Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4025810 Abnormal palmar dermatoglyphics disease Anatomical Abnormality Abnormality of the integument; Abnormality of limbs 5
C4021984 Abnormal soft palate morphology disease Anatomical Abnormality Abnormality of head or neck 3
C3164445 Abnormality of aortic valve disease Anatomical Abnormality Abnormality of the cardiovascular system 48
C4025901 Abnormality of body height disease Finding Growth abnormality 18
C4021657 Abnormality of bone mineral density disease Anatomical Abnormality Abnormality of the skeletal system 21
C4049796 Abnormality of cardiovascular system morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 165
C4025900 Abnormality of female internal genitalia disease Anatomical Abnormality Abnormality of the genitourinary system 31
C4023616 Abnormality of immune system physiology phenotype Pathologic Function Abnormality of the immune system 41
C4021794 Abnormality of the adrenal glands disease Anatomical Abnormality Abnormality of the endocrine system 9
C0262444 Abnormality of the dentition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding Abnormality of head or neck 127
C4025814 Abnormality of the metaphysis disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 97
C1846460 Abnormality of the outer ear disease Anatomical Abnormality Abnormality of the ear 87
C1842083 Abnormality of the ribs disease Anatomical Abnormality Abnormality of the skeletal system 63
C4021776 Abnormality of the voice disease Finding Abnormality of the voice 64
C4025663 Abnormality of tibia morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 12
C4025846 Abnormality of vision disease Finding Abnormality of the eye 118
C1846228 Absence of pubertal development phenotype Finding Abnormality of the endocrine system 24
C4021551 Absence of secondary sex characteristics phenotype Finding Abnormality of the endocrine system 44
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109
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 163
C4551936 Anal Stenosis, CTCAE phenotype Finding 27
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 299
C0856748 Aneurysm of aortic arch disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 20
C0003119 Anophthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 59
C0003126 Anosmia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 38