Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4021657 Abnormality of bone mineral density disease Anatomical Abnormality Abnormality of the skeletal system 22 1
C0265833 Congenital insufficiency of pulmonary valve disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 1
C4025818 Abnormality of skeletal maturation phenotype Anatomical Abnormality Abnormality of the skeletal system 1 1
C0162819 Skin Diseases, Vascular group Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the cardiovascular system 11 2
C2748518 Lumbar scoliosis disease Disease or Syndrome Abnormality of the skeletal system 10 2
C0558844 Knee reflex absent phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs 5 2
C3472624 B lymphoblastic leukemia lymphoma, no ICD-O subtype disease Neoplastic Process 2 2
C0162164 Congenital stenosis of pulmonary valve disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Congenital Abnormality 1 3
C4021797 Abnormality of the thorax disease Anatomical Abnormality Abnormality of the skeletal system 40 5
C0025323 Menorrhagia phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of the genitourinary system; Abnormality of the endocrine system; Abnormality of blood and blood-forming tissues 34 6
C1845447 Cupped ears (finding) phenotype Congenital Abnormality Abnormality of the ear 45 7
C3150613 Long toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 24 8
C0206733 Strawberry nevus of skin disease Neoplasms Neoplastic Process disease of anatomical entity Neoplasm; Abnormality of the cardiovascular system 112 10
C1853638 Broad neck phenotype Finding Abnormality of head or neck 22 10
C1859778 Postnatal growth retardation phenotype Finding Growth abnormality 121 11
C1836047 Long face phenotype Finding Abnormality of head or neck 182 12
C0423798 Increased tendency to bruise phenotype Wounds and Injuries Finding Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 133 14
C1865916 Bilateral ptosis phenotype Eye Diseases Finding Abnormality of the eye 50 14
C0086437 Joint laxity phenotype Musculoskeletal Diseases Pathologic Function Abnormality of the skeletal system 224 15
C0221217 Neck webbing disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of head or neck 78 19
C1389018 Atrioventricular Septal Defect disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 58 19
C1839758 Narrow forehead phenotype Finding Abnormality of head or neck 106 20
C0034012 Delayed Puberty phenotype Endocrine System Diseases Pathologic Function Abnormality of the endocrine system; Growth abnormality 196 21
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 129 21
C0231528 Myalgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom disease of anatomical entity Constitutional symptom 226 22