Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0011400	HP:0011400	Abnormal CNS myelination	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0011400	Abnormal CNS myelination	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0011400	Abnormal CNS myelination	0	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0011400	Abnormal CNS myelination	0	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0011400	Abnormal CNS myelination	0	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0002415	Leukodystrophy	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0003429	CNS hypomyelination	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0002188	Delayed CNS myelination	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0012754	CNS hypermyelination	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0007305	CNS demyelination	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0007266	Cerebral dysmyelination	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0007305	CNS demyelination	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0007266	Cerebral dysmyelination	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0003429	CNS hypomyelination	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0002415	Leukodystrophy	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0012754	CNS hypermyelination	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0002188	Delayed CNS myelination	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0007266	Cerebral dysmyelination	1	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0002415	Leukodystrophy	1	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0003429	CNS hypomyelination	1	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0002188	Delayed CNS myelination	1	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0012754	CNS hypermyelination	1	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0007305	CNS demyelination	1	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0003429	CNS hypomyelination	1	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0002415	Leukodystrophy	1	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0012754	CNS hypermyelination	1	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0002188	Delayed CNS myelination	1	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0007305	CNS demyelination	1	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0007266	Cerebral dysmyelination	1	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0007305	CNS demyelination	1	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0007266	Cerebral dysmyelination	1	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0003429	CNS hypomyelination	1	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0002415	Leukodystrophy	1	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0012754	CNS hypermyelination	1	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0002188	Delayed CNS myelination	1	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0003269	Sudanophilic leukodystrophy	2	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0002545	Patchy demyelination of subcortical white matter	2	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0006926	Metachromatic leukodystrophy variant	2	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0007162	Diffuse demyelination of the cerebral white matter	2	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0006978	Dysmyelinating leukodystrophy	2	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0008311	Spinal cord posterior columns myelin loss	2	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0033846	Spinal hypomyelination	2	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0033369	Cavitating leukodystrophy	2	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0007258	Severe demyelination of the white matter	2	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0006808	Cerebral hypomyelination	2	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0011400	HP:0033846	Spinal hypomyelination	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0006978	Dysmyelinating leukodystrophy	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0008311	Spinal cord posterior columns myelin loss	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0006808	Cerebral hypomyelination	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0033369	Cavitating leukodystrophy	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0007258	Severe demyelination of the white matter	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0003269	Sudanophilic leukodystrophy	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0002545	Patchy demyelination of subcortical white matter	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0006926	Metachromatic leukodystrophy variant	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0007162	Diffuse demyelination of the cerebral white matter	2	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0011400	HP:0006808	Cerebral hypomyelination	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0033369	Cavitating leukodystrophy	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0007258	Severe demyelination of the white matter	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0003269	Sudanophilic leukodystrophy	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0002545	Patchy demyelination of subcortical white matter	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0006926	Metachromatic leukodystrophy variant	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0007162	Diffuse demyelination of the cerebral white matter	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0033846	Spinal hypomyelination	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0006978	Dysmyelinating leukodystrophy	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0008311	Spinal cord posterior columns myelin loss	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0011400	HP:0002545	Patchy demyelination of subcortical white matter	2	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0003269	Sudanophilic leukodystrophy	2	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0007162	Diffuse demyelination of the cerebral white matter	2	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0006926	Metachromatic leukodystrophy variant	2	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0008311	Spinal cord posterior columns myelin loss	2	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0033846	Spinal hypomyelination	2	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0006978	Dysmyelinating leukodystrophy	2	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0007258	Severe demyelination of the white matter	2	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0006808	Cerebral hypomyelination	2	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0033369	Cavitating leukodystrophy	2	KIDINS220 CL E G H	57498	521390				ORPHA	1	617	29508	615759
HP:0011400	HP:0006978	Dysmyelinating leukodystrophy	2	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0008311	Spinal cord posterior columns myelin loss	2	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0033846	Spinal hypomyelination	2	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0007258	Severe demyelination of the white matter	2	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0006808	Cerebral hypomyelination	2	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0033369	Cavitating leukodystrophy	2	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0003269	Sudanophilic leukodystrophy	2	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0002545	Patchy demyelination of subcortical white matter	2	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0006926	Metachromatic leukodystrophy variant	2	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HP:0011400	HP:0007162	Diffuse demyelination of the cerebral white matter	2	SHPK CL E G H	23729	440713				ORPHA	1	232	1492	605060
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011400	HP:0011400	Abnormal CNS myelination	0	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0011400	Abnormal CNS myelination	0	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0007266	Cerebral dysmyelination	1	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0003429	CNS hypomyelination	1	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0002415	Leukodystrophy	1	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0012754	CNS hypermyelination	1	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0002188	Delayed CNS myelination	1	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0007305	CNS demyelination	1	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0012754	CNS hypermyelination	1	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0002188	Delayed CNS myelination	1	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0007305	CNS demyelination	1	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0007266	Cerebral dysmyelination	1	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0002415	Leukodystrophy	1	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0003429	CNS hypomyelination	1	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0007258	Severe demyelination of the white matter	2	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0006808	Cerebral hypomyelination	2	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0033369	Cavitating leukodystrophy	2	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0003269	Sudanophilic leukodystrophy	2	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0002545	Patchy demyelination of subcortical white matter	2	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0006926	Metachromatic leukodystrophy variant	2	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0007162	Diffuse demyelination of the cerebral white matter	2	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0008311	Spinal cord posterior columns myelin loss	2	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0033846	Spinal hypomyelination	2	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0006978	Dysmyelinating leukodystrophy	2	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	0	109	18062	138210
HP:0011400	HP:0006926	Metachromatic leukodystrophy variant	2	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0007162	Diffuse demyelination of the cerebral white matter	2	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0006978	Dysmyelinating leukodystrophy	2	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0008311	Spinal cord posterior columns myelin loss	2	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0033846	Spinal hypomyelination	2	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0033369	Cavitating leukodystrophy	2	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0007258	Severe demyelination of the white matter	2	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0006808	Cerebral hypomyelination	2	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0003269	Sudanophilic leukodystrophy	2	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0011400	HP:0002545	Patchy demyelination of subcortical white matter	2	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944