| Human Phenotype
Ontology
|
Grandparent Node:
 Abnormal cellular physiology (HP:0011017) | Parent Node:
Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) | ..Starting node
..Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)
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| Term ID: |
3205 |
| Name: |
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
| Synonym: |
Curvilinear profiles ultrastructurally; Curvilinear profiles ultrastructurally in cells; Intracellular curvilinear profiles on ultrastructural analysis |
| Definition: |
An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. |
| Comments: |
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| Reference: |
HP:0003205 |
| Genes and Diseases: | |
Child Nodes: | ........Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material (HP:0006916)
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Sister Nodes: | ..Fingerprint intracellular accumulation of autofluorescent lipopigment storage material (HP:0003208)
| ..Rectilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003226)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0003205 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | | | HP:0003205 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | . | | | 141 | | | | HP:0003205 | HP:0003205 | Curvilinear 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:0003205 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:601780 | Ceroid lipofuscinosis, neuronal, 6 | . | | | 143 | | | | HP:0003205 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:600143 | Ceroid lipofuscinosis, neuronal, 8 | . | | | 111 | | | | HP:0003205 | HP:0003205 | Curvilinear 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:0003205 | HP:0003205 | Curvilinear 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:0040282 - Frequent | | | 111 | | | | HP:0003205 | HP:0003205 | Curvilinear 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:0003205 | HP:0003205 | Curvilinear 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:0003205 | HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:204500 | Ceroid lipofuscinosis, neuronal, 2 | . | | | 203 | | | | HP:0003205 | HP:0006916 | Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material | 1 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | . | | | 82 | | |
Genes (7) :CLN3 CLN5 CLN6 CLN8 DNAJC5 NDRG1 TPP1
Diseases (10) :OMIM:204200 OMIM:256731 OMIM:204300 OMIM:601780 OMIM:600143 OMIM:610003 ORPHA:1947 OMIM:162350 OMIM:601455 OMIM:204500 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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