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
C4025818 Abnormality of skeletal maturation phenotype Anatomical Abnormality Abnormality of the skeletal system 1 1
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 31 24
C4021797 Abnormality of the thorax disease Anatomical Abnormality Abnormality of the skeletal system 40 5
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
C3472624 B lymphoblastic leukemia lymphoma, no ICD-O subtype disease Neoplastic Process 2 2
C1865916 Bilateral ptosis phenotype Eye Diseases Finding Abnormality of the eye 50 14
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 595 57
C1853638 Broad neck phenotype Finding Abnormality of head or neck 22 10
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 417 30
C0265833 Congenital insufficiency of pulmonary valve disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 1
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
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 725 80
C1845447 Cupped ears (finding) phenotype Congenital Abnormality Abnormality of the ear 45 7
C0034012 Delayed Puberty phenotype Endocrine System Diseases Pathologic Function Abnormality of the endocrine system; Growth abnormality 196 21
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1261 77
C0013404 Dyspnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 222 26
C0015672 Fatigue phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 760 67
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C3887873 Hearing Loss phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 18 61
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 129 21
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
C0086437 Joint laxity phenotype Musculoskeletal Diseases Pathologic Function Abnormality of the skeletal system 224 15
C0349639 Juvenile Myelomonocytic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 179 70
C0558844 Knee reflex absent phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs 5 2