loading...| Preferred Name |
pilodental dysplasia-refractive errors syndrome |
| Synonyms |
PILODENTAL dysplasia with refractive errors Trichodental dysplasia with hyperopia Euhidrotic ectodermal dysplasia Kopysc-Barczyk-Krol syndrome |
| Definitions |
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0009873 |
| database_cross_reference |
MESH:C535763 GARD:0000277 OMIM:262020 Orphanet:2892 UMLS:C1849805 |
| definition |
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. |
| exactMatch |
http://identifiers.org/mesh/C535763 |
| has_exact_synonym |
Euhidrotic ectodermal dysplasia Kopysc-Barczyk-Krol syndrome |
| has_related_synonym |
PILODENTAL dysplasia with refractive errors Trichodental dysplasia with hyperopia |
| id |
MONDO:0009873 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
pilodental dysplasia-refractive errors syndrome |
| notation |
MONDO:0009873 |
| prefLabel |
pilodental dysplasia-refractive errors syndrome |
| treeView | |
| subClassOf |