| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009363 |
BXGD000599 |
Congenital ocular coloboma (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0026034 |
BXGD001887 |
Microstomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0239479 |
BXGD004982 |
Round face |
|
| C0241726 |
BXGD005110 |
Delayed ability to walk |
|
| C0264306 |
BXGD005380 |
Laryngeal Obstruction |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0376175 |
BXGD007981 |
Bell Palsy |
Infections; Nervous System Diseases; Stomatognathic Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C1269683 |
BXGD012001 |
Major Depressive Disorder |
Mental Disorders |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1838391 |
BXGD014313 |
Limb hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1849265 |
BXGD015028 |
Overgrowth |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1853241 |
BXGD015321 |
Flat face |
|
| C1857479 |
BXGD015705 |
Short columella |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865244 |
BXGD016301 |
Shallow orbits |
Eye Diseases |
| C1866195 |
BXGD016385 |
Downturned corners of mouth |
|
| C2673410 |
BXGD017200 |
Small midface |
|
| C3163801 |
BXGD018517 |
Abnormality of aortic arch |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4310617 |
BXGD022599 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS |
|