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:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	HP:0040282 - Frequent	1
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	.	411
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5		55
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0007103	HP:0007103	Hypointensity of cerebral white matter on MRI	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0007103	HP:0040333	Confluent hypointensity of cerebral white matter on MRI	1	CL E G H
HP:0007103	HP:0040332	Multifocal hypointensity of cerebral white matter on MRI	1	CL E G H
HP:0007103	HP:0012794	Periventricular white matter hypodensities	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0007103	HP:0007321	Deep white matter hypodensities	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent	43
HP:0007103	HP:0007321	Deep white matter hypodensities	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.	55
HP:0007103	HP:0007321	Deep white matter hypodensities	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56
HP:0007103	HP:0040331	Focal hypointensity of cerebral white matter on MRI	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0007103	HP:0040331	Focal hypointensity of cerebral white matter on MRI	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0007103	HP:0040331	Focal hypointensity of cerebral white matter on MRI	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362