Diseases |
Alias |
|
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
Spondylometaphyseal Dysplasia
|
Strudwick Syndrome
|
Dappled Metaphysis Syndrome
|
Semd, Strudwick Type
|
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
|
Smed, Strudwick Type
|
Smd
|
Smed Strudwick Type
|
SEMDSTWK
|
Smed, Type I
|
Semdc
|
Smed Type 1
|
Spondyloepimetaphyseal Dysplasia Strudwick Type
|
Sed Strudwick
|
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
|
Smed Type I
|
Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses
|
Dysplasia, Spondyloepimetaphyseal, Strudwick Type
|
Dysplasia, Spondylometaphyseal
|
|
|
Kniest Dysplasia |
Kniest Syndrome
|
Metatropic Dwarfism, Type Ii
|
Kniest Chondrodystrophy
|
Metatropic Dysplasia Type Ii
|
Swiss Cheese Cartilage Dysplasia
|
KD
|
Ks
|
Metatropic Dwarfism Type Ii
|
Dysplasia, Kniest
|
|
|
Stickler Syndrome, Type I |
Stickler Syndrome 1
|
Stickler Syndrome Type 1
|
STL1
|
Aom
|
Stickler Syndrome, Type 1
|
Stickler Syndrome, Vitreous Type 1
|
Stickler Syndrome, Membranous Vitreous Type
|
Arthroophthalmopathy, Hereditary Progressive
|
Arthro-Ophthalmopathy Hereditary Progressive
|
Stickler Syndrome Membranous Vitreous Type
|
Stickler Syndrome Type I
|
Stickler Syndrome Vitreous Type 1
|
|
|
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
Multiple Epiphyseal Dysplasia, Beighton Type
|
EDMMD
|
Epiphyseal Dysplasia, Multiple, With Myopia And Deafness
|
Multiple Epiphyseal Dysplasia With Myopia And Deafness
|
Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome
|
Multiple Epiphyseal Dysplasia-Myopia-Hearing Loss Syndrome
|
Multiple Epiphyseal Dysplasia With Myopia And Conductive Deafness
|
Dysplasia, Epiphyseal, Multiple, With Myopia And Deafness
|
|
|
Spondyloepiphyseal Dysplasia Congenita |
SEDC
|
Sed Congenita
|
Spondyloepiphyseal Dysplasia, Congenital Type
|
Late Spondyloepiphyseal Dysplasia
|
Sed, Congenital Type
|
Congenital Spondyloepiphyseal Dysplasia
|
Spranger-Wiedemann Disease
|
Spondyloepiphyseal Dysplasia Congenital Type
|
Dysplasia, Spondyloepiphyseal, Congenita
|
Spondyloepiphyseal Dysplasia, Congenita
|
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
|
|
Achondrogenesis, Type Ii |
Achondrogenesis Type Ii
|
ACG2
|
Achondrogenesis, Langer-Saldino Type
|
Achondrogenesis Type 2
|
Chondrogenesis Imperfecta
|
Achondrogenesis, Type Ib, Formerly
|
Achondrogenesis, Type Ii Or Hypochondrogenesis
|
Achondrogenesis 2
|
Acg-Ii
|
Achondrogenesis-Hypochondrogenesis Type Ii
|
Achondrogenesis Langer-Saldino Type
|
Achondrogenesis-Hypochondrogenesis, Type Ii
|
Hypochondrogenesis
|
|
|
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
PLSD-T
|
PLSDT
|
Platyspondylic Dysplasia, Torrance Type
|
Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type
|
Thanatophoric Dysplasia, Torrance Variant
|
Platyspondylic Skeletal Dysplasia, Torrance Type
|
Torrance Type Platyspondylic Dysplasia
|
Platyspondylic Dysplasia, Torrance-Luton Type
|
Platyspondylic Lethal Skeletal Dysplasia Torrance Type
|
Lethal Short-Limbed Platyspondylic Dwarfism Torrance Type
|
Thanatophoric Dysplasia Torrance Variant
|
Platyspondylic Chondrodysplasia, Torrance-Luton Type
|
Plsd-Tl
|
Dysplasia, Skeletal, Platyspondylic, Torrance Type
|
|
|
Spondyloepiphyseal Dysplasia, Stanescu Type |
SEDSTN
|
Sed, Stanescu Type
|
Spondyloepiphyseal Dysplasia Stanescu Type
|
Sed Stanescu Type
|
|
|
Czech Dysplasia |
Czech Dysplasia, Metatarsal Type
|
Spondyloepiphyseal Dysplasia With Precocious Osteoarthritis
|
Czech Dysplasia Metatarsal Type
|
Sed With Metatarsal Shortening
|
Spondyloepiphyseal Dysplasia With Metatarsal Shortening
|
Pseudorheumatoid Dysplasia, Progressive, With Hypoplastic Toes
|
Pseudorheumatoid Dysplasia Progressive, With Hypoplastic Toes
|
Progressive Pseudorheumatoid Dysplasia With Hypoplastic Toes
