Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 261 181
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 133 505
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 30 74
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 15 164
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 10 48
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 10 42
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 5 192
C0234146 Absent reflex phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 5 16
C1834674 BETHLEM MYOPATHY 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 4 106
C0221263 Cafe-au-Lait Spots phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 3 32
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 0 411
C1837658 Gross motor development delay disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 0 59
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 32
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 0 32
C1860834 Infantile muscular hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 0 24
C0575081 Gait abnormality group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 0 23
C0240421 Progressive muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 0 15
C0409338 Flexion contracture - elbow disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 14
C0151908 Dry skin phenotype Skin and Connective Tissue Diseases Sign or Symptom Abnormality of the integument 0 11
C1849097 Loss of ability to walk phenotype Finding Abnormality of the nervous system 0 11
C0234182 Gowers sign phenotype Finding Abnormality of the musculature 0 8
C0239067 Difficulty walking up stairs phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the musculature 0 7
C1445953 Poor eye contact phenotype Mental Disorders Finding Abnormality of the nervous system 0 6
C0409354 Flexion contracture of hip disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 5
C1844577 Hyperextensibility of the finger joints phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 0 5