MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Split hand-split foot-deafness syndrome

ORPHA:71271Порок
Autosomal recessive

Split-foot malformation-mesoaxial polydactyly syndrome

ORPHA:488232Порок
Autosomal recessive

Spondylo-ocular syndrome

ORPHA:85194Порок
Autosomal recessive

Spondylocamptodactyly syndrome

ORPHA:3180Порок

Spondylocarpotarsal synostosis

ORPHA:3275Порок
Autosomal recessive

Spondyloenchondrodysplasia

ORPHA:1855Порок
Autosomal recessive

Spondyloepiphyseal dysplasia, MacDermot type

ORPHA:163668Порок
Autosomal dominant

Spondylometaphyseal dysplasia, Sedaghatian type

ORPHA:93317Порок
Autosomal recessive

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

ORPHA:589435Порок
Autosomal recessive

Sporadic fetal brain disruption sequence

ORPHA:1665Порок
Not applicable

Stapes ankylosis with broad thumbs and toes

ORPHA:140917Порок
Autosomal dominant

Steatocystoma multiplex-natal teeth syndrome

ORPHA:3184Порок
Autosomal dominant

Stimmler syndrome

ORPHA:3199Порок
Autosomal recessive

Stromme syndrome

ORPHA:506307Порок
Autosomal recessive

Structural heart defects-renal anomalies syndrome

ORPHA:689822Порок
Autosomal recessive

Sturge-Weber syndrome

ORPHA:3205Порок
Not applicable

Stüve-Wiedemann syndrome

ORPHA:3206Порок
Autosomal recessive

Subaortic stenosis-short stature syndrome

ORPHA:3191Порок

Sudden infant death-dysgenesis of the testes syndrome

ORPHA:168593Порок
Autosomal recessive

Supernumerary nostril

ORPHA:141096Порок
Not applicable

Symbrachydactyly of hands and feet

ORPHA:1570Порок

Symphalangism with multiple anomalies of hands and feet

ORPHA:3246Порок

Symptomatic form of Coffin-Lowry syndrome in female carriers

ORPHA:276630Порок
Autosomal dominant, Not applicable

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

ORPHA:357332Порок
Autosomal recessive