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: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 3 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: 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: C0857899
Disease: Decreased circulating aldosterone level
Decreased circulating aldosterone level 		phenotype Immune System Diseases; Endocrine System Diseases Finding 16 0.100 None 0
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: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 42 0.100 None 0
CUI: C4024641
Disease: Enlarged polycystic ovaries
Enlarged polycystic ovaries 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 18 0.100 None 0
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		phenotype Finding 23 0.100 None 0
CUI: C4025891
Disease: Ambiguous genitalia, female
Ambiguous genitalia, female 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.100 None 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C4022695
Disease: Abnormality of the labia majora
Abnormality of the labia majora 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4022554
Disease: Hyperpigmented genitalia
Hyperpigmented genitalia 		phenotype Finding 3 0.100 None 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		disease Anatomical Abnormality 18 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: C4021740
Disease: Increased circulating ACTH level
Increased circulating ACTH level 		phenotype Finding 12 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: C4021124
Disease: Adrenocorticotropic hormone excess
Adrenocorticotropic hormone excess 		phenotype Nervous System Diseases; Endocrine System Diseases Pathologic Function 5 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: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance 		phenotype Finding 15 0.100 None 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting 		phenotype Finding 22 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: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		phenotype Finding 44 0.100 None 0
CUI: C4025888
Disease: Abnormality of the menstrual cycle
Abnormality of the menstrual cycle 		disease Pathological Conditions, Signs and Symptoms Finding 11 1 0.100 None 0
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		disease Disease or Syndrome 18 11 0.100 None 0