Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0220723 CHOANAL ATRESIA, POSTERIOR phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding disease of anatomical entity Abnormality of head or neck 2
C4021984 Abnormal soft palate morphology disease Anatomical Abnormality Abnormality of head or neck 3
C3552156 Hypoplasia of the semicircular canal phenotype Finding Abnormality of the ear 3
C4023824 Bifid femur disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4
C1389851 Parathyroid hypoplasia disease Congenital Abnormality Abnormality of the endocrine system 4
C4025810 Abnormal palmar dermatoglyphics disease Anatomical Abnormality Abnormality of the integument; Abnormality of limbs 5
C0266614 Bat ear disease Congenital Abnormality Abnormality of the ear 5
C4023796 Aplasia/Hypoplasia of the thymus disease Anatomical Abnormality Abnormality of the endocrine system; Abnormality of the immune system; Abnormality of the cardiovascular system 6
C1850325 Labial hypoplasia phenotype Finding Abnormality of the genitourinary system 6
C1832127 Square face phenotype Finding Abnormality of head or neck 7
C4021794 Abnormality of the adrenal glands disease Anatomical Abnormality Abnormality of the endocrine system 9
C4552011 Gonadotropin deficiency disease Disease or Syndrome Abnormality of the nervous system; Abnormality of the endocrine system 9
C0152419 Interrupted aortic arch disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 9
C1851792 Aplasia/Hypoplasia of the earlobes disease Congenital Abnormality Abnormality of the ear 11
C4025663 Abnormality of tibia morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 12
C0221277 Atypical lymphocyte phenotype Finding Abnormality of the immune system; Abnormality of blood and blood-forming tissues 13
C1842714 Desquamation of skin soon after birth phenotype Finding Abnormality of the integument 14
C4317152 Dimple chin phenotype Anatomical Abnormality Abnormality of head or neck 14
C2936786 Aqueductal Stenosis disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 17
C0155552 Hearing Loss, Mixed Conductive-Sensorineural disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 17
C4025901 Abnormality of body height disease Finding Growth abnormality 18
C4022675 Increased female libido phenotype Finding Abnormality of the genitourinary system 18
C0085110 Severe Combined Immunodeficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 18
C0856748 Aneurysm of aortic arch disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 20
C4021657 Abnormality of bone mineral density disease Anatomical Abnormality Abnormality of the skeletal system 21