JSON

autosomal dominant epidermolytic ichthyosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0020702

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:1200611 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:2200988 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:312 (MONDO:equivalentTo)
  • NCIT:C62569 (MONDO:equivalentTo)
  • GARD:1039 (MONDO:GARD)
Subsets

ordo_disorder, matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, mondo_top_grouping_integumentary_system_disorder, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_included, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, orphanet_rare, harrisons_view_integumentary_system_disorder

conformsTo

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

exactMatch

http://www.orpha.net/ORDO/Orphanet_312

http://purl.obolibrary.org/obo/NCIT_C62569

id

MONDO:0020702

term tracker item

https://github.com/monarch-initiative/mondo/issues/7141

https://github.com/monarch-initiative/mondo/issues/7238