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Mondo Disease Ontology
| Preferred Name | dyschromatosis universalis hereditaria | |
| Synonyms |
DUH dyschromatosis universalis |
|
| Definitions |
A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0000736 |
|
| database_cross_reference |
GARD:1996 Orphanet:241 UMLS:C2930995 MESH:C535730 DOID:0060304 MEDGEN:419691 OMIMPS:127500 NCIT:C173131 SCTID:239082002
|
|
| definition |
A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
|
|
| has_exact_synonym |
dyschromatosis universalis
|
|
| has_related_synonym |
DUH
|
|
| id |
MONDO:0000736
|
|
| 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 |
dyschromatosis universalis hereditaria
|
|
| notation |
MONDO:0000736
|
|
| prefLabel |
dyschromatosis universalis hereditaria
|
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| skos_exactMatch |
https://omim.org/phenotypicSeries/PS127500 http://linkedlifedata.com/resource/umls/id/C2930995 http://purl.obolibrary.org/obo/DOID_0060304 http://purl.obolibrary.org/obo/NCIT_C173131 http://identifiers.org/mesh/C535730 http://purl.obolibrary.org/obo/Orphanet_241 |
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| subClassOf |
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