| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000846 |
BXGD000015 |
Agenesis |
|
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0003028 |
BXGD000170 |
Anhidrosis |
Skin and Connective Tissue Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0004623 |
BXGD000282 |
Bacterial Infections |
Infections |
| C0004943 |
BXGD000297 |
Behcet Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008370 |
BXGD000534 |
Cholestasis |
Digestive System Diseases |
| C0008707 |
BXGD000565 |
Chronic osteomyelitis |
Infections; Musculoskeletal Diseases |
| C0008767 |
BXGD000570 |
Cicatrization |
Pathological Conditions, Signs and Symptoms |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0011603 |
BXGD000734 |
Dermatitis |
Skin and Connective Tissue Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013371 |
BXGD000823 |
Shigella Infections |
Digestive System Diseases; Infections |
| C0013374 |
BXGD000824 |
Dysgammaglobulinemia |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0013575 |
BXGD000854 |
Ectodermal Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0014038 |
BXGD000878 |
Encephalitis |
Nervous System Diseases |
| C0014457 |
BXGD000915 |
Eosinophilia |
Hemic and Lymphatic Diseases |
| C0015230 |
BXGD000969 |
Exanthema |
Skin and Connective Tissue Diseases |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0015696 |
BXGD001014 |
Fatty Liver, Alcoholic |
Digestive System Diseases; Chemically-Induced Disorders |
| C0017658 |
BXGD001138 |
Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018801 |
BXGD001226 |
Heart failure |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018965 |
BXGD001258 |
Hematuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0019069 |
BXGD001277 |
Hemophilia A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0019163 |
BXGD001295 |
Hepatitis B |
Digestive System Diseases; Infections |
| C0019189 |
BXGD001298 |
Hepatitis, Chronic |
Digestive System Diseases |
| C0019207 |
BXGD001303 |
Hepatoma, Morris |
Digestive System Diseases; Neoplasms |
| C0019208 |
BXGD001304 |
Hepatoma, Novikoff |
Digestive System Diseases; Neoplasms |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0020458 |
BXGD001393 |
Hyperhidrosis disorder |
Skin and Connective Tissue Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0021051 |
BXGD001475 |
Immunologic Deficiency Syndromes |
Immune System Diseases |
| C0021171 |
BXGD001488 |
Bloch Sulzberger syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0021390 |
BXGD001503 |
Inflammatory Bowel Diseases |
Digestive System Diseases |
| C0022104 |
BXGD001529 |
Irritable Bowel Syndrome |
Digestive System Diseases |
| C0022568 |
BXGD001552 |
Keratitis |
Eye Diseases |
| C0022660 |
BXGD001571 |
Kidney Failure, Acute |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022735 |
BXGD001581 |
Klinefelter Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0022739 |
BXGD001583 |
Klippel-Trenaunay-Weber Syndrome |
Cardiovascular Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023487 |
BXGD001669 |
Acute Promyelocytic Leukemia |
Neoplasms |
| C0023524 |
BXGD001681 |
Leukoencephalopathy, Progressive Multifocal |
Infections; Nervous System Diseases |
| C0023530 |
BXGD001683 |
Leukopenia |
Hemic and Lymphatic Diseases |
| C0023893 |
BXGD001716 |
Liver Cirrhosis, Experimental |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0023904 |
BXGD001721 |
Liver Neoplasms, Experimental |
Digestive System Diseases; Neoplasms |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024236 |
BXGD001752 |
Lymphedema |
Hemic and Lymphatic Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025209 |
BXGD001834 |
Melanosis |
Skin and Connective Tissue 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 |
| C0026393 |
BXGD001902 |
Molluscum Contagiosum |
Infections; Skin and Connective Tissue Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0026918 |
BXGD001948 |
Mycobacterium Infections |
Infections |
| C0026919 |
BXGD001949 |
Mycobacterium Infections, Nontuberculous |
Infections |
| C0027497 |
BXGD001993 |
Nausea |
Pathological Conditions, Signs and Symptoms |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027697 |
BXGD002022 |
Nephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027831 |
BXGD002047 |
Neurofibromatosis 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0027947 |
BXGD002061 |
Neutropenia |
Hemic and Lymphatic Diseases |
| C0029118 |
BXGD002111 |
Opportunistic Infections |
Infections |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029443 |
BXGD002152 |
Osteomyelitis |
Infections; Musculoskeletal Diseases |
| C0029454 |
BXGD002155 |
Osteopetrosis |
Musculoskeletal Diseases |
| C0030232 |
BXGD002197 |
Pallor |
Pathological Conditions, Signs and Symptoms |
| C0030305 |
BXGD002206 |
Pancreatitis |
Digestive System Diseases |
| C0032285 |
BXGD002344 |
Pneumonia |
Infections; Respiratory Tract Diseases |
| C0035235 |
BXGD002519 |
Respiratory Syncytial Virus Infections |
Infections |
| C0035305 |
BXGD002529 |
Retinal Detachment |
Eye Diseases |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0035317 |
BXGD002533 |
Retinal Hemorrhage |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C0035320 |
BXGD002535 |
Retinal Neovascularization |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C0036220 |
BXGD002587 |
Kaposi Sarcoma |
Neoplasms; Infections |
| C0036421 |
BXGD002613 |
Systemic Scleroderma |
Skin and Connective Tissue Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037274 |
BXGD002676 |
Dermatologic disorders |
Skin and Connective Tissue Diseases |
| C0037277 |
BXGD002677 |
Skin Diseases, Genetic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0037284 |
BXGD002679 |
Skin lesion |
Skin and Connective Tissue Diseases |
| C0037286 |
BXGD002681 |
Skin Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C0037299 |
BXGD002685 |
Skin Ulcer |
Skin and Connective Tissue Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040427 |
BXGD002864 |
Tooth Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0041341 |
BXGD002918 |
Tuberous Sclerosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0041834 |
BXGD002935 |
Erythema |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0042164 |
BXGD002965 |
Uveitis |
Eye Diseases |
| C0042373 |
BXGD002978 |
Vascular Diseases |
Cardiovascular Diseases |
| C0042842 |
BXGD003005 |
Vitamin A Deficiency |
Nutritional and Metabolic Diseases |
| C0043037 |
BXGD003023 |
Common wart |
Neoplasms; Infections; Skin and Connective Tissue Diseases |
| C0080174 |
BXGD003106 |
Spina Bifida Occulta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0086404 |
BXGD003278 |
Experimental Hepatoma |
Digestive System Diseases; Neoplasms |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0150993 |
BXGD003405 |
Pitting of nails |
Skin and Connective Tissue Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0162359 |
BXGD003939 |
Christ-Siemens-Touraine syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0162678 |
BXGD003974 |
Neurofibromatoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0175713 |
BXGD004014 |
Aicardi's syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0206698 |
BXGD004248 |
Cholangiocarcinoma |
Neoplasms |
| C0220630 |
BXGD004302 |
Adult Liver Carcinoma |
Digestive System Diseases; Neoplasms |
| C0220633 |
BXGD004303 |
Uveal melanoma |
Neoplasms; Eye Diseases |
| C0221260 |
BXGD004424 |
Dystrophia unguium |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221391 |
BXGD004456 |
Melanosis coli |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases |
| C0221505 |
BXGD004466 |
Lesion of brain |
|
| C0231341 |
BXGD004492 |
Premature aging syndrome |
Pathological Conditions, Signs and Symptoms |
| C0238790 |
BXGD004956 |
bone destruction |
|
| C0239174 |
BXGD004969 |
Late tooth eruption |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0239998 |
BXGD005012 |
Recurrent infections |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0242647 |
BXGD005184 |
Mucosa-Associated Lymphoid Tissue Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0263374 |
BXGD005295 |
Lichen striatus |
Skin and Connective Tissue Diseases |
| C0263537 |
BXGD005323 |
Onychogryposis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0265219 |
BXGD005468 |
Miller Dieker syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0265245 |
BXGD005479 |
Nager syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases |
| C0265316 |
BXGD005513 |
Neurocutaneous Syndromes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C0265594 |
BXGD005553 |
Congenital absence of hand |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265677 |
BXGD005564 |
Congenital hemivertebra |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266009 |
BXGD005604 |
Congenital absence of breast |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266011 |
BXGD005605 |
Accessory nipple |
Skin and Connective Tissue Diseases |
| C0266013 |
BXGD005606 |
Congenital hypoplasia of breast |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0272236 |
BXGD006327 |
Hyperimmunoglobulin M syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0276226 |
BXGD006408 |
Herpes encephalitis |
Infections; Nervous System Diseases |
| C0277959 |
BXGD006487 |
Coarse hair |
|
| C0279000 |
BXGD006622 |
Liver and Intrahepatic Biliary Tract Carcinoma |
Digestive System Diseases; Neoplasms |
| C0333516 |
BXGD006957 |
Tumor necrosis |
Pathological Conditions, Signs and Symptoms |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0341439 |
BXGD007408 |
Chronic liver disease |
Digestive 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 |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0375206 |
BXGD007973 |
Hemiplegia/hemiparesis |
|
| C0398650 |
BXGD008212 |
Immune thrombocytopenic purpura |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0398686 |
BXGD008215 |
Primary immune deficiency disorder |
Immune System Diseases |
| C0398689 |
BXGD008216 |
Hyper-IgM Immunodeficiency Syndrome, Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0398795 |
BXGD008235 |
Secondary immune deficiency disorder |
Infections; Immune System Diseases |
| C0400966 |
BXGD008266 |
Non-alcoholic Fatty Liver Disease |
Digestive System Diseases |
| C0406612 |
BXGD008356 |
Encephalocraniocutaneous lipomatosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0410740 |
BXGD008449 |
Acquired deformity of finger |
Musculoskeletal Diseases |
| C0423820 |
BXGD008514 |
Ridged nails |
|
| C0423867 |
BXGD008517 |
Fine hair |
|
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0426868 |
BXGD008591 |
Absence of hand |
|
| C0432355 |
BXGD008780 |
Hypoplasia of nipple |
|
| C0494261 |
BXGD009023 |
Combined immunodeficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C0520459 |
BXGD009084 |
Necrotizing Enterocolitis |
Digestive System Diseases |
| C0542514 |
BXGD009277 |
Blue sclera |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0857836 |
BXGD011159 |
JC virus infection |
Infections |
| C0860040 |
BXGD011213 |
BCG infection |
|
| C0870082 |
BXGD011309 |
Hyperkeratosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0917798 |
BXGD011409 |
Cerebral Ischemia |
Nervous System Diseases; Cardiovascular Diseases |
| C0947751 |
BXGD011494 |
Vascular inflammations |
Cardiovascular Diseases |
| C0948908 |
BXGD011564 |
Nephrotoxic serum nephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1260926 |
BXGD011844 |
Abnormal pigmentation |
|
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1274879 |
BXGD012047 |
Port-wine stain with oculocutaneous melanosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1320214 |
BXGD012421 |
Invasive Streptococcus pneumoniae disease |
Infections |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1335929 |
BXGD012814 |
Schwannomatosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C1512409 |
BXGD013188 |
Hepatocarcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1706004 |
BXGD013569 |
Anhydrotic Ectodermal Dysplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C1737260 |
BXGD013726 |
Recurrent mycobacterium avium complex infections |
|
| C1833225 |
BXGD013904 |
Dystrophic toenail |
|
| C1834405 |
BXGD013970 |
Nail dysplasia |
Pathological Conditions, Signs and Symptoms |
| C1836735 |
BXGD014155 |
hypopigmented skin patch |
Skin and Connective Tissue Diseases |
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1843112 |
BXGD014557 |
Broad nail |
|
| C1844376 |
BXGD014627 |
Granulomatous Disease, Chronic, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1844383 |
BXGD014628 |
Recurrent bacterial infection |
Infections |
| C1845073 |
BXGD014707 |
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder) |
Infections; Immune System Diseases |
| C1845117 |
BXGD014712 |
Immunodeficiency without anhidrotic ectodermal dysplasia |
Immune System Diseases |
| C1845919 |
BXGD014768 |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1846006 |
BXGD014771 |
Ectodermal dysplasia, hypohidrotic, with immune deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases |
| C1846008 |
BXGD014772 |
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1849392 |
BXGD015047 |
Ridged fingernail |
|
| C1850900 |
BXGD015186 |
Familial primary gastric lymphoma |
Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1855179 |
BXGD015468 |
CATARACT, ANTERIOR POLAR |
Eye Diseases |
| C1856136 |
BXGD015580 |
Conical incisor |
|
| C1856786 |
BXGD015645 |
Hypoplastic fingernail |
|
| C1860236 |
BXGD015969 |
Irregular hyperpigmentation |
Skin and Connective Tissue Diseases |
| C1955634 |
BXGD016604 |
Kaposi's sarcoma-associated herpesvirus infection |
|
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C1969623 |
BXGD016782 |
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1970879 |
BXGD016850 |
ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections |
| C2132198 |
BXGD016930 |
Abnormal blistering of the skin |
|
| C2169794 |
BXGD016933 |
Recurrent streptococcus pneumoniae infections |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2673946 |
BXGD017234 |
Foveal hypoplasia (finding) |
|
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2720289 |
BXGD017531 |
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C2745900 |
BXGD017568 |
Promyelocytic leukemia |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2973725 |
BXGD018205 |
Pulmonary arterial hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C3151088 |
BXGD018394 |
IMMUNODEFICIENCY 31B |
|
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3241937 |
BXGD018578 |
Nonalcoholic Steatohepatitis |
Digestive System Diseases |
| C3267073 |
BXGD018613 |
Autoinflammatory disease |
|
| C3279947 |
BXGD018789 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3539920 |
BXGD019089 |
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE |
|
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3665596 |
BXGD019295 |
Warts |
Infections; Skin and Connective Tissue Diseases |
| C3714636 |
BXGD019421 |
Pneumonitis |
Infections; Respiratory Tract Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3875321 |
BXGD019874 |
Inflammatory dermatosis |
Skin and Connective Tissue Diseases |
| C3887494 |
BXGD019881 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C4021800 |
BXGD020790 |
Abnormality of dental enamel |
|
| C4021813 |
BXGD020799 |
Oral cleft |
|
| C4022018 |
BXGD020872 |
Telangiectasia of the skin |
Cardiovascular Diseases |
| C4022025 |
BXGD020875 |
Asymmetric growth |
|
| C4025109 |
BXGD021558 |
Abnormal hand morphology |
Musculoskeletal Diseases |
| C4025314 |
BXGD021638 |
Atrophic, patchy alopecia |
Skin and Connective Tissue Diseases |
| C4025672 |
BXGD021723 |
Impaired memory B cell generation |
|
| C4025844 |
BXGD021824 |
Abnormal chorioretinal morphology |
|
| C4025860 |
BXGD021833 |
Hearing abnormality |
|
| C4082304 |
BXGD022090 |
Oligodontia |
|
| C4082937 |
BXGD022095 |
Necrotizing enterocolitis in fetus OR newborn |
Digestive System Diseases |
| C4225596 |
BXGD022282 |
INCONTINENTIA PIGMENTI, ATYPICAL |
|
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551695 |
BXGD023396 |
Retinal vascular proliferation |
|
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4553962 |
BXGD023553 |
Hyperkeratosis, CTCAE |
|
| C4721411 |
BXGD023735 |
Osteolysis |
Musculoskeletal Diseases |