| 疾病名称 |
别名 |
|
| Sclerosteosis 1 |
|
SOST1
|
Sost
|
|
Cortical Hyperostosis With Syndactyly
|
Sclerosteosis
|
|
Sclerosteosis, Type 1
|
|
|
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
CDD
|
Autosomal Dominant Craniodiaphyseal Dysplasia
|
|
Schaefer Stein Oshman Syndrome
|
Craniodiaphyseal Dysplasia Autosomal Dominant
|
|
|
| Van Buchem Disease |
|
Hyperostosis Corticalis Generalisata
|
Hyperphosphatasemia Tarda
|
|
VBCH
|
Sost-Related Sclerosing Bone Dysplasia
|
|
Endosteal Hyperostosis Autosomal Recessive
|
Sclerosteosis
|
|
Endosteal Hyperostosis, Autosomal Recessive
|
Hyperotosis Corticalis Generalisata Familiaris
|
|
Sost Sclerosing Bone Dysplasia
|
Smith-Lemli-Opitz Syndrome
|
|
|
| Sclerosteosis |
|
Cortical Hyperostosis With Syndactyly
|
Sost
|
|
Cortical Hyperostosis-Syndactyly Syndrome
|
|
|
| Craniodiaphyseal Dysplasia |
|
CDD
|
Schaefer Stein Oshman Syndrome
|
|
Craniodiaphyseal Dysplasia, Dominant
|
Dominantly Inherited Craniodiaphyseal Dysplasia
|
|
|
| Hyperostosis |
|
Hypertrophy Of Bone
|
Bone Hypertrophy
|
|
Bone Thickening
|
Periosteum Thickening
|
|
|
| Bone Disease |
|
Bone Diseases
|
Skeletal Disease
|
|
Skeletal Disorder
|
Disorder Of Skeletal System
|
|
|
| Osteoporosis |
|
Postmenopausal Osteoporosis
|
Osteoporosis, Postmenopausal
|
|
Bone Mineral Density Quantitative Trait Locus
|
Bmnd
|
|
Osteoporosis, Involutional
|
Osteoporosis, Susceptibility To
|
|
Osteoporosis, Postmenopausal, Susceptibility
|
Bone Mineral Density Variation Qtl, Osteoporosis
|
|
OSTEOP
|
Involutional Osteoporosis
|
|
Senile Osteoporosis
|
Osteoporosis Postmenopausal
|
|
Bone Mineral Density, Quantitative Trait Locus
|
Osteoporosis, Senile
|
|
Idiopathic Osteoporosis
|
Bone Rarefaction Nos
|
|
Type 1 Osteoporosis
|
|
|
| Sclerosteosis 2 |
|
SOST2
|
Sclerosteosis, Type 2
|
|
|
| Mccune-Albright Syndrome |
|
Mass Syndrome
|
Polyostotic Fibrous Dysplasia
|
|
MAS
|
Fibrous Dysplasia Of Bone
|
|
Albright Syndrome
|
Mass Phenotype
|
|
Overlap Connective Tissue Disease
|
Mccune Albright Syndrome
|
|
Osteitis Fibrosa Disseminata
|
OCTD
|
|
Albright'S Disease
|
Pfd
|
|
Pofd
|
Albright'S Syndrome
|
|
Mccune-Albright Syndrome, Somatic, Mosaic
|
Albright'S Disease Of Bone
|
|
Albright'S Syndrome With Precocious Puberty
|
Albright-Mccune-Sternberg Syndrome
|
|
Albright-Sternberg Syndrome
|
Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty
|
|
Gonadotropin-Independent Female-Limited Sexual Precocity
|
Fibrous Dysplasia Polyostotic
|
|
Fibrous Dysplasia, Polyostotic
|
|
|
| Endosteal Hyperostosis, Autosomal Dominant |
|
Osteosclerosis
|
Worth Syndrome
|
|
Osteosclerosis, Autosomal Dominant
|
Hyperostosis, Endosteal
|
|
Endosteal Hyperostosis, Worth Type
