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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 facial morphology
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Accession:MP:0003743 term browser browse the term
Definition:any structural anomaly of the face
Synonyms:broad_synonym: Abnormality of the face
 xref: HP:0000271



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abnormal enamel development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator IMP RGD PMID:31942562 RGD:126928119 NCBI chr 4:47,422,084...47,694,646 JBrowse link
G Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang IMP RGD PMID:31942562 RGD:126928119
G Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang IMP RGD PMID:31942562 RGD:126928119
abnormal incisor color term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfe2l2 NFE2 like bZIP transcription factor 2 IMP RGD PMID:27071940 RGD:12910550 NCBI chr 3:81,001,529...81,031,165 JBrowse link
G Nfe2l2em1Kyo nuclear factor, erythroid 2-like 2; zinc finger nuclease induced mutant 1, Kyoto University IMP RGD PMID:27071940 RGD:12910550
G Nfe2l2em2Kyo nuclear factor, erythroid 2-like 2; zinc finger nuclease induced mutant 2, Kyoto University IMP RGD PMID:27071940 RGD:12910550
abnormal molar cusp morphology term browser
Symbol Object Name Qualifiers 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 JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
abnormal nasal mucosa morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator IMP RGD PMID:24608905 RGD:11566051 NCBI chr 4:47,422,084...47,694,646 JBrowse link
G Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage IMP RGD PMID:24608905 RGD:11566051
abnormal nose morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 IAGP RGD PMID:7981749 RGD:1601213 NCBI chr 3:92,128,772...92,157,022 JBrowse link
G Pax6Sey paired box gene 6, small eye mutation IAGP RGD PMID:7981749 RGD:1601213
abnormal tongue morphology term browser
Symbol Object Name Qualifiers 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 JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
abnormal tooth color term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator IMP RGD PMID:24608905 RGD:11566051 NCBI chr 4:47,422,084...47,694,646 JBrowse link
G Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage IMP RGD PMID:24608905 RGD:11566051
absent teeth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1 colony stimulating factor 1 IAGP RGD PMID:12379742 RGD:628338 NCBI chr 2:198,065,400...198,084,774 JBrowse link
G Csf1tl colony stimulating factor 1; tooth less mutant IAGP RGD PMID:12379742 RGD:628338
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:33450391 RGD:126781687 NCBI chr18:56,834,152...56,860,804 JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:33450391 RGD:126781687
increased tongue size term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP compared to Wild type RGD PMID:29979634 RGD:401976416 NCBI chr  X:102,062,497...102,073,915 JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to Wild type RGD PMID:29979634 RGD:401976416
long tongue term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP compared to Wild type RGD PMID:29979634 RGD:401976416 NCBI chr  X:102,062,497...102,073,915 JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to Wild type RGD PMID:29979634 RGD:401976416
malocclusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 sexual_dimorphism IMP compared to female heterozygote mutant RGD PMID:27313794 PMID:27329765 RGD:11568037, RGD:40924662 NCBI chr  X:156,932,481...156,995,981 JBrowse link
G Mecp2em1Sage methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs sexual_dimorphism IMP compared to female heterozygote mutant RGD PMID:27329765 PMID:27313794 RGD:40924662, RGD:11568037
microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:30249809 RGD:41404725 NCBI chr18:56,834,152...56,860,804 JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:30249809 RGD:41404725
supernumerary incisors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 IAGP RGD PMID:16795023 RGD:12790971 NCBI chr 3:92,128,772...92,157,022 JBrowse link
G Pax6Sey2 paired box gene 6, small eye mutation 2 IAGP RGD PMID:16795023 RGD:12790971

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5421
    growth/size/body region phenotype 839
      abnormal head morphology 55
        abnormal facial morphology 46
          abnormal chin morphology + 0
          abnormal face development + 0
          abnormal face shape + 0
          abnormal face size + 0
          abnormal facial muscle morphology + 0
          abnormal facial skin morphology + 0
          abnormal forehead morphology + 0
          abnormal midface morphology + 0
          abnormal mouth morphology + 45
          abnormal nose morphology + 5
          abnormal paranasal sinus morphology + 0
          abnormal periorbital region morphology + 0
          abnormal snout morphology + 0
          facial cleft + 0
          increased facial tumor incidence + 11
          taut facial appearance 0
paths to the root