has material basis in germline mutation in ITCH syndromic intellectual disability hereditary disease intestinal disorder respiratory system disorder syndromic multisystem autoimmune disease due to ITCH deficiency https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency https://www.malacards.org/card/autoimmune_disease_multisystem_with_facial_dysmorphism https://www.malacards.org/card/syndromic_multisystem_autoimmune_disease_due_to_itch_deficiency MEDGEN:461999 icd11.foundation:1970749000 NANDO:2200739 ITCH E3 ubiquitin ligase deficiency OMIM:613385 GARD:0010775 Orphanet:228426 ADMFD MONDO:0013245 autoimmune disease, multisystem, with facial dysmorphism syndromic multisystem autoimmune disease due to ITCH deficiency UMLS:C3150649 autoimmune disease, syndromic multisystem syndromic multisystem autoimmune disease multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete intractable diarrhea of infancy autoimmune enteropathy