Showing entry for Fibrillin-1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT009845
Protein NameFibrillin-1
Uniport IdP35555
GeneFBN1
Gene Id2200
DomaincEGF; EGF_CA; Fibrillin_U_N; FXa_inhibition; TB
Pfam PF12662   PF07645   PF18193   PF00683  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
3. Environmental Information Processing 3.2 Signal transduction hsa04350 TGF-beta signaling pathway
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0034199 activation of protein kinase A activity
Biological Process GO:0009653 anatomical structure morphogenesis
Biological Process GO:0043010 camera-type eye development
Biological Process GO:0033627 cell adhesion mediated by integrin
Biological Process GO:0044267 cellular protein metabolic process
Biological Process GO:1990314 cellular response to insulin-like growth factor stimulus
Biological Process GO:0071560 cellular response to transforming growth factor beta stimulus
Biological Process GO:0048048 embryonic eye morphogenesis
Biological Process GO:0030198 extracellular matrix organization
Biological Process GO:0042593 glucose homeostasis
Biological Process GO:0006006 glucose metabolic process
Biological Process GO:0007507 heart development
Biological Process GO:0001656 metanephros development
Biological Process GO:2001205 negative regulation of osteoclast development
Biological Process GO:0045671 negative regulation of osteoclast differentiation
Biological Process GO:0048050 post-embryonic eye morphogenesis
Biological Process GO:0043687 post-translational protein modification
Biological Process GO:0010737 protein kinase A signaling
Biological Process GO:0035582 sequestering of BMP in extracellular matrix
Biological Process GO:0035583 sequestering of TGFbeta in extracellular matrix
Biological Process GO:0001501 skeletal system development
molecular function GO:0005509 calcium ion binding
molecular function GO:0030023 extracellular matrix constituent conferring elasticity
molecular function GO:0005201 extracellular matrix structural constituent
molecular function GO:0008201 heparin binding
molecular function GO:0005179 hormone activity
molecular function GO:0042802 identical protein binding
molecular function GO:0005178 integrin binding
molecular function GO:0044877 protein-containing complex binding
cellular component GO:0005604 basement membrane
cellular component GO:0062023 collagen-containing extracellular matrix
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
cellular component GO:0001527 microfibril
Reactome
Pathway Id Pathway Name
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-1566948 Elastic fibre formation
R-HSA-1566948 Elastic fibre formation
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-216083 Integrin cell surface interactions
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification
R-HSA-8957275 Post-translational protein phosphorylation
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001948 BXGD000091 Alcohol consumption Behavior and Behavior Mechanisms
C0002418 BXGD000112 Amblyopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0002940 BXGD000156 Aneurysm Cardiovascular Diseases
C0002949 BXGD000157 Aneurysm, Dissecting Cardiovascular Diseases
C0003123 BXGD000178 Anorexia Pathological Conditions, Signs and Symptoms
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003469 BXGD000195 Anxiety Disorders Mental Disorders
C0003486 BXGD000197 Aortic Aneurysm Cardiovascular Diseases
C0003493 BXGD000199 Aortic Diseases Cardiovascular Diseases
C0003496 BXGD000200 Aortic Rupture Cardiovascular Diseases; Wounds and Injuries
C0003499 BXGD000201 Supravalvular aortic stenosis Cardiovascular Diseases
C0003504 BXGD000202 Aortic Valve Insufficiency Cardiovascular Diseases
C0003507 BXGD000203 Aortic Valve Stenosis Cardiovascular Diseases
C0003578 BXGD000211 Apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0003706 BXGD000215 Arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0003803 BXGD000220 Arnold Chiari Malformation Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0003811 BXGD000222 Cardiac Arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0003850 BXGD000225 Arteriosclerosis Cardiovascular Diseases
C0004045 BXGD000249 Asphyxia Neonatorum Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0004106 BXGD000254 Astigmatism Eye Diseases
C0004138 BXGD000258 Ataxias, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0004153 BXGD000260 Atherosclerosis Cardiovascular Diseases
C0004238 BXGD000262 Atrial Fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0004936 BXGD000295 Mental disorders Mental Disorders
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0005890 BXGD000345 Body Height
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006625 BXGD000401 Cachexia Pathological Conditions, Signs and Symptoms
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0007140 BXGD000447 Carcinosarcoma Neoplasms
C0007222 BXGD000454 Cardiovascular Diseases Cardiovascular Diseases
C0007766 BXGD000478 Intracranial Aneurysm Nervous System Diseases; Cardiovascular Diseases
C0007787 BXGD000487 Transient Ischemic Attack Nervous System Diseases; Cardiovascular Diseases
C0008031 BXGD000511 Chest Pain Pathological Conditions, Signs and Symptoms
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009319 BXGD000596 Colitis Digestive System Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009451 BXGD000614 Communicating Hydrocephalus Nervous System Diseases
C0009782 BXGD000631 Connective Tissue Diseases Skin and Connective Tissue Diseases
C0010054 BXGD000647 Coronary Arteriosclerosis Cardiovascular Diseases
C0010068 BXGD000648 Coronary heart disease Cardiovascular Diseases
C0010278 BXGD000660 Craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010495 BXGD000674 Cutis Laxa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0011175 BXGD000701 Dehydration Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0011633 BXGD000742 Dermatomyositis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0011644 BXGD000744 Scleroderma Skin and Connective Tissue Diseases
C0011847 BXGD000749 Diabetes Endocrine System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011853 BXGD000752 Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases; Endocrine 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
C0012736 BXGD000785 Dissecting aortic aneurysm Cardiovascular Diseases
C0013274 BXGD000809 Patent ductus arteriosus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013405 BXGD000834 Dyspnea, Paroxysmal Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases
C0013581 BXGD000855 Ectopia Lentis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0013720 BXGD000861 Ehlers-Danlos Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0013990 BXGD000874 Pathological accumulation of air in tissues Pathological Conditions, Signs and Symptoms
C0014118 BXGD000894 Endocarditis Cardiovascular Diseases
C0014175 BXGD000904 Endometriosis Female Urogenital Diseases and Pregnancy Complications
C0015230 BXGD000969 Exanthema Skin and Connective Tissue Diseases
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0015310 BXGD000976 Exotropia Eye Diseases; Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
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
C0016667 BXGD001072 Fragile X Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0016842 BXGD001083 Congenital pectus excavatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0017601 BXGD001125 Glaucoma Eye Diseases
C0017612 BXGD001129 Glaucoma, Open-Angle Eye Diseases
C0017658 BXGD001138 Glomerulonephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0017661 BXGD001139 IGA Glomerulonephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System 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
C0018790 BXGD001221 Cardiac Arrest Cardiovascular Diseases
C0018799 BXGD001224 Heart Diseases Cardiovascular Diseases
C0018800 BXGD001225 Cardiomegaly Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018808 BXGD001229 Heart murmur Pathological Conditions, Signs and Symptoms
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0019079 BXGD001278 Hemoptysis Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0019322 BXGD001317 Umbilical hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0019825 BXGD001349 Hoarseness Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0019829 BXGD001350 Hodgkin Disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0019880 BXGD001351 Homocystinuria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020295 BXGD001372 Hydronephrosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020456 BXGD001392 Hyperglycemia Nutritional and Metabolic Diseases
C0020459 BXGD001394 Hyperinsulinism Nutritional and Metabolic Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020615 BXGD001445 Hypoglycemia Nutritional and Metabolic Diseases
C0021670 BXGD001509 insulinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023267 BXGD001626 Fibroid Tumor Neoplasms
C0023316 BXGD001633 Lens Subluxation Eye Diseases
C0023787 BXGD001698 Lipodystrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0023890 BXGD001713 Liver Cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0023893 BXGD001716 Liver Cirrhosis, Experimental Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0024143 BXGD001741 Lupus Nephritis Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases
C0024299 BXGD001758 Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024433 BXGD001771 Macrostomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0024530 BXGD001783 Malaria Infections
C0024796 BXGD001806 Marfan Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026265 BXGD001894 Diseases of mitral valve Cardiovascular Diseases
C0026266 BXGD001895 Mitral Valve Insufficiency Cardiovascular Diseases
C0026267 BXGD001896 Mitral Valve Prolapse Syndrome Cardiovascular Diseases
C0026269 BXGD001897 Mitral Valve Stenosis Cardiovascular Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0027051 BXGD001963 Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027709 BXGD002026 Nephrocalcinosis Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0029607 BXGD002168 Other emphysema Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0030552 BXGD002238 Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0031090 BXGD002280 Periodontal Diseases Stomatognathic Diseases
C0031099 BXGD002282 Periodontitis Stomatognathic Diseases
C0032326 BXGD002351 Pneumothorax Respiratory Tract Diseases
C0032460 BXGD002355 Polycystic Ovary Syndrome Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0032461 BXGD002356 Polycythemia Hemic and Lymphatic Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033999 BXGD002448 Pterygium Eye Diseases
C0034067 BXGD002456 Pulmonary Emphysema Respiratory Tract Diseases
C0035220 BXGD002512 Respiratory Distress Syndrome, Newborn Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0035305 BXGD002529 Retinal Detachment Eye Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036421 BXGD002613 Systemic Scleroderma Skin and Connective Tissue Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037052 BXGD002662 Sick Sinus Syndrome Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0037268 BXGD002675 Skin Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038013 BXGD002725 Ankylosing spondylitis Musculoskeletal Diseases
C0038016 BXGD002727 Spondylolisthesis Musculoskeletal Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0038525 BXGD002768 Subarachnoid Hemorrhage Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0039075 BXGD002788 Syndactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0039373 BXGD002809 Tay-Sachs Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0039585 BXGD002821 Androgen-Insensitivity Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0039685 BXGD002825 Tetralogy of Fallot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0040420 BXGD002861 Tonometry
C0040427 BXGD002864 Tooth Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0040433 BXGD002865 Tooth Crowding Stomatognathic Diseases
C0040583 BXGD002878 Tracheal Stenosis Respiratory Tract Diseases
C0040961 BXGD002891 Tricuspid Valve Insufficiency Cardiovascular Diseases
C0040962 BXGD002892 Tricuspid Valve Prolapse Cardiovascular Diseases
C0041234 BXGD002901 Chagas Disease Infections
C0041696 BXGD002932 Unipolar Depression Mental Disorders
C0042025 BXGD002950 Urinary Stress Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042133 BXGD002960 Uterine Fibroids Neoplasms
C0042373 BXGD002978 Vascular Diseases Cardiovascular Diseases
C0043194 BXGD003036 Wiskott-Aldrich Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
C0079924 BXGD003103 Oligohydramnios Female Urogenital Diseases and Pregnancy Complications
C0085207 BXGD003140 Gestational Diabetes Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0085413 BXGD003171 Polycystic Kidney, Autosomal Dominant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085436 BXGD003177 Meningitis, Cryptococcal Infections; Nervous System Diseases
C0085580 BXGD003191 Essential Hypertension Cardiovascular Diseases
C0085612 BXGD003204 Ventricular arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0085682 BXGD003238 Hypophosphatemia Nutritional and Metabolic Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0149630 BXGD003334 Bicuspid aortic valve Cardiovascular Diseases
C0149781 BXGD003364 Spontaneous pneumothorax Respiratory Tract Diseases
C0149893 BXGD003381 Secondary glaucoma Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0151744 BXGD003469 Myocardial Ischemia Cardiovascular Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151811 BXGD003478 Subcutaneous nodule Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152235 BXGD003567 Congenital genu recurvatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0152459 BXGD003600 Linear atrophy Pathological Conditions, Signs and Symptoms
C0153662 BXGD003678 Malignant neoplasm of abdomen Neoplasms
C0155111 BXGD003771 Bullous keratopathy Eye Diseases
C0155626 BXGD003806 Acute myocardial infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0158486 BXGD003888 Acquired genu recurvatum Musculoskeletal Diseases
C0158683 BXGD003899 Polycystic liver disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
C0158731 BXGD003902 Congenital pectus carinatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0160390 BXGD003921 Injury of liver Digestive System Diseases; Wounds and Injuries
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0162871 BXGD003996 Aortic Aneurysm, Abdominal Cardiovascular Diseases
C0162872 BXGD003997 Aortic Aneurysm, Thoracic Cardiovascular Diseases
C0175702 BXGD004008 Williams Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
C0175704 BXGD004010 LEOPARD Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C0206062 BXGD004148 Lung Diseases, Interstitial Respiratory Tract Diseases
C0206682 BXGD004237 Follicular thyroid carcinoma Neoplasms
C0206708 BXGD004256 Cervical Intraepithelial Neoplasia Neoplasms
C0220668 BXGD004317 Congenital contractural arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221032 BXGD004374 Familial generalized lipodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0221238 BXGD004415 Mesangial proliferative glomerulonephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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
C0221356 BXGD004448 Brachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221357 BXGD004449 Brachydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221358 BXGD004450 Long narrow head
C0231807 BXGD004524 Dyspnea on exertion Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0232466 BXGD004543 Feeding difficulties
C0235833 BXGD004775 Congenital diaphragmatic hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0238463 BXGD004938 Papillary thyroid carcinoma Neoplasms; Endocrine System Diseases
C0238669 BXGD004952 Aortic root dilatation Cardiovascular Diseases
C0239234 BXGD004974 Low set ears
C0239479 BXGD004982 Round face
C0239676 BXGD004989 High forehead
C0239946 BXGD005010 Fibrosis, Liver Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0240310 BXGD005030 Hypoplasia of the maxilla
C0240543 BXGD005042 Bulbous nose
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0241074 BXGD005078 Hyperextensible skin
C0241165 BXGD005083 Thick skin
C0241240 BXGD005089 Tall stature
C0241355 BXGD005092 Small testicle
C0241868 BXGD005118 acute aortic dissection Cardiovascular Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0242510 BXGD005173 Drug usage Chemically-Induced Disorders; Mental Disorders
C0242698 BXGD005189 Ventricular Dysfunction, Left Cardiovascular Diseases
C0243050 BXGD005212 Cardiovascular Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0263401 BXGD005298 Cutis marmorata Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries
C0263912 BXGD005354 Rotator cuff syndrome Wounds and Injuries
C0264142 BXGD005368 Spade-like hand Musculoskeletal Diseases
C0265004 BXGD005446 Dilatation of aorta Cardiovascular Diseases
C0265287 BXGD005501 Acromicric Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265290 BXGD005503 Metaphyseal chondrodysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265313 BXGD005512 Weill-Marchesani syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0265534 BXGD005543 Scaphycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265646 BXGD005558 Talipes Calcaneovarus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265673 BXGD005563 Congenital kyphosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265701 BXGD005569 Congenital eventration of diaphragm Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
C0266317 BXGD005652 Megacalycosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0267446 BXGD005749 Acute gastroenteritis Digestive System Diseases
C0267716 BXGD005767 Incisional hernia Pathological Conditions, Signs and Symptoms
C0267725 BXGD005768 Paraesophageal hernia Pathological Conditions, Signs and Symptoms
C0268338 BXGD005902 Ehlers-Danlos Syndrome, Type IV Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0268365 BXGD005917 Marfanoid hypermobility syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C0268407 BXGD005936 Senile cardiac amyloidosis Nutritional and Metabolic Diseases; Cardiovascular Diseases
C0268435 BXGD005945 Renal Tubular Acidosis, Type II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0268631 BXGD006017 succinic semialdehyde dehydrogenase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
C0269102 BXGD006053 Endometrioma Female Urogenital Diseases and Pregnancy Complications
C0271183 BXGD006169 Severe myopia Eye Diseases
C0279671 BXGD006677 Cervical Squamous Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0281899 BXGD006788 Prolapsed lumbar disc Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0339573 BXGD007271 Glaucoma, Primary Open Angle Eye Diseases
C0340231 BXGD007309 Tracheobronchomalacia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
C0340543 BXGD007344 Familial primary pulmonary hypertension Respiratory Tract Diseases
C0340629 BXGD007354 Aortic aneurysm without mention of rupture NOS Cardiovascular Diseases
C0340630 BXGD007355 Aortic Aneurysm, Thoracoabdominal Cardiovascular Diseases
C0340643 BXGD007357 Dissection of aorta Cardiovascular Diseases
C0340647 BXGD007358 Distal aortic dissection
C0342317 BXGD007460 Loss of hypoglycemic warning
C0344290 BXGD007662 Vitreoretinal degeneration
C0344529 BXGD007687 Cornea plana Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0344530 BXGD007688 Congenital keratoglobus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0344539 BXGD007690 Hypoplasia of iris Eye Diseases
C0345049 BXGD007716 Ascending aorta dilatation
C0345050 BXGD007717 Congenital aneurysm of ascending aorta Cardiovascular Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0349588 BXGD007933 Short stature
C0362046 BXGD007959 Prediabetes syndrome Nutritional and Metabolic Diseases; Endocrine System Diseases
C0392525 BXGD008052 Nephrolithiasis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0400966 BXGD008266 Non-alcoholic Fatty Liver Disease Digestive System Diseases
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0409495 BXGD008387 Protrusio acetabuli
C0410158 BXGD008408 Muscle damage
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0410702 BXGD008447 Adolescent idiopathic scoliosis Musculoskeletal Diseases
C0410787 BXGD008450 Hereditary Connective Tissue Disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0423276 BXGD008477 Shallow anterior chamber of eye
C0423320 BXGD008480 Iridodonesis Eye Diseases
C0423798 BXGD008510 Increased tendency to bruise Wounds and Injuries
C0424503 BXGD008532 Dysmorphic facies
C0424693 BXGD008540 Broad skull
C0426422 BXGD008562 Narrow nose
C0426790 BXGD008577 Narrow thorax
C0426816 BXGD008584 Absence of rib
C0427144 BXGD008607 Toe-walking gait
C0428851 BXGD008637 Dilatation of pulmonary artery, unspecified
C0431478 BXGD008692 Posteriorly rotated ear
C0431890 BXGD008712 Hypoplasia of thumb Musculoskeletal Diseases
C0432072 BXGD008718 Dysmorphic features
C0456070 BXGD008863 Growth delay
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0476369 BXGD008990 Echocardiogram abnormal
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0524620 BXGD009236 Metabolic Syndrome X Nutritional and Metabolic Diseases
C0541764 BXGD009259 Delayed bone age
C0542514 BXGD009277 Blue sclera Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0546297 BXGD009333 Hallux Varus Musculoskeletal Diseases
C0546884 BXGD009345 Hypovolemia Pathological Conditions, Signs and Symptoms
C0546964 BXGD009348 Genu recurvatum
C0549473 BXGD009384 Thyroid carcinoma Neoplasms; Endocrine System Diseases
C0549629 BXGD009393 Abnormal delivery
C0557874 BXGD009444 Global developmental delay
C0559260 BXGD009466 Congenital scoliosis Musculoskeletal Diseases
C0565599 BXGD009488 Maternal hypertension Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0575802 BXGD009521 Small hand
C0576093 BXGD009525 Knee joint valgus deformity Musculoskeletal Diseases
C0576226 BXGD009527 Short foot
C0578575 BXGD009550 Dissection of proximal aorta
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0595936 BXGD009628 Aqueous Humor Disorders Eye Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0598608 BXGD009668 Hyperhomocysteinemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0677932 BXGD009736 Progressive Neoplastic Disease
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0685732 BXGD009815 Congenital dilatation of pulmonary artery Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0700292 BXGD009884 Hypoxemia Pathological Conditions, Signs and Symptoms
C0729233 BXGD009922 Dissecting aneurysm of the thoracic aorta Cardiovascular Diseases
C0741160 BXGD010025 Aortic Aneurysm, Ruptured Cardiovascular Diseases; Wounds and Injuries
C0742343 BXGD010061 Acute Chest Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases
C0748540 BXGD010199 Scleroderma, Limited Skin and Connective Tissue Diseases
C0751587 BXGD010513 CADASIL Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
C0796022 BXGD010781 Lujan Fryns syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C0852085 BXGD010936 Congenital connective tissue disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0856747 BXGD011112 Aneurysm of ascending aorta Respiratory Tract Diseases; Cardiovascular Diseases
C0871470 BXGD011316 Systolic Pressure
C0877165 BXGD011338 Short phalanx of finger
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0878659 BXGD011380 Disproportionate short stature Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0878660 BXGD011381 Proportionate short stature Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0948008 BXGD011499 Ischemic stroke Nervous System Diseases; Cardiovascular Diseases
C1112654 BXGD011680 Peripheral artery dissection
C1136179 BXGD011712 Hammer Toe Musculoskeletal Diseases
C1142533 BXGD011758 Smooth philtrum
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1184923 BXGD011800 Lumbar hyperlordosis Musculoskeletal Diseases
C1257963 BXGD011818 Endogenous Hyperinsulinism Nutritional and Metabolic Diseases
C1257964 BXGD011819 Exogenous Hyperinsulinism Nutritional and Metabolic Diseases
C1257965 BXGD011820 Compensatory Hyperinsulinemia Nutritional and Metabolic Diseases
C1258104 BXGD011823 Diffuse Scleroderma Skin and Connective Tissue Diseases
C1262477 BXGD011882 Weight decreased Pathological Conditions, Signs and Symptoms
C1266089 BXGD011954 Metaplastic carcinoma Neoplasms
C1269683 BXGD012001 Major Depressive Disorder Mental Disorders
C1269955 BXGD012005 Tumor Cell Invasion
C1271219 BXGD012008 Congenital ectopic pupil Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C1280433 BXGD012125 Lipoatrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C1298820 BXGD012252 Aneurysm of aortic root Cardiovascular Diseases
C1299432 BXGD012257 Multi vessel coronary artery disease Cardiovascular Diseases
C1301700 BXGD012296 Cardiovascular morbidity
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1306710 BXGD012372 Facial asymmetry Pathological Conditions, Signs and Symptoms
C1321551 BXGD012436 Shprintzen-Goldberg syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C1332206 BXGD012504 Adult Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332979 BXGD012571 Childhood Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1334708 BXGD012732 Metaplastic carcinoma of breast
C1388233 BXGD012961 Aneurysm of descending thoracic aorta Cardiovascular Diseases
C1397307 BXGD012996 Cardiac fibrosis
C1398312 BXGD012999 Narrow palate
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1561643 BXGD013363 Chronic Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1562061 BXGD013370 Microspherophakia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1578482 BXGD013427 Valgus deformities of feet Musculoskeletal Diseases
C1611743 BXGD013456 Familial (FPAH)
C1704375 BXGD013551 Hypophosphatemic Rickets Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C1720164 BXGD013666 Central corneal thickness
