Giant melanosomes in melanocytes

Symptom Information:

Symptom ID: HPO:0005592
Synonyms:
Macromelanosomes [HPO:0005592]
Giant melanosomes in melanocytes [OMIM:Giant melanosomes in melanocytes]
Macromelanosomes [OMIM:Macromelanosomes]
Quality:
Cross references:
OMIM: "Giant melanosomes in melanocytes" [OMIM:Giant melanosomes in melanocytes]
OMIM: "Macromelanosomes" [OMIM:Macromelanosomes]
Is a (Direct Parents):
HPO         Abnormality of dermal melanosomes
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the integument(HPO:0001574)
          Abnormality of the skin(HPO:0000951)
             Generalized abnormality of skin(HPO:0011354)
                Abnormality of skin morphology(HPO:0011121)
                   Abnormality of skin pigmentation(HPO:0001000)
                      Abnormality of dermal melanosomes(HPO:0011125)
                         Giant melanosomes in melanocytes(HPO:0005592)
MedDRA:
Database Frequency: 4 / 7739
Resource:

All diseases associated with this symptom:

Chédiak-Higashi syndrome (Orphanet:167)
Ocular albinism with congenital sensorineural deafness (Orphanet:352740)
Ocular albinism with late-onset sensorineural deafness (Orphanet:1000)
X-linked recessive ocular albinism (Orphanet:54)