| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0003635 |
BXGD000214 |
Apraxias |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004106 |
BXGD000254 |
Astigmatism |
Eye Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005697 |
BXGD000324 |
Neurogenic Urinary Bladder |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases |
| C0005967 |
BXGD000357 |
Bone neoplasms |
Neoplasms; Musculoskeletal Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0015310 |
BXGD000976 |
Exotropia |
Eye Diseases; Nervous System Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0031900 |
BXGD002313 |
Pierre Robin Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0031903 |
BXGD002314 |
Pigeon Breeder's Lung |
Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases |
| C0034069 |
BXGD002458 |
Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C0037822 |
BXGD002706 |
Speech Disorders |
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 |
| C0042580 |
BXGD002992 |
Vesico-Ureteral Reflux |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0079924 |
BXGD003103 |
Oligohydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0220621 |
BXGD004300 |
Childhood Acute Myeloid Leukemia |
Neoplasms |
| C0221060 |
BXGD004384 |
Mobius Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases |
| C0221199 |
BXGD004403 |
Abnormal palmar creases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0234162 |
BXGD004627 |
Cerebellar Dysmetria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234860 |
BXGD004698 |
Weak cry |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0241726 |
BXGD005110 |
Delayed ability to walk |
|
| C0262361 |
BXGD005229 |
Growth abnormality |
|
| C0262655 |
BXGD005264 |
Recurrent urinary tract infection |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0266313 |
BXGD005650 |
Allanson Pantzar McLeod syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266617 |
BXGD005700 |
Congenital anomaly of face |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0269269 |
BXGD006058 |
Inversion of nipple (disorder) |
Skin and Connective Tissue Diseases |
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0278883 |
BXGD006614 |
Metastatic melanoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0332615 |
BXGD006898 |
Myopathic facies |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0431447 |
BXGD008690 |
Synophrys |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454641 |
BXGD008848 |
Expressive language delay |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0494463 |
BXGD009029 |
Alzheimer Disease, Late Onset |
Nervous System Diseases; Mental Disorders |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0566899 |
BXGD009494 |
Small labia majora |
|
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0856863 |
BXGD011122 |
Broad-based gait |
|
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1512419 |
BXGD013189 |
Hereditary Melanoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1697450 |
BXGD013506 |
obsolete Prominent epicanthal folds |
|
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836047 |
BXGD014074 |
Long face |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837249 |
BXGD014210 |
Malformations of Cortical Development, Group II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837522 |
BXGD014244 |
Impaired pain sensation |
|
| C1837731 |
BXGD014260 |
Overfolded helix |
|
| C1839797 |
BXGD014409 |
Deep philtrum |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1844820 |
BXGD014681 |
Range of joint movement increased |
|
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1849025 |
BXGD014997 |
Oval face |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1855333 |
BXGD015489 |
External genital hypoplasia |
|
| C1855676 |
BXGD015528 |
Aplasia/Hypoplasia of the cerebellar vermis |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1865304 |
BXGD016309 |
Overfolding of the superior helices |
|
| C1866195 |
BXGD016385 |
Downturned corners of mouth |
|
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3277019 |
BXGD018698 |
Horizontal eyebrow |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3472614 |
BXGD018922 |
Plasmablastic lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C3697248 |
BXGD019355 |
Short lower third of face |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4012968 |
BXGD020124 |
Mild global developmental delay |
|
| C4023172 |
BXGD021135 |
Broad chin |
|
| C4025865 |
BXGD021835 |
Abnormality of facial musculature |
|
| C4310618 |
BXGD022600 |
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME |
|
| C4551492 |
BXGD023317 |
Micropenis |
|