| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0004045 |
BXGD000249 |
Asphyxia Neonatorum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004106 |
BXGD000254 |
Astigmatism |
Eye Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006325 |
BXGD000393 |
Bruxism |
Stomatognathic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009676 |
BXGD000619 |
Confusion |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010034 |
BXGD000640 |
Corneal Diseases |
Eye Diseases |
| C0010200 |
BXGD000653 |
Coughing |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011615 |
BXGD000738 |
Dermatitis, Atopic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases |
| C0013144 |
BXGD000800 |
Drowsiness |
Mental Disorders |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0018798 |
BXGD001223 |
Congenital Heart Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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 |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020458 |
BXGD001393 |
Hyperhidrosis disorder |
Skin and Connective Tissue Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020580 |
BXGD001435 |
Hypesthesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic 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 |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0151818 |
BXGD003480 |
Opisthotonus |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0162316 |
BXGD003936 |
Iron deficiency anemia |
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0231274 |
BXGD004490 |
Intolerant of heat |
|
| C0231471 |
BXGD004494 |
Abnormal posture |
Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0234853 |
BXGD004697 |
Facial grimacing |
|
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239815 |
BXGD004996 |
Hand clenching |
|
| C0239998 |
BXGD005012 |
Recurrent infections |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases |
| C0241726 |
BXGD005110 |
Delayed ability to walk |
|
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266449 |
BXGD005670 |
Congenital anomaly of brain |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases |
| C0272386 |
BXGD006361 |
Hypertrophy of tonsils |
Pathological Conditions, Signs and Symptoms |
| C0338502 |
BXGD007192 |
Hypoplasia of the optic nerve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0410264 |
BXGD008423 |
Contracture of tendo achilles |
|
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0423798 |
BXGD008510 |
Increased tendency to bruise |
Wounds and Injuries |
| C0423808 |
BXGD008512 |
Brachyonychia |
|
| C0426886 |
BXGD008594 |
Tapering fingers (finding) |
|
| C0427086 |
BXGD008605 |
Involuntary Movements |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0476217 |
BXGD008980 |
Head movements abnormal |
Nervous System Diseases |
| C0497202 |
BXGD009055 |
Abnormal ocular motility |
|
| C0544008 |
BXGD009306 |
Chandler syndrome |
Eye Diseases |
| C0549629 |
BXGD009393 |
Abnormal delivery |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0558165 |
BXGD009449 |
Curly hair (finding) |
|
| C0563243 |
BXGD009479 |
Poor coordination |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0575802 |
BXGD009521 |
Small hand |
|
| C0578531 |
BXGD009548 |
Skin dimple |
|
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0740852 |
BXGD010011 |
Upper airway obstruction |
|
| C0741916 |
BXGD010044 |
Cardiac defects |
|
| C0751093 |
BXGD010317 |
Dystonia, Limb |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0850703 |
BXGD010905 |
Frequent falls |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C1264195 |
BXGD011913 |
Refractory anemia with ringed sideroblasts |
Hemic and Lymphatic Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1562689 |
BXGD013376 |
Congenital hereditary endothelial dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1832160 |
BXGD013803 |
Abnormality of temperature regulation |
|
| C1835807 |
BXGD014051 |
Prominent fingertip pads |
|
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1849075 |
BXGD015002 |
Relative macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850048 |
BXGD015100 |
Absent proximal finger flexion creases |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853241 |
BXGD015321 |
Flat face |
|
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1855650 |
BXGD015521 |
Birth length less than 3rd percentile |
|
| C1856644 |
BXGD015625 |
Absent/hypoplastic coccyx |
|
| C1857569 |
BXGD015717 |
CORNEAL ENDOTHELIAL DYSTROPHY 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1857572 |
BXGD015718 |
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858565 |
BXGD015807 |
Duplicated collecting system |
|
| C1860247 |
BXGD015973 |
Prominent glabella |
|
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1865304 |
BXGD016309 |
Overfolding of the superior helices |
|
| C1868571 |
BXGD016508 |
Highly arched eyebrow |
|
| C1956257 |
BXGD016623 |
Pulmonary Stenosis |
Cardiovascular Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C2751480 |
BXGD017716 |
Hypoplastic coccygeal vertebrae |
|
| C2826330 |
BXGD017791 |
Refractory anemia with ring sideroblasts associated with marked thrombocytosis |
Hemic and Lymphatic Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806467 |
BXGD019513 |
Respiratory insufficiency due to muscle weakness |
Respiratory Tract Diseases |
| C3808403 |
BXGD019546 |
Large fleshy ears |
|
| C3809827 |
BXGD019614 |
Staring gaze |
|
| C4021161 |
BXGD020568 |
Multiple suture craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4022490 |
BXGD020906 |
Prominent coccyx |
|
| C4022735 |
BXGD020971 |
Cerebral white matter atrophy |
Pathological Conditions, Signs and Symptoms |
| C4023342 |
BXGD021158 |
Gastrostomy tube feeding in infancy |
|
| C4024946 |
BXGD021493 |
Focal white matter lesions |
Pathological Conditions, Signs and Symptoms |
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4072903 |
BXGD022020 |
Primary Caesarian section |
|
| C4281993 |
BXGD022418 |
Neonatal respiratory distress |
Respiratory Tract Diseases |
| C4479246 |
BXGD022928 |
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER |
|
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |