MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

ORPHA:3224Мальф.

Deafness-hypogonadism syndrome

ORPHA:90646Мальф.

Deafness-infertility syndrome

ORPHA:94064Мальф.
Autosomal recessive

Deafness-intellectual disability syndrome, Martin-Probst type

ORPHA:85321Мальф.
X-linked recessive

Deafness-oligodontia syndrome

ORPHA:3230Мальф.

Deafness-vitiligo-achalasia syndrome

ORPHA:3239Мальф.
Autosomal recessive

Delayed membranous cranial ossification

ORPHA:3034Мальф.

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

ORPHA:3038Мальф.

Deletion 5q35 syndrome

ORPHA:1627Мальф.
Not applicable, Unknown

Dental ankylosis

ORPHA:1077Мальф.

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

ORPHA:71267Мальф.
Autosomal recessive

Dermatoosteolysis, Kirghizian type

ORPHA:1657Мальф.
Autosomal recessive

Dermoodontodysplasia

ORPHA:1660Мальф.
Autosomal dominant

Dermotrichic syndrome

ORPHA:99688Мальф.

Desbuquois syndrome

ORPHA:1425Мальф.
Autosomal recessive

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

ORPHA:658843Мальф.
Autosomal dominant

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

ORPHA:369891Мальф.
Autosomal dominant

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

ORPHA:714404Мальф.
Autosomal dominant

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

ORPHA:652487Мальф.
Autosomal dominant

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

ORPHA:708208Мальф.
Autosomal dominant

Developmental malformations-deafness-dystonia syndrome

ORPHA:79107Мальф.
Autosomal dominant

Diabetic embryopathy

ORPHA:1926Мальф.
Not applicable

Diaphanospondylodysostosis

ORPHA:66637Мальф.
Autosomal recessive

Diaphragmatic defect-limb deficiency-skull defect syndrome

ORPHA:2141Мальф.
Unknown