| C0003868 |
BXGD000233 |
Arthritis, Gouty |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0009447 |
BXGD000613 |
Common Variable Immunodeficiency |
Immune System Diseases |
| C0010278 |
BXGD000660 |
Craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014588 |
BXGD000937 |
Epispadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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 |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017654 |
BXGD001136 |
Glomerular Filtration Rate |
|
| C0018099 |
BXGD001172 |
Gout |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0024305 |
BXGD001763 |
Lymphoma, Non-Hodgkin |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024314 |
BXGD001767 |
Lymphoproliferative Disorders |
Immune System Diseases; Hemic and Lymphatic 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 |
| C0026034 |
BXGD001887 |
Microstomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0034067 |
BXGD002456 |
Pulmonary Emphysema |
Respiratory Tract Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0202239 |
BXGD004087 |
Uric acid measurement (procedure) |
|
| C0220605 |
BXGD004294 |
Adult Non-Hodgkin Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0220612 |
BXGD004296 |
Childhood Non-Hodgkin Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240310 |
BXGD005030 |
Hypoplasia of the maxilla |
|
| C0241703 |
BXGD005109 |
High pitched voice |
|
| C0264353 |
BXGD005382 |
Bronchomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases |
| C0265202 |
BXGD005461 |
Seckel syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0266009 |
BXGD005604 |
Congenital absence of breast |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266013 |
BXGD005606 |
Congenital hypoplasia of breast |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0432103 |
BXGD008722 |
Submucous cleft of hard palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0432470 |
BXGD008792 |
46, XY female |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0566899 |
BXGD009494 |
Small labia majora |
|
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0685776 |
BXGD009816 |
Congenital absence of mandible |
|
| C0702139 |
BXGD009909 |
Congenital absence of external ear |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0948187 |
BXGD011513 |
Tracheomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases |
| C1142533 |
BXGD011758 |
Smooth philtrum |
|
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1292778 |
BXGD012237 |
Chronic myeloproliferative disorder |
Neoplasms; Hemic and Lymphatic Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1833144 |
BXGD013898 |
Slender long bone |
|
| C1834055 |
BXGD013953 |
Underdeveloped nasal alae |
|
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1842083 |
BXGD014494 |
Abnormality of the ribs |
|
| C1844527 |
BXGD014640 |
Clitoral hypoplasia |
|
| C1849295 |
BXGD015031 |
Hypoplastic labia minora |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1855650 |
BXGD015521 |
Birth length less than 3rd percentile |
|
| C1857665 |
BXGD015734 |
Aplastic clavicle |
|
| C1866190 |
BXGD016384 |
Atresia of the external auditory canal |
|
| C1868578 |
BXGD016510 |
Patellar aplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1868684 |
BXGD016527 |
EAR, PATELLA, SHORT STATURE SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3151097 |
BXGD018395 |
MEIER-GORLIN SYNDROME 2 |
|
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021174 |
BXGD020575 |
Microtia, third degree |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4551488 |
BXGD023314 |
Bifid uvula |
|
| C4721532 |
BXGD023752 |
Lymphoma, Non-Hodgkin, Familial |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |