| 疾病名称 |
别名 |
|
| 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
|
|
|
| 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
|
|
|
| Rickets |
|
Vitamin D Deficiency
|
Vitamin D
|
|
Active Rickets
|
Hypovitaminosis D
|
|
Nutritional Rickets
|
Vitamin D Deficiency Disease
|
|
Vitamin-D Deficiency Rickets
|
Vitamin D-Dependent Rickets
|
|
Avitaminosis D
|
Infantile Osteomalacia
|
|
Juvenile Osteomalacia
|
|
|
| Hypophosphatemia |
|
Vitamin D-Resistant Rickets
|
Hereditary Hypophosphatemic Rickets
|
|
Vdrr
|
Vitamin D Resistant Rickets
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Familial Hypophosphatemic Rickets
|
|
|
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Autosomal Dominant Hypophosphatemic Rickets
|
ADHR
|
|
Autosomal Dominant Hypophosphatemia
|
Vitamin D-Resistant Rickets, Autosomal Dominant
|
|
Hypophosphatemia, Autosomal Dominant
|
Autosomal Dominant Vitamin D-Resistant Rickets
|
|
Rickets, Hypophosphatemic, Autosomal Dominant
|
|
|
| Osteomalacia |
|
|
| Enthesopathy |
|
|
| Vitamin D-Dependent Rickets, Type 2a |
|
Hvdrr
|
Generalized Resistance To 1,25-Dihydroxyvitamin D
|
|
Hypocalcemic Vitamin D-Resistant Rickets
|
VDDR2A
|
|
Rickets, Hereditary Vitamin D-Resistant
|
Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol
|
|
Pddr Iia
|
Rickets-Alopecia Syndrome
|
|
Rickets, Vitamin D-Resistant, Type Iia
|
Vitamin D-Dependent Rickets Type 2a
|
|
Vitamin D-Dependent Rickets, Type 2
|
Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia
|
|
Generalized 1,25-Dihydroxyvitamin D
|
Pseudovitamin D-Deficiency, Type Iia
|
|
Hereditary Vitamin D-Resistant Rickets
|
Vddr Ii
|
|
Vdrr Ii
|
Vitamin D-Dependent Rickets Type Ii
|
|
Vitamin D-Resistant Rickets Type Ii
|
Rickets Vitamin D-Dependent 2a
|
|
Pseudovitamin D-Deficiency Type Iia
|
Rickets Hereditary Vitamin D-Resistant
|
|
Type Iia Rickets
|
Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia
|
|
Vitamin D-Dependent Rickets, Type Ii
|
Familial Hypophosphatemic Rickets
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
|
|
| Dental Abscess |
|
|
| Arterial Calcification Of Infancy |
|
Idiopathic Infantile Arterial Calcification
|
Generalized Arterial Calcification Of Infancy
|
|
Iiac
|
Occlusive Infantile Arteriopathy
|
|
Infantile Arteriosclerosis
|
Gaci
|
|
Idiopathic Obliterative Arteriopathy
|
Generalized Arterial Calcification In Infancy
|
|
Arteriopathia Calcificans Infantum
|
Diffuse Arterial Calcifying Elastopathy Of Infancy
|
|
Infantile Calcifying Arteriopathy
|
Medial Coronary Sclerosis Of Infancy
|
|
Coronary Sclerosis, Medial, Of Infancy
|
Calcification, Arterial, Generalized, Infancy
|
|
|
| Hypophosphatasia |
|
Phosphoethanolaminuria
|
Childhood Hypophosphatasia
|
|
Deficiency Of Alkaline Phosphatase
|
Hypophospatasia, Childhood
|
|
Hypophosphatasia Mild
|
Phosphoethanol-Aminuria
|
|
Rathburn Disease
|
Hpp
|
|
Rathbun Disease
|
Hypophosphatasia, Childhood
|
|
Infantile Hypophosphatasia
|
|
|
| Acute Gonococcal Cervicitis |
|
Gonococcal Cervicitis
|
Acute Gonorrhea Of Cervix
|
|
|
| Acute Cervicitis |
|
|
| Hyperparathyroidism |
|
Hyperparathyroidism And Other Disorders Of Parathyroid Gland
|
Parathyroid Hyperfunction
|
|
Hpth - [Hyperparathyroidism]
|
Parathyroid Gland Hyperfunction
|
|
Parathyroid Glandular Hyperfunction
|
|
|
| Autosomal Recessive Hypophosphatemic Rickets |
|
Arhr
|
Hypophosphatemic Rickets, Autosomal Recessive
|
|
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
|
|
|
| Phosphorus Metabolism Disease |
|
Phosphorus Metabolism Disorders
|
Disorder Of Phosphorus Metabolism
|
|
Phosphorus Disorder
|
Phosphorus Metabolism Disorder
|
|
|
| Calcinosis |
|
Pathologic Calcification
|
Pathologically Calcified Structure
|
|
|
| Hyperphosphatemia |
|
|
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hereditary Hypophosphatemic Rickets With Hypercalciuria
|
HHRH
|
|
Hypophosphatemic Rickets With Hypercalciuria
|
Hypercalciuric Rickets
|
|
|
| Craniosynostosis |
|
Premature Closure Of Cranial Sutures
|
Craniostenosis
|
|
Craniosynostosis Syndrome
|
Cso
|
|
Craniosynostoses
|
Congenital Ossification Of Cranial Sutures
|
|
Congenital Ossification Of Sutures Of Skull
|
Craniostosis
|
|
Imperfect Fusion Of Skull
|
Congenital Imperfect Closure Skull
|
|
Imperfect Closure Skull
|
Premature Closure Cranium Sutures
|
|
Deficiency Of Craniofacial Axis
|
|
|
| Peroxisome Biogenesis Disorder 1b |
|
Peroxisome Biogenesis Disorder
|
Infantile Refsum Disease
|
|
Infantile Phytanic Acid Storage Disease
|
PBD1B
|
|
Refsum Disease, Infantile
|
Adrenoleukodystrophy, Autosomal Neonatal
|
|
Ird
|
Mild Pbd-Zsd
|
|
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
Pbd-Zsd
|
|
Peroxisome Biogenesis Disorder Spectrum
|
Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
Autosomal Neonatal Adrenoleukodystrophy
|
Refsum Disease Infantile
|
|
Peroxisome Biogenesis Disorders
|
Peroxisome Biogenesis Disorder, Type 1b
|
|
|
| Nephrocalcinosis |
|
Hypercalcemic Nephropathy
|
|
|
| Osteoglophonic Dysplasia |
|
Osteoglophonic Dwarfism
|
OGD
|
|
Fairbank-Keats Syndrome
|
Osteoglosphonic Dysplasia
|
|
Dysplasia, Osteoglophonic
|
|
|
| Mineral Metabolism Disease |
|
Mineral Metabolism Disorder
|
Disorder Of Mineral Metabolism
|
|
|
| Fanconi Renotubular Syndrome 2 |
|
FRTS2
|
Fanconi Renotubular Syndrome, Type 2
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| Basidiobolomycosis |
|
Infection By Basidiobolus
|
Subcutaneous Mucoromycosis Due To Basidiobolus Ranarum
|
|
|
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Metaphyseal Chondrodysplasia, Murk Jansen Type
|
Jansen'S Metaphyseal Chondrodysplasia
|
|
MCDJ
|
Murk Jansen Type Metaphyseal Chondrodysplasia
|
|
Jansen Type Metaphyseal Chondrodysplasia
|
Jansen Disease
|
|
Jansen Metaphyseal Chondrodysplasia
|
Jansen Metaphyseal Dysostosis
|
|
Metaphyseal Chondrodysplasia Murk Jansen Type
|
Chondrodysplasia, Metaphyseal, Murk Jansen Type
|
|
|
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemic Familial Tumoral Calcinosis
|
Hftc
|
|
Hyperostosis-Hyperphosphatemia Syndrome
|
Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome
|
|
Tumoral Calcinosis, Hyperphosphatemic, Familial
|
Phptc
|
|
Lipocalcinogranulomatosis
|
Morbus Teutschlaender
|
|
Hhs
|
Hyperostosis With Hyperphosphatemia
|
|
Cortical Hyperostosis With Hyperphosphatemia
|
Primary Hyperphosphatemic Tumoral Calcinosis
|
|
Familial Tumoral Calcinosis
|
HFTC1
|
|
Hypercalcemic Tumoral Calcinosis
|
Hyperphosphatemia Hyperostosis
|
|
Hyperphosphatemia Hyperostosis Syndrome
|
Hyperphosphatemia Tumoral Calcinosis
|
|
Tumoral Calcinosis
|
Calcinosis, Tumoral, With Hyperphosphatemia
|
|
Tumoral Calcinosis, Primary Hyperphosphatemic
|
Teutschlaender Disease, Familial
|
|
Familial Teutschlaender Disease
|
Tumoral Calcinosis With Hyperphosphatemia
|
|
Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome
|
Ftc/Hhs
|
|
Familial Tumoral Calcinosis With Hyperphosphatemia
|
Teutschlaender Disease
|
|
Tumoral Calcinosis Primary Hyperphosphatemic
|
Calcinosis, Tumoral, Hyperphosphatemic, Familial
|
|
|
| Vitamin D-Dependent Rickets |
|
|
| Vitamin D Hydroxylation-Deficient Rickets, Type 1a |
|
Vitamin D-Dependent Rickets, Type 1a
|
Vitamin D-Dependent Rickets, Type 1
|
|
VDDR1A
|
25-Hydroxycholecalciferol-1-Hydroxylase Deficiency
|
|
1-Alpha-Hydroxylase Deficiency
|
Vdd1
|
|
Pddr1a
|
Pddr Ia
|
|
Vitamin D-Dependent Rickets, Type I
|
Vitamin D-Dependent Rickets Type 1a
|
|
1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective
|
Vitamin D Dependency, Type 1
|
|
Pseudovitamin D-Deficiency Rickets, Type Ia
|
Rickets Vitamin D-Dependent 1a
|
|
1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective
|
Pddr
|
|
Pseudovitamin D Deficiency Rickets
|
Pseudovitamin D-Deficiency Rickets Type Ia
|
|
Vitamin D Dependency Type 1
|
|
|
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemic Nephrolithiasis/Osteoporosis 1
|
NPHLOP1
|
|
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
|
Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
|
|
|
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Nevus Sebaceus Of Jadassohn
|
Organoid Nevus Phakomatosis
|
|
Linear Nevus Sebaceous Syndrome
|
Sfm Syndrome
|
|
Jadassohn Nevus Phakomatosis
|
Jnp
|
|
Schimmelpenning Syndrome
|
Solomon Syndrome
|
|
SFM
|
Linear Sebaceous Nevus Syndrome
|
|
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic
|
Nevus Sebaceus Syndrome
|
|
Organoid Nevus Syndrome
|
Schimmelpenning Feuerstein Mims Syndrome
|
|
Sebaceous Nevus Syndrome, Linear
|
Epidermal Nevus Syndrome, Formerly
|
|
Sebaceous Nevus Syndrome Linear
|
Linear Nevus Sebaceus Syndrome
|
|
Epidermal Nevus Syndrome
|
Ss
|
|
Nevus Sebaceous
|
|
|
| Bone Disease |
|
Bone Diseases
|
Skeletal Disease
|
|
Skeletal Disorder
|
Disorder Of Skeletal System
|
|
|
| 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
|
|
|
| Bone Remodeling Disease |
|
|
| 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
|
|
|
| Peroxisomal Biogenesis Disorder |
|
Zellweger Spectrum Disorders
