| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004779 |
BXGD000291 |
Basal Cell Nevus Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0005940 |
BXGD000352 |
Bone Diseases |
Musculoskeletal Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007138 |
BXGD000446 |
Carcinoma, Transitional Cell |
Neoplasms |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010823 |
BXGD000690 |
Cytomegalovirus Infections |
Infections |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0018566 |
BXGD001205 |
Congenital Hand Deformities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023269 |
BXGD001627 |
leiomyosarcoma |
Neoplasms |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027796 |
BXGD002037 |
Neuralgia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029422 |
BXGD002142 |
Osteochondrodysplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030193 |
BXGD002191 |
Pain |
Pathological Conditions, Signs and Symptoms |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034089 |
BXGD002462 |
Pulmonary Valve Stenosis |
Cardiovascular Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039075 |
BXGD002788 |
Syndactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0039685 |
BXGD002825 |
Tetralogy of Fallot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0040433 |
BXGD002865 |
Tooth Crowding |
Stomatognathic Diseases |
| C0040457 |
BXGD002867 |
Tooth, Supernumerary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0079218 |
BXGD003066 |
Fibromatosis, Aggressive |
Neoplasms |
| C0152415 |
BXGD003583 |
Ankyloglossia |
Stomatognathic Diseases |
| C0158113 |
BXGD003875 |
Contracture of joint of hand |
Musculoskeletal Diseases |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206623 |
BXGD004189 |
Adenosquamous carcinoma |
Neoplasms |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| 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 |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0221373 |
BXGD004454 |
Claw hand |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235752 |
BXGD004766 |
Port-Wine Stain |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238198 |
BXGD004893 |
Gastrointestinal Stromal Tumors |
Digestive System Diseases; Neoplasms |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0239399 |
BXGD004981 |
Short extremities |
|
| C0263746 |
BXGD005346 |
Osteoarthritis of the hand |
Musculoskeletal Diseases |
| C0265205 |
BXGD005462 |
Robinow Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases |
| C0265343 |
BXGD005526 |
Jarcho-Levin syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265660 |
BXGD005561 |
Syndactyly of the toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265677 |
BXGD005564 |
Congenital hemivertebra |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265695 |
BXGD005566 |
Congenital fusion of ribs |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0265783 |
BXGD005575 |
Congenital hypoplasia of lung |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0265998 |
BXGD005600 |
ANONYCHIA |
Pathological Conditions, Signs and Symptoms |
| C0266061 |
BXGD005618 |
Open Bite |
Stomatognathic Diseases |
| C0266111 |
BXGD005620 |
Bifid tongue |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266121 |
BXGD005621 |
Congenital absence of uvula |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0266231 |
BXGD005633 |
Ectopic anus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0266298 |
BXGD005646 |
Accessory kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0271441 |
BXGD006203 |
Chronic otitis media |
Otorhinolaryngologic Diseases |
| C0277828 |
BXGD006480 |
Late fontanel closure |
|
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278607 |
BXGD006548 |
Adult Leiomyosarcoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0278883 |
BXGD006614 |
Metastatic melanoma |
Neoplasms |
| C0279651 |
BXGD006674 |
Gallbladder adenocarcinoma |
Digestive System Diseases; Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0279986 |
BXGD006705 |
Childhood Leiomyosarcoma |
Neoplasms |
| C0280100 |
BXGD006713 |
Solid Neoplasm |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349566 |
BXGD007928 |
Squamous cell carcinoma of tongue |
Neoplasms; Stomatognathic Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| 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 |
|
| C0426816 |
BXGD008584 |
Absence of rib |
|
| C0426848 |
BXGD008590 |
Sacral dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0426891 |
BXGD008595 |
Broad thumbs |
|
| C0431128 |
BXGD008664 |
Papillary craniopharyngioma |
Neoplasms |
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0432152 |
BXGD008728 |
Thoracic hemivertebra |
|
| C0432163 |
BXGD008729 |
Defect of vertebral segmentation |
Musculoskeletal Diseases |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0542514 |
BXGD009277 |
Blue sclera |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0549306 |
BXGD009368 |
Mesomelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0566899 |
BXGD009494 |
Small labia majora |
|
| C0575802 |
BXGD009521 |
Small hand |
|
| C0576226 |
BXGD009527 |
Short foot |
|
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0677886 |
BXGD009734 |
Epithelial ovarian cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0749379 |
BXGD010214 |
Thoracolumbar scoliosis |
Musculoskeletal Diseases |
| C0810364 |
BXGD010846 |
Cleft Lip with or without Cleft Palate |
|
| C0812413 |
BXGD010847 |
Malignant Pleural Mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C0878659 |
BXGD011380 |
Disproportionate short stature |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0887833 |
