MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Genitopatellar syndrome

ORPHA:85201Malf.
Autosomal dominant, Autosomal recessive

German syndrome

ORPHA:2077Malf.
Autosomal recessive

Geroderma osteodysplastica

ORPHA:2078Malf.
Autosomal recessive

Ghosal hematodiaphyseal dysplasia

ORPHA:1802Malf.
Autosomal recessive

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

ORPHA:664438Malf.
Autosomal dominant

Gingival fibromatosis-facial dysmorphism syndrome

ORPHA:2025Malf.
Autosomal recessive

Gingival fibromatosis-hypertrichosis syndrome

ORPHA:2026Malf.
Autosomal dominant

Gingival fibromatosis-progressive deafness syndrome

ORPHA:2027Malf.
Autosomal dominant

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

ORPHA:238763Malf.
Autosomal recessive

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

ORPHA:2084Malf.
Autosomal dominant

Global developmental delay-dental enamel defects-ataxia syndrome

ORPHA:714399Malf.
Autosomal dominant

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

ORPHA:698085Malf.
Autosomal recessive

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

ORPHA:697067Malf.
Autosomal recessive

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

ORPHA:404476Malf.
Not applicable

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

ORPHA:488613Malf.
Autosomal dominant

Global developmental delay-osteopenia-ectodermal defect syndrome

ORPHA:73223Malf.
Unknown

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

ORPHA:708178Malf.
Autosomal dominant

Glomuvenous malformation

ORPHA:83454Malf.
Autosomal dominant

Glossopalatine ankylosis

ORPHA:141163Malf.
Not applicable

Gnathodiaphyseal dysplasia

ORPHA:53697Malf.
Autosomal dominant

Goldberg-Shprintzen megacolon syndrome

ORPHA:66629Malf.
Autosomal recessive

Gollop-Wolfgang complex

ORPHA:1986Malf.
Autosomal dominant, Autosomal recessive

Gordon syndrome

ORPHA:376Malf.
Autosomal dominant

Gorham-Stout disease

ORPHA:73Malf.
Not applicable