| C0005747 |
BXGD000332 |
Blepharospasm |
Eye Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0007133 |
BXGD000442 |
Carcinoma, Papillary |
Neoplasms |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008489 |
BXGD000546 |
Chorea |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013423 |
BXGD000838 |
Dystonia Musculorum Deformans |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0018798 |
BXGD001223 |
Congenital Heart Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023066 |
BXGD001605 |
Laryngospasm |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023798 |
BXGD001702 |
Lipoma |
Neoplasms |
| C0023882 |
BXGD001710 |
Little's Disease |
Nervous System Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract 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 |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0027849 |
BXGD002049 |
Neuroleptic Malignant Syndrome |
Nervous System Diseases; Chemically-Induced Disorders |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0032290 |
BXGD002345 |
Aspiration Pneumonia |
Infections; Respiratory Tract Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0151468 |
BXGD003424 |
Thyroid Gland Follicular Adenoma |
Neoplasms; Endocrine System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0154671 |
BXGD003726 |
Degenerative brain disorder |
Nervous System Diseases |
| C0162871 |
BXGD003996 |
Aortic Aneurysm, Abdominal |
Cardiovascular Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0205647 |
BXGD004099 |
Follicular adenoma |
Neoplasms |
| C0206682 |
BXGD004237 |
Follicular thyroid carcinoma |
Neoplasms |
| C0231688 |
BXGD004510 |
Gait, Shuffling |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0233565 |
BXGD004590 |
Bradykinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234379 |
BXGD004662 |
Resting Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0238461 |
BXGD004936 |
Anaplastic thyroid carcinoma |
Neoplasms |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239842 |
BXGD005001 |
Tremor of hands |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0240543 |
BXGD005042 |
Bulbous nose |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241442 |
BXGD005099 |
Protrusion of tongue |
|
| C0242422 |
BXGD005163 |
Parkinsonian Disorders |
Nervous System Diseases |
| C0266006 |
BXGD005603 |
Pili torti-deafness syndrome |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0267071 |
BXGD005730 |
Oropharyngeal Dysphagia |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0271441 |
BXGD006203 |
Chronic otitis media |
Otorhinolaryngologic Diseases |
| C0278883 |
BXGD006614 |
Metastatic melanoma |
Neoplasms |
| C0282160 |
BXGD006797 |
Aplasia Cutis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0338106 |
BXGD007167 |
Adenocarcinoma of colon |
Digestive System Diseases; Neoplasms |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0393593 |
BXGD008103 |
Dystonia Disorders |
Nervous System Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0426870 |
BXGD008592 |
Large hand |
|
| C0426980 |
BXGD008599 |
Motor symptoms |
|
| C0431447 |
BXGD008690 |
Synophrys |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0686347 |
BXGD009832 |
Tardive Dyskinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0751093 |
BXGD010317 |
Dystonia, Limb |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0752210 |
BXGD010697 |
Dyskinesias, Paroxysmal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0850703 |
BXGD010905 |
Frequent falls |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0856169 |
BXGD011096 |
Endothelial dysfunction |
|
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1319315 |
BXGD012415 |
Adenocarcinoma of large intestine |
Digestive System Diseases; Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1511789 |
BXGD013183 |
Desmoplastic |
|
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1836047 |
BXGD014074 |
Long face |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836696 |
BXGD014151 |
Lower limb hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1837732 |
BXGD014261 |
Thickened helices |
|
| C1839130 |
BXGD014358 |
Dystonia 3, Torsion, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1840379 |
BXGD014459 |
Cerebellar vermis hypoplasia |
|
| C1842060 |
BXGD014491 |
Prominent supraorbital ridges |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1843921 |
BXGD014620 |
Postural instability |
Nervous System Diseases |
| C1844505 |
BXGD014633 |
Pointed chin |
|
| C1844820 |
BXGD014681 |
Range of joint movement increased |
|
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1846868 |
BXGD014846 |
Parkinsonism with favorable response to dopaminergic medication |
Nervous System Diseases |
| C1850044 |
BXGD015099 |
Prominent protruding coccyx |
|
| C1851085 |
BXGD015191 |
Severe expressive language delay |
|
| C1851841 |
BXGD015242 |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1853487 |
BXGD015340 |
Thick eyebrow |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1855285 |
BXGD015483 |
Protruding ear |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859717 |
BXGD015924 |
Depressed nasal tip |
|
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1866934 |
BXGD016427 |
Reduced tendon reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1961099 |
BXGD016672 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1968942 |
BXGD016743 |
Abnormal sacral segmentation |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2751067 |
BXGD017690 |
Parkinsonism-Dystonia, Infantile |
Nervous System Diseases |
| C2986717 |
BXGD018241 |
Anti-N-Methyl-D-Aspartate Receptor Encephalitis |
Neoplasms; Immune System Diseases; Nervous System Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714760 |
BXGD019432 |
Drug-induced tardive dyskinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders |
| C3888090 |
BXGD019948 |
Early onset torsion dystonia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4021580 |
BXGD020682 |
Progressive extrapyramidal muscular rigidity |
|
| C4022490 |
BXGD020906 |
Prominent coccyx |
|
| C4023172 |
BXGD021135 |
Broad chin |
|
| C4024168 |
BXGD021296 |
Thickened ears |
|
| C4225418 |
BXGD022273 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 |
|
| C4477013 |
BXGD022904 |
Impaired oropharyngeal swallow response |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C4551676 |
BXGD023385 |
Laryngismus stridulus |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |