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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

ORPHA:3224Malform.

Deafness-hypogonadism syndrome

ORPHA:90646Malform.

Deafness-infertility syndrome

ORPHA:94064Malform.
Autosomal recessive

Deafness-intellectual disability syndrome, Martin-Probst type

ORPHA:85321Malform.
X-linked recessive

Deafness-oligodontia syndrome

ORPHA:3230Malform.

Deafness-vitiligo-achalasia syndrome

ORPHA:3239Malform.
Autosomal recessive

Delayed membranous cranial ossification

ORPHA:3034Malform.

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

ORPHA:3038Malform.

Deletion 5q35 syndrome

ORPHA:1627Malform.
Not applicable, Unknown

Dental ankylosis

ORPHA:1077Malform.

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

ORPHA:71267Malform.
Autosomal recessive

Dermatoosteolysis, Kirghizian type

ORPHA:1657Malform.
Autosomal recessive

Dermoodontodysplasia

ORPHA:1660Malform.
Autosomal dominant

Dermotrichic syndrome

ORPHA:99688Malform.

Desbuquois syndrome

ORPHA:1425Malform.
Autosomal recessive

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

ORPHA:658843Malform.
Autosomal dominant

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

ORPHA:369891Malform.
Autosomal dominant

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

ORPHA:714404Malform.
Autosomal dominant

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

ORPHA:652487Malform.
Autosomal dominant

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

ORPHA:708208Malform.
Autosomal dominant

Developmental malformations-deafness-dystonia syndrome

ORPHA:79107Malform.
Autosomal dominant

Diabetic embryopathy

ORPHA:1926Malform.
Not applicable

Diaphanospondylodysostosis

ORPHA:66637Malform.
Autosomal recessive

Diaphragmatic defect-limb deficiency-skull defect syndrome

ORPHA:2141Malform.
Unknown