syndromic disease ermine phenotype https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype https://www.malacards.org/card/ermine_phenotype MONDO:0009196 pigmentary disorder with hearing loss black locks, oculocutaneous albinism, and deafness of the sensorineural type black locks with albinism and deafness syndrome UMLS:C1856899 Orphanet:999 O'Doherty syndrome icd11.foundation:2048725507 A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging. BADS MESH:C535508 ermine phenotype MEDGEN:346466 MESH:C562663 OMIM:227010 SCTID:10170007 GARD:0000407 ICD9:270.2 BADS syndrome