| 疾病名称 |
别名 |
|
| Osteopetrosis, Autosomal Dominant 2 |
|
OPTA2
|
Autosomal Dominant Osteopetrosis 2
|
|
Osteopetrosis Autosomal Dominant Type 2
|
Osteopetrosis, Autosomal Dominant, Type Ii
|
|
Albers-Schonberg Osteopetrosis
|
Autosomal Dominant Albers-Schonberg Disease
|
|
Osteopetrosis
|
Marble Bones, Autosomal Dominant
|
|
Osteosclerosis Fragilis Generalisata
|
Albers-Schonberg Disease, Autosomal Dominant
|
|
Autosomal Dominant Osteopetrosis Type Ii
|
Albers-Schönberg Osteopetrosis
|
|
Autosomal Dominant Osteopetrosis Type 2
|
Marble Disease Autosomal Dominant
|
|
Osteopetrosis, Autosomal Dominant, Type 2
|
|
|
| Osteopetrosis, Autosomal Recessive 4 |
|
Autosomal Recessive Osteopetrosis 4
|
OPTB4
|
|
Infantile Malignant Osteopetrosis 2
|
Osteopetrosis, Infantile Malignant 2
|
|
Osteopetrosis, Autosomal Recessive, Type 4
|
|
|
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
HOD
|
Hypertrophic Olivary Degeneration
|
|
|
| Osteopetrosis |
|
Marble Bone Disease
|
Albers-Schonberg Disease
|
|
Osteopetroses
|
Marble Bones
|
|
Osteopetrosis And Related Disorders
|
Congenital Osteopetrosis
|
|
Marble Bone
|
Albers-Schoenberg Disease
|
|
Albers-Schonberg Osteopetrosis
|
Osteosclerosis Fragilis
|
|
Ivory Bones
|
|
|
| Autosomal Recessive Malignant Osteopetrosis |
|
Infantile Malignant Osteopetrosis
|
|
|
| Osteopetrosis, Autosomal Recessive 6 |
|
OPTB6
|
Autosomal Recessive Osteopetrosis 6
|
|
Autosomal Recessive Osteopetrosis Intermediate Form
|
Osteopetrosis, Autosomal Recessive, Intermediate Form
|
|
Osteopetrosis Autosomal Recessive 6
|
Autosomal Recessive Osteopetrosis Type 6
|
|
Osteopetrosis Autosomal Recessive Intermediate Form
|
Intermediate Osteopetrosis
|
|
Autosomal Recessive Intermediate Osteopetrosis
|
Osteopetrosis, Autosomal Recessive, Type 6
|
|
|
| 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
|
|
|
| Clcn7-Related Osteopetrosis |
|
|
| Osteopetrosis, Autosomal Recessive 2 |
|
OPTB2
|
Autosomal Recessive Osteopetrosis 2
|
|
Osteopetrosis, Mild Autosomal Recessive Form
|
Osteoclast-Poor Osteopetrosis
|
|
Osteopetrosis, Osteoclast-Poor
|
Mild Autosomal Recessive Form Osteopetrosis
|
|
Osteopetrosis Autosomal Recessive 2
|
Autosomal Recessive Osteopetrosis Type 2
|
|
Osteopetrosis Osteoclast-Poor
|
Osteopetrosis, Autosomal Recessive, Type 2
|
|
|
| Osteopetrosis, Autosomal Recessive 5 |
|
OPTB5
|
Autosomal Recessive Osteopetrosis 5
|
|
Infantile Malignant Osteopetrosis 3
|
Osteopetrosis, Infantile Malignant 3
|
|
Osteopetrosis Autosomal Recessive 5
|
Osteopetrosis And Infantile Neuroaxonal Dystrophy
|
|
Autosomal Recessive Osteopetrosis Type 5
|
Osteopetrosis Infantile Malignant 3
|
|
Osteopetrosis, Autosomal Recessive, Type 5
|
|
|
| Osteopetrosis, Autosomal Recessive 1 |
|
OPTB1
|
Autosomal Recessive Osteopetrosis 1
|
|
Autosomal Recessive Albers-Schonberg Disease
|
Infantile Malignant Osteopetrosis
|
|
Osteopetrosis, Infantile Malignant 1
|
Marble Bones, Autosomal Recessive
|
|
Albers-Schonberg Disease, Autosomal Recessive
|
Infantile Malignant Osteopetrosis 1
|
|
Osteopetrosis Autosomal Recessive 1
|
Autosomal Recessive Osteopetrosis Type 1
|
|
Marble Bones Autosomal Recessive
|
Osteopetrosis Infantile Malignant 1
|
|
Osteopetrosis, Autosomal Recessive, Type 1
|
|
|
| Beach Ear |
|
Acute Swimmer'S Ear
|
Acute Bacterial Inflammation Of External Ear
|
|
Acute Otitis Externa, Diffuse
|
Acute Swimmers' Ear
|
|
Tank Ear
|
|
|
| Osteopetrosis, Autosomal Recessive 7 |
|
OPTB7
|
Autosomal Recessive Osteopetrosis 7
|
|
Autosomal Recessive Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia
|
Autosomal Recessive Osteopetrosis Type 7
|
|
Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia
|
Osteopetrosis-Hypogammaglobulinemia Syndrome
|
|
Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia
|
Osteopetrosis Autosomal Recessive 7
|
|
Osteopetrosis Osteoclast-Poor With Hypogammaglobulinemia
|
Osteopetrosis, Autosomal Recessive, Type 7
|
|
|
| Pycnodysostosis |
|
Pyknodysostosis
|
PKND
|
|
Pycd
|
Toulouse-Lautrec Syndrome
|
|
|
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis With Renal Tubular Acidosis
|
Marble Brain Disease
|
|
OPTB3
|
Guibaud-Vainsel Syndrome
|
|
Carbonic Anhydrase Ii Deficiency
|
Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis
|
|
Autosomal Recessive Osteopetrosis 3
|
Carbonic Anhydrase 2 Deficiency
|
|
Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis
|
Osteopetrosis Autosomal Recessive 3
|
|
Autosomal Recessive Osteopetrosis Type 3
|
Guibaud Vainsel Syndrome
|
|
Mixed Rta
|
Mixed Renal Tubular Acidosis
|
|
Renal Tubular Acidosis Type 3
|
Carbonic Anhydrase Ii Deficiency Syndrome
|
|
Carbonic Anhydrase Ii Variant
|
Osteopetrosis, Autosomal Recessive, Type 3
|
|
Carbonic Anhydrase 2
|
|
|
| Osteopetrosis, Autosomal Dominant 1 |
|
OPTA1
|
Autosomal Dominant Osteopetrosis 1
|
|
Autosomal Dominant Osteopetrosis Type 1
|
Osteopetrosis Autosomal Dominant Type 1
|
|
Osteopetrosis, Autosomal Dominant, Type I
|
Osteopetrosis, Autosomal Dominant, Type 1
|
|
|
| Axial Osteomalacia |
|
Atypical Osteomalacia Involving The Axial Skeleton
|
|
|
| Dent Disease 1 |
|
Dent Disease
|
Dent'S Disease
|
|
Dent Disease 2
|
Dent Disease Type 1
|
|
DENT1
|
Urolithiasis, Hypercalciuric, X-Linked
|
|
Nephrolithiasis 2
|
Nphl2
|
|
Dent Syndrome
|
Dents Disease
|
|
Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis
|
Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
|
|
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets
|
X-Linked Recessive Nephrolithiasis
|
|
Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones
|
Nephrolithiasis, Hypercalciuric, X-Linked
|
|
Nephrolithiasis-Hypercalciuria X-Linked Recessive
|
Nephrolithiasis, X-Linked Recessive
|
|
