C0337443 |
Sodium measurement
|
phenotype |
|
Laboratory Procedure
|
|
|
11 |
C0403553 |
Renal dysplasia and retinal aplasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
11 |
C0520572 |
Enzymopathy
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
11 |
C1449563 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
11 |
C1879645 |
Adverse Event by CTCAE Category
|
phenotype |
|
Finding
|
|
|
11 |
C4721541 |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
11 |
C0037773 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
10 |
C0079504 |
Hermanski-Pudlak Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
10 |
C0265275 |
Jeune thoracic dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease
|
|
10 |
C0282577 |
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
10 |
C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
10 |
C0038644 |
Sudden infant death syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
syndrome
|
|
9 |
C0152171 |
Idiopathic pulmonary hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
9 |
C0265338 |
Coffin-Siris syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
genetic disease; syndrome; disease of mental health
|
|
9 |
C1846142 |
HOYERAAL-HREIDARSSON SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
9 |
C4049702 |
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
|
|
9 |
C4087273 |
C3 glomerulopathy
|
disease |
|
Disease or Syndrome
|
|
|
9 |
C0206157 |
Myopathies, Nemaline
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
8 |
C0342482 |
X-linked Adrenal Hypoplasia
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
8 |
C0342573 |
PITUITARY DWARFISM I
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
8 |
C1142166 |
Brugada Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
8 |
C2677504 |
AUTISM, SUSCEPTIBILITY TO, 15
|
disease |
|
Finding
|
|
|
8 |
C4225275 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
8 |
C4317224 |
Congenital disorder of glycosylation type 1q
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
8 |
C0004138 |
Ataxias, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
7 |