Parent term(s)
autosomal genetic disease
+
blood coagulation disease
+
Term with siblings
autosomal hemophilia A
acquired von Willebrand syndrome
Aicardi-Goutieres syndrome
autosomal dominant disease
+
autosomal recessive disease
+
Bernard-Soulier syndrome
+
blepharophimosis, ptosis, and epicanthus inversus syndrome
blood platelet disease
+
camptodactyly-tall stature-scoliosis-hearing loss syndrome
chromosome 1q41-q42 deletion syndrome
combined oxidative phosphorylation deficiency 55
congenital afibrinogenemia
congenital nystagmus 1
distal arthrogryposis type 1C
dopamine transporter deficiency syndrome
+
exudative vitreoretinopathy 4
factor V deficiency
factor VII deficiency
factor VIII deficiency
factor X deficiency
factor XI deficiency
factor XI deficiency
factor XII deficiency
factor XIII deficiency
familial adenomatous polyposis
+
familial Mediterranean fever
focal segmental glomerulosclerosis 3
Gillespie syndrome
glucose transporter type 1 deficiency syndrome
+
hemophilia B
hemorrhagic disease
+
hereditary combined deficiency of vitamin K-dependent clotting factors
+
hereditary desmoid disease
hereditary spastic paraplegia 30
high molecular weight kininogen deficiency
hypophosphatasia
+
McCune Albright syndrome
neurodevelopmental disorder with hypotonia and speech delay
retinitis pigmentosa 86
Robinow syndrome
+
Scott syndrome
septooptic dysplasia
Sotos syndrome
+
spondylocostal dysostosis 5
syndromic microphthalmia 12
syndromic microphthalmia 14
syndromic microphthalmia 8
thrombophilia
+
thrombophilia due to thrombomodulin defect
tubulinopathy
von Willebrand's disease
+
Weill-Marchesani syndrome
Child term(s)
denotes an 'is-a' relationship