Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA COL11A2 Unknown Orphanet
COL2A1 Unknown Orphanet
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY PIGC Unknown Disgenet Orphanet
AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA COL11A2 Unknown Orphanet