HPT, hypoparathyroidism, 3258

N. diseases: 71; N. variants: 0
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.010 None 1.000 1 2009 2009
CUI: C0477680
Disease: Adult osteomalacia, unspecified
Adult osteomalacia, unspecified
disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy
disease Nervous System Diseases Disease or Syndrome 29 7 0.010 None 1.000 1 2019 2019
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 17 9 0.020 None 1.000 2 2018 2019
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
group Neoplasms Neoplastic Process 371 7 0.010 None 1.000 1 2014 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.010 None 1.000 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.010 None 1.000 1 2019 2019
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
group Musculoskeletal Diseases Disease or Syndrome 317 10 0.010 None 1.000 1 2001 2001
CUI: C0006309
Disease: Brucellosis
Brucellosis
disease Infections Disease or Syndrome 92 30 0.010 None 1.000 1 2019 2019
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 31 3 0.010 None 1.000 1 2006 2006
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.010 None 1.000 1 2017 2017
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 114 7 0.010 None 1.000 1 2007 2007
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 144 19 0.010 None 1.000 1 2018 2018
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 72 1 0.010 None 1.000 1 2011 2011
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 2018 2018
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder)
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 2019 2019
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 24 35 0.010 None 1.000 1 2015 2015
Familial Isolated Hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 10 4 0.020 None 1.000 2 1998 2015
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.010 None 1.000 1 2020 2020
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.010 None 1.000 1 2007 2007
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm
disease Neoplasms Neoplastic Process 63 18 0.010 None 1.000 1 2019 2019
Humoral hypercalcemia of malignancy (disorder)
disease Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 26 0.010 None 1.000 1 1995 1995
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.010 None 1.000 1 2013 2013
CUI: C0745106
Disease: hyperparathyroid
hyperparathyroid
disease Disease or Syndrome 14 0.010 None 1.000 1 2001 2001
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 111 14 0.030 None 1.000 3 2013 2015