Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Dandy-Walker malformation-postaxial polydactyly syndrome
Autosomal recessive
Antenatal, Neonatal
Danon disease
X-linked dominant
Childhood
Darier disease
Autosomal dominant
Adolescent, Adult, Childhood
De Barsy syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
De novo thrombotic microangiopathy after kidney transplantation
All ages
Deaf blind hypopigmentation syndrome, Yemenite type
Autosomal recessive
Infancy, Neonatal
Deafness with labyrinthine aplasia, microtia, and microdontia
Autosomal recessive
Infancy, Neonatal
Deafness-craniofacial syndrome
Neonatal
Deafness-ear malformation-facial palsy syndrome
Neonatal
Deafness-enamel hypoplasia-nail defects syndrome
Autosomal recessive
Childhood
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Autosomal recessive
Infancy, Neonatal
Deafness-epiphyseal dysplasia-short stature syndrome
Neonatal
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Infancy, Neonatal
Deafness-hypogonadism syndrome
Infancy, Neonatal
Deafness-infertility syndrome
Autosomal recessive
Childhood, Infancy, Neonatal
Deafness-intellectual disability syndrome, Martin-Probst type
X-linked recessive
Infancy, Neonatal
Deafness-oligodontia syndrome
Infancy, Neonatal
Deafness-onychodystrophy syndrome
Autosomal dominant, Autosomal recessive
Childhood
Deafness-small bowel diverticulosis-neuropathy syndrome
Childhood
Deafness-vitiligo-achalasia syndrome
Autosomal recessive
Infancy, Neonatal
Dedifferentiated liposarcoma
Not applicable
Adult
Deep dermatophytosis
Not applicable
Adult, Childhood
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Autosomal dominant
Childhood
Deficiency of adenosine deaminase 2
Autosomal recessive
Childhood, Infancy