| C0002985 |
BXGD000164 |
Angiokeratoma |
Neoplasms |
| C0003028 |
BXGD000170 |
Anhidrosis |
Skin and Connective Tissue Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0011884 |
BXGD000762 |
Diabetic Retinopathy |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014772 |
BXGD000948 |
Red Blood Cell Count measurement |
|
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0016788 |
BXGD001081 |
Fucosidase Deficiency Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019270 |
BXGD001311 |
Hernia |
Pathological Conditions, Signs and Symptoms |
| C0019572 |
BXGD001338 |
Hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0019693 |
BXGD001346 |
HIV Infections |
Infections; Immune System Diseases |
| C0020458 |
BXGD001393 |
Hyperhidrosis disorder |
Skin and Connective Tissue Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023787 |
BXGD001698 |
Lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027533 |
BXGD001995 |
Neck Neoplasms |
Neoplasms |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| 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 |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0086795 |
BXGD003311 |
Pfaundler-Hurler Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0152025 |
BXGD003521 |
Polyneuropathy |
Nervous System Diseases |
| C0162819 |
BXGD003984 |
Skin Diseases, Vascular |
Skin and Connective Tissue Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206694 |
BXGD004245 |
Mucoepidermoid Carcinoma |
Neoplasms |
| C0221347 |
BXGD004442 |
Acrocyanosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0234132 |
BXGD004623 |
Pyramidal sign |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0238461 |
BXGD004936 |
Anaplastic thyroid carcinoma |
Neoplasms |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0239137 |
BXGD004965 |
Coxa valga |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0264172 |
BXGD005371 |
Barrel chest |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266249 |
BXGD005635 |
Gallbladder anomaly congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0268221 |
BXGD005855 |
Fucosidosis Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0268222 |
BXGD005856 |
Fucosidosis Type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0426421 |
BXGD008561 |
Wide nose |
|
| C0426886 |
BXGD008594 |
Tapering fingers (finding) |
|
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0853087 |
BXGD010964 |
Nail abnormality |
Pathological Conditions, Signs and Symptoms |
| C0861352 |
BXGD011246 |
Lobular Neoplasia |
Neoplasms; Skin and Connective Tissue Diseases |
| C1184923 |
BXGD011800 |
Lumbar hyperlordosis |
Musculoskeletal Diseases |
| C1280433 |
BXGD012125 |
Lipoatrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1527336 |
BXGD013271 |
Sjogren's Syndrome |
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases |
| C1834124 |
BXGD013956 |
Shield chest |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836855 |
BXGD014170 |
Vacuolated lymphocytes |
|
| C1837108 |
BXGD014199 |
Decreased muscle mass |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853487 |
BXGD015340 |
Thick eyebrow |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1855391 |
BXGD015494 |
Tortuosity of conjunctival vessels |
|
| C1856639 |
BXGD015623 |
Absent/hypoplastic paranasal sinuses |
|
| C1856641 |
BXGD015624 |
Cervical platyspondyly |
|
| C1856644 |
BXGD015625 |
Absent/hypoplastic coccyx |
|
| C1856646 |
BXGD015626 |
Elevated sweat chloride |
|
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C1969913 |
BXGD016800 |
Generalized hyperkeratosis |
|
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C4021541 |
BXGD020662 |
Anterior beaking of lumbar vertebrae |
|
| C4021664 |
BXGD020727 |
Abnormality of the abdominal wall |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C4023815 |
BXGD021270 |
Oligosacchariduria |
|
| C4024726 |
BXGD021387 |
Mucopolysacchariduria |
|
| C4025302 |
BXGD021634 |
Anterior beaking of thoracic vertebrae |
|
| C4317149 |
BXGD022731 |
Vacuolated Lymphocyte Count |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|