| C0002726 |
BXGD000125 |
Amyloidosis |
Nutritional and Metabolic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007939 |
BXGD000505 |
Syphilitic chancre |
Infections |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0011991 |
BXGD000766 |
Diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
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 |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018991 |
BXGD001264 |
Hemiplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0020620 |
BXGD001448 |
Hypohidrosis |
Skin and Connective Tissue Diseases |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037020 |
BXGD002659 |
Shyness |
Behavior and Behavior Mechanisms |
| C0039128 |
BXGD002794 |
Syphilis |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0041974 |
BXGD002945 |
Urethral Stenosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0080174 |
BXGD003106 |
Spina Bifida Occulta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0085636 |
BXGD003218 |
Photophobia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0238397 |
BXGD004923 |
Pulmonary artery stenosis |
Cardiovascular Diseases |
| C0242855 |
BXGD005198 |
Congenital atresia of pulmonary valve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0280790 |
BXGD006763 |
Adult Anaplastic Oligodendroglioma |
Neoplasms |
| C0334590 |
BXGD007129 |
Anaplastic Oligodendroglioma |
Neoplasms |
| C0348148 |
BXGD007867 |
Early syphilis, unspecified |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0349702 |
BXGD007951 |
Corneal Scar |
Eye Diseases; Nervous System Diseases; Wounds and Injuries |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0410174 |
BXGD008410 |
Fukuyama Type Congenital Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423250 |
BXGD008476 |
Corneal stromal opacities |
Eye Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0694550 |
BXGD009852 |
Recurrent pneumonia |
Infections; Respiratory Tract Diseases |
| C0751575 |
BXGD010507 |
Paralysis, Unilateral, Vocal Cord |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0796250 |
BXGD010826 |
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C0870082 |
BXGD011309 |
Hyperkeratosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332943 |
BXGD012559 |
Childhood Anaplastic Oligodendroglioma |
Neoplasms |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1836047 |
BXGD014074 |
Long face |
|
| C1845050 |
BXGD014703 |
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1854495 |
BXGD015410 |
Recurrent infection of the gastrointestinal tract |
|
| C1856121 |
BXGD015578 |
Broad eyebrow |
|
| C1857276 |
BXGD015688 |
Trichohepatoenteric Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases |
| C1862265 |
BXGD016119 |
Increased circulating gonadotropin level |
Nervous System Diseases; Endocrine System Diseases |
| C1867873 |
BXGD016473 |
Failure to thrive in infancy |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931317 |
BXGD018001 |
Primary syphilis |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital 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 |
| C3860213 |
BXGD019844 |
Autoinflammatory disorder |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4024836 |
BXGD021434 |
Generalized reticulate brown pigmentation |
|
| C4305072 |
BXGD022588 |
X-linked intellectual disability Van Esch type |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4553962 |
BXGD023553 |
Hyperkeratosis, CTCAE |
|