|
Spondyloarthropathy With Short Third And Fourth Toes
|
CZECHD
|
Pseudorheumatoid Dysplasia Progressive With Hypoplastic Toes
|
Dysplasia, Czech
|
|
|
Osteoarthritis With Mild Chondrodysplasia |
Namaqualand Hip Dysplasia
|
OSCDP
|
Nhd
|
Mild Spondyloepiphyseal Dysplasia Due To Col2a1 Mutation With Early-Onset Osteoarthritis
|
Osteoarthritis, With Mild Chondrodysplasia
|
Degenerative Polyarthritis
|
|
|
Legg-Calve-Perthes Disease |
Perthes Disease
|
LCPD
|
Coxa Plana
|
Legg-Perthes Disease
|
Juvenile Osteochondrosis Of Hip And Pelvis
|
Pseudocoxalgia
|
Legg-Calvé-Perthes Disease
|
Lcp
|
Calve - Perthes' Disease
|
Juvenile Osteochond-Hip/Pelvis
|
Juvenile Osteochondrosis Of Hip And/Or Pelvis
|
Legg-Calve-Perthes Symptom
|
Osteochondrosis Of Legg-Calve-Perthes
|
Perthe'S Disease
|
Legg-Calve-Perthes Syndrome
|
Osteochondritis Deformans
|
Calve-Perthes Disease
|
Aseptic Necrosis Of The Capital Femoral Epiphysis
|
Osteochondrosis Of The Capital Femoral Epiphysis
|
Legg-Calvé-Perthes Syndrome
|
Avascular Necrosis Of The Capital Femoral Epiphysis
|
|
|
Stickler Syndrome, Type I, Nonsyndromic Ocular |
Autosomal Dominant Rhegmatogenous Retinal Detachment
|
Stickler Syndrome, Type I, Predominantly Ocular
|
Stickler Syndrome, Atypical
|
Rhegmatogenous Retinal Detachment Autosomal Dominant
|
DRRD
|
Stickler Syndrome 1 Non-Syndromic Ocular
|
STL1O
|
Stickler Syndrome Atypical
|
Stickler Syndrome Predominantly Ocular
|
Wagner Syndrome 2
|
Rhegmatogenous Retinal Detachment, Autosomal Dominant
|
|
|
Spondyloperipheral Dysplasia |
Spondyloperipheral Dysplasia With Short Ulna
|
Spondyloperipheral Dysplasia-Short Ulna Syndrome
|
SPD
|
Dysplasia, Spondyloperipheral
|
Spondyloperipheral Dysplasia Short Ulna
|
|
|
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
VPED
|
Vitreoretinopathy, With Phalangeal Epiphyseal Dysplasia
|
|
|
Avascular Necrosis Of Femoral Head, Primary, 1 |
ANFH1
|
Ischemic Necrosis Of Femoral Head
|
Osteonecrosis Of Femoral Head
|
Femoral Head, Avascular Necrosis Of
|
Anfh
|
Femoral Head, Aseptic Necrosis Of
|
Avascular Necrosis Of The Femoral Head
|
Aseptic Necrosis Of Femoral Head
|
Avascular Necrosis Of Femoral Head
|
Necrosis, Avascular, Femoral Head
|
Avascular Necrosis Of Femur Head
|
Femur Head Necrosis
|
|
|
Familial Avascular Necrosis Of The Femoral Head |
Familial Osteonecrosis Of The Femoral Head
|
Primary Avascular Necrosis Of The Femoral Head
|
Familial Avascular Necrosis Of Femoral Head
|
Avascular Necrosis Of Femoral Head, Primary
|
|
|
Hypochondrogenesis |
Achondrogenesis Type Ii/Hypochondrogenesis
|
|
|
Stickler Syndrome |
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
Retinal Detachment |
Retinal Detachments
|
Rhegmatogenous Retinal Detachment
|
Ruptured Retina With Detachment
|
Retinal Hole With Detachment
|
|
|
Type Ii Collagen Disorders |
Collagenopathy Type 2 Alpha 1
|
Col2a1
|
Cartilage Collagen
|
Collagen Ii
|
Collagenopathy, Type 2 Alpha 1
|
|
|
Type 2 Collagen-Related Bone Disorder |
|
|
Spondylometaphyseal Dysplasia, Algerian Type |
Spondylometaphyseal Dysplasia With Severe Genu Valgum
|
Spondylometaphyseal Dysplasia, Schmidt Type
|
Spondylometaphyseal Dysplasia Algerian Type
|
Japanese Type Spondylometaphyseal Dysplasia
|
Schmid Metaphyseal Dysostosis
|
Spondylometaphyseal Dysplasia Schmidt Type
|
Metaphyseal Chondrodysplasia Schmid Type
|
|
|
Dysspondyloenchondromatosis |
|
|
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
Weissenbacher-Zweymuller Syndrome
|
Wzs
|
Pierre Robin Syndrome With Fetal Chondrodysplasia
|
OSMEDA
|
Weissenbacher-Zweymüller Syndrome
|
Heterozygous Osmed
|
Stickler Syndrome, Type 3
|
Osmed, Heterozygous
|
Pierre Robin Syndrome With Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly
|
Stickler Syndrome, Type Iii, Formerly
|
Stl3, Formerly
|
