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[X] ectodermal dysplasia syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0019287

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. [ Orphanet:79373 ]

Synonyms: ectodermal dysplasia ectodermal dysplasia (select examples) congenital ectodermal defect

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:6317 (MONDO:GARD)
  • MESH:D004476 (Orphanet:79373/e)
  • DOID:2121 (MONDO:equivalentTo)
  • UMLS:C0013575 (MONDO:equivalentTo)
  • OMIMPS:305100 (MONDO:equivalentTo)
  • SCTID:8654005 (MONDO:equivalentTo)
  • ICD9:757.31 (MONDO:i2s)
  • icd11.foundation:1156567558 (https://orcid.org/0000-0001-5208-3432)
  • MEDGEN:8544 (MONDO:equivalentTo)
  • MedDRA:10010452 (Orphanet:79373/e)
  • Orphanet:79373 (MONDO:equivalentTo)
  • NCIT:C84683 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_excluded, matrix_llm__tag_qualy_lost_other, disease_grouping, mondo_top_grouping_integumentary_system_disorder, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, nord_rare, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, ordo_group_of_disorders, mondo_top_grouping_syndromic_disease, harrisons_view_integumentary_system_disorder

closeMatch

http://identifiers.org/meddra/10010452

exactMatch

http://linkedlifedata.com/resource/umls/id/C0013575

http://identifiers.org/snomedct/8654005

http://identifiers.org/medgen/8544

http://identifiers.org/mesh/D004476

https://omim.org/phenotypicSeries/PS305100

http://www.orpha.net/ORDO/Orphanet_79373

http://purl.obolibrary.org/obo/DOID_2121

http://purl.obolibrary.org/obo/NCIT_C84683

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1156567558

id

MONDO:0019287

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml