| C0001403 |
BXGD000048 |
Addison Disease |
Immune System Diseases; Endocrine System Diseases |
| C0001623 |
BXGD000066 |
Adrenal gland hypofunction |
Endocrine System Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye 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 |
| 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 |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital 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 |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| 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 |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018798 |
BXGD001223 |
Congenital Heart Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| 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 |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0022346 |
BXGD001537 |
Icterus |
Pathological Conditions, Signs and Symptoms |
| C0022680 |
BXGD001576 |
Polycystic Kidney Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024523 |
BXGD001781 |
Malabsorption Syndrome |
Digestive System Diseases; Nutritional and Metabolic Diseases |
| 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 |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0028077 |
BXGD002069 |
Nyctalopia |
Eye Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029422 |
BXGD002142 |
Osteochondrodysplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0030044 |
BXGD002186 |
Acrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0031117 |
BXGD002285 |
Peripheral Neuropathy |
Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034194 |
BXGD002472 |
Pyloric Stenosis |
Digestive System Diseases |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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 |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039239 |
BXGD002803 |
Sinus Tachycardia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0039273 |
BXGD002806 |
Talipes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0043459 |
BXGD003048 |
Zellweger Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151313 |
BXGD003413 |
Sensory neuropathy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0158113 |
BXGD003875 |
Contracture of joint of hand |
Musculoskeletal Diseases |
| C0158465 |
BXGD003887 |
Acquired cubitus valgus |
|
| C0162285 |
BXGD003928 |
Edema of eyelid |
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular 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 |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0234146 |
BXGD004626 |
Absent reflex |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235095 |
BXGD004723 |
Visual field constriction |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0238621 |
BXGD004947 |
Aminoaciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0239138 |
BXGD004966 |
Hip joint varus deformity - observation |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240421 |
BXGD005037 |
Progressive muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266589 |
BXGD005698 |
Congenital ear anomaly NOS (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases |
| C0271386 |
BXGD006194 |
Vertical Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0282525 |
BXGD006809 |
Adrenoleukodystrophy, Neonatal |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0282527 |
BXGD006811 |
Infantile Refsum Disease (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0282528 |
BXGD006812 |
Peroxisomal Disorders |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0282529 |
BXGD006813 |
Chondrodysplasia Punctata, Rhizomelic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0339573 |
BXGD007271 |
Glaucoma, Primary Open Angle |
Eye Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0410528 |
BXGD008430 |
Skeletal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423250 |
BXGD008476 |
Corneal stromal opacities |
Eye Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0424731 |
BXGD008542 |
Single transverse palmar crease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0456132 |
BXGD008869 |
Large fontanelle |
|
| C0524582 |
BXGD009231 |
Mulibrey Nanism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0546967 |
BXGD009349 |
Posterior embryotoxon |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0595921 |
BXGD009626 |
Intraocular pressure disorder |
Eye Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0685891 |
BXGD009824 |
Congenital hypoplasia of thymus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0856863 |
BXGD011122 |
Broad-based gait |
|
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0878638 |
BXGD011378 |
Abnormality of the tongue |
|
| C1262477 |
BXGD011882 |
Weight decreased |
Pathological Conditions, Signs and Symptoms |
| C1303007 |
BXGD012319 |
Brushfield spots |
|
| C1389113 |
BXGD012965 |
Generalized amyotrophy |
|
| C1832200 |
BXGD013810 |
Peroxisome biogenesis disorders |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1836184 |
BXGD014088 |
Short femoral neck |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1836940 |
BXGD014182 |
Thickened nuchal skin fold |
|
| C1837082 |
BXGD014194 |
Metaphyseal cupping |
|
| C1837142 |
BXGD014201 |
Poor suck |
|
| C1837249 |
BXGD014210 |
Malformations of Cortical Development, Group II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1837402 |
BXGD014228 |
Flat occiput |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1838662 |
BXGD014334 |
Metaphyseal irregularity |
|
| C1839630 |
BXGD014391 |
Severe muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1843392 |
BXGD014582 |
Death in childhood |
|
| C1846460 |
BXGD014820 |
Abnormality of the outer ear |
|
| C1846821 |
BXGD014841 |
Abnormality of coagulation |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1853241 |
BXGD015321 |
Flat face |
|
| C1856660 |
BXGD015629 |
Abnormality of the helix |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857790 |
BXGD015748 |
Thoracic scoliosis |
Musculoskeletal Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858430 |
BXGD015792 |
Death in infancy |
|
| C1859126 |
BXGD015854 |
Stippled epiphyses |
|
| C1859133 |
BXGD015855 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C1859235 |
BXGD015866 |
Intrahepatic biliary dysgenesis |
|
| C1861869 |
BXGD016088 |
Underdeveloped supraorbital ridges |
|
| C1862095 |
BXGD016100 |
Bilateral single transverse palmar creases |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1866934 |
BXGD016427 |
Reduced tendon reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1963165 |
BXGD016685 |
Malabsorption, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2025392 |
BXGD016883 |
Polar cataract |
Eye Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2676026 |
BXGD017321 |
Optic nerve dysplasia |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3279397 |
BXGD018755 |
Very long chain fatty acid accumulation |
|
| C3550234 |
BXGD019133 |
PEROXISOME BIOGENESIS DISORDER 2B |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3550273 |
BXGD019134 |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3550693 |
BXGD019136 |
PEROXISOME BIOGENESIS DISORDER 3B |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3553450 |
BXGD019175 |
Profound global developmental delay |
|
| C3658299 |
BXGD019258 |
Zellweger Spectrum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714581 |
BXGD019415 |
Multicystic Dysplastic Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3714745 |
BXGD019427 |
Malabsorption |
Digestive System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4021780 |
BXGD020775 |
Abnormality of the liver |
|
| C4021815 |
BXGD020801 |
Abnormal palate morphology |
|
| C4023042 |
BXGD021081 |
Abnormality of the mitochondrion |
|
| C4023786 |
BXGD021261 |
Elevated levels of phytanic acid |
|
| C4025679 |
BXGD021728 |
Stippled chondral calcification |
|
| C4025844 |
BXGD021824 |
Abnormal chorioretinal morphology |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4082169 |
BXGD022084 |
Metatarsus Varus |
Musculoskeletal Diseases |
| C4225237 |
BXGD022185 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 |
|
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4721541 |
BXGD023753 |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases |