| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0011053 |
BXGD000694 |
Deafness |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0011334 |
BXGD000716 |
Dental caries |
Stomatognathic Diseases |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0018524 |
BXGD001200 |
Hallucinations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018979 |
BXGD001260 |
Hemianopsia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0024440 |
BXGD001774 |
Macular Edema, Cystoid |
Eye Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0028077 |
BXGD002069 |
Nyctalopia |
Eye Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036454 |
BXGD002616 |
Scotoma |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0042571 |
BXGD002991 |
Vertigo |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0042798 |
BXGD003003 |
Low Vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0152459 |
BXGD003600 |
Linear atrophy |
Pathological Conditions, Signs and Symptoms |
| C0153676 |
BXGD003679 |
Secondary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0154860 |
BXGD003752 |
Hereditary retinal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0154920 |
BXGD003755 |
Pigmentary iris degeneration |
Eye Diseases; Skin and Connective Tissue Diseases |
| C0206586 |
BXGD004181 |
Endolymphatic Hydrops |
Otorhinolaryngologic Diseases |
| C0240340 |
BXGD005031 |
Microdontia (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0242383 |
BXGD005160 |
Age related macular degeneration |
Eye Diseases |
| C0266589 |
BXGD005698 |
Congenital ear anomaly NOS (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases |
| C0271097 |
BXGD006163 |
Usher Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0271215 |
BXGD006175 |
Blindness, Legal |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0271514 |
BXGD006207 |
Low frequency deafness |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0339527 |
BXGD007260 |
Leber Congenital Amaurosis |
Eye Diseases |
| C0339534 |
BXGD007262 |
Usher syndrome type 2 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0339543 |
BXGD007267 |
Epiretinal Membrane |
Eye Diseases |
| C0339789 |
BXGD007282 |
Congenital deafness |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0395973 |
BXGD008176 |
Recessive sensorineural hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0422943 |
BXGD008465 |
Visual symptoms |
|
| C0452138 |
BXGD008831 |
Sensorineural hearing loss, bilateral |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476397 |
BXGD008991 |
Electroretinogram abnormal |
|
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575090 |
BXGD009513 |
Equilibration disorder |
Nervous System Diseases |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0752166 |
BXGD010684 |
Bardet-Biedl Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C0859886 |
BXGD011203 |
Inherited hearing loss |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1568247 |
BXGD013418 |
Usher Syndrome, Type I |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1568248 |
BXGD013419 |
Usher Syndrome, Type III |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1568249 |
BXGD013420 |
Usher Syndrome, Type II |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1832187 |
BXGD013809 |
Deafness, Autosomal Dominant 12 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1832425 |
BXGD013842 |
Deafness, Autosomal Dominant 9 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1832475 |
BXGD013849 |
Deafness, Autosomal Dominant 11 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1838701 |
BXGD014338 |
DEAFNESS, AUTOSOMAL RECESSIVE 2 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1843156 |
BXGD014561 |
Progressive sensorineural hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1848606 |
BXGD014950 |
Vestibular hypofunction |
|
| C1848638 |
BXGD014952 |
USHER SYNDROME, TYPE IB (disorder) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1848639 |
BXGD014953 |
USHER SYNDROME, TYPE IA, FORMERLY |
|
| C1848640 |
BXGD014954 |
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY |
|
| C1848641 |
BXGD014955 |
Profound sensorineural hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1849265 |
BXGD015028 |
Overgrowth |
|
| C1852271 |
BXGD015268 |
Auditory neuropathy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1855465 |
BXGD015498 |
STARGARDT DISEASE 1 (disorder) |
|
| C1855685 |
BXGD015531 |
Undetectable electroretinogram |
|
| C1855925 |
BXGD015561 |
Hyperopia, High |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1865866 |
BXGD016345 |
Congenital sensorineural hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1866095 |
BXGD016372 |
Deafness, Autosomal Dominant 13 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1955603 |
BXGD016603 |
Deaf-Blind Disorders |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1955858 |
BXGD016609 |
Deaf-Blind Syndromes |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2732267 |
BXGD017551 |
Auditory neuropathy spectrum disorder |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C2931205 |
BXGD017977 |
Usher syndrome, type 1A |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C2931206 |
BXGD017978 |
Usher syndrome, type 1B |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C2931258 |
BXGD017991 |
Amaurosis congenita of Leber, type 1 |
Eye Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3665346 |
BXGD019278 |
Unspecified visual loss |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3665386 |
BXGD019284 |
Abnormal vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3668948 |
BXGD019321 |
Circling behavior |
|
| C3711374 |
BXGD019382 |
Nonsyndromic Deafness |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3887873 |
BXGD019922 |
Hearing Loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C4021800 |
BXGD020790 |
Abnormality of dental enamel |
|
| C4022757 |
BXGD020986 |
Moderate hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C4022758 |
BXGD020987 |
Mild hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C4023018 |
BXGD021068 |
Subcortical cerebral atrophy |
|
| C4023340 |
BXGD021157 |
Childhood onset sensorineural hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C4023551 |
BXGD021215 |
Abnormality of dental color |
|
| C4024656 |
BXGD021360 |
Absent vestibular function |
|
| C4025858 |
BXGD021832 |
Abnormal cochlea morphology |
|
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|