Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2607947 Unilateral deafness disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 1 1
C1840311 Laryngeal cleft disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the respiratory system 1 1
C0265865 Mesocardia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 1 1
C0221766 Diastasis recti disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome Abnormality of the digestive system; Abnormality of the musculature 1 1
C4021830 Bilateral camptodactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1 1
C4021467 Contracture of the proximal interphalangeal joint of the 3rd finger phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1 1
C1849173 Periventricular gray matter heterotopia disease Disease or Syndrome Abnormality of the nervous system 2 3
C4024170 Localized hirsutism phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 2 2
C1857949 Prominent metopic ridge phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 2 2
C0431664 Unilateral Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality Abnormality of the genitourinary system 3 3
C0266491 Neuronal heterotopia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 3
C4022908 Cerebral white matter hypoplasia phenotype Finding Abnormality of the nervous system 3 3
C1865186 Bell-shaped thorax phenotype Finding Abnormality of the skeletal system 5 7
C0023380 Lethargy phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 5 5
C1860819 Metopic synostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 5 5
C0948187 Tracheomalacia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 5 5
C0520680 Sleep Apnea, Central disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 6 7
C0700292 Hypoxemia phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the respiratory system 6 7
C0024636 Malocclusion disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 6 6
C1845251 Facial hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of head or neck; Abnormality of the musculature 6 6
C4023343 Nasogastric tube feeding in infancy phenotype Finding Abnormality of the digestive system 7 9
C0039231 Tachycardia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 7 8
C0409348 Flexion contracture of proximal interphalangeal joint phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 7 7
C0432123 Sagittal craniosynostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 7 7
C0240379 Open mouth (finding) phenotype Finding Abnormality of head or neck 10 11