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:0002453	HP:0002453	Abnormal globus pallidus morphology	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040283 - Occasional	18
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency		82
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040282 - Frequent	528
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration		55
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent	42
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0002453	HP:0002453	Abnormal globus pallidus morphology	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0002453	HP:0031627	Globus pallidus calcification	1	CL E G H
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0002453	HP:0007132	Pallidal degeneration	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0002453	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002453	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0002453	HP:0007132	Pallidal degeneration	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0002453	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0002453	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0002453	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29