Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Knochendysplasie

Unter Knochendysplasie ist eine heterogene Gruppe von Knochenerkrankungen verstanden, die durch eine Fehlentwicklung entstehen.

Gliederung

Erbliche Knochenerkrankungen
Akro-reno-okuläres Syndrom
Albright-Osteodystrophie
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Expansile familiäre Osteolyse
IVIC-Syndrom
Juveniles Paget-Syndrom
Kabuki-Syndrom
Knochendysplasie
Achondroplasie
FGFR3
Achondroplasie-SCID-Syndrom
Akro-capito-femorale Dysplasie
IHH
Antley-Bixler-Syndrom 1
POR
Antley-Bixler-Syndrom 2
FGFR2
Apert-Syndrom
FGFR2
Blomstrand-Chondrodysplasie
PTH1R
Cherubismus
SH3BP2
Chondrodysplasie
Akromesomele Dysplasie Typ Demirhan
BMPR1B
Akromesomele Dysplasie Typ Grebe
GDF5
Akromesomele Dysplasie Typ Hunter-Thompson
GDF5
GDF5
Crouzon-Syndrom
FGFR3
Eiken-Syndrom
PTH1R
McCune-Albright-Syndrom
GNAS
Muenke-Syndrom
FGFR3
Murk-Jansen metaphyseale Chondrodysplasie
PTH1R
Osteofibröse dysplasie
MET
Osteopathia striata mit kranialer Sklerose
AMER1
Schimke-Dysplasie
SMARCAL1
Thanatophore Dysplasie 1
FGFR3
Thanatophore Dysplasie 2
FGFR3
Zahnbildungsstörungen
PTH1R
Metabolische Knochenerkrankungen
Osteoarthritis-Neigung 5

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Orphanet article

Orphanet ID 2763 external link
Update: 14. August 2020
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