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

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

ORPHA:294026Мальф.
Unknown

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259Мальф.

Syndactyly-telecanthus-anogenital and renal malformations syndrome

ORPHA:140952Мальф.
X-linked dominant

Syndromic X-linked intellectual disability 7

ORPHA:85274Мальф.
X-linked recessive

Syndromic microphthalmia type 5

ORPHA:178364Мальф.
Autosomal dominant

Syndromic orbital border hypoplasia

ORPHA:98606Мальф.

Syngnathia-cleft palate syndrome

ORPHA:3263Мальф.

TARP syndrome

ORPHA:2886Мальф.
X-linked recessive

TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome

ORPHA:488632Мальф.
Autosomal recessive

TELO2-related intellectual disability-neurodevelopmental disorder

ORPHA:488642Мальф.
Autosomal recessive

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

ORPHA:363444Мальф.
Autosomal recessive

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

ORPHA:562569Мальф.
Autosomal recessive

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

ORPHA:592570Мальф.
Autosomal dominant

Takenouchi-Kosaki syndrome

ORPHA:487796Мальф.
Autosomal dominant

Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095Мальф.
Autosomal recessive

Talo-patello-scaphoid osteolysis

ORPHA:50809Мальф.
Autosomal recessive

Tarsal-carpal coalition syndrome

ORPHA:1412Мальф.
Autosomal dominant

Tatton-Brown-Rahman syndrome

ORPHA:404443Мальф.
Autosomal dominant

Teebi-Shaltout syndrome

ORPHA:3291Мальф.
Autosomal recessive

Tel Hashomer camptodactyly syndrome

ORPHA:3292Мальф.
Unknown

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293Мальф.
Unknown

Temple syndrome

ORPHA:254516Мальф.
Autosomal dominant, Not applicable

Temtamy preaxial brachydactyly syndrome

ORPHA:363417Мальф.
Autosomal recessive

Temtamy syndrome

ORPHA:1777Мальф.
Autosomal recessive