Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
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
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
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
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
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
C1867131 Broad hallux phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 9 14
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 9 11
C0426891 Broad thumbs phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 9 11
C1844813 Widely spaced teeth phenotype Finding Abnormality of head or neck 10 10
C1867873 Failure to thrive in infancy phenotype Finding Growth abnormality 11 12
C0424711 Orbital separation diminished phenotype Finding Abnormality of the eye 11 11
C1836543 Thick vermilion border phenotype Finding Abnormality of head or neck 12 15
C1866195 Downturned corners of mouth phenotype Anatomical Abnormality Abnormality of head or neck 12 14