| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001807 |
BXGD000077 |
Aggressive behavior |
Behavior and Behavior Mechanisms |
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0003507 |
BXGD000203 |
Aortic Valve Stenosis |
Cardiovascular Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune 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 |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007682 |
BXGD000471 |
CNS disorder |
Nervous System Diseases |
| C0007785 |
BXGD000485 |
Cerebral Infarction |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0008445 |
BXGD000541 |
Chondrodysplasia Punctata |
Musculoskeletal Diseases |
| C0008497 |
BXGD000549 |
Choriocarcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0008533 |
BXGD000556 |
Hemophilia B |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010054 |
BXGD000647 |
Coronary Arteriosclerosis |
Cardiovascular Diseases |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0010823 |
BXGD000690 |
Cytomegalovirus Infections |
Infections |
| C0010964 |
BXGD000692 |
Dandy-Walker Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0011265 |
BXGD000708 |
Presenile dementia |
Nervous System Diseases; Mental Disorders |
| C0011606 |
BXGD000735 |
Exfoliative dermatitis |
Skin and Connective Tissue Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| C0013911 |
BXGD000867 |
Emaciation |
Pathological Conditions, Signs and Symptoms |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0016057 |
BXGD001042 |
Fibrosarcoma |
Neoplasms |
| C0017185 |
BXGD001104 |
Gastrointestinal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018798 |
BXGD001223 |
Congenital Heart Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019163 |
BXGD001295 |
Hepatitis B |
Digestive System Diseases; Infections |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0020175 |
BXGD001362 |
Hunger |
Behavior and Behavior Mechanisms |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020492 |
BXGD001404 |
Hyperostosis |
Musculoskeletal Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0020758 |
BXGD001467 |
Congenital ichthyosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0022735 |
BXGD001581 |
Klinefelter Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023051 |
BXGD001602 |
Laryngeal Diseases |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0023267 |
BXGD001626 |
Fibroid Tumor |
Neoplasms |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023448 |
BXGD001649 |
Lymphoid leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023449 |
BXGD001650 |
Acute lymphocytic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023470 |
BXGD001659 |
Myeloid Leukemia |
Neoplasms |
| C0023473 |
BXGD001661 |
Myeloid Leukemia, Chronic |
Neoplasms; Hemic and Lymphatic Diseases |
| C0023487 |
BXGD001669 |
Acute Promyelocytic Leukemia |
Neoplasms |
| C0023521 |
BXGD001679 |
Globoid cell leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023885 |
BXGD001711 |
Liver Abscess |
Digestive System Diseases; Infections |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024314 |
BXGD001767 |
Lymphoproliferative Disorders |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| 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 |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| 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 |
| C0029422 |
BXGD002142 |
Osteochondrodysplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0029443 |
BXGD002152 |
Osteomyelitis |
Infections; Musculoskeletal Diseases |
| C0030354 |
BXGD002214 |
Papilloma |
Neoplasms |
| C0033027 |
BXGD002388 |
Preleukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037274 |
BXGD002676 |
Dermatologic disorders |
Skin and Connective Tissue Diseases |
| C0037277 |
BXGD002677 |
Skin Diseases, Genetic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0037284 |
BXGD002679 |
Skin lesion |
Skin and Connective Tissue Diseases |
| C0040583 |
BXGD002878 |
Tracheal Stenosis |
Respiratory Tract Diseases |
| C0041834 |
BXGD002935 |
Erythema |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0042133 |
BXGD002960 |
Uterine Fibroids |
Neoplasms |
| C0079583 |
BXGD003082 |
Ichthyosiform Erythroderma, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0085580 |
BXGD003191 |
Essential Hypertension |
Cardiovascular Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0152415 |
BXGD003583 |
Ankyloglossia |
Stomatognathic Diseases |
| C0152427 |
BXGD003590 |
Polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0158733 |
BXGD003903 |
Hand polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0158734 |
BXGD003904 |
Polydactyly of toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0206064 |
BXGD004150 |
Microvascular Angina |
Cardiovascular Diseases |
| C0206634 |
BXGD004199 |
Liposarcoma, Myxoid |
Neoplasms |
| C0220615 |
BXGD004298 |
Adult Acute Myeloblastic Leukemia |
Neoplasms |
| C0220621 |
BXGD004300 |
Childhood Acute Myeloid Leukemia |
Neoplasms |
| C0220748 |
BXGD004336 |
Cartilage-hair hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0221106 |
BXGD004390 |
Alkalemia |
|
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239399 |
BXGD004981 |
Short extremities |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| 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 |
| C0263627 |
BXGD005333 |
Calcinosis universalis |
Nutritional and Metabolic Diseases |
| C0264169 |
BXGD005370 |
Saddle nose |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0264324 |
BXGD005381 |
Calcification of trachea |
Nutritional and Metabolic Diseases; Respiratory Tract Diseases |
| C0265267 |
BXGD005492 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0265374 |
BXGD005533 |
Warfarin syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0265677 |
BXGD005564 |
Congenital hemivertebra |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266544 |
BXGD005691 |
Microcornea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0271402 |
