loading...| Preferred Name |
ectodermal dysplasia syndrome |
|
| Synonyms |
congenital ectodermal defect ectodermal dysplasia ectodermal dysplasia (select examples) |
|
| Definitions |
The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019287 |
|
| database_cross_reference |
NCIT:C84683 COHD:134757 Orphanet:79373 DOID:2121 SCTID:8654005 UMLS:C0013575 GARD:0006317 MedDRA:10010452 MESH:D004476 OMIMPS:305100 ICD9:757.31 |
|
| disease_has_basis_in_development_of | ||
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C84683 http://identifiers.org/meddra/10010452 http://linkedlifedata.com/resource/umls/id/C0013575 http://identifiers.org/snomedct/8654005 http://identifiers.org/mesh/D004476 |
|
| has exact synonym |
congenital ectodermal defect ectodermal dysplasia ectodermal dysplasia (select examples) |
|
| id |
MONDO:0019287 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
ectodermal dysplasia syndrome |
|
| notation |
MONDO:0019287 |
|
| prefLabel |
ectodermal dysplasia syndrome |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual definition |
The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021026 |