C1720383 BXGD013671 Simple ectopia lentis Eye Diseases
C1737329 BXGD013728 Dysmorphism Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1800706 BXGD013755 Idiopathic Pulmonary Fibrosis Respiratory Tract Diseases
C1812607 BXGD013761 Aortic aneurysm and dissection
C1827700 BXGD013777 Luxation of lens Eye Diseases
C1833325 BXGD013913 Thin bony cortex
C1835117 BXGD014012 Increased axial length of the globe
C1835121 BXGD014013 Premature osteoarthritis Musculoskeletal Diseases
C1835130 BXGD014014 Premature calcification of mitral annulus
C1836047 BXGD014074 Long face
C1836195 BXGD014094 Short toe
C1836542 BXGD014129 Depressed nasal bridge
C1836653 BXGD014143 Ascending aortic dissection Cardiovascular Diseases
C1836996 BXGD014183 Disproportionate tall stature
C1837084 BXGD014195 Short metacarpal
C1837108 BXGD014199 Decreased muscle mass
C1837260 BXGD014214 Prominent forehead
C1837404 BXGD014229 High, narrow palate
C1837463 BXGD014235 Narrow face
C1837522 BXGD014244 Impaired pain sensation
C1837731 BXGD014260 Overfolded helix
C1839259 BXGD014363 Bulbo-Spinal Atrophy, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1839326 BXGD014367 Abnormal form of the vertebral bodies
C1839739 BXGD014400 Thick lower lip vermilion
C1839797 BXGD014409 Deep philtrum
C1840077 BXGD014434 Anteverted nostril
C1842229 BXGD014505 Broad metacarpals
C1842231 BXGD014506 Broad metatarsal
C1843108 BXGD014556 Short palm
C1844548 BXGD014642 Hypoplastic finger
C1844577 BXGD014647 Hyperextensibility of the finger joints
C1844820 BXGD014681 Range of joint movement increased
C1848654 BXGD014958 Broad ribs
C1848673 BXGD014963 Hypoplastic feet
C1849075 BXGD015002 Relative macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1849265 BXGD015028 Overgrowth
C1849367 BXGD015046 Nasal bridge wide
C1851286 BXGD015204 Ectopia lentis isolated Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1851712 BXGD015227 Dural ectasia
C1852504 BXGD015287 Misalignment of teeth
C1853242 BXGD015322 Midface retrusion
C1853738 BXGD015357 Long eyelashes
C1854113 BXGD015382 Prominent nasal bridge
C1854114 BXGD015383 Short nose
C1854301 BXGD015391 Motor delay Mental Disorders
C1854912 BXGD015441 Short long bone
C1855285 BXGD015483 Protruding ear
C1855520 BXGD015506 Hyperglycemia, Postprandial Nutritional and Metabolic Diseases
C1855665 BXGD015524 Ovoid vertebral bodies
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
C1857482 BXGD015706 Slender finger
C1857640 BXGD015726 Decreased nerve conduction velocity
C1857657 BXGD015732 Reduced subcutaneous adipose tissue
C1858085 BXGD015770 Malar flattening
C1858556 BXGD015805 OVERLAP CONNECTIVE TISSUE DISEASE Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases
C1860493 BXGD015987 Abnormality of the sternum
C1861329 BXGD016033 Spinal canal stenosis Musculoskeletal Diseases
C1861456 BXGD016051 Stiff Skin Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C1865014 BXGD016282 Long philtrum
C1865017 BXGD016283 Thin upper lip vermilion
C1865037 BXGD016289 Cone-shaped epiphysis
C1865244 BXGD016301 Shallow orbits Eye Diseases
C1866231 BXGD016388 Full cheeks
C1866956 BXGD016428 Aortic root dilation
C1867103 BXGD016438 Limited elbow extension
C1867441 BXGD016455 Pterygium Of Conjunctiva And Cornea Eye Diseases
C1869114 BXGD016547 Weill-Marchesani Syndrome, Autosomal Recessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C1869115 BXGD016548 Weill-Marchesani Syndrome, Autosomal Dominant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C1956257 BXGD016623 Pulmonary Stenosis Cardiovascular Diseases
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2004489 BXGD016873 Regurgitation
C2243051 BXGD017008 Large head (disorder)
C2316787 BXGD017029 Chronic kidney disease stage 3 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2673410 BXGD017200 Small midface
C2697932 BXGD017440 Loeys-Dietz Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
C2698016 BXGD017443 Marfan Syndrome Type II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C2746069 BXGD017575 Familial ectopia lentis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C2748355 BXGD017587 Descending thoracic aortic dissection
C2748518 BXGD017593 Lumbar scoliosis
C2750787 BXGD017679 Weill-Marchesani-Like Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases
C2751492 BXGD017718 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C2931588 BXGD018038 GEMSS syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
C3150613 BXGD018311 Long toe
C3164445 BXGD018529 Abnormality of aortic valve
C3178782 BXGD018536 Aortic Stiffness
C3258293 BXGD018588 Valvular disease
C3276324 BXGD018689 Fifth metacarpal with ulnar notch
C3276815 BXGD018696 Stiff skin
C3278923 BXGD018748 Dilated ventricles (finding)
C3280054 BXGD018798 GELEOPHYSIC DYSPLASIA 2
C3489726 BXGD018943 Geleophysic dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C3494422 BXGD018966 Retrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C3495559 BXGD018994 Juvenile arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C3539781 BXGD019086 Progressive cGVHD
C3541518 BXGD019098 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
C3553764 BXGD019187 Joint hyperflexibility
C3554617 BXGD019228 Adducted thumb Musculoskeletal Diseases
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
C3714524 BXGD019410 Fibromyxosarcoma Neoplasms
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3714757 BXGD019430 Juvenile rheumatoid arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C3714948 BXGD019440 PACHYONYCHIA CONGENITA 3
C3805726 BXGD019485 Medial rotation of the medial malleolus Musculoskeletal Diseases
C3824872 BXGD019678 Obesity in animals Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C3887898 BXGD019926 Infantile Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3897045 BXGD020045 Short Stature Homeobox Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C4011556 BXGD020113 Abnormal eyebrow morphology
C4016052 BXGD020263 MARFAN SYNDROME, SEVERE CLASSIC
C4016053 BXGD020264 MARFAN SYNDROME, MILD VARIABLE
C4016054 BXGD020265 Neonatal Marfan syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C4016055 BXGD020266 MARFAN SYNDROME, ATYPICAL
C4016056 BXGD020267 MARFAN SYNDROME, MILD
C4016059 BXGD020268 MARFAN SYNDROME, AUTOSOMAL RECESSIVE
C4020962 BXGD020512 Enlarged thorax
C4021133 BXGD020563 Left ventricular noncompaction cardiomyopathy Pathological Conditions, Signs and Symptoms
C4021391 BXGD020623 Broad phalanges of the hand
C4021611 BXGD020697 Abnormality of epiphysis morphology
C4021750 BXGD020755 Abnormality of femur morphology
C4021790 BXGD020782 Abnormality of the skeletal system
C4021959 BXGD020841 Round ear
C4021998 BXGD020862 Lack of skin elasticity
C4022729 BXGD020969 Increased arm span
C4022878 BXGD021026 Descending aortic dissection Cardiovascular Diseases
C4023359 BXGD021165 Abnormal maternal serum screening
C4023909 BXGD021272 Aplasia/Hypoplasia of the abdominal wall musculature
C4024166 BXGD021294 Crumpled ear
C4024737 BXGD021397 Aplasia/Hypoplasia of the skin
C4025148 BXGD021567 Hyperextensible thumb
C4025272 BXGD021615 Peripheral arterial stenosis
C4025596 BXGD021684 Abnormality of connective tissue
C4025690 BXGD021734 Prenatal maternal abnormality
C4025752 BXGD021776 Abnormal cardiac ventricle morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4025814 BXGD021806 Abnormality of the metaphysis
C4025845 BXGD021825 Abnormality iris morphology
C4025886 BXGD021846 Severe periodontitis Stomatognathic Diseases
C4049796 BXGD021951 Abnormality of cardiovascular system morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4072908 BXGD022022 Induced vaginal delivery
C4277521 BXGD022373 Cerebrospinal Fluid Hypovolemia Nervous System Diseases
C4281993 BXGD022418 Neonatal respiratory distress Respiratory Tract Diseases
C4310796 BXGD022670 MARFAN LIPODYSTROPHY SYNDROME
C4313505 BXGD022693 Bilateral hallux valgus
C4317107 BXGD022724 Abnormality of the thyroid gland
C4317112 BXGD022726 Generalized Lipodystrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C4476540 BXGD022824 Dilatation of the cerebral artery Nervous System Diseases; Cardiovascular Diseases
C4476554 BXGD022829 Carotid artery dilatation
C4520843 BXGD023043 Pterygium of eye Eye Diseases
C4551596 BXGD023368 Abnormal renal morphology
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4707243 BXGD023712 Familial thoracic aortic aneurysm and aortic dissection
C4721438 BXGD023741 Mitral valve dysplasia Cardiovascular Diseases
C4721845 BXGD023778 Marfan Syndrome, Type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002586 Calcium 40.08
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