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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | piebaldism | |
| Synonyms |
Partial albinism PIEBALD TRAIT |
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| Definitions |
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 the KIT gene on chromosome 4q12. This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012). |
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| ID |
http://purl.obolibrary.org/obo/DOID_3263 |
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| comment |
This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012).
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| alternative label |
Partial albinism PIEBALD TRAIT
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:718122005 MESH:D016116 ICD10CM:E70.39 OMIM:172800 UMLS_CUI:C0080024 GARD:4344 NCI:C85009 ORDO:2884
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|
| 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 the KIT gene on chromosome 4q12. This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012).
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| has exact synonym |
Partial albinism PIEBALD TRAIT
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:3263
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| in_subset | ||
| label |
piebaldism
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|
| notation |
DOID:3263
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|
| note |
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 the KIT gene on chromosome 4q12. This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012).
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| preferred label |
piebaldism
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| prefLabel |
piebaldism
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| subClassOf |
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