| | Disease name | Disease category |
MEVA/POROK3 | H00206 | Mevalonate kinase deficiency | Inherited metabolic disorder |
| H01933 | Porokeratosis | Congenital malformation |
POROK1 | H01933 | Porokeratosis | Congenital malformation |
POROK7 | H01933 | Porokeratosis | Congenital malformation |
POROK9 | H01933 | Porokeratosis | Congenital malformation |
APMR4 | H02303 | Alopecia-mental retardation syndrome | Congenital malformation |
GRBGD | H00447 | HEM skeletal dysplasia | Congenital malformation |
MCCPD | H02132 | Microcephaly syndrome | Congenital malformation |
CHILD/CKS | H00496 | Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) | Congenital malformation |
| H01917 | CK syndrome | Congenital malformation |
Desmosterolosis | H00617 | Desmosterolosis | Inherited metabolic disorder |
CDPX2/MEND | H01194 | X-linked chondrodysplasia punctata | Congenital malformation |
| H02248 | MEND syndrome | Congenital malformation |
LATHOS | H01281 | Lathosterolosis | Inherited metabolic disorder |
SLOS | H00161 | Smith-Lemli-Opitz syndrome | Inherited metabolic disorder |
VDDR1B | H01143 | Vitamin D-dependent rickets | Inherited metabolic disorder |
VDDR1A | H01143 | Vitamin D-dependent rickets | Inherited metabolic disorder |