Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent	60
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis		100
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation		145
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome		12
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional	2
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent	96
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy		31
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy		65
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	PDE10A CL E G H	10846	8772	ORPHA:494541	Childhood-onset benign chorea with striatal involvement	HP:0040282 - Frequent	5
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2		5
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant		75
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent	60
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy		57
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy		40
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy		73
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation		39
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1		64
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0010994	HP:0040140	Degeneration of the striatum	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	116
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040283 - Occasional	100
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0010994	HP:0040140	Degeneration of the striatum	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0010994	HP:0040140	Degeneration of the striatum	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0010994	HP:0040140	Degeneration of the striatum	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional	143
HP:0010994	HP:0031982	Abnormal putamen morphology	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0010994	HP:0031982	Abnormal putamen morphology	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0010994	HP:0040140	Degeneration of the striatum	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome		12
HP:0010994	HP:0040140	Degeneration of the striatum	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	28
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2		2
HP:0010994	HP:0040140	Degeneration of the striatum	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0010994	HP:0031206	Striatal T2 hyperintensity	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0010994	HP:0031206	Striatal T2 hyperintensity	1	PDE10A CL E G H	10846	8772	ORPHA:494541	Childhood-onset benign chorea with striatal involvement	HP:0040282 - Frequent	5
HP:0010994	HP:0040140	Degeneration of the striatum	1	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.	75
HP:0010994	HP:0031982	Abnormal putamen morphology	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent	57
HP:0010994	HP:0040140	Degeneration of the striatum	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	33
HP:0010994	HP:0040140	Degeneration of the striatum	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	34
HP:0010994	HP:0040140	Degeneration of the striatum	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	60
HP:0010994	HP:0040140	Degeneration of the striatum	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0010994	HP:0040140	Degeneration of the striatum	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	55
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0010994	HP:0040140	Degeneration of the striatum	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0010994	HP:0040140	Degeneration of the striatum	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	56
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0010994	HP:0031982	Abnormal putamen morphology	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1		64
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1		64
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0010994	HP:0031982	Abnormal putamen morphology	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0010994	HP:0012644	Increased caudate lactate level	2	CL E G H
HP:0010994	HP:0041052	Agenesis of putamen	2	CL E G H
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome		12
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2		2
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0010994	HP:0034180	Fusion of the caudate and putamen	2	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1		64
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0010994	HP:0002340	Caudate atrophy	3	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional	105
HP:0010994	HP:0002340	Caudate atrophy	3	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional	143
HP:0010994	HP:0002340	Caudate atrophy	3	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional	33
HP:0010994	HP:0002340	Caudate atrophy	3	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0010994	HP:0002340	Caudate atrophy	3	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	HP:0040284 - Very rare	12
HP:0010994	HP:0002340	Caudate atrophy	3	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional	2
HP:0010994	HP:0002340	Caudate atrophy	3	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0010994	HP:0002340	Caudate atrophy	3	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0010994	HP:0002340	Caudate atrophy	3	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0010994	HP:0002340	Caudate atrophy	3	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0010994	HP:0002340	Caudate atrophy	3	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional	15
HP:0010994	HP:0002340	Caudate atrophy	3	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0010994	HP:0002340	Caudate atrophy	3	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0010994	HP:0002340	Caudate atrophy	3	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0010994	HP:0002340	Caudate atrophy	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130