Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1866195 Downturned corners of mouth phenotype Anatomical Abnormality Abnormality of head or neck 12 14
C4025741 Clinodactyly of the 5th toe disease Anatomical Abnormality 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
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 46 52
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
C1858539 Shawl scrotum phenotype Congenital Abnormality Abnormality of the genitourinary system 2 2
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 89 118
C2939175 Meconium ileus disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 3 5
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 124 192
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 28 34
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 28 54
C1861324 Short philtrum phenotype Finding Abnormality of head or neck 24 25
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C1839758 Narrow forehead phenotype Finding Abnormality of head or neck 19 20
C0151889 Hyperreflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 16 19
C0013132 Drooling phenotype Stomatognathic Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 14 14
C1836543 Thick vermilion border phenotype Finding Abnormality of head or neck 12 15
C1867873 Failure to thrive in infancy phenotype Finding Growth abnormality 11 12
C0424711 Orbital separation diminished phenotype Finding Abnormality of the eye 11 11
C1844813 Widely spaced teeth phenotype Finding Abnormality of head or neck 10 10
C1867131 Broad hallux phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 9 14
C0426891 Broad thumbs phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 9 11