ORPHA	1	300	572	607245
HP:0001272	HP:0001272	Cerebellar atrophy	0	AP4E1 CL E G H	23431	280763				ORPHA	1	377	573	607244
HP:0001272	HP:0001272	Cerebellar atrophy	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	377	573	607244
HP:0001272	HP:0001272	Cerebellar atrophy	0	AP4M1 CL E G H	9179	280763				ORPHA	1	311	574	602296
HP:0001272	HP:0001272	Cerebellar atrophy	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0001272	HP:0001272	Cerebellar atrophy	0	AP4S1 CL E G H	11154	280763				ORPHA	1	122	575	607243
HP:0001272	HP:0001272	Cerebellar atrophy	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATP13A2 CL E G H	23400	513436				ORPHA	1	738	30213	610513
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	738	30213	610513
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	301	816	300014
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	123	851	607027
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	271	13533	605870
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN1 CL E G H	6310	98755				ORPHA	1	86	10548	601556
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN7 CL E G H	6314	94147				ORPHA	1	42	10560	607640
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0001272	HP:0001272	Cerebellar atrophy	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0001272	HP:0001272	Cerebellar atrophy	0	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	308	16695	300398
HP:0001272	HP:0001272	Cerebellar atrophy	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	334	1020	603647
HP:0001272	HP:0001272	Cerebellar atrophy	0	BEAN1 CL E G H	146227	217012				ORPHA	1	35	24160	612051
HP:0001272	HP:0001272	Cerebellar atrophy	0	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0001272	HP:0001272	Cerebellar atrophy	0	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	960	21701	614506
HP:0001272	HP:0001272	Cerebellar atrophy	0	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2689	1388	601011
HP:0001272	HP:0001272	Cerebellar atrophy	0	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0001272	HP:0001272	Cerebellar atrophy	0	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0001272	HP:0001272	Cerebellar atrophy	0	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0001272	HP:0001272	Cerebellar atrophy	0	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	528	25523	609736
HP:0001272	HP:0001272	Cerebellar atrophy	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	110	26877	616174
HP:0001272	HP:0001272	Cerebellar atrophy	0	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	541	2079	607837
HP:0001272	HP:0001272	Cerebellar atrophy	0	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	541	2079	607837
HP:0001272	HP:0001272	Cerebellar atrophy	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	453	30664	616254
HP:0001272	HP:0001272	Cerebellar atrophy	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0001272	HP:0001272	Cerebellar atrophy	0	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	267	8011	602346
HP:0001272	HP:0001272	Cerebellar atrophy	0	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0001272	HP:0001272	Cerebellar atrophy	0	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	599	14857	606821
HP:0001272	HP:0001272	Cerebellar atrophy	0	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0001272	HP:0001272	Cerebellar atrophy	0	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	191	18623	606979
HP:0001272	HP:0001272	Cerebellar atrophy	0	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	2079	2195	120328
HP:0001272	HP:0001272	Cerebellar atrophy	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0001272	HP:0001272	Cerebellar atrophy	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	205	25223	609825
HP:0001272	HP:0001272	Cerebellar atrophy	0	COQ8A CL E G H	56997	139485				ORPHA	1	504	16812	606980
HP:0001272	HP:0001272	Cerebellar atrophy	0	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	504	16812	606980
HP:0001272	HP:0001272	Cerebellar atrophy	0	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	183	25302	612837
HP:0001272	HP:0001272	Cerebellar atrophy	0	CRAT CL E G H	1384	617917	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8	617917	CN895591	OMIM	1	132	2342	600184
HP:0001272	HP:0001272	Cerebellar atrophy	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0001272	HP:0001272	Cerebellar atrophy	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0001272	HP:0001272	Cerebellar atrophy	0	CYFIP2 CL E G H	26999	618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65	618008	CN248516	OMIM	1	416	13760	606323
HP:0001272	HP:0001272	Cerebellar atrophy	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0001272	HP:0001272	Cerebellar atrophy	0	DAB1 CL E G H	1600	615945	Spinocerebellar ataxia 37	615945	C3889636	OMIM	1	82	2661	603448
HP:0001272	HP:0001272	Cerebellar atrophy	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	74	16716	616423
HP:0001272	HP:0001272	Cerebellar atrophy	0	DNAJC3 CL E G H	5611	445062				ORPHA	1	105	9439	601184
HP:0001272	HP:0001272	Cerebellar atrophy	0	DNAJC3 CL E G H	5611	616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	616192	C4015436	OMIM	1	105	9439	601184
HP:0001272	HP:0001272	Cerebellar atrophy	0	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0001272	HP:0001272	Cerebellar atrophy	0	EEF2 CL E G H	1938	101112				ORPHA	1	204	3214	130610
HP:0001272	HP:0001272	Cerebellar atrophy	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0001272	HP:0001272	Cerebellar atrophy	0	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	1	242	14415	605512
HP:0001272	HP:0001272	Cerebellar atrophy	0	ELOVL5 CL E G H	60481	423296				ORPHA	1	63	21308	611805
HP:0001272	HP:0001272	Cerebellar atrophy	0	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	1	63	21308	611805
HP:0001272	HP:0001272	Cerebellar atrophy	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	368	3435	133510
HP:0001272	HP:0001272	Cerebellar atrophy	0	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	1170	3438	609413
HP:0001272	HP:0001272	Cerebellar atrophy	0	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	194	17097	602238
HP:0001272	HP:0001272	Cerebellar atrophy	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0001272	HP:0001272	Cerebellar atrophy	0	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0001272	HP:0001272	Cerebellar atrophy	0	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	1	312	21197	611026
HP:0001272	HP:0001272	Cerebellar atrophy	0	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	479	21062	611592
HP:0001272	HP:0001272	Cerebellar atrophy	0	FAT2 CL E G H	2196	617769	SPINOCEREBELLAR ATAXIA 45	617769	C4540400	OMIM	1	188	3596	604269
HP:0001272	HP:0001272	Cerebellar atrophy	0	FGF12 CL E G H	2257	617166	Epileptic encephalopathy, early infantile, 47	617166	C4310685	OMIM	1	210	3668	601513
HP:0001272	HP:0001272	Cerebellar atrophy	0	FKRP CL E G H	79147	370980				ORPHA	1	787	17997	606596
HP:0001272	HP:0001272	Cerebellar atrophy	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0001272	HP:0001272	Cerebellar atrophy	0	FKTN CL E G H	2218	370980				ORPHA	1	783	3622	607440
HP:0001272	HP:0001272	Cerebellar atrophy	0	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0001272	HP:0001272	Cerebellar atrophy	0	FOXRED1 CL E G H	55572	618241	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	618241		OMIM	1	255	26927	613622
HP:0001272	HP:0001272	Cerebellar atrophy	0	FRRS1L CL E G H	23732	616981	Epileptic encephalopathy, early infantile, 37	616981	C4310770	OMIM	1	341	1362	604574
HP:0001272	HP:0001272	Cerebellar atrophy	0	GBA2 CL E G H	57704	320391				ORPHA	1	277	18986	609471
HP:0001272	HP:0001272	Cerebellar atrophy	0	GBA2 CL E G H	57704	614409	Spastic paraplegia 46, autosomal recessive	614409	C2828721	OMIM	1	277	18986	609471
HP:0001272	HP:0001272	Cerebellar atrophy	0	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	353	4446	603048
HP:0001272	HP:0001272	Cerebellar atrophy	0	GRID2 CL E G H	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	616204	C4015505	OMIM	1	158	4576	602368
HP:0001272	HP:0001272	Cerebellar atrophy	0	GRM1 CL E G H	2911	617691	SPINOCEREBELLAR ATAXIA 44	617691	C4521563	OMIM	1	216	4593	604473
HP:0001272	HP:0001272	Cerebellar atrophy	0	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	216	4593	604473
HP:0001272	HP:0001272	Cerebellar atrophy	0	GRN CL E G H	2896	614706	Ceroid lipofuscinosis, neuronal, 11	614706	C3539123	OMIM	1	417	4601	138945
HP:0001272	HP:0001272	Cerebellar atrophy	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	79	4670	607434
HP:0001272	HP:0001272	Cerebellar atrophy	0	HEPACAM CL E G H	220296	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	613925	C3151355	OMIM	1	247	26361	611642
HP:0001272	HP:0001272	Cerebellar atrophy	0	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	735	4851	613004
HP:0001272	HP:0001272	Cerebellar atrophy	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	735	4851	613004
HP:0001272	HP:0001272	Cerebellar atrophy	0	IRF2BPL CL E G H	64207	618088	NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	618088	CN252701	OMIM	1	167	14282	611720
HP:0001272	HP:0001272	Cerebellar atrophy	0	ISPD CL E G H	729920	370980				ORPHA	1	647	37276	614631
HP:0001272	HP:0001272	Cerebellar atrophy	0	ITPR1 CL E G H	3708	98769				ORPHA	1	1134	6180	147265
HP:0001272	HP:0001272	Cerebellar atrophy	0	ITPR1 CL E G H	3708	208513				ORPHA	1	1134	6180	147265
HP:0001272	HP:0001272	Cerebellar atrophy	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0001272	HP:0001272	Cerebellar atrophy	0	KCNC3 CL E G H	3748	98768				ORPHA	1	216	6235	176264
HP:0001272	HP:0001272	Cerebellar atrophy	0	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	216	6235	176264
HP:0001272	HP:0001272	Cerebellar atrophy	0	KCND3 CL E G H	3752	98772				ORPHA	1	399	6239	605411
HP:0001272	HP:0001272	Cerebellar atrophy	0	KCND3 CL E G H	3752	607346	Spinocerebellar ataxia 19	607346	C1846367	OMIM	1	399	6239	605411
HP:0001272	HP:0001272	Cerebellar atrophy	0	KCNJ10 CL E G H	3766	612780	SeSAME syndrome	612780	C2748572	OMIM	1	335	6256	602208
HP:0001272	HP:0001272	Cerebellar atrophy	0	KCNMA1 CL E G H	3778	617643	CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES	617643	C4539985	OMIM	1	868	6284	600150
HP:0001272	HP:0001272	Cerebellar atrophy	0	KIF1A CL E G H	547	2836				ORPHA	1	2132	888	601255
HP:0001272	HP:0001272	Cerebellar atrophy	0	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	1	2132	888	601255
HP:0001272	HP:0001272	Cerebellar atrophy	0	KIF1A CL E G H	547	610357	Spastic paraplegia 30, autosomal recessive	610357	C1835896	OMIM	1	2132	888	601255
HP:0001272	HP:0001272	Cerebellar atrophy	0	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0001272	HP:0001272	Cerebellar atrophy	0	LAGE3 CL E G H	8270	301006	GALLOWAY-MOWAT SYNDROME 2, X-LINKED	301006	C4538784	OMIM	1	233	26058	300060
HP:0001272	HP:0001272	Cerebellar atrophy	0	LIPT1 CL E G H	51601	616299	Lipoyltransferase 1 deficiency	616299	C4225379	OMIM	1	98	29569	610284
HP:0001272	HP:0001272	Cerebellar atrophy	0	LNPK CL E G H	80856	618090	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM	618090	CN252703	OMIM	1	44	21610	610236
HP:0001272	HP:0001272	Cerebellar atrophy	0	MAG CL E G H	4099	616680	Spastic paraplegia 75, autosomal recessive	616680	C4225250	OMIM	1	171	6783	159460
HP:0001272	HP:0001272	Cerebellar atrophy	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1015	6826	609458
HP:0001272	HP:0001272	Cerebellar atrophy	0	MARS2 CL E G H	92935	611390	Ataxia, spastic, 3, autosomal recessive	611390	C1969645	OMIM	1	130	25133	609728
HP:0001272	HP:0001272	Cerebellar atrophy	0	MARS2 CL E G H	92935	616430	Combined oxidative phosphorylation deficiency 25	616430	C4225329	OMIM	1	130	25133	609728
HP:0001272	HP:0001272	Cerebellar atrophy	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	538	13356	605248
