| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0003706 |
BXGD000215 |
Arachnodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C0017658 |
BXGD001138 |
Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| 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 |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026034 |
BXGD001887 |
Microstomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027726 |
BXGD002030 |
Nephrotic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0079924 |
BXGD003103 |
Oligohydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0178664 |
BXGD004032 |
Glomerulosclerosis (disorder) |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239981 |
BXGD005011 |
Hypoalbuminemia |
Hemic and Lymphatic Diseases |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0268747 |
BXGD006034 |
Diffuse mesangial sclerosis (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0375206 |
BXGD007973 |
Hemiplegia/hemiparesis |
|
| C0403397 |
BXGD008277 |
Steroid-resistant nephrotic syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0424711 |
BXGD008541 |
Orbital separation diminished |
|
| C0431350 |
BXGD008668 |
Primary microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0795949 |
BXGD010768 |
Galloway Mowat syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1704380 |
BXGD013555 |
Distal Renal Tubular Acidosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1737329 |
BXGD013728 |
Dysmorphism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1855433 |
BXGD015496 |
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases |
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1862322 |
BXGD016123 |
Ovalocytosis, Malaysian-Melanesian-Filipino Type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1864498 |
BXGD016233 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2607914 |
BXGD017148 |
Allergic rhinitis (disorder) |
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases |
| C2749675 |
BXGD017631 |
Cortical gyral simplification |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2936786 |
BXGD018137 |
Aqueductal Stenosis |
Nervous System Diseases |
| C3266102 |
BXGD018597 |
Steroid resistant nephrotic syndrome of childhood |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3489393 |
BXGD018928 |
Hiatal Hernia |
Pathological Conditions, Signs and Symptoms |
| C3554617 |
BXGD019228 |
Adducted thumb |
Musculoskeletal Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021986 |
BXGD020858 |
Hypoplasia of the ear cartilage |
|
| C4023616 |
BXGD021229 |
Abnormality of immune system physiology |
|
| C4025249 |
BXGD021604 |
Abnormality of the intervertebral disk |
|
| C4540266 |
BXGD023249 |
GALLOWAY-MOWAT SYNDROME 3 |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|