Piere-Robin Syndrome
|
Pierre Robin Malformation
|
Heterozygous Otospondylomegaepiphyseal Dysplasia
|
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
|
Ad Osmed
|
Stickler Syndrome Type 3
|
Stickler Syndrome, Non-Ocular Type
|
Stickler-Like Syndrome
|
Stickler Syndrome 3
|
Stickler Syndrome Non-Ocular Type
|
Stickler Syndrome Type Iii
|
Stl3
|
Weissenbacher-Zweymueller Syndrome
|
Stickler Syndrome, Type Iii
|
Pierre Robin Syndrome
|
Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant
|
|
|
Connective Tissue Disease |
Connective Tissue Diseases
|
Connective Tissue Disorder
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
Connective Tissue Disorders
|
|
|
Myopia |
Near-Sightedness
|
Short-Sightedness
|
Nearsightedness
|
Nearsighted
|
Near Vision
|
Close Sighted
|
Myopic
|
Short-Sighted
|
Near Sighted
|
|
|
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
Osmed
|
Otospondylomegaepiphyseal Dysplasia
|
Chondrodystrophy With Sensorineural Deafness
|
Nance-Insley Syndrome
|
Nance-Sweeney Chondrodysplasia
|
OSMEDB
|
Insley-Astley Syndrome
|
Osmed Syndrome
|
Mega-Epiphyseal Dwarfism
|
Weissenbacher-Zweymuller Syndrome, Formerly
|
Wzs, Formerly
|
Nance Sweeney Chondrodysplasia
|
Oto-Spondylo-Mega-Epiphyseal Dysplasia
|
Oto-Spondylo-Megaepiphyseal Dysplasia
|
Megaepiphyseal Dwarfism
|
|
|
Osteochondrodysplasia |
Skeletal Dysplasia
|
Chondrodystrophy
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
Primary Bone Dysplasia |
Primary Osteodysplasia
|
Primary Skeletal Dysplasia
|
|
|
Heart, Malformation Of |
|
|
Stargardt Disease 1 |
Fundus Flavimaculatus
|
STGD1
|
Retinal Dystrophy, Early-Onset Severe
|
Macular Dystrophy With Flecks, Type 1
|
Stargardt'S Disease
|
Stgd
|
Macular Degeneration, Juvenile
|
Macular Degeneration Juvenile
|
FFM
|
Juvenile Macular Degeneration
|
Macular Dystrophy With Flecks Type 1
|
Early Onset And Severe Retinal Dystrophy
|
|
|
Stargardt Disease |
Stargardt Disease 1
|
Stargardt Macular Dystrophy
|
Stargardt Disease-1
|
Juvenile Onset Macular Degeneration
|
Stargardt Macular Degeneration
|
Juvenile Macular Degeneration
|
Macular Dystrophy With Flecks, Type 1
|
Stgd
|
Fundus Flavimaculatus
|
Stargardt 1
|
Stargardts Disease
|
|
|
Heart Disease |
Heart Failure
|
Congenital Heart Disease
|
Heart Diseases
|
Congenital Heart Defects
|
Congenital Heart Defect
|
Heart Malformation
|
Congenital Anomaly Of Heart
|
Heart Defect
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
Heart Defects
|
Heart Disease, Congenital
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
Spondylometaphyseal Dysplasia, Corner Fracture Type |
SMDCF
|
Spondylometaphyseal Dysplasia, Sutcliffe Type
|
Spondylometaphyseal Dysplasia Corner Fracture Type
|
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
|
Spondylometaphyseal Dysplasia Sutcliffe Type
|
Sutcliffe Type Of Spondylometaphyseal Dysplasia
|
Spondylometaphyseal Dysplasia - Sutcliffe Type
|
Smd, Corner Fractures Type
|
Smd, Sutcliffe Type
|
Sutcliffe Smd
|
Dysplasia, Spondylometaphyseal, Corner Fracture Type
|
|
|
Fundus Dystrophy |
Retinal Dystrophy
|
Retinal Dystrophies
|
Dystrophy, Retinal
|
|
|
Achondrogenesis |
|
|
Spondyloepimetaphyseal Dysplasia |
Dysplasia, Spondyloepimetaphyseal
|
|
|
Multiple Epiphyseal Dysplasia |
Med
|
Polyepiphyseal Dysplasia
|
Edm
|
Epiphyseal Dysplasia, Multiple, 1
|
Epiphyseal Dysplasia, Multiple, 2
|
Epiphyseal Dysplasia, Multiple, 3
|
Epiphyseal Dysplasia, Multiple, 4
|
Epiphyseal Dysplasia, Multiple, 5
|
Epiphyseal Dysplasia, Multiple
|
Edm1
|
Edm2
|
Edm3
|
Edm4
|
Edm5
|
Epiphyseal Dysplasia, Fairbank Type
|
Epiphyseal Dysplasia, Ribbing Type
|
Multiple Epiphyseal Dysplasia, Autosomal Dominant
|
Multiple Epiphyseal Dysplasia, Autosomal Recessive
|
Rmed
|
Dysplasia, Epiphyseal, Multiple
|
Osteochondrodysplasias
|
