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encyclopedia of Rare Disease Annotation for Precision Medicine



   pemphigus foliaceus
  

Disease ID 965
Disease pemphigus foliaceus
Definition
Pemphigus foliaceus is an autoimmune blistering disease of the skin with characteristic lesions that are scaly, crusted erosions, often on an erythematous base.[1] Mucosal involvement is absent even with widespread disease.[2] - Wikipedia
Reference: https://en.wikipedia.org/wiki/pemphigus foliaceus
Synonym
foliaceus, pemphigus
pemphigus foliaceous
pemphigus foliaceus (disorder)
pemphigus, foliaceus
pf - pemphigus foliaceous
Orphanet
ICD10
UMLS
C0263313
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:19)
C0030807  |  pemphigus  |  3
C0033860  |  psoriasis  |  2
C0040100  |  thymoma  |  2
C0030805  |  pemphigoid  |  1
C0684249  |  lung carcinoma  |  1
C0600139  |  carcinoma of prostate  |  1
C0001418  |  adenocarcinoma  |  1
C0007112  |  adenocarcinoma of prostate  |  1
C0032285  |  pneumonia  |  1
C0027873  |  neuromyelitis optica  |  1
C0037274  |  dermatosis  |  1
C0023418  |  leukemia  |  1
C0005586  |  bipolar disorder  |  1
C1527407  |  eosinophilic pneumonia  |  1
C0030805  |  bullous pemphigoid  |  1
C0023470  |  myeloid leukemia  |  1
C0030809  |  pemphigus vulgaris  |  1
C0023473  |  chronic myeloid leukemia  |  1
C0409974  |  lupus erythematosus  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:5)
1828  |  DSG1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
3806  |  KIR2DS1  |  CIPHER
3808  |  KIR2DS3  |  CIPHER
3813  |  KIR3DS1  |  CIPHER
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 965
Disease pemphigus foliaceus
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:6)
HP:0010783  |  Erythema
HP:0100792  |  Acantholysis
HP:0200037  |  Skin vesicle
HP:0200041  |  Skin erosion
HP:0008066  |  Abnormal blistering of the skin
HP:0007473  |  Crusting erythematous dermatitis
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:10)
HP:0003765  |  Psoriasis  |  2
HP:0100522  |  Thymoma  |  2
HP:0001909  |  Leukemia  |  1
HP:0007302  |  Bipolar disorder  |  1
HP:0002090  |  Pneumonia  |  1
HP:0012324  |  Myeloid leukemia  |  1
HP:0005506  |  Chronic myeloid leukemia  |  1
HP:0001019  |  Exfoliative dermititis  |  1
HP:0100792  |  Acantholysis  |  1
HP:0030731  |  Carcinoma  |  1
Disease ID 965
Disease pemphigus foliaceus
Manually Symptom
UMLS  | Name(Total Manually Symptoms:11)
C2697391  |  rheumatoid arthritis
C0302424  |  generalized vaccinia
C0265970  |  disseminated superficial actinic porokeratosis
C0263325  |  transient acantholytic dermatosis
C0235025  |  motor peripheral neuropathy
C0038463  |  strongyloidiasis
C0037284  |  skin lesions
C0030809  |  pemphigus vulgaris
C0022504  |  kaposi's varicelliform eruption
C0020676  |  thyroid insufficiency
C0013595  |  eczema
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0008066Abnormal blistering of the skinMP:0009536abnormal interstitial cell of Cajal morphologyany structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which
Mapped by homologous gene(Total Items:6)
HP ID HP Name MP ID MP Name Annotation
HP:0007473Crusting erythematous dermatitisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0100792AcantholysisMP:0013278decreased fasted circulating glucose levelreduction in the amount of glucose in the blood at some defined time point after eating compared to controls
HP:0010783ErythemaMP:0013781abnormal mammary gland luminal epithelium morphologyany structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0200041Skin erosionMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0008066Abnormal blistering of the skinMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0200037Skin vesicleMP:0011094embryonic lethality before implantation, complete penetrancedeath of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)
Disease ID 965
Disease pemphigus foliaceus
Case(Waiting for update.)