| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001916 |
BXGD000089 |
Albinism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0001973 |
BXGD000095 |
Alcoholic Intoxication, Chronic |
Chemically-Induced Disorders; Mental Disorders |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002793 |
BXGD000130 |
Anaplasia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0002965 |
BXGD000162 |
Angina, Unstable |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004106 |
BXGD000254 |
Astigmatism |
Eye 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 |
| C0004565 |
BXGD000276 |
Melanoma, B16 |
Neoplasms |
| C0004936 |
BXGD000295 |
Mental disorders |
Mental Disorders |
| C0005586 |
BXGD000315 |
Bipolar Disorder |
Mental Disorders |
| 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 |
| C0007114 |
BXGD000431 |
Malignant neoplasm of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007117 |
BXGD000433 |
Basal cell carcinoma |
Neoplasms |
| C0007129 |
BXGD000439 |
Merkel cell carcinoma |
Neoplasms; Infections |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007965 |
BXGD000508 |
Chediak-Higashi Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0009763 |
BXGD000628 |
Conjunctivitis |
Eye Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0010823 |
BXGD000690 |
Cytomegalovirus Infections |
Infections |
| C0011603 |
BXGD000734 |
Dermatitis |
Skin and Connective Tissue Diseases |
| C0011615 |
BXGD000738 |
Dermatitis, Atopic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0015310 |
BXGD000976 |
Exotropia |
Eye Diseases; Nervous System Diseases |
| C0015396 |
BXGD000982 |
Eye Color |
|
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0016689 |
BXGD001073 |
Freckles |
Skin and Connective Tissue Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0018498 |
BXGD001195 |
Hair Color |
|
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018923 |
BXGD001248 |
Hemangiosarcoma |
Neoplasms |
| C0019202 |
BXGD001302 |
Hepatolenticular Degeneration |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0019212 |
BXGD001306 |
Hepatorenal Syndrome |
Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0019880 |
BXGD001351 |
Homocystinuria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C0020302 |
BXGD001373 |
Hydrophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| C0021400 |
BXGD001504 |
Influenza |
Infections; Respiratory Tract Diseases |
| C0022078 |
BXGD001526 |
Iris Diseases |
Eye Diseases |
| C0022602 |
BXGD001564 |
Actinic keratosis |
Neoplasms; Skin and Connective Tissue Diseases |
| C0022603 |
BXGD001565 |
Seborrheic keratosis |
Skin and Connective Tissue Diseases |
| C0022660 |
BXGD001571 |
Kidney Failure, Acute |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022672 |
BXGD001574 |
Acute Kidney Tubular Necrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023321 |
BXGD001634 |
Lentigo |
Skin and Connective Tissue Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023470 |
BXGD001659 |
Myeloid Leukemia |
Neoplasms |
| C0023492 |
BXGD001671 |
Leukemia, T-Cell |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023493 |
BXGD001672 |
Adult T-Cell Lymphoma/Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023890 |
BXGD001713 |
Liver Cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024440 |
BXGD001774 |
Macular Edema, Cystoid |
Eye Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025209 |
BXGD001834 |
Melanosis |
Skin and Connective Tissue Diseases |
| C0025218 |
BXGD001836 |
Chloasma |
Skin and Connective Tissue Diseases |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027809 |
BXGD002040 |
Neurilemmoma |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0027962 |
BXGD002064 |
Melanocytic nevus |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029131 |
BXGD002116 |
Abnormality of the optic nerve |
|
| C0030354 |
BXGD002214 |
Papilloma |
Neoplasms |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0031039 |
BXGD002274 |
Pericardial effusion |
Cardiovascular Diseases |
| C0032897 |
BXGD002378 |
Prader-Willi Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0033860 |
BXGD002438 |
Psoriasis |
Skin and Connective Tissue Diseases |
| C0033975 |
BXGD002447 |
Psychotic Disorders |
Mental Disorders |
| C0035300 |
BXGD002526 |
Abnormal retinal morphology |
Eye Diseases |
| C0035305 |
BXGD002529 |
Retinal Detachment |
Eye Diseases |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036651 |
BXGD002628 |
Solar lentigo |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0037274 |
BXGD002676 |
Dermatologic disorders |
Skin and Connective Tissue Diseases |
| C0037278 |
BXGD002678 |
Skin Diseases, Infectious |
Infections; Skin and Connective Tissue Diseases |
| C0037284 |
BXGD002679 |
Skin lesion |
Skin and Connective Tissue Diseases |
| C0037286 |
BXGD002681 |
Skin Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C0037290 |
BXGD002683 |
Skin Pigmentation |
|
| C0037354 |
BXGD002690 |
Smallpox |
Infections |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040420 |
BXGD002861 |
Tonometry |
|
| C0040517 |
BXGD002872 |
Gilles de la Tourette syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0040997 |
BXGD002894 |
Trigeminal Neuralgia |
Nervous System Diseases; Stomatognathic Diseases |
| C0041341 |
BXGD002918 |
Tuberous Sclerosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0042170 |
BXGD002969 |
Uveomeningoencephalitic Syndrome |
Eye Diseases; Immune System Diseases; Nervous System Diseases |
| C0042842 |
BXGD003005 |
Vitamin A Deficiency |
Nutritional and Metabolic Diseases |
| C0042900 |
BXGD003012 |
Vitiligo |
Skin and Connective Tissue Diseases |
| C0078917 |
BXGD003054 |
Albinism, Ocular |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0078918 |
BXGD003055 |
Albinism, Oculocutaneous |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0078921 |
BXGD003056 |
Albinism, Tyrosinase-Negative |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0078922 |
BXGD003057 |
Albinism, Tyrosinase-Positive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0078923 |
BXGD003058 |
Albinism, Yellow-Mutant |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0079504 |
BXGD003080 |
Hermanski-Pudlak Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases |
| C0080024 |
BXGD003104 |
Piebaldism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0085136 |
BXGD003131 |
Central Nervous System Neoplasms |
Neoplasms; Nervous System Diseases |
| C0085636 |
BXGD003218 |
Photophobia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0085669 |
BXGD003233 |
Acute leukemia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151779 |
BXGD003473 |
Cutaneous Melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0151891 |
BXGD003499 |
Retinal depigmentation |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases |
| C0152459 |
BXGD003600 |
Linear atrophy |
Pathological Conditions, Signs and Symptoms |
| C0153535 |
BXGD003661 |
Malignant melanoma of skin of upper limb |
Neoplasms; Skin and Connective Tissue Diseases |
| C0153536 |
BXGD003662 |
Malignant melanoma of skin of lower limb |
Neoplasms; Skin and Connective Tissue Diseases |
| C0153594 |
BXGD003669 |
Malignant neoplasm of testis |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases |
| C0153687 |
BXGD003683 |
Secondary malignant neoplasm of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0153690 |
BXGD003684 |
Secondary malignant neoplasm of bone |
Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases |
| C0154920 |
BXGD003755 |
Pigmentary iris degeneration |
Eye Diseases; Skin and Connective Tissue Diseases |
| C0155626 |
BXGD003806 |
Acute myocardial infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0162674 |
BXGD003973 |
Chronic progressive external ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0162830 |
BXGD003987 |
Dermatitis, Phototoxic |
Skin and Connective Tissue Diseases |
| C0162835 |
BXGD003989 |
Hypopigmentation disorder |
Skin and Connective Tissue Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206633 |
BXGD004198 |
Angiomyolipoma |
Neoplasms |
| C0206651 |
BXGD004215 |
Clear Cell Sarcoma of Soft Tissue |
Neoplasms |
| C0206710 |
BXGD004258 |
Basal Cell Neoplasm |
Neoplasms |
| C0206735 |
BXGD004280 |
Melanoma, Amelanotic |
Neoplasms |
| C0206737 |
BXGD004282 |
Nevus, Intradermal |
Neoplasms |
| C0220633 |
BXGD004303 |
Uveal melanoma |
Neoplasms; Eye Diseases |
| C0221436 |
BXGD004461 |
Melanoderma (disorder) |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0234632 |
BXGD004691 |
Reduced visual acuity |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0234985 |
BXGD004708 |
Mental deterioration |
Mental Disorders |
| C0236734 |
BXGD004823 |
Caffeine related disorders |
|
| C0239804 |
BXGD004995 |
White hair |
|
| C0241165 |
BXGD005083 |
Thick skin |
|
| C0242596 |
BXGD005181 |
Neoplasm, Residual |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0242852 |
BXGD005197 |
Proliferative vitreoretinopathy |
Eye Diseases |
| C0242994 |
BXGD005205 |
Hantavirus Infections |
Infections |
| C0262977 |
BXGD005274 |
Achromia of skin |
Skin and Connective Tissue Diseases |
| C0268490 |
BXGD005962 |
Tyrosinemia, Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0268494 |
BXGD005963 |
Oculocutaneous albinism type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0268495 |
BXGD005964 |
Oculocutaneous albinism type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0268500 |
BXGD005966 |
Yellow mutant oculocutaneous albinism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0268503 |
BXGD005967 |
Autosomal recessive ocular albinism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0271051 |
BXGD006153 |
Macular retinal edema |
Eye Diseases |
| C0271385 |
BXGD006193 |
Horizontal Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0276640 |
BXGD006436 |
Transmissible mink encephalopathy |
Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases |
| C0278592 |
BXGD006544 |
Adult Angiosarcoma |
Neoplasms |
| C0278880 |
BXGD006611 |
Stage I Cutaneous Melanoma AJCC v6 |
|
| C0278881 |
BXGD006612 |
stage II melanoma |
|
| C0278882 |
BXGD006613 |
Stage III Cutaneous Melanoma AJCC v6 |
|
| C0278883 |
BXGD006614 |
Metastatic melanoma |
Neoplasms |
| C0279988 |
BXGD006707 |
Childhood Angiosarcoma |
Neoplasms |
| C0280100 |
BXGD006713 |
Solid Neoplasm |
Neoplasms |
| C0311251 |
BXGD006870 |
Simple buphthalmos |
|
| C0333008 |
BXGD006916 |
Congenital hypopigmentation |
Skin and Connective Tissue Diseases |
| C0333516 |
BXGD006957 |
Tumor necrosis |
Pathological Conditions, Signs and Symptoms |
| C0334424 |
BXGD007064 |
Nodular melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0334439 |
BXGD007069 |
Malignant desmoplastic melanoma |
Neoplasms |
| C0337439 |
BXGD007160 |
Iron measurement |
|
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0339619 |
BXGD007274 |
Congenital esotropia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0342257 |
BXGD007447 |
Complications of Diabetes Mellitus |
Endocrine System Diseases |
| C0342552 |
BXGD007505 |
Autoimmune endocrine disease |
Immune System Diseases; Endocrine System Diseases |
| C0342684 |
BXGD007525 |
Ocular albinism, type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C0346053 |
BXGD007770 |
Atypical fibroxanthoma of skin |
Neoplasms |
| C0346977 |
BXGD007839 |
Secondary malignant neoplasm of spleen |
Neoplasms; Hemic and Lymphatic Diseases |
| C0349204 |
BXGD007892 |
Nonorganic psychosis |
Mental Disorders |
| C0349515 |
BXGD007913 |
Amelanotic Skin Melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0406208 |
BXGD008330 |
Suntan |
|
| C0428578 |
BXGD008634 |
Iron level result |
|
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0522214 |
BXGD009196 |
Abnormal visual evoked potential |
Nervous System Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0525045 |
BXGD009255 |
Mood Disorders |
Mental Disorders |
| C0549567 |
BXGD009387 |
Pigmentation Disorders |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0553723 |
BXGD009416 |
Squamous cell carcinoma of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0555198 |
BXGD009432 |
Malignant Glioma |
Neoplasms |
| C0578626 |
BXGD009551 |
blue iris (physical finding) |
|
| C0595936 |
BXGD009628 |
Aqueous Humor Disorders |
Eye Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0600518 |
BXGD009711 |
Choroidal Neovascularization |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C0677932 |
BXGD009736 |
Progressive Neoplastic Disease |
|
| C0677944 |
BXGD009738 |
Sentinel node (disorder) |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0742343 |
BXGD010061 |
Acute Chest Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases |
| C0751202 |
BXGD010347 |
Cystathionine beta-Synthase Deficiency Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C0751676 |
BXGD010549 |
Basal Cell Cancer |
Neoplasms |
| C0751781 |
BXGD010590 |
Dentatorubral-Pallidoluysian Atrophy |
Nervous System Diseases |
| C0860594 |
BXGD011234 |
Malignant melanoma, metastatic |
Neoplasms |
| C0870082 |
BXGD011309 |
Hyperkeratosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0877008 |
BXGD011325 |
Enzyme inhibition disorder |
|
| C0948089 |
BXGD011504 |
Acute Coronary Syndrome |
Cardiovascular Diseases |
| C1096063 |
BXGD011600 |
Drug Resistant Epilepsy |
Nervous System Diseases |
| C1096099 |
BXGD011602 |
Iris transillumination defect |
|
| C1260926 |
BXGD011844 |
Abnormal pigmentation |
|
| C1266184 |
BXGD011991 |
Atypical Teratoid Rhabdoid Tumor |
Neoplasms |
| C1269683 |
BXGD012001 |
Major Depressive Disorder |
Mental Disorders |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1285498 |
BXGD012171 |
Vegetation |
|
| C1298180 |
BXGD012246 |
Single tumor |
|
| C1304470 |
BXGD012339 |
Generalized vitiligo |
Skin and Connective Tissue Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1313983 |
BXGD012385 |
Acute contagious conjunctivitis |
Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases |
| C1321872 |
BXGD012446 |
Stage IV Skin Melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C1328931 |
BXGD012477 |
Multiple lentigines |
|
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1368275 |
BXGD012897 |
Pigmented Basal Cell Carcinoma |
Neoplasms |
| C1377589 |
BXGD012923 |
Regressing nevus |
|
| C1456781 |
BXGD013123 |
Benign melanocytic nevus |
Neoplasms |
| C1519670 |
BXGD013241 |
Tumor Angiogenesis |
Pathological Conditions, Signs and Symptoms |
| C1519680 |
BXGD013244 |
Tumor Immunity |
Pathological Conditions, Signs and Symptoms |
| C1527390 |
BXGD013285 |
Neoplasms, Intracranial |
Neoplasms; Nervous System Diseases |
| C1533041 |
BXGD013307 |
Primary congenital glaucoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C1568247 |
BXGD013418 |
Usher Syndrome, Type I |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1697878 |
BXGD013510 |
BK virus nephropathy |
Infections |
| C1704421 |
BXGD013558 |
Skin Pigmentation Disorder |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1840264 |
BXGD014439 |
IMMUNE SUPPRESSION |
|
| C1845069 |
BXGD014706 |
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1847024 |
BXGD014850 |
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C1847132 |
BXGD014853 |
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C1847835 |
BXGD014892 |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) |
Skin and Connective Tissue Diseases |
| C1848606 |
BXGD014950 |
Vestibular hypofunction |
|
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1849221 |
BXGD015024 |
Fair hair |
|
| C1853141 |
BXGD015307 |
Slow decrease in visual acuity |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1863198 |
BXGD016154 |
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) |
|
| C1864172 |
BXGD016217 |
Peroxisome Biogenesis Disorder, Complementation Group G |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1876214 |
BXGD016567 |
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2314896 |
BXGD017019 |
Familial Atypical Mole Melanoma Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C2347613 |
BXGD017039 |
Childhood Atypical Teratoid/Rhabdoid Tumor |
|
| C2673946 |
BXGD017234 |
Foveal hypoplasia (finding) |
|
| C2673954 |
BXGD017235 |
Absent skin pigmentation |
Skin and Connective Tissue Diseases |
| C2676026 |
BXGD017321 |
Optic nerve dysplasia |
|
| C2677190 |
BXGD017367 |
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder) |
|
| C2931205 |
BXGD017977 |
Usher syndrome, type 1A |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C2931599 |
BXGD018039 |
Oculocutaneous albinism type 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2931875 |
BXGD018087 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3149136 |
BXGD018276 |
SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES |
|
| C3152204 |
BXGD018462 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 |
|
| C3266262 |
BXGD018600 |
Multiple Chronic Conditions |
Pathological Conditions, Signs and Symptoms |
| C3266898 |
BXGD018606 |
Waardenburg Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C3278401 |
BXGD018739 |
Hypopigmentation of hair |
|
| C3539781 |
BXGD019086 |
Progressive cGVHD |
|
| 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 |
| C3665593 |
BXGD019294 |
Melanocytic nevus of skin |
Neoplasms |
| C3806221 |
BXGD019501 |
Giant melanosomes in melanocytes |
|
| C3811653 |
BXGD019662 |
Experimental Organism Basal Cell Carcinoma |
Neoplasms |
| C3854222 |
BXGD019826 |
Human immunodeficiency virus (HIV) II infection category B1 |
|
| C3875321 |
BXGD019874 |
Inflammatory dermatosis |
Skin and Connective Tissue Diseases |
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4024172 |
BXGD021299 |
Abnormality of hair pigmentation |
|
| C4053528 |
BXGD021968 |
Cribriform Neuroepithelial Tumor |
Neoplasms |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4316870 |
BXGD022707 |
Abnormality of the eye |
|
| C4520731 |
BXGD023036 |
Stage II Cutaneous Melanoma AJCC v6 and v7 |
|
| C4520732 |
BXGD023037 |
Stage IV Cutaneous Melanoma AJCC v6 and v7 |
|
| C4525234 |
BXGD023130 |
Xiphophorus Melanoma |
|
| C4551504 |
BXGD023324 |
Oculocutaneous albinism type 1A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C4553962 |
BXGD023553 |
Hyperkeratosis, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721806 |
BXGD023772 |
Carcinoma, Basal Cell |
Neoplasms |
| C4725091 |
BXGD023828 |
metastatic intraocular melanoma |
Neoplasms; Eye Diseases |
| C4725861 |
BXGD023840 |
Metastatic Malignant Neoplasm in the Viscera |
|
| C4732730 |
BXGD023895 |
Blood spots |
|