Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0426891 Broad thumbs phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 9 11
C1859778 Postnatal growth retardation phenotype Finding Growth abnormality 7 11
C0003578 Apnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 7 7
C0265535 Trigonocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system 6 6
C0231835 Tachypnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding Abnormality of the respiratory system 4 5
C0232462 Decrease in appetite phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom Abnormality of the digestive system 4 5
C4025741 Clinodactyly of the 5th toe disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4 4
C1866231 Full cheeks phenotype Finding Abnormality of head or neck 4 4
C4020740 Clinodactyly of the 4th toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 4 4
C4021959 Round ear disease Anatomical Abnormality Abnormality of the ear 4 4
C4023116 Hypoplastic fifth toenail disease Anatomical Abnormality Abnormality of the integument 4 4
C2939175 Meconium ileus disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 3 5
C0018672 Head Banging phenotype Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 3 3
C1856202 U-Shaped upper lip vermilion phenotype Finding Abnormality of head or neck 2 2
C1865038 Broad toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2 2
C1858539 Shawl scrotum phenotype Congenital Abnormality Abnormality of the genitourinary system 2 2
C1856963 Fragile nails phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the integument 1 1
C0019825 Hoarseness phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom Abnormality of the voice 1 1