|
Worth Disease
|
|
Autosomal Dominant Endosteal Hyperostosis
|
Autosomal Dominant Osteosclerosis, Worth Type
|
|
Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus
|
Autosomal Dominant Osteosclerosis
|
|
Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus
|
Worth'S Syndrome
|
|
Worth Type Autosomal Dominant Osteosclerosis
|
Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus
|
|
Osteosclerosis, Autosomal Dominant, Worth Type
|
WENHY
|
|
Endosteal Hyperostosis Autosomal Dominant
|
Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus
|
|
Osteosclerosis Autosomal Dominant
|
Acquired Osteosclerosis
|
|
|
| Osteomalacia |
|
|
| Glucocorticoid-Induced Osteoporosis |
|
Steroid-Induced Osteoporosis
|
|
|
| Bone Remodeling Disease |
|
|
| Spondylitis |
|
|
| Hypophosphatemia |
|
Vitamin D-Resistant Rickets
|
Hereditary Hypophosphatemic Rickets
|
|
Vdrr
|
Vitamin D Resistant Rickets
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Familial Hypophosphatemic Rickets
|
|
|
| Bone Resorption Disease |
|
|
| Osteoporosis-Pseudoglioma Syndrome |
|
OPPG
|
Ops
|
|
Osteoporosis With Pseudoglioma
|
Osteogenesis Imperfecta, Ocular Form
|
|
Ocular Form Of Osteogenesis Imperfecta
|
Osteogenesis Imperfecta Ocular Form
|
|
Osteoporosis Pseudoglioma Syndrome
|
Pseudoglioma With Bone Fragility
|
|
|
| Osteogenesis Imperfecta, Type Vi |
|
OI6
|
Osteogenesis Imperfecta Type 6
|
|
Osteogenesis Imperfecta Type Vi
|
Oi Type Vi
|
|
Oi Type 6
|
Osteogenesis Imperfecta Type
|
|
Serpinfi- Related Osteogenesis Imperfecta
|
Osteogenesis Imperfecta 6
|
|
Oi-Vi
|
|
|
| Hyperparathyroidism |
|
Hyperparathyroidism And Other Disorders Of Parathyroid Gland
|
Parathyroid Hyperfunction
|
|
Hpth - [Hyperparathyroidism]
|
Parathyroid Gland Hyperfunction
|
|
Parathyroid Glandular Hyperfunction
|
|
|
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
ECTD13
|
Ectodermal Dysplasia 13
|
|
|
| Osteogenesis Imperfecta, Type Vii |
|
Osteogenesis Imperfecta Type 7
|
Osteogenesis Imperfecta Type Vii
|
|
OI7
|
Oi Type Vii
|
|
Oi, Type Vii
|
Osteogenesis Imperfecta, Type Iib, Formerly
|
|
Oi2b, Formerly
|
Oi Type 7
|
|
Osteogenesis Imperfecta 7
|
Oi2b
|
|
Oi-Iib
|
Oi Type Iib
|
|
Oi-Vii
|
Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive
|
|
Osteogenesis Imperfecta Type Ii Autosomal Recessive
|
Osteogenesis Imperfecta Type Iib
|
|
|
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly Type 7
|
Cenani Syndactylism
|
|
Cenani-Lenz Syndactyly
|
CLSS
|
|
Syndactyly Cenani Lenz Type
|
Cenani-Lenz Syndrome
|
|
Syndactyly, Type Vii
|
Cenani-Lenz Type Syndactyly
|
|
Cenani Syndactyly
|
Syndactyly Type Vii
|
|
|
| Chronic Kidney Disease |
|
Chronic Renal Disease
|
