| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001144 |
BXGD000028 |
Acne Vulgaris |
Skin and Connective Tissue Diseases |
| C0003466 |
BXGD000193 |
Anus, Imperforate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005741 |
BXGD000328 |
Blepharitis |
Eye Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007138 |
BXGD000446 |
Carcinoma, Transitional Cell |
Neoplasms |
| C0007847 |
BXGD000492 |
Malignant tumor of cervix |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0008297 |
BXGD000522 |
Choanal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
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 |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0018418 |
BXGD001192 |
Gynecomastia |
Skin and Connective Tissue Diseases |
| C0018777 |
BXGD001217 |
Conductive hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019572 |
BXGD001338 |
Hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0020179 |
BXGD001363 |
Huntington Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020545 |
BXGD001427 |
Hypertension, Renovascular |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0022680 |
BXGD001576 |
Polycystic Kidney Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023267 |
BXGD001626 |
Fibroid Tumor |
Neoplasms |
| C0023452 |
BXGD001651 |
Childhood Acute Lymphoblastic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023493 |
BXGD001672 |
Adult T-Cell Lymphoma/Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024115 |
BXGD001732 |
Lung diseases |
Respiratory Tract Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0025995 |
BXGD001885 |
Micromelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027022 |
BXGD001962 |
Myeloproliferative disease |
Hemic and Lymphatic Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0027960 |
BXGD002062 |
Nevus |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0030499 |
BXGD002232 |
Parasitic Diseases |
Infections |
| C0032339 |
BXGD002352 |
Rothmund-Thomson syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0033027 |
BXGD002388 |
Preleukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0034069 |
BXGD002458 |
Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C0034194 |
BXGD002472 |
Pyloric Stenosis |
Digestive System Diseases |
| C0035372 |
BXGD002544 |
Rett Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0036323 |
BXGD002595 |
Schistosomiasis |
Infections |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036690 |
BXGD002632 |
Septicemia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037822 |
BXGD002706 |
Speech Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0039273 |
BXGD002806 |
Talipes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0039685 |
BXGD002825 |
Tetralogy of Fallot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0042133 |
BXGD002960 |
Uterine Fibroids |
Neoplasms |
| C0042580 |
BXGD002992 |
Vesico-Ureteral Reflux |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042961 |
BXGD003017 |
Intestinal Volvulus |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0078981 |
BXGD003059 |
Arachnoid Cysts |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0079772 |
BXGD003099 |
T-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0079773 |
BXGD003100 |
Lymphoma, T-Cell, Cutaneous |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085633 |
BXGD003216 |
Mood swings |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0154536 |
BXGD003719 |
Amphetamine or related acting sympathomimetic abuse |
Chemically-Induced Disorders; Mental Disorders |
| C0158761 |
BXGD003905 |
Radioulnar Synostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0221210 |
BXGD004406 |
Congenital malrotation of intestine |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0232939 |
BXGD004568 |
Primary physiologic amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0239174 |
BXGD004969 |
Late tooth eruption |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0259779 |
BXGD005218 |
Fibrous Dysplasia |
|
| C0263401 |
BXGD005298 |
Cutis marmorata |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries |
| C0265660 |
BXGD005561 |
Syndactyly of the toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266011 |
BXGD005605 |
Accessory nipple |
Skin and Connective Tissue Diseases |
| C0266383 |
BXGD005660 |
Uterine Anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266544 |
BXGD005691 |
Microcornea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0268790 |
BXGD006039 |
Renal vascular disorder |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C0270972 |
BXGD006147 |
Cornelia De Lange Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0271007 |
BXGD006152 |
Phthisis bulbi |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0278701 |
BXGD006566 |
Gastric Adenocarcinoma |
Digestive System Diseases; Neoplasms |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0345905 |
BXGD007746 |
Intrahepatic Cholangiocarcinoma |
Neoplasms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0426886 |
BXGD008594 |
Tapering fingers (finding) |
|
| C0431447 |
BXGD008690 |
Synophrys |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432355 |
BXGD008780 |
Hypoplasia of nipple |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0497406 |
BXGD009064 |
Overweight |
Pathological Conditions, Signs and Symptoms |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0566899 |
BXGD009494 |
Small labia majora |
|
| C0575802 |
BXGD009521 |
Small hand |
|
| C0576226 |
BXGD009527 |
Short foot |
|
| C0578038 |
BXGD009542 |
Thin lips |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600104 |
BXGD009690 |
Obsessive compulsive behavior |
Behavior and Behavior Mechanisms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0700201 |
BXGD009880 |
Dyssomnias |
Nervous System Diseases; Mental Disorders |
| C0702166 |
BXGD009912 |
Acne |
Skin and Connective Tissue Diseases |
| C0728895 |
BXGD009919 |
Absent finger |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0751690 |
BXGD010553 |
Malignant Peripheral Nerve Sheath Tumor |
Neoplasms; Nervous System Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0851578 |
BXGD010925 |
Sleep Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0854917 |
BXGD011050 |
Rhabdoid Tumor of the Kidney |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0919747 |
BXGD011439 |
Cytokine storm |
|
| C1135161 |
BXGD011690 |
Stage 4S neuroblastoma |
|
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1292778 |
BXGD012237 |
Chronic myeloproliferative disorder |
Neoplasms; Hemic and Lymphatic Diseases |
| C1301937 |
BXGD012300 |
Talipes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1302790 |
BXGD012313 |
Congenital malformation syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1328407 |
BXGD012465 |
Hip Dysplasia |
Musculoskeletal Diseases; Wounds and Injuries |
| C1386048 |
BXGD012950 |
Intrauterine retardation |
|
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1389018 |
BXGD012963 |
Atrioventricular Septal Defect |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1800706 |
BXGD013755 |
Idiopathic Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1839736 |
BXGD014399 |
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842060 |
BXGD014491 |
Prominent supraorbital ridges |
|
| C1842366 |
BXGD014512 |
Low anterior hairline |
|
| C1842878 |
BXGD014543 |
Short 5th finger |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1844813 |
BXGD014679 |
Widely spaced teeth |
|
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1849211 |
BXGD015023 |
Generalized hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1849311 |
BXGD015034 |
Short 1st metacarpal |
|
| C1849510 |
BXGD015061 |
Prenatal movement abnormality |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853487 |
BXGD015340 |
Thick eyebrow |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1855728 |
BXGD015536 |
Low posterior hairline |
|
| C1856115 |
BXGD015574 |
Happy demeanor |
|
| C1857042 |
BXGD015669 |
Sparse scalp hair |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857641 |
BXGD015727 |
Severe postnatal growth retardation |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858732 |
BXGD015826 |
Malar prominence |
|
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1862095 |
BXGD016100 |
Bilateral single transverse palmar creases |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1865572 |
BXGD016331 |
Proximal placement of thumb |
|
| C1866190 |
BXGD016384 |
Atresia of the external auditory canal |
|
| C1866195 |
BXGD016385 |
Downturned corners of mouth |
|
| C1867103 |
BXGD016438 |
Limited elbow extension |
|
| C1868571 |
BXGD016508 |
Highly arched eyebrow |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2145472 |
BXGD016931 |
Urothelial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2673670 |
BXGD017220 |
Curly eyelashes |
|
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2986665 |
BXGD018237 |
Early-Stage Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C3266262 |
BXGD018600 |
Multiple Chronic Conditions |
Pathological Conditions, Signs and Symptoms |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3550903 |
BXGD019141 |
CORNELIA DE LANGE SYNDROME 5 |
|
| C3714581 |
BXGD019415 |
Multicystic Dysplastic Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3887496 |
BXGD019882 |
Oligodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4020740 |
BXGD020476 |
Clinodactyly of the 4th toe |
|
| C4023676 |
BXGD021237 |
Increased nuchal translucency |
Pathological Conditions, Signs and Symptoms |
| C4023731 |
BXGD021255 |
4-5 finger syndactyly |
|
| C4023915 |
BXGD021274 |
Abnormally low-pitched voice |
|
| C4025741 |
BXGD021770 |
Clinodactyly of the 5th toe |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4025871 |
BXGD021839 |
Abnormality of the face |
|
| C4048328 |
BXGD021903 |
cervical cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4284013 |
BXGD022428 |
Primary cholangiocarcinoma of intrahepatic biliary tract |
Neoplasms |
| C4317146 |
BXGD022730 |
Acid reflux |
|
| C4551560 |
BXGD023349 |
Truncal obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551851 |
BXGD023419 |
Cornelia de Lange Syndrome 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |