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 Orphanet:79373 MEDGEN:8544 DOID:2121 SCTID:8654005 UMLS:C0013575 MedDRA:10010452 icd11.foundation:1156567558 MESH:D004476 OMIMPS:305100 ICD9:757.31 GARD:6317 |
|
| 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. |
|
| has_exact_synonym |
congenital ectodermal defect ectodermal dysplasia ectodermal dysplasia (select examples) |
|
| id |
MONDO:0019287 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| 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 |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C84683 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1156567558 http://purl.obolibrary.org/obo/Orphanet_79373 http://linkedlifedata.com/resource/umls/id/C0013575 http://identifiers.org/snomedct/8654005 http://identifiers.org/mesh/D004476 http://purl.obolibrary.org/obo/DOID_2121 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0100118 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100118 |