HP:0001272	HP:0001272	Cerebellar atrophy	0	MDH2 CL E G H	4191	617339	Epileptic encephalopathy, early infantile, 51	617339	C4479208	OMIM	1	463	6971	154100
HP:0001272	HP:0001272	Cerebellar atrophy	0	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	117	24858	614785
HP:0001272	HP:0001272	Cerebellar atrophy	0	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	687	28486	611124
HP:0001272	HP:0001272	Cerebellar atrophy	0	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	1	422	7154	120520
HP:0001272	HP:0001272	Cerebellar atrophy	0	MRE11 CL E G H	4361	251347				ORPHA	1	1729	7230	600814
HP:0001272	HP:0001272	Cerebellar atrophy	0	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1729	7230	600814
HP:0001272	HP:0001272	Cerebellar atrophy	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	470	7530	251170
HP:0001272	HP:0001272	Cerebellar atrophy	0	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	641	7573	160720
HP:0001272	HP:0001272	Cerebellar atrophy	0	NADK2 CL E G H	133686	431361				ORPHA	1	164	26404	615787
HP:0001272	HP:0001272	Cerebellar atrophy	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	206	26274	612803
HP:0001272	HP:0001272	Cerebellar atrophy	0	NDUFA9 CL E G H	4704	618247	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26	618247		OMIM	1	179	7693	603834
HP:0001272	HP:0001272	Cerebellar atrophy	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0001272	HP:0001272	Cerebellar atrophy	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0001272	HP:0001272	Cerebellar atrophy	0	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	172	19321	605955
HP:0001272	HP:0001272	Cerebellar atrophy	0	OPA1 CL E G H	4976	210000	Abortive cerebellar ataxia	210000	C0221061	OMIM	1	885	8140	605290
HP:0001272	HP:0001272	Cerebellar atrophy	0	OPA3 CL E G H	80207	67036				ORPHA	1	448	8142	606580
HP:0001272	HP:0001272	Cerebellar atrophy	0	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	106	18028	610107
HP:0001272	HP:0001272	Cerebellar atrophy	0	PCLO CL E G H	27445	608027	Pontocerebellar hypoplasia type 3	608027	C1842687	OMIM	1	1566	13406	604918
HP:0001272	HP:0001272	Cerebellar atrophy	0	PCNA CL E G H	5111	615919	Ataxia-telangiectasia-like disorder 2	615919	C4014676	OMIM	1	41	8729	176740
HP:0001272	HP:0001272	Cerebellar atrophy	0	PDYN CL E G H	5173	610245	Spinocerebellar ataxia 23	610245	C1853250	OMIM	1	167	8820	131340
HP:0001272	HP:0001272	Cerebellar atrophy	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	654	8851	602859
HP:0001272	HP:0001272	Cerebellar atrophy	0	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	366	9717	170993
HP:0001272	HP:0001272	Cerebellar atrophy	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	161	14938	610272
HP:0001272	HP:0001272	Cerebellar atrophy	0	PIK3R5 CL E G H	23533	615217	Ataxia-oculomotor apraxia 3	615217	C3554690	OMIM	1	48	30035	611317
HP:0001272	HP:0001272	Cerebellar atrophy	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	598	9039	603604
HP:0001272	HP:0001272	Cerebellar atrophy	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	598	9039	603604
HP:0001272	HP:0001272	Cerebellar atrophy	0	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	22	17158	615698
HP:0001272	HP:0001272	Cerebellar atrophy	0	PLK4 CL E G H	10733	616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	616171	C4015388	OMIM	1	407	11397	605031
HP:0001272	HP:0001272	Cerebellar atrophy	0	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0001272	HP:0001272	Cerebellar atrophy	0	PNKP CL E G H	11284	616267	Ataxia-oculomotor apraxia 4	616267	C4225397	OMIM	1	875	9154	605610
HP:0001272	HP:0001272	Cerebellar atrophy	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	1917	9179	174763
HP:0001272	HP:0001272	Cerebellar atrophy	0	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	785	30074	614258
HP:0001272	HP:0001272	Cerebellar atrophy	0	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	368	30348	614366
HP:0001272	HP:0001272	Cerebellar atrophy	0	POLR3B CL E G H	55703	614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	614381	C3280644	OMIM	1	368	30348	614366
HP:0001272	HP:0001272	Cerebellar atrophy	0	POMT1 CL E G H	10585	370980				ORPHA	1	737	9202	607423
HP:0001272	HP:0001272	Cerebellar atrophy	0	PPP2R2B CL E G H	5521	98762				ORPHA	1	44	9305	604325
HP:0001272	HP:0001272	Cerebellar atrophy	0	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0001272	HP:0001272	Cerebellar atrophy	0	PRKCG CL E G H	5582	605361	Spinocerebellar ataxia 14	605361	C1854369	OMIM	1	290	9402	176980
HP:0001272	HP:0001272	Cerebellar atrophy	0	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0001272	HP:0001272	Cerebellar atrophy	0	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	41	13420	617413
HP:0001272	HP:0001272	Cerebellar atrophy	0	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	41	24265	608625
HP:0001272	HP:0001272	Cerebellar atrophy	0	RARS2 CL E G H	57038	611523	Pontocerebellar hypoplasia type 6	611523	C1969084	OMIM	1	513	21406	611524
HP:0001272	HP:0001272	Cerebellar atrophy	0	REPS1 CL E G H	85021	617916	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7	617916	CN895590	OMIM	1	80	15578	614825
HP:0001272	HP:0001272	Cerebellar atrophy	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	104	18466	604123
HP:0001272	HP:0001272	Cerebellar atrophy	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	314	18518	606034
HP:0001272	HP:0001272	Cerebellar atrophy	0	RNF216 CL E G H	54476	212840	Gordon Holmes syndrome	212840	C1859305	OMIM	1	211	21698	609948
HP:0001272	HP:0001272	Cerebellar atrophy	0	RNU12 CL E G H	267010	512260				ORPHA	1	11	19380	0
HP:0001272	HP:0001272	Cerebellar atrophy	0	SACS CL E G H	26278	98				ORPHA	1	2506	10519	604490
HP:0001272	HP:0001272	Cerebellar atrophy	0	SAMD9L CL E G H	219285	2585				ORPHA	1	379	1349	611170
HP:0001272	HP:0001272	Cerebellar atrophy	0	SAMD9L CL E G H	219285	159550	Myelocerebellar disorder	159550	C1327919	OMIM	1	379	1349	611170