|
|
Avascular Necrosis |
|
|
Multiple Enchondromatosis, Maffucci Type |
Maffucci Syndrome
|
Chondrodysplasia With Hemangioma
|
Chondroplasia Angiomatosis
|
Enchondromatosis With Hemangiomata
|
Hemangiomatosis Chondrodystrophica
|
Kast Syndrome
|
Multiple Angiomas And Endochondromas
|
Dyschondrodysplasia With Hemangiomas
|
Enchondromatosis Type Ii
|
Enchondromatosis With Multiple Cavernous Hemangiomas
|
Dyschondroplasia And Cavernous Hemangioma
|
Hemangiomata With Dyschondroplasia
|
|
|
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
|
|
|
Vitreous Syneresis |
|
|
Osteoarthritis |
Osteoarthrosis
|
Degenerative Joint Disease
|
Hypertrophic Arthritis
|
Arthropathy
|
Degenerative Polyarthritis
|
Degenerative Arthritis
|
Osteoarthrosis And Allied Disorder
|
Arthritis, Degenerative
|
Oa
|
Osteoarthritis Deformans
|
Osteoarthrosis Deformans
|
Kashin-Beck Disease
|
|
|
Osteochondrosis |
Osteochondritis
|
Apophysitis
|
Epiphysitis
|
Osteochondritis Juvenilis
|
Epiphyseal Necrosis
|
Juvenile Osteochondrosis Of Tibial Tubercle
|
|
|
Developmental Dysplasia Of The Hip 1 |
Acetabular Dysplasia
|
Developmental Dysplasia Of The Hip
|
DDH1
|
Hip Dysplasia, Developmental
|
Ddh
|
Hip Dysplasia, Congenital
|
Cdh
|
Congenital Hip Dislocation Nos
|
|
|
Diastrophic Dysplasia |
Diastrophic Dwarfism
|
DTD
|
Dd
|
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
|
Dysplasia, Diastrophic
|
Diastrophic Dysplasia Variant
|
|
|
Scoliosis |
|
|
Marshall Syndrome |
MRSHS
|
Deafness, Myopia, Cataract, Saddle Nose-Marshall Type
|
Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis
|
Pfapa Syndrome
|
Pfapa
|
Marshall Syndrome With Periodic Fever
|
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
|
|
|
Cartilage Disease |
Cartilage Diseases
|
Cartilage
|
Cartilage Disorder
|
Chondropathy
|
Cartilage Disorders
|
|
|
Collagen Disease |
Collagen Diseases
|
Collagen Disorder
|
|
|
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
Spondyloepiphyseal Dysplasia
|
Chst3-Related Skeletal Dysplasia
|
Humerospinal Dysostosis
|
Spondyloepiphyseal Dysplasia, Omani Type
|
Chondrodysplasia With Multiple Dislocations
|
SEDCJD
|
Hsd
|
Cdmd
|
Humero-Spinal Dysostosis
|
Kozlowski Celermajer Tink Syndrome
|
Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type
|
Larsen Syndrome, Recessive Type
|
Humero-Spinal Dysostosis With Congenital Heart Disease
|
Omani Type
|
Sed
|
Chst3 Deficiency
|
Chst3-Related Dysplasia
|
Recessive Larsen Syndrome
|
Autosomal Recessive Larsen Syndrome
|
Sed With Luxations, Chst3 Type
|
Sed, Omani Type
|
Sdcd, Chst3 Type
|
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type
|
Sed Omani Type
|
Spondyloepiphyseal Dysplasia Omani Type
|
Larsen Syndrome, Autosomal Recessive
|
Mucopolysaccharidosis Iv
|
Spondyloepiphyseal Dysplasia, Congenita
|
|
|
Arthritis |
Inflammatory Joint Disease
|
Inflammatory Disorder Of Joint
|
|
|
Brachydactyly |
|
|
Campomelic Dysplasia |
Acampomelic Campomelic Dysplasia
|
Camptomelic Dysplasia
|
Campomelic Dysplasia With Autosomal Sex Reversal
|
Cmpd
|
CMD1
|
Cmpd1
|
Cmpd1/Sra1
|
Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
|
Campomelic Dwarfism
|
Campomelic Syndrome
|
Dysplasia, Campomelic
|
Chronic Myeloproliferative Disorder
|
Familial Dilated Cardiomyopathy
|
|
|
Arthropathy |
Ankylosis Of Ankle And Foot Joint
|
Ankylosis Of Forearm Joint
|
Ankylosis Of Hand Joint
|
Ankylosis Of Joint Of Ankle And/Or Foot
|
Ankylosis Of Joint Of Forearm
|
Ankylosis Of Joint Of Hand
|
Ankylosis Of Joint Of Lower Leg
|
Ankylosis Of Joint Of Multiple Sites
|
Ankylosis Of Joint Of Pelvic Region And Thigh
|
Ankylosis Of Joint Of Shoulder Region
|
Ankylosis Of Joint Of Upper Arm
|
Ankylosis Of Lower Leg Joint
|
Ankylosis Of Multiple Joints
|
Ankylosis Of Upper Arm Joint
|
Infectious Arthropathy
|
