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: C4479357
Disease: ANAUXETIC DYSPLASIA 2
ANAUXETIC DYSPLASIA 2
disease Disease or Syndrome 2 5 0.610 strong 1.000 4 5 2011 2019
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 18 0.530 None 1.000 3 2011 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C1834124
Disease: Shield chest
Shield chest
phenotype Finding 12 2 0.100 None 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype Finding 31 0.100 None 0
CUI: C1849034
Disease: Hypoplastic iliac body
Hypoplastic iliac body
phenotype Finding 4 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies
phenotype Finding 25 0.100 None 0
CUI: C1856920
Disease: Hypoplasia of the femoral head
Hypoplasia of the femoral head
phenotype Finding 4 0.100 None 0
CUI: C1859335
Disease: Thoracolumbar kyphoscoliosis
Thoracolumbar kyphoscoliosis
phenotype Finding 6 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease Musculoskeletal Diseases Finding 210 32 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis
phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus
disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 5 0.100 None 0
Hip joint varus deformity - observation
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 49 2 0.100 None 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.020 None 1.000 2 2011 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.020 None 1.000 2 2011 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2016 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2019 2019
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome; Congenital Abnormality 49 77 0.010 None 1.000 1 2017 2017