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: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 2 0.310 None 1.000 1 2 2017 2017
CUI: C0795932
Disease: fontaine syndrome
fontaine syndrome 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C2931653
Disease: Petty Laxova Wiedemann syndrome
Petty Laxova Wiedemann syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2017 2017
CUI: C1835602
Disease: Aplastic/hypoplastic lacrimal glands
Aplastic/hypoplastic lacrimal glands 		phenotype Finding 1 0.100 None 0
CUI: C4023636
Disease: Aplasia/Hypoplasia of the nasal bone
Aplasia/Hypoplasia of the nasal bone 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1850640
Disease: Long eyelashes in irregular rows
Long eyelashes in irregular rows 		phenotype Finding 2 0.100 None 0
CUI: C1861339
Disease: Absent distal phalanges
Absent distal phalanges 		phenotype Finding 2 0.100 None 0
CUI: C3279407
Disease: Hypoplasia of the abdominal wall musculature
Hypoplasia of the abdominal wall musculature 		phenotype Finding 3 0.100 None 0
CUI: C4024667
Disease: Congenital craniofacial dysostosis
Congenital craniofacial dysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 0.100 None 0
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 2 0.620 None 1.000 4 2 2017 2019
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid 		phenotype Disease or Syndrome 6 0.100 None 0
CUI: C0175755
Disease: Congenital absent nipple
Congenital absent nipple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 7 0.100 None 0
CUI: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding) 		phenotype Finding 7 0.100 None 0
CUI: C0432363
Disease: Shagreen patch
Shagreen patch 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Congenital Abnormality 8 0.100 None 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		phenotype Finding 10 2 0.100 None 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 11 0.100 None 0
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling 		phenotype Finding 12 1 0.100 None 0
CUI: C2584409
Disease: Prothrombin G20210A mutation
Prothrombin G20210A mutation 		disease Hemic and Lymphatic Diseases Disease or Syndrome 20 9 0.010 None 1.000 1 2006 2006
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 3 0.100 None 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		phenotype Finding 21 1 0.100 None 0
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group Congenital Abnormality 23 1 0.100 None 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 23 8 0.100 None 0
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		phenotype Finding 27 4 0.100 None 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		disease Congenital Abnormality 33 1 0.100 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		phenotype Finding 34 5 0.100 None 0