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:0012762	HP:0012762	Cerebral white matter atrophy	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent	48
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4		24
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040283 - Occasional	11
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional	8
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69		11
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease		141
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form		94
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome		5
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional	10
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040284 - Very rare	16
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form		214
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent	37
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent	27
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0012762	HP:0012762	Cerebral white matter atrophy	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012762	HP:0007371	Corpus callosum atrophy	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0012762	HP:0007371	Corpus callosum atrophy	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0012762	HP:0007371	Corpus callosum atrophy	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0012762	HP:0007371	Corpus callosum atrophy	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0012762	HP:0007371	Corpus callosum atrophy	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0012762	HP:0007371	Corpus callosum atrophy	1	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4	.	24
HP:0012762	HP:0007371	Corpus callosum atrophy	1	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional	8
HP:0012762	HP:0007371	Corpus callosum atrophy	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.	11
HP:0012762	HP:0007371	Corpus callosum atrophy	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040281 - Very frequent	141
HP:0012762	HP:0007371	Corpus callosum atrophy	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012762	HP:0007371	Corpus callosum atrophy	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0012762	HP:0007371	Corpus callosum atrophy	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0012762	HP:0007371	Corpus callosum atrophy	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0012762	HP:0007371	Corpus callosum atrophy	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040281 - Very frequent	5
HP:0012762	HP:0007371	Corpus callosum atrophy	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0012762	HP:0007371	Corpus callosum atrophy	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0012762	HP:0007371	Corpus callosum atrophy	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040282 - Frequent	30
HP:0012762	HP:0007371	Corpus callosum atrophy	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0012762	HP:0007371	Corpus callosum atrophy	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0012762	HP:0007371	Corpus callosum atrophy	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0012762	HP:0007371	Corpus callosum atrophy	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0012762	HP:0007371	Corpus callosum atrophy	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0012762	HP:0007371	Corpus callosum atrophy	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0012762	HP:0007371	Corpus callosum atrophy	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0012762	HP:0007371	Corpus callosum atrophy	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0012762	HP:0007371	Corpus callosum atrophy	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012762	HP:0007371	Corpus callosum atrophy	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0012762	HP:0007371	Corpus callosum atrophy	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0012762	HP:0007371	Corpus callosum atrophy	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012762	HP:0007371	Corpus callosum atrophy	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0012762	HP:0007371	Corpus callosum atrophy	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012762	HP:0007371	Corpus callosum atrophy	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29