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