| C0002514 |
BXGD000118 |
Amino Acid Metabolism, Inborn Errors |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0007959 |
BXGD000507 |
Charcot-Marie-Tooth Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0011195 |
BXGD000702 |
Dejerine-Sottas Disease (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0014852 |
BXGD000958 |
Esophageal Diseases |
Digestive System Diseases |
| C0020580 |
BXGD001435 |
Hypesthesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0023893 |
BXGD001716 |
Liver Cirrhosis, Experimental |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0027888 |
BXGD002056 |
Hereditary Motor and Sensory Neuropathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0029458 |
BXGD002158 |
Osteoporosis, Postmenopausal |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0205713 |
BXGD004114 |
Roussy-Levy Syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0268595 |
BXGD005999 |
Glutaric aciduria, type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0270914 |
BXGD006131 |
Hereditary Motor and Sensory-Neuropathy Type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0341106 |
BXGD007389 |
Eosinophilic esophagitis |
Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1408174 |
BXGD013034 |
Hypertrophic neuropathy of infancy |
|
| C1408182 |
BXGD013035 |
Hereditary motor and sensory neuropathy, types I-IV |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859817 |
BXGD015933 |
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA |
|
| C2733049 |
BXGD017561 |
Alpha ketoadipic aciduria |
|
| C2875300 |
BXGD017836 |
Peroneal muscular atrophy (axonal type) (hypertrophic type) |
|
| C3554366 |
BXGD019211 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q |
|
| C4538604 |
BXGD023222 |
Alpha-aminoadipic aciduria |
|