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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:anencephaly
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Accession:MP:0001890 term browser browse the term
Definition:anomaly that occurs when the anterior neuropore of the neural tube fails to close, resulting in the congenital partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp; in affected organisms, the forebrain remains in contact with the amniotic fluid and subsequently degenerates, including the cerebrum (areas responsible for cognition); any remaining brain tissue, such as the brain stem, is often exposed
Synonyms:exact_synonym: anencephalia
 alt_id: MP:0000915
 xref: Fyler:4332


show annotations for term's descendants           Sort by:
anencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card10 caspase recruitment domain family, member 10 IAGP MGI PMID:17438001 NCBI chr15:78,659,323...78,687,261
Ensembl chr15:78,659,338...78,687,242 		JBrowse link
G Dlx5 distal-less homeobox 5 IAGP MGI PMID:12434331 NCBI chr 6:6,877,801...6,882,068
Ensembl chr 6:6,877,805...6,882,085 		JBrowse link
G Dlx6 distal-less homeobox 6 IAGP MGI PMID:12434331 NCBI chr 6:6,863,272...6,867,965
Ensembl chr 6:6,863,334...6,868,568 		JBrowse link
G Efna5 ephrin A5 IAGP MGI PMID:11089974 NCBI chr17:62,909,949...63,188,431
Ensembl chr17:62,911,179...63,188,312 		JBrowse link
G Enah ENAH actin regulator IAGP MGI PMID:10069337 NCBI chr 1:181,723,949...181,848,132
Ensembl chr 1:181,723,949...181,847,555 		JBrowse link
G Epha7 Eph receptor A7 IAGP MGI PMID:11089974 NCBI chr 4:28,811,840...28,969,391
Ensembl chr 4:28,813,131...28,967,499 		JBrowse link
G Foxh1 forkhead box H1 IEA MGI NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148 		JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 IAGP MGI PMID:32324833 NCBI chr 5:115,703,177...115,760,713
Ensembl chr 5:115,703,313...115,760,713 		JBrowse link
G Grhl3 grainyhead like transcription factor 3 IEA MGI NCBI chr 4:135,269,199...135,300,943
Ensembl chr 4:135,269,199...135,300,941 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:14975722 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 IAGP MGI PMID:8543157 NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E IAGP MGI PMID:19668215 NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Lmo4 LIM domain only 4 IAGP MGI PMID:14966285 NCBI chr 3:143,894,291...143,911,016
Ensembl chr 3:143,894,291...143,910,981 		JBrowse link
G Luzp1 leucine zipper protein 1 IAGP MGI PMID:18801334 NCBI chr 4:136,189,892...136,282,036
Ensembl chr 4:136,197,072...136,282,091 		JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IEA MGI NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G Otx2 orthodenticle homeobox 2 IAGP MGI PMID:11532921 PMID:11820816 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pfn1 profilin 1 IAGP MGI PMID:10069337 NCBI chr11:70,542,670...70,547,625
Ensembl chr11:70,542,676...70,545,470 		JBrowse link
G Rapgef2 Rap guanine nucleotide exchange factor (GEF) 2 IAGP MGI PMID:17826737 NCBI chr 3:78,969,818...79,194,681
Ensembl chr 3:78,969,823...79,193,824 		JBrowse link
G Rpl38 ribosomal protein L38 IAGP MGI PMID:465735 NCBI chr11:114,558,644...114,563,159
Ensembl chr11:114,559,350...114,563,157 		JBrowse link
G Tet1 tet methylcytosine dioxygenase 1 IAGP MGI PMID:26989192 NCBI chr10:62,640,349...62,723,242
Ensembl chr10:62,640,349...62,744,775 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:8622766 PMID:14975722 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Tiam1 T cell lymphoma invasion and metastasis 1 IAGP MGI PMID:22661025 NCBI chr16:89,583,999...89,942,488
Ensembl chr16:89,583,999...89,940,657 		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 Zic2 zinc finger protein of the cerebellum 2 IAGP MGI PMID:10677508 NCBI chr14:122,712,796...122,717,740
Ensembl chr14:122,712,847...122,717,264 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 IAGP MGI PMID:11959836 NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		JBrowse link
meroanencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 IAGP MGI PMID:8673125 NCBI chr10:102,834,564...102,865,501
Ensembl chr10:102,834,568...102,866,076 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 IAGP MGI PMID:8055142 NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17096
    nervous system phenotype 4654
      abnormal nervous system morphology 3677
        abnormal nervous system development 1586
          anencephaly 27
            meroanencephaly 2
paths to the root