Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
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
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 89 118
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
C0856975 Autistic behavior disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 44 76
C0036857 Severe intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction genetic disease; disease of mental health Abnormality of the nervous system 43 62
C1386048 Intrauterine retardation phenotype Pathologic Function Growth abnormality 41 56
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 40 49
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 31 40
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 28 54
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 28 34
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
C1866195 Downturned corners of mouth phenotype Anatomical Abnormality Abnormality of head or neck 12 14
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
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 9 11