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: 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
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
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
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
Congenital symmetrical palmoplantar keratosis
disease Congenital Abnormality 1 0.100 None 0
CUI: C4024891
Disease: Hyperkeratosis with erythema
Hyperkeratosis with erythema
disease Disease or Syndrome 1 0.100 None 0
CUI: C4524073
Disease: Low anterior resection syndrome
Low anterior resection syndrome
disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
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: C1840283
Disease: ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C3160821
Disease: Viral uveitis
Viral uveitis
disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0038605
Disease: Subungual hyperkeratosis
Subungual hyperkeratosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma
disease Skin and Connective Tissue Diseases Congenital Abnormality 10 1 0.020 None 1.000 2 2005 2011
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
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: 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: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 18 7 0.010 None 1.000 1 2010 2010
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 240 0.010 None 1.000 1 2018 2018
CUI: C0152227
Disease: Excessive tearing
Excessive tearing
disease Eye Diseases Disease or Syndrome 26 2 0.010 None 1.000 1 2018 2018
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: C1856963
Disease: Fragile nails
Fragile nails
phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 0.100 None 0
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: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 39 6 0.010 None 1.000 1 2013 2013