| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002902 |
BXGD000154 |
Anencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0003119 |
BXGD000177 |
Anophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0003466 |
BXGD000193 |
Anus, Imperforate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0008497 |
BXGD000549 |
Choriocarcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic 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 |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| 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 |
| 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 |
| C0018816 |
BXGD001234 |
Heart Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019284 |
BXGD001312 |
Diaphragmatic Hernia |
Pathological Conditions, Signs and Symptoms |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0024236 |
BXGD001752 |
Lymphedema |
Hemic and Lymphatic Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| 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 |
| C0025363 |
BXGD001867 |
Mental Retardation, Psychosocial |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| 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 |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026760 |
BXGD001927 |
Multiple Epiphyseal Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026850 |
BXGD001942 |
Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0034895 |
BXGD002493 |
Rectovaginal Fistula |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications |
| 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 |
| C0039070 |
BXGD002787 |
Syncope |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0039075 |
BXGD002788 |
Syndactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0078981 |
BXGD003059 |
Arachnoid Cysts |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0078982 |
BXGD003060 |
Arhinencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151891 |
BXGD003499 |
Retinal depigmentation |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases |
| C0152427 |
BXGD003590 |
Polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0158733 |
BXGD003903 |
Hand polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0158734 |
BXGD003904 |
Polydactyly of toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0205851 |
BXGD004132 |
Germ cell tumor |
Neoplasms |
| C0220697 |
BXGD004324 |
POLYDACTYLY, POSTAXIAL |
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 |
| 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 |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241240 |
BXGD005089 |
Tall stature |
|
| C0241397 |
BXGD005095 |
Triphalangeal thumb |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0241438 |
BXGD005098 |
Tongue nodules |
|
| C0264303 |
BXGD005379 |
Laryngomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265660 |
BXGD005561 |
Syndactyly of the toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265766 |
BXGD005573 |
Congenital atresia of trachea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0266383 |
BXGD005660 |
Uterine Anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266617 |
BXGD005700 |
Congenital anomaly of face |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0281842 |
BXGD006787 |
Abnormality of the fallopian tube |
|
| C0338502 |
BXGD007192 |
Hypoplasia of the optic nerve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0342418 |
BXGD007478 |
Hypothalamic hamartomas |
Neoplasms; Nervous System Diseases |
| C0345354 |
BXGD007728 |
Radial polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0392006 |
BXGD008025 |
Unilateral cleft lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0392514 |
BXGD008051 |
Hereditary hemochromatosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0426489 |
BXGD008569 |
Gingival cleft |
Stomatognathic Diseases |
| C0431371 |
BXGD008676 |
Absence of septum pellucidum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431384 |
BXGD008681 |
Colpocephaly |
Nervous System Diseases |
| C0431399 |
BXGD008684 |
Familial aplasia of the vermis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases |
| C0431564 |
BXGD008694 |
Lobulated tongue |
|
| C0431565 |
BXGD008695 |
Hamartoma of tongue |
Neoplasms; Stomatognathic Diseases |
| C0431663 |
BXGD008700 |
Bilateral Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0431904 |
BXGD008713 |
Ulnar polydactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432103 |
BXGD008722 |
Submucous cleft of hard palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0497202 |
BXGD009055 |
Abnormal ocular motility |
|
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0677886 |
BXGD009734 |
Epithelial ovarian cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0796147 |
BXGD010803 |
Acrocallosal Syndrome |
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 |
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0917816 |
BXGD011419 |
Mental deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1135868 |
BXGD011700 |
Gestational Trophoblastic Neoplasms |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1395852 |
BXGD012991 |
Polydactyly preaxial type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| 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 |
| C1836047 |
BXGD014074 |
Long face |
|
| C1837218 |
BXGD014207 |
Cleft palate, isolated |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1837249 |
BXGD014210 |
Malformations of Cortical Development, Group II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1840379 |
BXGD014459 |
Cerebellar vermis hypoplasia |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1846722 |
BXGD014837 |
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1848595 |
BXGD014946 |
Mesoaxial polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1848597 |
BXGD014947 |
Central Y-shaped metacarpal |
|
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1849341 |
BXGD015040 |
Triangular mouth |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1851853 |
BXGD015243 |
Midline notch of upper alveolar ridge |
|
| C1853737 |
BXGD015356 |
Prominent occiput |
|
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1854418 |
BXGD015402 |
Biparietal narrowing |
|
| C1856016 |
BXGD015563 |
HYDROLETHALUS SYNDROME 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1856655 |
BXGD015627 |
Hypoplasia of olfactory tract |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1860162 |
BXGD015960 |
Bifid distal phalanx of the thumb |
|
| C1860164 |
BXGD015961 |
Duplication of phalanx of hallux |
|
| C1860165 |
BXGD015962 |
Pulmonary valve defects |
|
| C1860816 |
BXGD016001 |
Preauricular skin tag |
|
| C1861866 |
BXGD016087 |
Aplasia/Hypoplasia of the corpus callosum |
|
| C1865060 |
BXGD016292 |
Molar tooth sign on MRI |
|
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1868571 |
BXGD016508 |
Highly arched eyebrow |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2112129 |
BXGD016921 |
Postaxial foot polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2112942 |
BXGD016923 |
Preaxial foot polydactyly |
|
| C2243051 |
BXGD017008 |
Large head (disorder) |
|
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2681923 |
BXGD017424 |
RETINITIS PIGMENTOSA 2 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C2745997 |
BXGD017572 |
OROFACIODIGITAL SYNDROME VI |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931104 |
BXGD017957 |
Hydrolethalus syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C2931618 |
BXGD018040 |
Gestational trophoblastic disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C2931760 |
BXGD018059 |
Acrocallosal syndrome, Schinzel type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2936862 |
BXGD018148 |
Bardet-Biedl syndrome 1 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C2981150 |
BXGD018211 |
Uranostaphyloschisis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3164374 |
BXGD018527 |
Abnormality of pulmonary valve |
|
| C3277723 |
BXGD018721 |
JOUBERT SYNDROME 12 |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3279899 |
BXGD018785 |
Hydrolethalus Syndrome 2 |
|
| C3280899 |
BXGD018870 |
JOUBERT SYNDROME 12/15, DIGENIC |
|
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806218 |
BXGD019500 |
Episodic tachypnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C4021370 |
BXGD020616 |
Duplication of thumb phalanx |
|
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4021655 |
BXGD020723 |
Abnormality of the sense of smell |
|
| C4021780 |
BXGD020775 |
Abnormality of the liver |
|
| C4021792 |
BXGD020783 |
Abnormality of the clavicle |
|
| C4022738 |
BXGD020974 |
Neurodevelopmental delay |
|
| C4025881 |
BXGD021842 |
Abnormal oral frenulum morphology |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551488 |
BXGD023314 |
Bifid uvula |
|
| C4551584 |
BXGD023362 |
Brain atrophy |
Nervous System Diseases |
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |