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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

ORPHA:294026Порок
Unknown

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259Порок

Syndactyly-telecanthus-anogenital and renal malformations syndrome

ORPHA:140952Порок
X-linked dominant

Syndromic X-linked intellectual disability 7

ORPHA:85274Порок
X-linked recessive

Syndromic microphthalmia type 5

ORPHA:178364Порок
Autosomal dominant

Syndromic orbital border hypoplasia

ORPHA:98606Порок

Syngnathia-cleft palate syndrome

ORPHA:3263Порок

TARP syndrome

ORPHA:2886Порок
X-linked recessive

TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome

ORPHA:488632Порок
Autosomal recessive

TELO2-related intellectual disability-neurodevelopmental disorder

ORPHA:488642Порок
Autosomal recessive

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

ORPHA:363444Порок
Autosomal recessive

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

ORPHA:562569Порок
Autosomal recessive

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

ORPHA:592570Порок
Autosomal dominant

Takenouchi-Kosaki syndrome

ORPHA:487796Порок
Autosomal dominant

Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095Порок
Autosomal recessive

Talo-patello-scaphoid osteolysis

ORPHA:50809Порок
Autosomal recessive

Tarsal-carpal coalition syndrome

ORPHA:1412Порок
Autosomal dominant

Tatton-Brown-Rahman syndrome

ORPHA:404443Порок
Autosomal dominant

Teebi-Shaltout syndrome

ORPHA:3291Порок
Autosomal recessive

Tel Hashomer camptodactyly syndrome

ORPHA:3292Порок
Unknown

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293Порок
Unknown

Temple syndrome

ORPHA:254516Порок
Autosomal dominant, Not applicable

Temtamy preaxial brachydactyly syndrome

ORPHA:363417Порок
Autosomal recessive

Temtamy syndrome

ORPHA:1777Порок
Autosomal recessive