Showing entry for Protein patched homolog 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT024910
Protein NameProtein patched homolog 1
Uniport IdQ13635
GenePTCH1
Gene Id5727
DomainPatched
Pfam PF02460  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
3. Environmental Information Processing 3.2 Signal transduction hsa04024 cAMP signaling pathway
3. Environmental Information Processing 3.2 Signal transduction hsa04340 Hedgehog signaling pathway
5. Organismal Systems 5.8 Development hsa04360 Axon guidance
6. Human Diseases 6.1 Cancers: Overview hsa05200 Pathways in cancer
6. Human Diseases 6.1 Cancers: Overview hsa05205 Proteoglycans in cancer
6. Human Diseases 6.2 Cancers: Specific types hsa05217 Basal cell carcinoma
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0009887 animal organ morphogenesis
Biological Process GO:0007420 brain development
Biological Process GO:0001658 branching involved in ureteric bud morphogenesis
Biological Process GO:0061005 cell differentiation involved in kidney development
Biological Process GO:0001709 cell fate determination
Biological Process GO:0072203 cell proliferation involved in metanephros development
Biological Process GO:0071397 cellular response to cholesterol
Biological Process GO:0071679 commissural neuron axon guidance
Biological Process GO:0009953 dorsal/ventral pattern formation
Biological Process GO:0030326 embryonic limb morphogenesis
Biological Process GO:0048568 embryonic organ development
Biological Process GO:0009957 epidermal cell fate specification
Biological Process GO:0042593 glucose homeostasis
Biological Process GO:0003007 heart morphogenesis
Biological Process GO:0035137 hindlimb morphogenesis
Biological Process GO:0001701 in utero embryonic development
Biological Process GO:0043616 keratinocyte proliferation
Biological Process GO:0035108 limb morphogenesis
Biological Process GO:0097421 liver regeneration
Biological Process GO:0060603 mammary gland duct morphogenesis
Biological Process GO:0060644 mammary gland epithelial cell differentiation
Biological Process GO:0072205 metanephric collecting duct development
Biological Process GO:0051782 negative regulation of cell division
Biological Process GO:0043433 negative regulation of DNA-binding transcription factor activity
Biological Process GO:0050680 negative regulation of epithelial cell proliferation
Biological Process GO:0040015 negative regulation of multicellular organism growth
Biological Process GO:0045668 negative regulation of osteoblast differentiation
Biological Process GO:0045879 negative regulation of smoothened signaling pathway
Biological Process GO:0000122 negative regulation of transcription by RNA polymerase II
Biological Process GO:0021997 neural plate axis specification
Biological Process GO:0001843 neural tube closure
Biological Process GO:0021532 neural tube patterning
Biological Process GO:0060037 pharyngeal system development
Biological Process GO:0010875 positive regulation of cholesterol efflux
Biological Process GO:0045606 positive regulation of epidermal cell differentiation
Biological Process GO:0045893 positive regulation of transcription, DNA-templated
Biological Process GO:0030850 prostate gland development
Biological Process GO:0072659 protein localization to plasma membrane
Biological Process GO:0016485 protein processing
Biological Process GO:0007346 regulation of mitotic cell cycle
Biological Process GO:0032880 regulation of protein localization
Biological Process GO:0008589 regulation of smoothened signaling pathway
Biological Process GO:0010157 response to chlorate
Biological Process GO:0042493 response to drug
Biological Process GO:0032355 response to estradiol
Biological Process GO:0009612 response to mechanical stimulus
Biological Process GO:0032526 response to retinoic acid
Biological Process GO:0007224 smoothened signaling pathway
Biological Process GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning
Biological Process GO:0048745 smooth muscle tissue development
Biological Process GO:0061053 somite development
Biological Process GO:0021522 spinal cord motor neuron differentiation
molecular function GO:0015485 cholesterol binding
molecular function GO:0030332 cyclin binding
molecular function GO:0097108 hedgehog family protein binding
molecular function GO:0008158 hedgehog receptor activity
molecular function GO:0008201 heparin binding
molecular function GO:0005113 patched binding
molecular function GO:0044877 protein-containing complex binding
molecular function GO:0005119 smoothened binding
cellular component GO:0045177 apical part of cell
cellular component GO:0044295 axonal growth cone
cellular component GO:0005901 caveola
cellular component GO:0060170 ciliary membrane
cellular component GO:0044294 dendritic growth cone
cellular component GO:0030666 endocytic vesicle membrane
cellular component GO:0016021 integral component of membrane
cellular component GO:0043231 intracellular membrane-bounded organelle
cellular component GO:0030496 midbody
cellular component GO:0005634 nucleus
cellular component GO:0048471 perinuclear region of cytoplasm
cellular component GO:0005886 plasma membrane
cellular component GO:0014069 postsynaptic density
Reactome
Pathway Id Pathway Name
R-HSA-162582 Signal Transduction
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-500792 GPCR ligand binding
R-HSA-5358351 Signaling by Hedgehog
R-HSA-5358351 Signaling by Hedgehog
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632681 Ligand-receptor interactions
R-HSA-5632681 Ligand-receptor interactions
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5635838 Activation of SMO
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001418 BXGD000050 Adenocarcinoma Neoplasms
C0001430 BXGD000054 Adenoma Neoplasms
C0001973 BXGD000095 Alcoholic Intoxication, Chronic Chemically-Induced Disorders; Mental Disorders
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0002448 BXGD000115 Ameloblastoma Neoplasms
C0002793 BXGD000130 Anaplasia Pathological Conditions, Signs and Symptoms; Neoplasms
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
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
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0004096 BXGD000252 Asthma Respiratory Tract Diseases; Immune System Diseases
C0004135 BXGD000257 Ataxia Telangiectasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
C0004364 BXGD000270 Autoimmune Diseases Immune System Diseases
C0004779 BXGD000291 Basal Cell Nevus Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
C0005612 BXGD000317 Birth Weight Pathological Conditions, Signs and Symptoms
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
C0005890 BXGD000345 Body Height
C0006118 BXGD000372 Brain Neoplasms Neoplasms; Nervous System Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007103 BXGD000426 Malignant neoplasm of endometrium Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0007114 BXGD000431 Malignant neoplasm of skin Neoplasms; Skin and Connective Tissue Diseases
C0007115 BXGD000432 Malignant neoplasm of thyroid Neoplasms; Endocrine System Diseases
C0007117 BXGD000433 Basal cell carcinoma Neoplasms
C0007124 BXGD000437 Noninfiltrating Intraductal Carcinoma Neoplasms
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
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
C0008476 BXGD000543 Chondromatosis, Synovial Musculoskeletal Diseases
C0008479 BXGD000544 Chondrosarcoma Neoplasms
C0008525 BXGD000554 Choroideremia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0008626 BXGD000559 Congenital chromosomal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0008677 BXGD000560 Bronchitis, Chronic Infections; Respiratory Tract Diseases
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
C0010276 BXGD000659 Craniopharyngioma Neoplasms
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010606 BXGD000677 Adenoid Cystic Carcinoma Neoplasms
C0010709 BXGD000689 Cyst Pathological Conditions, Signs and Symptoms; Neoplasms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011269 BXGD000710 Dementia, Vascular Nervous System Diseases; Mental Disorders; Cardiovascular Diseases
C0011334 BXGD000716 Dental caries Stomatognathic Diseases
C0011428 BXGD000722 Dentigerous Cyst Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
C0011649 BXGD000746 Dermoid Cyst Neoplasms
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013080 BXGD000797 Down Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0013132 BXGD000799 Drooling Stomatognathic Diseases
C0013264 BXGD000808 Muscular Dystrophy, Duchenne Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014511 BXGD000920 Epithelial cyst Neoplasms
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014859 BXGD000961 Esophageal Neoplasms Digestive System Diseases; Neoplasms
C0015625 BXGD001006 Fanconi Anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0016045 BXGD001037 fibroma Neoplasms
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0016529 BXGD001068 Forced expiratory volume function
C0016842 BXGD001083 Congenital pectus excavatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017097 BXGD001092 Gardner Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
C0017601 BXGD001125 Glaucoma Eye Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017638 BXGD001132 Glioma Neoplasms
C0017639 BXGD001133 Gliosis Pathological Conditions, Signs and Symptoms
C0018021 BXGD001162 Goiter Endocrine System Diseases
C0018081 BXGD001171 Gonorrhea Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
C0018213 BXGD001187 Graves Disease Eye Diseases; Immune System Diseases; Endocrine System Diseases
C0018672 BXGD001212 Head Banging Mental Disorders
C0018916 BXGD001245 Hemangioma Neoplasms
C0019569 BXGD001337 Hirschsprung Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0019693 BXGD001346 HIV Infections Infections; Immune System Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020295 BXGD001372 Hydronephrosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020456 BXGD001392 Hyperglycemia Nutritional and Metabolic Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020676 BXGD001462 Hypothyroidism Endocrine System 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
C0021704 BXGD001510 Intelligence Behavior and Behavior Mechanisms
C0022361 BXGD001542 Jaw Cysts Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
C0022665 BXGD001573 Kidney Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023221 BXGD001619 Leg Length Inequality Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0023267 BXGD001626 Fibroid Tumor Neoplasms
C0023418 BXGD001642 leukemia Neoplasms
C0023434 BXGD001643 Chronic Lymphocytic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023473 BXGD001661 Myeloid Leukemia, Chronic Neoplasms; Hemic and Lymphatic Diseases
C0023508 BXGD001675 White Blood Cell Count procedure
C0023652 BXGD001691 Lichen Sclerosus et Atrophicus Skin and Connective Tissue Diseases
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
C0024117 BXGD001734 Chronic Obstructive Airway Disease Respiratory Tract Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0025149 BXGD001826 Medulloblastoma Neoplasms
C0025202 BXGD001832 melanoma Neoplasms
C0025267 BXGD001845 Multiple Endocrine Neoplasia Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
C0025286 BXGD001850 Meningioma Neoplasms; Nervous System Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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
C0026470 BXGD001903 Monoclonal Gammopathy of Undetermined Significance Immune System Diseases; Hemic and Lymphatic 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
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027666 BXGD002018 Neoplasms, Radiation-Induced Neoplasms; Wounds and Injuries
C0027672 BXGD002020 Neoplastic Syndromes, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0027708 BXGD002025 Nephroblastoma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0027794 BXGD002036 Neural Tube Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0027831 BXGD002047 Neurofibromatosis 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0027960 BXGD002062 Nevus Neoplasms
C0027962 BXGD002064 Melanocytic nevus Neoplasms
C0028259 BXGD002073 Nodule
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0028879 BXGD002096 Odontogenic Cysts Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
C0028880 BXGD002097 Odontogenic Tumors Neoplasms
C0029131 BXGD002116 Abnormality of the optic nerve
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029427 BXGD002144 Synovial osteochondromatosis Musculoskeletal Diseases
C0029443 BXGD002152 Osteomyelitis Infections; Musculoskeletal Diseases
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0029925 BXGD002181 Ovarian Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0030297 BXGD002204 Pancreatic Neoplasm Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0030299 BXGD002205 Pancreatic Pseudocyst Digestive System Diseases; Neoplasms
C0030472 BXGD002227 Paraneoplastic Syndromes Neoplasms
C0031900 BXGD002313 Pierre Robin Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0032320 BXGD002350 Pneumoperitoneum Digestive System Diseases
C0032580 BXGD002362 Adenomatous Polyposis Coli Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
C0033036 BXGD002389 Atrial Premature Complexes Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0033578 BXGD002408 Prostatic Neoplasms Neoplasms; Male Urogenital Diseases
C0033626 BXGD002412 Protein Deficiency Nutritional and Metabolic Diseases
C0034069 BXGD002458 Pulmonary Fibrosis Respiratory Tract Diseases
C0034543 BXGD002483 Radicular Cyst Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
C0035112 BXGD002508 Reoviridae Infections Infections
C0035227 BXGD002514 Respiratory Function Tests
C0035300 BXGD002526 Abnormal retinal morphology Eye Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035411 BXGD002547 Rhabdomyoma Neoplasms
C0035412 BXGD002548 Rhabdomyosarcoma Neoplasms
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037277 BXGD002677 Skin Diseases, Genetic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
C0037369 BXGD002691 Smoking Behavior and Behavior Mechanisms
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038356 BXGD002747 Stomach Neoplasms Digestive System Diseases; Neoplasms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0038525 BXGD002768 Subarachnoid Hemorrhage Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0039685 BXGD002825 Tetralogy of Fallot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0039747 BXGD002828 Thecoma Neoplasms
C0040128 BXGD002844 Thyroid Diseases Endocrine System Diseases
C0040136 BXGD002845 Thyroid Neoplasm Neoplasms; Endocrine System Diseases
C0040137 BXGD002846 Thyroid Nodule Neoplasms; Endocrine System Diseases
C0040147 BXGD002847 Thyroiditis Endocrine System Diseases
C0040250 BXGD002853 Tinea Capitis Infections; Skin and Connective Tissue Diseases
C0040953 BXGD002889 Trichotillomania Mental Disorders
C0042133 BXGD002960 Uterine Fibroids Neoplasms
C0042834 BXGD003004 Vital capacity
C0043346 BXGD003043 Xeroderma Pigmentosum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0078911 BXGD003053 AIDS-Associated Nephropathy Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Immune System Diseases
C0079541 BXGD003081 Holoprosencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0080174 BXGD003106 Spina Bifida Occulta Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0080178 BXGD003107 Spina Bifida Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0085207 BXGD003140 Gestational Diabetes Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0085413 BXGD003171 Polycystic Kidney, Autosomal Dominant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0086692 BXGD003306 Benign Neoplasm Neoplasms