Chronic Kidney Failure
|
|
Ckd
|
Chronic Renal Failure
|
|
Kidney Failure, Chronic
|
Chronic Renal Failure Syndrome
|
|
Crf
|
Renal Failure - Chronic
|
|
Renal Failure Chronic
|
Chronic Kidney Diseases
|
|
Chronic Kidney Disease Stage 5
|
Ckd - [Chronic Kidney Disease]
|
|
Crf - [Chronic Renal Failure]
|
Chronic Kidney Impairment
|
|
Chronic Renal Impairment
|
Chronic Kidney Shutdown
|
|
Chronic Hypoxic Kidney Failure
|
Chronic Kidney Collapse
|
|
Chronic Renal Insufficiency
|
Chronic Kidney Toxaemia
|
|
Chronic Kidney Hypofunction
|
Chronic Renal Suppression
|
|
Chronic Renal Failure, Stage 5
|
Ckd - [Chronic Kidney Disease] Stage 5
|
|
End Stage Kidney Failure
|
End Stage Renal Failure
|
|
End Stage Kidney Disease
|
End Stage Renal Disease
|
|
End Stage Chronic Renal Failure
|
Esrf - [End Stage Renal Failure]
|
|
Esrd - [End Stage Renal Diseases]
|
Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
|
|
|
| Ischemic Bone Disease |
|
|
| Pycnodysostosis |
|
Pyknodysostosis
|
PKND
|
|
Pycd
|
Toulouse-Lautrec Syndrome
|
|
|
| Diffuse Idiopathic Skeletal Hyperostosis |
|
Hyperostosis, Diffuse Idiopathic Skeletal
|
Ankylosing Vertebral Hyperostosis
|
|
Dish
|
Disseminated Idiopathic Skeletal Hyperostosis
|
|
Forestier Disease
|
Forestier'S Disease
|
|
Hyperostosis Diffuse Idiopathic Skeletal
|
|
|
| Osteogenesis Imperfecta, Type Xv |
|
Osteogenesis Imperfecta Type 15
|
OI15
|
|
Osteogenesis Imperfecta Type Xv
|
Oi, Type Xv
|
|
Osteogenesis Imperfecta 15
|
Oi Type Xv
|
|
Oi-Xv
|
|
|
| Parathyroid Gland Disease |
|
Parathyroid Diseases
|
Disease Of Parathyroid Glands
|
|
Parathyroid Disease
|
|
|
| Osteitis Fibrosa |
|
Osteitis Fibrosa Cystica
|
Hyperparathyroid Bone Disease
|
|
Osteitis Fibrosa Cystica Generalisata
|
Von Recklinghausen'S Bone Disease
|
|
Osteitis Fibrosa Disseminata
|
|
|
| Osteopathia Striata With Cranial Sclerosis |
|
Hyperostosis Generalisata With Striations
|
Robinow-Unger Syndrome
|
|
OSCS
|
Osteopathia Striata Cranial Sclerosis
|
|
Osteopathia Striata-Cranial Sclerosis Syndrome
|
Horan-Beighton Syndrome
|
|
Os-Cs
|
Osteopathia Striata - Cranial Sclerosis
|
|
Voorhoeve Disease
|
Osc
|
|
|
| Osteoporosis, Juvenile |
|
Idiopathic Juvenile Osteoporosis
|
Idiopathic Osteoporosis
|
|
Juvenile Osteoporosis
|
Ijo
|
|
|
| Hypophosphatemic Rickets, X-Linked Dominant |
|
X-Linked Hypophosphatemia
|
Xlh
|
|
Vitamin D-Resistant Rickets, X-Linked
|
X-Linked Hypophosphatemic Rickets
|
|
XLHR
|
Hyp
|
|
Hypophosphatemic Vitamin D-Resistant Rickets
|
Hpdr
|
|
X-Linked Dominant Hypophosphatemic Rickets
|
Familial Hypophosphatemic Rickets
|
|
Hypophosphatemia, X-Linked
|
Hypophosphatemia, Vitamin D-Resistant Rickets
|
|
Hypophosphatemic Rickets X-Linked Dominant
|
X-Linked Vitamin D-Resistant Rickets
|
|
Hypophophatemia, X-Linked
|
Hypophophatemic Vitamin D-Resistant Rickets
|
|
Hypophosphatemia X-Linked
|
Vitamin D-Resistant Rickets X-Linked
|
|
Vitamin D-Resistant Rickets
|
Rickets, X-Linked Hypophosphatemic
|
|
|
| Hypophosphatasia, Childhood |
|
Childhood Hypophosphatasia
|
Childhood-Onset Hypophosphatasia
|
|
HPPC
|
Childhood-Onset Phosphoethanolaminuria
|
|
Childhood-Onset Rathburn Disease
|
Childhood-Onset Rathbun Disease
|
|
|
| Exostosis |
|
Osteophyte
|
Exostoses
|
|
Orbital Exostosis
|
Exostosis Of Orbit
|
|
Bone Spur
|
Bony Outgrowth
|
|
Swimmer'S Exostosis
|
Osteophytes
|
|
External Exotoses
|
Cartilaginous Exostosis
|
|
|
| Brittle Bone Disorder |
|
Osteogenesis Imperfecta
|
Brittle Bone Disease
|
|
Fragilitas Ossium
|
Osteopsathyrosis
|
|
Lobstein Disease
|
Oi
|
|
Vrolik Disease
|
Lobstein'S Disease
|
|
Lobstein'S Syndrome
|
Vrolik'S Disease
|
|
Porak And Durante Disease
|
Glass Bone Disease
|
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
Osteogenesis Imperfecta, Recessive Perinatal Lethal
|
|
Brittle Bone Syndrome
|
Oi - [Osteogenesis Imperfecta]
|
|
Ossium Fragility
|
Osteitis Fragilitans
|
|
Bony Fragility
|
Blue Sclera With Fragility Of Bone And Deafness
|
|
White Blue Sclera - Fragility Of Bone - Deafness
|
|
|
| Ankylosis |
|
|
| Mammary Paget'S Disease |
|
Paget'S Disease
|
Mammary Paget Disease
|
|
Paget'S Disease Of The Breast
|
Paget Disease Of The Breast
|
|
Paget'S Disease Of The Nipple
|
Paget'S Disease, Mammary
|
|
Paget Cell Neoplasm
|
Paget Disease Of The Nipple
|
|
Pagets Disease Mammary
|
Osteitis Deformans
|
|
|
| Familial Expansile Osteolysis |
|
FEO
|
Mccabe Disease
|
|
Osteolysis, Familial Expansile
|
Polyostotic Osteolytic Dysplasia, Hereditary Expansile
|
|
Hepod
|
Expansile Osteolysis, Familial
|
|
Eof
|
Hereditary Expansile Polyostotic Osteolytic Dysplasia
|
|
|
| Hypophosphatasia |
|
Phosphoethanolaminuria
|
Childhood Hypophosphatasia
|
|
Deficiency Of Alkaline Phosphatase
|
Hypophospatasia, Childhood
|
|
Hypophosphatasia Mild
|
Phosphoethanol-Aminuria
|
|
Rathburn Disease
|
Hpp
|
|
Rathbun Disease
|
Hypophosphatasia, Childhood
|
|
Infantile Hypophosphatasia
|
|
|
| Bone Development Disease |
|
|
| Enthesopathy |
|
|
| Camurati-Engelmann Disease |
|
Progressive Diaphyseal Dysplasia
|
Ced
|
|
Engelmann Disease
|
Diaphyseal Dysplasia 1, Progressive
|
|
Pdd
|
Diaphyseal Dysplasia
|
|
Dpd1
|
Camurati-Engelmann Syndrome
|
|
CAEND
|
Engelman'S Disease
|
|
Diaphyseal Hyperostosis
|
Diaphyseal Osteosclerosis
|
|
|
| Phosphorus Metabolism Disease |
|
Phosphorus Metabolism Disorders
|
Disorder Of Phosphorus Metabolism
|
|
Phosphorus Disorder
