| C0000744 |
BXGD000006 |
Abetalipoproteinemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0001815 |
BXGD000078 |
Primary Myelofibrosis |
Hemic and Lymphatic Diseases |
| C0002893 |
BXGD000150 |
Refractory anemias |
Hemic and Lymphatic Diseases |
| C0002894 |
BXGD000151 |
Refractory anaemia with excess blasts |
Hemic and Lymphatic Diseases |
| C0003507 |
BXGD000203 |
Aortic Valve Stenosis |
Cardiovascular Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0005699 |
BXGD000325 |
Blast Phase |
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005859 |
BXGD000342 |
Bloom Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007787 |
BXGD000487 |
Transient Ischemic Attack |
Nervous System Diseases; Cardiovascular Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| C0014070 |
BXGD000887 |
Encephalomyelitis |
Infections; Nervous System Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017185 |
BXGD001104 |
Gastrointestinal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018273 |
BXGD001189 |
Growth Disorders |
Pathological Conditions, Signs and Symptoms |
| C0019284 |
BXGD001312 |
Diaphragmatic Hernia |
Pathological Conditions, Signs and Symptoms |
| C0020456 |
BXGD001392 |
Hyperglycemia |
Nutritional and Metabolic Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0021364 |
BXGD001500 |
Male infertility |
Male Urogenital Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023449 |
BXGD001650 |
Acute lymphocytic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023452 |
BXGD001651 |
Childhood Acute Lymphoblastic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023473 |
BXGD001661 |
Myeloid Leukemia, Chronic |
Neoplasms; Hemic and Lymphatic Diseases |
| C0023480 |
BXGD001664 |
Leukemia, Myelomonocytic, Chronic |
Neoplasms; Hemic and Lymphatic Diseases |
| 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 |
| C0024282 |
BXGD001755 |
Lymphocytosis |
Hemic and Lymphatic Diseases |
| C0024314 |
BXGD001767 |
Lymphoproliferative Disorders |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024419 |
BXGD001769 |
Waldenstrom Macroglobulinemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026266 |
BXGD001895 |
Mitral Valve Insufficiency |
Cardiovascular Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026499 |
BXGD001905 |
Monosomy |
Pathological Conditions, Signs and Symptoms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026654 |
BXGD001914 |
Moyamoya Disease |
Nervous System Diseases; Cardiovascular Diseases |
| C0026948 |
BXGD001952 |
Mycosis Fungoides |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0026985 |
BXGD001956 |
Myelodysplasia |
|
| C0027019 |
BXGD001961 |
Myelomonocytic leukemia |
Neoplasms |
| C0027022 |
BXGD001962 |
Myeloproliferative disease |
Hemic and Lymphatic Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028326 |
BXGD002075 |
Noonan Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0032181 |
BXGD002332 |
Platelet Count measurement |
|
| C0032463 |
BXGD002357 |
Polycythemia Vera |
Neoplasms; Hemic and Lymphatic Diseases |
| C0032827 |
BXGD002376 |
Potassium Deficiency |
Nutritional and Metabolic Diseases |
| C0033027 |
BXGD002388 |
Preleukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0036421 |
BXGD002613 |
Systemic Scleroderma |
Skin and Connective Tissue Diseases |
| C0036920 |
BXGD002645 |
Sezary Syndrome |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0037274 |
BXGD002676 |
Dermatologic disorders |
Skin and Connective Tissue Diseases |
| C0038436 |
BXGD002755 |
Post-Traumatic Stress Disorder |
Mental Disorders |
| C0040028 |
BXGD002835 |
Thrombocythemia, Essential |
Hemic and Lymphatic Diseases |
| C0042373 |
BXGD002978 |
Vascular Diseases |
Cardiovascular Diseases |
| C0042384 |
BXGD002979 |
Vasculitis |
Cardiovascular Diseases |
| C0079731 |
BXGD003087 |
B-Cell Lymphomas |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0079773 |
BXGD003100 |
Lymphoma, T-Cell, Cutaneous |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085669 |
BXGD003233 |
Acute leukemia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0085996 |
BXGD003260 |
Child Development Deviations |
Mental Disorders |
| C0085997 |
BXGD003261 |
Child Development Disorders, Specific |
Mental Disorders |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0149630 |
BXGD003334 |
Bicuspid aortic valve |
Cardiovascular Diseases |
| C0152101 |
BXGD003540 |
Hypoplastic Left Heart Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0158465 |
BXGD003887 |
Acquired cubitus valgus |
|
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206161 |
BXGD004167 |
Reticulocyte count (procedure) |
|
| C0206656 |
BXGD004219 |
Embryonal Rhabdomyosarcoma |
Neoplasms |
| C0221013 |
BXGD004363 |
Mastocytosis, Systemic |
Neoplasms; Immune System Diseases |
| C0221217 |
BXGD004408 |
Neck webbing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0221263 |
BXGD004427 |
Cafe-au-Lait Spots |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238198 |
BXGD004893 |
Gastrointestinal Stromal Tumors |
Digestive System Diseases; Neoplasms |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0265219 |
BXGD005468 |
Miller Dieker syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279612 |
BXGD006650 |
Childhood Embryonal Rhabdomyosarcoma |
Neoplasms |
| C0279629 |
BXGD006660 |
Adult Acute Monoblastic Leukemia |
Neoplasms |
| C0279645 |
BXGD006669 |
Childhood Acute Monoblastic Leukemia |
|
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0280449 |
BXGD006746 |
secondary acute myeloid leukemia |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0334663 |
BXGD007149 |
Histiocytic sarcoma |
Neoplasms; Hemic and Lymphatic Diseases |
| C0346180 |
BXGD007791 |
Malignant Ovarian Germ Cell Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0349639 |
BXGD007943 |
Juvenile Myelomonocytic Leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0375021 |
BXGD007969 |
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site |
|
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0409974 |
BXGD008401 |
Lupus Erythematosus |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases |
| C0410000 |
BXGD008406 |
Overlap syndrome |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423867 |
BXGD008517 |
Fine hair |
|
| C0424731 |
BXGD008542 |
Single transverse palmar crease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0426848 |
BXGD008590 |
Sacral dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0426891 |
BXGD008595 |
Broad thumbs |
|
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0431663 |
BXGD008700 |
Bilateral Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0431664 |
BXGD008701 |
Unilateral Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0457334 |
BXGD008888 |
Acute monoblastic leukemia |
Neoplasms |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0544886 |
BXGD009319 |
Somatic mutation |
|
| C0553580 |
BXGD009399 |
Ewings sarcoma |
Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0588125 |
BXGD009621 |
Nodular tenosynovitis |
Neoplasms; Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0741916 |
BXGD010044 |
Cardiac defects |
|
| C0751606 |
BXGD010523 |
Adult Acute Lymphocytic Leukemia |
|
| C0795841 |
BXGD010746 |
Jacobsen Distal 11q Deletion Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0795842 |
BXGD010747 |
chromosome 11q duplication syndrome |
Pathological Conditions, Signs and Symptoms |
| C0836924 |
BXGD010864 |
Thrombocytosis |
Hemic and Lymphatic Diseases |
| C0848676 |
BXGD010883 |
Subfertility, Male |
Male Urogenital Diseases |
| C0856053 |
BXGD011091 |
Leukemia secondary |
|
| C0917731 |
BXGD011407 |
Male sterility |
Male Urogenital Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1261473 |
BXGD011855 |
Sarcoma |
Neoplasms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1292778 |
BXGD012237 |
Chronic myeloproliferative disorder |
Neoplasms; Hemic and Lymphatic Diseases |
| C1301355 |
BXGD012287 |
Myelodysplastic-Myeloproliferative Diseases |
Hemic and Lymphatic Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1318543 |
BXGD012400 |
Fibrous histiocytoma of tendon sheath |
Neoplasms; Musculoskeletal Diseases |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1333046 |
BXGD012585 |
Myeloproliferative Neoplasm, Unclassifiable |
|
| C1563730 |
BXGD013394 |
Abdominal Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C1563731 |
BXGD013395 |
Inguinal Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1834120 |
BXGD013955 |
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases |
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1839797 |
BXGD014409 |
Deep philtrum |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C2931384 |
BXGD018014 |
Moyamoya disease 1 |
Nervous System Diseases; Cardiovascular Diseases |
| C2981142 |
BXGD018210 |
Refractory anemia, without ringed sideroblasts, without excess blasts |
Hemic and Lymphatic Diseases |
| C3150803 |
BXGD018339 |
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA |
|
| C3266262 |
BXGD018600 |
Multiple Chronic Conditions |
Pathological Conditions, Signs and Symptoms |
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3642347 |
BXGD019246 |
Basal-Like Breast Carcinoma |
|
| C3839741 |
BXGD019782 |
Core binding factor acute myeloid leukemia |
Neoplasms |
| C4016301 |
BXGD020305 |
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA |
|
| C4230920 |
BXGD022300 |
Fetal hydrops (in some patients) |
|
| C4528176 |
BXGD023157 |
High Risk Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C4551602 |
BXGD023369 |
Noonan Syndrome 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C4551686 |
BXGD023391 |
Malignant neoplasm of soft tissue |
Neoplasms |