Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia
disease Stomatognathic Diseases Congenital Abnormality 9 0.100 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
phenotype Anatomical Abnormality 135 0.100 0
CUI: C0005741
Disease: Blepharitis
Blepharitis
disease Eye Diseases Disease or Syndrome 25 0.100 0
CUI: C1969236
Disease: Mitten deformity
Mitten deformity
disease Congenital Abnormality 3 0.100 0
CUI: C0241054
Disease: Skin bullae
Skin bullae
phenotype Finding 67 6 0.100 0
CUI: C1850530
Disease: Flexion contractures of joints
Flexion contractures of joints
phenotype Anatomical Abnormality 134 0.100 0
CUI: C1844555
Disease: Absent toenail
Absent toenail
disease Congenital Abnormality 10 0.100 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail
disease Congenital Abnormality 10 0.100 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 51 0.100 0
CUI: C0011334
Disease: Dental caries
Dental caries
disease Stomatognathic Diseases Disease or Syndrome 169 25 0.100 0
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction
disease Respiratory Tract Diseases Disease or Syndrome 32 0.300 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
phenotype Endocrine System Diseases Pathologic Function 129 15 0.100 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 190 4 0.100 0
CUI: C0237326
Disease: Dyschezia
Dyschezia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 177 0.100 0
CUI: C0009806
Disease: Constipation
Constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 207 7 0.100 0
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 13 0.300 0
CUI: C0747078
Disease: Generalized osteopenia
Generalized osteopenia
disease Disease or Syndrome 144 3 0.100 0
CUI: C0026034
Disease: Microstomia
Microstomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 106 0.100 0
CUI: C4316878
Disease: Loss of eyelashes
Loss of eyelashes
phenotype Finding 4 0.100 0
CUI: C2220104
Disease: Skin blisters
Skin blisters
phenotype Finding 66 0.100 0
CUI: C0013592
Disease: Ectropion
Ectropion
disease Eye Diseases Disease or Syndrome 29 0.100 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus
phenotype Anatomical Abnormality 8 1 0.100 0
CUI: C0392163
Disease: Corneal erosion
Corneal erosion
disease Disease or Syndrome 23 0.100 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst
phenotype Anatomical Abnormality 18 0.100 0
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis
disease Digestive System Diseases Disease or Syndrome 20 1 0.100 0