| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004610 |
BXGD000281 |
Bacteremia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0008297 |
BXGD000522 |
Choanal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0008924 |
BXGD000574 |
Cleft upper lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009363 |
BXGD000599 |
Congenital ocular coloboma (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011848 |
BXGD000750 |
Diabetes Insipidus |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye 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 |
| C0018916 |
BXGD001245 |
Hemangioma |
Neoplasms |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0020635 |
BXGD001455 |
Hypopituitarism |
Nervous System Diseases; Endocrine System Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022521 |
BXGD001549 |
Kartagener Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037221 |
BXGD002673 |
Situs Inversus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039685 |
BXGD002825 |
Tetralogy of Fallot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0079541 |
BXGD003081 |
Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0085207 |
BXGD003140 |
Gestational Diabetes |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0232939 |
BXGD004568 |
Primary physiologic amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0238198 |
BXGD004893 |
Gastrointestinal Stromal Tumors |
Digestive System Diseases; Neoplasms |
| C0240063 |
BXGD005015 |
Coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0242343 |
BXGD005153 |
Panhypopituitarism |
Nervous System Diseases; Endocrine System Diseases |
| C0265535 |
BXGD005544 |
Trigonocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266174 |
BXGD005626 |
Duodenal atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266551 |
BXGD005693 |
Congenital coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266631 |
BXGD005703 |
Accessory spleen |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0266667 |
BXGD005707 |
Cyclocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0338503 |
BXGD007193 |
Septo-Optic Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0424711 |
BXGD008541 |
Orbital separation diminished |
|
| C0431362 |
BXGD008670 |
Lobar Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0431363 |
BXGD008671 |
Alobar Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0431447 |
BXGD008690 |
Synophrys |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0432122 |
BXGD008723 |
Interfrontal craniofaciosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0751617 |
BXGD010525 |
Semilobar Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306726 |
BXGD012373 |
Congenital naevus |
|
| C1399793 |
BXGD013007 |
skin fold (abnormality) |
|
| C1609433 |
BXGD013438 |
Congenital absence of kidneys syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1839767 |
BXGD014404 |
Tented upper lip vermilion |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1840235 |
BXGD014436 |
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C1840238 |
BXGD014437 |
Midnasal stenosis |
|
| C1846223 |
BXGD014792 |
Adrenal hypoplasia |
|
| C1853237 |
BXGD015319 |
Isolated cases |
|
| C1853487 |
BXGD015340 |
Thick eyebrow |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1856659 |
BXGD015628 |
Polysplenia |
|
| C1858430 |
BXGD015792 |
Death in infancy |
|
| C1860819 |
BXGD016002 |
Metopic synostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1866649 |
BXGD016412 |
Steinfeld Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3179349 |
BXGD018550 |
Gastrointestinal Stromal Sarcoma |
Digestive System Diseases; Neoplasms |
| C3279571 |
BXGD018763 |
Ectopic posterior pituitary |
|
| C3280215 |
BXGD018813 |
HOLOPROSENCEPHALY 11 |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021085 |
BXGD020544 |
Abnormality of brain morphology |
|
| C4021726 |
BXGD020735 |
EMG: myopathic abnormalities |
Musculoskeletal Diseases; Nervous System Diseases |
| C4053775 |
BXGD021970 |
Pituitary stalk interruption syndrome |
Pathological Conditions, Signs and Symptoms |
| C4551564 |
BXGD023352 |
Narrow nasal bridge |
|
| C4551720 |
BXGD023400 |
Primary Ciliary Dyskinesia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |