| C0001126 |
BXGD000025 |
Renal tubular acidosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0002895 |
BXGD000152 |
Anemia, Sickle Cell |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0004604 |
BXGD000278 |
Back Pain |
Pathological Conditions, Signs and Symptoms |
| C0005940 |
BXGD000352 |
Bone Diseases |
Musculoskeletal Diseases |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0008711 |
BXGD000566 |
Chronic rhinitis |
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0010278 |
BXGD000660 |
Craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0011334 |
BXGD000716 |
Dental caries |
Stomatognathic Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System 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 |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018552 |
BXGD001202 |
Hamartoma |
Neoplasms |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019214 |
BXGD001307 |
Hepatosplenomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020598 |
BXGD001440 |
Hypocalcemia |
Nutritional and Metabolic Diseases |
| C0021400 |
BXGD001504 |
Influenza |
Infections; Respiratory Tract Diseases |
| C0022650 |
BXGD001568 |
Kidney Calculi |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0024636 |
BXGD001793 |
Malocclusion |
Stomatognathic Diseases |
| C0026618 |
BXGD001909 |
Dental Fluorosis, Acquired |
Stomatognathic Diseases |
| C0027543 |
BXGD001997 |
Avascular necrosis of bone |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029410 |
BXGD002138 |
Osteoarthritis of hip |
Musculoskeletal Diseases |
| C0029443 |
BXGD002152 |
Osteomyelitis |
Infections; Musculoskeletal Diseases |
| C0029454 |
BXGD002155 |
Osteopetrosis |
Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029464 |
BXGD002161 |
Osteosclerosis |
Musculoskeletal Diseases |
| C0029882 |
BXGD002177 |
Otitis Media |
Otorhinolaryngologic Diseases |
| C0030193 |
BXGD002191 |
Pain |
Pathological Conditions, Signs and Symptoms |
| C0030232 |
BXGD002197 |
Pallor |
Pathological Conditions, Signs and Symptoms |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0040427 |
BXGD002864 |
Tooth Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042798 |
BXGD003003 |
Low Vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0085660 |
BXGD003228 |
Aseptic necrosis |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0085682 |
BXGD003238 |
Hypophosphatemia |
Nutritional and Metabolic Diseases |
| C0151311 |
BXGD003412 |
Cranial nerve palsies |
Nervous System Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151825 |
BXGD003481 |
Bone pain |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0151849 |
BXGD003486 |
Alkaline phosphatase raised |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0152009 |
BXGD003515 |
White blood cell abnormality |
Hemic and Lymphatic Diseases |
| C0162835 |
BXGD003989 |
Hypopigmentation disorder |
Skin and Connective Tissue Diseases |
| C0206160 |
BXGD004166 |
Reticulocytosis |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C0234632 |
BXGD004691 |
Reduced visual acuity |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0238397 |
BXGD004923 |
Pulmonary artery stenosis |
Cardiovascular Diseases |
| C0239174 |
BXGD004969 |
Late tooth eruption |
|
| C0240231 |
BXGD005026 |
Fractures of the long bones |
Wounds and Injuries |
| C0241144 |
BXGD005080 |
Petechiae of skin |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases |
| C0242567 |
BXGD005177 |
Opsoclonus |
Eye Diseases; Nervous System Diseases |
| C0266052 |
BXGD005614 |
Precocious exfoliation of primary tooth |
Stomatognathic Diseases |
| C0271344 |
BXGD006187 |
Compression of optic nerve |
Eye Diseases; Nervous System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0392525 |
BXGD008052 |
Nephrolithiasis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0423798 |
BXGD008510 |
Increased tendency to bruise |
Wounds and Injuries |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426790 |