C0149521 BXGD003328 Pancreatitis, Chronic Digestive System Diseases
C0149951 BXGD003392 Ovarian Fibromata Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0151468 BXGD003424 Thyroid Gland Follicular Adenoma Neoplasms; Endocrine System Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0151779 BXGD003473 Cutaneous Melanoma Neoplasms; Skin and Connective Tissue Diseases
C0152018 BXGD003518 Esophageal carcinoma Digestive System Diseases; Neoplasms
C0152421 BXGD003586 Macrotia
C0152427 BXGD003590 Polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0152438 BXGD003592 Sprengel deformity Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0153633 BXGD003674 Malignant neoplasm of brain Neoplasms; Nervous System Diseases
C0153676 BXGD003679 Secondary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0154936 BXGD003758 Pupillary abnormality Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0155285 BXGD003782 Orbital cyst Pathological Conditions, Signs and Symptoms; Neoplasms; Eye Diseases
C0158646 BXGD003897 Cleft palate with cleft lip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0175693 BXGD004001 Russell-Silver 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
C0201836 BXGD004052 Alanine aminotransferase measurement
C0205642 BXGD004094 Adenocarcinoma, Oxyphilic Neoplasms
C0205645 BXGD004097 Adenocarcinoma, Tubular Neoplasms
C0205647 BXGD004099 Follicular adenoma Neoplasms
C0205696 BXGD004107 Anaplastic carcinoma Neoplasms
C0205698 BXGD004109 Undifferentiated carcinoma Neoplasms
C0205766 BXGD004118 Myxofibroma Neoplasms
C0205833 BXGD004130 Medullomyoblastoma Neoplasms
C0206624 BXGD004190 Hepatoblastoma Neoplasms
C0206656 BXGD004219 Embryonal Rhabdomyosarcoma Neoplasms
C0206659 BXGD004222 Embryonal Carcinoma Neoplasms
C0206663 BXGD004225 Neuroectodermal Tumor, Primitive Neoplasms
C0206682 BXGD004237 Follicular thyroid carcinoma Neoplasms
C0206684 BXGD004239 Sebaceous Adenocarcinoma Neoplasms
C0206693 BXGD004244 Medullary carcinoma Neoplasms
C0206708 BXGD004256 Cervical Intraepithelial Neoplasia Neoplasms
C0206710 BXGD004258 Basal Cell Neoplasm Neoplasms
C0220611 BXGD004295 Childhood Rhabdomyosarcoma Neoplasms
C0220756 BXGD004338 Niemann-Pick Disease, Type C Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C0220810 BXGD004346 Congenital defects
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
C0231921 BXGD004530 Pulmonary function
C0232466 BXGD004543 Feeding difficulties
C0234119 BXGD004622 Neuromuscular inhibition
C0235974 BXGD004796 Pancreatic carcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0238198 BXGD004893 Gastrointestinal Stromal Tumors Digestive System Diseases; Neoplasms
C0238461 BXGD004936 Anaplastic thyroid carcinoma Neoplasms
C0238462 BXGD004937 Medullary carcinoma of thyroid Neoplasms; Endocrine System Diseases
C0238463 BXGD004938 Papillary thyroid carcinoma Neoplasms; Endocrine System Diseases
C0239174 BXGD004969 Late tooth eruption
C0239234 BXGD004974 Low set ears
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
C0240379 BXGD005033 Open mouth (finding)
C0241240 BXGD005089 Tall stature
C0241908 BXGD005122 Hematuria, Benign Familial Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0242225 BXGD005143 Color blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0242343 BXGD005153 Panhypopituitarism Nervous System Diseases; Endocrine System Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0260037 BXGD005227 Multiple tumors Neoplasms
C0265205 BXGD005462 Robinow Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
C0265220 BXGD005469 Pallister-Hall syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
C0265341 BXGD005524 Rieger syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0265535 BXGD005544 Trigonocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265677 BXGD005564 Congenital hemivertebra Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265695 BXGD005566 Congenital fusion of ribs Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266174 BXGD005626 Duodenal atresia 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
C0266435 BXGD005668 Congenital hypoplasia of penis Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266551 BXGD005693 Congenital coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266623 BXGD005702 Congenital anomaly of neck Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266667 BXGD005707 Cyclocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0270685 BXGD006084 Cerebral calcification Nutritional and Metabolic Diseases; Nervous System Diseases
C0271623 BXGD006222 Hypogonadotropic hypogonadism Endocrine System Diseases
C0271633 BXGD006223 Disorder of endocrine pancreas Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Endocrine System Diseases
C0276680 BXGD006443 Infection by Candida albicans Infections
C0278510 BXGD006526 Childhood Medulloblastoma Neoplasms
C0278652 BXGD006554 Childhood Craniopharyngioma Neoplasms
C0278875 BXGD006606 Adult Craniopharyngioma Neoplasms
C0278876 BXGD006607 Adult Medulloblastoma Neoplasms
C0278877 BXGD006608 Adult Meningioma Neoplasms; Nervous System Diseases
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0279550 BXGD006635 Adult Rhabdomyosarcoma Neoplasms
C0279612 BXGD006650 Childhood Embryonal Rhabdomyosarcoma Neoplasms
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0279671 BXGD006677 Cervical Squamous Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
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
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0280856 BXGD006767 Squamous cell carcinoma of vulva Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0281361 BXGD006774 Adenocarcinoma of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0302592 BXGD006851 Cervix carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0311361 BXGD006880 Adenomatous goiter Neoplasms; Endocrine System Diseases
C0332615 BXGD006898 Myopathic facies
C0334463 BXGD007076 Malignant Fibrous Histiocytoma Neoplasms
C0334482 BXGD007085 Fetal rhabdomyoma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0334574 BXGD007117 Calcifying Epithelial Odontogenic Tumor Neoplasms; Skin and Connective Tissue Diseases
C0334584 BXGD007125 Spongioblastoma Neoplasms
C0334596 BXGD007131 Medulloepithelioma Neoplasms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0341038 BXGD007385 Jaw Keratocyst Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
C0342190 BXGD007440 C-cell hyperplasia of thyroid Pathological Conditions, Signs and Symptoms; Endocrine System Diseases
C0342208 BXGD007445 Multinodular goiter Neoplasms; Endocrine System Diseases
C0343641 BXGD007636 Human papilloma virus infection Infections
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0345397 BXGD007734 Accessory rib Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0345893 BXGD007743 Juvenile polyposis syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
C0345967 BXGD007756 Malignant mesothelioma Neoplasms; Respiratory Tract Diseases
C0345996 BXGD007761 Milium Cyst Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases
C0346398 BXGD007822 Mixed follicular and papillary thyroid carcinoma
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0349588 BXGD007933 Short stature
C0349658 BXGD007947 Trichoepithelioma Neoplasms
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0376634 BXGD008006 Craniofacial Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0392514 BXGD008051 Hereditary hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0399558 BXGD008253 Glandular odontogenic cyst Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
C0403601 BXGD008298 Transplant glomerulopathy
C0410264 BXGD008423 Contracture of tendo achilles
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
C0423318 BXGD008478 Heterochromia iridis Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
C0423776 BXGD008508 Palmar pit
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424304 BXGD008526 Inappropriate laughter
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0424711 BXGD008541 Orbital separation diminished
C0426817 BXGD008585 Short ribs
C0431362 BXGD008670 Lobar Holoprosencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0431363 BXGD008671 Alobar Holoprosencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0431890 BXGD008712 Hypoplasia of thumb Musculoskeletal Diseases
C0432072 BXGD008718 Dysmorphic features
C0432073 BXGD008719 Defect of skull ossification
C0432122 BXGD008723 Interfrontal craniofaciosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432291 BXGD008767 Mandibuloacral dysostosis Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0432408 BXGD008785 Trisomy 12 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0457521 BXGD008890 Unicystic ameloblastoma Neoplasms
C0474808 BXGD008959 Follicular neoplasm Neoplasms
C0476073 BXGD008976 Papillary neoplasm Neoplasms
C0476089 BXGD008977 Endometrial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0489786 BXGD009018 Height
C0494165 BXGD009022 Secondary malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0496899 BXGD009046 Benign neoplasm of brain, unspecified Neoplasms; Nervous System Diseases
C0497550 BXGD009066 Benign neurologic neoplasms Neoplasms; 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
C0521170 BXGD009131 Osteoporotic Fractures Wounds and Injuries
C0521525 BXGD009139 Short neck
C0524620 BXGD009236 Metabolic Syndrome X Nutritional and Metabolic Diseases
C0545053 BXGD009323 Advanced bone age
C0546476 BXGD009340 Multiple self-healing squamous epithelioma Neoplasms; Skin and Connective Tissue Diseases
C0546837 BXGD009343 Malignant neoplasm of esophagus Digestive System Diseases; Neoplasms
C0549473 BXGD009384 Thyroid carcinoma Neoplasms; Endocrine System Diseases
C0553580 BXGD009399 Ewings sarcoma Neoplasms
C0553723 BXGD009416 Squamous cell carcinoma of skin Neoplasms; Skin and Connective Tissue Diseases
C0557874 BXGD009444 Global developmental delay
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0576093 BXGD009525 Knee joint valgus deformity Musculoskeletal Diseases
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0596887 BXGD009648 mathematical ability
