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: C4284088
Disease: MIRAGE SYNDROME
MIRAGE SYNDROME 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 4 0.010 None 1.000 1 2020 2020
CUI: C0221405
Disease: Pituitary cachexia
Pituitary cachexia 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 8 0.200 None 0
CUI: C0271577
Disease: Isolated gonadotropin deficiency
Isolated gonadotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 8 0.200 None 0
CUI: C2874188
Disease: Isolated deficiency of pituitary hormone
Isolated deficiency of pituitary hormone 		disease Disease or Syndrome 8 0.200 None 0
CUI: C2874189
Disease: Necrosis of pituitary gland (postpartum)
Necrosis of pituitary gland (postpartum) 		phenotype Pathologic Function 8 0.200 None 0
CUI: C2874190
Disease: Pituitary short stature
Pituitary short stature 		disease Disease or Syndrome 8 0.200 None 0
CUI: C4024640
Disease: Aplasia/hypoplasia of the uterus
Aplasia/hypoplasia of the uterus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 8 0.100 None 0
CUI: C1401084
Disease: Ovarian Insufficiency
Ovarian Insufficiency 		disease Disease or Syndrome 9 0.050 None 0.800 5 2009 2020
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 3 0.120 None 1.000 2 2009 2011
CUI: C0001621
Disease: Adrenal Gland Diseases
Adrenal Gland Diseases 		group Endocrine System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 1 2006 2006
CUI: C0086367
Disease: Gonadotropin-Resistant Ovary Syndrome
Gonadotropin-Resistant Ovary Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 9 4 0.300 None 1.000 1 2009 2009
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 9 2 0.010 None 1.000 1 2013 2013
CUI: C0342500
Disease: Adrenal mass
Adrenal mass 		disease Endocrine System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2010 2010
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Anatomical Abnormality 9 16 0.010 None 1.000 1 2019 2019
CUI: C0271582
Disease: Isolated lutropin deficiency (disorder)
Isolated lutropin deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 9 6 0.200 None 0
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 11 0.510 None 1.000 2 2009 2012
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		disease Anatomical Abnormality 10 0.010 None 1.000 1 2013 2013
CUI: C0342381
Disease: Idiopathic growth hormone deficiency
Idiopathic growth hormone deficiency 		disease Disease or Syndrome 10 0.200 None 0
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 11 35 0.020 None 1.000 2 2007 2011
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 11 1 0.310 None 1.000 2 1 2017 2019
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease Disease or Syndrome 11 0.310 None 1.000 2 2014 2016
CUI: C0600113
Disease: Stromal tumor of ovary
Stromal tumor of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 11 1 0.010 None 1.000 1 2015 2015
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 11 0.100 None 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 12 0.100 None 0