Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2675111 Abnormal eyelash morphology phenotype Finding Abnormality of the integument; Abnormality of head or neck 39 0
C4025596 Abnormality of connective tissue disease Anatomical Abnormality Abnormality of connective tissue 4 3
C4023328 Abnormality of corneal stroma disease Anatomical Abnormality Abnormality of the eye 1 0
C3839753 Abnormality of nail of toe phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the integument 26 0
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 56 29
C4021753 Abnormality of the immune system disease Pathologic Function Abnormality of the immune system 34 3
C4025761 Abnormality of the integument disease Anatomical Abnormality Abnormality of the integument 3 1
C4025722 Abnormality of the spinal cord group Finding Abnormality of the nervous system 4 0
C1843005 Absent eyelashes phenotype Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 21 1
C4021892 Absent fifth toenail phenotype Anatomical Abnormality Abnormality of the integument 3 2
C4303429 Acquired hearing loss phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0
C0856825 Acute GVH disease disease Immune System Diseases Disease or Syndrome 294 49
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 2438 563
C1332206 Adult Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1169 66
C0278876 Adult Medulloblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 762 24
C0001807 Aggressive behavior phenotype Behavior and Behavior Mechanisms Individual Behavior Abnormality of the nervous system 176 22
C2607914 Allergic rhinitis (disorder) disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 446 176
C3662483 Allergic sensitization disease Disease or Syndrome 85 26
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 491 375
C1527388 Amniotic Bands disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of prenatal development or birth 6 0
C0002793 Anaplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407 35
C0003469 Anxiety Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 840 163
C0003537 Aphasia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 86 3
C4021956 Aplasia/Hypoplasia of the eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 52 0