Source: INFERRED

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 50
C4025901 Abnormality of body height disease Finding Growth abnormality 18
C4021657 Abnormality of bone mineral density disease Anatomical Abnormality Abnormality of the skeletal system 22
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 104
C4049796 Abnormality of cardiovascular system morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 172
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 42
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 140
C4021777 Abnormality of the larynx phenotype Anatomical Abnormality Abnormality of the respiratory system 11
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 95
C1842083 Abnormality of the ribs disease Anatomical Abnormality Abnormality of the skeletal system 66
C4021655 Abnormality of the sense of smell phenotype Finding Abnormality of the nervous system; Abnormality of head or neck 14
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 13
C4025846 Abnormality of vision disease Finding Abnormality of the eye 122
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
C0431371 Absence of septum pellucidum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 84
C1849364 Absent earlobe phenotype Congenital Abnormality Abnormality of the ear 14
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 50
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109