Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0018681 Headache phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the nervous system 144
C0020620 Hypohidrosis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 62
C3714772 Recurrent fevers phenotype Sign or Symptom disease by infectious agent 34
C0035021 Relapsing Fever disease Infections Disease or Syndrome disease by infectious agent 34
C0344307 Absence of pain sensation phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Finding Abnormality of the nervous system 10
C1837602 Painless fractures due to injury phenotype Finding Abnormality of the nervous system; Abnormality of the skeletal system 8
C0151572 Reflex, Corneal, Decreased phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the eye 8
C4024968 Impaired thermal sensitivity phenotype Finding Abnormality of metabolism/homeostasis 3