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: C0014536
Disease: Epidural Neoplasms
Epidural Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 2 0.010 None 1.000 1 2019 2019
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: C0741585
Disease: BODY ACHE
BODY ACHE 		phenotype Sign or Symptom 4 1 0.010 None 1.000 1 2019 2019
CUI: C0558116
Disease: Distorted body image
Distorted body image 		disease Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2018 2018
CUI: C4552213
Disease: Broad autism phenotype
Broad autism phenotype 		disease Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2014 2014
CUI: C4727182
Disease: Recurrent Cushing Disease
Recurrent Cushing Disease 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 6 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: C0740418
Disease: Chronic back pain
Chronic back pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 10 0.010 None 1.000 1 2019 2019
CUI: C4015558
Disease: Temple syndrome
Temple syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
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: C0684550
Disease: Secondary malignant neoplasm of vertebral column
Secondary malignant neoplasm of vertebral column 		disease Neoplastic Process 15 0.010 None 1.000 1 2018 2018
CUI: C1515091
Disease: Surgically-Created Resection Cavity
Surgically-Created Resection Cavity 		disease Acquired Abnormality 16 3 0.030 None 1.000 3 2017 2019
CUI: C0037933
Disease: Spinal Diseases
Spinal Diseases 		group Musculoskeletal Diseases Disease or Syndrome 16 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: 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: C1864389
Disease: PREMATURE CHROMATID SEPARATION TRAIT
PREMATURE CHROMATID SEPARATION TRAIT 		disease Disease or Syndrome 19 10 0.010 None 1.000 1 2019 2019
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis 		disease Musculoskeletal Diseases Congenital Abnormality 21 7 0.010 None 1.000 1 2020 2020
CUI: C3890602
Disease: Bodily Pain
Bodily Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 22 4 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: C0038016
Disease: Spondylolisthesis
Spondylolisthesis 		disease Musculoskeletal Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2017 2017
CUI: C0023222
Disease: Pain in lower limb
Pain in lower limb 		phenotype Sign or Symptom 31 2 0.030 None 1.000 3 2018 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: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease Disease or Syndrome 33 59 0.010 None 1.000 1 1988 1988
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 35 6 0.010 None 1.000 1 2018 2018
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 36 6 0.010 None 1.000 1 2014 2014