Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4552072 X-linked infantile spasms disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 8 111
C1456852 Ventouse delivery (finding) phenotype Finding Abnormality of prenatal development or birth 0 3
C4021227 Underdeveloped nasolabial fold phenotype Anatomical Abnormality Abnormality of head or neck 0 2
C1839767 Tented upper lip vermilion phenotype Finding Abnormality of head or neck 0 8
C0423113 Telecanthus phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck 0 14
C0426886 Tapering fingers (finding) phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 0 19
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 0 54
C4310699 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 disease Disease or Syndrome 1 3
C1849043 Soft, doughy skin phenotype Finding Abnormality of the integument 0 4
C0349588 Short stature phenotype Finding Growth abnormality 10 292
C0426848 Sacral dimple phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding Abnormality of the integument; Abnormality of the skeletal system 0 11
C3553450 Profound global developmental delay disease Disease or Syndrome Abnormality of the nervous system 1 19
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 0 23
C1836038 Poor head control phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 0 13
C0265529 Plagiocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 4 11
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 0 118
C1846868 Parkinsonism with favorable response to dopaminergic medication phenotype Nervous System Diseases Finding Abnormality of the nervous system 0 2
C0267071 Oropharyngeal Dysphagia disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 4 8
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 4 83
C1853743 Muscular hypotonia of the trunk phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 2 25
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 5 39
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 0 246
C1838391 Limb hypertonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs; Abnormality of the musculature 0 12
C0948163 Leukoaraiosis phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the nervous system 0 24
C0023221 Leg Length Inequality phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Growth abnormality 0 6