Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3552136 HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA disease Finding 1
C3552553 HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C0265354 CHARGE Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome syndrome 2
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
C3874334 Severe hearing loss phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding Abnormality of the ear 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
C0431406 Asymmetric crying face association disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck 4
C4023824 Bifid femur disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4
C4023386 Morphological abnormality of the semicircular canal disease Anatomical Abnormality Abnormality of the ear 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
C4022758 Mild hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding Abnormality of the ear 6
C1850325 Labial hypoplasia phenotype Finding Abnormality of the genitourinary system 7
C0431527 Laryngeal hypoplasia disease Congenital Abnormality Abnormality of the respiratory system 7
C4551492 Micropenis disease Congenital Abnormality Abnormality of the genitourinary system 8
C1832127 Square face phenotype Finding Abnormality of head or neck 8
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
C4021777 Abnormality of the larynx phenotype Anatomical Abnormality Abnormality of the respiratory system 11
C1851792 Aplasia/Hypoplasia of the earlobes disease Congenital Abnormality Abnormality of the ear 11
C1398522 Cleft palate and bilateral cleft lip disease Congenital Abnormality Abnormality of head or neck 11