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

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

ORPHA:294026Мальформация
Unknown

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259Мальформация

Syndactyly-telecanthus-anogenital and renal malformations syndrome

ORPHA:140952Мальформация
X-linked dominant

Syndromic X-linked intellectual disability 7

ORPHA:85274Мальформация
X-linked recessive

Syndromic microphthalmia type 5

ORPHA:178364Мальформация
Autosomal dominant

Syndromic orbital border hypoplasia

ORPHA:98606Мальформация

Syngnathia-cleft palate syndrome

ORPHA:3263Мальформация

TARP syndrome

ORPHA:2886Мальформация
X-linked recessive

TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome

ORPHA:488632Мальформация
Autosomal recessive

TELO2-related intellectual disability-neurodevelopmental disorder

ORPHA:488642Мальформация
Autosomal recessive

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

ORPHA:363444Мальформация
Autosomal recessive

TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome

ORPHA:562569Мальформация
Autosomal recessive

TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

ORPHA:592570Мальформация
Autosomal dominant

Takenouchi-Kosaki syndrome

ORPHA:487796Мальформация
Autosomal dominant

Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095Мальформация
Autosomal recessive

Talo-patello-scaphoid osteolysis

ORPHA:50809Мальформация
Autosomal recessive

Tarsal-carpal coalition syndrome

ORPHA:1412Мальформация
Autosomal dominant

Tatton-Brown-Rahman syndrome

ORPHA:404443Мальформация
Autosomal dominant

Teebi-Shaltout syndrome

ORPHA:3291Мальформация
Autosomal recessive

Tel Hashomer camptodactyly syndrome

ORPHA:3292Мальформация
Unknown

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293Мальформация
Unknown

Temple syndrome

ORPHA:254516Мальформация
Autosomal dominant, Not applicable

Temtamy preaxial brachydactyly syndrome

ORPHA:363417Мальформация
Autosomal recessive

Temtamy syndrome

ORPHA:1777Мальформация
Autosomal recessive