Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1458
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1259
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156
C0349588 Short stature phenotype Finding Growth abnormality 1122
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1039
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 954
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 717
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 610
C0037369 Smoking phenotype Behavior and Behavior Mechanisms Individual Behavior disease of mental health 391
C0015672 Fatigue phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 340
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 307
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 289
C1519383 Smoking Behaviors phenotype Behavior and Behavior Mechanisms Individual Behavior 249
C1306503 Congenital exomphalos disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity; physical disorder 216
C1845847 Coarse facial features phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 194
C0022346 Icterus phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Abnormality of the integument 144
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 114
C0024421 Macroglossia disease Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck; Abnormality of the musculature 111
C0000731 Abdomen distended phenotype Digestive System Diseases Finding Abnormality of the digestive system 103
C0042900 Vitiligo disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 99
C4014795 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 disease Disease or Syndrome 82
C4310768 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 disease Disease or Syndrome 82
C3150797 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 disease Finding 82
C0456132 Large fontanelle phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 77