| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000846 |
BXGD000015 |
Agenesis |
|
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0002874 |
BXGD000134 |
Aplastic Anemia |
Hemic and Lymphatic Diseases |
| C0002876 |
BXGD000136 |
Congenital dyserythropoietic anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0002878 |
BXGD000137 |
Anemia, Hemolytic |
Hemic and Lymphatic Diseases |
| C0002886 |
BXGD000144 |
Anemia, Macrocytic |
Hemic and Lymphatic Diseases |
| C0002895 |
BXGD000152 |
Anemia, Sickle Cell |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0003123 |
BXGD000178 |
Anorexia |
Pathological Conditions, Signs and Symptoms |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003469 |
BXGD000195 |
Anxiety Disorders |
Mental Disorders |
| C0003492 |
BXGD000198 |
Aortic coarctation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0004610 |
BXGD000281 |
Bacteremia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0005283 |
BXGD000308 |
beta Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006370 |
BXGD000394 |
Bulimia |
Pathological Conditions, Signs and Symptoms |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007370 |
BXGD000462 |
Catalepsy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0007847 |
BXGD000492 |
Malignant tumor of cervix |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007868 |
BXGD000498 |
Cervical dysplasia |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0008924 |
BXGD000574 |
Cleft upper lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0009324 |
BXGD000597 |
Ulcerative Colitis |
Digestive System Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011881 |
BXGD000760 |
Diabetic Nephropathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0011882 |
BXGD000761 |
Diabetic Neuropathies |
Nervous System Diseases; Endocrine System Diseases |
| C0011884 |
BXGD000762 |
Diabetic Retinopathy |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0013080 |
BXGD000797 |
Down Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0013146 |
BXGD000801 |
Drug abuse |
Chemically-Induced Disorders; Mental Disorders |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014070 |
BXGD000887 |
Encephalomyelitis |
Infections; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014553 |
BXGD000931 |
Absence Epilepsy |
Nervous System Diseases |
| C0015393 |
BXGD000981 |
Eye Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015625 |
BXGD001006 |
Fanconi Anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017612 |
BXGD001129 |
Glaucoma, Open-Angle |
Eye Diseases |
| C0018564 |
BXGD001204 |
Hand deformities |
Musculoskeletal Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018939 |
BXGD001253 |
Hematological Disease |
Hemic and Lymphatic Diseases |
| C0019163 |
BXGD001295 |
Hepatitis B |
Digestive System Diseases; Infections |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0019829 |
BXGD001350 |
Hodgkin Disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0020179 |
BXGD001363 |
Huntington Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0020429 |
BXGD001378 |
Hyperalgesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0020456 |
BXGD001392 |
Hyperglycemia |
Nutritional and Metabolic Diseases |
| C0020492 |
BXGD001404 |
Hyperostosis |
Musculoskeletal Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020550 |
BXGD001429 |
Hyperthyroidism |
Endocrine System Diseases |
| C0021051 |
BXGD001475 |
Immunologic Deficiency Syndromes |
Immune System Diseases |
| C0021400 |
BXGD001504 |
Influenza |
Infections; Respiratory Tract Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022660 |
BXGD001571 |
Kidney Failure, Acute |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022738 |
BXGD001582 |
Klippel-Feil Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023462 |
BXGD001654 |
Acute Megakaryocytic Leukemias |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0024131 |
BXGD001736 |
Lupus Vulgaris |
Infections; Skin and Connective Tissue Diseases |
| C0024138 |
BXGD001738 |
Lupus Erythematosus, Discoid |
Skin and Connective Tissue Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024530 |
BXGD001783 |
Malaria |
Infections |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0026985 |
BXGD001956 |
Myelodysplasia |
|
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0028841 |
BXGD002090 |
Ocular Hypotension |
Eye Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030232 |
BXGD002197 |
Pallor |
Pathological Conditions, Signs and Symptoms |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0031036 |
BXGD002273 |
Polyarteritis Nodosa |
Skin and Connective Tissue Diseases; Cardiovascular Diseases |
| C0031099 |
BXGD002282 |
Periodontitis |
Stomatognathic Diseases |
| C0032231 |
BXGD002339 |
Pleurisy |
Infections; Respiratory Tract Diseases |
| C0032285 |
BXGD002344 |
Pneumonia |
Infections; Respiratory Tract Diseases |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0034902 |
BXGD002494 |
Pure Red-Cell Aplasia |
Hemic and Lymphatic Diseases |
| C0035455 |
BXGD002554 |
Rhinitis |
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037274 |
BXGD002676 |
Dermatologic disorders |
Skin and Connective Tissue Diseases |
| C0037889 |
BXGD002709 |
Hereditary spherocytosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0038356 |
BXGD002747 |
Stomach Neoplasms |
Digestive System Diseases; Neoplasms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038436 |
BXGD002755 |
Post-Traumatic Stress Disorder |
Mental Disorders |
| C0040147 |
BXGD002847 |
Thyroiditis |
Endocrine System Diseases |
| C0040149 |
BXGD002848 |
Subacute thyroiditis |
Endocrine System Diseases |
| C0042769 |
BXGD002999 |
Virus Diseases |
Infections |
| C0085110 |
BXGD003126 |
Severe Combined Immunodeficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C0085390 |
BXGD003160 |
Li-Fraumeni Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases |
| C0085662 |
BXGD003230 |
Macrocytosis |
|
| C0085669 |
BXGD003233 |
Acute leukemia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0154823 |
BXGD003744 |
Retinal defect |
Eye Diseases |
| C0156259 |
BXGD003845 |
Hypertrophy of kidney |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0158995 |
BXGD003917 |
Congenital anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0162323 |
BXGD003937 |
Polyarthritis |
Musculoskeletal Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0220633 |
BXGD004303 |
Uveal melanoma |
Neoplasms; Eye Diseases |
| C0220810 |
BXGD004346 |
Congenital defects |
|
| C0221217 |
BXGD004408 |
Neck webbing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0221239 |
BXGD004416 |
Rapidly progressive glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0231706 |
BXGD004518 |
Circling gait |
|
| C0234533 |
BXGD004687 |
Generalized seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234535 |
BXGD004688 |
Clonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0235874 |
BXGD004781 |
Disease Exacerbation |
Pathological Conditions, Signs and Symptoms |
| C0236734 |
BXGD004823 |
Caffeine related disorders |
|
| C0238478 |
BXGD004940 |
Transient erythroblastopenia of childhood |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0238644 |
BXGD004949 |
Anemia, severe |
Hemic and Lymphatic Diseases |
| C0238790 |
BXGD004956 |
bone destruction |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241391 |
BXGD005093 |
Thumb absent |
|
| C0241397 |
BXGD005095 |
Triphalangeal thumb |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0242387 |
BXGD005161 |
Mandibulofacial Dysostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases |
| C0242490 |
BXGD005171 |
Enthesopathy |
Musculoskeletal Diseases; Wounds and Injuries |
| C0265265 |
BXGD005491 |
Aase syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0265700 |
BXGD005568 |
Congenital hernia of foramen of Bochdalek |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0265965 |
BXGD005592 |
Dyskeratosis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases |
| C0270844 |
BXGD006115 |
Tonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270971 |
BXGD006146 |
Floppy infant syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0272048 |
BXGD006297 |
stomatocytic anemia |
Hemic and Lymphatic Diseases |
| C0272138 |
BXGD006308 |
Erythroblastosis |
|
| C0272170 |
BXGD006312 |
Shwachman syndrome |
|
| C0277828 |
BXGD006480 |
Late fontanel closure |
|
| C0280100 |
BXGD006713 |
Solid Neoplasm |
Neoplasms |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0334070 |
BXGD006986 |
Maturation defect |
|
| C0338908 |
BXGD007218 |
Mixed anxiety and depressive disorder |
Mental Disorders |
| C0340970 |
BXGD007379 |
Congenital neutropenia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0349251 |
BXGD007897 |
Behavioral syndrome associated with physiological disturbance and physical factors |
Mental Disorders |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0393591 |
BXGD008102 |
AICARDI-GOUTIERES SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases |
| C0403416 |
BXGD008282 |
Idiopathic crescentic glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0403529 |
BXGD008291 |
Anti-Glomerular Basement Membrane Disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases |
| C0409974 |
BXGD008401 |
Lupus Erythematosus |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423319 |
BXGD008479 |
Atrophic iris |
Eye Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0426790 |
BXGD008577 |
Narrow thorax |
|
| C0427032 |
BXGD008600 |
Ankle stiff |
|
| C0431890 |
BXGD008712 |
Hypoplasia of thumb |
Musculoskeletal Diseases |
| C0442874 |
BXGD008814 |
Neuropathy |
Nervous System Diseases |
| C0455988 |
BXGD008860 |
Hydrops Fetalis, Non-Immune |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0542035 |
BXGD009268 |
Erythroid hypoplasia |
|
| C0595921 |
BXGD009626 |
Intraocular pressure disorder |
Eye Diseases |
| C0595936 |
BXGD009628 |
Aqueous Humor Disorders |
Eye Diseases |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0683357 |
BXGD009785 |
Excessive drinking |
|
| C0683381 |
BXGD009787 |
inflammatory joint disease |
|
| C0685381 |
BXGD009809 |
Congenital hypoplasia of radius |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0685889 |