BXGD008577 |
Narrow thorax |
|
| C0432261 |
BXGD008759 |
Osteopetrosis - intermediate type |
Musculoskeletal Diseases |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0497156 |
BXGD009053 |
Lymphadenopathy |
Hemic and Lymphatic Diseases |
| C0522214 |
BXGD009196 |
Abnormal visual evoked potential |
Nervous System Diseases |
| C0554970 |
BXGD009428 |
Pallor of optic disc |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0686377 |
BXGD009834 |
CNS metastases |
Neoplasms; Nervous System Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0948201 |
BXGD011515 |
Alloimmunisation |
|
| C1290708 |
BXGD012194 |
Osteomyelitis of mandible |
Infections; Musculoskeletal Diseases |
| C1314665 |
BXGD012386 |
Serum alkaline phosphatase raised |
|
| C1318518 |
BXGD012396 |
Infantile malignant osteopetrosis |
Musculoskeletal Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1832160 |
BXGD013803 |
Abnormality of temperature regulation |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1839829 |
BXGD014413 |
Short distal phalanx of finger |
|
| C1839866 |
BXGD014421 |
Elevated serum acid phosphatase |
Nutritional and Metabolic Diseases |
| C1842083 |
BXGD014494 |
Abnormality of the ribs |
|
| C1843331 |
BXGD014574 |
Generalized osteosclerosis |
Musculoskeletal Diseases |
| C1850134 |
BXGD015111 |
Sandwich appearance of vertebral bodies |
|
| C1855340 |
BXGD015490 |
Bowing of the long bones |
|
| C1855895 |
BXGD015557 |
Erlenmeyer flask deformity of the femurs |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1876214 |
BXGD016567 |
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases |
| C1963077 |
BXGD016680 |
Bone Pain, CTCAE 3.0 |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1969093 |
BXGD016757 |
Osteopetrosis, Autosomal Recessive 6 |
Musculoskeletal Diseases |
| C1969106 |
BXGD016758 |
Osteopetrosis, Autosomal Recessive 4 |
Musculoskeletal Diseases |
| C2132198 |
BXGD016930 |
Abnormal blistering of the skin |
|
| C2674432 |
BXGD017246 |
Reduced bone mineral density |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2973725 |
BXGD018205 |
Pulmonary arterial hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C3164374 |
BXGD018527 |
Abnormality of pulmonary valve |
|
| C3179239 |
BXGD018549 |
Osteopetrosis Autosomal Dominant Type 2 |
Musculoskeletal Diseases |
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3645711 |
BXGD019248 |
Congenital Osteopetrosis |
Musculoskeletal 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 |
| C3805574 |
BXGD019481 |
Increased fracture rate |
|
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C3887513 |
BXGD019887 |
Avascular necrosis |
Pathological Conditions, Signs and Symptoms |
| C4020847 |
BXGD020486 |
Abnormality of pelvic girdle bone morphology |
|
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4021624 |
BXGD020701 |
Osteosclerosis of the base of the skull |
|
| C4021785 |
BXGD020778 |
Abnormality of the metacarpal bones |
Musculoskeletal Diseases |
| C4023681 |
BXGD021239 |
Delayed fine motor development |
|
| C4023722 |
BXGD021253 |
Abnormality of hair texture |
|
| C4024763 |
BXGD021410 |
Optic atrophy from cranial nerve compression |
Eye Diseases; Nervous System Diseases |
| C4025164 |
BXGD021572 |
Cortical sclerosis |
Musculoskeletal Diseases |
| C4025251 |
BXGD021606 |
Abnormality of the vertebral endplates |
|
| C4025814 |
BXGD021806 |
Abnormality of the metaphysis |
|
| C4272578 |
BXGD022330 |
Autosomal Recessive Osteopetrosis |
Musculoskeletal Diseases |
| C4272579 |
BXGD022331 |
Autosomal Dominant Osteopetrosis |
Musculoskeletal Diseases |
| C4330904 |
BXGD022808 |
Osteoclast-Rich Osteopetrosis |
Musculoskeletal Diseases |
| C4551970 |
BXGD023457 |
Sclerotic vertebral endplates |
|
| C4553018 |
BXGD023532 |
Avascular Necrosis, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4554063 |
BXGD023559 |
Bone Pain, CTCAE 5.0 |
|