| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006413 |
BXGD000397 |
Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007113 |
BXGD000430 |
Rectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0007130 |
BXGD000440 |
Mucinous Adenocarcinoma |
Neoplasms |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic 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 |
| C0010823 |
BXGD000690 |
Cytomegalovirus Infections |
Infections |
| C0013080 |
BXGD000797 |
Down Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014390 |
BXGD000913 |
Entropion |
Eye 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 |
| C0016059 |
BXGD001043 |
Fibrosis |
Pathological Conditions, Signs and Symptoms |
| C0018777 |
BXGD001217 |
Conductive hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0019322 |
BXGD001317 |
Umbilical hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0023787 |
BXGD001698 |
Lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0023890 |
BXGD001713 |
Liver Cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System 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 |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0030297 |
BXGD002204 |
Pancreatic Neoplasm |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039538 |
BXGD002819 |
Teratoma |
Neoplasms |
| C0149782 |
BXGD003365 |
Squamous cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0151514 |
BXGD003429 |
Atrophic condition of skin |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0153381 |
BXGD003626 |
Malignant neoplasm of mouth |
Neoplasms; Stomatognathic Diseases |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206708 |
BXGD004256 |
Cervical Intraepithelial Neoplasia |
Neoplasms |
| C0220641 |
BXGD004305 |
Lip and Oral Cavity Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0238441 |
BXGD004932 |
Subglottic stenosis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240310 |
BXGD005030 |
Hypoplasia of the maxilla |
|
| 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 |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0271561 |
BXGD006213 |
Somatotropin deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0278764 |
BXGD006581 |
Adult Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0278879 |
BXGD006610 |
Childhood Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0280324 |
BXGD006740 |
Laryngeal Squamous Cell Carcinoma |
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0342573 |
BXGD007508 |
PITUITARY DWARFISM I |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0395837 |
BXGD008169 |
Stenosis of external auditory canal |
|
| C0403823 |
BXGD008315 |
Asthenozoospermia |
Male Urogenital Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0432040 |
BXGD008715 |
Simple syndactyly of toes, first web space |
|
| C0432103 |
BXGD008722 |
Submucous cleft of hard palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0566899 |
BXGD009494 |
Small labia majora |
|
| C0575802 |
BXGD009521 |
Small hand |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0685776 |
BXGD009816 |
Congenital absence of mandible |
|
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| 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 |
| C0853879 |
BXGD010982 |
Invasive carcinoma of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0948187 |
BXGD011513 |
Tracheomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases |
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1184923 |
BXGD011800 |
Lumbar hyperlordosis |
Musculoskeletal Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1292778 |
BXGD012237 |
Chronic myeloproliferative disorder |
Neoplasms; Hemic and Lymphatic Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1328407 |
BXGD012465 |
Hip Dysplasia |
Musculoskeletal Diseases; Wounds and Injuries |
| C1368898 |
BXGD012904 |
Adult Teratoma |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1386048 |
BXGD012950 |
Intrauterine retardation |
|
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1608408 |
BXGD013434 |
Malignant transformation |
|
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1833144 |
BXGD013898 |
Slender long bone |
|
| C1834055 |
BXGD013953 |
Underdeveloped nasal alae |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1839546 |
BXGD014385 |
Microretrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1840069 |
BXGD014433 |
Sandal gap |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842083 |
BXGD014494 |
Abnormality of the ribs |
|
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1844527 |
BXGD014640 |
Clitoral hypoplasia |
|
| C1846950 |
BXGD014848 |
Short middle phalanx of finger |
|
| C1849295 |
BXGD015031 |
Hypoplastic labia minora |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1855514 |
BXGD015505 |
Severe failure to thrive |
|
| C1857641 |
BXGD015727 |
Severe postnatal growth retardation |
|
| C1857665 |
BXGD015734 |
Aplastic clavicle |
|
| C1858539 |
BXGD015803 |
Shawl scrotum |
|
| C1859455 |
BXGD015893 |
Small anterior fontanelle |
|
| 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 |
| C1969653 |
BXGD016787 |
MUNGAN SYNDROME |
Digestive System Diseases; Neoplasms |
| 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 |
| C2347762 |
BXGD017050 |
Childhood Teratoma |
Neoplasms |
| C2749675 |
BXGD017631 |
Cortical gyral simplification |
|
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C2981150 |
BXGD018211 |
Uranostaphyloschisis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3697776 |
BXGD019360 |
Proliferative verrucous oral leukoplakia |
Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714796 |
BXGD019434 |
Isolated somatotropin deficiency |
|
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C3839280 |
BXGD019772 |
High grade serous carcinoma |
|
| C4012968 |
BXGD020124 |
Mild global developmental delay |
|
| C4021174 |
BXGD020575 |
Microtia, third degree |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4021985 |
BXGD020857 |
Germ cell neoplasia |
|
| C4022715 |
BXGD020967 |
Hypoplastic female external genitalia |
|
| C4023343 |
BXGD021159 |
Nasogastric tube feeding in infancy |
|
| C4025406 |
BXGD021659 |
Abnormality of the middle phalanx of the 5th finger |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4225188 |
BXGD022172 |
MEIER-GORLIN SYNDROME 6 |
|
| C4521042 |
BXGD023055 |
Complete Trisomy 21 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4551488 |
BXGD023314 |
Bifid uvula |
|
| C4721414 |
BXGD023738 |
Mantle cell lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |