Showing entry for Collagen alpha-1(II) chain


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT005879
Protein NameCollagen alpha-1(II) chain
Uniport IdP02458
GeneCOL2A1
Gene Id1280
DomainCOLFI; Collagen; VWC
Pfam PF01410   PF01391   PF00093  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
3. Environmental Information Processing 3.2 Signal transduction hsa04151 PI3K-Akt signaling pathway
4. Cellular Processes 4.3 Cellular community - eukaryotes hsa04510 Focal adhesion
3. Environmental Information Processing 3.3 Signaling molecules and interaction hsa04512 ECM-receptor interaction
5. Organismal Systems 5.4 Digestive system hsa04974 Protein digestion and absorption
6. Human Diseases 6.9 Infectious diseases: Viral hsa05165 Human papillomavirus infection
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0097065 anterior head development
Biological Process GO:0001502 cartilage condensation
Biological Process GO:0051216 cartilage development
Biological Process GO:0060351 cartilage development involved in endochondral bone morphogenesis
Biological Process GO:0071773 cellular response to BMP stimulus
Biological Process GO:0007417 central nervous system development
Biological Process GO:0002062 chondrocyte differentiation
Biological Process GO:0030199 collagen fibril organization
Biological Process GO:0060272 embryonic skeletal joint morphogenesis
Biological Process GO:0001958 endochondral ossification
Biological Process GO:0030198 extracellular matrix organization
Biological Process GO:0003007 heart morphogenesis
Biological Process GO:0042472 inner ear morphogenesis
Biological Process GO:0060174 limb bud formation
Biological Process GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
Biological Process GO:0030903 notochord development
Biological Process GO:0071599 otic vesicle development
Biological Process GO:0006029 proteoglycan metabolic process
Biological Process GO:0010468 regulation of gene expression
Biological Process GO:0050776 regulation of immune response
Biological Process GO:0060021 roof of mouth development
Biological Process GO:0007605 sensory perception of sound
Biological Process GO:0001501 skeletal system development
Biological Process GO:0001894 tissue homeostasis
Biological Process GO:0007601 visual perception
molecular function GO:0005201 extracellular matrix structural constituent
molecular function GO:0030020 extracellular matrix structural constituent conferring tensile strength
molecular function GO:0042802 identical protein binding
molecular function GO:0046872 metal ion binding
molecular function GO:0042289 MHC class II protein binding
molecular function GO:0048407 platelet-derived growth factor binding
molecular function GO:0043394 proteoglycan binding
cellular component GO:0005604 basement membrane
cellular component GO:0062023 collagen-containing extracellular matrix
cellular component GO:0005581 collagen trimer
cellular component GO:0005585 collagen type II trimer
cellular component GO:0005788 endoplasmic reticulum lumen
cellular component GO:0031012 extracellular matrix
cellular component GO:0005576 extracellular region
cellular component GO:0005615 extracellular space
Reactome
Pathway Id Pathway Name
R-HSA-1266738 Developmental Biology
R-HSA-1280218 Adaptive Immune System
R-HSA-1442490 Collagen degradation
R-HSA-1442490 Collagen degradation
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474244 Extracellular matrix organization
R-HSA-1474244 Extracellular matrix organization
R-HSA-1474290 Collagen formation
R-HSA-162582 Signal Transduction
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-168256 Immune System
R-HSA-186797 Signaling by PDGF
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-3000178 ECM proteoglycans
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-419037 NCAM1 interactions
R-HSA-422475 Axon guidance
R-HSA-6806834 Signaling by MET
R-HSA-8874081 MET activates PTK2 signaling
R-HSA-8875878 MET promotes cell motility
R-HSA-8948216 Collagen chain trimerization
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-9675108 Nervous system development
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000731 BXGD000002 Abdomen distended Digestive System Diseases
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001079 BXGD000021 Achondrogenesis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0001080 BXGD000022 Achondroplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0001193 BXGD000030 Apert syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0001430 BXGD000054 Adenoma Neoplasms
C0003706 BXGD000215 Arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0003862 BXGD000230 Arthralgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0003864 BXGD000231 Arthritis Musculoskeletal Diseases
C0003865 BXGD000232 Arthritis, Adjuvant-Induced Musculoskeletal Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0005586 BXGD000315 Bipolar Disorder Mental Disorders
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0005890 BXGD000345 Body Height
C0005941 BXGD000353 Bone Diseases, Developmental Musculoskeletal Diseases
C0005974 BXGD000358 Bone Resorption Musculoskeletal Diseases
C0006262 BXGD000380 Bronchial Fistula Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007302 BXGD000460 Cartilage Diseases Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0008449 BXGD000542 Congenital anomaly of cartilage Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0008479 BXGD000544 Chondrosarcoma Neoplasms
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009319 BXGD000596 Colitis Digestive System Diseases
C0009324 BXGD000597 Ulcerative Colitis Digestive System Diseases
C0009326 BXGD000598 Collagen Diseases Skin and Connective Tissue Diseases
C0009375 BXGD000602 Colonic Neoplasms Digestive System Diseases; Neoplasms
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009404 BXGD000606 Colorectal Neoplasms Digestive System Diseases; Neoplasms
C0009782 BXGD000631 Connective Tissue Diseases Skin and Connective Tissue Diseases
C0009917 BXGD000635 Contracture Musculoskeletal Diseases
C0011195 BXGD000702 Dejerine-Sottas Disease (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0011854 BXGD000753 Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013132 BXGD000799 Drooling Stomatognathic Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013366 BXGD000820 Dyschondroplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0013581 BXGD000855 Ectopia Lentis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0013604 BXGD000859 Edema Pathological Conditions, Signs and Symptoms
C0013720 BXGD000861 Ehlers-Danlos Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0014084 BXGD000891 Enchondromatosis Musculoskeletal Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0015302 BXGD000974 External exotoses Musculoskeletal Diseases
C0015397 BXGD000983 Disorder of eye Eye Diseases
C0015814 BXGD001021 Femur Head Necrosis Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0016242 BXGD001052 Vitreous floaters
C0016506 BXGD001062 Foot Deformities Musculoskeletal Diseases
C0016842 BXGD001083 Congenital pectus excavatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017601 BXGD001125 Glaucoma Eye Diseases
C0018777 BXGD001217 Conductive hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018862 BXGD001242 Heberden node Musculoskeletal Diseases
C0019288 BXGD001313 Hernia, Femoral Pathological Conditions, Signs and Symptoms
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0019553 BXGD001333 Hip Contracture Musculoskeletal Diseases
C0019559 BXGD001335 Hip joint pain Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
C0020305 BXGD001374 Hydrops Fetalis Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C0020507 BXGD001413 Hyperplasia Pathological Conditions, Signs and Symptoms
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020581 BXGD001436 Hyphema Pathological Conditions, Signs and Symptoms; Eye Diseases
C0020676 BXGD001462 Hypothyroidism Endocrine System Diseases
C0021368 BXGD001502 Inflammation Pathological Conditions, Signs and Symptoms
C0021775 BXGD001512 Intermittent Claudication Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0021841 BXGD001519 Intestinal Neoplasms Digestive System Diseases; Neoplasms
C0022360 BXGD001541 Jaw Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0022408 BXGD001544 Arthropathy Musculoskeletal Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023221 BXGD001619 Leg Length Inequality Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0023234 BXGD001622 Legg-Calve-Perthes Disease Musculoskeletal Diseases
C0023798 BXGD001702 Lipoma Neoplasms
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024636 BXGD001793 Malocclusion Stomatognathic Diseases
C0024796 BXGD001806 Marfan Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025237 BXGD001841 Melnick-Needles Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0025362 BXGD001866 Mental Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0025995 BXGD001885 Micromelia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0026267 BXGD001896 Mitral Valve Prolapse Syndrome Cardiovascular Diseases
C0026269 BXGD001897 Mitral Valve Stenosis Cardiovascular Diseases
C0026707 BXGD001922 Mucopolysaccharidosis IV Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0026760 BXGD001927 Multiple Epiphyseal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026769 BXGD001930 Multiple Sclerosis Immune System Diseases; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027543 BXGD001997 Avascular necrosis of bone Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029410 BXGD002138 Osteoarthritis of hip Musculoskeletal Diseases
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0029454 BXGD002155 Osteopetrosis Musculoskeletal Diseases
C0029882 BXGD002177 Otitis Media Otorhinolaryngologic Diseases
C0029883 BXGD002178 Otitis Media with Effusion Otorhinolaryngologic Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0031900 BXGD002313 Pierre Robin Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0032580 BXGD002362 Adenomatous Polyposis Coli Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
C0032927 BXGD002381 Precancerous Conditions Neoplasms
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035305 BXGD002529 Retinal Detachment Eye Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035313 BXGD002532 Retinal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036391 BXGD002608 Schwartz-Jampel Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0038015 BXGD002726 Spondyloepiphyseal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0039103 BXGD002791 Synovitis Musculoskeletal Diseases
C0039685 BXGD002825 Tetralogy of Fallot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0040433 BXGD002865 Tooth Crowding Stomatognathic Diseases
C0040560 BXGD002875 Toxoplasmosis, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
C0040580 BXGD002877 Tracheal Diseases Respiratory Tract Diseases
C0040583 BXGD002878 Tracheal Stenosis Respiratory Tract Diseases
C0041834 BXGD002935 Erythema Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0042454 BXGD002983 Velopharyngeal Insufficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0079731 BXGD003087 B-Cell Lymphomas Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0085096 BXGD003123 Peripheral Vascular Diseases Cardiovascular Diseases
C0085610 BXGD003202 Sinus bradycardia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0085660 BXGD003228 Aseptic necrosis Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0085700 BXGD003246 Chondromalacia Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0086743 BXGD003308 Osteoarthrosis Deformans Musculoskeletal Diseases
C0149645 BXGD003339 Cervical myelopathy Nervous System Diseases
C0151315 BXGD003414 Neck stiffness Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151603 BXGD003445 Anasarca Pathological Conditions, Signs and Symptoms
C0152439 BXGD003593 Retinoschisis Eye Diseases
C0152459 BXGD003600 Linear atrophy Pathological Conditions, Signs and Symptoms
C0154856 BXGD003751 Retinal lattice degeneration Eye Diseases
C0155366 BXGD003789 Vitreous degeneration Eye Diseases
C0157946 BXGD003873 Osteoarthrosis, localized, not specified whether primary or secondary Musculoskeletal Diseases
C0158252 BXGD003877 Intervertebral disc disorder Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0158266 BXGD003878 Intervertebral Disc Degeneration Musculoskeletal Diseases
C0158564 BXGD003891 Congenital vitreous anomaly
C0158731 BXGD003902 Congenital pectus carinatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0162323 BXGD003937 Polyarthritis Musculoskeletal Diseases
C0206620 BXGD004187 Lymphangioma, Cystic Neoplasms
C0206637 BXGD004202 Mesenchymal Chondrosarcoma Neoplasms
C0220685 BXGD004320 Achondrogenesis type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0220726 BXGD004333 Diastrophic dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0221170 BXGD004400 Muscular stiffness Nervous System Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0221357 BXGD004449 Brachydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0231528 BXGD004496 Myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231712 BXGD004519 Waddling gait Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0233286 BXGD004573 Frank Breech Presentation Female Urogenital Diseases and Pregnancy Complications
C0236734 BXGD004823 Caffeine related disorders
C0239137 BXGD004965 Coxa valga Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0239138 BXGD004966 Hip joint varus deformity - observation Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0239234 BXGD004974 Low set ears
C0239479 BXGD004982 Round face
C0239783 BXGD004992 Inguinal pain Pathological Conditions, Signs and Symptoms
C0240310 BXGD005030 Hypoplasia of the maxilla
C0240379 BXGD005033 Open mouth (finding)
C0240543 BXGD005042 Bulbous nose
C0262361 BXGD005229 Growth abnormality
C0262444 BXGD005244 Abnormality of the dentition Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0263661 BXGD005338 Disorder of skeletal system Musculoskeletal Diseases
C0263746 BXGD005346 Osteoarthritis of the hand Musculoskeletal Diseases
C0263870 BXGD005351 Narrowing of intervertebral disc space Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0264142 BXGD005368 Spade-like hand Musculoskeletal Diseases
C0264172 BXGD005371 Barrel chest Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0265235 BXGD005476 Marshall syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0265252 BXGD005483 Coffin-Lowry syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0265253 BXGD005484 Stickler syndrome (disorder) Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
C0265255 BXGD005485 Trichorhinophalangeal syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0265279 BXGD005496 Kniest dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Endocrine System Diseases; Stomatognathic Diseases
C0265294 BXGD005506 Pyle metaphyseal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265783 BXGD005575 Congenital hypoplasia of lung Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0265998 BXGD005600 ANONYCHIA Pathological Conditions, Signs and Symptoms
C0267048 BXGD005728 Glossoptosis Stomatognathic Diseases
C0268336 BXGD005900 Ehlers-Danlos syndrome type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0268357 BXGD005912 Osteogenesis imperfecta, type 1A Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
C0268358 BXGD005913 Osteogenesis imperfecta, dominant perinatal lethal Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0270685 BXGD006084 Cerebral calcification Nutritional and Metabolic Diseases; Nervous System Diseases
C0271055 BXGD006154 Rhegmatogenous retinal detachment Eye Diseases
C0271183 BXGD006169 Severe myopia Eye Diseases
C0275544 BXGD006377 Congenital infectious disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0280781 BXGD006758 Adult Pilocytic Astrocytoma Neoplasms
C0332865 BXGD006902 Congenital dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0333641 BXGD006961 Atrophic Pathological Conditions, Signs and Symptoms
C0334583 BXGD007124 Pilocytic Astrocytoma Neoplasms
C0338106 BXGD007167 Adenocarcinoma of colon Digestive System Diseases; Neoplasms
C0339546 BXGD007268 Retinal Pigment Epithelial Detachment Eye Diseases
C0343284 BXGD007613 Chondrodysplasia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0344290 BXGD007662 Vitreoretinal degeneration
C0345375 BXGD007730 Congenital hypoplasia of femur Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0349588 BXGD007933 Short stature
C0376634 BXGD008006 Craniofacial Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0392476 BXGD008046 Epiphyseal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0395866 BXGD008170 Recurrent acute otitis media
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0409952 BXGD008399 Idiopathic osteoarthritis Musculoskeletal Diseases
C0409959 BXGD008400 Osteoarthritis, Knee Musculoskeletal Diseases
C0410480 BXGD008429 Avascular Necrosis of Femur Head Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0410538 BXGD008434 Pseudoachondroplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0410574 BXGD008436 Synovial Hypertrophy Musculoskeletal Diseases
C0410606 BXGD008437 Cervical Disc Degenerative Disorder Musculoskeletal Diseases
C0410632 BXGD008440 Schmorl's nodes Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0423112 BXGD008472 Short palpebral fissure
C0423361 BXGD008482 Posterior Vitreous Detachment Eye Diseases
C0426209 BXGD008556 amniotic fluid meconium stained
C0426789 BXGD008576 Short thorax
C0426790 BXGD008577 Narrow thorax
C0426817 BXGD008585 Short ribs
C0426818 BXGD008586 Thin rib
C0426891 BXGD008595 Broad thumbs
C0431890 BXGD008712 Hypoplasia of thumb Musculoskeletal Diseases
C0431904 BXGD008713 Ulnar polydactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432072 BXGD008718 Dysmorphic features
C0432163 BXGD008729 Defect of vertebral segmentation Musculoskeletal Diseases
C0432211 BXGD008737 Spondyloepimetaphyseal disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432214 BXGD008738 Namaqualand hip dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432215 BXGD008739 Progressive pseudorheumatoid dysplasia Musculoskeletal Diseases
C0432221 BXGD008742 Spondylometaphyseal dysplasia, 'corner fracture' type Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries
C0432272 BXGD008761 Van Buchem disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432321 BXGD008775 Epidermolysis bullosa, pretibial Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0452138 BXGD008831 Sensorineural hearing loss, bilateral Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0520679 BXGD009101 Sleep Apnea, Obstructive Respiratory Tract Diseases; Nervous System Diseases
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0521158 BXGD009130 Recurrent tumor
C0521525 BXGD009139 Short neck
C0521707 BXGD009166 Bilateral cataracts (disorder) Eye Diseases
C0521770 BXGD009179 Asteroid hyalosis Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0524524 BXGD009228 Pseudoaphakia Eye Diseases
C0524595 BXGD009233 Aseptic Necrosis of Femur Head Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0541764 BXGD009259 Delayed bone age
C0541794 BXGD009262 Skeletal muscle atrophy
C0542428 BXGD009275 Hypochondrogenesis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0544755 BXGD009310 Genu varum Musculoskeletal Diseases
C0549622 BXGD009392 Sexual Dysfunction Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Mental Disorders; Behavior and Behavior Mechanisms
C0566888 BXGD009493 Narrow sacrosciatic notch
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0576093 BXGD009525 Knee joint valgus deformity Musculoskeletal Diseases
C0576226 BXGD009527 Short foot
C0595939 BXGD009629 Stillbirth Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0595995 BXGD009634 Idiopathic scoliosis Musculoskeletal Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0699744 BXGD009863 Infection of ear Otorhinolaryngologic Diseases
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0700635 BXGD009897 Strudwick syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0701825 BXGD009905 Acute mastoiditis Infections; Musculoskeletal Diseases; Otorhinolaryngologic Diseases
C0747085 BXGD010158 Recurrent otitis media Otorhinolaryngologic Diseases
C0796173 BXGD010808 Spondyloperipheral dysplasia short ulna Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0853193 BXGD010968 Bipolar I disorder Mental Disorders
C0877165 BXGD011338 Short phalanx of finger
C0878659 BXGD011380 Disproportionate short stature Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0948187 BXGD011513 Tracheomalacia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
C0949691 BXGD011585 Spondylarthropathies Musculoskeletal Diseases
C0971858 BXGD011594 Arthritis, Collagen-Induced Musculoskeletal Diseases
C0993582 BXGD011596 Arthritis, Experimental Musculoskeletal Diseases
C1184919 BXGD011799 Thoracic kyphosis Musculoskeletal Diseases
C1184923 BXGD011800 Lumbar hyperlordosis Musculoskeletal Diseases
C1260954 BXGD011845 Morphologically altered structure
C1262477 BXGD011882 Weight decreased Pathological Conditions, Signs and Symptoms
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1302401 BXGD012303 Adenoma of large intestine Digestive System Diseases; Neoplasms
