Preferred Name |
piebaldism |
|
Synonyms |
Partial albinism |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively. |
|
ID |
http://purl.obolibrary.org/obo/DOID_3263 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
MESH:D016116 SNOMEDCT_US_2020_03_01:718122005 ICD10CM:E70.39 OMIM:172800 UMLS_CUI:C0080024 GARD:4344 NCI:C85009 ORDO:2884 |
|
has exact synonym |
Partial albinism PIEBALD TRAIT |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:3263 |
|
imported from | ||
in_subset | ||
label |
piebaldism |
|
notation |
DOID:3263 |
|
prefLabel |
piebaldism |
|
textual definition |
An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively. |
|
subClassOf |
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