IDS, iduronate 2-sulfatase, 3423

N. diseases: 136; N. variants: 68
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: C4552512
Disease: Neurocognitive deficit
Neurocognitive deficit 		disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2017 2017
CUI: C0342841
Disease: Hunter's syndrome, severe form
Hunter's syndrome, severe form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0342842
Disease: Hunter's syndrome, mild form
Hunter's syndrome, mild form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C2718304
Disease: Sulfoiduronate Sulfatase Deficiency
Sulfoiduronate Sulfatase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0679047
Disease: perseverative thinking
perseverative thinking 		disease Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2018 2018
CUI: C1096378
Disease: Near sudden infant death syndrome
Near sudden infant death syndrome 		phenotype Sign or Symptom 2 0.010 None 1.000 1 1983 1983
CUI: C4025598
Disease: Urinary glycosaminoglycan excretion
Urinary glycosaminoglycan excretion 		phenotype Finding 2 0.100 None 0
CUI: C1854774
Disease: Dermatan sulfate excretion in urine
Dermatan sulfate excretion in urine 		phenotype Finding 3 0.100 None 0
CUI: C0852866
Disease: Cervical cord compression
Cervical cord compression 		phenotype Nervous System Diseases; Wounds and Injuries Finding 4 0.100 None 0
CUI: C1313952
Disease: Respiration intermittent
Respiration intermittent 		phenotype Sign or Symptom 6 0.010 None 1.000 1 1986 1986
CUI: C0340231
Disease: Tracheobronchomalacia
Tracheobronchomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 6 0.100 None 0
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 16 0.010 None 1.000 1 2000 2000
CUI: C1854827
Disease: Heparan sulfate excretion in urine
Heparan sulfate excretion in urine 		phenotype Finding 7 0.100 None 0
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 124 0.020 None 1.000 2 2003 2020
CUI: C1536075
Disease: Sudden unexplained death in epilepsy
Sudden unexplained death in epilepsy 		disease Disease or Syndrome 12 0.010 None 1.000 1 2015 2015
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 9 0.010 None 1.000 1 2010 2010
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 14 0.010 None 1.000 1 2018 2018
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 17 15 0.010 None 1.000 1 2003 2003
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 26 0.010 None 1.000 1 2010 2010
CUI: C2720163
Disease: Placental Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.010 None < 0.001 1 2018 2018
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 19 90 0.080 None 1.000 8 2003 2019
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 10 0.010 None 1.000 1 2013 2013
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 25 69 0.050 None 1.000 5 2003 2019
CUI: C3150077
Disease: Mild short stature
Mild short stature 		phenotype Finding 25 8 0.100 None 0
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 26 69 1.000 definitive 0.994 172 68 1991 2019