Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
C0349588 Short stature phenotype Finding Growth abnormality 1005
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0162298 Joint stiffness phenotype Musculoskeletal Diseases Sign or Symptom Abnormality of the skeletal system 158
C4021611 Abnormality of epiphysis morphology phenotype Anatomical Abnormality Abnormality of the skeletal system 86
C1855340 Bowing of the long bones phenotype Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 58
C0544755 Genu varum phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 58
C2749463 Aplasia/Hypoplasia of the radius phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 45
C1849039 Metaphyseal widening phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 43
C1838662 Metaphyseal irregularity phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 34
C1836184 Short femoral neck phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 31
C1096086 Deformity of lower limb disease Anatomical Abnormality Abnormality of limbs 6
C4025424 Abnormality of ulnar metaphysis disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3