Parent term(s)
autosomal genetic disease
+
distal arthrogryposis type 1
+
Term with siblings
distal arthrogryposis type 1C
Aicardi-Goutieres syndrome
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
combined oxidative phosphorylation deficiency 55
congenital nystagmus 1
distal arthrogryposis type 1A
distal arthrogryposis type 1B
dopamine transporter deficiency syndrome
+
exudative vitreoretinopathy 4
factor XI deficiency
familial adenomatous polyposis
+
familial Mediterranean fever
focal segmental glomerulosclerosis 3
Gillespie syndrome
hereditary desmoid disease
hereditary spastic paraplegia 30
hypophosphatasia
+
McCune Albright syndrome
neurodevelopmental disorder with hypotonia and speech delay
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
Child term(s)
denotes an 'is-a' relationship