Rare Disease Library

CADDS

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

CADINS disease

CARD11-associated atopy with dominant interference of NF-kB signaling syndrome

Caffey disease

Infantile cortical hyperostosis

Calcifying aponeurotic fibroma

Juvenile aponeurotic fibromatosis · Keasby tumor

Calciphylaxis

Calciphylaxis cutis

Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy

Mild calf-predominant myopathy

Calpain-3-related limb-girdle muscular dystrophy D4

LGMD1I · Limb-girdle muscular dystrophy type D4

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

Calvarial doughnut lesions-bone fragility syndrome

Familial doughnut lesions of skull

CAMFAK syndrome

CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome

CAMOS syndrome

Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome · SCAR5

Campomelia, Cumming type

Cumming syndrome

Campomelic dysplasia

Campomelic dwarfism

Campomelic dysplasia and related disorders

Bent bone dysplasia

Camptobrachydactyly

Camptodactyly of fingers

Camptodactyly syndrome, Guadalajara type 1

Camptodactyly syndrome, Guadalajara type 2

Camptodactyly syndrome, Guadalajara type 3

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

Goodman camptodactyly

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Camptodactyly-tall stature-scoliosis-deafness syndrome · CATSHL syndrome

Camptodactyly-taurinuria syndrome

Familial streblodactyly with amino-aciduria

Camurati-Engelmann disease

Progressive diaphyseal dysplasia

Cancer of unknown primary site

Carcinoma of unknown primary · CUP

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

CANDLE syndrome

Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome

CANOMAD syndrome

Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome · Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies

Cantú syndrome

Hypertrichotic osteochondrodysplasia · Congenital hypertrichosis-coarse facial features spectrum

Cap myopathy

Cap disease

Cap polyposis

Cap inflammatory polyposis · Eroded polypoid hyperplasia

Capillary malformation-arteriovenous malformation

CM-AVM

Capillary-lymphatic-venous malformation with segmental distribution

CLVM with segmental distribution · Klippel-Trénaunay syndrome

CAR T cell therapy-associated cytokine release syndrome

CAR T cell therapy-associated CRS · Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Carcinoid syndrome

Malignant carcinoid syndrome

Carcinoma of esophagus

Esophageal carcinoma

Carcinoma of esophagus, salivary gland type

Esophageal carcinoma, salivary gland type

Carcinoma of gallbladder and extrahepatic biliary tract

Carcinoma of gallbladder and EBT

Carcinoma of liver and intrahepatic biliary tract

Carcinoma of liver and IBT

Carcinoma of the ampulla of Vater

Ampullary carcinoma · Ampulloma

Carcinoma of the anal canal

Carcinosarcoma of the cervix uteri

Cervical malignant Müllerian mixed tumor · Cervical carcinosarcoma

Carcinosarcoma of the corpus uteri

Mixed Müllerian cancer of corpus uteri · Uterine carcinosarcoma

Cardiac anomalies-heterotaxy syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome