Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 9 11
C0003578 Apnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 7 7
C0856975 Autistic behavior disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 44 76
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
C1865038 Broad toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2 2
C4020740 Clinodactyly of the 4th toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 4 4
C4025741 Clinodactyly of the 5th toe disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4 4
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 40 49
C0232462 Decrease in appetite phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom Abnormality of the digestive system 4 5
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
C1866195 Downturned corners of mouth phenotype Anatomical Abnormality Abnormality of head or neck 12 14
C0013132 Drooling phenotype Stomatognathic Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 14 14
C1867873 Failure to thrive in infancy phenotype Finding Growth abnormality 11 12
C1856963 Fragile nails phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the integument 1 1
C1866231 Full cheeks phenotype Finding Abnormality of head or neck 4 4
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 31 40
C0018672 Head Banging phenotype Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 3 3
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
C0151889 Hyperreflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 16 19
C4023116 Hypoplastic fifth toenail disease Anatomical Abnormality Abnormality of the integument 4 4
C1386048 Intrauterine retardation phenotype Pathologic Function Growth abnormality 41 56
C2939175 Meconium ileus disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 3 5