Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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
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 318
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237
C0021051 Immunologic Deficiency Syndromes group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 166
C0029422 Osteochondrodysplasias group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity Abnormality of the skeletal system 105
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 1292
C0349588 Short stature phenotype Finding Growth abnormality 1122
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
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 942
C0596887 mathematical ability phenotype Mental Process 854
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 641
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 590
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 459
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 288
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282
C1854114 Short nose phenotype Finding Abnormality of head or neck 265
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 252
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 241
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 238
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228
C0239676 High forehead phenotype Finding Abnormality of head or neck 211