Hereditary bone disease
Hereditary bone disease includes both functional and morphological alterations of the bones.
Systematic
Hereditary musculoskeletal diseases
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Hereditary bone disease
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Acro-renal-ocular syndrome
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SALL4
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Albright hereditary osteodystrophy
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GNAS
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Bone dysplasia
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Achondroplasia
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FGFR3
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Achondroplasia-SCID syndrome
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Acrocapitofemoral dysplasia
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IHH
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Antley-Bixler syndrome 1
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POR
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Antley-Bixler syndrome 2
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FGFR2
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Apert syndrome
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FGFR2
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Cherubism
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SH3BP2
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Chondrodysplasia of Blomstrand type
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PTH1R
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Chondrodysplasia, Grebe type
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Acromesomelic dysplasia, Demirhan type
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BMPR1B
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Acromesomelic dysplasia, Grebe type
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GDF5
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Acromesomelic dysplasia, Hunter-Thompson type
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GDF5
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GDF5
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Crouzon syndrome
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FGFR3
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Eiken syndrome
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PTH1R
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Failure of tooth eruption
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PTH1R
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McCune-Albright syndrom
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GNAS
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Metaphyseal chondrodysplasia of Murk Jansen type
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PTH1R
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Muenke syndrome
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FGFR3
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Osteofibrous dysplasia
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MET
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Osteopathia striata with cranial sclerosis
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AMER1
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Schimke Immunoosseous dysplasia
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SMARCAL1
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Thanatophoric dysplasia 1
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FGFR3
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Thanatophoric dysplasia 2
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FGFR3
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Ehlers-Danlos syndrome due to tenascin-X deficiency
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TNXB
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Familial expansile osteolysis
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TNFRSF11A
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IVIC syndrome
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SALL4
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Juvenile Paget disease
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TNFRSF11A
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Kabuki syndrome
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KDM6A
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Kabuki syndrome 1
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KMT2D
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Kabuki syndrome 2
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KDM6A
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Metabolic bone disease
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Hereditary Rickets
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Hypophosphatasia
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Adult hypophosphatasia
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ALPL
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Childhood hypophosphatasia
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ALPL
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Infantile hypophosphatasia
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ALPL
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Odontohypophosphatasia
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ALPL
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Hypophosphatemic bone and kindney disease
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Disorders of the renal phosphate transporters
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Hypophosphatemic rickets with hypercalciuria
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SLC34A3
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Idiopathic basal ganglia calcification 1
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SLC20A2
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Nephrolithiasis/osteoporosis, hypophosphatemic, 1
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SLC34A1
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Nephrolithiasis/osteoporosis, hypophosphatemic, 2
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SLC9A3R1
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FGF23-induced hypophosphatemic rickets
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Autosomal dominant hypophosphatemic rickets
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FGF23
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Autosomal recessive hypophosphatemic rickets type 1
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DMP1
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Autosomal recessive hypophosphatemic rickets type 2
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ENPP1
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X-linked dominant hypophosphatemic rickets
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PHEX
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Fanconi-type hypophosphatemic rickets
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Nephrolithiasis/osteoporosis, hypophosphatemic, 1
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SLC34A1
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X-linked recessive hypophosphatemic rickets
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CLCN5
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OCRL
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Hypophosphatemic rickets with hyperparathyroidism
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KL
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Osteoglophonic dysplasia
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FGFR1
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Raine syndrome
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FAM20C
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X-linked dominant hypophosphatemic rickets
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PHEX
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Vitamin D hydroxylation-deficient rickets type 1A
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CYP27B1
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Vitamin D hydroxylation-deficient rickets type 1B
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CYP2R1
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Vitamin D-dependent rickets, type 2A
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VDR
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Vitamin D-dependent rickets, type 2B
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RXRA
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Inherited human diseases of heterotopic bone formation
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Familial tumoral calcinosis
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Familial normophosphatemic tumoral calcinosis
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SAMD9
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Hyperphosphatemic familial tumoral calcinosis
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FGF23
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GALNT3
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KL
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Fibrodysplasia ossificans progressiva
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ACVR1
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Progressive osseous heteroplasia
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GNAS
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Osteopetrosis
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Autosomal dominant osteopetrosis 1
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LRP5
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Autosomal dominant osteopetrosis 2
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CLCN7
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Autosomal recessive osteopetrosis 4
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CLCN7
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Autosomal recessive osteopetrosis 7
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TNFRSF11A
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Combined renal tubular acidosis 3 with osteopetrosis 3
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CA2
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Osteoporosis/renal Osteodystrophy
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CASR
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LRP5
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RXRA
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VDR
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Pseudohypoparathyroidism
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Albright hereditary osteodystrophy
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GNAS
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Pseudohypoparathyroidism type IB
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GNAS
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GNAS-AS1
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STX16
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Osteoarthritis susceptibility 5
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GDF5
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Hereditary joint disease
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Hereditary muscle diseases
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Inborn skeletal malformations
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Short stature
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References:
1. |
None () Rickets.
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None (2004) Inherited ossifying diseases.
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Pereira Filho VA et al. () Osteopetrosis of the jaws.
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Teli M et al. (2004) Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.
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Bielesz B et al. (2004) Renal phosphate loss in hereditary and acquired disorders of bone mineralization.
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Bastepe M et al. (2005) GNAS locus and pseudohypoparathyroidism.
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Bess RS et al. (2005) Spinal exostoses: analysis of twelve cases and review of the literature.
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None (2004) Craniosynostosis syndromes in the genomic era.
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Stieber JR et al. () Manifestations of hereditary multiple exostoses.
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None (2002) Isthmic spondylolisthesis.
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Hammoud S et al. (2005) Tumoral calcinosis in infants: a report of three cases and review of the literature.
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Harb E et al. (2005) Pfeiffer syndrome: systemic and ocular implications.
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13. |
Matzaroglou C et al. () A "reverse" Maffucci's syndrome: case report and short review of the literature.
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None (2005) Renal phosphate--wasting disorders in childhood.
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15. |
van der Linden-van der Zwaag H et al. (2006) Massive osteolysis (Gorham's disease) affecting the femur.
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16. |
Nield LS et al. (2006) Rickets: not a disease of the past.
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Update: Aug. 14, 2020