Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0005890 Body Height phenotype Organism Attribute 1903
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
C0349588 Short stature phenotype Finding Growth abnormality 1122
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1039
C1305855 Body mass index phenotype Clinical Attribute 1014
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
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C0596887 mathematical ability phenotype Mental Process 854
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 773
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0021704 Intelligence phenotype Behavior and Behavior Mechanisms Mental Process 645
C0523465 Serum albumin measurement phenotype Laboratory Procedure 433
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 426
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 407
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 347
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 297
C0541764 Delayed bone age phenotype Finding Abnormality of the skeletal system 295
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282
C0018777 Conductive hearing loss disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 278
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 223
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 211