Joint Ankylosis Of The Ankle And Foot
|
Joint Ankylosis Of The Ankle And/Or Foot
|
Joint Ankylosis Of The Forearm
|
Joint Ankylosis Of The Hand
|
Joint Ankylosis Of The Lower Leg
|
Joint Ankylosis Of The Pelvic Region And Thigh
|
Joint Ankylosis Of The Shoulder Region
|
Joint Ankylosis Of The Upper Arm
|
Joint Diseases
|
Joint Disease
|
Arthropathy Associated With Infection
|
|
|
Coxa Vara |
|
|
Vitreoretinopathy |
|
|
Synovitis |
|
|
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda
|
|
|
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
Autosomal Dominant Spondyloepiphyseal Dysplasia Tarda
|
|
|
Relapsing Polychondritis |
Polychondropathia
|
Polychondritis, Relapsing
|
Chondromalacia, Systemic
|
Chronic Atrophic Polychondritis
|
Recurrent Polychondritis
|
Polychondritis Relapsing
|
|
|
Bone Disease |
Bone Diseases
|
Skeletal Disease
|
Skeletal Disorder
|
Disorder Of Skeletal System
|
|
|
Spinal Stenosis |
Lumbar Spinal Stenosis
|
Cervical Spinal Stenosis
|
Spinal Stenosis Of Lumbar Region
|
Spinal Stenosis In Cervical Region
|
Spinal Canal Stenosis
|
|
|
Fibrochondrogenesis |
Fbcg1
|
Fbcg2
|
Fibrochondrogenesis-1
|
Fibrochondrogenesis-2
|
Fibrochondrogenesis 1
|
Fibrochondrogenesis 2
|
|
|
Pseudoachondroplasia |
PSACH
|
Pseudoachondroplastic Dysplasia
|
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome
|
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
|
Pseudoachondroplastic Spondyloepiphyseal Dysplasia
|
Spondyloepiphyseal Dysplasia Pseudoachondroplastic
|
|
|
Cleft Palate, Isolated |
Cleft Palate
|
Isolated Cleft Palate
|
CPI
|
Cp
|
Palatoschisis
|
Cleft Palate Isolated
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
Cleft Of Secondary Palate
|
|
|
Retinal Perforation |
Retinal Break
|
Retinal Perforations
|
Retinal Dialysis
|
Retinal Tear
|
Retinal Break Nos
|
Ruptured Retina
|
|
|
Pectus Carinatum |
Carinatum Deformity Of The Chest
|
|
|
Sensorineural Hearing Loss |
Sensory Hearing Loss
|
Sensorineural Deafness
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
Central Hearing Loss
|
High Frequency Deafness
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
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
|
|
|
Metaphyseal Dysplasia |
Bakwin-Krida Syndrome
|
Pyle'S Disease
|
Pyle-Cohn Syndrome
|
|
|
Tracheomalacia |
Congenital Tracheomalacia
|
Congenital Major Airway Collapse
|
Tracheomalacia, Congenital
|
Type 1 Tracheomalacia
|
|
|
Metatropic Dysplasia |
Metatropic Dwarfism
|
MTD
|
Metatropic Dysplasia Type 1
|
Metatropic Dysplasia, Nonlethal Dominant
|
|
|
Osteonecrosis |
Bone Necrosis
|
Avascular Necrosis Of Bone
|
Aseptic Necrosis
|
Necrosis Of Bone Nos
|
Aseptic Osteonecrosis
|
Aseptic Necrosis Of Bone, Site Unspecified
|
Aseptic Or Avascular Bone Necrosis
|
Aseptic Necrosis Of Bone
|
Necrotic Bone
|
Necrotizing Bone
|
Spontaneous Osteonecrosis
|
Osteoradionecrosis
|
|
|
Kashin-Beck Disease |
Kaschin-Beck Disease
|
Kaschin-Beck Disease, Unspecified Site
|
Kashin-Bek Disease
|
Urov Disease
|
|
|
Bone Development Disease |
|
|
Scheuermann Disease |
Scheuermann'S Disease
|
Spinal Osteochondrosis
|
Juvenile Osteochondrosis Of Spine
|
Familial Scheuermann Disease
|
Familial Scheuermann Juvenile Kyphosis
|
Familial Spinal Osteochondrosis
|
Scheuermann Juvenile Kyphosis
|
Juvenile Osteochondritis Of The Spine
|
Juvenile Osteochondrosis Of Scheurermann
|
Scheuermann'S Kyphosis
|
Sherman'S Disease
|
Juvenile Kyphosis
|
Scheuermann Kyphosis
|
[X]Spinal Osteochondrosis, Unspecified
|
|
|
Macroglossia |
Congenital Macroglossia
|
Enlarged Tongue
|
Giant Tongue
|
Acquired Macroglossia Nos
|
Congenital Hypertrophy Of Tongue
|
|
|
Tracheal Disease |
Tracheal Diseases
|
Tracheal Anomaly
|
Tracheal Disorders
|
|
|
Achondroplasia |
Achondroplastic Dwarfism
|
ACH
|
Osteosclerosis Congenita
|
