loading...| Preferred Name |
Clouston syndrome |
|
| Synonyms |
Clouston syndrome hidrotic ectodermal dysplasia Clouston's syndrome hidrotic ectodermal dysplasia syndrome Clouston's hidrotic ectodermal dysplasia ectodermal dysplasia 2, Clouston type ectodermal dysplasia, hidrotic, 2 hidrotic ectodermal dysplasia, autosomal dominant ectodermal dysplasia, hidrotic, autosomal dominant ectodermal dysplasia, hidrotic, 2, formerly autosomal dominant hidrotic ectodermal dysplasia Clouston hidrotic ectodermal dysplasia Patel Bixler syndrome alopecia, dysplastic nails, palmar and plantar hyperkeratosis palmoplantar hyperkeratosis and alopecia ectodermal dysplasia, hidrotic ED2 |
|
| Definitions |
Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007510 |
|
| database_cross_reference |
SCTID:54209007 Orphanet:189 OMIM:129500 DOID:14693 GARD:2056 |
|
| definition |
Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_14693 |
|
| has_exact_synonym |
Clouston syndrome hidrotic ectodermal dysplasia Clouston's syndrome hidrotic ectodermal dysplasia syndrome Clouston's hidrotic ectodermal dysplasia |
|
| has_related_synonym |
ectodermal dysplasia 2, Clouston type ectodermal dysplasia, hidrotic, 2 hidrotic ectodermal dysplasia, autosomal dominant ectodermal dysplasia, hidrotic, autosomal dominant ectodermal dysplasia, hidrotic, 2, formerly autosomal dominant hidrotic ectodermal dysplasia Clouston hidrotic ectodermal dysplasia Patel Bixler syndrome alopecia, dysplastic nails, palmar and plantar hyperkeratosis palmoplantar hyperkeratosis and alopecia ectodermal dysplasia, hidrotic ED2 |
|
| id |
MONDO:0007510 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#do_inheritance_inconsistent http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
Clouston syndrome |
|
| notation |
MONDO:0007510 |
|
| prefLabel |
Clouston syndrome |
|
| subClassOf |