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:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 241 | 560 | 300629 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 376 | 13875 | 605317 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0002134 | Abnormality of the basal ganglia | 0 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0100248 | Hemiballismus | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0025012 | Status cribrosum | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0002135 | Basal ganglia calcification | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0002453 | Abnormal globus pallidus morphology | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0012128 | Basal ganglia necrosis | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0025102 | Dysgenesis of the basal ganglia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0012697 | Small basal ganglia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0045007 | Abnormal substantia nigra morphology | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0025039 | Basal ganglia edema | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0010994 | Abnormal corpus striatum morphology | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0200147 | Neuronal loss in basal ganglia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0006799 | Basal ganglia cysts | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0007007 | Cavitation of the basal ganglia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0007048 | Large basal ganglia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0007039 | Symmetric lesions of the basal ganglia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0006999 | Basal ganglia gliosis | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0007146 | Bilateral basal ganglia lesions | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0031982 | Abnormal putamen morphology | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0012677 | Iron accumulation in globus pallidus | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0002339 | Abnormal caudate nucleus morphology | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0031206 | Striatal T2 hyperintensity | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0040140 | Degeneration of the striatum | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0011960 | Substantia nigra gliosis | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0031627 | Globus pallidus calcification | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0012753 | T2 hypointense basal ganglia | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0002454 | Eye of the tiger anomaly of globus pallidus | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0012678 | Iron accumulation in substantia nigra | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0007132 | Pallidal degeneration | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0012644 | Increased caudate lactate level | 3 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0007374 | Atrophy/Degeneration involving the caudate nucleus | 3 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0041052 | Agenesis of putamen | 3 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | AUH CL E G H | 549 | 67046 | | | | ORPHA | 0 | | 249 | 890 | 600529 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002134 | HP:0002340 | Caudate atrophy | 4 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 0 | | 191 | 9449 | 176640 |