| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002793 |
BXGD000130 |
Anaplasia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007787 |
BXGD000487 |
Transient Ischemic Attack |
Nervous System Diseases; Cardiovascular Diseases |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009324 |
BXGD000597 |
Ulcerative Colitis |
Digestive System Diseases |
| C0009375 |
BXGD000602 |
Colonic Neoplasms |
Digestive System Diseases; Neoplasms |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0019825 |
BXGD001349 |
Hoarseness |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027794 |
BXGD002036 |
Neural Tube Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0027809 |
BXGD002040 |
Neurilemmoma |
Neoplasms |
| C0027830 |
BXGD002046 |
neurofibroma |
Neoplasms; Nervous System Diseases |
| C0027831 |
BXGD002047 |
Neurofibromatosis 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0027962 |
BXGD002064 |
Melanocytic nevus |
Neoplasms |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0032914 |
BXGD002379 |
Pre-Eclampsia |
Female Urogenital Diseases and Pregnancy Complications |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0039273 |
BXGD002806 |
Talipes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0162678 |
BXGD003974 |
Neurofibromatoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0205824 |
BXGD004128 |
Liposarcoma, Dedifferentiated |
Neoplasms |
| C0206698 |
BXGD004248 |
Cholangiocarcinoma |
Neoplasms |
| C0206727 |
BXGD004272 |
Nerve Sheath Tumors |
Neoplasms; Nervous System Diseases |
| C0220668 |
BXGD004317 |
Congenital contractural arachnodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0220765 |
BXGD004340 |
Weaver-Like Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0239137 |
BXGD004965 |
Coxa valga |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239479 |
BXGD004982 |
Round face |
|
| C0241240 |
BXGD005089 |
Tall stature |
|
| C0263523 |
BXGD005320 |
Micronychia (disorder) |
Skin and Connective Tissue Diseases |
| C0265210 |
BXGD005463 |
Weaver syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0278985 |
BXGD006619 |
Adult Extraskeletal Osteosarcoma |
|
| C0302142 |
BXGD006831 |
Deformity |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423823 |
BXGD008515 |
Thin nails |
Pathological Conditions, Signs and Symptoms |
| C0423867 |
BXGD008517 |
Fine hair |
|
| C0426870 |
BXGD008592 |
Large hand |
|
| C0426891 |
BXGD008595 |
Broad thumbs |
|
| C0431369 |
BXGD008674 |
Dysgenesis of corpus callosum |
|
| C0431447 |
BXGD008690 |
Synophrys |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0545053 |
BXGD009323 |
Advanced bone age |
|
| C0549629 |
BXGD009393 |
Abnormal delivery |
|
| C0553580 |
BXGD009399 |
Ewings sarcoma |
Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0563243 |
BXGD009479 |
Poor coordination |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0576225 |
BXGD009526 |
Long foot |
Musculoskeletal Diseases |
| C0581342 |
BXGD009560 |
Redundant skin |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0751374 |
BXGD010418 |
Schwannomatosis, Plexiform |
Neoplasms |
| C0751689 |
BXGD010552 |
Peripheral Nerve Sheath Neoplasm |
Neoplasms; Nervous System Diseases |
| C0751690 |
BXGD010553 |
Malignant Peripheral Nerve Sheath Tumor |
Neoplasms; Nervous System Diseases |
| C0751691 |
BXGD010554 |
Perineurioma |
Neoplasms; Nervous System Diseases |
| C0855052 |
BXGD011062 |
Extraskeletal Osteosarcoma |
Neoplasms |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1512409 |
BXGD013188 |
Hepatocarcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837279 |
BXGD014217 |
Hypoplastic toenails |
|
| C1838705 |
BXGD014341 |
Anteriorly placed anus |
|
| C1839797 |
BXGD014409 |
Deep philtrum |
|
| C1840069 |
BXGD014433 |
Sandal gap |
|
| C1844813 |
BXGD014679 |
Widely spaced teeth |
|
| C1848657 |
BXGD014959 |
Long ear |
|
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1849265 |
BXGD015028 |
Overgrowth |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1858091 |
BXGD015771 |
Long fingers |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859236 |
BXGD015867 |
Prolonged neonatal jaundice |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865027 |
BXGD016287 |
Hypoplastic iliac wing |
|
| C1866241 |
BXGD016389 |
Broad foot |
Musculoskeletal Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2986658 |
BXGD018234 |
Diffuse Intrinsic Pontine Glioma |
|
| C2986703 |
BXGD018240 |
Overgrowth Syndrome |
Pathological Conditions, Signs and Symptoms |
| C3277753 |
BXGD018722 |
Deep-set nails |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4012968 |
BXGD020124 |
Mild global developmental delay |
|
| C4023915 |
BXGD021274 |
Abnormally low-pitched voice |
|
| C4025814 |
BXGD021806 |
Abnormality of the metaphysis |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4072903 |
BXGD022020 |
Primary Caesarian section |
|
| C4479654 |
BXGD022946 |
COHEN-GIBSON SYNDROME |
|
| C4551838 |
BXGD023417 |
Talipes transversoplanus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|