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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

Genitopatellar syndrome

ORPHA:85201Malform.
Autosomal dominant, Autosomal recessive

German syndrome

ORPHA:2077Malform.
Autosomal recessive

Geroderma osteodysplastica

ORPHA:2078Malform.
Autosomal recessive

Ghosal hematodiaphyseal dysplasia

ORPHA:1802Malform.
Autosomal recessive

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

ORPHA:664438Malform.
Autosomal dominant

Gingival fibromatosis-facial dysmorphism syndrome

ORPHA:2025Malform.
Autosomal recessive

Gingival fibromatosis-hypertrichosis syndrome

ORPHA:2026Malform.
Autosomal dominant

Gingival fibromatosis-progressive deafness syndrome

ORPHA:2027Malform.
Autosomal dominant

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

ORPHA:238763Malform.
Autosomal recessive

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

ORPHA:2084Malform.
Autosomal dominant

Global developmental delay-dental enamel defects-ataxia syndrome

ORPHA:714399Malform.
Autosomal dominant

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

ORPHA:698085Malform.
Autosomal recessive

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

ORPHA:697067Malform.
Autosomal recessive

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

ORPHA:404476Malform.
Not applicable

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

ORPHA:488613Malform.
Autosomal dominant

Global developmental delay-osteopenia-ectodermal defect syndrome

ORPHA:73223Malform.
Unknown

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

ORPHA:708178Malform.
Autosomal dominant

Glomuvenous malformation

ORPHA:83454Malform.
Autosomal dominant

Glossopalatine ankylosis

ORPHA:141163Malform.
Not applicable

Gnathodiaphyseal dysplasia

ORPHA:53697Malform.
Autosomal dominant

Goldberg-Shprintzen megacolon syndrome

ORPHA:66629Malform.
Autosomal recessive

Gollop-Wolfgang complex

ORPHA:1986Malform.
Autosomal dominant, Autosomal recessive

Gordon syndrome

ORPHA:376Malform.
Autosomal dominant

Gorham-Stout disease

ORPHA:73Malform.
Not applicable