| | 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 |
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 |