Source: ALL
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: C1857011
Disease: Recurrent mandibular subluxations
Recurrent mandibular subluxations 		phenotype Finding 1 0.100 None 0
CUI: C1857012
Disease: Frontal open bite
Frontal open bite 		phenotype Stomatognathic Diseases Finding 1 0.100 None 0
CUI: C1857013
Disease: Gingival hyperkeratosis
Gingival hyperkeratosis 		disease Disease or Syndrome 1 0.100 None 0
CUI: C4025059
Disease: Abnormality of primary molar morphology
Abnormality of primary molar morphology 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1857021
Disease: Spontaneous neonatal pneumothorax
Spontaneous neonatal pneumothorax 		phenotype Respiratory Tract Diseases Finding 2 0.100 None 0
CUI: C4704742
Disease: Craniofacial Fibrous Dysplasia
Craniofacial Fibrous Dysplasia 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C0005742
Disease: Blepharochalasis
Blepharochalasis 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 4 0.100 None 0
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 5 6 0.760 strong 0.923 13 6 1992 2019
CUI: C0027401
Disease: Narcissism
Narcissism 		phenotype Mental or Behavioral Dysfunction 10 0.010 None 1.000 1 2018 2018
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		phenotype Finding 11 4 0.100 None 0
CUI: C0008767
Disease: Cicatrization
Cicatrization 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 13 3 0.100 None 0
CUI: C0019288
Disease: Hernia, Femoral
Hernia, Femoral 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 18 0.100 None 0
CUI: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel 		phenotype Finding 21 2 0.100 None 0
CUI: C0344529
Disease: Cornea plana
Cornea plana 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 22 2 0.010 None 1.000 1 2018 2018
CUI: C0015944
Disease: Fetal Membranes, Premature Rupture
Fetal Membranes, Premature Rupture 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 22 21 0.100 None 0
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 23 0.100 None 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		phenotype Anatomical Abnormality 25 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		phenotype Clinical Attribute 35 61 0.100 None 1.000 1 1 2018 2018
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		disease Musculoskeletal Diseases Disease or Syndrome 36 9 0.100 None 0
CUI: C2826025
Disease: Mixed phenotype acute leukemia
Mixed phenotype acute leukemia 		disease Neoplastic Process 37 0.010 None 1.000 1 2014 2014
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 38 18 0.040 None 1.000 4 2019 2020
CUI: C0239399
Disease: Short extremities
Short extremities 		phenotype Congenital Abnormality 38 10 0.100 None 0
CUI: C0013528
Disease: Echolalia
Echolalia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 39 4 0.100 None 0