Showing entry for Fibroblast growth factor receptor 3


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT008784
Protein NameFibroblast growth factor receptor 3
Uniport IdP22607
GeneFGFR3
Gene Id2261
DomainFGFR3_TM; I-set; Ig_3; Pkinase_Tyr
Pfam PF18123   PF07679   PF07714  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
6. Human Diseases 6.12 Drug resistance: Antineoplastic hsa01521 EGFR tyrosine kinase inhibitor resistance
3. Environmental Information Processing 3.2 Signal transduction hsa04010 MAPK signaling pathway
3. Environmental Information Processing 3.2 Signal transduction hsa04014 Ras signaling pathway
3. Environmental Information Processing 3.2 Signal transduction hsa04015 Rap1 signaling pathway
4. Cellular Processes 4.1 Transport and catabolism hsa04144 Endocytosis
3. Environmental Information Processing 3.2 Signal transduction hsa04151 PI3K-Akt signaling pathway
4. Cellular Processes 4.3 Cellular community - eukaryotes hsa04550 Signaling pathways regulating pluripotency of stem cells
4. Cellular Processes 4.5 Cell motility hsa04810 Regulation of actin cytoskeleton
6. Human Diseases 6.1 Cancers: Overview hsa05200 Pathways in cancer
6. Human Diseases 6.1 Cancers: Overview hsa05206 MicroRNAs in cancer
6. Human Diseases 6.2 Cancers: Specific types hsa05219 Bladder cancer
6. Human Diseases 6.1 Cancers: Overview hsa05230 Central carbon metabolism in cancer
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0070977 bone maturation
Biological Process GO:0030282 bone mineralization
Biological Process GO:0060349 bone morphogenesis
Biological Process GO:0007267 cell-cell signaling
Biological Process GO:0002062 chondrocyte differentiation
Biological Process GO:0035988 chondrocyte proliferation
Biological Process GO:0003416 endochondral bone growth
Biological Process GO:0001958 endochondral ossification
Biological Process GO:1902178 fibroblast growth factor receptor apoptotic signaling pathway
Biological Process GO:0008543 fibroblast growth factor receptor signaling pathway
Biological Process GO:0000165 MAPK cascade
Biological Process GO:0007275 multicellular organism development
Biological Process GO:0048640 negative regulation of developmental growth
Biological Process GO:0018108 peptidyl-tyrosine phosphorylation
Biological Process GO:0008284 positive regulation of cell population proliferation
Biological Process GO:0070374 positive regulation of ERK1 and ERK2 cascade
Biological Process GO:0033674 positive regulation of kinase activity
Biological Process GO:0043410 positive regulation of MAPK cascade
Biological Process GO:0043552 positive regulation of phosphatidylinositol 3-kinase activity
Biological Process GO:0010518 positive regulation of phospholipase activity
Biological Process GO:0051897 positive regulation of protein kinase B signaling
Biological Process GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein
Biological Process GO:0046777 protein autophosphorylation
Biological Process GO:0001501 skeletal system development
Biological Process GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
molecular function GO:0005524 ATP binding
molecular function GO:0005007 fibroblast growth factor-activated receptor activity
molecular function GO:0017134 fibroblast growth factor binding
molecular function GO:0042802 identical protein binding
molecular function GO:0004713 protein tyrosine kinase activity
molecular function GO:0004714 transmembrane receptor protein tyrosine kinase activity
cellular component GO:0009986 cell surface
cellular component GO:0005783 endoplasmic reticulum
cellular component GO:0005576 extracellular region
cellular component GO:0005794 Golgi apparatus
cellular component GO:0005887 integral component of plasma membrane
cellular component GO:0005634 nucleus
cellular component GO:0005886 plasma membrane
cellular component GO:0043235 receptor complex
cellular component GO:0030133 transport vesicle
Reactome
Pathway Id Pathway Name
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-1643685 Disease
R-HSA-1839130 Signaling by activated point mutants of FGFR3
R-HSA-2033514 FGFR3 mutant receptor activation
R-HSA-2033515 t(4;14) translocations of FGFR3
R-HSA-5655332 Signaling by FGFR3 in disease
R-HSA-5663202 Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-8853334 Signaling by FGFR3 fusions in cancer
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0000889 BXGD000018 Acanthosis Nigricans Skin and Connective Tissue 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
C0001418 BXGD000050 Adenocarcinoma Neoplasms
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0002418 BXGD000112 Amblyopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003469 BXGD000195 Anxiety Disorders Mental Disorders
C0003504 BXGD000202 Aortic Valve Insufficiency Cardiovascular 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
C0003864 BXGD000231 Arthritis Musculoskeletal Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0004114 BXGD000255 Astrocytoma Neoplasms
C0004509 BXGD000275 Azoospermia Male Urogenital Diseases
C0004998 BXGD000301 Benign neoplasm of skin Neoplasms; Skin and Connective Tissue Diseases
C0005684 BXGD000319 Malignant neoplasm of urinary bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005695 BXGD000323 Bladder Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0005747 BXGD000332 Blepharospasm Eye Diseases
C0005779 BXGD000336 Blood Coagulation Disorders Hemic and Lymphatic Diseases
C0005890 BXGD000345 Body Height
C0005940 BXGD000352 Bone Diseases Musculoskeletal Diseases
