Rare Disease Library

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

Choroidal osteoma

Choroideremia

CHM · Tapetochoroidal dystrophy

Chronic myeloid leukemia

CML · Chronic granulocytic leukemia

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

Classic mycosis fungoides

Mycosis fungoides, Alibert-Bazin type

Coccidioidomycosis

California disease · Coccidioides infection

Colchicine poisoning

Coloboma of choroid and retina

Combined immunodeficiency due to FOXN1 haploinsufficiency

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

CVID phenotype due to IKAROS functional haploinsufficiency · Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency

Complications after hematopoietic stem cell transplantation

Complications after HSCT

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital dyserythropoietic anemia

CDA

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Congenital erythropoietic porphyria

CEP · Günther disease

Congenital hypothyroidism

Congenital hypothyroidism due to developmental anomaly

Primary congenital hypothyroidism due to developmental anomaly

Congenital hypothyroidism due to maternal intake of antithyroid drugs

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

Congenital joint dislocations

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

Alloimmune neonatal renal disease · FMAIG

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Congenital muscular dystrophy, Davignon-Chauveau type

Congenital temporomandibular joint ankylosis

Congenital trismus

Congenital thyroid malformation without hypothyroidism

Congenitally short costocoracoid ligament

Conjoined twins

Siamese twins

Constitutional dyserythropoietic anemia

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ARCL1C · Autosomal recessive cutis laxa type 1C

Cutis laxa-Marfanoid syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

Cyanide poisoning

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

Delayed encephalopathy due to carbon monoxide poisoning

Delayed encephalopathy due to CO poisoning

Dermoid or epidermoid cyst of the central nervous system

Dermoid or epidermoid cyst of the CNS

Desbuquois syndrome

Desbuquois dysplasia · DBQD

Desmoid tumor

aggressive fibromatosis · desmoid-type fibromatosis

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

Dianzani autoimmune lymphoproliferative disease

DALD

Differentiated thyroid carcinoma

Papillary or follicular thyroid carcinoma · Well-differentiated thyroid carcinoma

Digitalis poisoning

Discoid lupus erythematosus