|
Phosphorus Metabolism Disorder
|
|
|
| Tetraamelia Syndrome |
|
Tetra-Amelia Syndrome
|
Tetraamelia-Multiple Malformations Syndrome
|
|
Tetra-Amelia
|
Tetra-Amelia, Autosomal Recessive
|
|
Tetraamelia, Autosomal Recessive
|
Total Amelia
|
|
Zimmer Phocomelia
|
Tetams
|
|
Zimmer Taub Sova Syndrome
|
|
|
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Craniometaphyseal Dysplasia
|
CMDD
|
|
Cmdj
|
Cmd
|
|
Autosomal Dominant Craniometaphyseal Dysplasia
|
Craniometaphyseal Dysplasia, Jackson Type
|
|
Craniometaphyseal Dysplasia Jackson Type
|
Autosomal Recessive Craniometaphyseal Dysplasia
|
|
Cmdr
|
Dysplasia, Craniometaphyseal, Autosomal Dominant
|
|
Craniometaphyseal Dysplasia, Autosomal Recessive Type
|
|
|
| Metaphyseal Dysplasia |
|
Bakwin-Krida Syndrome
|
Pyle'S Disease
|
|
Pyle-Cohn Syndrome
|
|
|
| Primary Hyperparathyroidism |
|
Familial Primary Hyperparathyroidism
|
Hyperparathyroidism, Primary
|
|
Hyperparathyroidism Primary
|
Hypocalciuric Hypercalcemia, Familial, Type 1
|
|
Familial Benign Hypercalcemia
|
Familial Hyperparathyroidism
|
|
Parathyroid Enlargement
|
|
|
| Osteogenesis Imperfecta, Type I |
|
Osteogenesis Imperfecta Type I
|
OI1
|
|
Oi, Type I
|
Osteogenesis Imperfecta Tarda
|
|
Osteogenesis Imperfecta With Blue Sclerae
|
Osteogenesis Imperfecta Type 1
|
|
Adair-Dighton Syndrome
|
Mild Osteogenesis Imperfecta
|
|
Non-Deforming Osteogenesis Imperfecta
|
Oi Type 1
|
|
Van Der Hoeve Syndrome
|
Classic Non-Deforming Oi With Blue Sclerae
|
|
Osteogenesis Imperfecta 1
|
Oi-I
|
|
Osteopenic Non-Fracture Syndrome
|
Osteogenesis Imperfecta, Mild
|
|
Osteogenesis Imperfecta
|
Lobstein'S Disease
|
|
|
| Osteogenesis Imperfecta, Type Iv |
|
Osteogenesis Imperfecta Type 4
|
Osteogenesis Imperfecta Type Iv
|
|
OI4
|
Oi, Type Iv
|
|
Osteogenesis Imperfecta With Normal Sclerae
|
Oi Type Iv
|
|
Oi Type 4
|
Osteogenesis Imperfecta With Normal Sclera
|
|
Common Variable Oi With Normal Sclerae
|
Osteogenesis Imperfecta 4
|
|
Oi-Iv
|
|
|
| Mineral Metabolism Disease |
|
Mineral Metabolism Disorder
|
Disorder Of Mineral Metabolism
|
|
|
| Spondyloarthropathy |
|
Spondylarthropathies
|
Spondarthropathy
|
|
Spondylarthrosis
|
Spondyloarthropathy, Susceptibility To
|
|
Spondylarthritis
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Diabetes Mellitus |
|
|
| Breast Adenocarcinoma |
|
Mammary Adenocarcinoma
|
Adenocarcinoma Of Breast
|
|
|
| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
|
Sdty1
|
Zygodactyly
|
|
Syndactyly, Type I
|
Sd1
|
|
Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
|
Non-Syndromic Syndactyly
|
Symphalangy
|
|
Webbing Of Digits
|
Syndactyly, Type 1
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
