| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0002418 |
BXGD000112 |
Amblyopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0002793 |
BXGD000130 |
Anaplasia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0003962 |
BXGD000244 |
Ascites |
Pathological Conditions, Signs and Symptoms |
| C0004114 |
BXGD000255 |
Astrocytoma |
Neoplasms |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006111 |
BXGD000369 |
Brain Diseases |
Nervous System Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0008479 |
BXGD000544 |
Chondrosarcoma |
Neoplasms |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0013080 |
BXGD000797 |
Down Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013363 |
BXGD000818 |
Dysautonomia |
Nervous System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014474 |
BXGD000917 |
Ependymoma |
Neoplasms |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014556 |
BXGD000932 |
Epilepsy, Temporal Lobe |
Nervous System Diseases |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0015310 |
BXGD000976 |
Exotropia |
Eye Diseases; Nervous System Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018498 |
BXGD001195 |
Hair Color |
|
| C0019825 |
BXGD001349 |
Hoarseness |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020258 |
BXGD001371 |
Hydrocephalus, Normal Pressure |
Nervous System Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0022735 |
BXGD001581 |
Klinefelter Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0023051 |
BXGD001602 |
Laryngeal Diseases |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0023882 |
BXGD001710 |
Little's Disease |
Nervous System Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
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 |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| 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 |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028850 |
BXGD002092 |
Ocular Motility Disorders |
Eye Diseases; Nervous System Diseases |
| C0028945 |
BXGD002099 |
oligodendroglioma |
Neoplasms |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030186 |
BXGD002190 |
Paget Disease Extramammary |
Neoplasms |
| C0031117 |
BXGD002285 |
Peripheral Neuropathy |
Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038271 |
BXGD002742 |
Stereotyped Behavior |
Behavior and Behavior Mechanisms |
| C0038273 |
BXGD002743 |
Stereotypic Movement Disorder |
Mental Disorders |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040485 |
BXGD002871 |
Torticollis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042928 |
BXGD003014 |
Vocal Cord Paralysis |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085633 |
BXGD003216 |
Mood swings |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0086692 |
BXGD003306 |
Benign Neoplasm |
Neoplasms |
| C0150080 |
BXGD003402 |
Social Communication Disorder |
Mental Disorders |
| C0151779 |
BXGD003473 |
Cutaneous Melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0152221 |
BXGD003561 |
Paralytic strabismus |
Eye Diseases; Nervous System Diseases |
| C0153382 |
BXGD003627 |
Malignant neoplasm of oropharynx |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0158465 |
BXGD003887 |
Acquired cubitus valgus |
|
| C0162292 |
BXGD003930 |
External Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0162809 |
BXGD003981 |
Kallmann Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0205969 |
BXGD004143 |
Thymic Carcinoma |
Neoplasms; Hemic and Lymphatic Diseases |
| C0206658 |
BXGD004221 |
Smooth Muscle Tumor |
Neoplasms |
| C0206663 |
BXGD004225 |
Neuroectodermal Tumor, Primitive |
Neoplasms |
| C0206701 |
BXGD004251 |
Cystadenocarcinoma, Serous |
Neoplasms |
| C0220650 |
BXGD004310 |
Metastatic malignant neoplasm to brain |
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases |
| C0221060 |
BXGD004384 |
Mobius Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0234175 |
BXGD004630 |
Palmar reflex |
|
| C0234435 |
BXGD004667 |
Syncope, Tussive |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234649 |
BXGD004692 |
Abnormal saccadic eye movement |
|
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0236642 |
BXGD004815 |
Pick Disease of the Brain |
Nervous System Diseases; Mental Disorders |
| C0239043 |
BXGD004960 |
Difficulty chewing |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0262630 |
BXGD005262 |
Reduced concentration span |
Behavior and Behavior Mechanisms |
| C0265529 |
