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: C0477680
Disease: Adult osteomalacia, unspecified
Adult osteomalacia, unspecified 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0747739
Disease: polyglandular failure
polyglandular failure 		disease Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
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: C0037944
Disease: Spinal Stenosis
Spinal Stenosis 		disease Musculoskeletal Diseases Acquired Abnormality 6 0.010 None 1.000 1 2017 2017
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: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 10 4 0.020 None 1.000 2 1998 2015
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: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		disease Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases Neoplastic Process 12 7 0.040 None 1.000 4 1999 2017
CUI: C0745106
Disease: hyperparathyroid
hyperparathyroid 		disease Disease or Syndrome 14 0.010 None 1.000 1 2001 2001
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 14 0.010 None 1.000 1 2015 2015
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 14 13 0.010 None 1.000 1 2015 2015
CUI: C0006848
Disease: Mucocutaneous candidiasis
Mucocutaneous candidiasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 15 0.010 None 1.000 1 2006 2006
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: 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
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: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		disease Nervous System Diseases Disease or Syndrome 29 7 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: 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: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis 		disease Musculoskeletal Diseases Anatomical Abnormality 35 0.010 None 1.000 1 2017 2017
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: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		disease Neoplasms Neoplastic Process 63 18 0.010 None 1.000 1 2019 2019
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: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 65 11 0.020 None 1.000 2 2015 2019
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 65 1 0.020 None 0.500 2 2019 2019