AMH, anti-Mullerian hormone, 268

N. diseases: 242; N. variants: 12
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: C0746025
Disease: Lumbar spondylolisthesis
Lumbar spondylolisthesis
phenotype Musculoskeletal Diseases Acquired Abnormality 10 0.040 None 1.000 4 2017 2019
CUI: C4280905
Disease: Degenerative scoliosis
Degenerative scoliosis
disease Acquired Abnormality 1 0.020 None 1.000 2 2017 2018
CUI: C0016427
Disease: Follicular cyst
Follicular cyst
disease Neoplasms Acquired Abnormality 4 0.010 None 1.000 1 2018 2018
CUI: C0158458
Disease: Acquired hallux valgus
Acquired hallux valgus
disease Musculoskeletal Diseases Acquired Abnormality 14 0.010 None 1.000 1 2019 2019
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 75 33 0.010 None 1.000 1 2018 2018
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 0.800 strong 0.958 24 9 1991 2020
CUI: C0019270
Disease: Hernia
Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.020 None 1.000 2 2013 2017
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus
disease Musculoskeletal Diseases Anatomical Abnormality 61 6 0.010 None 1.000 1 2019 2019
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.010 None 1.000 1 2020 2020
CUI: C1285498
Disease: Vegetation
Vegetation
disease Anatomical Abnormality 67 0.010 None 1.000 1 2017 2017
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.100 None 0
Abnormality of male internal genitalia
disease Anatomical Abnormality 5 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.180 None 1.000 8 1 2003 2019
CUI: C0038017
Disease: Congenital spondylolisthesis
Congenital spondylolisthesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 1 0.060 None 1.000 6 2017 2019
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 3 0.050 None 1.000 5 1993 2020
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 0.140 None 1.000 4 1994 2018
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 53 6 0.030 None 1.000 3 1996 2010
CUI: C0266360
Disease: Streak gonad
Streak gonad
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 0.030 None 1.000 3 1996 2012
Klinefelter's syndrome - male with more than two X chromosomes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.030 None 1.000 3 2004 2020
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 39 6 0.020 None 1.000 2 2017 2018
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 27 0.020 None 1.000 2 1996 2017
CUI: C4551490
Disease: Ovotestis
Ovotestis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 0.020 None 1.000 2 1996 2017
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 16 19 0.010 None 1.000 1 2003 2003
Congenital hypoplasia of adrenal gland
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.010 None 1.000 1 2002 2002
CUI: C0265656
Disease: Congenital hallux valgus
Congenital hallux valgus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 0.010 None 1.000 1 2019 2019