BXGD005542 |
Plagiocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266449 |
BXGD005670 |
Congenital anomaly of brain |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases |
| C0266463 |
BXGD005675 |
Lissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0266617 |
BXGD005700 |
Congenital anomaly of face |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0271270 |
BXGD006178 |
Oculovestibuloauditory syndrome |
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0271682 |
BXGD006233 |
Mixed sensory-motor polyneuropathy |
Nervous System Diseases |
| C0276289 |
BXGD006418 |
Zika Virus Infection |
Infections |
| C0278488 |
BXGD006515 |
Carcinoma breast stage IV |
|
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278874 |
BXGD006605 |
Adult Ependymoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0279628 |
BXGD006659 |
Adenocarcinoma Of Esophagus |
Digestive System Diseases; Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0280100 |
BXGD006713 |
Solid Neoplasm |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0281361 |
BXGD006774 |
Adenocarcinoma of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0302142 |
BXGD006831 |
Deformity |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0338502 |
BXGD007192 |
Hypoplasia of the optic nerve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| 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 |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0346975 |
BXGD007837 |
Secondary malignant neoplasm of rectum |
Digestive System Diseases; Neoplasms |
| C0376175 |
BXGD007981 |
Bell Palsy |
Infections; Nervous System Diseases; Stomatognathic Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0393593 |
BXGD008103 |
Dystonia Disorders |
Nervous System Diseases |
| C0393907 |
BXGD008154 |
Axonal sensorimotor neuropathy |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0431368 |
BXGD008673 |
Partial agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431376 |
BXGD008678 |
Cobblestone Lissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431380 |
BXGD008680 |
Cortical Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0452138 |
BXGD008831 |
Sensorineural hearing loss, bilateral |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0454641 |
BXGD008848 |
Expressive language delay |
|
| C0494165 |
BXGD009022 |
Secondary malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0575802 |
BXGD009521 |
Small hand |
|
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0576226 |
BXGD009527 |
Short foot |
|
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0677886 |
BXGD009734 |
Epithelial ovarian cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0677936 |
BXGD009737 |
Refractory cancer |
Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0684337 |
BXGD009796 |
Ewings sarcoma-primitive neuroectodermal tumor (PNET) |
Neoplasms |
| C0685938 |
BXGD009829 |
Malignant neoplasm of gastrointestinal tract |
Digestive System Diseases; Neoplasms |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0751396 |
BXGD010425 |
Well Differentiated Oligodendroglioma |
Neoplasms |
| C0796611 |
BXGD010835 |
Newly Diagnosed Childhood Ependymoma |
Neoplasms |
| C0861772 |
BXGD011252 |
Stage IV Rectal Carcinoma |
|
| C0917801 |
BXGD011412 |
Sleeplessness |
Nervous System Diseases; Mental Disorders |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1257931 |
BXGD011815 |
Mammary Neoplasms, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C1261473 |
BXGD011855 |
Sarcoma |
Neoplasms |
| C1263857 |
BXGD011900 |
Peripheral axonal neuropathy |
Nervous System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1275278 |
BXGD012074 |
Extraskeletal Myxoid Chondrosarcoma |
Neoplasms |
| C1302995 |
BXGD012316 |
Congenital Fibrosis of the Extraocular Muscles |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1334953 |
BXGD012746 |
Neuroblastic tumors |
Neoplasms |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1511789 |
BXGD013183 |
Desmoplastic |
|
| C1514428 |
BXGD013203 |
Primary peritoneal carcinoma |
Digestive System Diseases; Neoplasms |
| C1527344 |
BXGD013275 |
Dysphonia |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1608408 |
BXGD013434 |
Malignant transformation |
|
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1636149 |
BXGD013482 |
Macular dystrophy, corneal type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1706731 |
BXGD013576 |
Adult Extraskeletal Myxoid Chondrosarcoma |
Neoplasms |
| C1836217 |
BXGD014097 |
Tukel syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1837249 |
BXGD014210 |
Malformations of Cortical Development, Group II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1837402 |
BXGD014228 |
Flat occiput |
|
| C1840379 |
BXGD014459 |
Cerebellar vermis hypoplasia |
|
| C1842688 |
BXGD014532 |
Hypoplasia of the brainstem |
|
| C1846911 |
BXGD014847 |
Compensatory chin elevation |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1849156 |
BXGD015017 |
Spastic Ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1849265 |
BXGD015028 |
Overgrowth |
|
| C1851087 |
BXGD015192 |
Agenesis of the anterior commissure |
|
| C1851102 |
BXGD015195 |
Fibrosis Of Extraocular Muscles, Congenital, 1 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C1851107 |
BXGD015196 |
Levator palpebrae superioris atrophy |
|
| C1851108 |
BXGD015197 |
Superior rectus atrophy |
|
| C1851584 |
BXGD015221 |
Childhood Ependymoma |
Neoplasms |
| C1851710 |
BXGD015226 |
LATERAL MENINGOCELE SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1856409 |
BXGD015604 |
Dilation of lateral ventricles |
|
| C1857790 |
BXGD015748 |
Thoracic scoliosis |
Musculoskeletal Diseases |
| C1859470 |
BXGD015896 |
Large basal ganglia |
|
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1863753 |
BXGD016197 |
LIMB-MAMMARY SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1865915 |
BXGD016354 |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C1865916 |
BXGD016355 |
Bilateral ptosis |
Eye Diseases |
| C1955869 |
BXGD016612 |
Malformations of Cortical Development |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1963946 |
BXGD016707 |
Laryngeal dystonia |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1997740 |
BXGD016863 |
Segmental dystonia |
Nervous System Diseases |
| C2349952 |
BXGD017065 |
Oropharyngeal Carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2677180 |
BXGD017366 |
Congenital microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C2748801 |
BXGD017605 |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C2749675 |
BXGD017631 |
Cortical gyral simplification |
|
| C2750404 |
BXGD017658 |
Fibrosis of Extraocular Muscles, Congenital, 3C |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C2750737 |
BXGD017675 |
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases |
| C2751105 |
BXGD017692 |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3489733 |
BXGD018945 |
Oculomotor apraxia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases |
| C3665346 |
BXGD019278 |
Unspecified visual loss |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3665386 |
BXGD019284 |
Abnormal vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806604 |
BXGD019520 |
Infantile axial hypotonia |
|
| C3808397 |
BXGD019545 |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 |
|
| C4015552 |
BXGD020212 |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 |
|
| C4021243 |
BXGD020593 |
Abnormality of thalamus morphology |
|
| C4022769 |
BXGD020994 |
Small basal ganglia |
|
| C4022906 |
BXGD021033 |
Delayed social development |
|
| C4023681 |
BXGD021239 |
Delayed fine motor development |
|
| C4024789 |
BXGD021418 |
Nonprogressive restrictive external ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4049830 |
BXGD021953 |
Focal seizures, afebril |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4073008 |
BXGD022033 |
Abnormal best corrected visual acuity test |
|
| C4082169 |
BXGD022084 |
Metatarsus Varus |
Musculoskeletal Diseases |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4317109 |
BXGD022725 |
Epileptic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4476591 |
BXGD022835 |
Dysgenesis of the hippocampus |
|
| C4476710 |
BXGD022851 |
Delayed ability to sit |
|
| C4477049 |
BXGD022910 |
Hypoplasia of the olfactory bulb |
|
| C4521042 |
BXGD023055 |
Complete Trisomy 21 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4551686 |
BXGD023391 |
Malignant neoplasm of soft tissue |
Neoplasms |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4704874 |
BXGD023682 |
Mammary Carcinoma, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C4721208 |
BXGD023733 |
Metastatic castration-resistant prostate cancer |
|
| C4721414 |
BXGD023738 |
Mantle cell lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4722419 |
BXGD023802 |
Extrapulmonary Small Cell Carcinoma |
Neoplasms |