| C0000889 |
BXGD000018 |
Acanthosis Nigricans |
Skin and Connective Tissue Diseases |
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0002312 |
BXGD000107 |
alpha-Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0002962 |
BXGD000160 |
Angina Pectoris |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003090 |
BXGD000175 |
Ankylosis |
Musculoskeletal 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 |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006663 |
BXGD000403 |
Calcinosis |
Nutritional and Metabolic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007282 |
BXGD000458 |
Carotid Stenosis |
Nervous System Diseases; Cardiovascular Diseases |
| C0007787 |
BXGD000487 |
Transient Ischemic Attack |
Nervous System Diseases; Cardiovascular Diseases |
| C0008297 |
BXGD000522 |
Choanal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0009207 |
BXGD000593 |
Cockayne Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010520 |
BXGD000675 |
Cyanosis |
Pathological Conditions, Signs and Symptoms |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0011644 |
BXGD000744 |
Scleroderma |
Skin and Connective Tissue Diseases |
| C0011813 |
BXGD000748 |
Dextrocardia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014390 |
BXGD000913 |
Entropion |
Eye Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0015826 |
BXGD001022 |
Fenestration (morphologic abnormality) |
|
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0015944 |
BXGD001028 |
Fetal Membranes, Premature Rupture |
Female Urogenital Diseases and Pregnancy Complications |
| C0017668 |
BXGD001143 |
Focal glomerulosclerosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019100 |
BXGD001283 |
Severe Dengue |
Infections |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020456 |
BXGD001392 |
Hyperglycemia |
Nutritional and Metabolic Diseases |
| C0020459 |
BXGD001394 |
Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C0020473 |
BXGD001396 |
Hyperlipidemia |
Nutritional and Metabolic Diseases |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020557 |
BXGD001432 |
Hypertriglyceridemia |
Nutritional and Metabolic Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0020620 |
BXGD001448 |
Hypohidrosis |
Skin and Connective Tissue Diseases |
| C0020678 |
BXGD001463 |
Hypotrichosis |
Skin and Connective Tissue Diseases |
| C0021359 |
BXGD001498 |
Infertility |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0021400 |
BXGD001504 |
Influenza |
Infections; Respiratory Tract Diseases |
| C0021655 |
BXGD001508 |
Insulin Resistance |
Nutritional and Metabolic Diseases |
| C0021775 |
BXGD001512 |
Intermittent Claudication |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0022575 |
BXGD001555 |
Keratoconjunctivitis Sicca |
Eye Diseases |
| C0022602 |
BXGD001564 |
Actinic keratosis |
Neoplasms; Skin and Connective Tissue Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023473 |
BXGD001661 |
Myeloid Leukemia, Chronic |
Neoplasms; Hemic and Lymphatic Diseases |
| C0023487 |
BXGD001669 |
Acute Promyelocytic Leukemia |
Neoplasms |
| C0023787 |
BXGD001698 |
Lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0024689 |
BXGD001796 |
Mandibular Diseases |
Musculoskeletal Diseases; Stomatognathic Diseases |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026034 |
BXGD001887 |
Microstomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0027443 |
BXGD001992 |
Natal Teeth |
|
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0032914 |
BXGD002379 |
Pre-Eclampsia |
Female Urogenital Diseases and Pregnancy Complications |
| C0033300 |
BXGD002403 |
Progeria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0036421 |
BXGD002613 |
Systemic Scleroderma |
Skin and Connective Tissue Diseases |
| C0037274 |
BXGD002676 |
Dermatologic disorders |
Skin and Connective Tissue Diseases |
| C0039239 |
BXGD002803 |
Sinus Tachycardia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0040433 |
BXGD002865 |
Tooth Crowding |
Stomatognathic Diseases |
| C0040761 |
BXGD002883 |
Transposition of Great Vessels |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0085681 |
BXGD003237 |
Hyperphosphatemia (disorder) |
Nutritional and Metabolic Diseases |
| C0086432 |
BXGD003281 |
Hyalinosis, Segmental Glomerular |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151514 |
BXGD003429 |
Atrophic condition of skin |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151872 |
BXGD003493 |
Prothrombin time increased |
Hemic and Lymphatic Diseases |
| C0151878 |
BXGD003495 |
Prolonged QT interval |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0158986 |
BXGD003916 |
Neonatal hypoglycemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0162834 |
BXGD003988 |
Hyperpigmentation |
Skin and Connective Tissue Diseases |
| C0221032 |
BXGD004374 |
Familial generalized lipodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0221217 |
BXGD004408 |
Neck webbing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0221260 |
BXGD004424 |
Dystrophia unguium |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0221365 |
BXGD004452 |
Double ureter |
|
| C0231341 |
BXGD004492 |
Premature aging syndrome |
Pathological Conditions, Signs and Symptoms |
| C0232513 |
BXGD004553 |
Premature tooth loss |
Stomatognathic Diseases |
| C0235357 |
BXGD004742 |
Hypoplasia of teeth |
Digestive System Diseases; Stomatognathic Diseases |
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0237849 |
BXGD004849 |
Peeling of skin |
|
| C0238621 |
BXGD004947 |
Aminoaciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0239174 |
BXGD004969 |
Late tooth eruption |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240538 |
BXGD005041 |
Convex nasal ridge |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0240912 |
BXGD005062 |
Vertical Talus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0241011 |
BXGD005073 |
Low serum estradiol levels |
|
| C0241181 |
BXGD005084 |
Fragile skin |
|
| C0241703 |
BXGD005109 |
High pitched voice |
|
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0263490 |
BXGD005314 |
Brittle hair |
|
| C0263498 |
BXGD005316 |
Premature canities |
|
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265783 |
BXGD005575 |
Congenital hypoplasia of lung |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0266200 |
BXGD005630 |
Microcolon |
Digestive System Diseases |
| C0266623 |
BXGD005702 |
Congenital anomaly of neck |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266786 |
BXGD005713 |
Short cord |
|
| C0268731 |
BXGD006029 |
Renal glomerular disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0270254 |
BXGD006073 |
Hydrops of placenta |
Female Urogenital Diseases and Pregnancy Complications |
| C0270960 |
BXGD006141 |
Congenital myopathy (disorder) |
Musculoskeletal Diseases; Nervous System Diseases |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0271694 |
BXGD006239 |
Familial partial lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0277828 |
BXGD006480 |
Late fontanel closure |
|
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0342482 |
BXGD007486 |
X-linked Adrenal Hypoplasia |
Endocrine System Diseases |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376634 |
BXGD008006 |
Craniofacial Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0406585 |
BXGD008353 |
Lethal tight skin contracture syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0410189 |
BXGD008413 |
Muscular Dystrophy, Emery-Dreifuss |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423757 |
BXGD008504 |
Thin skin |
|
| C0423808 |
BXGD008512 |
Brachyonychia |
|
| C0423823 |
BXGD008515 |
Thin nails |
Pathological Conditions, Signs and Symptoms |
| C0426433 |
BXGD008566 |
Pinched nasal tip |
|
| C0426799 |
BXGD008578 |
Congenital hypoplasia of clavicle |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0426807 |
BXGD008581 |
Short clavicle |
|
| C0426811 |
BXGD008583 |
Pseudoarthrosis of clavicle |
