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: C0406707
Disease: Basan syndrome
Basan syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 2 0.730 moderate 1.000 4 2 2014 2018
CUI: C4024837
Disease: Congenital palmoplantar keratodermia
Congenital palmoplantar keratodermia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.100 None 0
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		disease Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality 2 3 0.600 None 1.000 1 3 2018 2018
CUI: C0438644
Disease: Dermatoglyphs - skin lines
Dermatoglyphs - skin lines 		disease Congenital Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 4 3 0.600 None 1.000 1 3 2011 2011
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		disease Musculoskeletal Diseases; Respiratory Tract Diseases Congenital Abnormality 5 0.200 None 0
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		disease Disease or Syndrome 5 0.200 None 0
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 6 0.100 None 0
CUI: C4023710
Disease: Palmar hyperkeratosis
Palmar hyperkeratosis 		disease Disease or Syndrome 6 0.100 None 0
CUI: C0150988
Disease: Sclerodactyly
Sclerodactyly 		disease Skin and Connective Tissue Diseases Disease or Syndrome 8 1 0.100 None 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Anatomical Abnormality 20 0.110 None 1.000 1 2018 2018
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 29 116 0.200 None 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		phenotype Finding 29 0.100 None 0
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 0.100 None 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 44 0.100 None 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		phenotype Skin and Connective Tissue Diseases Finding 60 5 0.100 None 0
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 1 0.100 None 0
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 71 16 0.110 None 1.000 1 2018 2018
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		phenotype Finding 87 0.100 None 0