Curvilinear intracellular accumulation of autofluorescent lipopigment storage material

Symptom Information:

Symptom ID: HPO:0003205
Synonyms:
'curvilinear profiles' ultrastructurally [HPO:0003205]
'Curvilinear profiles' ultrastructurally in cells [HPO:0003205]
Curvilinear profiles ultrastructurally [HPO:0003205]
Intracellular curvilinear profiles on ultrastructural analysis [HPO:0003205]
'Curvilinear profiles' ultrastructurally [OMIM:'Curvilinear profiles' ultrastructurally]
'Curvilinear profiles' ultrastructurally in cells [OMIM:'Curvilinear profiles' ultrastructurally in cells]
Intracellular curvilinear profiles on ultrastructural analysis [OMIM:Intracellular curvilinear profiles on ultrastructural analysis]
'Curvilinear' profiles ultrastructurally [OMIM:'Curvilinear' profiles ultrastructurally]
Quality:
Cross references:
OMIM: "'Curvilinear profiles' ultrastructurally" [OMIM:'Curvilinear profiles' ultrastructurally]
OMIM: "'Curvilinear profiles' ultrastructurally in cells" [OMIM:'Curvilinear profiles' ultrastructurally in cells]
OMIM: "Intracellular curvilinear profiles on ultrastructural analysis" [OMIM:Intracellular curvilinear profiles on ultrastructural analysis]
OMIM: "'Curvilinear' profiles ultrastructurally" [OMIM:'Curvilinear' profiles ultrastructurally]
Is a (Direct Parents):
HPO         Intracellular accumulation of autofluorescent lipopigment storage material
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of cell physiology(HPO:0011017)
             Intracellular accumulation of autofluorescent lipopigment storage material(HPO:0003204)
                Curvilinear intracellular accumulation of autofluorescent lipopigment storage material(HPO:0003205)
MedDRA:
Database Frequency: 10 / 7739
Resource:

All diseases associated with this symptom:

CLN2 disease (Orphanet:228349)
CLN3 disease (Orphanet:228346)
CLN4A disease (Orphanet:228340)
CLN4B disease (Orphanet:228343)
CLN5 disease (Orphanet:228360)
CLN6 disease (Orphanet:228363)
CLN8 disease (Orphanet:228354)
CLN9 disease (Orphanet:228357)
Late infantile neuronal ceroid lipofuscinosis (Orphanet:168491)
Progressive epilepsy-intellectual deficit, Finnish type (Orphanet:1947)