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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:face hypoplasia
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Accession:MP:0030065 term browser browse the term
Definition:decrease in the number of normal cells in normal arrangement in the face, typically resulting in decreased size
Synonyms:exact_synonym: facial hypoplasia;   hypoplastic face



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face hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:24700590 PMID:32541010 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D IAGP MGI PMID:32541010 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
JBrowse link
G Mau2 MAU2 sister chromatid cohesion factor IAGP MGI PMID:24700590 NCBI chr 8:70,465,896...70,495,384
Ensembl chr 8:70,468,773...70,495,384
JBrowse link
G Nipbl NIPBL cohesin loading factor IAGP MGI PMID:24700590 NCBI chr15:8,319,308...8,494,799
Ensembl chr15:8,320,101...8,473,947
JBrowse link
hemifacial hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata3 GATA binding protein 3 IAGP MGI PMID:34383890 NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 IAGP MGI PMID:17127413 NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096
JBrowse link
midface hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 IAGP MGI PMID:35127681 NCBI chr10:102,834,564...102,865,501
Ensembl chr10:102,834,568...102,866,076
JBrowse link
G Ankrd11 ankyrin repeat domain 11 IAGP MGI PMID:33996804 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
JBrowse link
G Arl6 ADP-ribosylation factor-like 6 IAGP MGI PMID:27170093 NCBI chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754
JBrowse link
G Bcl11b B cell leukemia/lymphoma 11B IAGP MGI PMID:23727454 NCBI chr12:107,876,662...107,970,404
Ensembl chr12:107,876,662...107,969,861
JBrowse link
G Bmp7 bone morphogenetic protein 7 IAGP MGI PMID:33431521 NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114
JBrowse link
G Bmpr1a bone morphogenetic protein receptor, type 1A IAGP MGI PMID:20730911 NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298
JBrowse link
G Cdk13 cyclin dependent kinase 13 IAGP MGI PMID:31440507 NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682
JBrowse link
G Col2a1 collagen, type II, alpha 1 IAGP MGI PMID:20730911 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
JBrowse link
G Dicer1 dicer 1, ribonuclease type III IAGP MGI PMID:23716939 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211
JBrowse link
G E2f1 E2F transcription factor 1 IAGP MGI PMID:33996804 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
JBrowse link
G E330023G01Rik RIKEN cDNA E330023G01 gene IAGP MGI PMID:24565867 NCBI chr 9:98,630,652...98,702,140
Ensembl chr 9:98,630,652...98,702,140
JBrowse link
G Fgf9 fibroblast growth factor 9 IAGP MGI PMID:12140681 NCBI chr14:58,308,543...58,350,311
Ensembl chr14:58,308,004...58,350,177
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IAGP MGI PMID:10942429 PMID:21538817 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IAGP MGI PMID:14499350 PMID:18242159 PMID:21538817 PMID:22585574 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MGI PMID:19073250 PMID:28230213 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 IAGP MGI PMID:19383940 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790
JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 IAGP MGI PMID:21507892 PMID:21931569 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,164...82,970,576
JBrowse link
G Gas1 growth arrest specific 1 IAGP MGI PMID:17525797 NCBI chr13:60,322,219...60,325,179
Ensembl chr13:60,322,219...60,325,179
JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:22156581 PMID:33431521 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
JBrowse link
G Hcfc1 host cell factor C1 IAGP MGI PMID:35013307 NCBI chr  X:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963
JBrowse link
G Ift27 intraflagellar transport 27 IAGP MGI PMID:25446516 NCBI chr15:78,043,660...78,058,281
Ensembl chr15:78,043,663...78,058,307
JBrowse link
G Jag1 jagged 1 IAGP MGI PMID:22156581 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
JBrowse link
G Nipbl NIPBL cohesin loading factor IAGP MGI PMID:19763162 NCBI chr15:8,319,308...8,494,799
Ensembl chr15:8,320,101...8,473,947
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 IAGP MGI PMID:14745966 NCBI chr13:53,263,353...53,440,160
Ensembl chr13:53,263,348...53,440,160
JBrowse link
G Vax1 ventral anterior homeobox 1 IAGP MGI PMID:28771384 NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16725
    growth/size/body region phenotype 6937
      abnormal head morphology 1330
        abnormal facial morphology 1086
          abnormal face size 56
            small face 50
              face hypoplasia 29
                hemifacial hypoplasia 2
                midface hypoplasia 25
paths to the root