C0403554 |
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0454651 |
Specific language impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
C0751157 |
FRAXE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
C0751751 |
Argininosuccinic Acid Synthetase Deficiency, Complete
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
C0796003 |
Juberg-Marsidi syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0796195 |
Waisman syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
1 |
C1291607 |
Deficiency of maleylacetoacetate isomerase
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C1533587 |
Hydroxymethylglutaric aciduria
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C1704417 |
Hyperlipoproteinemia Type IIb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C1832388 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
|
1 |
C1832587 |
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
|
|
1 |
C1836892 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
|
|
1 |
C1837315 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
disease |
|
Finding
|
|
|
1 |
C1837750 |
Oligodontia-Colorectal Cancer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Stomatognathic Diseases
|
Neoplastic Process
|
|
|
1 |
C1838547 |
MELANOMA-PANCREATIC CANCER SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
1 |
C1845095 |
DEAFNESS, X-LINKED 5 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
|
1 |
C1845845 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
C1847501 |
Glut1 Deficiency Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C1849508 |
EPILEPSY, PYRIDOXINE-DEPENDENT
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
C1852271 |
Auditory neuropathy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
|
1 |
C1853144 |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
|
1 |
C1853892 |
Dimethylglycine Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C1854061 |
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
|
1 |
C1856061 |
Methylenetetrahydrofolate reductase deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
|
|
1 |
C1857252 |
2,4-Dienoyl-CoA Reductase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |