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: C4023801
Disease: Fibular bowing
Fibular bowing 		disease Musculoskeletal Diseases Anatomical Abnormality 9 2 0.100 None 0
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		phenotype Finding 10 1 0.100 None 0
CUI: C1272352
Disease: Deficiency of vitamin D3
Deficiency of vitamin D3 		disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		phenotype Finding 11 0.100 None 0
CUI: C1855841
Disease: Hypocalcemic seizures
Hypocalcemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.100 None 0
CUI: C3888044
Disease: Nephrogenic Systemic Fibrosis
Nephrogenic Systemic Fibrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 12 3 0.010 None 1.000 1 2009 2009
CUI: C0026141
Disease: Milk-Alkali Syndrome
Milk-Alkali Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2010 2010
CUI: C1619692
Disease: Nephrogenic Fibrosing Dermopathy
Nephrogenic Fibrosing Dermopathy 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 13 0.010 None 1.000 1 2009 2009
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification 		phenotype Finding 13 0.100 None 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex 		phenotype Finding 14 0.100 None 0
CUI: C1849300
Disease: Widely patent fontanelles and sutures
Widely patent fontanelles and sutures 		phenotype Finding 17 0.100 None 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		phenotype Finding 18 1 0.100 None 0
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 21 14 0.100 None 0
CUI: C3826457
Disease: Diabetes in children
Diabetes in children 		disease Disease or Syndrome 22 2 0.010 None 1.000 1 2012 2012
CUI: C0039621
Disease: Tetany
Tetany 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Finding 24 1 0.100 None 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype Musculoskeletal Diseases Finding 25 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype Finding 25 2 0.100 None 0
CUI: C0149911
Disease: Humoral hypercalcemia of malignancy (disorder)
Humoral hypercalcemia of malignancy (disorder) 		disease Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 26 0.010 None 1.000 1 2001 2001
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder 		group Disease or Syndrome 26 1 0.010 None 1.000 1 2016 2016
CUI: C0001122
Disease: Acidosis
Acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 28 0.200 None 1.000 1 1982 1982
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		phenotype Finding 34 0.100 None 0
CUI: C0558356
Disease: Malignant melanoma of eye
Malignant melanoma of eye 		disease Neoplasms; Eye Diseases Neoplastic Process 38 0.010 None 1.000 1 2019 2019
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype Musculoskeletal Diseases Finding 38 13 0.100 None 0
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 71 0.010 None 1.000 1 2001 2001
CUI: C2103602
Disease: Autoimmune Primary Adrenal Insufficiency
Autoimmune Primary Adrenal Insufficiency 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 41 18 0.040 None 1.000 4 2005 2016