C0598935 BXGD009674 Tumor Initiation Pathological Conditions, Signs and Symptoms; Neoplasms
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0600113 BXGD009691 Stromal tumor of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0677607 BXGD009721 Hashimoto Disease Endocrine System Diseases
C0677886 BXGD009734 Epithelial ovarian cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
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
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0694550 BXGD009852 Recurrent pneumonia Infections; Respiratory Tract Diseases
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0699893 BXGD009871 Skin carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0700367 BXGD009888 Ependymoblastoma Neoplasms
C0741899 BXGD010042 Poorly differentiated carcinoma
C0747085 BXGD010158 Recurrent otitis media Otorhinolaryngologic Diseases
C0749424 BXGD010217 Thyroid Hurthle Cell Carcinoma Neoplasms; Endocrine System Diseases
C0750952 BXGD010263 Biliary Tract Cancer Digestive System Diseases; Neoplasms
C0750974 BXGD010270 Brain Tumor, Primary Neoplasms; Nervous System Diseases
C0750977 BXGD010271 Recurrent Brain Neoplasm Neoplasms; Nervous System Diseases
C0750979 BXGD010272 Primary malignant neoplasm of brain Neoplasms; Nervous System Diseases
C0751291 BXGD010379 Desmoplastic Medulloblastoma Neoplasms
C0751617 BXGD010525 Semilobar Holoprosencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0751675 BXGD010548 Cerebral Primitive Neuroectodermal Tumor Neoplasms
C0751676 BXGD010549 Basal Cell Cancer Neoplasms
C0796160 BXGD010807 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0810364 BXGD010846 Cleft Lip with or without Cleft Palate
C0812437 BXGD010850 Oculo-dento-digital syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
C0846967 BXGD010865 Acanthoma Neoplasms
C0855073 BXGD011068 Undifferentiated (Embryonal) Sarcoma
C0856863 BXGD011122 Broad-based gait
C0862889 BXGD011267 Superficial basal cell carcinoma Neoplasms
C0917813 BXGD011417 Spina Bifida, Open Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0919267 BXGD011426 ovarian neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0920350 BXGD011466 Autoimmune thyroiditis Immune System Diseases; Endocrine System Diseases
C0949541 BXGD011578 Hurthle Cell Tumor Neoplasms
C1096086 BXGD011601 Deformity of lower limb
C1096654 BXGD011637 Cardiac fibroma Neoplasms; Cardiovascular Diseases
C1140680 BXGD011718 Malignant neoplasm of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1168401 BXGD011792 Squamous cell carcinoma of the head and neck Neoplasms
C1184919 BXGD011799 Thoracic kyphosis Musculoskeletal Diseases
C1185616 BXGD011801 Hair whorls
C1258085 BXGD011822 Barrett Epithelium Digestive System Diseases; Neoplasms
C1265736 BXGD011918 Orthokeratinized odontogenic cyst Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
C1266005 BXGD011930 Basaloid squamous cell carcinoma Neoplasms
C1266025 BXGD011935 Traditional Serrated Adenoma Neoplasms
C1266050 BXGD011945 Poorly Differentiated Thyroid Carcinoma Neoplasms; Endocrine System Diseases
C1269955 BXGD012005 Tumor Cell Invasion
C1275668 BXGD012090 Melanotic medulloblastoma Neoplasms
C1305968 BXGD012350 Eccrine dermal cylindroma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue 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
C1332852 BXGD012547 Cardiac rhabdomyoma Neoplasms; Cardiovascular Diseases
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1333015 BXGD012581 Childhood Kidney Wilms Tumor Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1333116 BXGD012598 Colorectal Traditional Serrated Adenoma
C1333190 BXGD012606 Cystic Neoplasm
C1333600 BXGD012636 Hereditary Malignant Neoplasm Neoplasms
C1334410 BXGD012705 Localized Primitive Neuroectodermal Tumor Neoplasms
C1334963 BXGD012748 Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma Neoplasms
C1336750 BXGD012861 Thyroid Gland Oncocytic Adenoma Neoplasms; Endocrine System Diseases
C1337013 BXGD012876 Differentiated Thyroid Gland Carcinoma
C1368275 BXGD012897 Pigmented Basal Cell Carcinoma Neoplasms
C1368295 BXGD012898 Malignant basal cell tumor Neoplasms
C1368683 BXGD012900 Epithelioma Neoplasms
C1368910 BXGD012905 Mature Teratoma Neoplasms
C1397139 BXGD012995 Calcification of falx cerebri
C1398522 BXGD013000 Cleft palate and bilateral cleft lip
C1456781 BXGD013123 Benign melanocytic nevus Neoplasms
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1511789 BXGD013183 Desmoplastic
C1519383 BXGD013237 Smoking Behaviors Behavior and Behavior Mechanisms
C1527390 BXGD013285 Neoplasms, Intracranial Neoplasms; Nervous System Diseases
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1578482 BXGD013427 Valgus deformities of feet Musculoskeletal 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
C1609528 BXGD013441 Restrictive deficit on pulmonary function testing Respiratory Tract Diseases
C1611743 BXGD013456 Familial (FPAH)
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1695776 BXGD013497 Vertebral wedging
C1707446 BXGD013587 Columnar Cell Hyperplasia of the Breast
C1708604 BXGD013608 Keratocystic Odontogenic Tumor Neoplasms