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1328407 BXGD012465 Hip Dysplasia Musculoskeletal Diseases; Wounds and Injuries
C1332995 BXGD012575 Childhood Pilocytic Astrocytoma Neoplasms
C1384584 BXGD012943 Generalized osteoarthritis Musculoskeletal Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1442903 BXGD013062 Exostoses Musculoskeletal Diseases
C1442965 BXGD013064 Avascular necrosis of the capital femoral epiphysis Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C1510497 BXGD013174 Lens Opacities Eye Diseases
C1519086 BXGD013230 Pilomyxoid astrocytoma Neoplasms
C1519670 BXGD013241 Tumor Angiogenesis Pathological Conditions, Signs and Symptoms
C1611743 BXGD013456 Familial (FPAH)
C1691779 BXGD013493 Sensory hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1704356 BXGD013549 Enchondroma Neoplasms
C1834953 BXGD014001 Lumbar kyphoscoliosis
C1834954 BXGD014002 Coronal cleft vertebrae
C1834961 BXGD014003 Flattened, squared-off epiphyses of tubular bones
C1835121 BXGD014013 Premature osteoarthritis Musculoskeletal Diseases
C1835437 BXGD014029 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1835442 BXGD014030 Decreased cranial base ossification
C1835444 BXGD014031 Disc-like vertebral bodies
C1835446 BXGD014032 Severe limb shortening
C1836080 BXGD014077 Stickler Syndrome, Type I, Nonsyndromic Ocular Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1836081 BXGD014078 RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1836184 BXGD014088 Short femoral neck
C1836195 BXGD014094 Short toe
C1836308 BXGD014107 Generalized joint laxity
C1836542 BXGD014129 Depressed nasal bridge
C1836674 BXGD014145 Short distal phalanx of the 5th finger
C1836683 BXGD014148 Czech dysplasia, metatarsal type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1836688 BXGD014149 Narrow iliac wings
C1836940 BXGD014182 Thickened nuchal skin fold
C1836996 BXGD014183 Disproportionate tall stature
C1837082 BXGD014194 Metaphyseal cupping
C1837084 BXGD014195 Short metacarpal
C1837218 BXGD014207 Cleft palate, isolated Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1837260 BXGD014214 Prominent forehead
C1837404 BXGD014229 High, narrow palate
C1837463 BXGD014235 Narrow face
C1837485 BXGD014239 Flat acetabular roof
C1837658 BXGD014257 Gross motor development delay Mental Disorders
C1838662 BXGD014334 Metaphyseal irregularity
C1839254 BXGD014362 Hypoplasia of the capital femoral epiphysis
C1839758 BXGD014402 Narrow forehead
C1839829 BXGD014413 Short distal phalanx of finger
C1840077 BXGD014434 Anteverted nostril
C1840452 BXGD014471 Hyaloideoretinal degeneration of Wagner Eye Diseases
C1840535 BXGD014475 Abnormality of the carpal bones Musculoskeletal Diseases
C1842153 BXGD014499 Irregular vertebral endplates
C1842155 BXGD014500 Flat capital femoral epiphysis
C1843108 BXGD014556 Short palm
C1844509 BXGD014635 Antegonial notching of mandible
C1844704 BXGD014665 Platyspondyly
C1845847 BXGD014760 Coarse facial features Pathological Conditions, Signs and Symptoms
C1846011 BXGD014774 Pugilistic facies
C1846154 BXGD014788 Anterior rib cupping
C1846434 BXGD014814 Hypoplastic scapulae
C1846435 BXGD014815 Disproportionate short-trunk short stature
C1846439 BXGD014817 Hypoplasia of the odontoid process Musculoskeletal Diseases
C1846442 BXGD014818 Hypoplastic acetabulae
C1848296 BXGD014918 DOSAGE-SENSITIVE SEX REVERSAL Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C1848446 BXGD014925 C1-C2 subluxation
C1848488 BXGD014930 Pierre Robin syndrome with fetal chondrodysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1848673 BXGD014963 Hypoplastic feet
C1849020 BXGD014996 Short metatarsal
C1849039 BXGD014999 Metaphyseal widening
C1849089 BXGD015004 Broad forehead
C1849508 BXGD015060 EPILEPSY, PYRIDOXINE-DEPENDENT Nervous System Diseases
C1849667 BXGD015073 Wide nasal base
C1849937 BXGD015091 Disproportionate short-limb short stature
C1849955 BXGD015094 Limited elbow movement
C1850135 BXGD015112 Flared metaphysis
C1850171 BXGD015120 Neonatal short-limb short stature
C1850293 BXGD015126 Severe platyspondyly
C1850658 BXGD015168 Irregular femoral epiphysis
C1851536 BXGD015216 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1851542 BXGD015217 Limited hip movement
