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: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 25 42 0.800 0.969 58 42 1965 2016
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 21 0.740 1.000 26 21 1993 2014
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 13 0.730 1.000 23 13 1993 2016
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 17 0.700 1.000 115 17 1992 2018
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 0.410 strong 1.000 1 1 2006 2006
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.320 1.000 7 2001 2015
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 2 0.300 moderate 1 1995 1995
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.300 strong 1 2013 2013
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 121 1 0.300 limited 0
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 100 4 0.200 5 2003 2007
CUI: C0038358
Disease: Gastric ulcer
Gastric ulcer
disease Digestive System Diseases Disease or Syndrome 94 7 0.200 1 1986 1986
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.110 1.000 1 1 2006 2006
CUI: C0019270
Disease: Hernia
Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 41 6 0.110 1.000 1 2007 2007
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 151 13 0.110 1.000 1 2015 2015
CUI: C1856920
Disease: Hypoplasia of the femoral head
Hypoplasia of the femoral head
phenotype Finding 3 0.100 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process
phenotype Finding 20 0.100 0
CUI: C1856661
Disease: Cloudy cornea
Cloudy cornea
phenotype Finding 40 0.100 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility
phenotype Finding 64 0.100 0
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis
phenotype Anatomical Abnormality 19 1 0.100 0
mandibular excess (physical finding)
phenotype Finding 101 0.100 0
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype Finding 102 0.100 0
CUI: C1859680
Disease: Broad face
Broad face
phenotype Finding 12 0.100 0
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 6 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0