Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4479246 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER disease Disease or Syndrome 1
C1850048 Absent proximal finger flexion creases phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2
C1856644 Absent/hypoplastic coccyx phenotype Finding Abnormality of the skeletal system 2
C2751480 Hypoplastic coccygeal vertebrae phenotype Finding Abnormality of the skeletal system 2
C0272386 Hypertrophy of tonsils disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the immune system; Abnormality of the cardiovascular system 4
C0578531 Skin dimple phenotype Finding Abnormality of the integument 5
C4022490 Prominent coccyx phenotype Finding Abnormality of the skeletal system 6
C0476217 Head movements abnormal phenotype Nervous System Diseases Finding Abnormality of the nervous system 8
C0234853 Facial grimacing phenotype Finding Abnormality of head or neck 10
C1865304 Overfolding of the superior helices phenotype Finding Abnormality of the ear 10
C0004045 Asphyxia Neonatorum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 11
C0423808 Brachyonychia phenotype Finding Abnormality of the integument 11
C0427086 Involuntary Movements phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 11
C4072903 Primary Caesarian section phenotype Finding Abnormality of prenatal development or birth 11
C4021161 Multiple suture craniosynostosis phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck; Abnormality of the skeletal system 12
C0231471 Abnormal posture phenotype Nervous System Diseases Finding Abnormality of the nervous system 13
C3808403 Large fleshy ears phenotype Finding Abnormality of the ear 13
C1858565 Duplicated collecting system disease Anatomical Abnormality Abnormality of the genitourinary system 14
C4024946 Focal white matter lesions phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system 14
C1860247 Prominent glabella phenotype Finding Abnormality of head or neck 14
C0740852 Upper airway obstruction disease Finding Abnormality of the respiratory system 14
C0006325 Bruxism phenotype Stomatognathic Diseases Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 16
C1835807 Prominent fingertip pads phenotype Finding Abnormality of the integument; Abnormality of limbs; Abnormality of the skeletal system 16
C3809827 Staring gaze phenotype Finding Abnormality of the eye 16
C1832160 Abnormality of temperature regulation phenotype Finding Abnormality of metabolism/homeostasis 19