C1852989 BXGD015298 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
C1853241 BXGD015321 Flat face
C1853242 BXGD015322 Midface retrusion
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1854114 BXGD015383 Short nose
C1854301 BXGD015391 Motor delay Mental Disorders
C1854912 BXGD015441 Short long bone
C1854928 BXGD015443 Protuberant abdomen
C1855310 BXGD015485 Megaepiphyseal dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C1855665 BXGD015524 Ovoid vertebral bodies
C1856118 BXGD015576 Prominent nasal tip
C1856599 BXGD015619 Beaking of vertebral bodies
C1856912 BXGD015656 Shortening of all middle phalanges of the fingers
C1857101 BXGD015676 Anisospondyly
C1857108 BXGD015677 Limitation of joint mobility
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1857299 BXGD015693 RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL Eye Diseases
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1857527 BXGD015714 Flattened epiphysis
C1857679 BXGD015735 Sloping forehead
C1858084 BXGD015769 STICKLER SYNDROME, TYPE II (disorder) Eye Diseases; Skin and Connective Tissue Diseases
C1858085 BXGD015770 Malar flattening
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1859111 BXGD015852 Enlarged joints
C1859447 BXGD015892 Hypoplastic ischia
C1859480 BXGD015899 Cone-shaped epiphyses of the phalanges of the hand
C1860191 BXGD015965 Absent vertebral body mineralization
C1860405 BXGD015983 Snowflake vitreoretinal degeneration Eye Diseases
C1860493 BXGD015987 Abnormality of the sternum
C1860601 BXGD015988 Flattened femoral head
C1860614 BXGD015992 ULNAR HYPOPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1861218 BXGD016021 Hypoplastic ilia
C1861324 BXGD016029 Short philtrum
C1861481 BXGD016053 Stickler syndrome, type 3 Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C1861922 BXGD016094 CAMPOMELIC DYSPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1862102 BXGD016102 BRACHYDACTYLY, TYPE E1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1863739 BXGD016194 Narrow femoral neck
C1865014 BXGD016282 Long philtrum
C1865027 BXGD016287 Hypoplastic iliac wing
C1865030 BXGD016288 Hypoplastic pubic bone
C1865037 BXGD016289 Cone-shaped epiphysis
C1865185 BXGD016295 Spondyloepimetaphyseal Dysplasia, Shohat Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1865200 BXGD016298 Delayed epiphyseal ossification
C1866688 BXGD016414 Spondylometaphyseal dysplasia, Algerian type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1866710 BXGD016418 Delayed pubic bone ossification
C1866730 BXGD016419 Rhizomelia
C1867103 BXGD016438 Limited elbow extension
C1867114 BXGD016439 Craniofacial disproportion
C1956089 BXGD016615 Osteophyte Musculoskeletal Diseases
C1962966 BXGD016678 Retinopathy, CTCAE
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C1968611 BXGD016722 Club-shaped proximal femur
C1968949 BXGD016744 Cakut Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2020284 BXGD016881 Stickler syndrome, type 1 Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C2350019 BXGD017066 Solitary Pulmonary Nodule Respiratory Tract Diseases
C2607914 BXGD017148 Allergic rhinitis (disorder) Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases
C2609259 BXGD017173 Symphysis Pubis Dysfunction Pathological Conditions, Signs and Symptoms
C2673410 BXGD017200 Small midface
C2745959 BXGD017570 Spondyloepiphyseal dysplasia, congenita Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2745963 BXGD017571 Kashin-Beck Disease Musculoskeletal Diseases
C2749582 BXGD017627 Dumbbell-shaped long bone
C2827407 BXGD017795 Infectious Otitis Media Otorhinolaryngologic Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C2981150 BXGD018211 Uranostaphyloschisis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C3149908 BXGD018289 Neonatal short-trunk short stature
C3150077 BXGD018291 Mild short stature
C3277226 BXGD018711 Restrictive ventilatory defect
C3489413 BXGD018931 Lipomatosis, Multiple Neoplasms
C3494422 BXGD018966 Retrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C3536734 BXGD019071 Hypoplastic pelvis
C3539168 BXGD019085 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
C3541456 BXGD019096 Spondyloepiphyseal Dysplasia Tarda, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C3549703 BXGD019126 Retinal thinning
