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:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	116
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	28
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent	1
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	33
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	34
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	60
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	55
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040283 - Occasional	88
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0007052	HP:0007052	Multifocal cerebral white matter abnormalities	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	56
HP:0007052	HP:0040332	Multifocal hypointensity of cerebral white matter on MRI	1	CL E G H
HP:0007052	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0007052	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040281 - Very frequent	144
HP:0007052	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1