RSS, Russell Silver syndrome, 140821

N. diseases: 103; 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: C0038017
Disease: Congenital spondylolisthesis
Congenital spondylolisthesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 1 0.010 None 1.000 1 2017 2017
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2016 2016
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		disease Musculoskeletal Diseases Disease or Syndrome 61 21 0.010 None 1.000 1 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
CUI: C0338908
Disease: Mixed anxiety and depressive disorder
Mixed anxiety and depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 146 13 0.010 None 1.000 1 2017 2017
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.010 None 1.000 1 2018 2018
CUI: C0424101
Disease: Inattention
Inattention 		phenotype Mental or Behavioral Dysfunction 66 22 0.010 None 1.000 1 2018 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2018 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2020 2020
CUI: C0432475
Disease: XX males
XX males 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0.010 None 1.000 1 2009 2009
CUI: C0221776
Disease: Oral pain
Oral pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 11 0.010 None 1.000 1 2018 2018
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		group Disease or Syndrome 188 9 0.010 None 1.000 1 2018 2018
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.010 None 1.000 1 2019 2019
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 16 0.010 None 1.000 1 2018 2018
CUI: C0040997
Disease: Trigeminal Neuralgia
Trigeminal Neuralgia 		disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 107 1 0.010 None 1.000 1 2019 2019
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections 		group Infections; Respiratory Tract Diseases Disease or Syndrome 64 6 0.010 None 1.000 1 1988 1988
CUI: C0152444
Disease: Hydrorhachis
Hydrorhachis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		disease Eye Diseases Disease or Syndrome 16 6 0.010 None 1.000 1 2017 2017
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.010 None 1.000 1 2017 2017
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 115 8 0.010 None 1.000 1 2017 2017
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 0.010 None 1.000 1 2018 2018
CUI: C0496899
Disease: Benign neoplasm of brain, unspecified
Benign neoplasm of brain, unspecified 		disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.010 None 1.000 1 2017 2017
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2019 2019
CUI: C1698581
Disease: Rokitansky Kuster Hauser syndrome
Rokitansky Kuster Hauser syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 27 3 0.010 None 1.000 1 2018 2018
CUI: C1864389
Disease: PREMATURE CHROMATID SEPARATION TRAIT
PREMATURE CHROMATID SEPARATION TRAIT 		disease Disease or Syndrome 19 10 0.010 None 1.000 1 2019 2019