C3553764 BXGD019187 Joint hyperflexibility
C3665346 BXGD019278 Unspecified visual loss Pathological Conditions, Signs and Symptoms; Eye Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3665386 BXGD019284 Abnormal vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714514 BXGD019409 Infection Infections
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3805574 BXGD019481 Increased fracture rate
C3805715 BXGD019484 Short stepped shuffling gait Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3806510 BXGD019515 Horizontal ribs
C3808270 BXGD019543 Acetabular spurs
C3887513 BXGD019887 Avascular necrosis Pathological Conditions, Signs and Symptoms
C3887524 BXGD019892 Skin Erosion Skin and Connective Tissue Diseases
C3899646 BXGD020088 Childhood Pilomyxoid Astrocytoma
C4020803 BXGD020482 Abnormal type II collagen
C4020847 BXGD020486 Abnormality of pelvic girdle bone morphology
C4020907 BXGD020493 Metaphyseal dappling
C4020953 BXGD020506 Abnormality of vertebral epiphysis morphology
C4020962 BXGD020512 Enlarged thorax
C4021259 BXGD020601 Limitation of knee mobility
C4021438 BXGD020635 Short distal phalanx of the 2nd finger
C4021499 BXGD020646 Short distal phalanx of the 4th finger
C4021538 BXGD020660 Mild neurosensory hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4021611 BXGD020697 Abnormality of epiphysis morphology
C4021626 BXGD020703 Lethal skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4021630 BXGD020706 Broad long bones
C4021664 BXGD020727 Abnormality of the abdominal wall Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C4021681 BXGD020728 Short distal phalanx of the 3rd finger
C4021744 BXGD020751 Abnormality of the wrist
C4021790 BXGD020782 Abnormality of the skeletal system
C4021847 BXGD020817 Abnormal cartilage collagen
C4021906 BXGD020835 Splayed epiphyses
C4021945 BXGD020837 Abnormality of globe size
C4021973 BXGD020850 Cartilage destruction
C4023175 BXGD021136 Submucous cleft soft palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C4023357 BXGD021163 Maternal teratogenic exposure
C4023808 BXGD021268 Hyperextensibility at elbow
C4023918 BXGD021277 Short hard palate
C4024728 BXGD021389 Delayed calcaneal ossification
C4024996 BXGD021518 Aplasia/Hypoplasia of the lungs
C4025089 BXGD021552 Shortening of all proximal phalanges of the fingers
C4025121 BXGD021561 Metaphyseal enchondromatosis
C4025254 BXGD021609 Absent styloid process of ulna
C4025356 BXGD021651 Abnormal vitreous humor morphology
C4025424 BXGD021661 Abnormality of ulnar metaphysis
C4025628 BXGD021702 Abnormal enchondral ossification
C4025664 BXGD021718 Abnormality of fibula morphology
C4025795 BXGD021793 Short tubular bones of the hand Musculoskeletal Diseases
C4025814 BXGD021806 Abnormality of the metaphysis
C4025844 BXGD021824 Abnormal chorioretinal morphology
C4049796 BXGD021951 Abnormality of cardiovascular system morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4072903 BXGD022020 Primary Caesarian section
C4073118 BXGD022041 Optically empty vitreous
C4082167 BXGD022082 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C4225273 BXGD022204 SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
C4281993 BXGD022418 Neonatal respiratory distress Respiratory Tract Diseases
C4286047 BXGD022468 Deforming arthritis
C4302548 BXGD022543 Dysspondyloenchondromatosis Musculoskeletal Diseases
C4316811 BXGD022703 Abnormality of the nasal septum
C4476938 BXGD022892 Impairment of activities of daily living
C4477006 BXGD022902 Membranous vitreous appearance
C4479260 BXGD022930 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
C4520892 BXGD023046 Otospondylomegaepiphyseal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C4551479 BXGD023309 Schwartz-Jampel Syndrome, Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4551485 BXGD023312 Clinodactyly
C4551516 BXGD023333 Hip pain Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C4551562 BXGD023350 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4553018 BXGD023532 Avascular Necrosis, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0014919 Citrulline 175.1
BXGC0030612 tetraethylene glycol 194.12
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein