C1704380 |
Distal Renal Tubular Acidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
|
0 |
2 |
C0034341 |
Pyruvate Carboxylase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
0 |
1 |
C1838547 |
MELANOMA-PANCREATIC CANCER SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
0 |
1 |
C3150943 |
Long Qt Syndrome 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
226 |
C4551804 |
Brugada Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
217 |
C0019069 |
Hemophilia A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
198 |
C4551647 |
Long QT Syndrome 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
196 |
C0751434 |
Classical phenylketonuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
1 |
185 |
C4551549 |
Early Infantile Epileptic Encephalopathy 6
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
184 |
C0019202 |
Hepatolenticular Degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism; disease of anatomical entity
|
|
1 |
179 |
C1859062 |
LONG QT SYNDROME 3
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
141 |
C4746986 |
ALPORT SYNDROME 1, X-LINKED
|
disease |
|
Disease or Syndrome
|
genetic disease
|
|
1 |
131 |
C0010674 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
122 |
C0002986 |
Fabry Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of the integument; Abnormality of the cardiovascular system
|
1 |
117 |
C0268151 |
Classical galactosemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
115 |
C0268542 |
Ornithine carbamoyltransferase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
107 |
C1843013 |
Alzheimer disease, familial, type 3
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
100 |
C1333991 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
genetic disease
|
|
1 |
98 |
C0268450 |
Gitelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
95 |
C1961835 |
Gaucher Disease, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
95 |
C2930980 |
Malignant hyperthermia susceptibility type 1
|
disease |
Pathological Conditions, Signs and Symptoms
|
Finding
|
|
|
1 |
89 |
C2936783 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
genetic disease
|
|
1 |
84 |
C3179455 |
Niemann-Pick Disease, Type C1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
82 |
C0268338 |
Ehlers-Danlos Syndrome, Type IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
80 |
C0339510 |
Vitelliform Macular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
1 |
80 |