Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4025774 1-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C1861357 1-5 finger complete cutaneous syndactyly phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1
C4023728 1-5 finger syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C4021235 1-5 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C4476857 1-minute APGAR score of 0 phenotype Finding Abnormality of prenatal development or birth 1
C4476858 1-minute APGAR score of 1 phenotype Finding Abnormality of prenatal development or birth 1
C1839731 11 pairs of ribs phenotype Finding Abnormality of the skeletal system 18
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 72
C4021236 2-4 finger syndactyly phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C4021622 2-4 toe cutaneous syndactyly disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C4021234 2-4 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C4023736 2-5 finger syndactyly phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C1861376 2nd-5th toe middle phalangeal hypoplasia phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2
C4023115 3-4 finger cutaneous syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 3
C1856889 3-4 finger syndactyly phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 4
C1834062 3-4 toe syndactyly phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 3
C3696376 3-Methylglutaconic Aciduria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system; Abnormal cellular phenotype 16
C3151952 3-Methylglutaric aciduria phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system; Abnormal cellular phenotype 2
C4023731 4-5 finger syndactyly disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C1837836 4-5 toe syndactyly phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 4
C1848680 4-hydroxyphenylacetic aciduria phenotype Digestive System Diseases Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1
C1848678 4-Hydroxyphenylpyruvic aciduria phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 2
C4476851 5-minute APGAR score of 1 phenotype Finding Abnormality of prenatal development or birth 1
C4476855 5-minute APGAR score of 5 phenotype Finding Abnormality of prenatal development or birth 1
C1861360 6 metacarpals phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 3