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Bone dysplasia

Bone dysplasia is a heterogeneous group of disorders characterized by abnormal bone development.

Systematic

Hereditary bone disease
Acro-renal-ocular syndrome
Albright hereditary osteodystrophy
Bone dysplasia
Achondroplasia
FGFR3
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
IHH
Antley-Bixler syndrome 1
POR
Antley-Bixler syndrome 2
FGFR2
Apert syndrome
FGFR2
Cherubism
SH3BP2
Chondrodysplasia of Blomstrand type
PTH1R
Chondrodysplasia, Grebe type
Acromesomelic dysplasia, Demirhan type
BMPR1B
Acromesomelic dysplasia, Grebe type
GDF5
Acromesomelic dysplasia, Hunter-Thompson type
GDF5
GDF5
Crouzon syndrome
FGFR3
Eiken syndrome
PTH1R
Failure of tooth eruption
PTH1R
McCune-Albright syndrom
GNAS
Metaphyseal chondrodysplasia of Murk Jansen type
PTH1R
Muenke syndrome
FGFR3
Osteofibrous dysplasia
MET
Osteopathia striata with cranial sclerosis
AMER1
Schimke Immunoosseous dysplasia
SMARCAL1
Thanatophoric dysplasia 1
FGFR3
Thanatophoric dysplasia 2
FGFR3
Ehlers-Danlos syndrome due to tenascin-X deficiency
Familial expansile osteolysis
IVIC syndrome
Juvenile Paget disease
Kabuki syndrome
Metabolic bone disease
Osteoarthritis susceptibility 5

References:

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Orphanet ID 2763 external link
Update: Aug. 14, 2020
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