MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

ORPHA:3224Мальформация

Deafness-hypogonadism syndrome

ORPHA:90646Мальформация

Deafness-infertility syndrome

ORPHA:94064Мальформация
Autosomal recessive

Deafness-intellectual disability syndrome, Martin-Probst type

ORPHA:85321Мальформация
X-linked recessive

Deafness-oligodontia syndrome

ORPHA:3230Мальформация

Deafness-vitiligo-achalasia syndrome

ORPHA:3239Мальформация
Autosomal recessive

Delayed membranous cranial ossification

ORPHA:3034Мальформация

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

ORPHA:3038Мальформация

Deletion 5q35 syndrome

ORPHA:1627Мальформация
Not applicable, Unknown

Dental ankylosis

ORPHA:1077Мальформация

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

ORPHA:71267Мальформация
Autosomal recessive

Dermatoosteolysis, Kirghizian type

ORPHA:1657Мальформация
Autosomal recessive

Dermoodontodysplasia

ORPHA:1660Мальформация
Autosomal dominant

Dermotrichic syndrome

ORPHA:99688Мальформация

Desbuquois syndrome

ORPHA:1425Мальформация
Autosomal recessive

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

ORPHA:658843Мальформация
Autosomal dominant

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

ORPHA:369891Мальформация
Autosomal dominant

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

ORPHA:714404Мальформация
Autosomal dominant

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

ORPHA:652487Мальформация
Autosomal dominant

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

ORPHA:708208Мальформация
Autosomal dominant

Developmental malformations-deafness-dystonia syndrome

ORPHA:79107Мальформация
Autosomal dominant

Diabetic embryopathy

ORPHA:1926Мальформация
Not applicable

Diaphanospondylodysostosis

ORPHA:66637Мальформация
Autosomal recessive

Diaphragmatic defect-limb deficiency-skull defect syndrome

ORPHA:2141Мальформация
Unknown