Showing entry for Fibroblast growth factor receptor 2


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT008691
Protein NameFibroblast growth factor receptor 2
Uniport IdP21802
GeneFGFR2
Gene Id2263
DomainFGFR3_TM; I-set; 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 6.2 Cancers: Specific types hsa05215 Prostate cancer
6. Human Diseases 6.2 Cancers: Specific types hsa05226 Gastric 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:0001525 angiogenesis
Biological Process GO:0009887 animal organ morphogenesis
Biological Process GO:0006915 apoptotic process
Biological Process GO:0007409 axonogenesis
Biological Process GO:0060348 bone development
Biological Process GO:0030282 bone mineralization
Biological Process GO:0060349 bone morphogenesis
Biological Process GO:0060667 branch elongation involved in salivary gland morphogenesis
Biological Process GO:0060670 branching involved in labyrinthine layer morphogenesis
Biological Process GO:0060442 branching involved in prostate gland morphogenesis
Biological Process GO:0060445 branching involved in salivary gland morphogenesis
Biological Process GO:0048755 branching morphogenesis of a nerve
Biological Process GO:0060449 bud elongation involved in lung branching
Biological Process GO:0007267 cell-cell signaling
Biological Process GO:0045165 cell fate commitment
Biological Process GO:0071300 cellular response to retinoic acid
Biological Process GO:0071560 cellular response to transforming growth factor beta stimulus
Biological Process GO:0048565 digestive tract development
Biological Process GO:0048701 embryonic cranial skeleton morphogenesis
Biological Process GO:0048557 embryonic digestive tract morphogenesis
Biological Process GO:0048568 embryonic organ development
Biological Process GO:0048562 embryonic organ morphogenesis
Biological Process GO:0009880 embryonic pattern specification
Biological Process GO:0003416 endochondral bone growth
Biological Process GO:0048730 epidermis morphogenesis
Biological Process GO:0030855 epithelial cell differentiation
Biological Process GO:0060664 epithelial cell proliferation involved in salivary gland morphogenesis
Biological Process GO:0001837 epithelial to mesenchymal transition
Biological Process GO:0008543 fibroblast growth factor receptor signaling pathway
Biological Process GO:0035603 fibroblast growth factor receptor signaling pathway involved in hemopoiesis
Biological Process GO:0060595 fibroblast growth factor receptor signaling pathway involved in mammary gland specification
Biological Process GO:0035602 fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell
Biological Process GO:0035607 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
Biological Process GO:0035604 fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow
Biological Process GO:0022612 gland morphogenesis
Biological Process GO:0031069 hair follicle morphogenesis
Biological Process GO:0042472 inner ear morphogenesis
Biological Process GO:0001701 in utero embryonic development
Biological Process GO:0032808 lacrimal gland development
Biological Process GO:0060601 lateral sprouting from an epithelium
Biological Process GO:0060174 limb bud formation
Biological Process GO:0048286 lung alveolus development
Biological Process GO:0060484 lung-associated mesenchyme development
Biological Process GO:0030324 lung development
Biological Process GO:0060463 lung lobe morphogenesis
Biological Process GO:0060615 mammary gland bud formation
Biological Process GO:0000165 MAPK cascade
Biological Process GO:0003149 membranous septum morphogenesis
Biological Process GO:0048762 mesenchymal cell differentiation
Biological Process GO:0060915 mesenchymal cell differentiation involved in lung development
Biological Process GO:0060916 mesenchymal cell proliferation involved in lung development
Biological Process GO:0048333 mesodermal cell differentiation
Biological Process GO:0030901 midbrain development
Biological Process GO:0016331 morphogenesis of embryonic epithelium
Biological Process GO:0007275 multicellular organism development
Biological Process GO:0010839 negative regulation of keratinocyte proliferation
Biological Process GO:0000122 negative regulation of transcription by RNA polymerase II
Biological Process GO:0042476 odontogenesis
Biological Process GO:0021769 orbitofrontal cortex development
Biological Process GO:0035265 organ growth
Biological Process GO:0030916 otic vesicle formation
Biological Process GO:0003148 outflow tract septum morphogenesis
Biological Process GO:0018108 peptidyl-tyrosine phosphorylation
Biological Process GO:0090263 positive regulation of canonical Wnt signaling pathway
Biological Process GO:0060045 positive regulation of cardiac muscle cell proliferation
Biological Process GO:0045787 positive regulation of cell cycle
Biological Process GO:0051781 positive regulation of cell division
Biological Process GO:0008284 positive regulation of cell population proliferation
Biological Process GO:0050679 positive regulation of epithelial cell proliferation
Biological Process GO:0060501 positive regulation of epithelial cell proliferation involved in lung morphogenesis
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:0002053 positive regulation of mesenchymal cell proliferation
Biological Process GO:0010518 positive regulation of phospholipase activity
Biological Process GO:0051897 positive regulation of protein kinase B signaling
Biological Process GO:0048661 positive regulation of smooth muscle cell proliferation
Biological Process GO:0045944 positive regulation of transcription by RNA polymerase II
Biological Process GO:0030177 positive regulation of Wnt signaling pathway
Biological Process GO:0009791 post-embryonic development
Biological Process GO:0060527 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
Biological Process GO:0060523 prostate epithelial cord elongation
Biological Process GO:0060512 prostate gland morphogenesis
Biological Process GO:0046777 protein autophosphorylation
Biological Process GO:0021860 pyramidal neuron development
Biological Process GO:0070372 regulation of ERK1 and ERK2 cascade
Biological Process GO:0060688 regulation of morphogenesis of a branching structure
Biological Process GO:0045667 regulation of osteoblast differentiation
Biological Process GO:0033688 regulation of osteoblast proliferation
Biological Process GO:0008589 regulation of smoothened signaling pathway
Biological Process GO:0051150 regulation of smooth muscle cell differentiation
Biological Process GO:0048608 reproductive structure development
Biological Process GO:0045471 response to ethanol
Biological Process GO:0032496 response to lipopolysaccharide
Biological Process GO:0048705 skeletal system morphogenesis
Biological Process GO:0060529 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development
Biological Process GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
Biological Process GO:0001657 ureteric bud development
Biological Process GO:0055010 ventricular cardiac muscle tissue morphogenesis
Biological Process GO:0021847 ventricular zone neuroblast division
Biological Process GO:0042060 wound healing
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:0008201 heparin binding
molecular function GO:0042802 identical protein binding
molecular function GO:0042803 protein homodimerization activity
molecular function GO:0004713 protein tyrosine kinase activity
molecular function GO:0004714 transmembrane receptor protein tyrosine kinase activity
cellular component GO:0005938 cell cortex
cellular component GO:0009986 cell surface
cellular component GO:0005737 cytoplasm
cellular component GO:0031410 cytoplasmic vesicle
cellular component GO:0060076 excitatory synapse
cellular component GO:0005576 extracellular region
cellular component GO:0005794 Golgi apparatus
cellular component GO:0016021 integral component of membrane
cellular component GO:0005887 integral component of plasma membrane
cellular component GO:0016020 membrane
cellular component GO:0005634 nucleus
cellular component GO:0005886 plasma membrane
cellular component GO:0043235 receptor complex
Reactome
Pathway Id Pathway Name
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-1643685 Disease
R-HSA-1643685 Disease
R-HSA-1839126 FGFR2 mutant receptor activation
R-HSA-1839126 FGFR2 mutant receptor activation
R-HSA-2023837 Signaling by FGFR2 amplification mutants
R-HSA-2033519 Activated point mutants of FGFR2
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5663202 Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-5663202 Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-8851708 Signaling by FGFR2 IIIa TM
R-HSA-8853333 Signaling by FGFR2 fusions
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
C0000846 BXGD000015 Agenesis
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
C0002418 BXGD000112 Amblyopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0002448 BXGD000115 Ameloblastoma Neoplasms
C0003090 BXGD000175 Ankylosis Musculoskeletal Diseases
C0003466 BXGD000193 Anus, Imperforate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System 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
C0003868 BXGD000233 Arthritis, Gouty Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0003962 BXGD000244 Ascites Pathological Conditions, Signs and Symptoms
C0004114 BXGD000255 Astrocytoma Neoplasms
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0004763 BXGD000289 Barrett Esophagus Digestive System Diseases; Neoplasms
C0004936 BXGD000295 Mental disorders Mental Disorders
C0005129 BXGD000304 Bernard-Soulier Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0005586 BXGD000315 Bipolar Disorder Mental Disorders
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
C0006012 BXGD000360 Borderline Personality Disorder Mental Disorders
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006287 BXGD000390 Bronchopulmonary Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007103 BXGD000426 Malignant neoplasm of endometrium Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0007104 BXGD000427 Female Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0007113 BXGD000430 Rectal Carcinoma Digestive System Diseases; Neoplasms
C0007114 BXGD000431 Malignant neoplasm of skin Neoplasms; Skin and Connective Tissue Diseases
C0007115 BXGD000432 Malignant neoplasm of thyroid Neoplasms; Endocrine System 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
C0007135 BXGD000444 Adenocarcinoma, Scirrhous Neoplasms
C0007137 BXGD000445 Squamous cell carcinoma Neoplasms
C0007138 BXGD000446 Carcinoma, Transitional Cell Neoplasms
C0007140 BXGD000447 Carcinosarcoma Neoplasms
C0007847 BXGD000492 Malignant tumor of cervix Neoplasms; Female Urogenital Diseases and Pregnancy Complications
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
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
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009404 BXGD000606 Colorectal Neoplasms Digestive System Diseases; Neoplasms
C0009763 BXGD000628 Conjunctivitis Eye Diseases
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
C0010668 BXGD000681 Cystic Adenomatoid Malformation of Lung, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0010674 BXGD000683 Cystic Fibrosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract 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
C0011757 BXGD000747 Developmental Coordination Disorder Mental Disorders
C0012569 BXGD000777 Diplopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0013069 BXGD000796 Double Outlet Right Ventricle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013377 BXGD000825 Dysgerminoma Neoplasms
C0013393 BXGD000829 Dysostoses Musculoskeletal Diseases
C0013990 BXGD000874 Pathological accumulation of air in tissues Pathological Conditions, Signs and Symptoms
C0014116 BXGD000892 Endocardial Cushion Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0014170 BXGD000902 Endometrial Neoplasms Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0014175 BXGD000904 Endometriosis Female Urogenital Diseases and Pregnancy Complications
C0014850 BXGD000957 Esophageal Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0017525 BXGD001112 Giant Cell Tumors Neoplasms
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017638 BXGD001132 Glioma Neoplasms
C0018099 BXGD001172 Gout Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0018536 BXGD001201 Hallux Valgus Musculoskeletal Diseases
C0018553 BXGD001203 Hamartoma Syndrome, Multiple Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0018671 BXGD001211 Head and Neck Neoplasms Neoplasms
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
C0018798 BXGD001223 Congenital Heart Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular 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
C0018952 BXGD001257 Extramedullary Hematopoiesis Function
C0019214 BXGD001307 Hepatosplenomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
C0019572 BXGD001338 Hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue 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
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020295 BXGD001372 Hydronephrosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020302 BXGD001373 Hydrophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020608 BXGD001443 Hypodontia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0020796 BXGD001468 Profound Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0021390 BXGD001503 Inflammatory Bowel Diseases Digestive System Diseases
C0021828 BXGD001515 Intestinal Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0022568 BXGD001552 Keratitis Eye Diseases
C0023418 BXGD001642 leukemia Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023531 BXGD001684 Leukoplakia Pathological Conditions, Signs and Symptoms; Neoplasms
C0023890 BXGD001713 Liver Cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024121 BXGD001735 Lung Neoplasms Neoplasms; Respiratory Tract Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0024636 BXGD001793 Malocclusion Stomatognathic Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025363 BXGD001867 Mental Retardation, Psychosocial Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025490 BXGD001873 Mesonephroma Neoplasms
C0025500 BXGD001874 Mesothelioma Neoplasms
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0025995 BXGD001885 Micromelia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026277 BXGD001899 Mixed Salivary Gland Tumor Neoplasms
C0026351 BXGD001900 Moderate intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026499 BXGD001905 Monosomy Pathological Conditions, Signs and Symptoms
C0026613 BXGD001908 Motor Skills Disorders Mental Disorders
C0027439 BXGD001990 Nasopharyngeal Neoplasms Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0027443 BXGD001992 Natal Teeth
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
C0027962 BXGD002064 Melanocytic nevus Neoplasms
C0028259 BXGD002073 Nodule
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029172 BXGD002120 Oral Submucous Fibrosis Stomatognathic Diseases
C0029182 BXGD002121 orbit (eye disorders) Eye Diseases
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0030044 BXGD002186 Acrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0030297 BXGD002204 Pancreatic Neoplasm Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0031094 BXGD002281 Periodontal Pocket Stomatognathic Diseases
C0032000 BXGD002318 Pituitary Adenoma Neoplasms; Nervous System Diseases; Endocrine System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033578 BXGD002408 Prostatic Neoplasms Neoplasms; Male Urogenital Diseases
C0033975 BXGD002447 Psychotic Disorders Mental Disorders
C0034069 BXGD002458 Pulmonary Fibrosis Respiratory Tract Diseases
C0034194 BXGD002472 Pyloric Stenosis Digestive System Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0035335 BXGD002540 Retinoblastoma Neoplasms; Eye Diseases
C0036220 BXGD002587 Kaposi Sarcoma Neoplasms; Infections
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037268 BXGD002675 Skin Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0037274 BXGD002676 Dermatologic disorders Skin and Connective Tissue Diseases
C0037286 BXGD002681 Skin Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C0037293 BXGD002684 Skin tag Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases
C0037315 BXGD002687 Sleep Apnea Syndromes Respiratory Tract Diseases; Nervous System Diseases
C0038219 BXGD002739 Status Dysraphicus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0038273 BXGD002743 Stereotypic Movement Disorder Mental Disorders
C0038356 BXGD002747 Stomach Neoplasms Digestive System Diseases; Neoplasms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
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
C0039101 BXGD002790 synovial sarcoma Neoplasms
C0039144 BXGD002796 Syringomyelia Nervous System Diseases
C0039590 BXGD002822 Testicular Neoplasms Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0040136 BXGD002845 Thyroid Neoplasm Neoplasms; Endocrine System Diseases
C0040427 BXGD002864 Tooth Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0040433 BXGD002865 Tooth Crowding Stomatognathic Diseases
C0040588 BXGD002879 Tracheoesophageal Fistula Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases
C0042063 BXGD002953 Urogenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042580 BXGD002992 Vesico-Ureteral Reflux Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042769 BXGD002999 Virus Diseases Infections
C0042900 BXGD003012 Vitiligo Skin and Connective Tissue Diseases
C0043352 BXGD003045 Xerostomia Stomatognathic Diseases
C0078981 BXGD003059 Arachnoid Cysts Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0079731 BXGD003087 B-Cell Lymphomas Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0080178 BXGD003107 Spina Bifida Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0085281 BXGD003152 Addictive Behavior Behavior and Behavior Mechanisms
C0085413 BXGD003171 Polycystic Kidney, Autosomal Dominant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085750 BXGD003249 Adenosis of Breast Skin and Connective Tissue Diseases
C0086692 BXGD003306 Benign Neoplasm Neoplasms
C0149782 BXGD003365 Squamous cell carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0149931 BXGD003388 Migraine Disorders Nervous System Diseases
C0151468 BXGD003424 Thyroid Gland Follicular Adenoma Neoplasms; Endocrine System Diseases
C0151650 BXGD003454 Renal fibrosis Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0151740 BXGD003468 Intracranial Hypertension Nervous System Diseases
C0151811 BXGD003478 Subcutaneous nodule Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0151846 BXGD003485 Periosteal Disorder Musculoskeletal Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152018 BXGD003518 Esophageal carcinoma Digestive System Diseases; Neoplasms
C0152021 BXGD003520 Congenital heart disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0152171 BXGD003552 Idiopathic pulmonary hypertension Respiratory Tract Diseases; Cardiovascular Diseases
C0152421 BXGD003586 Macrotia
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
C0152459 BXGD003600 Linear atrophy Pathological Conditions, Signs and Symptoms
C0153425 BXGD003641 Malignant tumor of small intestine Digestive System Diseases; Neoplasms
C0153574 BXGD003667 Malignant Uterine Corpus Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0153690 BXGD003684 Secondary malignant neoplasm of bone Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases
C0153943 BXGD003689 Benign neoplasm of stomach Digestive System Diseases; Neoplasms
C0154060 BXGD003697 Carcinoma in situ of stomach Digestive System Diseases; Neoplasms
C0154084 BXGD003699 Stage 0 Breast Carcinoma Neoplasms; Skin and Connective Tissue 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
C0156394 BXGD003856 Hypertrophy of clitoris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0158646 BXGD003897 Cleft palate with cleft lip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0158761 BXGD003905 Radioulnar Synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
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
C0201544 BXGD004050 Prostate specific antigen measurement
C0205647 BXGD004099 Follicular adenoma Neoplasms
C0206634 BXGD004199 Liposarcoma, Myxoid Neoplasms
C0206644 BXGD004209 Histiocytoma, Benign Fibrous Neoplasms
C0206664 BXGD004226 Teratocarcinoma Neoplasms
C0206681 BXGD004236 Adenocarcinoma, Clear Cell Neoplasms
C0206684 BXGD004239 Sebaceous Adenocarcinoma Neoplasms
C0206686 BXGD004241 Adrenocortical carcinoma Neoplasms; Endocrine System Diseases
C0206698 BXGD004248 Cholangiocarcinoma Neoplasms
C0206708 BXGD004256 Cervical Intraepithelial Neoplasia Neoplasms
C0206762 BXGD004290 Limb Deformities, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0220597 BXGD004292 Adult Hodgkin Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0220620 BXGD004299 Gastrointestinal Carcinoid Tumor Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0220644 BXGD004306 Childhood Hodgkin Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0220650 BXGD004310 Metastatic malignant neoplasm to brain Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases
C0220656 BXGD004312 Malignant ascites Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
C0220658 BXGD004313 Pfeiffer Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0220668 BXGD004317 Congenital contractural arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0220701 BXGD004325 RETINITIS PIGMENTOSA 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0220724 BXGD004332 CONSTRICTING BANDS, CONGENITAL Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0220810 BXGD004346 Congenital defects
C0221210 BXGD004406 Congenital malrotation of intestine Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0221352 BXGD004444 Syndactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0221353 BXGD004445 Horseshoe Kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
C0221369 BXGD004453 Acquired Camptodactyly
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0235653 BXGD004762 Malignant neoplasm of female breast Neoplasms; Skin and Connective Tissue Diseases
C0235942 BXGD004788 Abnormality of the skull Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0235974 BXGD004796 Pancreatic carcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0238033 BXGD004861 Carcinoma of Male Breast Neoplasms; Skin and Connective Tissue Diseases
C0238196 BXGD004891 Small intestine carcinoma Digestive System Diseases; Neoplasms
C0238506 BXGD004941 Congenital posterior urethral valves Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0239174 BXGD004969 Late tooth eruption
C0239234 BXGD004974 Low set ears
C0239337 BXGD004978 Deformity of limb
C0239676 BXGD004989 High forehead
C0239849 BXGD005003 Harlequin Fetus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0239946 BXGD005010 Fibrosis, Liver Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0240063 BXGD005015 Coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0240310 BXGD005030 Hypoplasia of the maxilla
C0240538 BXGD005041 Convex nasal ridge
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0240912 BXGD005062 Vertical Talus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0241074 BXGD005078 Hyperextensible skin
C0241397 BXGD005095 Triphalangeal thumb Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0242383 BXGD005160 Age related macular degeneration Eye Diseases
C0242787 BXGD005195 Malignant neoplasm of male breast Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases
C0243038 BXGD005211 Carcinoma, Lewis Lung Neoplasms
C0262361 BXGD005229 Growth abnormality
C0262587 BXGD005259 Parathyroid Adenoma Neoplasms; Endocrine System Diseases
C0263417 BXGD005301 Cutis verticis gyrata
C0263523 BXGD005320 Micronychia (disorder) Skin and Connective Tissue Diseases
C0263641 BXGD005337 Epithelial hyperplasia of skin Pathological Conditions, Signs and Symptoms
C0263661 BXGD005338 Disorder of skeletal system Musculoskeletal Diseases
C0264303 BXGD005379 Laryngomalacia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0264306 BXGD005380 Laryngeal Obstruction Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0264353 BXGD005382 Bronchomalacia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract 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
C0265326 BXGD005517 Bannayan-Riley-Ruvalcaba Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0265529 BXGD005542 Plagiocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265534 BXGD005543 Scaphycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265535 BXGD005544 Trigonocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265554 BXGD005548 Ectrodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265610 BXGD005555 Clinodactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265660 BXGD005561 Syndactyly of the toes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265857 BXGD005582 Uhl anomaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0265886 BXGD005585 Overriding aorta Respiratory Tract Diseases; Cardiovascular Diseases
C0266061 BXGD005618 Open Bite Stomatognathic Diseases
C0266174 BXGD005626 Duodenal atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System 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
C0266231 BXGD005633 Ectopic anus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0266295 BXGD005645 Congenital hypoplasia of kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266362 BXGD005657 Ambiguous Genitalia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0266508 BXGD005684 Rachischisis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266525 BXGD005686 Irido-corneal dysgenesis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266541 BXGD005690 Microphakia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266548 BXGD005692 Axenfeld anomaly (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266551 BXGD005693 Congenital coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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
C0269102 BXGD006053 Endometrioma Female Urogenital Diseases and Pregnancy Complications
C0271441 BXGD006203 Chronic otitis media Otorhinolaryngologic Diseases
C0277828 BXGD006480 Late fontanel closure
C0278488 BXGD006515 Carcinoma breast stage IV
C0278660 BXGD006555 Adult Synovial Sarcoma Neoplasms
C0278678 BXGD006556 Metastatic Renal Cell Cancer
C0278701 BXGD006566 Gastric Adenocarcinoma Digestive System Diseases; Neoplasms
C0278801 BXGD006591 Endometrial neoplasm malignant metastatic Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0278802 BXGD006592 Recurrent Endometrial Cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0278996 BXGD006621 Malignant Head and Neck Neoplasm Neoplasms
C0279563 BXGD006637 Lobular carcinoma in situ of breast Neoplasms; Skin and Connective Tissue Diseases
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
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
C0279763 BXGD006695 endometrial adenoacanthoma
C0279982 BXGD006702 Childhood Synovial Sarcoma Neoplasms
C0280100 BXGD006713 Solid Neoplasm Neoplasms
C0280324 BXGD006740 Laryngeal Squamous Cell Carcinoma Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0280483 BXGD006750 Adult Anaplastic Astrocytoma Neoplasms
C0280630 BXGD006751 Uterine Carcinosarcoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
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
C0332877 BXGD006903 Congenital premature fusion
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0333113 BXGD006923 Sacculation Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0334287 BXGD007022 Fibrolamellar Hepatocellular Carcinoma Digestive System Diseases; Neoplasms
C0334579 BXGD007120 Anaplastic astrocytoma Neoplasms
C0338078 BXGD007166 Non-Functioning Pituitary Gland Neoplasm Neoplasms; Nervous System Diseases; Endocrine System Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0339535 BXGD007263 Night blindness, congenital stationary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0341787 BXGD007422 Bifid scrotum
C0343641 BXGD007636 Human papilloma virus infection Infections
C0344505 BXGD007681 Alacrima Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0344530 BXGD007688 Congenital keratoglobus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0345354 BXGD007728 Radial polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0345905 BXGD007746 Intrahepatic Cholangiocarcinoma Neoplasms
C0346053 BXGD007770 Atypical fibroxanthoma of skin Neoplasms
C0346153 BXGD007781 Breast Cancer, Familial Neoplasms; Skin and Connective Tissue Diseases
C0346163 BXGD007785 Endometrioid carcinoma ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0346191 BXGD007797 Carcinoma in situ of endometrium Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0346619 BXGD007829 Malignant neoplasm of cardioesophageal junction of stomach Digestive System Diseases; Neoplasms
C0346629 BXGD007831 Malignant neoplasm of large intestine Digestive System Diseases; Neoplasms
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0346990 BXGD007842 Carcinomatosis of peritoneal cavity Digestive System Diseases; Neoplasms
C0349204 BXGD007892 Nonorganic psychosis Mental Disorders
C0349588 BXGD007933 Short stature
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0376480 BXGD007998 Gingival Overgrowth Stomatognathic Diseases
C0376634 BXGD008006 Craniofacial Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0391826 BXGD008013 Lhermitte-Duclos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0392163 BXGD008030 Corneal erosion Infections; Eye Diseases
C0395837 BXGD008169 Stenosis of external auditory canal
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0403592 BXGD008297 Chronic rejection of renal transplant Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0406709 BXGD008365 Hay-Wells syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0409477 BXGD008386 Ankylosis of the elbow joint Musculoskeletal Diseases
C0410529 BXGD008431 Hypochondroplasia (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0423109 BXGD008470 Upward slant of palpebral fissure
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
C0424503 BXGD008532 Dysmorphic facies
C0424690 BXGD008539 Asymmetrical skull
C0424711 BXGD008541 Orbital separation diminished
C0426422 BXGD008562 Narrow nose
C0426790 BXGD008577 Narrow thorax
C0426799 BXGD008578 Congenital hypoplasia of clavicle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0426807 BXGD008581 Short clavicle
C0426891 BXGD008595 Broad thumbs
C0431371 BXGD008676 Absence of septum pellucidum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431447 BXGD008690 Synophrys Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0432028 BXGD008714 Split foot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432055 BXGD008716 Simple syndactyly of fingers - first web Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0432072 BXGD008718 Dysmorphic features
C0432123 BXGD008724 Sagittal craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432124 BXGD008725 Unicoronal craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432238 BXGD008749 Bent bone dysplasia
C0432283 BXGD008764 Osteoglophonic dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0456132 BXGD008869 Large fontanelle
C0476089 BXGD008977 Endometrial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0494165 BXGD009022 Secondary malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0496905 BXGD009048 Neoplasm of uncertain or unknown behavior of stomach Digestive System Diseases; Neoplasms
C0497552 BXGD009067 Congenital neurologic anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0521158 BXGD009130 Recurrent tumor
C0521525 BXGD009139 Short neck
C0524730 BXGD009243 Odontome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0544755 BXGD009310 Genu varum Musculoskeletal Diseases
C0544886 BXGD009319 Somatic mutation
C0545074 BXGD009324 Myxoid/Round Cell Liposarcoma Neoplasms
C0546297 BXGD009333 Hallux Varus Musculoskeletal Diseases
C0549397 BXGD009375 Deviated nasal septum
C0549473 BXGD009384 Thyroid carcinoma Neoplasms; Endocrine System Diseases
C0553723 BXGD009416 Squamous cell carcinoma of skin Neoplasms; Skin and Connective Tissue Diseases
C0557874 BXGD009444 Global developmental delay
C0566899 BXGD009494 Small labia majora
C0574785 BXGD009506 Lower Urinary Tract Symptoms Pathological Conditions, Signs and Symptoms
C0575802 BXGD009521 Small hand
C0576226 BXGD009527 Short foot
C0581381 BXGD009567 Recurrent upper respiratory tract infection Infections; Respiratory Tract Diseases
C0584837 BXGD009578 Choanal stenosis Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0677886 BXGD009734 Epithelial ovarian cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
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
C0685678 BXGD009811 Incomplete ossification of pubis
C0685707 BXGD009814 Muscular ventricular septum defect Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0685938 BXGD009829 Malignant neoplasm of gastrointestinal tract Digestive System Diseases; Neoplasms
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0687154 BXGD009843 Acrocephalopolysyndactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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
C0700501 BXGD009892 Congenital nystagmus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0702166 BXGD009912 Acne Skin and Connective Tissue Diseases
C0740852 BXGD010011 Upper airway obstruction
C0741682 BXGD010039 Premenopausal breast cancer
C0741916 BXGD010044 Cardiac defects
C0747845 BXGD010184 early pregnancy
C0750929 BXGD010256 Arnold-Chiari Malformation, Type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0750952 BXGD010263 Biliary Tract Cancer Digestive System Diseases; Neoplasms
C0795998 BXGD010773 JACKSON-WEISS SYNDROME Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0812413 BXGD010847 Malignant Pleural Mesothelioma Neoplasms; Respiratory Tract Diseases
C0814161 BXGD010860 impaired motor coordination
C0846967 BXGD010865 Acanthoma Neoplasms
C0848558 BXGD010882 Hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0853087 BXGD010964 Nail abnormality Pathological Conditions, Signs and Symptoms
C0853879 BXGD010982 Invasive carcinoma of breast Neoplasms; Skin and Connective Tissue Diseases
C0857002 BXGD011129 Scirrhous gastric carcinoma Digestive System Diseases; Neoplasms
C0857379 BXGD011148 Abnormality of the pinna
C0878659 BXGD011380 Disproportionate short stature Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0917816 BXGD011419 Mental deficiency Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0919267 BXGD011426 ovarian neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0936223 BXGD011477 Metastatic Prostate Carcinoma Neoplasms; Male Urogenital Diseases
C0948187 BXGD011513 Tracheomalacia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
C0949541 BXGD011578 Hurthle Cell Tumor Neoplasms
C1096616 BXGD011635 Contralateral breast cancer
C1112160 BXGD011649 Gastrooesophageal cancer
C1134719 BXGD011688 Invasive Ductal Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C1140680 BXGD011718 Malignant neoplasm of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1153706 BXGD011769 Endometrial adenocarcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C1168401 BXGD011792 Squamous cell carcinoma of the head and neck Neoplasms
C1257931 BXGD011815 Mammary Neoplasms, Human Neoplasms; Skin and Connective Tissue Diseases
C1265996 BXGD011927 Large cell neuroendocrine carcinoma Neoplasms
C1269683 BXGD012001 Major Depressive Disorder Mental Disorders
C1269955 BXGD012005 Tumor Cell Invasion
C1275122 BXGD012060 Familial multiple trichoepitheliomata Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
C1275277 BXGD012073 Soft tissue chondroma Neoplasms
C1281931 BXGD012136 Obstruction of nasolacrimal duct
C1282496 BXGD012147 Metastasis from malignant tumor of prostate
C1301937 BXGD012300 Talipes 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
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
C1306837 BXGD012377 Papillary Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1319315 BXGD012415 Adenocarcinoma of large intestine Digestive System Diseases; Neoplasms
C1319466 BXGD012417 Barber Say syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
C1321884 BXGD012448 Atresia of vagina
C1328504 BXGD012469 Hormone refractory prostate cancer Neoplasms; Male Urogenital Diseases
C1332977 BXGD012569 Childhood Leukemia Neoplasms
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1334953 BXGD012746 Neuroblastic tumors Neoplasms
C1335177 BXGD012771 Ovarian Serous Adenocarcinoma Neoplasms
C1335302 BXGD012775 Pancreatic Ductal Adenocarcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C1336076 BXGD012828 Sporadic Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C1368683 BXGD012900 Epithelioma Neoplasms
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
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1510455 BXGD013167 Acrocephalosyndactylia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1512127 BXGD013185 HER2 gene amplification
C1513734 BXGD013199 Solid/Multicystic Ameloblastoma Neoplasms
C1516419 BXGD013212 Cervical Mesonephric Adenocarcinoma Neoplasms
C1516490 BXGD013214 Cholangiolocellular Carcinoma Neoplasms
C1516974 BXGD013220 Estrogen Receptor Status - Clinical Trial Eligibility Criteria
C1517658 BXGD013221 Cervical Keratinizing Squamous Cell Carcinoma
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1536148 BXGD013338 Chocolate cyst of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1561989 BXGD013368 Limbal stem cell deficiency Eye Diseases
C1562113 BXGD013372 Fleck corneal dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
C1623038 BXGD013475 Cirrhosis Pathological Conditions, Signs and Symptoms
C1691215 BXGD013491 Penile hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1704272 BXGD013537 Benign Prostatic Hyperplasia Male Urogenital Diseases
C1708349 BXGD013597 Hereditary Diffuse Gastric Cancer Digestive System Diseases; Neoplasms
C1737329 BXGD013728 Dysmorphism Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1739135 BXGD013733 Progression of prostate cancer
C1800706 BXGD013755 Idiopathic Pulmonary Fibrosis Respiratory Tract Diseases
C1832661 BXGD013866 ANOPHTHALMIA AND PULMONARY HYPOPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
C1833340 BXGD013918 Synostotic Posterior Plagiocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1833762 BXGD013945 Decreased calvarial ossification
C1836193 BXGD014093 Synostosis of carpal bones
C1836542 BXGD014129 Depressed nasal bridge
C1836735 BXGD014155 hypopigmented skin patch Skin and Connective Tissue Diseases
C1837218 BXGD014207 Cleft palate, isolated Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1837260 BXGD014214 Prominent forehead
C1837315 BXGD014218 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
C1837402 BXGD014228 Flat occiput
C1837532 BXGD014246 Fused labia minora
C1837732 BXGD014261 Thickened helices
C1838705 BXGD014341 Anteriorly placed anus
C1839326 BXGD014367 Abnormal form of the vertebral bodies
C1839758 BXGD014402 Narrow forehead
C1839798 BXGD014410 Long nose
C1840077 BXGD014434 Anteverted nostril
C1842083 BXGD014494 Abnormality of the ribs
C1842231 BXGD014506 Broad metatarsal
C1842366 BXGD014512 Low anterior hairline
C1843108 BXGD014556 Short palm
C1845447 BXGD014747 Cupped ears (finding)
C1846460 BXGD014820 Abnormality of the outer ear
C1846474 BXGD014821 Small thenar eminence
C1847835 BXGD014892 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) Skin and Connective Tissue Diseases
C1848103 BXGD014905 Narrow pelvis bone
C1848587 BXGD014945 Isolated hypoplasia of the right ventricle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1848673 BXGD014963 Hypoplastic feet
C1848977 BXGD014992 Short upper lip
C1849020 BXGD014996 Short metatarsal
C1849089 BXGD015004 Broad forehead
C1849227 BXGD015025 Cleft of chin
C1849265 BXGD015028 Overgrowth
C1849538 BXGD015064 Delayed eruption of primary teeth
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1851792 BXGD015234 Aplasia/Hypoplasia of the earlobes
C1851797 BXGD015235 Palmoplantar cutis gyrata
C1852406 BXGD015277 Cutis Gyrata Syndrome of Beare And Stevenson Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C1852407 BXGD015278 Prominent scrotal raphe
C1852411 BXGD015279 Preauricular skin furrow
C1852464 BXGD015282 Abnormality of the cervical spine
C1852504 BXGD015287 Misalignment of teeth
C1853241 BXGD015321 Flat face
C1853242 BXGD015322 Midface retrusion
C1854113 BXGD015382 Prominent nasal bridge
C1854114 BXGD015383 Short nose
C1854301 BXGD015391 Motor delay Mental Disorders
C1855340 BXGD015490 Bowing of the long bones
C1855852 BXGD015554 Abnormally large globe
C1856136 BXGD015580 Conical incisor
C1856266 BXGD015589 Coronal craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1856409 BXGD015604 Dilation of lateral ventricles
C1856714 BXGD015634 Palmoplantar cutis laxa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C1856912 BXGD015656 Shortening of all middle phalanges of the fingers
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
C1857353 BXGD015697 Posterior fossa cyst
C1857456 BXGD015704 Morphological abnormality of the middle ear
C1857484 BXGD015708 Brachyturricephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1857485 BXGD015709 Flat forehead
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1857941 BXGD015756 Brooke-Spiegler syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
C1858036 BXGD015763 Periorbital fullness
C1858085 BXGD015770 Malar flattening
C1858569 BXGD015808 Absence of Stensen duct
C1859447 BXGD015892 Hypoplastic ischia
C1859461 BXGD015895 Femoral bowing Musculoskeletal Diseases
C1859717 BXGD015924 Depressed nasal tip
C1860042 BXGD015950 Antley-Bixler Syndrome with Disordered Steroidogenesis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C1860050 BXGD015952 Cloverleaf skull
C1860245 BXGD015972 Cranial asymmetry
C1860614 BXGD015992 ULNAR HYPOPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1860819 BXGD016002 Metopic synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1861403 BXGD016045 Variable expressivity
C1861869 BXGD016088 Underdeveloped supraorbital ridges
C1862095 BXGD016100 Bilateral single transverse palmar creases
C1863200 BXGD016155 Lacrimal gland hypoplasia
C1863363 BXGD016169 Cartilaginous trachea
C1863382 BXGD016170 Absent first metatarsal
C1863389 BXGD016171 Apert-Crouzon Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1863392 BXGD016172 Abnormal morphology of the limbic system
C1863395 BXGD016173 Acrobrachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1863402 BXGD016174 Broad distal phalanx of the thumb
C1863403 BXGD016175 Broad distal hallux
C1863406 BXGD016176 Anomalous tracheal cartilage
C1864436 BXGD016228 Muenke Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1865014 BXGD016282 Long philtrum
C1865070 BXGD016293 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
C1865186 BXGD016296 Bell-shaped thorax
C1865244 BXGD016301 Shallow orbits Eye Diseases
C1865304 BXGD016309 Overfolding of the superior helices
C1865847 BXGD016344 Ulnar bowing
C1865992 BXGD016359 Short hallux
C1866134 BXGD016378 Wide anterior fontanel
C1866190 BXGD016384 Atresia of the external auditory canal
C1867060 BXGD016437 Lacrimal Puncta, Absence of Eye Diseases
C1867103 BXGD016438 Limited elbow extension
C1867131 BXGD016440 Broad hallux
C1867563 BXGD016464 CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
C1867564 BXGD016465 SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
C1868598 BXGD016514 PARIETAL FORAMINA Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1879344 BXGD016574 Biliary papillomatosis Digestive System Diseases; Neoplasms
C1959582 BXGD016636 PTEN Hamartoma Tumor Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C1968574 BXGD016716 Hypoplastic lacrimal duct
C2112942 BXGD016923 Preaxial foot polydactyly
C2126063 BXGD016928 Exophthalmos, bilateral
C2145472 BXGD016931 Urothelial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2350233 BXGD017072 Antley-Bixler Syndrome Phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C2673410 BXGD017200 Small midface
C2674608 BXGD017250 Feeding difficulties in infancy
C2675481 BXGD017292 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
C2676443 BXGD017333 Proximal radio-ulnar synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2677123 BXGD017364 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
C2699510 BXGD017460 Split-Hand/Foot Malformation Pathological Conditions, Signs and Symptoms
C2826323 BXGD017790 Refractory Cytopenia of Childhood
C2919142 BXGD017867 Short Stature, CTCAE
C2930865 BXGD017908 Ramer Ladda syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2931019 BXGD017938 Split hand foot deformity 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2931150 BXGD017966 Synostotic Anterior Plagiocephaly 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
C2931888 BXGD018089 Pfeiffer type acrocephalosyndactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2936786 BXGD018137 Aqueductal Stenosis Nervous System Diseases
C2936791 BXGD018138 Antley-Bixler Syndrome, Autosomal Dominant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C2937421 BXGD018162 Prostatic Hyperplasia Male Urogenital Diseases
C2938924 BXGD018167 Oestrogen receptor positive breast cancer
C2981150 BXGD018211 Uranostaphyloschisis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C3150931 BXGD018359 Steep acetabular roof
C3179508 BXGD018554 Aplasia/Hypoplasia of the thumb Musculoskeletal Diseases
C3267076 BXGD018614 Familial scaphocephaly syndrome Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3278923 BXGD018748 Dilated ventricles (finding)
C3280768 BXGD018860 Abnormality of the posterior cranial fossa
C3281247 BXGD018895 BENT BONE DYSPLASIA SYNDROME
C3495676 BXGD019000 Anorectal Malformations Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C3539878 BXGD019087 Triple Negative Breast Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C3552414 BXGD019153 Deviation of the thumb Musculoskeletal Diseases
C3554460 BXGD019215 COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
C3642345 BXGD019244 Luminal A Breast Carcinoma
C3642346 BXGD019245 Luminal B Breast Carcinoma
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
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3805278 BXGD019474 Extrahepatic Cholangiocarcinoma Neoplasms
C3805574 BXGD019481 Increased fracture rate
C3811653 BXGD019662 Experimental Organism Basal Cell Carcinoma Neoplasms
C3850155 BXGD019813 Congenital Microtia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
C3854181 BXGD019825 Nevus sebaceous Neoplasms
C3872820 BXGD019850 Congenital pulmonary acinar dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C3875321 BXGD019874 Inflammatory dermatosis Skin and Connective Tissue Diseases
C3887461 BXGD019876 Head and Neck Carcinoma Neoplasms
C4011556 BXGD020113 Abnormal eyebrow morphology
C4016282 BXGD020300 BREAST CANCER, SOMATIC
C4016344 BXGD020313 PFEIFFER SYNDROME VARIANT
C4016345 BXGD020314 PFEIFFER SYNDROME, TYPE III
C4016346 BXGD020315 CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
C4020847 BXGD020486 Abnormality of pelvic girdle bone morphology
C4020908 BXGD020494 Hypointensity of cerebral white matter on MRI Pathological Conditions, Signs and Symptoms
C4021161 BXGD020568 Multiple suture craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4021164 BXGD020569 Bicoronal synostosis
C4021242 BXGD020592 Hypoplasia of the zygomatic bone
C4021254 BXGD020599 Cutaneous finger syndactyly
C4021343 BXGD020613 Broad hallux phalanx
C4021360 BXGD020614 Partial duplication of the distal phalanx of the 3rd finger
C4021365 BXGD020615 Partial duplication of the distal phalanx of the 2nd finger
C4021377 BXGD020618 Prominent crus of helix
C4021390 BXGD020622 Symphalangism affecting the phalanges of the hand
C4021395 BXGD020625 Abnormality of the antihelix
C4021418 BXGD020629 Absent proximal phalanx of thumb
C4021564 BXGD020674 Hypoplasia of the lacrimal punctum
C4021627 BXGD020704 Bilateral triphalangeal thumbs Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4021723 BXGD020733 Short middle phalanx of toe
C4021815 BXGD020801 Abnormal palate morphology
C4021821 BXGD020806 Abnormality of the urinary system Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C4021977 BXGD020853 Visceral angiomatosis
C4023383 BXGD021169 Narrow internal auditory canal
C4023386 BXGD021171 Morphological abnormality of the semicircular canal
C4023454 BXGD021192 Metopic depression
C4023458 BXGD021194 Abnormal shape of the frontal region
C4023628 BXGD021231 Mild fetal ventriculomegaly
C4023749 BXGD021257 Abnormality of the zygomatic bone
C4024202 BXGD021303 Reduced number of teeth
C4024215 BXGD021305 Aplasia of the parotid gland
C4024345 BXGD021321 Radial deviation of the 3rd finger
C4024730 BXGD021391 Calcaneonavicular fusion Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4024822 BXGD021430 Lacrimal gland aplasia
C4025250 BXGD021605 Abnormal sacrum morphology
C4025301 BXGD021633 Cervical C5/C6 vertebrae fusion
C4025664 BXGD021718 Abnormality of fibula morphology
C4025750 BXGD021774 Abnormality of the nasopharynx
C4025751 BXGD021775 Abnormality of the pancreas
C4025835 BXGD021819 Abnormal nasolacrimal system morphology
C4025846 BXGD021826 Abnormality of vision
C4025860 BXGD021833 Hearing abnormality
C4045991 BXGD021888 Perihilar Cholangiocarcinoma Neoplasms
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
C4073134 BXGD022044 Abnormality of the periosteum
C4082168 BXGD022083 Partial duplication of thumb phalanx
C4082954 BXGD022098 Hypoplasia of right ventricle
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4284013 BXGD022428 Primary cholangiocarcinoma of intrahepatic biliary tract Neoplasms
C4321245 BXGD022744 Cleft lip or lips
C4520821 BXGD023039 Stage 0 Breast Cancer AJCC v6 and v7 Neoplasms; Skin and Connective Tissue Diseases
C4551485 BXGD023312 Clinodactyly
C4551488 BXGD023314 Bifid uvula
C4551548 BXGD023342 Grade III Childhood Astrocytoma Neoplasms
C4551570 BXGD023357 2-3 toe syndactyly
C4551596 BXGD023368 Abnormal renal morphology
C4551675 BXGD023384 Keratoderma, Palmoplantar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C4551902 BXGD023436 Craniosynostosis, Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4552766 BXGD023523 Miscarriage Female Urogenital Diseases and Pregnancy Complications
C4703633 BXGD023671 Increased level of L-fucose in urine
C4704874 BXGD023682 Mammary Carcinoma, Human Neoplasms; Skin and Connective Tissue Diseases
C4721610 BXGD023760 Carcinoma, Ovarian Epithelial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C4721698 BXGD023763 Metastatic Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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
C4725671 BXGD023833 High-Risk Neuroblastoma Neoplasms
C4733092 BXGD023907 estrogen receptor-negative breast cancer
C4733094 BXGD023909 progesterone receptor-positive breast cancer
C4733095 BXGD023910 HER2-negative breast cancer
C4745063 BXGD023956 Biliary Tract Carcinoma
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000016 Butein 272.25
BXGC0002588 Magnesium 24.31
BXGC0002605 Adenosine 267.24
BXGC0008707 Isoliquiritigenin 256.25
BXGC0008710 2'-Methylisoliquiritigenin 270.28
BXGC0012352 Chelerythrine 348.12
BXGC0017985 sappanone B 302.08
BXGC0019380 4-O-methylsappanol 318.11
BXGC0021250 sappanol 304.09
BXGC0023321 Quercetin Dihydrate 302.04
BXGC0024677 Bonducellin 282.09
BXGC0029461 4-O-methylsappanol 302.12
BXGC0029624 Protosappanin A 272.07
BXGC0038853 3'-Deoxysappanone A 268.07
BXGC0040383 sappanchalcone 286.08
BXGC0044285 Hematoxylin 302.08
BXGC0044857 Sp-600125 220.06
BXGC0045254 Sb-202190 331.11
BXGC0047692 Gefitinib 446.15
BXGC0049929 Isobavachalcone 324.14
BXGC0053332 Sappanone A 284.07
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