Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0796137 3C syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 1
C1848680 4-hydroxyphenylacetic aciduria phenotype Digestive System Diseases Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1
C2936420 46, XX Gonadal Sex Reversal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 1
C4479552 46,XX SEX REVERSAL 4 disease Congenital Abnormality 1
C1856273 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality disease of anatomical entity 1
C2748896 46,Xy Gonadal Dysgenesis, Complete, Sry-Related disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 1
C2751325 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 1
C3489793 46,XY Sex Reversal 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality disease of anatomical entity 1
C2752149 46,XY Sex Reversal 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality disease of anatomical entity 1
C3151064 46,XY SEX REVERSAL 6 disease Disease or Syndrome disease of anatomical entity 1
C2748897 46,Xy True Hermaphroditism, Sry-Related disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 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
C0268525 5-oxoprolinase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 1
C1838099 ABCD syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 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
C1860224 ABLEPHARON-MACROSTOMIA SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; syndrome 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