Rare Disease Library

Cogan-Reese syndrome

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

CHOPS syndrome

Cohen syndrome

Cohen-Gibson syndrome

EED-related overgrowth syndrome

COL4A1 or COL4A2-related cerebral small vessel disease

COL4A1 or COL4A2-related cerebral angiopathy

COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency

COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency

COL4A1/2-related familial vascular leukoencephalopathy

COL4A-related brain small vessel disease with hemorrhage · COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome

Colchicine poisoning

Cold agglutinin disease

CAD · CAS

Cold-induced sweating syndrome

CISS

Cold-induced sweating syndrome-hyperthermia spectrum

Cole-Carpenter syndrome

Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome

Collagen type III glomerulopathy

Collagenofibrotic glomerulopathy

Collagen VI-related congenital muscular dystrophy

COL6-RD

Collagen-related glomerular basement membrane disease

Collecting duct carcinoma

BDC · Bellini carcinoma

Coloboma of choroid and retina

Coloboma of eye lens

Coloboma of eyelid

Coloboma of inferior eyelid

Inferior palpebral coloboma

Coloboma of iris

Coloboma of macula

Coloboma of macula-brachydactyly type B syndrome

Sorsby syndrome

Coloboma of optic disc

Coloboma of optic papilla

Coloboma of superior eyelid

Superior palpebral coloboma

Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome

COMMAD syndrome

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Microphthalmia-coloboma-rhizomelic skeletal dysplasia

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

Colonic atresia

Color-vision disease

Colorado tick fever

American mountain fever · Colorado tick encephalitis

Combined cervical dystonia

Combined deficiency of factor V and factor VIII

F5F8D · FV and FVIII combined deficiency

Combined deficiency of factor VII and factor X

Combined dystonia

Dystonia-plus syndrome

Combined hamartoma of the retina and retinal pigment epithelium

CHR-RPE · Combined hamartoma of the retina and RPE

Combined hepatocellular carcinoma and cholangiocarcinoma

cHCC-CC · Combined HCC-CC

Combined hyperactive dysfunction syndrome of the cranial nerves

Combined immunodeficiency due to c-REL deficiency

CID due to c-REL deficiency · Combined immunodeficiency due to cellular homolog of v-Rel deficiency

Combined immunodeficiency due to CARD11 deficiency

CID due to CARD11 deficiency · Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Combined immunodeficiency due to CD3gamma deficiency

Combined immunodeficiency due to CRAC channel dysfunction

Immune dysfunction due to T-cell inactivation due to calcium entry defect