| C0002448 |
BXGD000115 |
Ameloblastoma |
Neoplasms |
| C0002453 |
BXGD000117 |
Amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0003706 |
BXGD000215 |
Arachnodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004604 |
BXGD000278 |
Back Pain |
Pathological Conditions, Signs and Symptoms |
| C0004610 |
BXGD000281 |
Bacteremia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0004779 |
BXGD000291 |
Basal Cell Nevus Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0008297 |
BXGD000522 |
Choanal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0008924 |
BXGD000574 |
Cleft upper lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010964 |
BXGD000692 |
Dandy-Walker Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0011334 |
BXGD000716 |
Dental caries |
Stomatognathic Diseases |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013456 |
BXGD000843 |
Earache |
Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0014065 |
BXGD000884 |
Congenital cerebral hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0014772 |
BXGD000948 |
Red Blood Cell Count measurement |
|
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016045 |
BXGD001037 |
fibroma |
Neoplasms |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017654 |
BXGD001136 |
Glomerular Filtration Rate |
|
| C0018133 |
BXGD001176 |
Graft-vs-Host Disease |
Immune System Diseases |
| C0018552 |
BXGD001202 |
Hamartoma |
Neoplasms |
| C0018681 |
BXGD001214 |
Headache |
Pathological Conditions, Signs and Symptoms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018916 |
BXGD001245 |
Hemangioma |
Neoplasms |
| C0018989 |
BXGD001263 |
Hemiparesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0019569 |
BXGD001337 |
Hirschsprung Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0021167 |
BXGD001487 |
Incontinence |
Nervous System Diseases |
| C0021390 |
BXGD001503 |
Inflammatory Bowel Diseases |
Digestive System Diseases |
| C0023508 |
BXGD001675 |
White Blood Cell Count procedure |
|
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025286 |
BXGD001850 |
Meningioma |
Neoplasms; Nervous System Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0027498 |
BXGD001994 |
Nausea and vomiting |
Pathological Conditions, Signs and Symptoms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027794 |
BXGD002036 |
Neural Tube Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0027830 |
BXGD002046 |
neurofibroma |
Neoplasms; Nervous System Diseases |
| C0027962 |
BXGD002064 |
Melanocytic nevus |
Neoplasms |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0028866 |
BXGD002094 |
Oculomotor Nerve Paralysis |
Eye Diseases; Nervous System Diseases |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029925 |
BXGD002181 |
Ovarian Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0030353 |
BXGD002213 |
Papilledema |
Eye Diseases; Nervous System Diseases |
| C0035411 |
BXGD002547 |
Rhabdomyoma |
Neoplasms |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036690 |
BXGD002632 |
Septicemia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037284 |
BXGD002679 |
Skin lesion |
Skin and Connective Tissue Diseases |
| C0037293 |
BXGD002684 |
Skin tag |
Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases |
| C0037369 |
BXGD002691 |
Smoking |
Behavior and Behavior Mechanisms |
| C0037822 |
BXGD002706 |
Speech Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039070 |
BXGD002787 |
Syncope |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0039685 |
BXGD002825 |
Tetralogy of Fallot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0040264 |
BXGD002857 |
Tinnitus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0040411 |
BXGD002859 |
Tongue Neoplasms |
Neoplasms; Stomatognathic Diseases |
| C0040997 |
BXGD002894 |
Trigeminal Neuralgia |
Nervous System Diseases; Stomatognathic Diseases |
| C0042024 |
BXGD002949 |
Urinary Incontinence |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042025 |
BXGD002950 |
Urinary Stress Incontinence |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0079541 |
BXGD003081 |
Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0080178 |
BXGD003107 |
Spina Bifida |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0085207 |
BXGD003140 |
Gestational Diabetes |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0085633 |
BXGD003216 |
Mood swings |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149951 |
BXGD003392 |
Ovarian Fibromata |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151740 |
BXGD003468 |
Intracranial Hypertension |
Nervous System Diseases |
| C0152427 |
BXGD003590 |
Polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0152438 |
BXGD003592 |
Sprengel deformity |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0155285 |
BXGD003782 |
Orbital cyst |
Pathological Conditions, Signs and Symptoms; Neoplasms; Eye Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0200638 |
BXGD004043 |
Eosinophil count procedure |
|
| C0200641 |
BXGD004044 |
Blood basophil count (lab test) |
|
| C0201976 |
BXGD004063 |
Creatinine measurement, serum (procedure) |
|
| C0205833 |
BXGD004130 |
Medullomyoblastoma |
Neoplasms |
| C0205834 |
BXGD004131 |
Meningiomas, Multiple |
Neoplasms; Nervous System Diseases |
| C0206656 |
BXGD004219 |
Embryonal Rhabdomyosarcoma |
Neoplasms |
| C0220611 |
BXGD004295 |
Childhood Rhabdomyosarcoma |
Neoplasms |
| C0220697 |
BXGD004324 |
POLYDACTYLY, POSTAXIAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0220998 |
BXGD004359 |
Hypothalamic hypothyroidism |
Endocrine System Diseases |
| C0221184 |
BXGD004402 |
Bitemporal Hemianopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0238198 |
BXGD004893 |
Gastrointestinal Stromal Tumors |
Digestive System Diseases; Neoplasms |
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0240063 |
BXGD005015 |
Coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0241011 |
BXGD005073 |
Low serum estradiol levels |
|
| C0241240 |
BXGD005089 |
Tall stature |
|
| C0241397 |
BXGD005095 |
Triphalangeal thumb |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0242343 |
BXGD005153 |
Panhypopituitarism |
Nervous System Diseases; Endocrine System Diseases |
| C0242350 |
BXGD005154 |
Erectile dysfunction |
Male Urogenital Diseases; Mental Disorders |
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0265677 |
BXGD005564 |
Congenital hemivertebra |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265695 |
BXGD005566 |
Congenital fusion of ribs |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266174 |
BXGD005626 |
Duodenal atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266551 |
BXGD005693 |
Congenital coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266623 |
BXGD005702 |
Congenital anomaly of neck |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266667 |
BXGD005707 |
Cyclocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0270680 |
BXGD006083 |
Posterior fossa compression syndrome |
|
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0271270 |
BXGD006178 |
Oculovestibuloauditory syndrome |
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0278152 |
BXGD006503 |
Hemifacial Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0278877 |
BXGD006608 |
Adult Meningioma |
Neoplasms; Nervous System Diseases |
| C0279550 |
BXGD006635 |
Adult Rhabdomyosarcoma |
Neoplasms |
| C0279612 |
BXGD006650 |
Childhood Embryonal Rhabdomyosarcoma |
Neoplasms |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0334482 |
BXGD007085 |
Fetal rhabdomyoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0338591 |
BXGD007204 |
Amnesia, Transient Global |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0342422 |
BXGD007479 |
Pituitary gland enlarged |
Nervous System Diseases; Endocrine System Diseases |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0345397 |
BXGD007734 |
Accessory rib |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0345967 |
BXGD007756 |
Malignant mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C0345996 |
BXGD007761 |
Milium Cyst |
Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases |
| C0347515 |
BXGD007858 |
Spinal Meningioma |
Neoplasms; Nervous System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0349604 |
BXGD007934 |
Intracranial Meningioma |
Neoplasms; Nervous System Diseases |
| C0349658 |
BXGD007947 |
Trichoepithelioma |
Neoplasms |
| C0392514 |
BXGD008051 |
Hereditary hemochromatosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423776 |
BXGD008508 |
Palmar pit |
|
| C0424711 |
BXGD008541 |
Orbital separation diminished |
|
| C0426817 |
BXGD008585 |
Short ribs |
|
| C0431399 |
BXGD008684 |
Familial aplasia of the vermis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases |
| C0431904 |
BXGD008713 |
Ulnar polydactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0476405 |
BXGD008993 |
Lung function testing abnormal |
|
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| 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 |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0694563 |
BXGD009854 |
Excessive daytime somnolence |
|
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0751291 |
BXGD010379 |
Desmoplastic Medulloblastoma |
Neoplasms |
| C0751495 |
BXGD010473 |
Seizures, Focal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0796147 |
BXGD010803 |
Acrocallosal Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0812437 |
BXGD010850 |
Oculo-dento-digital syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0856825 |
BXGD011118 |
Acute GVH disease |
Immune System Diseases |
| C0871470 |
BXGD011316 |
Systolic Pressure |
|
| C0878773 |
BXGD011391 |
Overactive Bladder |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1096654 |
BXGD011637 |
Cardiac fibroma |
Neoplasms; Cardiovascular Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1275668 |
BXGD012090 |
Melanotic medulloblastoma |
Neoplasms |
| C1305855 |
BXGD012348 |
Body mass index |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332852 |
BXGD012547 |
Cardiac rhabdomyoma |
Neoplasms; Cardiovascular Diseases |
| C1333989 |
BXGD012669 |
Familial meningioma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C1334410 |
BXGD012705 |
Localized Primitive Neuroectodermal Tumor |
Neoplasms |
| C1334957 |
BXGD012747 |
Neoplasm of the posterior pituitary |
Neoplasms; Nervous System Diseases; Endocrine System Diseases |
| C1334970 |
BXGD012750 |
Medulloblastoma with extensive nodularity |
Neoplasms |
| C1368275 |
BXGD012897 |
Pigmented Basal Cell Carcinoma |
Neoplasms |
| C1397139 |
BXGD012995 |
Calcification of falx cerebri |
|
| C1519383 |
BXGD013237 |
Smoking Behaviors |
Behavior and Behavior Mechanisms |
| C1527304 |
BXGD013266 |
Allergic Reaction |
Immune System Diseases |
| C1609433 |
BXGD013438 |
Congenital absence of kidneys syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1695776 |
BXGD013497 |
Vertebral wedging |
|
| C1698196 |
BXGD013513 |
Muscle Weakness Upper Limb |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1708604 |
BXGD013608 |
Keratocystic Odontogenic Tumor |
Neoplasms |
| C1762616 |
BXGD013753 |
Meningioma, benign, no ICD-O subtype |
Neoplasms; Nervous System Diseases |
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1836296 |
BXGD014105 |
Muscle Weakness Lower Limb |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836623 |
BXGD014139 |
Decreased circulating cortisol level |
Immune System Diseases; Endocrine System Diseases |
| C1838652 |
BXGD014330 |
SPLIT-HAND/FOOT MALFORMATION 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1839767 |
BXGD014404 |
Tented upper lip vermilion |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1840235 |
BXGD014436 |
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C1840238 |
BXGD014437 |
Midnasal stenosis |
|
| C1840309 |
BXGD014444 |
Short 4th metacarpal |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1848395 |
BXGD014921 |
Large for gestational age |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1849570 |
BXGD015067 |
Progressive pulmonary function impairment |
Respiratory Tract Diseases |
| C1852301 |
BXGD015273 |
Plantar pits |
|
| C1853141 |
BXGD015307 |
Slow decrease in visual acuity |
|
| C1853737 |
BXGD015356 |
Prominent occiput |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1856872 |
BXGD015647 |
Down-sloping shoulders |
|
| C1857126 |
BXGD015678 |
Parietal bossing |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859436 |
BXGD015888 |
Weak extraocular muscles |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1859680 |
BXGD015917 |
Broad face |
|
| C1860493 |
BXGD015987 |
Abnormality of the sternum |
|
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1861866 |
BXGD016087 |
Aplasia/Hypoplasia of the corpus callosum |
|
| C1862304 |
BXGD016120 |
Hamartomatous polyp of stomach |
Digestive System Diseases; Neoplasms |
| C1862313 |
BXGD016121 |
Short distal phalanx of the thumb |
|
| C1865060 |
BXGD016292 |
Molar tooth sign on MRI |
|
| C1866129 |
BXGD016375 |
Abnormality of the cerebellum |
Nervous System Diseases |
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1866959 |
BXGD016429 |
Sella Turcica, Bridged |
Nervous System Diseases; Endocrine System Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931760 |
BXGD018059 |
Acrocallosal syndrome, Schinzel type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2937358 |
BXGD018159 |
Cerebral Hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C3179349 |
BXGD018550 |
Gastrointestinal Stromal Sarcoma |
Digestive System Diseases; Neoplasms |
| C3278509 |
BXGD018742 |
Spinal fusion |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3489733 |
BXGD018945 |
Oculomotor apraxia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases |
| C3551915 |
BXGD019148 |
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO |
|
| C3665349 |
BXGD019280 |
Secondary hypothyroidism |
Endocrine System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3811653 |
BXGD019662 |
Experimental Organism Basal Cell Carcinoma |
Neoplasms |
| C4021206 |
BXGD020578 |
Chromosomal breakage induced by ionizing radiation |
Pathological Conditions, Signs and Symptoms |
| C4021655 |
BXGD020723 |
Abnormality of the sense of smell |
|
| C4021726 |
BXGD020735 |
EMG: myopathic abnormalities |
Musculoskeletal Diseases; Nervous System Diseases |
| C4021792 |
BXGD020783 |
Abnormality of the clavicle |
|
| C4021850 |
BXGD020819 |
Increased sensitivity to ionizing radiation |
|
| C4022395 |
BXGD020896 |
Abnormality of the mediastinum |
|
| C4022775 |
BXGD020998 |
Focal T2 hypointense thalamic lesion |
|
| C4022798 |
BXGD021001 |
Abnormal brain FDG positron emission tomography |
|
| C4023205 |
BXGD021143 |
Neoplasm of the anterior pituitary |
Neoplasms; Nervous System Diseases; Endocrine System Diseases |
| C4023215 |
BXGD021147 |
Abnormality of central sensory function |
|
| C4024716 |
BXGD021383 |
Secondary growth hormone deficiency |
|
| C4025374 |
BXGD021654 |
Irregular ossification of hand bones |
|
| C4025669 |
BXGD021720 |
Decreased circulating ACTH level |
|
| C4072889 |
BXGD022012 |
Decreased circulating follicle stimulating hormone level |
|
| C4072890 |
BXGD022013 |
Decreased circulating luteinizing hormone level |
|
| C4073006 |
BXGD022032 |
Visual acuity test abnormality |
|
| C4073063 |
BXGD022034 |
Abnormal kinetic perimetry test |
|
| C4073137 |
BXGD022045 |
Decreased serum testosterone level |
|
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4282128 |
BXGD022420 |
PATENT DUCTUS ARTERIOSUS 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4540342 |
BXGD023255 |
JOUBERT SYNDROME 32 |
|
| C4551564 |
BXGD023352 |
Narrow nasal bridge |
|
| C4551722 |
BXGD023402 |
Encephalocele |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases |
| C4552960 |
BXGD023530 |
Ear Pain, CTCAE |
|
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4721788 |
BXGD023771 |
Bifid ribs |
|
| C4721806 |
BXGD023772 |
Carcinoma, Basal Cell |
Neoplasms |