BXGD009823 |
Splenic Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0740997 |
BXGD010021 |
Anemia, normochromic macrocytic |
|
| C0741237 |
BXGD010027 |
arthritis symptoms |
|
| C0741949 |
BXGD010047 |
Cardiovascular Pathology |
|
| C0744356 |
BXGD010094 |
Abnormality of the genital system |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0751122 |
BXGD010325 |
Infantile Severe Myoclonic Epilepsy |
Nervous System Diseases |
| C0751791 |
BXGD010595 |
Reflex Epilepsy, Audiogenic |
Nervous System Diseases |
| C0836924 |
BXGD010864 |
Thrombocytosis |
Hemic and Lymphatic Diseases |
| C0851140 |
BXGD010916 |
Carcinoma in situ of uterine cervix |
Neoplasms |
| C0858867 |
BXGD011196 |
Reticulocytopenia |
|
| C0877221 |
BXGD011343 |
Decreased erythroid precursor production |
|
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0949116 |
BXGD011571 |
Congenital hypoplastic anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1260899 |
BXGD011841 |
Anemia, Diamond-Blackfan |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1275685 |
BXGD012092 |
Avellino corneal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1282952 |
BXGD012153 |
Enthesitis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Wounds and Injuries |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1536075 |
BXGD013333 |
Sudden unexplained death in epilepsy |
|
| C1542667 |
BXGD013357 |
Congenital erythroid hypoplasia |
|
| C1708349 |
BXGD013597 |
Hereditary Diffuse Gastric Cancer |
Digestive System Diseases; Neoplasms |
| C1827301 |
BXGD013769 |
Extensively Drug-Resistant Tuberculosis |
Infections |
| C1837218 |
BXGD014207 |
Cleft palate, isolated |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1839333 |
BXGD014369 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 |
Nervous System Diseases |
| C1839731 |
BXGD014397 |
11 pairs of ribs |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1853118 |
BXGD015302 |
Severe congenital neutropenia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1853666 |
BXGD015350 |
Anemia, Diamond-Blackfan, 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854520 |
BXGD015412 |
SEBASTIAN SYNDROME |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases |
| C1855229 |
BXGD015474 |
Spondylometaphyseal dysplasia, Sedaghatian type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| 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 |
| C1857941 |
BXGD015756 |
Brooke-Spiegler syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases |
| C1861218 |
BXGD016021 |
Hypoplastic ilia |
|
| C1867923 |
BXGD016475 |
Posterior column ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1868598 |
BXGD016514 |
PARIETAL FORAMINA |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1963099 |
BXGD016682 |
Myelodysplasia, CTCAE |
|
| C1969372 |
BXGD016775 |
Tubulointerstitial fibrosis |
|
| C2062441 |
BXGD016897 |
Influenza A |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2347761 |
BXGD017049 |
Childhood Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C2673892 |
BXGD017230 |
Ductal plate malformation |
|
| C2676137 |
BXGD017323 |
Diamond-Blackfan Anemia 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C2751478 |
BXGD017714 |
Bifid thoracic vertebrae |
|
| C2751479 |
BXGD017715 |
Hypoplastic sacral vertebrae |
|
| C2751480 |
BXGD017716 |
Hypoplastic coccygeal vertebrae |
|
| C2751481 |
BXGD017717 |
Mild radial hypoplasia |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931245 |
BXGD017986 |
Bone Marrow failure syndromes |
|
| C2931258 |
BXGD017991 |
Amaurosis congenita of Leber, type 1 |
Eye Diseases |
| C2981150 |
BXGD018211 |
Uranostaphyloschisis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2986691 |
BXGD018239 |
Inherited bone marrow failure syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases |
| C3266262 |
BXGD018600 |
Multiple Chronic Conditions |
Pathological Conditions, Signs and Symptoms |
| C3278811 |
BXGD018746 |
Thumb aplasia |
Musculoskeletal Diseases |
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3469521 |
BXGD018910 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3711383 |
BXGD019388 |
Early-Onset Glaucoma |
Eye Diseases |
| C3714636 |
BXGD019421 |
Pneumonitis |
Infections; Respiratory Tract Diseases |
| C3841475 |
BXGD019800 |
beta^+^ Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C3900098 |
BXGD020106 |
Adult Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C4021821 |
BXGD020806 |
Abnormality of the urinary system |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C4022547 |
BXGD020914 |
Elevated red cell adenosine deaminase activity |
|
| C4048328 |
BXGD021903 |
cervical cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C4048329 |
BXGD021904 |
Immunosuppression |
|
| C4082168 |
BXGD022083 |
Partial duplication of thumb phalanx |
|
| C4228778 |
BXGD022292 |
Abnormality of radial ray |
|
| C4285959 |
BXGD022465 |
Erosive arthritis |
|
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4521042 |
BXGD023055 |
Complete Trisomy 21 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |