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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Split hand-split foot-deafness syndrome

ORPHA:71271Malform.
Autosomal recessive

Split-foot malformation-mesoaxial polydactyly syndrome

ORPHA:488232Malform.
Autosomal recessive

Spondylo-ocular syndrome

ORPHA:85194Malform.
Autosomal recessive

Spondylocamptodactyly syndrome

ORPHA:3180Malform.

Spondylocarpotarsal synostosis

ORPHA:3275Malform.
Autosomal recessive

Spondyloenchondrodysplasia

ORPHA:1855Malform.
Autosomal recessive

Spondyloepiphyseal dysplasia, MacDermot type

ORPHA:163668Malform.
Autosomal dominant

Spondylometaphyseal dysplasia, Sedaghatian type

ORPHA:93317Malform.
Autosomal recessive

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

ORPHA:589435Malform.
Autosomal recessive

Sporadic fetal brain disruption sequence

ORPHA:1665Malform.
Not applicable

Stapes ankylosis with broad thumbs and toes

ORPHA:140917Malform.
Autosomal dominant

Steatocystoma multiplex-natal teeth syndrome

ORPHA:3184Malform.
Autosomal dominant

Stimmler syndrome

ORPHA:3199Malform.
Autosomal recessive

Stromme syndrome

ORPHA:506307Malform.
Autosomal recessive

Structural heart defects-renal anomalies syndrome

ORPHA:689822Malform.
Autosomal recessive

Sturge-Weber syndrome

ORPHA:3205Malform.
Not applicable

Stüve-Wiedemann syndrome

ORPHA:3206Malform.
Autosomal recessive

Subaortic stenosis-short stature syndrome

ORPHA:3191Malform.

Sudden infant death-dysgenesis of the testes syndrome

ORPHA:168593Malform.
Autosomal recessive

Supernumerary nostril

ORPHA:141096Malform.
Not applicable

Symbrachydactyly of hands and feet

ORPHA:1570Malform.

Symphalangism with multiple anomalies of hands and feet

ORPHA:3246Malform.

Symptomatic form of Coffin-Lowry syndrome in female carriers

ORPHA:276630Malform.
Autosomal dominant, Not applicable

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

ORPHA:357332Malform.
Autosomal recessive