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: C2874303
Disease: Pseudovitamin D deficiency
Pseudovitamin D deficiency 		disease Disease or Syndrome 1 1 0.010 None 1.000 1 1 2016 2016
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 2 15 0.020 None 1.000 2 2003 2004
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2017 2017
CUI: C1866700
Disease: Irregular, rachitic-like metaphyses
Irregular, rachitic-like metaphyses 		phenotype Finding 3 0.100 None 0
CUI: C4476534
Disease: Subperiosteal bone resorption
Subperiosteal bone resorption 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C1838659
Disease: Deformed rib cage
Deformed rib cage 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C1848538
Disease: Bulging of the costochondral junction
Bulging of the costochondral junction 		phenotype Finding 4 0.100 None 0
CUI: C0263984
Disease: Polymyositis Ossificans
Polymyositis Ossificans 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2010 2010
CUI: C0271858
Disease: Tertiary hyperparathyroidism
Tertiary hyperparathyroidism 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2009 2009
CUI: C0554591
Disease: Polymyositis, Idiopathic
Polymyositis, Idiopathic 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2010 2010
CUI: C0702167
Disease: Atrichia
Atrichia 		disease Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2003 2003
CUI: C1833324
Disease: Sparse bone trabeculae
Sparse bone trabeculae 		phenotype Finding 5 0.100 None 0
CUI: C1833329
Disease: Bulging epiphyses
Bulging epiphyses 		phenotype Finding 5 0.100 None 0
CUI: C4023065
Disease: Low serum calcitriol
Low serum calcitriol 		phenotype Finding 5 0.100 None 0
CUI: C0268689
Disease: Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 6 21 0.800 strong 1.000 28 20 1997 2020
CUI: C1838664
Disease: Enlargement of the ankles
Enlargement of the ankles 		phenotype Finding 6 0.100 None 0
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 7 1 0.230 None 1.000 8 1998 2017
CUI: C0264009
Disease: Osteodystrophy
Osteodystrophy 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 7 0.010 None 1.000 1 2018 2018
CUI: C0403766
Disease: Acquired phimosis
Acquired phimosis 		disease Skin and Connective Tissue Diseases; Male Urogenital Diseases Acquired Abnormality 7 0.010 None 1.000 1 2018 2018
CUI: C1833667
Disease: Elevated alkaline phosphatase of bone origin
Elevated alkaline phosphatase of bone origin 		phenotype Finding 7 0.100 None 0
CUI: C4551565
Disease: Rachitic rosary
Rachitic rosary 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0345326
Disease: Congenital phimosis
Congenital phimosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Male Urogenital Diseases Congenital Abnormality 8 1 0.010 None 1.000 1 2018 2018
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		phenotype Finding 8 0.100 None 0
CUI: C1857180
Disease: Enlargement of the costochondral junction
Enlargement of the costochondral junction 		phenotype Finding 8 0.100 None 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 9 0.100 None 0