has material basis in germline mutation in disease has feature disease has major feature ALMS1 Retinal dystrophy Blindness Insulin resistance Dilated cardiomyopathy Abnormal renal physiology syndromic disease diabetes mellitus kidney disorder ciliopathy autosomal recessive disease Alstrom syndrome https://github.com/monarch-initiative/mondo/issues/324 https://www.malacards.org/card/alstrom_syndrome ALSS Alstrom's syndrome Alström syndrome DOID:0050473 NORD:757 GARD:0005787 SCTID:63702009 MedDRA:10068783 MEDGEN:78675 MONDO:0008763 A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. UMLS:C0268425 ALMS Orphanet:64 MESH:D056769 Alstrom syndrome NCIT:C84549 Alström Syndrome ICD9:759.89 OMIM:203800 inherited renal tubular disease obsolete syndrome associated with dilated cardiomyopathy obsolete syndromic retinitis pigmentosa