Achondroplastic Physique
|
Chondrodystrophia
|
Dwarf, Achondroplastic
|
Achondroplastic Short Stature
|
Congenital Osteosclerosis
|
|
|
Clubfoot |
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
Club Foot
|
|
|
Bone Structure Disease |
|
|
Enchondromatosis, Multiple, Ollier Type |
Ollier Disease
|
Enchondromatosis
|
Dyschondroplasia
|
Osteochondromatosis
|
Multiple Cartilaginous Enchondroses
|
Multiple Enchondromatosis
|
Enchondromatosis With Haemangiomata
|
Enchondromatosis, Multiple
|
Kast'S Syndrome
|
Ollier'S Syndrome
|
Enchondromatosis Multiple
|
ENCHOM
|
Maffucci Disease
|
Olliers Disease
|
Hereditary Multiple Exostoses
|
Chondromatosis
|
|
|
Marfan Syndrome |
MFS
|
Mfs1
|
Marfan'S Syndrome
|
Marfan Syndrome Type 1
|
Marfan Syndrome, Type I
|
Mass Phenotype
|
Contractural Arachnodactyly
|
Mass Syndrome
|
Octd
|
Overlap Connective Tissue Disease
|
Marfanoid Hypermobility Syndrome
|
Marfan Disease
|
|
|
Simpson-Golabi-Behmel Syndrome, Type 1 |
Simpson-Golabi-Behmel Syndrome Type 1
|
Simpson-Golabi-Behmel Syndrome
|
SGBS1
|
Golabi-Rosen Syndrome
|
Simpson Dysmorphia Syndrome
|
Sgbs
|
Bulldog Syndrome
|
Dgsx
|
Sdys
|
Dysplasia Gigantism Syndrome, X-Linked
|
X-Linked Dysplasia Gigantism Syndrome
|
Dgsx Golabi-Rosen Syndrome
|
Sara Angers Syndrome
|
Sgb Syndrome
|
Mental Retardation-Overgrowth Syndrome
|
Simpson Dysplasia Syndrome
|
Simpson Syndrome
|
Simpson-Golabi-Behmel Syndrome 1
|
Dysplasia Gigantism Syndrome X-Linked
|
|
|
Ehlers-Danlos Syndrome |
Eds
|
Cutis Hyperelastica
|
Elastic Skin
|
Ehlers-Danlos Syndromes
|
Ed Syndrome
|
Ehlers Danlos Syndrome
|
Ehlers Danlos Disease
|
Eds - [Ehlers-Danlos Syndrome]
|
|
|
Hypochondroplasia |
HCH
|
Hypochondrodysplasia
|
Chondrogenesis Imperfecta
|
Hypochondroplastic Dwarfism
|
Hypochondroplastic Short Stature
|
|
|
Kohler'S Disease |
Kohler Disease
|
Aseptic Necrosis Of The Tarsal Bone
|
Osteochondrosis Of The Tarsal Bone
|
Juvenile Osteochondrosis Of Foot
|
Kohler'S Disease Of The Tarsal Navicular
|
Kohler'S Osteochondrosis Of The Tarsal Navicular
|
Navicular Osteochondrosis
|
Obsolete: Osteochondritis Of Tarsal/Metatarsal Bone
|
Osteochondritis Of Tarsal/Metatarsal Bone
|
Avascular Necrosis Of The Tarsal Bone
|
Larsen-Johansson Syndrome
|
|
|
Refractive Error |
|
|
Fibrochondrogenesis 1 |
FBCG1
|
Fibrochondrogenesis, Type 1
|
|
|
Dyssegmental Dysplasia, Silverman-Handmaker Type |
DDSH
|
Silverman-Handmaker Type Dyssegmental Dysplasia
|
Dyssegmental Dysplasia Silverman-Handmaker Type
|
Dyssegmental Dwarfism Silverman-Handmaker Type
|
Dyssegmental Dwarfism, Silverman-Handmaker Type
|
Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type
|
Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type
|
Dysplasia, Dyssegmental, Silverman-Handmaker Type
|
|
|
Metachondromatosis |
|
|
Eye Disease |
Eye Diseases
|
Abnormality Of The Eye
|
Toxoplasma Oculopathy
|
|
|
Acromesomelic Dysplasia |
Acromesomelic Dwarfism
|
Dysplasia, Acromesomelic
|
Acromesomelic Dysplasia Hunter-Thompson Type
|
|
|
Bone Deterioration Disease |
|
|
Strabismus |
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
Strabismus 1
|
|
|
Thanatophoric Dysplasia, Type I |
Thanatophoric Dysplasia
|
Thanatophoric Dwarfism
|
Thanatophoric Dysplasia Type 1
|
TD1
|
Td
|
Thanatophoric Short Stature
|
Thanatophoric Dwarfism Type 1
|
Thanatophoric Dysplasia Type I
|
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
|
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type
|
Skeletal Dysplasia, San Diego Type
|
Plsd San Diego Type
|
Thanatophoric Dwarfism 1
|
Dwarfism Thanatophoric
|
Dwarf, Thanatophoric
|
Thanatophoric Dysplasia 1
|
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type
|
Platyspondylic Lethal Skeletal Dysplasia San Diego Type
|
Thanatophoric Dwarf
|
Thanatophoric Dwarfism Or Short Stature
