C3711374 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
|
77 |
C1708353 |
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
|
|
23 |
C1843181 |
Noonan syndrome-like disorder with loose anagen hair
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
|
|
19 |
C3501846 |
Noonan-Like Syndrome With Loose Anagen Hair
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
|
|
19 |
C3501611 |
Mental Retardation, X-Linked Nonsyndromic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
|
|
13 |
C0265325 |
Turcot syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
|
|
4 |
C4321324 |
Constitutional Mismatch Repair Deficiency Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
|
|
4 |
C0265253 |
Stickler syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
3 |
C0003886 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
|
2 |
C3179349 |
Gastrointestinal Stromal Sarcoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
|
|
2 |
C3888631 |
Monogenic diabetes
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
2 |
C0220711 |
Long chain acyl-CoA dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0265241 |
Franceschetti-Klein syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
C0265265 |
Aase syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0268531 |
Hydroxyprolinemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
1 |
C0268543 |
Hyperammonemia, type III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
C0268563 |
Sarcosinemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
1 |
C0268601 |
HMG CoA lyase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0268621 |
Hepatic methionine adenosyltransferase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0272327 |
Hereditary factor X deficiency disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0342738 |
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0342791 |
Carnitine-Acylcarnitine Translocase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0342793 |
Malonic aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0398621 |
Hypoplasminogenemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
|
1 |
C0398746 |
Gluthathione synthetase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
1 |