Wounds and Injuries |
| C0426818 |
BXGD008586 |
Thin rib |
|
| C0426900 |
BXGD008596 |
Tibial torsion |
|
| C0432073 |
BXGD008719 |
Defect of skull ossification |
|
| C0432103 |
BXGD008722 |
Submucous cleft of hard palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0432291 |
BXGD008767 |
Mandibuloacral dysostosis |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0432355 |
BXGD008780 |
Hypoplasia of nipple |
|
| C0456103 |
BXGD008866 |
Sepsis of the newborn |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections |
| C0456132 |
BXGD008869 |
Large fontanelle |
|
| C0565599 |
BXGD009488 |
Maternal hypertension |
Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases |
| C0566620 |
BXGD009490 |
Nasal voice |
|
| C0566693 |
BXGD009491 |
Large placenta |
|
| C0566694 |
BXGD009492 |
Small placenta |
|
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0575535 |
BXGD009520 |
Thin clavicle |
|
| C0575802 |
BXGD009521 |
Small hand |
|
| C0578038 |
BXGD009542 |
Thin lips |
|
| C0595939 |
BXGD009629 |
Stillbirth |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0836924 |
BXGD010864 |
Thrombocytosis |
Hemic and Lymphatic Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0854110 |
BXGD011000 |
Insulin-resistant diabetes mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0856747 |
BXGD011112 |
Aneurysm of ascending aorta |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C0856863 |
BXGD011122 |
Broad-based gait |
|
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0860439 |
BXGD011224 |
Mottled pigmentation |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0877165 |
BXGD011338 |
Short phalanx of finger |
|
| C0878660 |
BXGD011381 |
Proportionate short stature |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0917990 |
BXGD011424 |
Acro-Osteolysis |
Musculoskeletal Diseases |
| C1136321 |
BXGD011716 |
HIV-Associated Lipodystrophy Syndrome |
Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Immune System Diseases |
| C1280433 |
BXGD012125 |
Lipoatrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1456873 |
BXGD013129 |
alpha^+^ Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1561643 |
BXGD013363 |
Chronic Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1708272 |
BXGD013595 |
HIV lipodystrophy |
Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Immune System Diseases |
| C1720859 |
BXGD013688 |
Familial Partial Lipodystrophy, Type 1 |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1720860 |
BXGD013689 |
Familial Partial Lipodystrophy, Type 2 |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1720861 |
BXGD013690 |
Familial Partial Lipodystrophy, Type 3 |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1832446 |
BXGD013844 |
Sparse eyebrow |
|
| C1833325 |
BXGD013913 |
Thin bony cortex |
|
| C1833762 |
BXGD013945 |
Decreased calvarial ossification |
|
| C1834405 |
BXGD013970 |
Nail dysplasia |
Pathological Conditions, Signs and Symptoms |
| C1835384 |
BXGD014024 |
Loss of truncal subcutaneous adipose tissue |
|
| C1836646 |
BXGD014141 |
Dermal translucency |
|
| C1837142 |
BXGD014201 |
Poor suck |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837756 |
BXGD014263 |
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C1837757 |
BXGD014264 |
Progressive clavicular acroosteolysis |
Musculoskeletal Diseases |
| C1837758 |
BXGD014265 |
Bird-like facies |
|
| C1837761 |
BXGD014266 |
Narrow nasal ridge |
|
| C1837763 |
BXGD014267 |
Decreased adipose tissue around neck |
|
| C1837764 |
BXGD014268 |
Loss of subcutaneous adipose tissue in limbs |
|
| C1837767 |
BXGD014269 |
Loss of facial adipose tissue |
|
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1837792 |
BXGD014272 |
Insulin-resistant diabetes mellitus at puberty |
|
| C1839829 |
BXGD014413 |
Short distal phalanx of finger |
|
| C1843005 |
BXGD014548 |
Absent eyelashes |
|
| C1843300 |
BXGD014572 |
Sparse eyelashes |
|
| C1844618 |
BXGD014653 |
Aplasia/Hypoplastia of the eccrine sweat glands |
|
| C1846223 |
BXGD014792 |
Adrenal hypoplasia |
|
| C1846228 |
BXGD014793 |
Absence of pubertal development |
|
| C1846438 |
BXGD014816 |
Hypoplastic facial bones |
|
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1848760 |
BXGD014972 |
Increased anterioposterior diameter of thorax |
|
| C1848769 |
BXGD014973 |
Overtubulated long bones |
|
| C1848771 |
BXGD014974 |
Prominent superficial blood vessels |
Skin and Connective Tissue Diseases |
| C1848773 |
BXGD014975 |
Epidermal hyperkeratosis |
|
| C1849039 |
BXGD014999 |
Metaphyseal widening |
|
| C1849075 |
BXGD015002 |
Relative macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1849300 |
BXGD015032 |
Widely patent fontanelles and sutures |
|
| C1849547 |
BXGD015066 |
Osteolytic defects of the distal phalanges of the hand |
Musculoskeletal Diseases |
| C1851792 |
BXGD015234 |
Aplasia/Hypoplasia of the earlobes |
|
| C1851808 |
BXGD015237 |
Premature delivery because of cervical insufficiency or membrane fragility |
Female Urogenital Diseases and Pregnancy Complications |
| C1854114 |
BXGD015383 |
Short nose |
|
| C1855650 |
BXGD015521 |
Birth length less than 3rd percentile |
|
| C1855665 |
BXGD015524 |
Ovoid vertebral bodies |
|
| C1856542 |
BXGD015615 |
Prominent scalp veins |
|
| C1857042 |
BXGD015669 |
Sparse scalp hair |
|
| C1857276 |
BXGD015688 |
Trichohepatoenteric Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases |
| C1857665 |
BXGD015734 |
Aplastic clavicle |
|
| C1857710 |
BXGD015743 |
Progeroid facial appearance |
|
| C1857790 |
BXGD015748 |
Thoracic scoliosis |
Musculoskeletal Diseases |
| C1859592 |
BXGD015912 |
ATRICHIA WITH PAPULAR LESIONS |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1867114 |
BXGD016439 |
Craniofacial disproportion |
|
| C1867743 |
BXGD016470 |
Premature coronary artery atherosclerosis |
Cardiovascular Diseases |
| C1969913 |
BXGD016800 |
Generalized hyperkeratosis |
|
| C2062441 |
BXGD016897 |
Influenza A |
|
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2677180 |
BXGD017366 |
Congenital microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931375 |
BXGD018011 |
Temporomandibular ankylosis |
Musculoskeletal Diseases; Stomatognathic Diseases |
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3276815 |
BXGD018696 |
Stiff skin |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3279575 |
BXGD018764 |
Reticulated skin pigmentation |
|
| C3279947 |
BXGD018789 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
|
| C3551431 |
BXGD019147 |
Sparse or absent eyelashes |
|
| C3810018 |
BXGD019629 |
Bilateral coxa valga |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C3887524 |
BXGD019892 |
Skin Erosion |
Skin and Connective Tissue Diseases |
| C4015465 |
BXGD020208 |
Thoracic kyphoscoliosis |
|
| C4020957 |
BXGD020507 |
Abnormal trabecular bone morphology |
|
| C4021829 |
BXGD020810 |
Narrow nail |
|
| C4021956 |
BXGD020839 |
Aplasia/Hypoplasia of the eyebrow |
|
| C4021998 |
BXGD020862 |
Lack of skin elasticity |
|
| C4023402 |
BXGD021178 |
Regional abnormality of skin |
|
| C4023722 |
BXGD021253 |
Abnormality of hair texture |
|
| C4023965 |
BXGD021281 |
Structural foot deformity |
Musculoskeletal Diseases |
| C4024159 |
BXGD021292 |
Aplasia/Hypoplasia involving the nose |
|
| C4024993 |
BXGD021516 |
Aplasia/Hypoplasia of the clavicles |
|
| C4025078 |
BXGD021545 |
Tapering pointed ends of distal finger phalanges |
|
| C4025270 |
BXGD021613 |
Arteriosclerosis of small cerebral arteries |
Cardiovascular Diseases |
| C4025739 |
BXGD021768 |
Acroosteolysis of distal phalanges (feet) |
|
| C4073137 |
BXGD022045 |
Decreased serum testosterone level |
|
| C4281993 |
BXGD022418 |
Neonatal respiratory distress |
Respiratory Tract Diseases |
| C4282407 |
BXGD022423 |
Sparse and thin eyebrow |
|
| C4317112 |
BXGD022726 |
Generalized Lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C4476724 |
BXGD022854 |
Abnormal cellular phenotype |
|