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: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases Disease or Syndrome 33 0.100 None 0
CUI: C4021740
Disease: Increased circulating ACTH level
Increased circulating ACTH level 		phenotype Finding 12 0.100 None 0
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Finding 13 1 0.100 None 0
CUI: C0426320
Disease: Absent scrotum
Absent scrotum 		disease Congenital Abnormality 2 0.100 None 0
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		disease Disease or Syndrome 18 11 0.100 None 0
CUI: C0342527
Disease: Deficiency of testosterone biosynthesis
Deficiency of testosterone biosynthesis 		disease Endocrine System Diseases Disease or Syndrome 18 0.100 None 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		disease Congenital Abnormality 30 2 0.100 None 0
CUI: C0302280
Disease: Adrenogenital Syndrome
Adrenogenital Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 0.100 None 0
CUI: C0266275
Disease: Ectopic adrenal gland
Ectopic adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 3 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C0240783
Disease: Increased circulating renin level
Increased circulating renin level 		phenotype Finding 10 0.100 None 0
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 4 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 15 0.100 None 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		phenotype Finding 26 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C1836623
Disease: Decreased circulating cortisol level
Decreased circulating cortisol level 		phenotype Immune System Diseases; Endocrine System Diseases Finding 23 2 0.100 None 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting 		phenotype Finding 22 0.100 None 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance 		phenotype Finding 15 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		phenotype Finding 17 1 0.100 None 0
CUI: C0857899
Disease: Decreased circulating aldosterone level
Decreased circulating aldosterone level 		phenotype Immune System Diseases; Endocrine System Diseases Finding 16 0.100 None 0
CUI: C2931782
Disease: Adrenal hyperplasia 2
Adrenal hyperplasia 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0