| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0003486 |
BXGD000197 |
Aortic Aneurysm |
Cardiovascular Diseases |
| C0003706 |
BXGD000215 |
Arachnodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005941 |
BXGD000353 |
Bone Diseases, Developmental |
Musculoskeletal 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 |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011981 |
BXGD000764 |
Diaphragmatic Eventration |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive 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 |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016506 |
BXGD001062 |
Foot Deformities |
Musculoskeletal Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0018777 |
BXGD001217 |
Conductive hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0024591 |
BXGD001789 |
Malignant hyperpyrexia due to anesthesia |
Pathological Conditions, Signs and Symptoms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System 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 |
| C0027960 |
BXGD002062 |
Nevus |
Neoplasms |
| C0028043 |
BXGD002066 |
Nicotine Dependence |
Chemically-Induced Disorders; Mental Disorders |
| C0031117 |
BXGD002285 |
Peripheral Neuropathy |
Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033999 |
BXGD002448 |
Pterygium |
Eye Diseases |
| C0034951 |
BXGD002498 |
Refractive Errors |
Eye Diseases |
| C0035220 |
BXGD002512 |
Respiratory Distress Syndrome, Newborn |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| 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 |
| C0080174 |
BXGD003106 |
Spina Bifida Occulta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0085623 |
BXGD003210 |
Akinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152237 |
BXGD003569 |
Talipes Calcaneovalgus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0155411 |
BXGD003792 |
Exostosis of external ear canal |
Musculoskeletal Diseases |
| C0206620 |
BXGD004187 |
Lymphangioma, Cystic |
Neoplasms |
| C0221217 |
BXGD004408 |
Neck webbing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239594 |
BXGD004987 |
Short finger |
|
| 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 |
| C0265261 |
BXGD005489 |
Multiple pterygium syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0265563 |
BXGD005550 |
Congenital dislocation of radial head |
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 |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266623 |
BXGD005702 |
Congenital anomaly of neck |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0426808 |
BXGD008582 |
Long clavicle |
|
| C0426818 |
BXGD008586 |
Thin rib |
|
| C0431659 |
BXGD008699 |
Hypoplasia of scrotum |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432163 |
BXGD008729 |
Defect of vertebral segmentation |
Musculoskeletal Diseases |
| C0432185 |
BXGD008730 |
Aplasia of muscle |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0432355 |
BXGD008780 |
Hypoplasia of nipple |
|
| C0497552 |
BXGD009067 |
Congenital neurologic anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0751882 |
BXGD010626 |
Myasthenic Syndromes, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0751883 |
BXGD010627 |
Congenital Myasthenic Syndromes, Postsynaptic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0751884 |
BXGD010628 |
Congenital Myasthenic Syndromes, Presynaptic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0751885 |
BXGD010629 |
Myasthenic Syndromes, Congenital, Slow Channel |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0878638 |
BXGD011378 |
Abnormality of the tongue |
|
| C0947912 |
BXGD011497 |
Myasthenias |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1276035 |
BXGD012100 |
Pena-Shokeir syndrome type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1306710 |
BXGD012372 |
Facial asymmetry |
Pathological Conditions, Signs and Symptoms |
| C1390474 |
BXGD012969 |
Increased susceptibility to fractures |
|
| C1836047 |
BXGD014074 |
Long face |
|
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1844505 |
BXGD014633 |
Pointed chin |
|
| C1844548 |
BXGD014642 |
Hypoplastic finger |
|
| C1844738 |
BXGD014671 |
Axillary pterygium |
Eye Diseases |
| C1849575 |
BXGD015068 |
Absence of labia majora |
|
| C1849577 |
BXGD015069 |
Neck pterygia |
Eye Diseases |
| C1849579 |
BXGD015070 |
Anterior clefting of vertebral bodies |
|
| C1849580 |
BXGD015071 |
Dysplastic patella |
|
| C1854678 |
BXGD015420 |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C1855728 |
BXGD015536 |
Low posterior hairline |
|
| C1857108 |
BXGD015677 |
Limitation of joint mobility |
|
| C1862941 |
BXGD016145 |
Amyotrophic Lateral Sclerosis, Sporadic |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1866195 |
BXGD016385 |
Downturned corners of mouth |
|
| C1867439 |
BXGD016454 |
Pterygium, Antecubital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1867441 |
BXGD016455 |
Pterygium Of Conjunctiva And Cornea |
Eye Diseases |
| C1867448 |
BXGD016456 |
Multiple pterygia |
Eye Diseases |
| C1868578 |
BXGD016510 |
Patellar aplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3151523 |
BXGD018440 |
Abnormal cervical curvature |
|
| C3151525 |
BXGD018441 |
Hypoplastic heart |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C3164445 |
BXGD018529 |
Abnormality of aortic valve |
|
| C3278509 |
BXGD018742 |
Spinal fusion |
|
| C3805420 |
BXGD019478 |
Popliteal pterygium |
Eye Diseases |
| C3810471 |
BXGD019658 |
Intercrural pterygium |
Eye Diseases |
| C3887527 |
BXGD019894 |
Fused cervical vertebrae |
|
| C4021073 |
BXGD020541 |
Morphological abnormality of the gastrointestinal tract |
|
| C4021390 |
BXGD020622 |
Symphalangism affecting the phalanges of the hand |
|
| C4021774 |
BXGD020770 |
Camptodactyly of toe |
|
| C4021830 |
BXGD020811 |
Bilateral camptodactyly |
|
| C4023909 |
BXGD021272 |
Aplasia/Hypoplasia of the abdominal wall musculature |
|
| C4024737 |
BXGD021397 |
Aplasia/Hypoplasia of the skin |
|
| C4025843 |
BXGD021823 |
Abnormality of refraction |
|
| C4281993 |
BXGD022418 |
Neonatal respiratory distress |
Respiratory Tract Diseases |
| C4520843 |
BXGD023043 |
Pterygium of eye |
Eye Diseases |
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|