Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0241703 High pitched voice phenotype Finding Abnormality of the voice 35
C1832348 Slow-growing hair phenotype Finding Abnormality of the integument 35
C4012968 Mild global developmental delay phenotype Finding Abnormality of the nervous system 36
C4021735 Abnormality of the hip bone disease Anatomical Abnormality Abnormality of the skeletal system 40
C0238207 Ectopic kidney disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the genitourinary system 40
C4021792 Abnormality of the clavicle disease Anatomical Abnormality Abnormality of the skeletal system 42
C0240912 Vertical Talus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 43
C1849075 Relative macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 46
C0040485 Torticollis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature 50
C1839546 Microretrognathia phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding Abnormality of head or neck; Abnormality of the skeletal system 53
C1860816 Preauricular skin tag phenotype Finding Abnormality of the integument; Abnormality of head or neck 53
C1858036 Periorbital fullness phenotype Finding Abnormality of head or neck 57
C0013363 Dysautonomia disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 62
C1840069 Sandal gap phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 62
C0019825 Hoarseness phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom Abnormality of the voice 64
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 64
C0264303 Laryngomalacia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the respiratory system 64
C1862095 Bilateral single transverse palmar creases phenotype Finding Abnormality of the integument; Abnormality of limbs 65
C1184923 Lumbar hyperlordosis disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 67
C0239137 Coxa valga phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 68
C0018916 Hemangioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the cardiovascular system 69
C0426848 Sacral dimple phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding Abnormality of the integument; Abnormality of the skeletal system 69
C1842366 Low anterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 71
C0080174 Spina Bifida Occulta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality physical disorder Abnormality of the nervous system 71
C1844813 Widely spaced teeth phenotype Finding Abnormality of head or neck 71