| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001807 |
BXGD000077 |
Aggressive behavior |
Behavior and Behavior Mechanisms |
| C0003119 |
BXGD000177 |
Anophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0003130 |
BXGD000183 |
Anoxia |
Pathological Conditions, Signs and Symptoms |
| C0003466 |
BXGD000193 |
Anus, Imperforate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006144 |
BXGD000375 |
Breast Cyst |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006145 |
BXGD000376 |
Breast Diseases |
Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007133 |
BXGD000442 |
Carcinoma, Papillary |
Neoplasms |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008924 |
BXGD000574 |
Cleft upper lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System 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 |
| C0010495 |
BXGD000674 |
Cutis Laxa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| 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 |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye 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 |
| C0019569 |
BXGD001337 |
Hirschsprung Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023380 |
BXGD001640 |
Lethargy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0023882 |
BXGD001710 |
Little's Disease |
Nervous System Diseases |
| C0024003 |
BXGD001726 |
Lordosis |
Musculoskeletal Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034194 |
BXGD002472 |
Pyloric Stenosis |
Digestive System Diseases |
| C0034888 |
BXGD002492 |
Rectal Prolapse |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal 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 |
| C0036980 |
BXGD002649 |
Shock, Cardiogenic |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0037822 |
BXGD002706 |
Speech Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038271 |
BXGD002742 |
Stereotyped Behavior |
Behavior and Behavior Mechanisms |
| C0038273 |
BXGD002743 |
Stereotypic Movement Disorder |
Mental Disorders |
| C0039075 |
BXGD002788 |
Syndactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0039240 |
BXGD002804 |
Supraventricular tachycardia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0040427 |
BXGD002864 |
Tooth Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0040433 |
BXGD002865 |
Tooth Crowding |
Stomatognathic Diseases |
| C0040479 |
BXGD002870 |
Torsades de Pointes |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0040485 |
BXGD002871 |
Torticollis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042514 |
BXGD002989 |
Tachycardia, Ventricular |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0085271 |
BXGD003148 |
Self-Injurious Behavior |
Behavior and Behavior Mechanisms |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149630 |
BXGD003334 |
Bicuspid aortic valve |
Cardiovascular Diseases |
| C0151636 |
BXGD003451 |
Premature ventricular contractions |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152233 |
BXGD003565 |
Congenital ankyloblepharon |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0155299 |
BXGD003783 |
Coloboma of optic disc |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0158113 |
BXGD003875 |
Contracture of joint of hand |
Musculoskeletal Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206650 |
BXGD004214 |
Fibroadenoma |
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 |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0231688 |
BXGD004510 |
Gait, Shuffling |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0238397 |
BXGD004923 |
Pulmonary artery stenosis |
Cardiovascular Diseases |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0239174 |
BXGD004969 |
Late tooth eruption |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239998 |
BXGD005012 |
Recurrent infections |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases |
| C0240063 |
BXGD005015 |
Coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0240896 |
BXGD005059 |
Fundus coloboma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0262478 |
BXGD005248 |
Wrinkled face |
|
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266295 |
BXGD005645 |
Congenital hypoplasia of kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266544 |
BXGD005691 |
Microcornea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266551 |
BXGD005693 |
Congenital coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266589 |
BXGD005698 |
Congenital ear anomaly NOS (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases |
| C0277828 |
BXGD006480 |
Late fontanel closure |
|
| C0339182 |
BXGD007229 |
Ankyloblepharon |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0340803 |
BXGD007366 |
Capillary malformation (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423867 |
BXGD008517 |
Fine hair |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426440 |
BXGD008568 |
Large nostrils |
|
| C0426790 |
BXGD008577 |
Narrow thorax |
|
| C0426799 |
BXGD008578 |
Congenital hypoplasia of clavicle |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0426807 |
BXGD008581 |
Short clavicle |
|
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476217 |
BXGD008980 |
Head movements abnormal |
Nervous System Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0521620 |
BXGD009150 |
Dilatation of ureter |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0575484 |
BXGD009517 |
Long thorax |
|
| C0581342 |
BXGD009560 |
Redundant skin |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital 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 |
| C0694563 |
BXGD009854 |
Excessive daytime somnolence |
|
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0747085 |
BXGD010158 |
Recurrent otitis media |
Otorhinolaryngologic Diseases |
| C0796016 |
BXGD010779 |
Microphthalmia, syndromic 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C1184923 |
BXGD011800 |
Lumbar hyperlordosis |
Musculoskeletal Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1563705 |
BXGD013386 |
Nephrogenic Diabetes Insipidus, Type I |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1737329 |
BXGD013728 |
Dysmorphism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1834055 |
BXGD013953 |
Underdeveloped nasal alae |
|
| C1836189 |
BXGD014091 |
Radial deviation of finger |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1837731 |
BXGD014260 |
Overfolded helix |
|
| C1839546 |
BXGD014385 |
Microretrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1839797 |
BXGD014409 |
Deep philtrum |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1846423 |
BXGD014812 |
Thick upper lip vermilion |
|
| C1846460 |
BXGD014820 |
Abnormality of the outer ear |
|
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1849950 |
BXGD015092 |
Agenesis of maxillary lateral incisor |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1851710 |
BXGD015226 |
LATERAL MENINGOCELE SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1852504 |
BXGD015287 |
Misalignment of teeth |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1856872 |
BXGD015647 |
Down-sloping shoulders |
|
| C1857453 |
BXGD015703 |
Renal hypoplasia/aplasia |
|
| C1857479 |
BXGD015705 |
Short columella |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859442 |
BXGD015890 |
Minimal subcutaneous fat |
|
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1860224 |
BXGD015967 |
ABLEPHARON-MACROSTOMIA SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases |
| C1860816 |
BXGD016001 |
Preauricular skin tag |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1861866 |
BXGD016087 |
Aplasia/Hypoplasia of the corpus callosum |
|
| C1863753 |
BXGD016197 |
LIMB-MAMMARY SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1867131 |
BXGD016440 |
Broad hallux |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3275447 |
BXGD018668 |
Ogden syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3540764 |
BXGD019092 |
Coloboma of the Retina |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3554724 |
BXGD019237 |
Complete duplication of thumb phalanx |
|
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021637 |
BXGD020711 |
Abnormality of the nares |
|
| C4021792 |
BXGD020783 |
Abnormality of the clavicle |
|
| C4021813 |
BXGD020799 |
Oral cleft |
|
| C4021956 |
BXGD020839 |
Aplasia/Hypoplasia of the eyebrow |
|
| C4023698 |
BXGD021247 |
Everted upper lip vermilion |
|
| C4025659 |
BXGD021714 |
Abnormality of the shoulder |
|
| C4025810 |
BXGD021802 |
Abnormal palmar dermatoglyphics |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4072884 |
BXGD022009 |
Ciliary body coloboma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4282407 |
BXGD022423 |
Sparse and thin eyebrow |
|
| C4476868 |
BXGD022881 |
Palpebral thickening |
|
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|