Rare Disease Library

Chronic mucocutaneous candidiasis

CMC

Chronic myeloid leukemia

CML · Chronic granulocytic leukemia

Chronic myelomonocytic leukemia

CMML

Chronic myeloproliferative disease, unclassifiable

CMPD-U · Undifferentiated myeloproliferative disease

Chronic neurovisceral acid sphingomyelinase deficiency

Chronic neurovisceral ASMD · Niemann-Pick disease type A/B

Chronic neutrophilic leukemia

Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis

CNO/CRMO

Chronic pneumonitis of infancy

CPI

Chronic polyradiculoneuropathy

Chronic primary adrenal insufficiency

CPAI · Chronic adrenocorticoid insufficiency

Chronic relapsing inflammatory optic neuritis

CRION

Chronic respiratory distress with surfactant metabolism deficiency

Chronic thromboembolic pulmonary hypertension

CTEPH

Chronic visceral acid sphingomyelinase deficiency

Chronic visceral ASMD · Niemann-Pick disease type B

CHST3-related skeletal dysplasia

Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type

Chudley-Lowry-Hoar syndrome

Chudley-Lowry syndrome

Chudley-McCullough syndrome

Chuvash erythrocytosis

Chuvash polycythemia · Von Hippel-Lindau-dependent polycythemia

Chylomicron retention disease

Anderson disease · CMRD

Chylous ascites

CIDEC-related familial partial lipodystrophy

FPLD5 · CIDEC-related FPLD

Ciliopathies with major skeletal involvement

SRP · Short rib dysplasia

Ciliopathy

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Circumscribed palmoplantar hypokeratosis

Circumscribed acral hypokeratosis

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Citrullinemia

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

CLAPO syndrome

Clark-Baraitser syndrome

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

Classic bladder exstrophy

Classic exstrophy of the bladder

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Classic 21-OHD CAH

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Classic 21-OHD CAH, salt wasting form

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

Classic 21-OHD CAH, simple virilizing form

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Classic hairy cell leukemia

HCL-C · Leukemic reticuloendotheliosis

Classic heparin-induced thrombocytopenia

Classic heparin-associated thrombocytopenia · Classic HAT

Classic Hodgkin lymphoma

Classic Hodgkin disease

Classic Hodgkin lymphoma, lymphocyte-depleted type

Classic Hodgkin lymphoma, lymphocyte-rich type

Classic Hodgkin lymphoma, mixed cellularity type

Classic Hodgkin lymphoma, nodular sclerosis type