Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 0 19
C1866134 Wide anterior fontanel phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 0 5
C1835764 Vertebral arch anomaly phenotype Finding Abnormality of the skeletal system 0 1
C0494475 Tonic - clonic seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 104 21
C0426886 Tapering fingers (finding) phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 0 19
C0566899 Small labia majora phenotype Finding Abnormality of the genitourinary system 0 3
C3532947 Severe receptive language delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 0 4
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 0 50
C1851085 Severe expressive language delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 0 7
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 218 417
C1527366 Salaam Seizures disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 6 7
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 0 25
C3553450 Profound global developmental delay disease Disease or Syndrome Abnormality of the nervous system 1 19
C1851833 Premature birth following premature rupture of fetal membranes phenotype Female Urogenital Diseases and Pregnancy Complications Finding Abnormality of prenatal development or birth 0 4
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 11 50
C0266464 Polymicrogyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 2 19
C1844505 Pointed chin phenotype Finding Abnormality of head or neck 1 13
C0029128 Optic Disk Drusen disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 0 3
C1849683 No social interaction phenotype Mental Disorders Finding Abnormality of the nervous system 0 3
C0266491 Neuronal heterotopia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 0 3
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 15 104
C4021765 Morphological abnormality of the central nervous system group Anatomical Abnormality Abnormality of the nervous system 2 7
C3805727 MEGALENCEPHALY, AUTOSOMAL DOMINANT disease Disease or Syndrome 0 5
C1837249 Malformations of Cortical Development, Group II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 2 97
C3806616 Macular hypopigmented whorls, streaks, and patches phenotype Finding Abnormality of the integument 0 1