HP:0001272	HP:0001272	Cerebellar atrophy	0	SCARB2 CL E G H	950	254900	Epilepsy, progressive myoclonic 4, with or without renal failure	254900	C0751779	OMIM	1	422	1665	602257
HP:0001272	HP:0001272	Cerebellar atrophy	0	SCYL1 CL E G H	57410	616719	Spinocerebellar ataxia, autosomal recessive 21	616719	C4225236	OMIM	1	73	14372	607982
HP:0001272	HP:0001272	Cerebellar atrophy	0	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	390	30605	613009
HP:0001272	HP:0001272	Cerebellar atrophy	0	SERAC1 CL E G H	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	614739	C3553597	OMIM	1	312	21061	614725
HP:0001272	HP:0001272	Cerebellar atrophy	0	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	145	95	603690
HP:0001272	HP:0001272	Cerebellar atrophy	0	SLC39A8 CL E G H	64116	616721	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	616721	C4225234	OMIM	1	111	20862	608732
HP:0001272	HP:0001272	Cerebellar atrophy	0	SLC9A6 CL E G H	10479	85278				ORPHA	1	536	11079	300231
HP:0001272	HP:0001272	Cerebellar atrophy	0	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	536	11079	300231
HP:0001272	HP:0001272	Cerebellar atrophy	0	SNX14 CL E G H	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	616354	C4225355	OMIM	1	162	14977	616105
HP:0001272	HP:0001272	Cerebellar atrophy	0	SPART CL E G H	23111	275900	Troyer syndrome	275900	C0393559	OMIM	1	274	18514	607111
HP:0001272	HP:0001272	Cerebellar atrophy	0	SPG7 CL E G H	6687	99013				ORPHA	1	778	11237	602783
HP:0001272	HP:0001272	Cerebellar atrophy	0	SPG7 CL E G H	6687	607259	Spastic paraplegia 7	607259	C1846564	OMIM	1	778	11237	602783
HP:0001272	HP:0001272	Cerebellar atrophy	0	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	1807	11273	182810
HP:0001272	HP:0001272	Cerebellar atrophy	0	SPTBN2 CL E G H	6712	98766				ORPHA	1	716	11276	604985
HP:0001272	HP:0001272	Cerebellar atrophy	0	SPTBN2 CL E G H	6712	352403				ORPHA	1	716	11276	604985
HP:0001272	HP:0001272	Cerebellar atrophy	0	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	716	11276	604985
HP:0001272	HP:0001272	Cerebellar atrophy	0	SPTBN2 CL E G H	6712	615386	Spinocerebellar ataxia, autosomal recessive 14	615386	C3809327	OMIM	1	716	11276	604985
HP:0001272	HP:0001272	Cerebellar atrophy	0	STT3A CL E G H	3703	370921				ORPHA	1	199	6172	601134
HP:0001272	HP:0001272	Cerebellar atrophy	0	STT3A CL E G H	3703	615596	Congenital disorder of glycosylation type 1w	615596	C3810062	OMIM	1	199	6172	601134
HP:0001272	HP:0001272	Cerebellar atrophy	0	STT3B CL E G H	201595	370924				ORPHA	1	129	30611	608605
HP:0001272	HP:0001272	Cerebellar atrophy	0	STT3B CL E G H	201595	615597	Congenital disorder of glycosylation type 1x	615597	C2931007	OMIM	1	129	30611	608605
HP:0001272	HP:0001272	Cerebellar atrophy	0	STUB1 CL E G H	10273	412057				ORPHA	1	170	11427	607207
HP:0001272	HP:0001272	Cerebellar atrophy	0	STUB1 CL E G H	10273	618093	SPINOCEREBELLAR ATAXIA 48	618093		OMIM	1	170	11427	607207
HP:0001272	HP:0001272	Cerebellar atrophy	0	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	1	170	11427	607207
HP:0001272	HP:0001272	Cerebellar atrophy	0	SUMF1 CL E G H	285362	272200	Multiple sulfatase deficiency	272200	C0268263	OMIM	1	564	20376	607939
HP:0001272	HP:0001272	Cerebellar atrophy	0	SYNE1 CL E G H	23345	610743	Spinocerebellar ataxia, autosomal recessive 8	610743	C1853116	OMIM	1	4598	17089	608441
HP:0001272	HP:0001272	Cerebellar atrophy	0	SYT14 CL E G H	255928	284271				ORPHA	1	92	23143	610949
HP:0001272	HP:0001272	Cerebellar atrophy	0	SYT14 CL E G H	255928	614229	Spinocerebellar ataxia, autosomal recessive 11	614229	C3280226	OMIM	1	92	23143	610949
HP:0001272	HP:0001272	Cerebellar atrophy	0	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	154	16133	611663
HP:0001272	HP:0001272	Cerebellar atrophy	0	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	445	11581	604649
HP:0001272	HP:0001272	Cerebellar atrophy	0	TBCE CL E G H	6905	496756				ORPHA	1	357	11582	604934
HP:0001272	HP:0001272	Cerebellar atrophy	0	TBCE CL E G H	6905	617207	Encephalopathy, progressive, with amyotrophy and optic atrophy	617207	C4310667	OMIM	1	357	11582	604934
HP:0001272	HP:0001272	Cerebellar atrophy	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	116	11588	600075
HP:0001272	HP:0001272	Cerebellar atrophy	0	TGM6 CL E G H	343641	276193				ORPHA	1	289	16255	613900
HP:0001272	HP:0001272	Cerebellar atrophy	0	TGM6 CL E G H	343641	613908	Spinocerebellar ataxia 35	613908	C3888031	OMIM	1	289	16255	613900
HP:0001272	HP:0001272	Cerebellar atrophy	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	192	25186	616101
HP:0001272	HP:0001272	Cerebellar atrophy	0	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	199	11992	601243
HP:0001272	HP:0001272	Cerebellar atrophy	0	TPP1 CL E G H	1200	284324				ORPHA	1	849	2073	607998
HP:0001272	HP:0001272	Cerebellar atrophy	0	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	849	2073	607998
HP:0001272	HP:0001272	Cerebellar atrophy	0	TRAPPC6B CL E G H	122553	617862	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY	617862	CN787271	OMIM	1	55	23066	610397
HP:0001272	HP:0001272	Cerebellar atrophy	0	TRPC3 CL E G H	7222	616410	Spinocerebellar ataxia 41	616410	C4225158	OMIM	1	44	12335	602345
HP:0001272	HP:0001272	Cerebellar atrophy	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	239	28422	608753
HP:0001272	HP:0001272	Cerebellar atrophy	0	TTBK2 CL E G H	146057	604432	Spinocerebellar ataxia 11	604432	C1858351	OMIM	1	234	19141	611695
HP:0001272	HP:0001272	Cerebellar atrophy	0	TTC19 CL E G H	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	615157	C3554605	OMIM	1	263	26006	613814
HP:0001272	HP:0001272	Cerebellar atrophy	0	TUBB4A CL E G H	10382	612438	Leukodystrophy, hypomyelinating, 6	612438	C2676244	OMIM	1	219	20774	602662
HP:0001272	HP:0001272	Cerebellar atrophy	0	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	308	1160	606075
HP:0001272	HP:0001272	Cerebellar atrophy	0	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	50	17772	609063
HP:0001272	HP:0001272	Cerebellar atrophy	0	UBA5 CL E G H	79876	617132	Epileptic encephalopathy, early infantile, 44	617132	C4310700	OMIM	1	157	23230	610552
HP:0001272	HP:0001272	Cerebellar atrophy	0	UBA5 CL E G H	79876	617133	Spinocerebellar ataxia, autosomal recessive 24	617133	C4310699	OMIM	1	157	23230	610552
HP:0001272	HP:0001272	Cerebellar atrophy	0	UBTF CL E G H	7343	617672	NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY	617672	C4540086	OMIM	1	55	12511	600673
HP:0001272	HP:0001272	Cerebellar atrophy	0	UCHL1 CL E G H	7345	615491	Spastic paraplegia 79, autosomal recessive	615491	C3809665	OMIM	1	111	12513	191342
HP:0001272	HP:0001272	Cerebellar atrophy	0	UFM1 CL E G H	51569	617899	LEUKODYSTROPHY, HYPOMYELINATING, 14	617899	CN845004	OMIM	1	65	20597	610553
HP:0001272	HP:0001272	Cerebellar atrophy	0	VARS CL E G H	7407	617802	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	617802	C4540493	OMIM	1		12651	192150
HP:0001272	HP:0001272	Cerebellar atrophy	0	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	507	12698	192977
HP:0001272	HP:0001272	Cerebellar atrophy	0	VPS11 CL E G H	55823	616683	Leukodystrophy, hypomyelinating, 12	616683	C4225247	OMIM	1	139	14583	608549
HP:0001272	HP:0001272	Cerebellar atrophy	0	VPS53 CL E G H	55275	615851	Pontocerebellar hypoplasia, type 2e	615851	C4014488	OMIM	1	315	25608	615850
HP:0001272	HP:0001272	Cerebellar atrophy	0	VWA3B CL E G H	200403	616948	Spinocerebellar ataxia, autosomal recessive 22	616948	C4310781	OMIM	1	63	28385	614884
HP:0001272	HP:0001272	Cerebellar atrophy	0	WARS2 CL E G H	10352	617710	NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES	617710	C4540192	OMIM	1	80	12730	604733
HP:0001272	HP:0001272	Cerebellar atrophy	0	WDR45 CL E G H	11152	329284				ORPHA	1	504	28912	300526
HP:0001272	HP:0001272	Cerebellar atrophy	0	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	504	28912	300526
HP:0001272	HP:0001272	Cerebellar atrophy	0	WDR81 CL E G H	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	610185	C2750234	OMIM	1	266	26600	614218
HP:0001272	HP:0001272	Cerebellar atrophy	0	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	1	967	12799	605131
HP:0001272	HP:0001272	Cerebellar atrophy	0	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	52	12828	194360
HP:0001272	HP:0001272	Cerebellar atrophy	0	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	1	90	12872	600470
HP:0001272	HP:0001272	Cerebellar atrophy	0	ZNF335 CL E G H	63925	615095	Primary autosomal recessive microcephaly 10	615095	C3554499	OMIM	1	311	15807	610827
HP:0001272	HP:0001272	Cerebellar atrophy	0	ZNHIT3 CL E G H	9326	2836				ORPHA	1	110	12309	604500
HP:0001272	HP:0001272	Cerebellar atrophy	0	ZNHIT3 CL E G H	9326	260565	PEHO syndrome	260565	C1850055	OMIM	1	110	12309	604500
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	507	118	100850
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	507	118	100850
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	507	118	100850
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	507	118	100850
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	507	118	100850
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	507	118	100850
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	507	118	100850
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	94	177	104620
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	94	177	104620
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	94	177	104620
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	94	177	104620
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	94	177	104620
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	94	177	104620
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	94	177	104620
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	639	291	608222
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	639	291	608222
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	639	291	608222
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	639	291	608222
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	639	291	608222
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	639	291	608222
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	639	291	608222
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	385	315	604581
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	385	315	604581
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	385	315	604581
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	385	315	604581
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	385	315	604581
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	385	315	604581
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	385	315	604581
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	385	315	604581
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	385	315	604581
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	385	315	604581
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	385	315	604581
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	385	315	604581
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	385	315	604581
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	385	315	604581
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	66	17258	606830
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	66	17258	606830
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	66	17258	606830
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	66	17258	606830
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	66	17258	606830
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	66	17258	606830
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	66	17258	606830
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	125	20609	600859
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	125	20609	600859
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	125	20609	600859
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	125	20609	600859
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	125	20609	600859
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	125	20609	600859
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	125	20609	600859
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	179	23056	608750
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	179	23056	608750
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	179	23056	608750
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	179	23056	608750
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	179	23056	608750
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	179	23056	608750
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	179	23056	608750
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	236	15672	606941
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	236	15672	606941
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	236	15672	606941
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	236	15672	606941
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	236	15672	606941
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	236	15672	606941
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	236	15672	606941
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	240	25519	613726
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AP4B1 CL E G H	10717	280763				ORPHA	1	300	572	607245
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AP4B1 CL E G H	10717	280763				ORPHA	1	300	572	607245
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AP4B1 CL E G H	10717	280763				ORPHA	1	300	572	607245
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AP4B1 CL E G H	10717	280763				ORPHA	1	300	572	607245
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AP4B1 CL E G H	10717	280763				ORPHA	1	300	572	607245
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AP4B1 CL E G H	10717	280763				ORPHA	1	300	572	607245
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AP4B1 CL E G H	10717	280763				ORPHA	1	300	572	607245
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AP4E1 CL E G H	23431	280763				ORPHA	1	377	573	607244
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AP4E1 CL E G H	23431	280763				ORPHA	1	377	573	607244
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AP4E1 CL E G H	23431	280763				ORPHA	1	377	573	607244
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AP4E1 CL E G H	23431	280763				ORPHA	1	377	573	607244
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AP4E1 CL E G H	23431	280763				ORPHA	1	377	573	607244
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AP4E1 CL E G H	23431	280763				ORPHA	1	377	573	607244
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AP4E1 CL E G H	23431	280763				ORPHA	1	377	573	607244
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	377	573	607244
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	377	573	607244
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	377	573	607244
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	377	573	607244
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	377	573	607244
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	377	573	607244
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	377	573	607244
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AP4M1 CL E G H	9179	280763				ORPHA	1	311	574	602296
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AP4M1 CL E G H	9179	280763				ORPHA	1	311	574	602296
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AP4M1 CL E G H	9179	280763				ORPHA	1	311	574	602296
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AP4M1 CL E G H	9179	280763				ORPHA	1	311	574	602296
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AP4M1 CL E G H	9179	280763				ORPHA	1	311	574	602296
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AP4M1 CL E G H	9179	280763				ORPHA	1	311	574	602296
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AP4M1 CL E G H	9179	280763				ORPHA	1	311	574	602296
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	AP4S1 CL E G H	11154	280763				ORPHA	1	122	575	607243
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	AP4S1 CL E G H	11154	280763				ORPHA	1	122	575	607243
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	AP4S1 CL E G H	11154	280763				ORPHA	1	122	575	607243
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	AP4S1 CL E G H	11154	280763				ORPHA	1	122	575	607243
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	AP4S1 CL E G H	11154	280763				ORPHA	1	122	575	607243
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	AP4S1 CL E G H	11154	280763				ORPHA	1	122	575	607243
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	AP4S1 CL E G H	11154	280763				ORPHA	1	122	575	607243
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATP13A2 CL E G H	23400	513436				ORPHA	1	738	30213	610513
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATP13A2 CL E G H	23400	513436				ORPHA	1	738	30213	610513
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATP13A2 CL E G H	23400	513436				ORPHA	1	738	30213	610513
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATP13A2 CL E G H	23400	513436				ORPHA	1	738	30213	610513
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATP13A2 CL E G H	23400	513436				ORPHA	1	738	30213	610513
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATP13A2 CL E G H	23400	513436				ORPHA	1	738	30213	610513
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATP13A2 CL E G H	23400	513436				ORPHA	1	738	30213	610513
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	738	30213	610513
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	738	30213	610513
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	738	30213	610513
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	738	30213	610513
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	738	30213	610513
