Xanthelasma

Symptom Information:

Symptom ID: HPO:0001114
Synonyms:
Xanthoma [HPO:0001114]
Xanthelasma [OMIM:Xanthelasma]
Xanthelasmata [OMIM:Xanthelasmata]
Xanthoma [OMIM:Xanthoma]
Xanthomas [OMIM:Xanthomas]
Xanthomas (in some patients) [OMIM:Xanthomas (in some patients)]
Quality:
Cross references:
OMIM: "Xanthelasma" [OMIM:Xanthelasma]
OMIM: "Xanthelasmata" [OMIM:Xanthelasmata]
OMIM: "Xanthoma" [OMIM:Xanthoma]
OMIM: "Xanthomas" [OMIM:Xanthomas]
OMIM: "Xanthomas (in some patients)" [OMIM:Xanthomas (in some patients)]
UMLS:C0302314 "Xanthoma" [HPO:0001114]
Is a (Direct Parents):
HPO         Xanthomatosis
HPO         Cyst of the eyelid
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormality of the periorbital region(HPO:0000606)
                   Abnormality of the eyelid(HPO:0000492)
                      Nodular changes affecting the eyelids(HPO:0010732)
                         Cyst of the eyelid(HPO:0010604)
                            Xanthelasma(HPO:0001114)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of the eyelid(HPO:0000492)
                      Nodular changes affecting the eyelids(HPO:0010732)
                         Cyst of the eyelid(HPO:0010604)
                            Xanthelasma(HPO:0001114)
       Abnormality of the integument(HPO:0001574)
          Abnormality of the skin(HPO:0000951)
             Localized skin lesion(HPO:0011355)
                Epidermoid cyst(HPO:0200040)
                   Cyst of the eyelid(HPO:0010604)
                      Xanthelasma(HPO:0001114)
                Skin nodule(HPO:0200036)
                   Nodular changes affecting the eyelids(HPO:0010732)
                      Cyst of the eyelid(HPO:0010604)
                         Xanthelasma(HPO:0001114)
                Xanthomatosis(HPO:0000991)
                   Xanthelasma(HPO:0001114)
MedDRA:
Database Frequency: 13 / 7739
Resource:

All diseases associated with this symptom:

Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Ataxia with vitamin E deficiency (Orphanet:96)
Cerebrotendinous xanthomatosis (Orphanet:909)
Familial LCAT deficiency (Orphanet:79293)
GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Glycogen storage disease due to glucose-6-phosphatase deficiency type a (Orphanet:79258)
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B (OMIM:144010)
HYPERCHOLESTEROLEMIA, FAMILIAL (OMIM:143890)
HYPERLIPIDEMIA, FAMILIAL COMBINED (OMIM:144250)
LCAT deficiency (Orphanet:650)
Niemann-Pick disease type A (Orphanet:77292)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)