C1709457 BXGD013625 Papillary Thyroid Microcarcinoma Neoplasms; Endocrine System Diseases
C1739135 BXGD013733 Progression of prostate cancer
C1762616 BXGD013753 Meningioma, benign, no ICD-O subtype Neoplasms; Nervous System Diseases
C1800706 BXGD013755 Idiopathic Pulmonary Fibrosis Respiratory Tract Diseases
C1827524 BXGD013773 Wide spaced nipples
C1832661 BXGD013866 ANOPHTHALMIA AND PULMONARY HYPOPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
C1833144 BXGD013898 Slender long bone
C1833340 BXGD013918 Synostotic Posterior Plagiocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1834038 BXGD013952 Schilbach-Rott Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
C1834930 BXGD013999 Fusion of the left and right thalami
C1835820 BXGD014056 HOLOPROSENCEPHALY 7 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1837217 BXGD014206 Cleft lip, isolated
C1837218 BXGD014207 Cleft palate, isolated Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1837260 BXGD014214 Prominent forehead
C1837402 BXGD014228 Flat occiput
C1837404 BXGD014229 High, narrow palate
C1837785 BXGD014271 Prominent superficial veins
C1839767 BXGD014404 Tented upper lip vermilion
C1840077 BXGD014434 Anteverted nostril
C1840235 BXGD014436 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C1840238 BXGD014437 Midnasal stenosis
C1840309 BXGD014444 Short 4th metacarpal
C1840380 BXGD014460 Persistent cavum septum pellucidum
C1842083 BXGD014494 Abnormality of the ribs
C1842981 BXGD014547 NEUROTICISM Behavior and Behavior Mechanisms
C1843367 BXGD014576 Poor school performance
C1843496 BXGD014588 Bilateral microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1844806 BXGD014676 Weight less than 3rd percentile
C1844820 BXGD014681 Range of joint movement increased
C1845847 BXGD014760 Coarse facial features Pathological Conditions, Signs and Symptoms
C1846438 BXGD014816 Hypoplastic facial bones
C1847524 BXGD014870 Hyperopic astigmatism Eye Diseases
C1847886 BXGD014896 Anomalous branches of internal carotid artery
C1848395 BXGD014921 Large for gestational age Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C1849265 BXGD015028 Overgrowth
C1849334 BXGD015038 Robinow syndrome, autosomal recessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1849367 BXGD015046 Nasal bridge wide
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1850135 BXGD015112 Flared metaphysis
C1851085 BXGD015191 Severe expressive language delay
C1852301 BXGD015273 Plantar pits
C1853230 BXGD015317 Aphakia, congenital primary Eye Diseases
C1853242 BXGD015322 Midface retrusion
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1854114 BXGD015383 Short nose
C1854245 BXGD015389 Basal cell carcinoma, multiple Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C1854301 BXGD015391 Motor delay Mental Disorders
C1855728 BXGD015536 Low posterior hairline
C1855899 BXGD015558 Broad first metatarsal
C1856872 BXGD015647 Down-sloping shoulders
C1857025 BXGD015666 Progressive congenital scoliosis Musculoskeletal Diseases
C1857126 BXGD015678 Parietal bossing
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
C1857278 BXGD015690 Partial or complete agenesis of corpus callosum
C1859363 BXGD015880 Abnormality of dental eruption
C1859376 BXGD015883 Fused sternal ossification centers
C1859461 BXGD015895 Femoral bowing Musculoskeletal Diseases
C1859680 BXGD015917 Broad face
C1860493 BXGD015987 Abnormality of the sternum
C1860819 BXGD016002 Metopic synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1861305 BXGD016027 TARSAL-CARPAL COALITION SYNDROME Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1861324 BXGD016029 Short philtrum
C1861403 BXGD016045 Variable expressivity
C1862151 BXGD016110 BRACHYDACTYLY, TYPE A1 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1862304 BXGD016120 Hamartomatous polyp of stomach Digestive System Diseases; Neoplasms
C1862313 BXGD016121 Short distal phalanx of the thumb
C1862314 BXGD016122 Basal cell nevus Neoplasms
C1862839 BXGD016137 Anterior segment mesenchymal dysgenesis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1865014 BXGD016282 Long philtrum
C1865916 BXGD016355 Bilateral ptosis Eye Diseases
C1866959 BXGD016429 Sella Turcica, Bridged Nervous System Diseases; Endocrine System Diseases
C1868571 BXGD016508 Highly arched eyebrow
C1883008 BXGD016593 Serum Alanine Aminotransferase Measurement
C1962966 BXGD016678 Retinopathy, CTCAE
C2032780 BXGD016887 Palate fistula
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2720434 BXGD017532 Macroencephaly
C2732618 BXGD017556 Sessile Serrated Adenoma/Polyp
C2750604 BXGD017672 Median cleft lip and palate
C2751544 BXGD017725 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
C2919142 BXGD017867 Short Stature, CTCAE
C2931367 BXGD018010 Thyroid cancer, follicular Neoplasms
C2937358 BXGD018159 Cerebral Hemorrhage Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C2938924 BXGD018167 Oestrogen receptor positive breast cancer
C2939419 BXGD018178 Secondary Neoplasm Pathological Conditions, Signs and Symptoms; Neoplasms
C2986658 BXGD018234 Diffuse Intrinsic Pontine Glioma
C2986682 BXGD018238 Locally Recurrent Malignant Neoplasm
C3151617 BXGD018446 ANTERIOR SEGMENT DYSGENESIS 7
C3160731 BXGD018470 Pulmonary function (finding)
C3179349 BXGD018550 Gastrointestinal Stromal Sarcoma Digestive System Diseases; Neoplasms
C3179455 BXGD018552 Niemann-Pick Disease, Type C1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C3250443 BXGD018584 MYOTONIC DYSTROPHY 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3278509 BXGD018742 Spinal fusion
C3278923 BXGD018748 Dilated ventricles (finding)
C3463824 BXGD018899 MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases
C3489393 BXGD018928 Hiatal Hernia Pathological Conditions, Signs and Symptoms
C3495676 BXGD019000 Anorectal Malformations Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C3532947 BXGD019062 Severe receptive language delay
C3553450 BXGD019175 Profound global developmental delay
C3553764 BXGD019187 Joint hyperflexibility
C3711390 BXGD019394 9q22.3 Microdeletion Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C3714651 BXGD019423 Follicular Variant Thyroid Gland Papillary Carcinoma Neoplasms; Endocrine System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3805371 BXGD019476 Pits of palms and soles
C3805727 BXGD019486 MEGALENCEPHALY, AUTOSOMAL DOMINANT
C3811653 BXGD019662 Experimental Organism Basal Cell Carcinoma Neoplasms
C3828416 BXGD019740 Radiation Damage Wounds and Injuries
C3838465 BXGD019757 BASAL CELL CARCINOMA, SOMATIC
C3840565 BXGD019797 Autoimmune thyroid disease (AITD)
C3875007 BXGD019869 Nodular thyroid disease Endocrine System Diseases
C3896673 BXGD020041 Familial Nonmedullary Thyroid Gland Carcinoma
C4020770 BXGD020479 Hypoplasia of the premaxilla
C4020919 BXGD020498 Dense metaphyseal bands
C4021260 BXGD020602 Long metacarpals
C4021598 BXGD020692 Distal tibial bowing
C4021638 BXGD020712 Absent nasal septal cartilage
C4021655 BXGD020723 Abnormality of the sense of smell
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4021790 BXGD020782 Abnormality of the skeletal system
C4021813 BXGD020799 Oral cleft
C4022171 BXGD020891 Periauricular skin pits
C4022592 BXGD020932 Oral motor hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4022680 BXGD020954 Lagopthalmos
C4022757 BXGD020986 Moderate hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4022758 BXGD020987 Mild hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4022919 BXGD021038 Appendicular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4023249 BXGD021150 Patent ductus arteriosus after birth at term Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4023330 BXGD021155 Abnormal Descemet membrane morphology
C4023518 BXGD021208 Abnormality of skin adnexa morphology
C4023759 BXGD021259 Flat nasal alae
C4023801 BXGD021265 Fibular bowing Musculoskeletal Diseases
C4023802 BXGD021266 Hyperextensibility of the knee
C4023808 BXGD021268 Hyperextensibility at elbow
C4023930 BXGD021279 Enlarged epiphyses of the proximal phalanges of the hand
C4024168 BXGD021296 Thickened ears
C4024202 BXGD021303 Reduced number of teeth
C4024230 BXGD021313 Contracture of the distal interphalangeal joint of the fingers
C4024589 BXGD021330 Aplasia/Hypoplasia of the mandible
C4025138 BXGD021564 Multiple skeletal anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4025374 BXGD021654 Irregular ossification of hand bones
C4025411 BXGD021660 Midline defect of the nose
C4025542 BXGD021664 Humeral cortical thickening
C4025842 BXGD021822 Abnormal uvea morphology
C4025871 BXGD021839 Abnormality of the face
C4048328 BXGD021903 cervical cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4049446 BXGD021933 Neointimal hyperplasia
C4082169 BXGD022084 Metatarsus Varus Musculoskeletal Diseases
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4287590 BXGD022470 Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features Neoplasms; Endocrine System Diseases
C4310809 BXGD022675 ANTERIOR SEGMENT DYSGENESIS 5
C4321245 BXGD022744 Cleft lip or lips
C4330671 BXGD022805 Medulloblastoma, SHH-Activated
C4476818 BXGD022875 Nevus sebaceus Neoplasms
C4505456 BXGD022964 HIV Coinfection Infections; Immune System Diseases
C4520821 BXGD023039 Stage 0 Breast Cancer AJCC v6 and v7 Neoplasms; Skin and Connective Tissue Diseases
C4521042 BXGD023055 Complete Trisomy 21 Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4551506 BXGD023326 Paroxysmal Nonkinesigenic Dyskinesia 1 Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4551563 BXGD023351 Microcephaly (physical finding)
C4551564 BXGD023352 Narrow nasal bridge
C4551570 BXGD023357 2-3 toe syndactyly
C4551687 BXGD023392 Sarcoma of soft tissue Neoplasms
C4721567 BXGD023756 Theca cell tumor of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C4721610 BXGD023760 Carcinoma, Ovarian Epithelial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C4721788 BXGD023771 Bifid ribs
C4721806 BXGD023772 Carcinoma, Basal Cell Neoplasms
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4722172 BXGD023791 Primary differentiated carcinoma of thyroid gland
C4727087 BXGD023856 Metastatic Lung Carcinoma
C4733333 BXGD023920 familial non-medullary thyroid cancer Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0038316 Cholesterol 386.35
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