| C0001824 |
BXGD000081 |
Agranulocytosis |
Hemic and Lymphatic Diseases |
| C0002886 |
BXGD000144 |
Anemia, Macrocytic |
Hemic and Lymphatic Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0018564 |
BXGD001204 |
Hand deformities |
Musculoskeletal Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0030232 |
BXGD002197 |
Pallor |
Pathological Conditions, Signs and Symptoms |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0043094 |
BXGD003026 |
Weight Gain |
Pathological Conditions, Signs and Symptoms |
| C0085669 |
BXGD003233 |
Acute leukemia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0155552 |
BXGD003801 |
Hearing Loss, Mixed Conductive-Sensorineural |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0744356 |
BXGD010094 |
Abnormality of the genital system |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1260899 |
BXGD011841 |
Anemia, Diamond-Blackfan |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853638 |
BXGD015349 |
Broad neck |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931245 |
BXGD017986 |
Bone Marrow failure syndromes |
|
| C2931850 |
BXGD018078 |
Aase Smith syndrome 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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 |
| C4225411 |
BXGD022267 |
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS |
|
| C4228778 |
BXGD022292 |
Abnormality of radial ray |
|
| C4282407 |
BXGD022423 |
Sparse and thin eyebrow |
|