loading...| Preferred Name | ectodermal dysplasia syndrome | |
| Synonyms |
ectodermal dysplasia (select examples) ectodermal dysplasia congenital ectodermal defect |
|
| 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 |
ICD9:757.31 MESH:D004476 UMLS:C0013575 MEDGEN:8544 Orphanet:79373 SCTID:8654005 NCIT:C84683 MedDRA:10010452 OMIMPS:305100 icd11.foundation:1156567558 DOID:2121 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. |
|
| disease_has_basis_in_development_of | ||
| has_exact_synonym |
ectodermal dysplasia (select examples) ectodermal dysplasia congenital ectodermal defect |
|
| id |
MONDO:0019287 |
|
| 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#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
ectodermal dysplasia syndrome |
|
| notation |
MONDO:0019287 |
|
| preferred label |
ectodermal dysplasia syndrome |
|
| prefLabel |
ectodermal dysplasia syndrome |
|
| 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 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100118 |