| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014772 |
BXGD000948 |
Red Blood Cell Count measurement |
|
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027022 |
BXGD001962 |
Myeloproliferative disease |
Hemic and Lymphatic Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0031269 |
BXGD002297 |
Peutz-Jeghers Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0205833 |
BXGD004130 |
Medullomyoblastoma |
Neoplasms |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0240309 |
BXGD005029 |
Hyperplasia of midface |
|
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0376532 |
BXGD008000 |
Epilepsy, Rolandic |
Nervous System Diseases |
| C0489786 |
BXGD009018 |
Height |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0751291 |
BXGD010379 |
Desmoplastic Medulloblastoma |
Neoplasms |
| C1096063 |
BXGD011600 |
Drug Resistant Epilepsy |
Nervous System Diseases |
| C1275668 |
BXGD012090 |
Melanotic medulloblastoma |
Neoplasms |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1836047 |
BXGD014074 |
Long face |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1839783 |
BXGD014407 |
Large forehead |
|
| C1845251 |
BXGD014734 |
Facial hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1846423 |
BXGD014812 |
Thick upper lip vermilion |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850573 |
BXGD015154 |
Slender build |
Pathological Conditions, Signs and Symptoms |
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854919 |
BXGD015442 |
Severe psychomotor retardation |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1970203 |
BXGD016821 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3887640 |
BXGD019908 |
Astrocytosis |
Pathological Conditions, Signs and Symptoms |
| C4505072 |
BXGD022953 |
Epileptic Syndromes |
Nervous System Diseases |