BXGD011398 |
Carcinoma, Pancreatic Ductal |
Digestive System Diseases; Neoplasms; Endocrine System 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 |
| C1261473 |
BXGD011855 |
Sarcoma |
Neoplasms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1300267 |
BXGD012275 |
Brachydactyly syndrome type B |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C1305855 |
BXGD012348 |
Body mass index |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1319315 |
BXGD012415 |
Adenocarcinoma of large intestine |
Digestive System Diseases; Neoplasms |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1336753 |
BXGD012863 |
Thyroid Lymphoma |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1535939 |
BXGD013323 |
Pneumocystis jiroveci pneumonia |
Infections; Respiratory Tract Diseases |
| C1608408 |
BXGD013434 |
Malignant transformation |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1834060 |
BXGD013954 |
Short middle phalanx of the 5th finger |
|
| C1836189 |
BXGD014091 |
Radial deviation of finger |
|
| C1836192 |
BXGD014092 |
Aplasia/Hypoplasia involving the metacarpal bones |
|
| C1836193 |
BXGD014093 |
Synostosis of carpal bones |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837084 |
BXGD014195 |
Short metacarpal |
|
| C1837218 |
BXGD014207 |
Cleft palate, isolated |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1839767 |
BXGD014404 |
Tented upper lip vermilion |
|
| C1839829 |
BXGD014413 |
Short distal phalanx of finger |
|
| C1840069 |
BXGD014433 |
Sandal gap |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1843108 |
BXGD014556 |
Short palm |
|
| C1844527 |
BXGD014640 |
Clitoral hypoplasia |
|
| C1844554 |
BXGD014643 |
Absent fingernail |
Pathological Conditions, Signs and Symptoms |
| C1846950 |
BXGD014848 |
Short middle phalanx of finger |
|
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1849334 |
BXGD015038 |
Robinow syndrome, autosomal recessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1849340 |
BXGD015039 |
Long palpebral fissure |
|
| C1849341 |
BXGD015040 |
Triangular mouth |
|
| C1849343 |
BXGD015041 |
Duplication of the distal phalanx of hand |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1849540 |
BXGD015065 |
Delayed eruption of permanent teeth |
|
| C1849937 |
BXGD015091 |
Disproportionate short-limb short stature |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1850629 |
BXGD015161 |
Exaggerated cupid's bow |
|
| C1851710 |
BXGD015226 |
LATERAL MENINGOCELE SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1853241 |
BXGD015321 |
Flat face |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854912 |
BXGD015441 |
Short long bone |
|
| C1856786 |
BXGD015645 |
Hypoplastic fingernail |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1858430 |
BXGD015792 |
Death in infancy |
|
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1861336 |
BXGD016035 |
Aplasia/Hypoplasia of the distal phalanges of the hand |
|
| C1861376 |
BXGD016041 |
2nd-5th toe middle phalangeal hypoplasia |
|
| C1862095 |
BXGD016100 |
Bilateral single transverse palmar creases |
|
| C1862112 |
BXGD016104 |
BRACHYDACTYLY, TYPE B1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1863753 |
BXGD016197 |
LIMB-MAMMARY SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1865038 |
BXGD016290 |
Broad toe |
|
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1866195 |
BXGD016385 |
Downturned corners of mouth |
|
| C1956257 |
BXGD016623 |
Pulmonary Stenosis |
Cardiovascular Diseases |
| C1969652 |
BXGD016786 |
BRACHYDACTYLY, TYPE B2 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1970816 |
BXGD016843 |
Hypoplastic sacrum |
|
| C2004493 |
BXGD016875 |
Leukemia, B-Cell |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C2145472 |
BXGD016931 |
Urothelial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C2981150 |
BXGD018211 |
Uranostaphyloschisis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3151520 |
BXGD018439 |
Early severe fetal akinesia sequence |
|
| C3151609 |
BXGD018444 |
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS |
|
| C3151610 |
BXGD018445 |
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY |
|
| C3164374 |
BXGD018527 |
Abnormality of pulmonary valve |
|
| C3278509 |
BXGD018742 |
Spinal fusion |
|
| C3714581 |
BXGD019415 |
Multicystic Dysplastic Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| 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 |
| C4020952 |
BXGD020505 |
Fingernail dysplasia |
|
| C4021326 |
BXGD020609 |
Aplasia/Hypoplasia of the distal phalanges of the toes |
|
| C4021343 |
BXGD020613 |
Broad hallux phalanx |
|
| C4021390 |
BXGD020622 |
Symphalangism affecting the phalanges of the hand |
|
| C4021735 |
BXGD020743 |
Abnormality of the hip bone |
|
| C4021772 |
BXGD020769 |
Bifid distal phalanx of toe |
|
| C4021813 |
BXGD020799 |
Oral cleft |
|
| C4021815 |
BXGD020801 |
Abnormal palate morphology |
|
| C4022715 |
BXGD020967 |
Hypoplastic female external genitalia |
|
| C4025753 |
BXGD021777 |
Abnormal tricuspid valve morphology |
|
| C4025756 |
BXGD021778 |
Abnormal aortic morphology |
|
| C4049798 |
BXGD021952 |
Total Respiratory System Resistance |
|
| C4082974 |
BXGD022099 |
Dupuytren's Disease |
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4551475 |
BXGD023305 |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases |
| C4551476 |
BXGD023306 |
Robinow Syndrome, Autosomal Dominant |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases |
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551687 |
BXGD023392 |
Sarcoma of soft tissue |
Neoplasms |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|