Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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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 |