| C0001193 |
BXGD000030 |
Apert syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0001206 |
BXGD000033 |
Acromegaly |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007959 |
BXGD000507 |
Charcot-Marie-Tooth Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011311 |
BXGD000714 |
Dengue Fever |
Infections |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0019163 |
BXGD001295 |
Hepatitis B |
Digestive System Diseases; Infections |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020555 |
BXGD001431 |
Hypertrichosis |
Skin and Connective Tissue Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| 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 |
| 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 |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029294 |
BXGD002128 |
Orofaciodigital Syndromes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0031900 |
BXGD002313 |
Pierre Robin Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0032019 |
BXGD002321 |
Pituitary Neoplasms |
Neoplasms; Nervous System Diseases; Endocrine System Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0153392 |
BXGD003630 |
Malignant neoplasm of nasopharynx |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0221060 |
BXGD004384 |
Mobius Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0238301 |
BXGD004909 |
Cancer of Nasopharynx |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0238651 |
BXGD004951 |
Ankle clonus |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0240896 |
BXGD005059 |
Fundus coloboma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0265224 |
BXGD005472 |
Freeman-Sheldon syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265233 |
BXGD005474 |
Cryptophthalmos syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases |
| C0265240 |
BXGD005478 |
Goldenhar Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266544 |
BXGD005691 |
Microcornea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266667 |
BXGD005707 |
Cyclocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0423276 |
BXGD008477 |
Shallow anterior chamber of eye |
|
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0431659 |
BXGD008699 |
Hypoplasia of scrotum |
|
| C0432066 |
BXGD008717 |
Congenital malformation syndromes affecting facial appearance |
|
| C0442874 |
BXGD008814 |
Neuropathy |
Nervous System Diseases |
| C0522214 |
BXGD009196 |
Abnormal visual evoked potential |
Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0687154 |
BXGD009843 |
Acrocephalopolysyndactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0796037 |
BXGD010787 |
Martsolf syndrome |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0949804 |
BXGD011586 |
Polyomavirus Infections |
Infections |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1398312 |
BXGD012999 |
Narrow palate |
|
| C1512409 |
BXGD013188 |
Hepatocarcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1833219 |
BXGD013902 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837108 |
BXGD014199 |
Decreased muscle mass |
|
| C1838625 |
BXGD014327 |
Warburg Sjo Fledelius syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1840379 |
BXGD014459 |
Cerebellar vermis hypoplasia |
|
| C1842366 |
BXGD014512 |
Low anterior hairline |
|
| C1844527 |
BXGD014640 |
Clitoral hypoplasia |
|
| C1847514 |
BXGD014868 |
Postnatal microcephaly |
|
| C1849211 |
BXGD015023 |
Generalized hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1849295 |
BXGD015031 |
Hypoplastic labia minora |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854114 |
BXGD015383 |
Short nose |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1861866 |
BXGD016087 |
Aplasia/Hypoplasia of the corpus callosum |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1866195 |
BXGD016385 |
Downturned corners of mouth |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3280203 |
BXGD018812 |
WARBURG MICRO SYNDROME 3 |
|
| C3540764 |
BXGD019092 |
Coloboma of the Retina |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3810365 |
BXGD019652 |
Central visual impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4020968 |
BXGD020516 |
Abnormal localization of kidney |
|
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |