| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001807 |
BXGD000077 |
Aggressive behavior |
Behavior and Behavior Mechanisms |
| C0003492 |
BXGD000198 |
Aortic coarctation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0004943 |
BXGD000297 |
Behcet Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005944 |
BXGD000355 |
Metabolic Bone Disorder |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0006157 |
BXGD000377 |
Breech Presentation |
Female Urogenital Diseases and Pregnancy Complications |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008149 |
BXGD000520 |
Chlamydia Infections |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0008297 |
BXGD000522 |
Choanal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic 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 |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010054 |
BXGD000647 |
Coronary Arteriosclerosis |
Cardiovascular Diseases |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010964 |
BXGD000692 |
Dandy-Walker Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System 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 |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye 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 |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye 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 |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019569 |
BXGD001337 |
Hirschsprung Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020443 |
BXGD001385 |
Hypercholesterolemia |
Nutritional and Metabolic Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020557 |
BXGD001432 |
Hypertriglyceridemia |
Nutritional and Metabolic Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023890 |
BXGD001713 |
Liver Cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0025988 |
BXGD001883 |
Microglossia |
Stomatognathic Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0025995 |
BXGD001885 |
Micromelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026697 |
BXGD001918 |
Mucolipidoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027707 |
BXGD002024 |
Nephritis, Interstitial |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0034194 |
BXGD002472 |
Pyloric Stenosis |
Digestive System Diseases |
| C0035579 |
BXGD002560 |
Rickets |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036875 |
BXGD002640 |
Disorders of Sex Development |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040427 |
BXGD002864 |
Tooth Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0040433 |
BXGD002865 |
Tooth Crowding |
Stomatognathic Diseases |
| C0040457 |
BXGD002867 |
Tooth, Supernumerary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0040583 |
BXGD002878 |
Tracheal Stenosis |
Respiratory Tract Diseases |
| C0041349 |
BXGD002920 |
Nephritis, Tubulointerstitial |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042133 |
BXGD002960 |
Uterine Fibroids |
Neoplasms |
| C0042870 |
BXGD003008 |
Vitamin D Deficiency |
Nutritional and Metabolic Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0079541 |
BXGD003081 |
Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0079924 |
BXGD003103 |
Oligohydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0085271 |
BXGD003148 |
Self-Injurious Behavior |
Behavior and Behavior Mechanisms |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151718 |
BXGD003464 |
Hypocholesterolemia |
Nutritional and Metabolic Diseases |
| C0152237 |
BXGD003569 |
Talipes Calcaneovalgus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0152427 |
BXGD003590 |
Polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0175694 |
BXGD004002 |
Smith-Lemli-Opitz Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0202117 |
BXGD004074 |
Low density lipoprotein cholesterol measurement |
|
| C0202236 |
BXGD004086 |
Triglycerides measurement |
|
| C0206762 |
BXGD004290 |
Limb Deformities, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221210 |
BXGD004406 |
Congenital malrotation of intestine |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221373 |
BXGD004454 |
Claw hand |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0231679 |
BXGD004507 |
Ulnar deviation of the fingers |
|
| 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 |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| 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 |
| C0262586 |
BXGD005258 |
Osteopenia/osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0263401 |
BXGD005298 |
Cutis marmorata |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries |
| C0265267 |
BXGD005492 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0265706 |
BXGD005570 |
Gastroschisis |
Pathological Conditions, Signs and Symptoms; 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 |
| C0266054 |
BXGD005615 |
Premature tooth eruption |
|
| C0266111 |
BXGD005620 |
Bifid tongue |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266249 |
BXGD005635 |
Gallbladder anomaly congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0266294 |
BXGD005644 |
Unilateral agenesis of kidney |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266295 |
BXGD005645 |
Congenital hypoplasia of kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266313 |
BXGD005650 |
Allanson Pantzar McLeod syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266387 |
BXGD005661 |
Bicornuate uterus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266411 |
BXGD005664 |
Septate vagina |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266551 |
BXGD005693 |
Congenital coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266642 |
BXGD005705 |
Situs ambiguus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0268800 |
BXGD006041 |
Simple renal cyst |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0275524 |
BXGD006376 |
Coinfection |
Infections |
| C0282643 |
BXGD006822 |
Smith-Lemli-Opitz Syndrome, Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0282644 |
BXGD006823 |
Smith-Lemli-Opitz Syndrome, Type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0302142 |
BXGD006831 |
Deformity |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0338502 |
BXGD007192 |
Hypoplasia of the optic nerve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0341787 |
BXGD007422 |
Bifid scrotum |
|
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0349506 |
BXGD007912 |
Photosensitivity of skin |
Skin and Connective Tissue Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0376634 |
BXGD008006 |
Craniofacial Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0392482 |
BXGD008048 |
Common atrium |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0392885 |
BXGD008071 |
High density lipoprotein measurement |
|
| C0398739 |
BXGD008223 |
Congenital disorder of glycosylation, type 2C |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0400966 |
BXGD008266 |
Non-alcoholic Fatty Liver Disease |
Digestive System Diseases |
| C0406740 |
BXGD008368 |
Kohlschutter Tonz syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0424731 |
BXGD008542 |
Single transverse palmar crease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0428472 |
BXGD008630 |
Serum HDL cholesterol measurement |
|
| C0428474 |
BXGD008631 |
Serum LDL cholesterol measurement |
|
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0431659 |
BXGD008699 |
Hypoplasia of scrotum |
|
| C0431890 |
BXGD008712 |
Hypoplasia of thumb |
Musculoskeletal Diseases |
| C0431904 |
BXGD008713 |
Ulnar polydactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0432040 |
BXGD008715 |
Simple syndactyly of toes, first web space |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432333 |
BXGD008778 |
Abnormal dermatoglyphic pattern |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0521619 |
BXGD009149 |
Obstruction of pelviureteric junction |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0524910 |
BXGD009248 |
Hepatitis C, Chronic |
Digestive System Diseases; Infections |
| C0549306 |
BXGD009368 |
Mesomelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575897 |
BXGD009524 |
Thumb deformity |
Musculoskeletal Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0685695 |
BXGD009813 |
Abnormal lung lobation |
Respiratory Tract Diseases |
| C0694563 |
BXGD009854 |
Excessive daytime somnolence |
|
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0747085 |
BXGD010158 |
Recurrent otitis media |
Otorhinolaryngologic Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0860204 |
BXGD011219 |
Cholestatic liver disease |
Digestive System Diseases |
| C0878787 |
BXGD011392 |
Growth failure |
|
| C0920299 |
BXGD011465 |
Overriding toe |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1136179 |
BXGD011712 |
Hammer Toe |
Musculoskeletal Diseases |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1302790 |
BXGD012313 |
Congenital malformation syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1386048 |
BXGD012950 |
Intrauterine retardation |
|
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1389016 |
BXGD012962 |
ATRIOVENTRICULAR CANAL DEFECT |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1445957 |
BXGD013081 |
Serum total cholesterol measurement |
|
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1609433 |
BXGD013438 |
Congenital absence of kidneys syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1785148 |
BXGD013754 |
RAPP-HODGKIN SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1833362 |
BXGD013919 |
Sleep-wake cycle disturbance |
|
| C1836047 |
BXGD014074 |
Long face |
|
| C1836195 |
BXGD014094 |
Short toe |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836923 |
BXGD014178 |
Gastrointestinal dysmotility |
|
| C1836940 |
BXGD014182 |
Thickened nuchal skin fold |
|
| C1837142 |
BXGD014201 |
Poor suck |
|
| C1839326 |
BXGD014367 |
Abnormal form of the vertebral bodies |
|
| C1839546 |
BXGD014385 |
Microretrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1840069 |
BXGD014433 |
Sandal gap |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842083 |
BXGD014494 |
Abnormality of the ribs |
|
| C1844573 |
BXGD014646 |
Large earlobe |
|
| C1844605 |
BXGD014651 |
Periorbital wrinkles |
|
| C1844731 |
BXGD014669 |
Hypoplastic nasal tip |
|
| C1846421 |
BXGD014811 |
Lathosterolosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1849172 |
BXGD015019 |
Frontal lobe hypoplasia |
|
| C1849185 |
BXGD015020 |
Elevated 7-dehydrocholesterol |
|
| C1849186 |
BXGD015021 |
Severe photosensitivity |
Skin and Connective Tissue Diseases |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1849537 |
BXGD015063 |
Persistent open anterior fontanelle |
|
| C1853235 |
BXGD015318 |
Sclerocornea |
Eye Diseases |
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854418 |
BXGD015402 |
Biparietal narrowing |
|
| 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 |
| C1857278 |
BXGD015690 |
Partial or complete agenesis of corpus callosum |
|
| C1857453 |
BXGD015703 |
Renal hypoplasia/aplasia |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857500 |
BXGD015711 |
Broad alveolar ridges |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858545 |
BXGD015804 |
Facial capillary hemangioma |
Neoplasms |
| C1859126 |
BXGD015854 |
Stippled epiphyses |
|
| C1861866 |
BXGD016087 |
Aplasia/Hypoplasia of the corpus callosum |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865572 |
BXGD016331 |
Proximal placement of thumb |
|
| C1865596 |
BXGD016332 |
Desmosterolosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1866730 |
BXGD016419 |
Rhizomelia |
|
| C1868720 |
BXGD016531 |
Periventricular Nodular Heterotopia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1956257 |
BXGD016623 |
Pulmonary Stenosis |
Cardiovascular Diseases |
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2112129 |
BXGD016921 |
Postaxial foot polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2675111 |
BXGD017272 |
Abnormal eyelash morphology |
|
| C2677180 |
BXGD017366 |
Congenital microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2713347 |
BXGD017495 |
7-Dehydrocholesterol Reductase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C2717836 |
BXGD017510 |
Steroid Sulfatase Deficiency Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C2720163 |
BXGD017530 |
Placental Steroid Sulfatase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C2749463 |
BXGD017620 |
Aplasia/Hypoplasia of the radius |
|
| C2751532 |
BXGD017722 |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931867 |
BXGD018084 |
Dandy Walker cyst |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C3266731 |
BXGD018602 |
2-methyl-3-hydroxybutyric aciduria |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C3278401 |
BXGD018739 |
Hypopigmentation of hair |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3281160 |
BXGD018885 |
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 |
|
| C3495559 |
BXGD018994 |
Juvenile arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C3696376 |
BXGD019346 |
3-Methylglutaconic Aciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3714581 |
BXGD019415 |
Multicystic Dysplastic Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3887499 |
BXGD019884 |
Renal cyst |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C4020968 |
BXGD020516 |
Abnormal localization of kidney |
|
| C4021085 |
BXGD020544 |
Abnormality of brain morphology |
|
| C4021777 |
BXGD020773 |
Abnormality of the larynx |
|
| C4021785 |
BXGD020778 |
Abnormality of the metacarpal bones |
Musculoskeletal Diseases |
| C4021800 |
BXGD020790 |
Abnormality of dental enamel |
|
| C4023676 |
BXGD021237 |
Increased nuchal translucency |
Pathological Conditions, Signs and Symptoms |
| C4024202 |
BXGD021303 |
Reduced number of teeth |
|
| C4024745 |
BXGD021401 |
Aplasia/Hypoplasia affecting the eye |
|
| C4025158 |
BXGD021569 |
Rudimentary postaxial polydactyly of hands |
|
| C4082169 |
BXGD022084 |
Metatarsus Varus |
Musculoskeletal Diseases |
| C4266451 |
BXGD022319 |
Fetal abnormality |
|
| C4551570 |
BXGD023357 |
2-3 toe syndactyly |
|
| C4551905 |
BXGD023438 |
Pulmonary Venous Return Anomaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|