Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | | | | 216 | | |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | | | | 141 | | |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | | | | 143 | | |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:601780 | Ceroid lipofuscinosis, neuronal, 6 | | | | 143 | | |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:600143 | Ceroid lipofuscinosis, neuronal, 8 | | | | 111 | | |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | | | | 111 | | |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040281 - Very frequent | | | 111 | | |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | | | | 155 | | |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | | | | 106 | | |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | | | | 82 | | |
HP:0003204 | HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:204500 | Ceroid lipofuscinosis, neuronal, 2 | | | | 203 | | |
HP:0003204 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0003204 | HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0003204 | HP:0003226 | Rectilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | . | | | 141 | | |
HP:0003204 | HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | . | | | 141 | | |
HP:0003204 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | . | | | 141 | | |
HP:0003204 | HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0003204 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0003204 | HP:0003226 | Rectilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0003204 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN6 CL E G H | 54982 | 2077 | OMIM:601780 | Ceroid lipofuscinosis, neuronal, 6 | . | | | 143 | | |
HP:0003204 | HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN6 CL E G H | 54982 | 2077 | OMIM:601780 | Ceroid lipofuscinosis, neuronal, 6 | . | | | 143 | | |
HP:0003204 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN8 CL E G H | 2055 | 2079 | OMIM:600143 | Ceroid lipofuscinosis, neuronal, 8 | . | | | 111 | | |
HP:0003204 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN8 CL E G H | 2055 | 2079 | OMIM:610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | . | | | 111 | | |
HP:0003204 | HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0003204 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0003204 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0003204 | HP:0003226 | Rectilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0003204 | HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 1 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0003204 | HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 1 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | . | | | 106 | | |
HP:0003204 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | | | | 82 | | |
HP:0003204 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 1 | TPP1 CL E G H | 1200 | 2073 | OMIM:204500 | Ceroid lipofuscinosis, neuronal, 2 | . | | | 203 | | |
HP:0003204 | HP:0006916 | Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material | 2 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | . | | | 82 | | |