|
Thanatophoric Dwarfism Syndrome
|
Td - [Thanatophoric Dwarfism]
|
|
|
Exostosis |
Osteophyte
|
Exostoses
|
Orbital Exostosis
|
Exostosis Of Orbit
|
Bone Spur
|
Bony Outgrowth
|
Swimmer'S Exostosis
|
Osteophytes
|
External Exotoses
|
Cartilaginous Exostosis
|
|
|
Osteochondritis Dissecans |
Osteochondritis
|
Ocd
|
Konig Disease
|
|
|
Epidermolysis Bullosa Simplex |
Ebs
|
Epidermolysis Bullosa Intraepidermic
|
Epidermolytic Epidermolysis Bullosa
|
|
|
Fibrosis Of Extraocular Muscles, Congenital, 1 |
Fibrosis Of Extraocular Muscles, Congenital, 3b
|
CFEOM1
|
Blepharoptosis With Absent Eye Movements
|
Congenital Fibrosis Of The Extraocular Muscles 1
|
Congenital Fibrosis Of Extraocular Muscles Type 1
|
Fibrosis
|
Ophthalmoplegia, Congenital
|
Feom1 Locus
|
Congenital Ophthalmoplegia
|
Feom1
|
CFEOM3B
|
Fibrosis, Extraocular Muscles, Congenital, Type 1
|
Congenital Fibrosis Of The Extraocular Muscles
|
|
|
Brachyolmia |
|
|
Degenerative Disc Disease |
Intervertebral Disc Degeneration
|
Cervical Disc Degenerative Disorder
|
Cervical Disc Degenerative Disease
|
Lumbar Disc Degeneration
|
Vertebral Disc Disease
|
Degeneration Of Lumbar Intervertebral Disc
|
Intervertebral Disc Disorder
|
Discogenic Disease
|
|
|
Periosteal Chondrosarcoma |
Juxtacortical Chondrosarcoma
|
|
|
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
|
|
|
Spondyloepiphyseal Dysplasia, Nishimura Type |
SEDN
|
Spondyloepiphyseal Dysplasia Nishimura Type
|
|
|
Rheumatoid Arthritis |
RA
|
Arthritis, Rheumatoid
|
Rheumatoid Arthritis, Susceptibility To
|
Arthritis Or Polyarthritis, Rheumatic
|
Atrophic Arthritis
|
Rheumatism Arthritis
|
Rheumatoid Polyarthritis
|
|
|
Ischemic Bone Disease |
|
|
Spondylocarpotarsal Synostosis Syndrome |
SCT
|
Spondylocarpotarsal Syndrome
|
Vertebral Fusion With Carpal Coalition
|
Congenital Scoliosis With Unilateral Unsegmented Bar
|
Congenital Synspondylism
|
Spondylocarpotarsal Synostosis
|
Synspondylism, Congenital
|
Scoliosis, Congenital, With Unilateral Unsegmented Bar
|
Scoliosis, Congenital With Unilateral Unsegmented Bar
|
Synspondylism Congenital
|
Sct Syndrome
|
Synspondylism
|
|
|
Vitreous Disease |
Disorder Of Vitreous Body
|
|
|
Cataract |
Cataracts
|
Cat - [Cataract]
|
Cataract Form
|
Lens Opacity
|
Lens Opacities
|
|
|
Peripheral Retinal Degeneration |
Peripheral Degeneration Of Retina
|
Degeneration Of Retina Nos
|
Reticular Retinal Degeneration
|
Retinal Degeneration
|
|
|
Retinal Degeneration |
|
|
Isolated Growth Hormone Deficiency, Type Ia |
Ighd Ia
|
Primordial Dwarfism
|
Isolated Growth Hormone Deficiency Type Ia
|
Sexual Ateleiotic Dwarfism
|
Pituitary Dwarfism I
|
IGHD1A
|
Illig-Type Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, Type Ia
|
Congenital Ighd Type Ia
|
Congenital Isolated Gh Deficiency Type Ia
|
Congenital Isolated Growth Hormone Deficiency Type Ia
|
Pituitary Dwarfism 1
|
Growth Hormone Deficiency, Isolated, Autosomal Recessive
|
Autosomal Recessive Isolated Growth Hormone Deficiency
|
Isolated Growth Hormone Deficiency Type 1a
|
Congenital Ighd
|
Congenital Isolated Gh Deficiency
|
Congenital Isolated Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated Autosomal Recessive
|
Illig Type Growth Hormone Deficiency
|
Non-Acquired Isolated Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, 1a
|
Growth Hormone Deficiency Isolated Autosomal Recessive
|
Dwarfism, Primordial
|
Dwarfism
|
|
|
Orofacial Cleft |
|
|
Larsen Syndrome |
LRS
|
Larsen Syndrome, Dominant Type
|
Dominant Larsen Syndrome
|
Autosomal Dominant Larsen Syndrome
|
Larsens Syndrome
|
|
|
Brachydactyly, Type C |
Brachydactyly Type C
|
BDC
|
Brachydactyly Haws Type
|
Brachydactyly, Haws Type
|
Brachydactyly C
|
|
|
Acromesomelic Dysplasia 2a |
Chondrodysplasia, Grebe Type
|
Acromesomelic Dysplasia, Grebe Type
