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: C0152459
Disease: Linear atrophy
Linear atrophy
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.100 None 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis
disease Musculoskeletal Diseases Anatomical Abnormality 35 0.100 None 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 26 0.100 None 0
CUI: C4022551
Disease: Wide penis
Wide penis
disease Anatomical Abnormality 3 0.100 None 0
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density
disease Anatomical Abnormality 4 1 0.100 None 0
Cortical diaphyseal thickening of the upper limbs
disease Anatomical Abnormality 2 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
Multiple gastrointestinal atresias (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 5 23 0.020 None 1.000 2 2012 2013
CUI: C2362640
Disease: Neuronal choristoma
Neuronal choristoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.010 None 1.000 1 2013 2013
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 4 0.100 None 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
disease Stomatognathic Diseases Congenital Abnormality 181 19 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 0.100 None 0
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.400 None 1.000 25 4 2007 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 0.905 21 3 2007 2020
CUI: C0017547
Disease: Gigantism
Gigantism
disease Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 16 1 0.060 None 1.000 6 1 2013 2018
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.040 None 1.000 4 1990 2019
CHROMOSOME Xq26.3 DUPLICATION SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 0.040 None 1.000 4 2015 2018
CUI: C4552171
Disease: Familial acromegaly
Familial acromegaly
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 0.040 None 1.000 4 2007 2016
CUI: C0405578
Disease: Gigantism and acromegaly
Gigantism and acromegaly
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 5 0.030 None 1.000 3 2012 2017
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases
group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 153 3 0.020 None 1.000 2 2008 2013
Pituitary-dependent Cushing's disease
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 115 8 0.320 strong 1.000 2 2010 2012