Source: CURATED ×
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: C0233715
Disease: Speech impairment
Speech impairment 		phenotype Finding 1 2 0.300 limited 1.000 1 2012 2012
CUI: C0562557
Disease: Sexually disinhibited behavior
Sexually disinhibited behavior 		phenotype Finding 1 0.300 limited 1.000 1 2012 2012
CUI: C4479260
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 		disease Disease or Syndrome 2 1 0.400 None 1.000 1 1 2016 2016
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 1 0.300 limited 1.000 1 2012 2012
CUI: C3150755
Disease: SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 		phenotype Finding 1 1 0.600 moderate 0 1
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		phenotype Behavior and Behavior Mechanisms Finding 2 1 0.300 limited 1.000 1 2012 2012
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 16 20 0.310 limited 1.000 1 2012 2018
CUI: C0233754
Disease: Derealization
Derealization 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1 0.300 limited 1.000 1 2012 2012
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype Behavior and Behavior Mechanisms Mental Process 1 14 0.300 limited 1.000 1 2012 2012
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 11 0.760 None 0.857 3 11 2009 2017
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 3 0.760 None 1.000 2 3 2008 2014
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 0.300 None 1.000 1 2008 2008
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 19 0.300 None 1.000 1 2008 2008
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 1 0.300 None 1.000 1 2008 2008
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 19 18 0.470 None 1.000 1 2008 2017
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 0.300 None 1.000 1 2008 2008
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 0.410 None 1.000 1 2008 2010
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 0.300 None 1.000 1 2008 2008
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.710 None 1.000 1 4 2011 2019
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 5 0.710 None 1.000 1 5 2010 2010
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 3 0.300 None 1.000 1 2008 2008
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 2 0.300 None 1.000 1 2008 2008
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1 19 0.800 None 1.000 6 19 2009 2020
CUI: C3711162
Disease: Metatropic Dysplasia Type 1
Metatropic Dysplasia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2010 2010
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 77 6 0.300 None 0