Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4025244 Abnormal atrioventricular conduction phenotype Pathologic Function Abnormality of the cardiovascular system 7
C4476724 Abnormal cellular phenotype phenotype Cell or Molecular Dysfunction Abnormal cellular phenotype 4
C4023222 Abnormal electrophysiology of sinoatrial node origin phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Anatomical Abnormality Abnormality of the cardiovascular system 1
C4011556 Abnormal eyebrow morphology group Anatomical Abnormality Abnormality of the integument; Abnormality of head or neck 28
C3280303 Abnormal hair whorl phenotype Finding Abnormality of the integument 5
C4531142 Abnormal lymphocyte physiology phenotype Cell or Molecular Dysfunction Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype 1
C4020957 Abnormal trabecular bone morphology disease Anatomical Abnormality Abnormality of the skeletal system 6
C4025339 Abnormality of circulating leptin level phenotype Finding Abnormality of the endocrine system 1
C4025213 Abnormality of complement system phenotype Pathologic Function Abnormality of the immune system 2
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215
C4023051 Abnormality of skeletal muscle fiber size phenotype Anatomical Abnormality Abnormality of the musculature 8
C4021642 Abnormality of the Achilles tendon disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 8
C4022001 Abnormality of the cerebral vasculature disease Anatomical Abnormality Abnormality of the nervous system; Abnormality of the cardiovascular system 18
C0262444 Abnormality of the dentition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding Abnormality of head or neck 127
C4023577 Abnormality of the intrahepatic bile duct disease Anatomical Abnormality Abnormality of the digestive system 9
C0857379 Abnormality of the pinna phenotype Finding Abnormality of the ear 78
C4021776 Abnormality of the voice disease Finding Abnormality of the voice 64
C1846228 Absence of pubertal development phenotype Finding Abnormality of the endocrine system 24
C0241267 Absence of subcutaneous fat phenotype Finding Abnormality of connective tissue 11
C0431448 Absent eyebrow disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 19
C1843005 Absent eyelashes phenotype Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 21
C4022628 Absent muscle fiber emerin phenotype Finding Abnormality of the musculature 6
C0234146 Absent reflex phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 193
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 37
C1849618 Accelerated atherosclerosis phenotype Cardiovascular Diseases Finding Abnormality of the cardiovascular system 7