Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8621 1641
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1261 77
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C1290884 Inflammatory disorder group Pathological Conditions, Signs and Symptoms Disease or Syndrome 391 8
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 325 43
C0541764 Delayed bone age phenotype Finding Abnormality of the skeletal system 295 14
C0266929 Chronic Periodontitis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 287 99
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228 0
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 210 32
C0029422 Osteochondrodysplasias group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity Abnormality of the skeletal system 207 26
C0023290 Leishmaniasis, Visceral disease Infections Disease or Syndrome disease of anatomical entity; disease by infectious agent 197 22
C0009782 Connective Tissue Diseases group Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 188 24
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65
C0024003 Lordosis phenotype Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 160 15
C0220748 Cartilage-hair hypoplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome; Congenital Abnormality genetic disease 49 77
C0239138 Hip joint varus deformity - observation phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 49 2
C0158465 Acquired cubitus valgus disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 35 1
C1836184 Short femoral neck phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 31 0
C0265294 Pyle metaphyseal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of limbs; Abnormality of the skeletal system 25 5
C1855665 Ovoid vertebral bodies phenotype Finding Abnormality of the skeletal system 25 0
C1834124 Shield chest phenotype Finding Abnormality of the skeletal system 12 2