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: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.010 None 1.000 1 2013 2013
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.010 None 1.000 1 2013 2013
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.010 None 1.000 1 2018 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease Neoplasms Neoplastic Process 165 36 0.010 None 1.000 1 2013 2013
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 34 4 0.010 None 1.000 1 2018 2018
CUI: C0037944
Disease: Spinal Stenosis
Spinal Stenosis 		disease Musculoskeletal Diseases Acquired Abnormality 6 0.010 None 1.000 1 2017 2017
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2018 2018
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 64 76 0.010 None 1.000 1 2007 2007
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 379 56 0.010 None 1.000 1 2015 2015
CUI: C0149911
Disease: Humoral hypercalcemia of malignancy (disorder)
Humoral hypercalcemia of malignancy (disorder) 		disease Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 26 0.010 None 1.000 1 1995 1995
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 81 3 0.010 None 1.000 1 2018 2018
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: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 0.010 None 1.000 1 2007 2007
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.010 None 1.000 1 2018 2018
CUI: C0271858
Disease: Tertiary hyperparathyroidism
Tertiary hyperparathyroidism 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2001 2001
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 77 32 0.010 None 1.000 1 2008 2008
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease Nutritional and Metabolic Diseases Disease or Syndrome 46 58 0.010 None 1.000 1 2015 2015
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 48 138 0.010 None 1.000 1 2013 2013
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: C0477680
Disease: Adult osteomalacia, unspecified
Adult osteomalacia, unspecified 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.010 None 1.000 1 2018 2018
CUI: C0745106
Disease: hyperparathyroid
hyperparathyroid 		disease Disease or Syndrome 14 0.010 None 1.000 1 2001 2001
CUI: C0747739
Disease: polyglandular failure
polyglandular failure 		disease Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.010 None 1.000 1 2019 2019