MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

ORPHA:3224Порок

Deafness-hypogonadism syndrome

ORPHA:90646Порок

Deafness-infertility syndrome

ORPHA:94064Порок
Autosomal recessive

Deafness-intellectual disability syndrome, Martin-Probst type

ORPHA:85321Порок
X-linked recessive

Deafness-oligodontia syndrome

ORPHA:3230Порок

Deafness-vitiligo-achalasia syndrome

ORPHA:3239Порок
Autosomal recessive

Delayed membranous cranial ossification

ORPHA:3034Порок

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

ORPHA:3038Порок

Deletion 5q35 syndrome

ORPHA:1627Порок
Not applicable, Unknown

Dental ankylosis

ORPHA:1077Порок

Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

ORPHA:71267Порок
Autosomal recessive

Dermatoosteolysis, Kirghizian type

ORPHA:1657Порок
Autosomal recessive

Dermoodontodysplasia

ORPHA:1660Порок
Autosomal dominant

Dermotrichic syndrome

ORPHA:99688Порок

Desbuquois syndrome

ORPHA:1425Порок
Autosomal recessive

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

ORPHA:658843Порок
Autosomal dominant

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

ORPHA:369891Порок
Autosomal dominant

Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome

ORPHA:714404Порок
Autosomal dominant

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

ORPHA:652487Порок
Autosomal dominant

Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome

ORPHA:708208Порок
Autosomal dominant

Developmental malformations-deafness-dystonia syndrome

ORPHA:79107Порок
Autosomal dominant

Diabetic embryopathy

ORPHA:1926Порок
Not applicable

Diaphanospondylodysostosis

ORPHA:66637Порок
Autosomal recessive

Diaphragmatic defect-limb deficiency-skull defect syndrome

ORPHA:2141Порок
Unknown