1. Gene
  2. COL2A1 - collagen type II alpha 1 chain Gene

COL2A1 - collagen type II alpha 1 chain Gene

Homo sapiens

Also known as AOM; ANFH; SEDC; STL1; COL11A3

Gene ID: 1280 | Gene type: protein coding

About COL2A1

Cytogenetic location: 12q13.11 Genomic coordinates (GRCh38): 12:47,972,967-48,006,212 (from NCBI)

This gene has 9 transcripts (splice variants), 246 orthologues, 37 paralogues and is associated with 120 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]

COL2A1 Products(2)

mRNA Protein Name
NM_001844.5 NP_001835.3 collagen alpha-1(II) chain isoform 1 precursor
NM_033150.3 NP_149162.2 collagen alpha-1(II) chain isoform 2 precursor

COL2A1 Protein Structure

VWC

VWC: von Willebrand factor type C domain (34 - 89)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (117 - 174)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (201 - 259)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (243 - 298)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (375 - 418)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (438 - 496)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (738 - 796)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (801 - 859)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (850 - 901)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1158 - 1216)

COLFI

COLFI: Fibrillar collagen C-terminal domain (1269 - 1486)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1487 a.a.
Protein Preferred Names Protein Names

collagen alpha-1(II) chain

alpha-1 type II collagen

Recombinant COL2A1 Proteins

Cat. No. Product Name Accession Purity
HY-P75333 Collagen alpha-1(II) chain/COL2A1 Protein, Human (HEK293, His) P02458-2 (D1242-L1487) ≥95%

Related Diseases

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

Achondrogenesis Syndrome

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

Avn

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

Vitreous Degeneration

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

Refractive Errors

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

METCDS

MC

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

Brachyrachia

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

Degeneration Of Retina

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

Cleft, Orofacial

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

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus COL2A1 MGD MGI:88452
Felis catus COL2A1 VGNC VGNC:61058
Bos taurus COL2A1 VGNC VGNC:27564
Macaca mulatta COL2A1 VGNC VGNC:71295
Canis familiaris COL2A1 VGNC VGNC:39471
Rattus norvegicus COL2A1 RGD RGD:2375
Others COL2A1 NCBI