Rare Disease Library

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Glossopalatine ankylosis

Cosack syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Isolated congenital onychodysplasia

COIF · COIF syndrome

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

May-Thurner syndrome

MTS · Cockett syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oligocone trichromacy

Oligocone syndrome

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Progressive non-infectious anterior vertebral fusion

PAVF · Copenhagen syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4