DHH, desert hedgehog signaling molecule, 50846

N. diseases: 57; N. variants: 9
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.
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 1 5 0.700 strong 1.000 3 5 2004 2018
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 2 0.700 strong 1.000 2 2 2000 2012
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 1 0.310 None 1.000 2 2000 2018
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2015 2015
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 1.000 1 2 2018 2018
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.100 None 1.000 1 1 2018 2018
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 1.000 1 2 2018 2018
CUI: C4551492
Disease: Micropenis
Micropenis
disease Congenital Abnormality 32 21 0.100 None 1.000 1 2 2018 2018
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 13 2 0.100 None 1.000 1 2 2018 2018
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 1.000 1 2 2018 2018
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 51 5 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
Abnormality of peripheral nerve conduction
phenotype Finding 8 0.100 None 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
disease Disease or Syndrome 93 21 0.100 None 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 121 8 0.100 None 0
Increased circulating gonadotropin level
phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C1968706
Disease: Hypoplasia of the fallopian tube
Hypoplasia of the fallopian tube
phenotype Finding 3 0.100 None 0
Distal sensory impairment of all modalities
phenotype Finding 9 0.100 None 0
CUI: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic neuropathy
phenotype Finding 3 0.100 None 0
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology
phenotype Finding 12 0.100 None 0
Decreased number of peripheral myelinated nerve fibers
phenotype Finding 28 0.100 None 0
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 178 18 0.100 None 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 43 0.100 None 0
CUI: C0266371
Disease: Streak ovary
Streak ovary
disease Congenital Abnormality 21 0.100 None 0
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.100 None 0