Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Autosomal recessive
Adult
Microscopic polyangiitis
Not applicable
Adult, Childhood
Microspherophakia-metaphyseal dysplasia syndrome
Autosomal dominant
Infancy, Neonatal
Microsporidiosis
Not applicable
All ages
Microtia
Autosomal dominant, Autosomal recessive, Not applicable
Infancy, Neonatal
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Autosomal dominant
No data available
Microtriplication 11q24.1 syndrome
Childhood
Microvenular haemangioma
Adult
Microvillus inclusion disease
Autosomal recessive
Infancy, Neonatal
Mid-dermal elastolysis
Not applicable
Adult
Middle East respiratory syndrome
All ages
Middle aortic syndrome
Not applicable
Childhood
Middle ear neuroendocrine tumor
Adolescent, Adult, Elderly
Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
X-linked recessive
Midline cerebral malformation
Midline cervical cleft
Not applicable
Midline interhemispheric variant of holoprosencephaly
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Mietens syndrome
Autosomal recessive
Infancy, Neonatal
Mikati-Najjar-Sahli syndrome
Autosomal recessive
Infancy, Neonatal
Mild Canavan disease
Autosomal recessive
Childhood
Mild hemophilia A
X-linked recessive
Infancy, Neonatal
Mild hemophilia B
X-linked recessive
Infancy, Neonatal
Mild hyperphenylalaninemia
Autosomal recessive
Infancy, Neonatal
Mild phosphoribosylpyrophosphate synthetase superactivity
X-linked recessive
Adolescent, Adult