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
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
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
C4023736 2-5 finger syndactyly phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C1848680 4-hydroxyphenylacetic aciduria phenotype Digestive System Diseases Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1
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
C0232488 Abdominal colic phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding Abnormality of the digestive system; Constitutional symptom 1
C4531036 Abdominal situs ambiguus phenotype Anatomical Abnormality Abnormality of the digestive system; Growth abnormality 1
C0238577 Abdominal wall defect group Congenital Abnormality physical disorder Abnormality of the digestive system 1
C1969516 Aberrant melanosome maturation phenotype Finding Abnormality of the integument 1
C2004632 aberrant right subclavian artery disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 1
C4023126 Abnormal activity of mitochondrial respiratory chain phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 1
C4023036 Abnormal albumin level phenotype Finding Abnormality of metabolism/homeostasis 1
C4022863 Abnormal alpha granule content phenotype Anatomical Abnormality Abnormality of blood and blood-forming tissues 1
C4025834 Abnormal amplitude of pattern reversal visual evoked potentials phenotype Finding Abnormality of the eye 1
C4021748 Abnormal B cell morphology disease Finding Abnormality of the immune system; Abnormality of blood and blood-forming tissues 1
C4476997 Abnormal B-type natriuretic peptide level phenotype Finding Abnormality of metabolism/homeostasis 1
C4476564 Abnormal brain lactate level by MRS phenotype Finding Abnormality of the nervous system 1
C4476771 Abnormal bronchus physiology phenotype Finding Abnormality of the respiratory system 1
C4025752 Abnormal cardiac ventricle morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality Abnormality of the cardiovascular system 1