Orphanet Database • Orphadata CC-BY-4.0
Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
7,547
Заболеваний
4 552
Генов
8 700
Фенотипов
140
Регионов
Все (7,547)Biological anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformation syndromeMorphological anomalyParticular clinical situation in a disease or syndrome
Marginal papular palmoplantar keratoderma
Autosomal dominant
Marginal zone lymphoma
Adult
Marie Unna hereditary hypotrichosis
Autosomal dominant
Infancy, Neonatal
Marinesco-Sjögren syndrome
Autosomal recessive
Childhood, Infancy
Marshall syndrome
Autosomal dominant, Autosomal recessive
Neonatal
Marshall-Smith syndrome
Autosomal dominant
Infancy, Neonatal
Martinique crinkled retinal pigment epitheliopathy
Autosomal dominant
Adult
Mast cell leukemia
Not applicable
All ages
Mast cell sarcoma
All ages
Mastocytosis
All ages
Maternal hyperthermia-induced birth defects
Antenatal, Neonatal
Maternal phenylketonuria syndrome
Autosomal recessive
Antenatal, Neonatal
Maternal riboflavin deficiency
Autosomal dominant
Adult
Maternal uniparental disomy of chromosome 1 syndrome
Not applicable, Unknown
Infancy, Neonatal
Maternal uniparental disomy of chromosome 13 syndrome
Adult
Maternal uniparental disomy of chromosome 16 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 2 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 20 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 21 syndrome
Maternal uniparental disomy of chromosome 22 syndrome
Antenatal, Infancy, Neonatal
Maternal uniparental disomy of chromosome 4 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 6 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 9 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome X syndrome
Neonatal