Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4021296 Flexion contracture of the 2nd toe disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1
C4021292 Flexion contracture of the 4th toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1
C1846266 Laterally curved eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 1
C1846265 Microphthalmia, syndromic 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C4072884 Ciliary body coloboma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 2
C0796016 Microphthalmia, syndromic 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3
C1168239 Asymmetry of the ears phenotype Finding Abnormality of the ear 4
C0016873 Fused Teeth disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 4
C4025810 Abnormal palmar dermatoglyphics disease Anatomical Abnormality Abnormality of the integument; Abnormality of limbs 5
C1849950 Agenesis of maxillary lateral incisor phenotype Finding Abnormality of head or neck 5
C0266568 Persistent Hyperplastic Primary Vitreous disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 5
C0266411 Septate vagina disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality Abnormality of the genitourinary system 6
C1857055 Anteverted ears phenotype Finding Abnormality of the ear 7
C4025659 Abnormality of the shoulder disease Anatomical Abnormality Abnormality of the skeletal system 8
C3554724 Complete duplication of thumb phalanx phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 8
C0575484 Long thorax phenotype Finding Abnormality of the skeletal system 9
C0426428 Bifid nasal tip phenotype Finding Abnormality of head or neck 10
C0010606 Adenoid Cystic Carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11
C0266050 Failure of exfoliation of primary tooth phenotype Disease or Syndrome Abnormality of head or neck 12
C4476767 Diffuse alveolar hemorrhage disease Disease or Syndrome Abnormality of blood and blood-forming tissues; Abnormality of the respiratory system; Abnormality of the cardiovascular system 13
C0339182 Ankyloblepharon disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality disease of anatomical entity Abnormality of head or neck 14
C0152233 Congenital ankyloblepharon disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 14
C0025874 Metrorrhagia phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of the genitourinary system; Abnormality of the endocrine system 16
C0239134 Productive Cough phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding Abnormality of the respiratory system 17
C4552938 Productive Cough, CTCAE phenotype Finding 17