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

Genitopatellar syndrome

ORPHA:85201Мальформация
Autosomal dominant, Autosomal recessive

German syndrome

ORPHA:2077Мальформация
Autosomal recessive

Geroderma osteodysplastica

ORPHA:2078Мальформация
Autosomal recessive

Ghosal hematodiaphyseal dysplasia

ORPHA:1802Мальформация
Autosomal recessive

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

ORPHA:664438Мальформация
Autosomal dominant

Gingival fibromatosis-facial dysmorphism syndrome

ORPHA:2025Мальформация
Autosomal recessive

Gingival fibromatosis-hypertrichosis syndrome

ORPHA:2026Мальформация
Autosomal dominant

Gingival fibromatosis-progressive deafness syndrome

ORPHA:2027Мальформация
Autosomal dominant

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

ORPHA:238763Мальформация
Autosomal recessive

Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

ORPHA:2084Мальформация
Autosomal dominant

Global developmental delay-dental enamel defects-ataxia syndrome

ORPHA:714399Мальформация
Autosomal dominant

Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome

ORPHA:698085Мальформация
Autosomal recessive

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

ORPHA:697067Мальформация
Autosomal recessive

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

ORPHA:404476Мальформация
Not applicable

Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

ORPHA:488613Мальформация
Autosomal dominant

Global developmental delay-osteopenia-ectodermal defect syndrome

ORPHA:73223Мальформация
Unknown

Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome

ORPHA:708178Мальформация
Autosomal dominant

Glomuvenous malformation

ORPHA:83454Мальформация
Autosomal dominant

Glossopalatine ankylosis

ORPHA:141163Мальформация
Not applicable

Gnathodiaphyseal dysplasia

ORPHA:53697Мальформация
Autosomal dominant

Goldberg-Shprintzen megacolon syndrome

ORPHA:66629Мальформация
Autosomal recessive

Gollop-Wolfgang complex

ORPHA:1986Мальформация
Autosomal dominant, Autosomal recessive

Gordon syndrome

ORPHA:376Мальформация
Autosomal dominant

Gorham-Stout disease

ORPHA:73Мальформация
Not applicable