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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:holoprosencephaly
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Accession:MP:0005157 term browser browse the term
Definition:presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development
Synonyms:exact_synonym: HPE
 narrow_synonym: Lobar holoprosencephaly
 xref: Fyler:4338;   HP:0001360;   HP:0006870



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holoprosencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1b activin A receptor, type 1B IAGP MGI PMID:16564040 NCBI chr15:101,071,953...101,111,565
Ensembl chr15:101,071,948...101,111,565
JBrowse link
G B9d1 B9 protein domain 1 IAGP MGI PMID:21763481 NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757
JBrowse link
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:14681194 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
JBrowse link
G Boc BOC cell adhesion associated, oncogene regulated IAGP MGI PMID:21183473 PMID:27811357 NCBI chr16:44,305,408...44,379,233
Ensembl chr16:44,305,412...44,379,260
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A IAGP MGI PMID:21725307 NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314
JBrowse link
G Cdc42 cell division cycle 42 IAGP MGI PMID:17050694 NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031
JBrowse link
G Cdon cell adhesion molecule-related/down-regulated by oncogenes IAGP MGI PMID:12620190 PMID:16648472 PMID:17504941 PMID:21183473 NCBI chr 9:35,332,836...35,418,948
Ensembl chr 9:35,332,424...35,418,948
JBrowse link
G Cep164 centrosomal protein 164 IAGP MGI PMID:29244804 NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989
JBrowse link
G Chrd chordin IAGP MGI PMID:10688202 PMID:20508035 NCBI chr16:20,551,528...20,561,132
Ensembl chr16:20,551,877...20,561,134
JBrowse link
G Chtop chromatin target of PRMT1 IEA MGI NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805
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 Cripto cripto, EGF-CFC family member IAGP MGI PMID:16291788 NCBI chr 9:110,768,676...110,775,226
Ensembl chr 9:110,768,671...110,775,226
JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like IAGP MGI PMID:23469164 PMID:25565927 NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298
JBrowse link
G Dctn5 dynactin 5 IEA MGI NCBI chr 7:121,732,264...121,748,267
Ensembl chr 7:121,732,264...121,748,267
JBrowse link
G Dhx35 DEAH-box helicase 35 IEA MGI NCBI chr 2:158,636,674...158,700,141
Ensembl chr 2:158,636,727...158,700,134
JBrowse link
G Disp1 dispatched RND transporter family member 1 IAGP MGI PMID:12421714 PMID:15269168 NCBI chr 1:182,867,828...183,010,257
Ensembl chr 1:182,867,830...183,003,086
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 IEA MGI NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446
JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 IAGP MGI PMID:37228654 NCBI chr12:116,169,881...116,226,665
Ensembl chr12:116,169,882...116,226,642
JBrowse link
G Edil3 EGF-like repeats and discoidin I-like domains 3 IAGP MGI PMID:17468181 PMID:22383895 PMID:25809849 NCBI chr13:88,969,591...89,471,344
Ensembl chr13:88,969,591...89,471,342
JBrowse link
G Eef1a1 eukaryotic translation elongation factor 1 alpha 1 IAGP MGI PMID:25809849 NCBI chr 9:78,385,735...78,389,006
Ensembl chr 9:78,385,731...78,396,433
JBrowse link
G Fat1 FAT atypical cadherin 1 IAGP MGI PMID:12724416 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
JBrowse link
G Foxg1 forkhead box G1 IAGP MGI PMID:17050694 PMID:17470284 PMID:18694563 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644
JBrowse link
G Foxh1 forkhead box H1 IAGP MGI PMID:11358869 NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148
JBrowse link
G Foxp4 forkhead box P4 IAGP MGI PMID:22542185 NCBI chr17:48,178,058...48,235,401
Ensembl chr17:48,178,058...48,235,570
JBrowse link
G Foxq1 forkhead box Q1 IAGP MGI PMID:16109771 NCBI chr13:31,742,153...31,744,959
Ensembl chr13:31,740,117...31,744,959
JBrowse link
G Gas1 growth arrest specific 1 IAGP MGI PMID:17504940 PMID:17504941 PMID:17525797 PMID:27811357 NCBI chr13:60,322,219...60,325,179
Ensembl chr13:60,322,219...60,325,179
JBrowse link
G Gdf1 growth differentiation factor 1 IAGP MGI PMID:16564040 NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
JBrowse link
G Hhat hedgehog acyltransferase IAGP MGI PMID:15075292 NCBI chr 1:192,195,133...192,453,546
Ensembl chr 1:192,179,019...192,453,531
JBrowse link
G Hic1 hypermethylated in cancer 1 IAGP MGI PMID:10655551 NCBI chr11:75,052,203...75,059,970
Ensembl chr11:75,055,391...75,060,345
JBrowse link
G Ift172 intraflagellar transport 172 IAGP MGI PMID:18930042 NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460
JBrowse link
G Katnb1 katanin p80 (WD40-containing) subunit B 1 IAGP MGI PMID:25521379 NCBI chr 8:95,807,804...95,826,502
Ensembl chr 8:95,807,814...95,829,777
JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 IAGP MGI PMID:8710893 PMID:20531455 PMID:22555591 NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409
JBrowse link
G Morc2a microrchidia 2A IEA MGI NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477
JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP MGI PMID:18385133 NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722
JBrowse link
G Ndst3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 IAGP MGI PMID:18385133 NCBI chr 3:123,319,815...123,484,822
Ensembl chr 3:123,319,815...123,484,502
JBrowse link
G Nodal nodal growth differentiation factor IAGP MGI PMID:11311163 PMID:16564040 PMID:20508035 PMID:22383895 NCBI chr10:61,253,751...61,261,117
Ensembl chr10:61,253,751...61,261,117
JBrowse link
G Nog noggin IAGP MGI PMID:10688202 PMID:20508035 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
JBrowse link
G Nosip nitric oxide synthase interacting protein IAGP MGI PMID:25546391 NCBI chr 7:44,711,840...44,727,927
Ensembl chr 7:44,711,853...44,727,634
JBrowse link
G Pgap1 post-GPI attachment to proteins 1 IAGP MGI PMID:23213481 NCBI chr 1:54,512,159...54,596,843
Ensembl chr 1:54,512,153...54,596,843
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N IAGP MGI PMID:23213481 NCBI chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402
JBrowse link
G Prdm15 PR domain containing 15 IAGP MGI PMID:31950080 NCBI chr16:97,592,720...97,653,076
Ensembl chr16:97,592,667...97,653,050
JBrowse link
G Psph phosphoserine phosphatase IEA MGI NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513
JBrowse link
G Ptch1 patched 1 IAGP MGI PMID:11668681 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
JBrowse link
G Rpgrip1l Rpgrip1-like IEA MGI NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890
JBrowse link
G Shh sonic hedgehog IAGP MGI PMID:12195432 PMID:12756179 PMID:15075292 PMID:15105374 PMID:15269168 More... NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
JBrowse link
G Six3 sine oculis-related homeobox 3 IAGP MGI PMID:18694563 NCBI chr17:85,921,036...85,933,619
Ensembl chr17:85,921,036...85,936,730
JBrowse link
G Smad2 SMAD family member 2 IAGP MGI PMID:15183723 PMID:15630024 PMID:22383895 NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034
JBrowse link
G Smad3 SMAD family member 3 IAGP MGI PMID:15183723 PMID:20508035 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276
JBrowse link
G Smo smoothened, frizzled class receptor IAGP MGI PMID:25760946 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
JBrowse link
G Sox4 SRY (sex determining region Y)-box 4 IAGP MGI PMID:16109771 NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696
JBrowse link
G Sp8 trans-acting transcription factor 8 IAGP MGI PMID:17470284 NCBI chr12:118,809,968...118,816,313
Ensembl chr12:118,810,064...118,816,311
JBrowse link
G Stil Scl/Tal1 interrupting locus IAGP MGI PMID:10385121 PMID:11668681 NCBI chr 4:114,857,287...114,900,404
Ensembl chr 4:114,857,356...114,900,393
JBrowse link
G Tctn1 tectonic family member 1 IAGP MGI PMID:16357211 NCBI chr 5:122,377,558...122,402,557
Ensembl chr 5:122,375,911...122,402,523
JBrowse link
G Tctn3 tectonic family member 3 IAGP MGI PMID:28800946 NCBI chr19:40,584,890...40,600,768
Ensembl chr19:40,584,890...40,600,677
JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 IAGP MGI PMID:17082251 PMID:22383895 NCBI chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541
JBrowse link
G Tgif2 TGFB-induced factor homeobox 2 IAGP MGI PMID:22383895 NCBI chr 2:156,681,737...156,697,490
Ensembl chr 2:156,681,927...156,697,490
JBrowse link
G Trappc10 trafficking protein particle complex 10 IEA MGI NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475
JBrowse link
G Ttbk2 tau tubulin kinase 2 IAGP MGI PMID:23141541 PMID:30532139 NCBI chr 2:120,563,297...120,681,111
Ensembl chr 2:120,563,297...120,681,085
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 IAGP MGI PMID:14681194 NCBI chr17:66,230,060...66,258,198
Ensembl chr17:66,228,967...66,258,221
JBrowse link
G Vax1 ventral anterior homeobox 1 IAGP MGI PMID:10601036 NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488
JBrowse link
G Wdr11 WD repeat domain 11 IAGP MGI PMID:29263200 NCBI chr 7:129,193,373...129,237,462
Ensembl chr 7:129,193,587...129,237,462
JBrowse link
G Zic2 zinc finger protein of the cerebellum 2 IAGP MGI PMID:10677508 PMID:18617531 NCBI chr14:122,712,796...122,717,740
Ensembl chr14:122,712,847...122,717,264
JBrowse link
alobar holoprosencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spry2 sprouty RTK signaling antagonist 2 IAGP MGI PMID:17156747 NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253
JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 IAGP MGI PMID:17156747 NCBI chr18:38,719,300...38,734,400
Ensembl chr18:38,719,300...38,734,468
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 IAGP MGI PMID:15013800 NCBI chr17:66,230,060...66,258,198
Ensembl chr17:66,228,967...66,258,221
JBrowse link
G Zic2 zinc finger protein of the cerebellum 2 IAGP MGI PMID:29992973 NCBI chr14:122,712,796...122,717,740
Ensembl chr14:122,712,847...122,717,264
JBrowse link
ethmocephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otx2 orthodenticle homeobox 2 IAGP MGI PMID:7590242 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276
JBrowse link
lobar holoprosencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Boc BOC cell adhesion associated, oncogene regulated IAGP MGI PMID:21183473 NCBI chr16:44,305,408...44,379,233
Ensembl chr16:44,305,412...44,379,260
JBrowse link
G Cdon cell adhesion molecule-related/down-regulated by oncogenes IAGP MGI PMID:21183473 NCBI chr 9:35,332,836...35,418,948
Ensembl chr 9:35,332,424...35,418,948
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
semilobar holoprosencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mks1 MKS transition zone complex subunit 1 IAGP MGI PMID:23454480 NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629
JBrowse link
G Tmem67 transmembrane protein 67 IAGP MGI PMID:23283079 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17090
    nervous system phenotype 4651
      abnormal nervous system morphology 3675
        abnormal nervous system development 1586
          abnormal brain development 831
            holoprosencephaly 67
              alobar holoprosencephaly 4
              ethmocephaly 1
              lobar holoprosencephaly 3
              semilobar holoprosencephaly 2
paths to the root