|
Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
|
|
Disorders Of Peroxisome Biogenesis
|
Zellweger Spectrum
|
|
Zellweger Syndrome Spectrum
|
Peroxisomal Biogenesis Disorders
|
|
Pbd, Zss
|
Pbd-Zsd
|
|
Pbd-Zss
|
Pbd-Zellweger Spectrum Disorder
|
|
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum
|
Peroxisome Biogenesis Disorder
|
|
Peroxisome Biogenesis Disorder Spectrum
|
Peroxisome Biogenesis Disorders
|
|
Zellweger Spectrum Disorder
|
Hyperpipecolic Acidaemia
|
|
|
| Suppurative Periapical Periodontitis |
|
Periapical Abscess
|
Apical Abscess
|
|
Suppurative Apical Periodontitis
|
Dentoalveolar Abscess
|
|
Dental Abscess With Sinus
|
Dentoalveolar Abscess With Sinus
|
|
Dental Sinus
|
Periapical Abscess Fistula
|
|
Apical Tooth Abscess
|
Apex Abscess
|
|
Dental Abscess Nos
|
Infection Of Tooth Nos
|
|
Abscess Of Tooth
|
Dental Infection Nos
|
|
|
| Hypophosphatemic Nephrolithiasis/Osteoporosis |
|
Nephrolithiasis/Osteoporosis, Hypophosphatemic
|
|
|
| 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
|
|
|
| Parathyroid Gland Disease |
|
Parathyroid Diseases
|
Disease Of Parathyroid Glands
|
|
Parathyroid Disease
|
|
|
| Nevus, Epidermal |
|
Epidermal Nevus
|
Woolly Hair Nevus
|
|
Epidermal Naevus
|
Epidermal Nevus Syndrome
|
|
Nevus, Keratinocytic, Nonepidermolytic
|
Epidermal Nevus, Somatic
|
|
Nevus, Epidermal, Somatic
|
Nevus Sebaceous Or Woolly Hair Nevus, Somatic
|
|
Nonepidermolytic Keratinocytic Nevus
|
Epidermal Hamartoma Syndrome
|
|
Wooly Hair Nevus
|
Keratinocytic Non-Epidermolytic Nevus
|
|
KNEN
|
Pigmented Moles
|
|
Organoid Nevus Phakomatosis
|
Nevus Sebaceous
|
|
Melanocytic Nevus
|
Melanocytic Nevus Of Skin
|
|
|
| Syndromic X-Linked Intellectual Disability Snyder Type |
|
Snyder-Robinson Syndrome
|
Mental Retardation, X-Linked, Snyder-Robinson Type
|
|
Spermine Synthase Deficiency
|
Srs
|
|
Snyder-Robinson Mental Retardation Syndrome
|
X-Linked Intellectual Disability Snyder-Robinson Type
|
|
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type
|
Snyder-Robinson X-Linked Mental Retardation Syndrome
|
|
|
| Peripheral Vertigo |
|
|
| Metaphyseal Dysplasia |
|
Bakwin-Krida Syndrome
|
Pyle'S Disease
|
|
Pyle-Cohn Syndrome
|
|
|
| Peroxisomal Disease |
|
Peroxisomal Disorder
|
Peroxisomal Disorders
|
|
Peroxisomal Defects
|
|
|
| Fanconi Syndrome |
|
Infantile Nephropathic Cystinosis
|
Adult Fanconi Syndrome
|
|
Congenital Fanconi Syndrome
|
De Toni-Fanconi Syndrome
|
|
Fanconi-De Toni Syndrome
|
Lignac-Fanconi Syndrome
|
|
Fanconi Renotubular Syndrome
|
Primary Fanconi Renotubular Syndrome
|
|
De Toni-Debre-Fanconi Syndrome
|
Adult Fanconi Anemia
|
|
Detoni Fanconi Syndrome
|
Fanconi-De-Toni Syndrome
|
|
Primary Fanconi Syndrome
|
Detoni-Debre-Fanconi Syndrome
|
|
Primary Fanconi Renal Syndrome
|
Fanconi Anemia
|
|
Cystinosis, Infantile Nephropathic
|
Fanconi-Bickel Syndrome
|
|
Renal Fanconi Syndrome
|
Lowe-Bickel Syndrome
|
|
|
| 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
|
|
|
