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: C1844592
Disease: Soft skin
Soft skin
phenotype Finding 22 3 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0
CUI: C1850160
Disease: Thin metacarpal cortices
Thin metacarpal cortices
phenotype Finding 2 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
Compression fracture of vertebral column
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 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 1
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass
phenotype Finding 65 12 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0086942
Disease: Rous Sarcoma
Rous Sarcoma
disease Neoplasms; Infections; Animal Diseases Neoplastic Process; Experimental Model of Disease 60 0.010 None 1.000 1 1986 1986
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.040 None 1.000 4 1988 2014
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.060 None 1.000 6 1991 2019
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.050 None 1.000 5 1991 2006
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.520 strong 1.000 4 1991 2018
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 56 63 0.010 None 1.000 1 1991 1991
CUI: C1527383
Disease: Morphea
Morphea
disease Skin and Connective Tissue Diseases Disease or Syndrome 20 0.010 None 1.000 1 1991 1991
CUI: C0036420
Disease: Localized scleroderma
Localized scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 51 0.010 None 1.000 1 1991 1991
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 13 257 0.300 None 1.000 1 1991 1991
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.969 127 1992 2019
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms
group Neoplasms; Musculoskeletal Diseases Neoplastic Process 151 4 0.020 None 1.000 2 1992 2018