| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0004135 |
BXGD000257 |
Ataxia Telangiectasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| 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 |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0018564 |
BXGD001204 |
Hand deformities |
Musculoskeletal Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0020302 |
BXGD001373 |
Hydrophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0020305 |
BXGD001374 |
Hydrops Fetalis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0020678 |
BXGD001463 |
Hypotrichosis |
Skin and Connective Tissue Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0024003 |
BXGD001726 |
Lordosis |
Musculoskeletal Diseases |
| C0025995 |
BXGD001885 |
Micromelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0026034 |
BXGD001887 |
Microstomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0026760 |
BXGD001927 |
Multiple Epiphyseal Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0038015 |
BXGD002726 |
Spondyloepiphyseal Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0040053 |
BXGD002839 |
Thrombosis |
Cardiovascular Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0152235 |
BXGD003567 |
Congenital genu recurvatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0158486 |
BXGD003888 |
Acquired genu recurvatum |
Musculoskeletal Diseases |
| C0158761 |
BXGD003905 |
Radioulnar Synostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0220633 |
BXGD004303 |
Uveal melanoma |
Neoplasms; Eye Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0231712 |
BXGD004519 |
Waddling gait |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239137 |
BXGD004965 |
Coxa valga |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0239138 |
BXGD004966 |
Hip joint varus deformity - observation |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0239479 |
BXGD004982 |
Round face |
|
| C0241136 |
BXGD005079 |
Pain of skin |
Pathological Conditions, Signs and Symptoms |
| C0270921 |
BXGD006133 |
Axonal neuropathy |
Nervous System Diseases |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0343284 |
BXGD007613 |
Chondrodysplasia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0392476 |
BXGD008046 |
Epiphyseal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0426790 |
BXGD008577 |
Narrow thorax |
|
| C0432242 |
BXGD008752 |
Desbuquois syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0542514 |
BXGD009277 |
Blue sclera |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0544755 |
BXGD009310 |
Genu varum |
Musculoskeletal Diseases |
| C0545053 |
BXGD009323 |
Advanced bone age |
|
| C0546964 |
BXGD009348 |
Genu recurvatum |
|
| C0575802 |
BXGD009521 |
Small hand |
|
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0878659 |
BXGD011380 |
Disproportionate short stature |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1836184 |
BXGD014088 |
Short femoral neck |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837218 |
BXGD014207 |
Cleft palate, isolated |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1837485 |
BXGD014239 |
Flat acetabular roof |
|
| C1839546 |
BXGD014385 |
Microretrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1840069 |
BXGD014433 |
Sandal gap |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1844704 |
BXGD014665 |
Platyspondyly |
|
| C1844887 |
BXGD014690 |
Catel Manzke syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1846803 |
BXGD014840 |
Small epiphyses |
|
| C1849016 |
BXGD014995 |
Broad femoral neck |
|
| C1849020 |
BXGD014996 |
Short metatarsal |
|
| C1849039 |
BXGD014999 |
Metaphyseal widening |
|
| C1849292 |
BXGD015029 |
Advanced ossification of carpal bones |
|
| C1849293 |
BXGD015030 |
Advanced tarsal ossification |
|
| C1849311 |
BXGD015034 |
Short 1st metacarpal |
|
| C1849937 |
BXGD015091 |
Disproportionate short-limb short stature |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853761 |
BXGD015359 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1855899 |
BXGD015558 |
Broad first metatarsal |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857527 |
BXGD015714 |
Flattened epiphysis |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1860162 |
BXGD015960 |
Bifid distal phalanx of the thumb |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1865186 |
BXGD016296 |
Bell-shaped thorax |
|
| C2673394 |
BXGD017196 |
Radioulnar dislocation |
|
| C2673395 |
BXGD017197 |
Proximal fibular overgrowth |
|
| C2673396 |
BXGD017198 |
Phalangeal dislocation |
Musculoskeletal Diseases; Wounds and Injuries |
| C2673401 |
BXGD017199 |
Medial deviation of the foot |
Musculoskeletal Diseases |
| C2675111 |
BXGD017272 |
Abnormal eyelash morphology |
|
| C2745959 |
BXGD017570 |
Spondyloepiphyseal dysplasia, congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2981140 |
BXGD018209 |
Glaucoma of childhood |
Eye Diseases |
| C2981150 |
BXGD018211 |
Uranostaphyloschisis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3150077 |
BXGD018291 |
Mild short stature |
|
| C3279757 |
BXGD018778 |
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE |
|
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4012146 |
BXGD020119 |
DESBUQUOIS DYSPLASIA 1 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C4021337 |
BXGD020612 |
Partial duplication of the distal phalanx of the hallux |
|
| C4023909 |
BXGD021272 |
Aplasia/Hypoplasia of the abdominal wall musculature |
|
| C4025814 |
BXGD021806 |
Abnormality of the metaphysis |
|
| C4540251 |
BXGD023247 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 |
|
| C4707307 |
BXGD023714 |
Spinocerebellar ataxia with axonal neuropathy type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |