autosomal genetic disease +
autoimmune disease +

Aicardi-Goutieres syndrome
antisynthetase syndrome
autoimmune disease of blood +
autoimmune disease of cardiovascular system +
autoimmune disease of endocrine system +
autoimmune disease of exocrine system +
autoimmune disease of gastrointestinal tract +
autoimmune disease of musculoskeletal system +
autoimmune disease of the nervous system +
autoimmune disease of urogenital tract +
autoimmune interstitial lung, joint, and kidney disease
autosomal dominant disease +
autosomal hemophilia A
autosomal recessive disease +
blepharophimosis, ptosis, and epicanthus inversus syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
chromosome 1q41-q42 deletion syndrome
CINCA Syndrome
combined oxidative phosphorylation deficiency 55
common variable immunodeficiency +
congenital nystagmus 1
distal arthrogryposis type 1C
dopamine transporter deficiency syndrome +
exudative vitreoretinopathy 4
factor XI deficiency
familial adenomatous polyposis +
Felty's syndrome
focal segmental glomerulosclerosis 3
Gillespie syndrome
glucose transporter type 1 deficiency syndrome +
hereditary desmoid disease
hereditary spastic paraplegia 30
hypophosphatasia +
IgG4-related disease
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Jaccoud's syndrome
McCune Albright syndrome
Mikulicz disease
neurodevelopmental disorder with hypotonia and speech delay
PFAPA syndrome
retinitis pigmentosa 86
Robinow syndrome +
septooptic dysplasia
Sotos syndrome +
spondylocostal dysostosis 5
syndromic microphthalmia 12
syndromic microphthalmia 14
syndromic microphthalmia 8
thrombophilia due to thrombomodulin defect
tubulinopathy
Weill-Marchesani syndrome