Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 558
C4553743 Spasticity, CTCAE phenotype Finding 476
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 407
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 242
C1845977 X- linked recessive phenotype Finding 172
C0700201 Dyssomnias disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 167
C0851578 Sleep Disorders group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 167
C1854494 Slow progression phenotype Finding 165
C0302511 Small for gestational age fetus phenotype Pathological Conditions, Signs and Symptoms Finding 156
C0022107 Irritable Mood phenotype Behavior and Behavior Mechanisms Finding 139
C4552810 Irritability, CTCAE phenotype Finding 139
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0576226 Short foot phenotype Finding 116
C1853237 Isolated cases phenotype Finding 111
C1847879 X-linked dominant inheritance phenotype Finding 65
C1837352 Childhood onset phenotype Finding 56
C1839839 MAJOR AFFECTIVE DISORDER 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 25
C1852197 MAJOR AFFECTIVE DISORDER 1 disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 25
C1963217 Prolonged QTc Interval, CTCAE phenotype Finding 25
C1970943 MAJOR AFFECTIVE DISORDER 4 disease Mental Disorders Mental or Behavioral Dysfunction 25
C1970945 MAJOR AFFECTIVE DISORDER 6 disease Mental Disorders Mental or Behavioral Dysfunction 25