MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

ORPHA:294026Malform.
Unknown

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259Malform.

Syndactyly-telecanthus-anogenital and renal malformations syndrome

ORPHA:140952Malform.
X-linked dominant

Syndromic X-linked intellectual disability 7

ORPHA:85274Malform.
X-linked recessive

Syndromic microphthalmia type 5

ORPHA:178364Malform.
Autosomal dominant

Syndromic orbital border hypoplasia

ORPHA:98606Malform.

Syngnathia-cleft palate syndrome

ORPHA:3263Malform.

TARP syndrome

ORPHA:2886Malform.
X-linked recessive

TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome

ORPHA:488632Malform.
Autosomal recessive

TELO2-related intellectual disability-neurodevelopmental disorder

ORPHA:488642Malform.
Autosomal recessive

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

ORPHA:363444Malform.
Autosomal recessive

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

ORPHA:562569Malform.
Autosomal recessive

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

ORPHA:592570Malform.
Autosomal dominant

Takenouchi-Kosaki syndrome

ORPHA:487796Malform.
Autosomal dominant

Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095Malform.
Autosomal recessive

Talo-patello-scaphoid osteolysis

ORPHA:50809Malform.
Autosomal recessive

Tarsal-carpal coalition syndrome

ORPHA:1412Malform.
Autosomal dominant

Tatton-Brown-Rahman syndrome

ORPHA:404443Malform.
Autosomal dominant

Teebi-Shaltout syndrome

ORPHA:3291Malform.
Autosomal recessive

Tel Hashomer camptodactyly syndrome

ORPHA:3292Malform.
Unknown

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293Malform.
Unknown

Temple syndrome

ORPHA:254516Malform.
Autosomal dominant, Not applicable

Temtamy preaxial brachydactyly syndrome

ORPHA:363417Malform.
Autosomal recessive

Temtamy syndrome

ORPHA:1777Malform.
Autosomal recessive