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Mondo Disease Ontology
| Preferred Name | piebaldism | |
| Synonyms |
PBT partial albinism piebald trait piebaldism |
|
| Definitions |
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008244 |
|
| database_cross_reference |
MESH:D016116 OMIM:172800 NCIT:C85009 UMLS:C0080024 GARD:4344 ICD9:270.2 DOID:3263 Orphanet:2884 icd11.foundation:2089421143 ICD10CM:E70.3 MEDGEN:36361 SCTID:6479008
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|
| definition |
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
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|
| has_exact_synonym |
partial albinism piebald trait piebaldism
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|
| has_related_synonym |
PBT
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|
| id |
MONDO:0008244
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
piebaldism
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|
| notation |
MONDO:0008244
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|
| prefLabel |
piebaldism
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|
| seeAlso | ||
| skos_exactMatch |
http://identifiers.org/mesh/D016116 http://linkedlifedata.com/resource/umls/id/C0080024 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2089421143 http://purl.obolibrary.org/obo/NCIT_C85009 http://identifiers.org/snomedct/6479008 http://purl.obolibrary.org/obo/Orphanet_2884 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0019290 |
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| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0019290 |
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