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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:abnormal skin morphology
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Accession:MP:0002060 term browser browse the term
Definition:any structural anomaly of the membranous protective covering of the body
Synonyms:exact_synonym: abnormal cutis morphology;   abnormal skin anatomy
 narrow_synonym: skin dysplasia
 xref: Fyler:4133


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abnormal cutaneous collagen fibril morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr1 discoidin domain receptor tyrosine kinase 1 IGI Myh9 NMIIA RGDID 3140 RGD PMID:28199848 RGD:151347403 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468 		JBrowse link
abnormal skin appearance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vdr vitamin D receptor IMP RGD PMID:32231239 RGD:32716373 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka IMP RGD PMID:32231239 RGD:32716373
absent Meibomian glands term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
decreased skin pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator IMP RGD PMID:29959280 RGD:38599145 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060 		JBrowse link
G Aireem1Ang autoimmune regulator; ZFN induced mutant1, Ang IMP RGD PMID:29959280 RGD:38599145
hyperkeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 IAGP DNA:missense mutation:exon 8 (rat) RGD PMID:15617564 RGD:150521562 NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234 		JBrowse link
variable depigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator IMP RGD PMID:29959280 RGD:38599145 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060 		JBrowse link
G Aireem1Ang autoimmune regulator; ZFN induced mutant1, Ang IMP RGD PMID:29959280 RGD:38599145
wrinkled skin term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 IAGP DNA:missense mutation:exon 8 (rat) RGD PMID:15617564 RGD:150521562 NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor IMP RGD PMID:21325752 RGD:150520024 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5422
    integument phenotype 171
      abnormal skin morphology 16
        abnormal cutaneous collagen fibril morphology 1
        abnormal cutaneous elastic fiber morphology + 0
        abnormal dermal layer morphology + 4
        abnormal epidermal layer morphology + 2
        abnormal epidermal-dermal junction morphology + 0
        abnormal head skin morphology + 0
        abnormal neck skin morphology + 0
        abnormal skin appearance + 6
        abnormal skin cell number + 0
        abnormal skin coloration + 4
        abnormal skin condition + 0
        abnormal skin development + 0
        abnormal skin sensory neuron innervation pattern 0
        abnormal skin vasculature morphology 0
        calcified skin 0
        decreased skin tumor incidence 0
        dyskeratosis 0
        increased skin tumor incidence + 0
        skin atrophy + 0
        skin fibrosis 0
paths to the root