Dent Disease, Type 1
|
|
|
| Myotonia Congenita |
|
Congenital Myotonia, Autosomal Dominant Form
|
Congenital Myotonia
|
|
Thomsen And Becker Disease
|
Thomsen Disease
|
|
Thomsen'S Disease
|
Generalized Myotonia Of Thomsen
|
|
Congenital Myotonic Muscular Dystrophy
|
Myotonia Congenita Nos
|
|
|
| Nephrocalcinosis |
|
Hypercalcemic Nephropathy
|
|
|
| Bone Disease |
|
Bone Diseases
|
Skeletal Disease
|
|
Skeletal Disorder
|
Disorder Of Skeletal System
|
|
|
| Osteopetrosis, Autosomal Recessive 8 |
|
Autosomal Recessive Osteopetrosis 8
|
OPTB8
|
|
Osteopetrosis, Autosomal Recessive, Type 8
|
|
|
| Dental Abscess |
|
|
| Leopard Syndrome 2 |
|
LPRD2
|
Noonan Syndrome With Multiple Lentigines 2
|
|
Leopard Syndrome, Type 2
|
|
|
| Fibrogenesis Imperfecta Ossium |
|
|
| 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
|
|
|
| Multiple Cranial Nerve Palsy |
|
Multiple Cranial Nerve Palsies
|
|
|
| Melorheostosis |
|
Candle Wax Disease
|
Flowing Hyperostosis
|
|
Hyperostosis, Monomelic
|
Leri Syndrome
|
|
Leri'S Disease
|
Melorheostoses
|
|
Melorheostosis Of Leri
|
Melorheostosis, Isolated
|
|
Periostitis
|
Monomelic
|
|
Rheostosis
|
|
|
| Mucolipidosis Iv |
|
Mucolipidosis Type Iv
|
ML4
|
|
Sialolipidosis
|
Mucolipidosis Type 4
|
|
Ganglioside Sialidase Deficiency
|
Mliv
|
|
Ml Iv
|
Berman Syndrome
|
|
Ganglioside Neuraminidase Deficiency
|
Ml 4
|
|
Mucolipidosis 4
|
Type Iv Mucolipidosis
|
|
Gangliosidoses
|
|
|
| Bone Remodeling Disease |
|
|
| Bartter Disease |
|
Bartter Syndrome
|
Bartter'S Syndrome
|
|
Aldosteronism With Hyperplasia Of The Adrenal Cortex
|
Hypokalemic Alkalosis With Hypercalciuria
|
|
Potassium Wasting
|
Juxtaglomerular Hyperplasia With Secondary Aldosteronism
|
|
Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria
|
Salt-Losing Tubular Disorder, Henle'S Loop Type
|
|
Salt-Wasting Tubulopathy, Henle'S Loop Type
|
Bartters Syndrome
|
|
|
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic Rickets
|
X-Linked Recessive Hypophosphatemic Rickets
|
|
XLRHR
|
Hypophosphatemic Rickets Disorders
|
|
Rickets Hypophosphatemic
|
Rickets, Hypophosphatemic, X-Linked Recessive
|
|
Familial Hypophosphatemic Rickets
|
|
|
| Mucolipidosis |
|
|
| 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
|
|
|
| Neuronal Ceroid Lipofuscinosis |
|
Hereditary Ceroid Lipofuscinosis
|
Batten Disease
|
|
Ncl
|
Neuronal Ceroid-Lipofuscinoses
|
|
Lipofuscinosis, Ceroid, Neuronal
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Cerebromacular Dystrophy
|
Cerebromacular Degeneration
|
|
Ceroid-Lipofuscinosis
|
Ncl - [Neuronal Ceroid Lipofuscinosis]
|
|
Amaurotic Familial Idiocy
|
Amaurotic Idiocy
|
|
Amaurotic Idiot
|
Neuronal Lipofuscinosis
|
|
Pigmentary Retinal Lipoid Neuronal Heredodegeneration
|
|
|
| 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
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
