| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0003862 |
BXGD000230 |
Arthralgia |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005741 |
BXGD000328 |
Blepharitis |
Eye Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006625 |
BXGD000401 |
Cachexia |
Pathological Conditions, Signs and Symptoms |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007107 |
BXGD000428 |
Malignant neoplasm of larynx |
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0007114 |
BXGD000431 |
Malignant neoplasm of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0007117 |
BXGD000433 |
Basal cell carcinoma |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009207 |
BXGD000593 |
Cockayne Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009676 |
BXGD000619 |
Confusion |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0012569 |
BXGD000777 |
Diplopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System 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 |
| C0013592 |
BXGD000857 |
Ectropion |
Eye Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| C0014390 |
BXGD000913 |
Entropion |
Eye Diseases |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0015230 |
BXGD000969 |
Exanthema |
Skin and Connective Tissue Diseases |
| C0015414 |
BXGD000989 |
Eye Neoplasms |
Neoplasms; Eye Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015625 |
BXGD001006 |
Fanconi Anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic 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 |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0016689 |
BXGD001073 |
Freckles |
Skin and Connective Tissue Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017154 |
BXGD001097 |
Gastritis, Atrophic |
Digestive System Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018553 |
BXGD001203 |
Hamartoma Syndrome, Multiple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0022568 |
BXGD001552 |
Keratitis |
Eye Diseases |
| C0023051 |
BXGD001602 |
Laryngeal Diseases |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0023269 |
BXGD001627 |
leiomyosarcoma |
Neoplasms |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023530 |
BXGD001683 |
Leukopenia |
Hemic and Lymphatic Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024305 |
BXGD001763 |
Lymphoma, Non-Hodgkin |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025286 |
BXGD001850 |
Meningioma |
Neoplasms; Nervous System Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0027947 |
BXGD002061 |
Neutropenia |
Hemic and Lymphatic Diseases |
| C0027962 |
BXGD002064 |
Melanocytic nevus |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030354 |
BXGD002214 |
Papilloma |
Neoplasms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0033999 |
BXGD002448 |
Pterygium |
Eye Diseases |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037772 |
BXGD002703 |
Spastic Paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0039101 |
BXGD002790 |
synovial sarcoma |
Neoplasms |
| C0039483 |
BXGD002813 |
Giant Cell Arteritis |
Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0041834 |
BXGD002935 |
Erythema |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0042109 |
BXGD002957 |
Urticaria |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0043346 |
BXGD003043 |
Xeroderma Pigmentosum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0079588 |
BXGD003084 |
Ichthyosis, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0079731 |
BXGD003087 |
B-Cell Lymphomas |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0079772 |
BXGD003099 |
T-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085636 |
BXGD003218 |
Photophobia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0151514 |
BXGD003429 |
Atrophic condition of skin |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0151779 |
BXGD003473 |
Cutaneous Melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0152025 |
BXGD003521 |
Polyneuropathy |
Nervous System Diseases |
| C0152233 |
BXGD003565 |
Congenital ankyloblepharon |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206634 |
BXGD004199 |
Liposarcoma, Myxoid |
Neoplasms |
| C0206677 |
BXGD004234 |
Adenomatous Polyps |
Neoplasms |
| C0220722 |
BXGD004331 |
Cerebrooculofacioskeletal Syndrome 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0234133 |
BXGD004624 |
Extrapyramidal sign |
|
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0238621 |
BXGD004947 |
Aminoaciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0239105 |
BXGD004962 |
Conjunctival telangiectasis |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240912 |
BXGD005062 |
Vertical Talus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0268135 |
BXGD005831 |
Xeroderma pigmentosum, group A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0268138 |
BXGD005833 |
Xeroderma Pigmentosum, Complementation Group D |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0268141 |
BXGD005835 |
Xeroderma pigmentosum, group G |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0270922 |
BXGD006134 |
Peripheral demyelinating neuropathy |
Immune System Diseases; Nervous System Diseases |
| C0271160 |
BXGD006166 |
Cortical cataract |
Eye Diseases |
| C0278689 |
BXGD006563 |
Recurrent ovarian cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0278996 |
BXGD006621 |
Malignant Head and Neck Neoplasm |
Neoplasms |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0280313 |
BXGD006737 |
Squamous cell carcinoma of oropharynx |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0333983 |
BXGD006975 |
Hyperplastic Polyp |
Pathological Conditions, Signs and Symptoms |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0339182 |
BXGD007229 |
Ankyloblepharon |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349506 |
BXGD007912 |
Photosensitivity of skin |
Skin and Connective Tissue Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0392777 |
BXGD008068 |
Poikiloderma |
Pathological Conditions, Signs and Symptoms |
| C0392784 |
BXGD008069 |
Dermatofibrosarcoma Protuberans |
Neoplasms |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0423250 |
BXGD008476 |
Corneal stromal opacities |
Eye Diseases |
| C0423757 |
BXGD008504 |
Thin skin |
|
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0520680 |
BXGD009102 |
Sleep Apnea, Central |
Respiratory Tract Diseases; Nervous System Diseases |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0549523 |
BXGD009386 |
Oropharynx (excludes nasopharynx) |
|
| C0553723 |
BXGD009416 |
Squamous cell carcinoma of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0595989 |
BXGD009632 |
Carcinoma of larynx |
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0728829 |
BXGD009917 |
Congenital pes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0751039 |
BXGD010302 |
Cockayne Syndrome, Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0751688 |
BXGD010551 |
Malignant Squamous Cell Neoplasm |
Neoplasms |
| C0870082 |
BXGD011309 |
Hyperkeratosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1261473 |
BXGD011855 |
Sarcoma |
Neoplasms |
| C1301937 |
BXGD012300 |
Talipes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1328440 |
BXGD012466 |
Abnormality of amino acid metabolism |
|
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1332979 |
BXGD012571 |
Childhood Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1333762 |
BXGD012639 |
Gastric Cardia Adenocarcinoma |
|
| C1336527 |
BXGD012847 |
Carcinoma of urinary bladder, superficial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1337013 |
BXGD012876 |
Differentiated Thyroid Gland Carcinoma |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1833561 |
BXGD013934 |
UV-Sensitive Syndrome |
Skin and Connective Tissue Diseases |
| C1836735 |
BXGD014155 |
hypopigmented skin patch |
Skin and Connective Tissue Diseases |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1842581 |
BXGD014525 |
Abnormal corpus callosum morphology |
Pathological Conditions, Signs and Symptoms |
| C1842774 |
BXGD014536 |
Hypermelanotic macule |
|
| C1846149 |
BXGD014786 |
Intellectual disability, progressive |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1851443 |
BXGD015215 |
Cerebrooculofacioskeletal Syndrome 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1857656 |
BXGD015731 |
Prematurely aged appearance |
|
| C1857949 |
BXGD015758 |
Prominent metopic ridge |
|
| C1858430 |
BXGD015792 |
Death in infancy |
|
| C1859312 |
BXGD015873 |
CAMFAK syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1866934 |
BXGD016427 |
Reduced tendon reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1868085 |
BXGD016486 |
Craniofacial hyperostosis |
|
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular Diseases |
| C1962966 |
BXGD016678 |
Retinopathy, CTCAE |
|
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1968561 |
BXGD016713 |
Xeroderma Pigmentosum, Type G-Cockayne Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1968564 |
BXGD016714 |
Defective DNA repair after ultraviolet radiation damage |
|
| C1968565 |
BXGD016715 |
Numerous pigmented freckles |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2717836 |
BXGD017510 |
Steroid Sulfatase Deficiency Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C2752147 |
BXGD017769 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931277 |
BXGD017995 |
Pena Shokeir syndrome Type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3469521 |
BXGD018910 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
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 |
| C3887461 |
BXGD019876 |
Head and Neck Carcinoma |
Neoplasms |
| C4022018 |
BXGD020872 |
Telangiectasia of the skin |
Cardiovascular Diseases |
| C4023616 |
BXGD021229 |
Abnormality of immune system physiology |
|
| C4023759 |
BXGD021259 |
Flat nasal alae |
|
| C4025252 |
BXGD021607 |
Abnormal nasal morphology |
|
| C4048328 |
BXGD021903 |
cervical cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4304411 |
BXGD022575 |
Xeroderma pigmentosum and Cockayne syndrome complex |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551686 |
BXGD023391 |
Malignant neoplasm of soft tissue |
Neoplasms |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4553962 |
BXGD023553 |
Hyperkeratosis, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4721806 |
BXGD023772 |
Carcinoma, Basal Cell |
Neoplasms |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|