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: C4021554
Disease: Irregular tarsal ossification
Irregular tarsal ossification 		phenotype Finding 1 0.100 None 0
CUI: C4023991
Disease: Ivory epiphyses of the toes
Ivory epiphyses of the toes 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0021192
Disease: Indeterminate leprosy
Indeterminate leprosy 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1857651
Disease: Ivory epiphyses of the phalanges of the hand
Ivory epiphyses of the phalanges of the hand 		phenotype Finding 3 0.100 None 0
CUI: C4025401
Disease: Irregular carpal bones
Irregular carpal bones 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C0342153
Disease: Congenital thyroid hypoplasia
Congenital thyroid hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 4 5 0.010 None 1.000 1 2014 2014
CUI: C1837246
Disease: Intracerebral periventricular calcifications
Intracerebral periventricular calcifications 		phenotype Finding 5 1 0.100 None 0
CUI: C4551862
Disease: Ophthalmoplegia, Progressive Supranuclear
Ophthalmoplegia, Progressive Supranuclear 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2011 2011
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 6 0.300 None 1.000 1 2011 2011
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells 		phenotype Finding 7 0.100 None 0
CUI: C1856912
Disease: Shortening of all middle phalanges of the fingers
Shortening of all middle phalanges of the fingers 		phenotype Finding 7 0.100 None 0
CUI: C4321446
Disease: K ATP Permanent Neonatal Diabetes
K ATP Permanent Neonatal Diabetes 		disease Disease or Syndrome 8 2 0.030 None 1.000 3 2013 2015
CUI: C1836688
Disease: Narrow iliac wings
Narrow iliac wings 		phenotype Finding 8 0.100 None 0
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 10 8 1.000 None 0.964 28 8 1995 2019
CUI: C1863749
Disease: Carpal bone hypoplasia
Carpal bone hypoplasia 		phenotype Finding 10 0.100 None 0
CUI: C1857527
Disease: Flattened epiphysis
Flattened epiphysis 		phenotype Finding 11 3 0.100 None 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Acquired Abnormality 12 1 0.010 None < 0.001 1 2014 2014
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 6 0.010 None 1.000 1 2014 2014
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		phenotype Finding 15 0.100 None 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 18 2 0.100 None 0
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 20 240 0.100 None 0.941 17 1 2000 2019
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 20 108 0.070 None 1.000 7 2012 2018
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 0.100 None 0
CUI: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		phenotype Finding 20 0.100 None 0
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 21 2 0.100 None 0