C0005941 BXGD000353 Bone Diseases, Developmental Musculoskeletal Diseases
C0006079 BXGD000365 Bowen's Disease Neoplasms
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007107 BXGD000428 Malignant neoplasm of larynx Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0007114 BXGD000431 Malignant neoplasm of skin Neoplasms; Skin and Connective Tissue Diseases
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007133 BXGD000442 Carcinoma, Papillary Neoplasms
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0007137 BXGD000445 Squamous cell carcinoma Neoplasms
C0007138 BXGD000446 Carcinoma, Transitional Cell Neoplasms
C0007847 BXGD000492 Malignant tumor of cervix Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0007873 BXGD000500 Uterine Cervical Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0008029 BXGD000510 Cherubism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0008297 BXGD000522 Choanal Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0008479 BXGD000544 Chondrosarcoma Neoplasms
C0008497 BXGD000549 Choriocarcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0008626 BXGD000559 Congenital chromosomal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0008924 BXGD000574 Cleft upper lip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009241 BXGD000595 Cognition Disorders Mental Disorders
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009404 BXGD000606 Colorectal Neoplasms Digestive System Diseases; Neoplasms
C0009595 BXGD000617 Obsessive-Compulsive Personality Mental Disorders
C0010273 BXGD000658 Craniofacial Dysostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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
C0010930 BXGD000691 Dacryocystitis Eye Diseases
C0011334 BXGD000716 Dental caries Stomatognathic Diseases
C0011351 BXGD000717 Dental Enamel Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0011570 BXGD000729 Mental Depression Behavior and Behavior Mechanisms
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0011645 BXGD000745 Dermatosis Papulosa Nigra Skin and Connective Tissue Diseases
C0013080 BXGD000797 Down Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System 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
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014065 BXGD000884 Congenital cerebral hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0014084 BXGD000891 Enchondromatosis Musculoskeletal Diseases
C0014474 BXGD000917 Ependymoma Neoplasms
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014547 BXGD000927 Epilepsies, Partial Nervous System Diseases
C0015300 BXGD000973 Exophthalmos Eye 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
C0016781 BXGD001079 Fuchs Endothelial Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0016842 BXGD001083 Congenital pectus excavatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017638 BXGD001132 Glioma Neoplasms
C0018051 BXGD001167 Gonadal Dysgenesis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0018536 BXGD001201 Hallux Valgus Musculoskeletal Diseases
C0018681 BXGD001214 Headache Pathological Conditions, Signs and Symptoms
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
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018965 BXGD001258 Hematuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0019829 BXGD001350 Hodgkin Disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020437 BXGD001381 Hypercalcemia Nutritional and Metabolic Diseases
C0020458 BXGD001393 Hyperhidrosis disorder Skin and Connective Tissue Diseases
C0020492 BXGD001404 Hyperostosis Musculoskeletal Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020608 BXGD001443 Hypodontia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0020630 BXGD001454 Hypophosphatasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0021053 BXGD001476 Immune System Diseases Immune System Diseases
C0022572 BXGD001553 keratoacanthoma Skin and Connective Tissue Diseases
C0022593 BXGD001560 Keratosis Skin and Connective Tissue Diseases
C0022602 BXGD001564 Actinic keratosis Neoplasms; Skin and Connective Tissue Diseases
C0022603 BXGD001565 Seborrheic keratosis Skin and Connective Tissue Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023267 BXGD001626 Fibroid Tumor Neoplasms
C0023418 BXGD001642 leukemia Neoplasms
C0023434 BXGD001643 Chronic Lymphocytic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023465 BXGD001656 Acute monocytic leukemia Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023473 BXGD001661 Myeloid Leukemia, Chronic Neoplasms; Hemic and Lymphatic Diseases
C0023484 BXGD001666 Leukemia, Plasma Cell Neoplasms; Immune System Diseases
C0023518 BXGD001677 Leukocytosis Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
C0023531 BXGD001684 Leukoplakia Pathological Conditions, Signs and Symptoms; Neoplasms
C0023895 BXGD001717 Liver diseases Digestive System Diseases
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024299 BXGD001758 Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024419 BXGD001769 Waldenstrom Macroglobulinemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0024636 BXGD001793 Malocclusion Stomatognathic Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025286 BXGD001850 Meningioma Neoplasms; Nervous System 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
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025995 BXGD001885 Micromelia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026351 BXGD001900 Moderate intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026470 BXGD001903 Monoclonal Gammopathy of Undetermined Significance Immune System Diseases; Hemic and Lymphatic Diseases
C0026552 BXGD001906 Morphine Dependence Chemically-Induced Disorders; Mental Disorders
C0026707 BXGD001922 Mucopolysaccharidosis IV Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0026764 BXGD001928 Multiple Myeloma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026857 BXGD001943 Musculoskeletal Diseases Musculoskeletal Diseases
C0026896 BXGD001946 Myasthenia Gravis Neoplasms; Immune System Diseases; Nervous System Diseases
C0027022 BXGD001962 Myeloproliferative disease Hemic and Lymphatic Diseases
C0027051 BXGD001963 Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027719 BXGD002027 Nephrosclerosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0027960 BXGD002062 Nevus Neoplasms
C0027962 BXGD002064 Melanocytic nevus Neoplasms
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0028768 BXGD002084 Obsessive-Compulsive Disorder Mental Disorders
C0028880 BXGD002097 Odontogenic Tumors Neoplasms
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029172 BXGD002120 Oral Submucous Fibrosis Stomatognathic Diseases
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029421 BXGD002141 Osteochondritis Dissecans Musculoskeletal Diseases
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0029423 BXGD002143 Cartilaginous exostosis Neoplasms; Musculoskeletal Diseases
C0029434 BXGD002146 Osteogenesis Imperfecta Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0029882 BXGD002177 Otitis Media Otorhinolaryngologic Diseases
C0030044 BXGD002186 Acrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0030246 BXGD002198 Pustulosis of Palms and Soles Skin and Connective Tissue Diseases
C0030354 BXGD002214 Papilloma Neoplasms
C0030421 BXGD002218 Paraganglioma Neoplasms
C0031511 BXGD002304 Pheochromocytoma Neoplasms
C0032131 BXGD002330 Plasmacytoma Neoplasms; Immune System Diseases
C0032927 BXGD002381 Precancerous Conditions Neoplasms
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033578 BXGD002408 Prostatic Neoplasms Neoplasms; Male Urogenital Diseases
C0033680 BXGD002414 Protein-Losing Enteropathies Digestive System Diseases
C0033975 BXGD002447 Psychotic Disorders Mental Disorders
C0033999 BXGD002448 Pterygium Eye Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035335 BXGD002540 Retinoblastoma Neoplasms; Eye Diseases
C0035412 BXGD002548 Rhabdomyosarcoma Neoplasms
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036631 BXGD002626 Seminoma Neoplasms
C0036651 BXGD002628 Solar lentigo Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037052 BXGD002662 Sick Sinus Syndrome Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0037090 BXGD002665 Signs and Symptoms, Respiratory Pathological Conditions, Signs and Symptoms
C0037274 BXGD002676 Dermatologic disorders Skin and Connective Tissue Diseases
C0037284 BXGD002679 Skin lesion Skin and Connective Tissue Diseases
C0037285 BXGD002680 Skin Manifestations Pathological Conditions, Signs and Symptoms
C0037286 BXGD002681 Skin Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C0037315 BXGD002687 Sleep Apnea Syndromes Respiratory Tract Diseases; Nervous System Diseases
C0038356 BXGD002747 Stomach Neoplasms Digestive System Diseases; Neoplasms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0038436 BXGD002755 Post-Traumatic Stress Disorder Mental Disorders
C0038525 BXGD002768 Subarachnoid Hemorrhage Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0038644 BXGD002776 Sudden infant death syndrome Pathological Conditions, Signs and Symptoms
C0039075 BXGD002788 Syndactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0039093 BXGD002789 Congenital abnormal Synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0039103 BXGD002791 Synovitis Musculoskeletal Diseases
C0039538 BXGD002819 Teratoma Neoplasms
C0039585 BXGD002821 Androgen-Insensitivity Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0039590 BXGD002822 Testicular Neoplasms Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C0039743 BXGD002827 Thanatophoric Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0040433 BXGD002865 Tooth Crowding Stomatognathic Diseases
C0041207 BXGD002898 Truncus Arteriosus, Persistent Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0041296 BXGD002903 Tuberculosis Infections
C0042769 BXGD002999 Virus Diseases Infections
C0043352 BXGD003045 Xerostomia Stomatognathic Diseases
C0079541 BXGD003081 Holoprosencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0079731 BXGD003087 B-Cell Lymphomas Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0079772 BXGD003099 T-Cell Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0079773 BXGD003100 Lymphoma, T-Cell, Cutaneous Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0079774 BXGD003101 Peripheral T-Cell Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0085138 BXGD003132 Choroid Plexus Neoplasms Neoplasms; Nervous System Diseases
C0085261 BXGD003145 Proteus Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
C0085298 BXGD003155 Sudden Cardiac Death Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0085682 BXGD003238 Hypophosphatemia Nutritional and Metabolic Diseases
C0149782 BXGD003365 Squamous cell carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0149925 BXGD003387 Small cell carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0149931 BXGD003388 Migraine Disorders Nervous System Diseases
C0151313 BXGD003413 Sensory neuropathy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151740 BXGD003468 Intracranial Hypertension Nervous System Diseases
C0151779 BXGD003473 Cutaneous Melanoma Neoplasms; Skin and Connective Tissue Diseases
C0151846 BXGD003485 Periosteal Disorder Musculoskeletal Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152018 BXGD003518 Esophageal carcinoma Digestive System Diseases; Neoplasms
C0152091 BXGD003534 Osteochondropathy Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0152423 BXGD003587 Congenital small ears Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
C0152427 BXGD003590 Polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0153349 BXGD003621 Malignant neoplasm of tongue Neoplasms; Stomatognathic Diseases
C0153594 BXGD003669 Malignant neoplasm of testis Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C0153676 BXGD003679 Secondary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0154017 BXGD003692 Benign neoplasm of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0154091 BXGD003702 Carcinoma in situ of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0155119 BXGD003773 Recurrent erosion of cornea Pathological Conditions, Signs and Symptoms; Eye Diseases
C0155552 BXGD003801 Hearing Loss, Mixed Conductive-Sensorineural Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0158113 BXGD003875 Contracture of joint of hand Musculoskeletal Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0175693 BXGD004001 Russell-Silver syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0175695 BXGD004003 Sotos' syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0175699 BXGD004005 Saethre-Chotzen Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0205647 BXGD004099 Follicular adenoma Neoplasms
C0205851 BXGD004132 Germ cell tumor Neoplasms
C0206624 BXGD004190 Hepatoblastoma Neoplasms
C0206716 BXGD004262 Ganglioglioma Neoplasms
C0206717 BXGD004263 Olfactory Neuroblastoma Neoplasms; Nervous System Diseases
C0206721 BXGD004267 Inverted Papilloma Neoplasms
C0206726 BXGD004271 gliosarcoma Neoplasms
C0206734 BXGD004279 Hemangioblastoma Neoplasms
C0220611 BXGD004295 Childhood Rhabdomyosarcoma Neoplasms
C0220620 BXGD004299 Gastrointestinal Carcinoid Tumor Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0220636 BXGD004304 Malignant neoplasm of salivary gland Neoplasms; Stomatognathic Diseases
C0220658 BXGD004313 Pfeiffer Syndrome 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
C0221352 BXGD004444 Syndactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal 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
C0221369 BXGD004453 Acquired Camptodactyly
C0221373 BXGD004454 Claw hand Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221775 BXGD004480 Lumbar disc disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0234533 BXGD004687 Generalized seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235659 BXGD004763 Reduced fetal movement Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0235754 BXGD004768 Bladder papilloma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0238198 BXGD004893 Gastrointestinal Stromal Tumors Digestive System Diseases; Neoplasms
C0239234 BXGD004974 Low set ears
C0239399 BXGD004981 Short extremities
C0239676 BXGD004989 High forehead
C0240310 BXGD005030 Hypoplasia of the maxilla
C0240538 BXGD005041 Convex nasal ridge
C0241074 BXGD005078 Hyperextensible skin
C0241240 BXGD005089 Tall stature
C0241397 BXGD005095 Triphalangeal thumb Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0243066 BXGD005213 Atresia
C0263361 BXGD005292 Psoriasis vulgaris Skin and Connective Tissue Diseases
C0263641 BXGD005337 Epithelial hyperplasia of skin Pathological Conditions, Signs and Symptoms
C0263661 BXGD005338 Disorder of skeletal system Musculoskeletal Diseases
C0263874 BXGD005352 Degeneration of lumbar intervertebral disc Musculoskeletal Diseases
C0265269 BXGD005494 Lacrimoauriculodentodigital syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0265290 BXGD005503 Metaphyseal chondrodysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265309 BXGD005511 Leri-Weill dyschondrosteosis Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265329 BXGD005518 Organoid Nevus Phakomatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0265529 BXGD005542 Plagiocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265654 BXGD005559 Tarsal Coalition Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265673 BXGD005563 Congenital kyphosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0266061 BXGD005618 Open Bite Stomatognathic Diseases
C0266184 BXGD005627 Congenital duodenal obstruction due to malrotation of intestine Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0266292 BXGD005643 Congenital anomaly of the kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0266294 BXGD005644 Unilateral agenesis of kidney Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0266449 BXGD005670 Congenital anomaly of brain Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
C0266491 BXGD005683 Neuronal heterotopia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266589 BXGD005698 Congenital ear anomaly NOS (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
C0266617 BXGD005700 Congenital anomaly of face Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0270680 BXGD006083 Posterior fossa compression syndrome
C0271441 BXGD006203 Chronic otitis media Otorhinolaryngologic Diseases
C0277828 BXGD006480 Late fontanel closure
C0278080 BXGD006495 Physical addiction Chemically-Induced Disorders; Mental Disorders; Behavior and Behavior Mechanisms
C0278827 BXGD006595 Bladder cancer recurrent Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0278874 BXGD006605 Adult Ependymoma Neoplasms
C0278877 BXGD006608 Adult Meningioma Neoplasms; Nervous System Diseases
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0279546 BXGD006633 Adult Undifferentiated Pleomorphic Sarcoma Neoplasms
C0279550 BXGD006635 Adult Rhabdomyosarcoma Neoplasms
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0279680 BXGD006680 Transitional cell carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0280100 BXGD006713 Solid Neoplasm Neoplasms
C0280218 BXGD006721 stage, bladder cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0280313 BXGD006737 Squamous cell carcinoma of oropharynx Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0280324 BXGD006740 Laryngeal Squamous Cell Carcinoma Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0280631 BXGD006752 Leiomyosarcoma of uterus Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0280781 BXGD006758 Adult Pilocytic Astrocytoma Neoplasms
C0280856 BXGD006767 Squamous cell carcinoma of vulva Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0282102 BXGD006795 Chondrodysplasia punctata, X-linked dominant type Musculoskeletal Diseases
C0282160 BXGD006797 Aplasia Cutis Congenita Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0282529 BXGD006813 Chondrodysplasia Punctata, Rhizomelic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0302142 BXGD006831 Deformity Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0302592 BXGD006851 Cervix carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0302894 BXGD006865 Stucco keratosis Skin and Connective Tissue Diseases
C0334082 BXGD006987 NEVUS, EPIDERMAL (disorder) Neoplasms
C0334265 BXGD007012 Transitional Cell Neoplasm Neoplasms
C0334463 BXGD007076 Malignant Fibrous Histiocytoma Neoplasms
C0334517 BXGD007099 Spermatocytic seminoma Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C0334583 BXGD007124 Pilocytic Astrocytoma Neoplasms
C0334588 BXGD007128 Giant Cell Glioblastoma Neoplasms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0343055 BXGD007593 Generalized pustular psoriasis Skin and Connective Tissue Diseases
C0343284 BXGD007613 Chondrodysplasia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0344315 BXGD007666 Depressed mood Behavior and Behavior Mechanisms
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0344505 BXGD007681 Alacrima Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0345354 BXGD007728 Radial polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0345371 BXGD007729 Hypoplasia of lower limb Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0345375 BXGD007730 Congenital hypoplasia of femur Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0346053 BXGD007770 Atypical fibroxanthoma of skin Neoplasms
C0349204 BXGD007892 Nonorganic psychosis Mental Disorders
C0349588 BXGD007933 Short stature
C0362030 BXGD007958 Verrucous epidermal nevus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0376154 BXGD007980 Skin callus Skin and Connective Tissue Diseases
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0376545 BXGD008002 Hematologic Neoplasms Neoplasms; Hemic and Lymphatic Diseases
C0391826 BXGD008013 Lhermitte-Duclos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0392439 BXGD008041 Acrodermatitis continua of Hallopeau Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0392514 BXGD008051 Hereditary hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0406803 BXGD008373 Syringocystadenoma Papilliferum Neoplasms
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0410529 BXGD008431 Hypochondroplasia (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0410538 BXGD008434 Pseudoachondroplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0410719 BXGD008448 Deformity of bone Musculoskeletal Diseases
C0410916 BXGD008452 Neonatal Death Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0424711 BXGD008541 Orbital separation diminished
C0426789 BXGD008576 Short thorax
C0426790 BXGD008577 Narrow thorax
C0426817 BXGD008585 Short ribs
C0426874 BXGD008593 Trident hand Musculoskeletal Diseases
C0426891 BXGD008595 Broad thumbs
C0431863 BXGD008709 Carpal synostosis
C0432055 BXGD008716 Simple syndactyly of fingers - first web Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0432072 BXGD008718 Dysmorphic features
C0432125 BXGD008726 Bicoronal craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432211 BXGD008737 Spondyloepimetaphyseal disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432283 BXGD008764 Osteoglophonic dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0456070 BXGD008863 Growth delay
C0496930 BXGD009051 Neoplasm of uncertain or unknown behavior of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0520679 BXGD009101 Sleep Apnea, Obstructive Respiratory Tract Diseases; Nervous System Diseases
C0520680 BXGD009102 Sleep Apnea, Central 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
C0522618 BXGD009203 Focal dysplasia
C0544755 BXGD009310 Genu varum Musculoskeletal Diseases
C0544886 BXGD009319 Somatic mutation
C0549306 BXGD009368 Mesomelia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0549523 BXGD009386 Oropharynx (excludes nasopharynx)
C0557874 BXGD009444 Global developmental delay
C0558355 BXGD009452 Tonsillar Carcinoma Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0575484 BXGD009517 Long thorax
C0576226 BXGD009527 Short foot
C0581342 BXGD009560 Redundant skin Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0595989 BXGD009632 Carcinoma of larynx Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0598766 BXGD009669 Leukemogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0598935 BXGD009674 Tumor Initiation Pathological Conditions, Signs and Symptoms; Neoplasms
C0600079 BXGD009688 Ureter Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0677886 BXGD009734 Epithelial ovarian cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0677898 BXGD009735 invasive cancer Neoplasms
C0677932 BXGD009736 Progressive Neoplastic Disease
C0677936 BXGD009737 Refractory cancer Neoplasms
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0685381 BXGD009809 Congenital hypoplasia of radius Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0685409 BXGD009810 Congenital Camptodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0687150 BXGD009842 Parathyroid Gland Adenocarcinoma Neoplasms; Endocrine System Diseases
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0740852 BXGD010011 Upper airway obstruction
C0744483 BXGD010100 growth hormone treatment
C0747085 BXGD010158 Recurrent otitis media Otorhinolaryngologic Diseases
C0751560 BXGD010501 Malignant neoplasm tonsil Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0751571 BXGD010505 Cancer of Urinary Tract Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0751783 BXGD010592 Lafora Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0752347 BXGD010721 Lewy Body Disease Nervous System Diseases; Mental Disorders
C0796611 BXGD010835 Newly Diagnosed Childhood Ependymoma Neoplasms
C0846967 BXGD010865 Acanthoma Neoplasms
C0851140 BXGD010916 Carcinoma in situ of uterine cervix Neoplasms
C0870082 BXGD011309 Hyperkeratosis Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0878659 BXGD011380 Disproportionate short stature Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0878787 BXGD011392 Growth failure
C0947912 BXGD011497 Myasthenias Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0948750 BXGD011551 Salivary gland carcinoma Neoplasms; Stomatognathic Diseases
C1168401 BXGD011792 Squamous cell carcinoma of the head and neck Neoplasms
C1184923 BXGD011800 Lumbar hyperlordosis Musculoskeletal Diseases
C1266010 BXGD011933 Papillary transitional cell neoplasm of low malignant potential
C1269955 BXGD012005 Tumor Cell Invasion
C1275122 BXGD012060 Familial multiple trichoepitheliomata Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
C1275859 BXGD012095 Transitional cell dysplasia
C1281931 BXGD012136 Obstruction of nasolacrimal duct
C1283397 BXGD012162 Deficiency of acetylcholinesterase
C1292769 BXGD012230 Precursor B-cell lymphoblastic leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1300256 BXGD012272 Thanatophoric dysplasia, type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1300257 BXGD012273 Thanatophoric dysplasia, type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1306710 BXGD012372 Facial asymmetry Pathological Conditions, Signs and Symptoms
C1319315 BXGD012415 Adenocarcinoma of large intestine Digestive System Diseases; Neoplasms
C1332206 BXGD012504 Adult Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332271 BXGD012519 Perianal Squamous Intraepithelial Neoplasia
C1332977 BXGD012569 Childhood Leukemia Neoplasms
C1332979 BXGD012571 Childhood Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1332995 BXGD012575 Childhood Pilocytic Astrocytoma Neoplasms
C1334282 BXGD012698 Inverted urothelial papilloma
C1335110 BXGD012761 Oligodendroglial Neoplasm Neoplasms; Nervous System Diseases
C1335473 BXGD012790 Primary chondrosarcoma of bone Neoplasms
C1336078 BXGD012830 Papillary renal cell carcinoma, sporadic Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1336527 BXGD012847 Carcinoma of urinary bladder, superficial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1336708 BXGD012852 Testicular Germ Cell Tumor Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1394030 BXGD012980 Coronal hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1398312 BXGD012999 Narrow palate
C1405984 BXGD013029 Absent radius
C1450010 BXGD013100 Plagiocephaly, Nonsynostotic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1456781 BXGD013123 Benign melanocytic nevus Neoplasms
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1512409 BXGD013188 Hepatocarcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C1519346 BXGD013235 Skin Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C1519670 BXGD013241 Tumor Angiogenesis Pathological Conditions, Signs and Symptoms
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1541567 BXGD013353 Adult Oligodendroglial Tumor
C1561989 BXGD013368 Limbal stem cell deficiency Eye Diseases
C1608408 BXGD013434 Malignant transformation
C1609433 BXGD013438 Congenital absence of kidneys syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1611743 BXGD013456 Familial (FPAH)
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1704272 BXGD013537 Benign Prostatic Hyperplasia Male Urogenital Diseases
C1704423 BXGD013559 Milroy Disease Hemic and Lymphatic Diseases
C1737329 BXGD013728 Dysmorphism Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1762616 BXGD013753 Meningioma, benign, no ICD-O subtype Neoplasms; Nervous System Diseases
C1827293 BXGD013768 Carcinoma of urinary bladder, invasive Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1834931 BXGD014000 Cystic renal dysplasia
C1835473 BXGD014033 Diaphyseal thickening
C1836184 BXGD014088 Short femoral neck
C1836189 BXGD014091 Radial deviation of finger
C1836195 BXGD014094 Short toe
C1836308 BXGD014107 Generalized joint laxity
C1836542 BXGD014129 Depressed nasal bridge
C1836735 BXGD014155 hypopigmented skin patch Skin and Connective Tissue Diseases
C1837081 BXGD014193 Tibial bowing Musculoskeletal Diseases
C1837218 BXGD014207 Cleft palate, isolated Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1837249 BXGD014210 Malformations of Cortical Development, Group II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1837397 BXGD014227 Severe global developmental delay
C1837404 BXGD014229 High, narrow palate
C1837406 BXGD014230 Hypoplasia involving bones of the upper limbs
C1838662 BXGD014334 Metaphyseal irregularity
C1839326 BXGD014367 Abnormal form of the vertebral bodies
C1840077 BXGD014434 Anteverted nostril
C1842083 BXGD014494 Abnormality of the ribs
C1842366 BXGD014512 Low anterior hairline
C1842774 BXGD014536 Hypermelanotic macule
C1842876 BXGD014542 Depressed nasal ridge
C1843108 BXGD014556 Short palm
C1844704 BXGD014665 Platyspondyly
C1845447 BXGD014747 Cupped ears (finding)
C1846460 BXGD014820 Abnormality of the outer ear
C1846474 BXGD014821 Small thenar eminence
C1846950 BXGD014848 Short middle phalanx of finger
C1848673 BXGD014963 Hypoplastic feet
C1849089 BXGD015004 Broad forehead
C1849538 BXGD015064 Delayed eruption of primary teeth
C1849677 BXGD015074 Numerous nevi Neoplasms
C1849937 BXGD015091 Disproportionate short-limb short stature
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1850087 BXGD015107 Narrow sacroiliac notch
C1850135 BXGD015112 Flared metaphysis
C1850171 BXGD015120 Neonatal short-limb short stature
C1850293 BXGD015126 Severe platyspondyly
C1851152 BXGD015202 SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
C1851584 BXGD015221 Childhood Ependymoma Neoplasms
C1852464 BXGD015282 Abnormality of the cervical spine
C1852502 BXGD015286 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT Musculoskeletal Diseases; Stomatognathic Diseases
C1853237 BXGD015319 Isolated cases
C1853241 BXGD015321 Flat face
C1853242 BXGD015322 Midface retrusion
C1854113 BXGD015382 Prominent nasal bridge
C1854301 BXGD015391 Motor delay Mental Disorders
C1854912 BXGD015441 Short long bone
C1855340 BXGD015490 Bowing of the long bones
C1855538 BXGD015507 Small face
C1856136 BXGD015580 Conical incisor
C1856266 BXGD015589 Coronal craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1856660 BXGD015629 Abnormality of the helix
C1857002 BXGD015665 Capitate-hamate fusion
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
C1857624 BXGD015722 COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C1858036 BXGD015763 Periorbital fullness
C1858085 BXGD015770 Malar flattening
C1858430 BXGD015792 Death in infancy
C1858569 BXGD015808 Absence of Stensen duct
C1859460 BXGD015894 Bowed humerus
C1859461 BXGD015895 Femoral bowing Musculoskeletal Diseases
C1860048 BXGD015951 Temporal bossing
C1860050 BXGD015952 Cloverleaf skull
C1860614 BXGD015992 ULNAR HYPOPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1860834 BXGD016006 Infantile muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861213 BXGD016019 Wide-cupped costochondral junctions
C1861217 BXGD016020 Small foramen magnum
C1861218 BXGD016021 Hypoplastic ilia
C1861226 BXGD016022 Small abnormally formed scapulae
C1861305 BXGD016027 TARSAL-CARPAL COALITION SYNDROME Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1861329 BXGD016033 Spinal canal stenosis Musculoskeletal Diseases
C1861869 BXGD016088 Underdeveloped supraorbital ridges
C1861922 BXGD016094 CAMPOMELIC DYSPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1862095 BXGD016100 Bilateral single transverse palmar creases
C1863200 BXGD016155 Lacrimal gland hypoplasia
C1863423 BXGD016180 Lumbar kyphosis in infancy
C1864436 BXGD016228 Muenke Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1864852 BXGD016260 CATSHL syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1864853 BXGD016261 Increased vertebral height
C1864854 BXGD016262 Broad femoral metaphyses
C1865037 BXGD016289 Cone-shaped epiphysis
C1865186 BXGD016296 Bell-shaped thorax
C1866134 BXGD016378 Wide anterior fontanel
C1866689 BXGD016415 Short sacroiliac notch
C1866730 BXGD016419 Rhizomelia
C1867060 BXGD016437 Lacrimal Puncta, Absence of Eye Diseases
C1867103 BXGD016438 Limited elbow extension
C1867131 BXGD016440 Broad hallux
C1867441 BXGD016455 Pterygium Of Conjunctiva And Cornea Eye Diseases
C1867487 BXGD016462 Childhood onset short-limb short stature
C1868678 BXGD016522 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1868683 BXGD016526 B-CELL MALIGNANCY, LOW-GRADE
C1881254 BXGD016585 Inverted Squamous Cell Papilloma Neoplasms
C1883722 BXGD016599 Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7
C1956097 BXGD016617 Wolf-Hirschhorn Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1959632 BXGD016645 Plasma Cell Neoplasm Neoplasms
C1968574 BXGD016716 Hypoplastic lacrimal duct
C2014414 BXGD016880 orthopedic disorders
C2145472 BXGD016931 Urothelial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2674171 BXGD017237 Lethal short-limbed short stature
C2674173 BXGD017238 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2676443 BXGD017333 Proximal radio-ulnar synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2677099 BXGD017357 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C2745963 BXGD017571 Kashin-Beck Disease Musculoskeletal Diseases
C2827469 BXGD017798 Coronary Microvascular Disease
C2919142 BXGD017867 Short Stature, CTCAE
C2930792 BXGD017892 Familial acanthosis nigricans Skin and Connective Tissue Diseases
C2930793 BXGD017893 Achondroplastic dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2931196 BXGD017974 Craniofacial dysostosis type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2931822 BXGD018068 Nasopharyngeal carcinoma Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C2939419 BXGD018178 Secondary Neoplasm Pathological Conditions, Signs and Symptoms; Neoplasms
C2986703 BXGD018240 Overgrowth Syndrome Pathological Conditions, Signs and Symptoms
C3161330 BXGD018511 Profound intellectual disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3179502 BXGD018553 Linear Verrucous Epidermal Nevus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C3272759 BXGD018629 Brain Development Abnormality Mental Disorders
C3276706 BXGD018694 Small Fiber Neuropathy Nervous System Diseases
C3278024 BXGD018727 Enlarged cerebellum
C3278401 BXGD018739 Hypopigmentation of hair
C3278923 BXGD018748 Dilated ventricles (finding)
C3279222 BXGD018751 Aplasia/Hypoplasia of the cerebellum
C3539781 BXGD019086 Progressive cGVHD
C3539878 BXGD019087 Triple Negative Breast Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C3553368 BXGD019170 Limited hip extension
C3553764 BXGD019187 Joint hyperflexibility
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3696898 BXGD019348 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Nervous System Diseases
C3696962 BXGD019350 Coronary microvascular dysfunction Cardiovascular Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806604 BXGD019520 Infantile axial hypotonia
C3811653 BXGD019662 Experimental Organism Basal Cell Carcinoma Neoplasms
C3875321 BXGD019874 Inflammatory dermatosis Skin and Connective Tissue Diseases
C3887875 BXGD019923 Visual field defects Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3899638 BXGD020085 Childhood Undifferentiated Pleomorphic Sarcoma Neoplasms
C4011754 BXGD020115 Nevus, Keratinocytic, Nonepidermolytic Neoplasms
C4020847 BXGD020486 Abnormality of pelvic girdle bone morphology
C4020969 BXGD020517 Inflammatory abnormality of the eye
C4020971 BXGD020518 Abnormality of lower limb joint
C4021164 BXGD020569 Bicoronal synostosis
C4021377 BXGD020618 Prominent crus of helix
C4021386 BXGD020621 Abnormality of the elbow
C4021395 BXGD020625 Abnormality of the antihelix
C4021398 BXGD020627 Metacarpal synostosis
C4021418 BXGD020629 Absent proximal phalanx of thumb
C4021564 BXGD020674 Hypoplasia of the lacrimal punctum
C4021625 BXGD020702 Spinal stenosis with reduced interpedicular distance
C4021626 BXGD020703 Lethal skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4021627 BXGD020704 Bilateral triphalangeal thumbs Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4021723 BXGD020733 Short middle phalanx of toe
C4021750 BXGD020755 Abnormality of femur morphology
C4021768 BXGD020766 Abnormality of metabolism/homeostasis
C4021774 BXGD020770 Camptodactyly of toe
C4021785 BXGD020778 Abnormality of the metacarpal bones Musculoskeletal Diseases
C4021790 BXGD020782 Abnormality of the skeletal system
C4021792 BXGD020783 Abnormality of the clavicle
C4021815 BXGD020801 Abnormal palate morphology
C4023383 BXGD021169 Narrow internal auditory canal
C4023418 BXGD021183 Unicoronal synostosis
C4023676 BXGD021237 Increased nuchal translucency Pathological Conditions, Signs and Symptoms
C4023801 BXGD021265 Fibular bowing Musculoskeletal Diseases
C4024215 BXGD021305 Aplasia of the parotid gland
C4024345 BXGD021321 Radial deviation of the 3rd finger
C4024589 BXGD021330 Aplasia/Hypoplasia of the mandible
C4024822 BXGD021430 Lacrimal gland aplasia
C4024890 BXGD021458 Excessive wrinkled skin
C4024989 BXGD021515 Hereditary nonpolyposis colorectal carcinoma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
C4024996 BXGD021518 Aplasia/Hypoplasia of the lungs
C4025083 BXGD021548 Thimble-shaped middle phalanges of hand
C4025250 BXGD021605 Abnormal sacrum morphology
C4025814 BXGD021806 Abnormality of the metaphysis
C4048328 BXGD021903 cervical cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4049796 BXGD021951 Abnormality of cardiovascular system morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4082168 BXGD022083 Partial duplication of thumb phalanx
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4225629 BXGD022284 SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
C4255010 BXGD022310 Non-ST Elevated Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C4277690 BXGD022377 Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C4282407 BXGD022423 Sparse and thin eyebrow
C4288754 BXGD022484 Metastatic urothelial carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C4316903 BXGD022711 Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4520843 BXGD023043 Pterygium of eye Eye Diseases
C4521042 BXGD023055 Complete Trisomy 21 Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4551464 BXGD023301 Aplasia/hypoplasia of the extremities
C4551584 BXGD023362 Brain atrophy Nervous System Diseases
C4551683 BXGD023389 Adrenal Gland Pheochromocytoma Neoplasms; Endocrine System Diseases
C4552097 BXGD023487 Nevus Sebaceus of Jadassohn Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C4721610 BXGD023760 Carcinoma, Ovarian Epithelial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C4721806 BXGD023772 Carcinoma, Basal Cell Neoplasms
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4722518 BXGD023806 Triple-Negative Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C4725076 BXGD023827 Advanced Urothelial Carcinoma
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
BXGC0002605 Adenosine 267.24
BXGC0012352 Chelerythrine 348.12
BXGC0044857 Sp-600125 220.06
BXGC0045254 Sb-202190 331.11
BXGC0047692 Gefitinib 446.15
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