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: C0025221
Disease: Meleda Disease
Meleda Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 18 15 1.000 strong 0.973 37 11 2001 2019
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.580 strong 1.000 11 2003 2019
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 13 1 0.420 strong 1.000 4 2003 2015
Keratoderma, Palmoplantar, Norrbotten Recessive Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 1.000 1 2014 2014
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 0.200 None 1.000 1 2014 2014
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.200 None 1.000 1 2014 2014
Inherited keratosis palmaris et plantaris
disease Disease or Syndrome 1 0.200 None 1.000 1 2014 2014
Keratosis follicularis [Darier-White]
disease Disease or Syndrome 1 0.200 None 1.000 1 2014 2014
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 5 3 0.200 None 1.000 1 2014 2014
CUI: C0265988
Disease: Congenital accessory skin tag
Congenital accessory skin tag
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.200 None 1.000 1 2014 2014
Other specified congenital malformations of skin
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.200 None 1.000 1 2014 2014
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 35 12 0.200 None 1.000 1 2014 2014
CUI: C0085106
Disease: Familial benign pemphigus
Familial benign pemphigus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 36 12 0.200 None 1.000 1 2014 2014
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder
phenotype Skin and Connective Tissue Diseases Finding 114 7 0.100 None 0
Congenital symmetrical palmoplantar keratosis
disease Congenital Abnormality 1 0.100 None 0
CUI: C1856963
Disease: Fragile nails
Fragile nails
phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 0.100 None 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.100 None 0
CUI: C0038605
Disease: Subungual hyperkeratosis
Subungual hyperkeratosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0221261
Disease: Koilonychia
Koilonychia
phenotype Skin and Connective Tissue Diseases Sign or Symptom 14 0.100 None 0
CUI: C0263537
Disease: Onychogryposis
Onychogryposis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.100 None 0
CUI: C4024891
Disease: Hyperkeratosis with erythema
Hyperkeratosis with erythema
disease Disease or Syndrome 1 0.100 None 0
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 26 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
group Respiratory Tract Diseases Disease or Syndrome 319 144 0.050 None 0.800 5 2017 2020