BXGD006199 |
Scleral abscess |
Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases |
| C0278595 |
BXGD006545 |
Adult Fibrosarcoma |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0280449 |
BXGD006746 |
secondary acute myeloid leukemia |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0282102 |
BXGD006795 |
Chondrodysplasia punctata, X-linked dominant type |
Musculoskeletal Diseases |
| C0302142 |
BXGD006831 |
Deformity |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0333662 |
BXGD006963 |
Hemiatrophy |
Pathological Conditions, Signs and Symptoms |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0398593 |
BXGD008196 |
Specific granule deficiency |
Hemic and Lymphatic Diseases |
| C0400966 |
BXGD008266 |
Non-alcoholic Fatty Liver Disease |
Digestive System Diseases |
| C0410528 |
BXGD008430 |
Skeletal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426848 |
BXGD008590 |
Sacral dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0432474 |
BXGD008793 |
Klinefelter's syndrome - male with more than two X chromosomes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0521707 |
BXGD009166 |
Bilateral cataracts (disorder) |
Eye Diseases |
| C0522216 |
BXGD009197 |
Abnormal auditory evoked potential |
|
| C0545074 |
BXGD009324 |
Myxoid/Round Cell Liposarcoma |
Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; 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 |
| C0747845 |
BXGD010184 |
early pregnancy |
|
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0920299 |
BXGD011465 |
Overriding toe |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1291601 |
BXGD012221 |
Deficiency of isomerase |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1328407 |
BXGD012465 |
Hip Dysplasia |
Musculoskeletal Diseases; Wounds and Injuries |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1334815 |
BXGD012743 |
Multi-centric Castleman's Disease |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C1336735 |
BXGD012856 |
Treatment related acute myeloid leukaemia |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1446712 |
BXGD013083 |
Overlapping fingers |
|
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1561826 |
BXGD013364 |
Overweight and obesity |
|
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1658953 |
BXGD013486 |
tumor vasculature |
|
| C1834129 |
BXGD013957 |
Abnormal vertebral morphology |
|
| C1836940 |
BXGD014182 |
Thickened nuchal skin fold |
|
| C1837835 |
BXGD014279 |
Bilateral talipes equinovarus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1838391 |
BXGD014313 |
Limb hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1839546 |
BXGD014385 |
Microretrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1839816 |
BXGD014411 |
Long neck |
|
| C1840013 |
BXGD014429 |
Elevated 8-dehydrocholesterol |
|
| C1840014 |
BXGD014430 |
Elevated 8(9)-cholestenol |
|
| C1843300 |
BXGD014572 |
Sparse eyelashes |
|
| C1844830 |
BXGD014684 |
CLEFT PALATE, X-LINKED |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1844831 |
BXGD014685 |
Cleft Palate with Ankyloglossia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1844846 |
BXGD014686 |
Stippled calcification in carpal bones |
|
| C1844848 |
BXGD014687 |
Tarsal stippling |
|
| C1844853 |
BXGD014688 |
Brachytelephalangic Chondrodysplasia Punctata |
|
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1846421 |
BXGD014811 |
Lathosterolosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1849993 |
BXGD015095 |
Calcific stippling |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853241 |
BXGD015321 |
Flat face |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1858091 |
BXGD015771 |
Long fingers |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859126 |
BXGD015854 |
Stippled epiphyses |
|
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1866730 |
BXGD016419 |
Rhizomelia |
|
| C1867131 |
BXGD016440 |
Broad hallux |
|
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular Diseases |
| C1961102 |
BXGD016673 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1997217 |
BXGD016859 |
Low grade glioma |
Neoplasms |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2362324 |
BXGD017091 |
Pediatric Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C2363741 |
BXGD017100 |
HIV-1 infection |
|
| C2610861 |
BXGD017183 |
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity |
|
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2825139 |
BXGD017770 |
Acute Myeloid Leukemia with Myelodysplasia-Related Changes |
Neoplasms |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3273239 |
BXGD018649 |
Proliferative Inflammatory Atrophy |
Male Urogenital Diseases |
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806178 |
BXGD019497 |
Spotty hypopigmentation |
|
| C3806301 |
BXGD019504 |
Scarring alopecia of scalp |
|
| C3854222 |
BXGD019826 |
Human immunodeficiency virus (HIV) II infection category B1 |
|
| C3888194 |
BXGD019955 |
MIXED LINEAGE LEUKEMIA |
|
| C4016464 |
BXGD020340 |
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL |
|
| C4020847 |
BXGD020486 |
Abnormality of pelvic girdle bone morphology |
|
| C4021087 |
BXGD020546 |
Abnormal social behavior |
Behavior and Behavior Mechanisms |
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4021797 |
BXGD020787 |
Abnormality of the thorax |
|
| C4023722 |
BXGD021253 |
Abnormality of hair texture |
|
| C4024153 |
BXGD021290 |
Asymmetry of the mouth |
|
| C4024678 |
BXGD021366 |
Punctate vertebral calcifications |
|
| C4024737 |
BXGD021397 |
Aplasia/Hypoplasia of the skin |
|
| C4085243 |
BXGD022112 |
MEND SYNDROME |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4282407 |
BXGD022423 |
Sparse and thin eyebrow |
|
| C4528668 |
BXGD023176 |
Acute myeloid leukaemia refractory |
Neoplasms |
| C4551570 |
BXGD023357 |
2-3 toe syndactyly |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|