| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002726 |
BXGD000125 |
Amyloidosis |
Nutritional and Metabolic Diseases |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009691 |
BXGD000622 |
Congenital cataract |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System 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 |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0018418 |
BXGD001192 |
Gynecomastia |
Skin and Connective Tissue Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023485 |
BXGD001667 |
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024814 |
BXGD001809 |
Marinesco-Sjogren syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026985 |
BXGD001956 |
Myelodysplasia |
|
| 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 |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| 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 |
| C0079772 |
BXGD003099 |
T-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0220615 |
BXGD004298 |
Adult Acute Myeloblastic Leukemia |
Neoplasms |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0232197 |
BXGD004536 |
Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0265338 |
BXGD005522 |
Coffin-Siris syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms |
| C0265339 |
BXGD005523 |
Borjeson-Forssman-Lehmann syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279583 |
BXGD006640 |
Childhood T Acute Lymphoblastic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0279646 |
BXGD006670 |
Childhood Acute Monocytic Leukemia |
Neoplasms |
| C0280141 |
BXGD006716 |
Acute Undifferentiated Leukemia |
|
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0280634 |
BXGD006753 |
Adult Acute Monocytic Leukemia |
Neoplasms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376544 |
BXGD008001 |
Hematopoietic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0426886 |
BXGD008594 |
Tapering fingers (finding) |
|
| C0431659 |
BXGD008699 |
Hypoplasia of scrotum |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0522631 |
BXGD009205 |
Acute myeloid leukemia, minimal differentiation |
Neoplasms |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0949664 |
BXGD011583 |
Tauopathies |
Nervous System Diseases |
| C1136249 |
BXGD011715 |
Mental Retardation, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1292769 |
BXGD012230 |
Precursor B-cell lymphoblastic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1306341 |
BXGD012360 |
Mental handicap |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1318544 |
BXGD012401 |
M5b Acute differentiated monocytic leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1691215 |
BXGD013491 |
Penile hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1836195 |
BXGD014094 |
Short toe |
|
| C1837218 |
BXGD014207 |
Cleft palate, isolated |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1842060 |
BXGD014491 |
Prominent supraorbital ridges |
|
| C1844573 |
BXGD014646 |
Large earlobe |
|
| C1844923 |
BXGD014694 |
Hypoplasia of the prostate |
|
| C1844925 |
BXGD014695 |
Cervical spinal canal stenosis |
|
| C1844926 |
BXGD014696 |
Scheuermann-like vertebral changes |
Musculoskeletal Diseases |
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1853487 |
BXGD015340 |
Thick eyebrow |
|
| C1856912 |
BXGD015656 |
Shortening of all middle phalanges of the fingers |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858452 |
BXGD015796 |
Thickened calvaria |
|
| C1866241 |
BXGD016389 |
Broad foot |
Musculoskeletal Diseases |
| C1961099 |
BXGD016672 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1969238 |
BXGD016769 |
Widely spaced toes |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2675021 |
BXGD017264 |
Narrow palpebral fissure |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2939461 |
BXGD018180 |
Myeloid neoplasm |
Neoplasms; Hemic and Lymphatic Diseases |
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| 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 |
| C4012968 |
BXGD020124 |
Mild global developmental delay |
|
| C4021004 |
BXGD020519 |
Short middle phalanx of the 4th toe |
|
| C4021608 |
BXGD020695 |
Shortening of all distal phalanges of the fingers |
|
| C4021735 |
BXGD020743 |
Abnormality of the hip bone |
|
| C4021774 |
BXGD020770 |
Camptodactyly of toe |
|
| C4021813 |
BXGD020799 |
Oral cleft |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551560 |
BXGD023349 |
Truncal obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C4551570 |
BXGD023357 |
2-3 toe syndactyly |
|
| C4551838 |
BXGD023417 |
Talipes transversoplanus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |