| | Disease name | Disease category |
| MGORS1 | H01889 | Meier-Gorlin syndrome | Congenital malformation |
| MGORS2 | H01889 | Meier-Gorlin syndrome | Congenital malformation |
| MGORS3 | H01889 | Meier-Gorlin syndrome | Congenital malformation |
| MGORS5 | H01889 | Meier-Gorlin syndrome | Congenital malformation |
| MGORS4 | H01889 | Meier-Gorlin syndrome | Congenital malformation |
| DNFA70 | H00604 | Deafness, autosomal dominant | Nervous system disease |
| IMD54 | H00094 | Immunodeficiency associated with DNA repair defects | Primary immunodeficiency |
| MGORS8 | H01889 | Meier-Gorlin syndrome | Congenital malformation |
| MGORS7 | H01889 | Meier-Gorlin syndrome | Congenital malformation |
| CILD42 | H00564 | Primary ciliary dyskinesia | Respiratory system disease |
| MGORS6 | H01889 | Meier-Gorlin syndrome | Congenital malformation |
| RAPADILINO/RTS2/BGS | H00965 | RAPADILINO syndrome | Congenital malformation |
| H01734 | Rothmund-Thomson syndrome | Congenital malformation |
| H01993 | Baller-Gerold syndrome | Congenital malformation |
| IMAGEI/FILIS | H02369 | IMAGE-I syndrome | Congenital malformation |
| H02370 | FILS syndrome | Congenital malformation |
| IMD55 | H00093 | Combined immunodeficiency | Primary immunodeficiency |
| IMD80 | H02525 | Disorders of innate immunity | Immune system disease |
| VEODS/XLPDR | H00658 | X-linked syndromic intellectual developmental disorder | Mental and behavioural disorder |
| H02484 | X-linked reticulate pigmentary disorder with systemic manifestations | Immune system disease |
| PDIL | H02625 | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome | Congenital malformation |
| PFBMFT6 | H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Hematologic disease |
| CANVAS | H02366 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | Nervous system disease |
| MRMNS | H02840 | Morimoto-Ryu-Malicdan neuromuscular syndrome | Nervous system disease |
| ATLD2 | H02014 | Ataxia-telangiectasia-like syndrome | Immune system disease |
| MDPL | H01623 | MDPL syndrome | Congenital malformation |
| SCKL8/PEOA6 | H00992 | Seckel syndrome | Congenital malformation |
| H01118 | Progressive external ophthalmoplegia | Nervous system disease |
| AGS4 | H00290 | Aicardi-Goutieres syndrome | Immune system disease |
| AGS2 | H00290 | Aicardi-Goutieres syndrome | Immune system disease |
| AGS3 | H00290 | Aicardi-Goutieres syndrome | Immune system disease |
| LIG1 | H00094 | Immunodeficiency associated with DNA repair defects | Primary immunodeficiency |
| SCKL9 | H00992 | Seckel syndrome | Congenital malformation |
| IBMPFD1/FTDALS6/CMT2Y | H02031 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | Nervous system disease |
| H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Nervous system disease |
| H00264 | Charcot-Marie-Tooth disease | Neurodegenerative disease |