• MEDGEN:98037 (MONDO:equivalentTo)
• UMLS:C0406778 (MONDO:equivalentTo)
• SCTID:239088003 (MONDO:equivalentTo)
• MESH:C535374 (Orphanet:86920/e)
• DOID:0111342 (MONDO:equivalentTo)
• OMIM:125595 (Orphanet:86920/e)
• Orphanet:86920 (OMIM:125595)
• GARD:8550 (MONDO:GARD)

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

• [X] hyperpigmentation of the skin
• [X] ectodermal dysplasia syndrome
• [X] diffuse palmoplantar keratoderma
• has material basis in germline mutation in some KRT14