• GARD:8585 (MONDO:GARD)
• MESH:C535572 (Orphanet:1517/e)
• SCTID:239087008 (MONDO:equivalentTo)
• MEDGEN:208647 (MONDO:equivalentTo)
• OMIM:239850 (Orphanet:1517/e)
• DOID:0060569 (MONDO:equivalentTo)
• UMLS:C0795905 (MONDO:equivalentTo)
• Orphanet:1517 (OMIM:239850)

matrix_llm__is_cancer_other, gard_rare, ordo_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, rare, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, mondo_top_grouping_syndromic_disease, 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, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, ordo_malformation_syndrome, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

• [X] hereditary disease
• [X] syndromic disease
• [X] multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
• [X] osteochondrodysplasia
• has material basis in germline mutation in some ABCC9
• disease has feature some [X] hypertrichosis
• disease has feature some Hypertrichosis