MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Split hand-split foot-deafness syndrome

ORPHA:71271Malf.
Autosomal recessive

Split-foot malformation-mesoaxial polydactyly syndrome

ORPHA:488232Malf.
Autosomal recessive

Spondylo-ocular syndrome

ORPHA:85194Malf.
Autosomal recessive

Spondylocamptodactyly syndrome

ORPHA:3180Malf.

Spondylocarpotarsal synostosis

ORPHA:3275Malf.
Autosomal recessive

Spondyloenchondrodysplasia

ORPHA:1855Malf.
Autosomal recessive

Spondyloepiphyseal dysplasia, MacDermot type

ORPHA:163668Malf.
Autosomal dominant

Spondylometaphyseal dysplasia, Sedaghatian type

ORPHA:93317Malf.
Autosomal recessive

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

ORPHA:589435Malf.
Autosomal recessive

Sporadic fetal brain disruption sequence

ORPHA:1665Malf.
Not applicable

Stapes ankylosis with broad thumbs and toes

ORPHA:140917Malf.
Autosomal dominant

Steatocystoma multiplex-natal teeth syndrome

ORPHA:3184Malf.
Autosomal dominant

Stimmler syndrome

ORPHA:3199Malf.
Autosomal recessive

Stromme syndrome

ORPHA:506307Malf.
Autosomal recessive

Structural heart defects-renal anomalies syndrome

ORPHA:689822Malf.
Autosomal recessive

Sturge-Weber syndrome

ORPHA:3205Malf.
Not applicable

Stüve-Wiedemann syndrome

ORPHA:3206Malf.
Autosomal recessive

Subaortic stenosis-short stature syndrome

ORPHA:3191Malf.

Sudden infant death-dysgenesis of the testes syndrome

ORPHA:168593Malf.
Autosomal recessive

Supernumerary nostril

ORPHA:141096Malf.
Not applicable

Symbrachydactyly of hands and feet

ORPHA:1570Malf.

Symphalangism with multiple anomalies of hands and feet

ORPHA:3246Malf.

Symptomatic form of Coffin-Lowry syndrome in female carriers

ORPHA:276630Malf.
Autosomal dominant, Not applicable

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

ORPHA:357332Malf.
Autosomal recessive