|
Grebe Chondrodysplasia
|
Amdg
|
Grebe Syndrome
|
AMD2A
|
Grebe Dysplasia
|
Achondrogenesis, Brazilian
|
Achondrogenesis, Type Ii, Formerly
|
Acromesomelic Dysplasia-2a
|
Achondrogenesis Type Ii
|
Brazilian Achondrogenesis
|
Acromesomelic Chondrodysplasia, Grebe Type
|
|
|
Chondromalacia |
Chondromalacia, Unspecified Site
|
Chondromalacia Nos
|
|
|
Acromesomelic Dysplasia 1 |
Acromesomelic Dysplasia, Maroteaux Type
|
Amdm
|
Acromesomelic Dysplasia 1, Maroteaux Type
|
AMD1
|
St. Helena Dysplasia
|
Acromesomelic Dysplasia-1
|
Acromesomelic Dysplasia Maroteaux Type
|
Acromesomelic Dwarfism Maroteux Type
|
Dysplasia, Acromesomelic, Type 1, Maroteaux
|
Acromesomelic Dysplasia Hunter-Thompson Type
|
|
|
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
Mental Retardation, X-Linked 3
|
Methylmalonic Acidemia With Homocystinuria, Type Cblx
|
MAHCX
|
Intellectual Developmental Disorder, X-Linked 3
|
Xlid3
|
Mrx3
|
Methylmalonic Acidemia And Homocysteinemia Cblx Type
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx
|
Methylmalonic Aciduria With Homocystinuria, Type Cblx
|
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
|
Methylmalonic Aciduria And Homocysteinemia, Cblx Type
|
Methylmalonic Aciduria And Homocysteinemia , Cblx Type
|
Mental Retardation, X-Linked, Type 3
|
|
|
Bone Inflammation Disease |
Osteitis
|
Bone Inflammatory Disease
|
Inflammatory Disorder Of Bone
|
|
|
Laryngomalacia |
Congenital Laryngomalacia
|
Congenital Laryngeal Stridor
|
Laryngomalacia Congenital
|
Floppy Epiglottis
|
|
|
Osteogenesis Imperfecta, Type Ii |
Vrolik Type Of Osteogenesis Imperfecta
|
Osteogenesis Imperfecta Type 2
|
OI2
|
Oi, Type Ii
|
Osteogenesis Imperfecta Congenita
|
Oic
|
Osteogenesis Imperfecta Type Ii
|
Lethal Osteogenesis Imperfecta
|
Oi Type 2
|
Osteogenesis Imperfecta Congenita Perinatal Lethal Form
|
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form
|
Perinatal Lethal Osteogenesis Imperfecta Congenita
|
Perinatally Lethal Oi
|
Osteogenesis Imperfecta 2
|
Oi-Ii
|
Oi-Iia
|
Oi Type Iia
|
Osteogenesis Imperfecta Type Iia
|
Osteogenesis Imperfecta Type Ii Autosomal Dominant
|
Oi Type Ii
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
|
|
Cleidocranial Dysplasia |
Cleidocranial Dysostosis
|
CLCD
|
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
|
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
|
CCD
|
Marie-Sainton Disease
|
Dysplasia Cleidocranial
|
Dento-Osseous Dysplasia
|
Marie-Sainton Syndrome
|
Dysplasia, Cleidocranial
|
|
|
Crouzon Syndrome |
Crouzon Craniofacial Dysostosis
|
Craniofacial Dysostosis
|
Cfd1
|
Craniofacial Dysostosis Type 1
|
Crouzon Disease
|
Crouzon'S Disease
|
Craniofacial Dysostosis, Type I
|
Craniofacial Dysarthrosis
|
Craniofacial Dysostosis Syndrome
|
CS
|
Craniofacial Dysostosis Type I
|
Vogt Cephalosyndactyly
|
|
|
Diamond-Blackfan Anemia 1 |
Aase Syndrome
|
DBA1
|
Erythrogenesis Imperfecta
|
Aase-Smith Syndrome Ii
|
Dba
|
Blackfan-Diamond Syndrome
|
Bds
|
Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
|
Anemia, Congenital Erythroid Hypoplastic
|
Red Cell Aplasia, Pure, Hereditary
|
Aregenerative Anemia, Chronic Congenital
|
Rps19-Related Diamond-Blackfan Anemia
|
Chronic Congenital Aregenerative Anemia
|
Congenital Erythroid Hypoplastic Anemia
|
Congenital Hypoplastic Anemia Of Blackfan And Diamond
|
Pure Hereditary Red Cell Aplasia
|
Anemia, Diamond-Blackfan, Type 1
|
Anemia, Diamond-Blackfan
|
Aase Smith Syndrome 2
|
Familial Hypoplastic Anaemia With Malformations
|
Constitutional Pure Red Cell Aplasia
|
|
|
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
|
|
|
Retinitis Pigmentosa |
RP
|
Rod-Cone Dystrophy
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
Tapetoretinal Degeneration
|
Rcd
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|