Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Coloboma of macula
Coloboma of macula-brachydactyly type B syndrome
Autosomal dominant
Antenatal, Neonatal
Coloboma of optic disc
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Antenatal, Neonatal
Colobomatous macrophthalmia-microcornea syndrome
Autosomal dominant
Adolescent, Childhood, Elderly, Infancy
Colobomatous microphthalmia
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Autosomal dominant
Infancy, Neonatal
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Autosomal recessive
Neonatal
Colonic atresia
Not applicable
Antenatal, Neonatal
Colorado tick fever
Not applicable
All ages
Combined deficiency of factor V and factor VIII
Autosomal recessive
All ages
Combined deficiency of factor VII and factor X
Adolescent, Adult, Childhood, Infancy, Neonatal
Combined hamartoma of the retina and retinal pigment epithelium
Not applicable
Childhood
Combined hepatocellular carcinoma and cholangiocarcinoma
Adult, Elderly
Combined immunodeficiency due to CARD11 deficiency
Autosomal recessive
Infancy, Neonatal
Combined immunodeficiency due to CD27 deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Combined immunodeficiency due to CD3gamma deficiency
Autosomal recessive
Infancy
Combined immunodeficiency due to COPG1 deficiency
Autosomal recessive
Combined immunodeficiency due to CRAC channel dysfunction
Autosomal recessive
Infancy, Neonatal
Combined immunodeficiency due to DOCK2 deficiency
Autosomal recessive
Infancy, Neonatal
Combined immunodeficiency due to DOCK8 deficiency
Autosomal recessive
Infancy, Neonatal
Combined immunodeficiency due to FCHO1 deficiency
Autosomal recessive
Combined immunodeficiency due to FOXN1 haploinsufficiency
Autosomal dominant
Childhood, Infancy, Neonatal