| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006287 |
BXGD000390 |
Bronchopulmonary Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0008810 |
BXGD000572 |
Circadian Rhythms |
|
| C0009241 |
BXGD000595 |
Cognition Disorders |
Mental Disorders |
| C0013132 |
BXGD000799 |
Drooling |
Stomatognathic Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0022735 |
BXGD001581 |
Klinefelter Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0025037 |
BXGD001822 |
Meckel Diverticulum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0034194 |
BXGD002472 |
Pyloric Stenosis |
Digestive System Diseases |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0040433 |
BXGD002865 |
Tooth Crowding |
Stomatognathic Diseases |
| C0042024 |
BXGD002949 |
Urinary Incontinence |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042900 |
BXGD003012 |
Vitiligo |
Skin and Connective Tissue Diseases |
| C0079731 |
BXGD003087 |
B-Cell Lymphomas |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0202117 |
BXGD004074 |
Low density lipoprotein cholesterol measurement |
|
| C0202236 |
BXGD004086 |
Triglycerides measurement |
|
| C0220766 |
BXGD004341 |
Congenital hypoplasia of adrenal gland |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0239174 |
BXGD004969 |
Late tooth eruption |
|
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0265252 |
BXGD005483 |
Coffin-Lowry syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0280100 |
BXGD006713 |
Solid Neoplasm |
Neoplasms |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0342482 |
BXGD007486 |
X-linked Adrenal Hypoplasia |
Endocrine System Diseases |
| C0346957 |
BXGD007836 |
Disseminated Malignant Neoplasm |
Neoplasms |
| C0392885 |
BXGD008071 |
High density lipoprotein measurement |
|
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0431447 |
BXGD008690 |
Synophrys |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432474 |
BXGD008793 |
Klinefelter's syndrome - male with more than two X chromosomes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0455829 |
BXGD008859 |
Waist Circumference |
|
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0795887 |
BXGD010758 |
Complex Glycerol Kinase Deficiency |
Endocrine System Diseases |
| C0796206 |
BXGD010812 |
Atkin syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0796225 |
BXGD010818 |
Mental Retardation, X-Linked 19 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0796241 |
BXGD010823 |
MENTAL RETARDATION, X-LINKED 34 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0809983 |
BXGD010840 |
Schizophrenia and related disorders |
Mental Disorders |
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C1136249 |
BXGD011715 |
Mental Retardation, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1168443 |
BXGD011794 |
Pseudocholinesterase Measurement |
|
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1737329 |
BXGD013728 |
Dysmorphism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1839767 |
BXGD014404 |
Tented upper lip vermilion |
|
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1846151 |
BXGD014787 |
Widened subarachnoid space |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1849340 |
BXGD015039 |
Long palpebral fissure |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1855496 |
BXGD015502 |
Contiguous gene syndrome |
|
| C1856117 |
BXGD015575 |
Uplifted earlobe |
|
| C1858036 |
BXGD015763 |
Periorbital fullness |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2931498 |
BXGD018030 |
Mental Retardation, X-Linked 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3550704 |
BXGD019137 |
Abnormality of digit |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3840214 |
BXGD019795 |
High-functioning autism |
Mental Disorders |
| C4021538 |
BXGD020660 |
Mild neurosensory hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C4021608 |
BXGD020695 |
Shortening of all distal phalanges of the fingers |
|
| C4021620 |
BXGD020699 |
Clinodactyly of the 2nd toe |
|
| C4024664 |
BXGD021362 |
Moderate sensorineural hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4551570 |
BXGD023357 |
2-3 toe syndactyly |
|
| C4706527 |
BXGD023699 |
Startle epilepsy |
Nervous System Diseases |