Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0024421 Macroglossia disease Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck; Abnormality of the musculature 111
C0040412 Fissured tongue disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck 33
C0022596 Palmoplantar Keratosis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of limbs 30
C1836735 hypopigmented skin patch phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 123
C0018418 Gynecomastia disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the breast 90
C1519353 Skin Papule phenotype Skin and Connective Tissue Diseases Finding 74
C0036508 Seborrheic dermatitis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 26
C0022603 Seborrheic keratosis disease Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity Abnormality of the integument; Neoplasm 4
C1265968 Hyperparakeratosis phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 2
C1861975 Cafe au lait spots, multiple disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 59
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 551
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
C0542476 Forgetful phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 108
C0018524 Hallucinations disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 126
C0233794 Memory impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 118
C0001816 Agnosia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 17
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 1292
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 954
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 942
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 609
C0013362 Dysarthria disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 470
C0575081 Gait abnormality group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 312
C0026826 Muscle Hypertonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the musculature 196
C0013384 Dyskinetic syndrome disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 185
C0234132 Pyramidal sign phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 128