Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1458
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 306
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 271
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 269
C1854114 Short nose phenotype Finding Abnormality of head or neck 265
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 241
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 211
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 130
C1142533 Smooth philtrum phenotype Finding Abnormality of head or neck 105
C1837402 Flat occiput phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 45
C1857949 Prominent metopic ridge phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 38
C4025616 CNS hypomyelination phenotype Finding Abnormality of the nervous system 32
C2677328 Cerebral hypomyelination phenotype Finding Abnormality of the nervous system 29
C0425782 Breast size phenotype Finding 16
C0424304 Inappropriate laughter phenotype Finding Abnormality of the nervous system 7
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 556
C0001807 Aggressive behavior phenotype Behavior and Behavior Mechanisms Individual Behavior Abnormality of the nervous system 176
C0221356 Brachycephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 176
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C0268126 Adenylosuccinate lyase deficiency (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of metabolism 1