MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Split hand-split foot-deafness syndrome

ORPHA:71271Мальформация
Autosomal recessive

Split-foot malformation-mesoaxial polydactyly syndrome

ORPHA:488232Мальформация
Autosomal recessive

Spondylo-ocular syndrome

ORPHA:85194Мальформация
Autosomal recessive

Spondylocamptodactyly syndrome

ORPHA:3180Мальформация

Spondylocarpotarsal synostosis

ORPHA:3275Мальформация
Autosomal recessive

Spondyloenchondrodysplasia

ORPHA:1855Мальформация
Autosomal recessive

Spondyloepiphyseal dysplasia, MacDermot type

ORPHA:163668Мальформация
Autosomal dominant

Spondylometaphyseal dysplasia, Sedaghatian type

ORPHA:93317Мальформация
Autosomal recessive

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

ORPHA:589435Мальформация
Autosomal recessive

Sporadic fetal brain disruption sequence

ORPHA:1665Мальформация
Not applicable

Stapes ankylosis with broad thumbs and toes

ORPHA:140917Мальформация
Autosomal dominant

Steatocystoma multiplex-natal teeth syndrome

ORPHA:3184Мальформация
Autosomal dominant

Stimmler syndrome

ORPHA:3199Мальформация
Autosomal recessive

Stromme syndrome

ORPHA:506307Мальформация
Autosomal recessive

Structural heart defects-renal anomalies syndrome

ORPHA:689822Мальформация
Autosomal recessive

Sturge-Weber syndrome

ORPHA:3205Мальформация
Not applicable

Stüve-Wiedemann syndrome

ORPHA:3206Мальформация
Autosomal recessive

Subaortic stenosis-short stature syndrome

ORPHA:3191Мальформация

Sudden infant death-dysgenesis of the testes syndrome

ORPHA:168593Мальформация
Autosomal recessive

Supernumerary nostril

ORPHA:141096Мальформация
Not applicable

Symbrachydactyly of hands and feet

ORPHA:1570Мальформация

Symphalangism with multiple anomalies of hands and feet

ORPHA:3246Мальформация

Symptomatic form of Coffin-Lowry syndrome in female carriers

ORPHA:276630Мальформация
Autosomal dominant, Not applicable

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

ORPHA:357332Мальформация
Autosomal recessive