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: 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: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		disease Nervous System Diseases Disease or Syndrome 29 7 0.010 None 1.000 1 2019 2019
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: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.010 None 1.000 1 2018 2018
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 95 3 0.010 None 1.000 1 2018 2018
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
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		disease Neoplasms Neoplastic Process 63 18 0.010 None 1.000 1 2019 2019
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: 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: 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: 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: 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: 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: 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: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.010 None 1.000 1 2020 2020
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: 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: 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: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.010 None 1.000 1 2018 2018
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: 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