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	738	30213	610513
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	738	30213	610513
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	301	816	300014
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	301	816	300014
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	301	816	300014
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	301	816	300014
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	301	816	300014
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	301	816	300014
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	301	816	300014
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	123	851	607027
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	123	851	607027
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	123	851	607027
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	123	851	607027
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	123	851	607027
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	123	851	607027
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	123	851	607027
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	271	13533	605870
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	271	13533	605870
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	271	13533	605870
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	271	13533	605870
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	271	13533	605870
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	271	13533	605870
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	271	13533	605870
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN1 CL E G H	6310	98755				ORPHA	1	86	10548	601556
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN1 CL E G H	6310	98755				ORPHA	1	86	10548	601556
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN1 CL E G H	6310	98755				ORPHA	1	86	10548	601556
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN1 CL E G H	6310	98755				ORPHA	1	86	10548	601556
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN1 CL E G H	6310	98755				ORPHA	1	86	10548	601556
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN1 CL E G H	6310	98755				ORPHA	1	86	10548	601556
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN1 CL E G H	6310	98755				ORPHA	1	86	10548	601556
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN7 CL E G H	6314	94147				ORPHA	1	42	10560	607640
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN7 CL E G H	6314	94147				ORPHA	1	42	10560	607640
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN7 CL E G H	6314	94147				ORPHA	1	42	10560	607640
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN7 CL E G H	6314	94147				ORPHA	1	42	10560	607640
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN7 CL E G H	6314	94147				ORPHA	1	42	10560	607640
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN7 CL E G H	6314	94147				ORPHA	1	42	10560	607640
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN7 CL E G H	6314	94147				ORPHA	1	42	10560	607640
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	308	16695	300398
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	308	16695	300398
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	308	16695	300398
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	308	16695	300398
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	308	16695	300398
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	308	16695	300398
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	308	16695	300398
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	334	1020	603647
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	334	1020	603647
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	334	1020	603647
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	334	1020	603647
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	334	1020	603647
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	334	1020	603647
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	334	1020	603647
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	BEAN1 CL E G H	146227	217012				ORPHA	1	35	24160	612051
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	BEAN1 CL E G H	146227	217012				ORPHA	1	35	24160	612051
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	BEAN1 CL E G H	146227	217012				ORPHA	1	35	24160	612051
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	BEAN1 CL E G H	146227	217012				ORPHA	1	35	24160	612051
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	BEAN1 CL E G H	146227	217012				ORPHA	1	35	24160	612051
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	BEAN1 CL E G H	146227	217012				ORPHA	1	35	24160	612051
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	BEAN1 CL E G H	146227	217012				ORPHA	1	35	24160	612051
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	960	21701	614506
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	960	21701	614506
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	960	21701	614506
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	960	21701	614506
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	960	21701	614506
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	960	21701	614506
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	960	21701	614506
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2689	1388	601011
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2689	1388	601011
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2689	1388	601011
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2689	1388	601011
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2689	1388	601011
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2689	1388	601011
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2689	1388	601011
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	528	25523	609736
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	528	25523	609736
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	528	25523	609736
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	528	25523	609736
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	528	25523	609736
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	528	25523	609736
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	528	25523	609736
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	110	26877	616174
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	110	26877	616174
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	110	26877	616174
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	110	26877	616174
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	110	26877	616174
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	110	26877	616174
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	110	26877	616174
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	541	2079	607837
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	541	2079	607837
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	541	2079	607837
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	541	2079	607837
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	541	2079	607837
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	541	2079	607837
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	541	2079	607837
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	541	2079	607837
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	541	2079	607837
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	541	2079	607837
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	541	2079	607837
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	541	2079	607837
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	541	2079	607837
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	541	2079	607837
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	453	30664	616254
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	453	30664	616254
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	453	30664	616254
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	453	30664	616254
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	453	30664	616254
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	453	30664	616254
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	453	30664	616254
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	267	8011	602346
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	267	8011	602346
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	267	8011	602346
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	267	8011	602346
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	267	8011	602346
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	267	8011	602346
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	267	8011	602346
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	599	14857	606821
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	599	14857	606821
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	599	14857	606821
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	599	14857	606821
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	599	14857	606821
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	599	14857	606821
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	599	14857	606821
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	191	18623	606979
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	191	18623	606979
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	191	18623	606979
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	191	18623	606979
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	191	18623	606979
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	191	18623	606979
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	191	18623	606979
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	2079	2195	120328
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	2079	2195	120328
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	2079	2195	120328
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	2079	2195	120328
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	2079	2195	120328
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	2079	2195	120328
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	2079	2195	120328
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	205	25223	609825
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	205	25223	609825
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	205	25223	609825
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	205	25223	609825
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	205	25223	609825
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	205	25223	609825
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	205	25223	609825
HP:0001272	HP:0006855	Cerebellar vermis atrophy	1	COQ8A CL E G H	56997	139485				ORPHA	1	504	16812	606980
HP:0001272	HP:0100275	Diffuse cerebellar atrophy	1	COQ8A CL E G H	56997	139485				ORPHA	1	504	16812	606980
HP:0001272	HP:0006879	Pontocerebellar atrophy	1	COQ8A CL E G H	56997	139485				ORPHA	1	504	16812	606980
HP:0001272	HP:0012082	Cerebellar Purkinje layer atrophy	1	COQ8A CL E G H	56997	139485				ORPHA	1	504	16812	606980
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	COQ8A CL E G H	56997	139485				ORPHA	1	504	16812	606980
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	COQ8A CL E G H	56997	139485				ORPHA	1	504	16812	606980
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	COQ8A CL E G H	56997	139485				ORPHA	1	504	16812	606980
HP:0001272	HP:0012080	Cerebellar granular layer atrophy	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	504	16812	606980
HP:0001272	HP:0008278	Cerebellar cortical atrophy	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	504	16812	606980
HP:0001272	HP:0007263	Spinocerebellar atrophy	1	COQ8A CL E</