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.
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 8 0.710 definitive 1.000 9 8 1994 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.470 strong 1.000 7 2010 2018
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.340 1.000 4 2010 2015
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 60 0.300 strong 1 2015 2015
Idiopathic hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 62 42 0.300 strong 3 2007 2015
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 limited 0
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.110 1.000 1 2007 2007
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
disease Congenital Abnormality 129 4 0.110 1.000 1 2010 2010
CUI: C0040822
Disease: Tremor
Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 225 27 0.110 1.000 1 2007 2007
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype Acquired Abnormality 156 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 2 2 2015 2015
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C1840069
Disease: Sandal gap
Sandal gap
phenotype Finding 34 0.100 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
phenotype Finding 77 0.100 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 102 3 0.100 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 89 1 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 203 1 0.100 0
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 64 2 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0746940
Disease: Nonverbal
Nonverbal
phenotype Finding 75 0.100 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 194 35 0.100 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 33 2 0.100 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 61 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0