CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0011334 Dental caries disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck 191
C0024636 Malocclusion disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 93
C0040433 Tooth Crowding phenotype Stomatognathic Diseases Finding Abnormality of head or neck 82
C0043352 Xerostomia disease Stomatognathic Diseases Finding Abnormality of head or neck 56
C0266061 Open Bite phenotype Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 36
C1836735 hypopigmented skin patch phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 123
C0020458 Hyperhidrosis disorder phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 114
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 38
C0022603 Seborrheic keratosis disease Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity Abnormality of the integument; Neoplasm 4
C0520679 Sleep Apnea, Obstructive disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 57
C0037315 Sleep Apnea Syndromes disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 51
C0520680 Sleep Apnea, Central disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 36
C0035229 Respiratory Insufficiency phenotype Respiratory Tract Diseases Pathologic Function Abnormality of the respiratory system 304
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 397
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 622
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
C0018777 Conductive hearing loss disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 278
C0155552 Hearing Loss, Mixed Conductive-Sensorineural disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 17
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
C0520947 Clumsiness - motor delay disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome disease of mental health 363
C0036857 Severe intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction genetic disease; disease of mental health Abnormality of the nervous system 334
C0026351 Moderate intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 223
C3161330 Profound intellectual disabilities disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 111
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