Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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
C0266435 Congenital hypoplasia of penis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the genitourinary system 237
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 582
C1858430 Death in infancy phenotype Finding 140
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 296
C1277241 Delayed myelination phenotype Mental Disorders Finding Abnormality of the nervous system 109
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 472
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 409
C1836830 Developmental regression disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 299
C0011991 Diarrhea phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 200
C0598275 Diffuse cerebral atrophy phenotype Nervous System Diseases; Mental Disorders Finding Abnormality of the nervous system 32
C4024923 Diffuse white matter abnormalities disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the nervous system 30
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 407
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 374
C0013132 Drooling phenotype Stomatognathic Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 82
C0013261 Duane Retraction Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 11
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
C0013362 Dysarthria disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 457
C0013384 Dyskinetic syndrome disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 177
C0013404 Dyspnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 120
C0700201 Dyssomnias disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 167
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 315
C0751093 Dystonia, Limb phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 25
C1969156 EEG with burst suppression phenotype Finding Abnormality of the nervous system 18
C4023683 EEG with spike-wave complexes phenotype Finding Abnormality of the nervous system 22