Rare Disease Library

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

DDX41-related hematologic malignancy predisposition syndrome

Dentin dysplasia

DD

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type

DDEB, Cockayne-Touraine type

Autosomal dominant dystrophic epidermolysis bullosa, Pasini type

DDEB, Pasini type

Dedifferentiated liposarcoma

DDLS

Dentin dysplasia type I

DD-I · DTDP1

Dentin dysplasia type II

DD-II · DTDP2

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Adducted thumbs-arthrogryposis syndrome, Christian type

Adenocarcinoma of the gallbladder and extrahepatic biliary tract

Adenocarcinoma of the gallbladder and EBT

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

CMT2DD · ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2

Braddock syndrome

Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency

Braddock-Carey syndrome

Thrombocytopenia-Robin sequence syndrome

Budd-Chiari syndrome

BCS

CADDS

Contiguous ABCD1 DXS1357E deletion syndrome · Zellweger-like contiguous gene deletion syndrome

Carcinoma of gallbladder and extrahepatic biliary tract

Carcinoma of gallbladder and EBT

Classic bladder exstrophy

Classic exstrophy of the bladder

FADD-related immunodeficiency

Gallbladder neuroendocrine tumor

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

Isolated agenesis of gallbladder

Isolated congenital cholesteatoma of the middle ear

CCME · Congenital middle ear cholesteatoma

Isolated gallbladder duplication

Ledderhose disease

Plantar fibromatosis

Liddle syndrome

Pseudoaldosteronism

MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome

Middle and/or inner ear anomaly

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

Middle ear neuroendocrine tumor

OBSOLETE: DDX59-related orofaciodigital syndrome

Rare tumor of gallbladder and extrahepatic biliary tract

Rare tumor of gallbladder and EBT

Renal-genital-middle ear anomalies

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

Small cell carcinoma of the bladder

Poorly differentiated neuroendocrine carcinoma of the bladder · SCCB

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

Squamous cell carcinoma of gallbladder and extrahepatic biliary tract

Squamous cell carcinoma of gallblader and EBT

Straddling and/or overriding mitral valve

Straddling or overriding tricuspid valve

Sudden infant death-dysgenesis of the testes syndrome

SIDDT

Sudden sensorineural hearing loss

Secondary acute sensorineural hearing loss