EOS, eosinophilia, familial, 7908

N. diseases: 36; N. variants: 0
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: C0264192
Disease: Pelvic obliquity
Pelvic obliquity 		phenotype Musculoskeletal Diseases Acquired Abnormality 3 0.020 None 1.000 2 2017 2019
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis 		disease Acquired Abnormality 4 0.010 None 1.000 1 2018 2018
CUI: C0410698
Disease: Neuromuscular scoliosis
Neuromuscular scoliosis 		disease Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0272192
Disease: Familial eosinophilia
Familial eosinophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder 		group Disease or Syndrome 26 1 0.010 None 1.000 1 2013 2013
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		disease Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 33 22 0.010 None 1.000 1 2017 2017
CUI: C0158288
Disease: Spinal stenosis of lumbar region
Spinal stenosis of lumbar region 		disease Musculoskeletal Diseases Disease or Syndrome 34 2 0.010 None 1.000 1 2019 2019
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 36 0.010 None 1.000 1 2019 2019
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 46 17 0.010 None 1.000 1 2019 2019
CUI: C3665339
Disease: Bacterial sepsis of newborn
Bacterial sepsis of newborn 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome 48 4 0.010 None 1.000 1 2020 2020
CUI: C0456103
Disease: Sepsis of the newborn
Sepsis of the newborn 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome 53 7 0.010 None 1.000 1 2020 2020
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 57 3 0.010 None 1.000 1 2017 2017
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		disease Anatomical Abnormality 58 2 0.030 None 1.000 3 2017 2019
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease Anatomical Abnormality 67 2 0.010 None 1.000 1 2017 2017
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.010 None 1.000 1 2019 2019
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 105 21 0.010 None 1.000 1 2019 2019
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		group Wounds and Injuries Disease or Syndrome 108 40 0.010 None 1.000 1 2020 2020
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 183 40 0.010 None 1.000 1 2018 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2009 2009
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease Nervous System Diseases Disease or Syndrome 241 69 0.010 None 1.000 1 2019 2019
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.020 None 1.000 2 2017 2018
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder 		group Hemic and Lymphatic Diseases Disease or Syndrome 288 22 0.010 None 1.000 1 2018 2018
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.010 None 1.000 1 2018 2018
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 338 35 0.010 None 1.000 1 2019 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2018 2018