RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: anencephaly
Accession: DOID:0060668
browse the term
Definition: A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. (DO)
Synonyms: exact_synonym: ANPH; Aprosencephaly; anencephalia; anencephalias; anencephalus; aprosencephalies; brain congenital absence; congenital absence of brain; hemicranial anencephaly; incomplete anencephaly; partial anencephalies; partial anencephaly
primary_id: MESH:D000757
xref: GARD:5808 ; ICD10CM:Q00.0 ; NCI:C84560 ; OMIM:PS206500 ; ORDO:1048
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Alx1
ALX homeobox 1
ISO
RGD
PMID:8673125
RGD:734689
NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Anencephaly
ClinVar
PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 PMID:28492532 More...
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cecr2
CECR2, histone acetyl-lysine reader
ISS
OMIM:206500
MouseDO
NCBI chr 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451
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Efna5
ephrin A5
ISS
OMIM:206500
MouseDO
NCBI chr 9:102,316,753...102,595,480
Ensembl chr 9:102,320,295...102,597,413
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Hyls1
HYLS1, centriolar and ciliogenesis associated
ISO
ClinVar Annotator: match by term: Anencephalus | ClinVar Annotator: match by term: Anencephaly
ClinVar
PMID:25741868 PMID:27055666 PMID:31680349
NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760
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Lmo4
LIM domain only 4
ISS
OMIM:206500
MouseDO
NCBI chr 2:233,264,180...233,280,881
Ensembl chr 2:233,264,182...233,280,880
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:point mutation:intron:c.-26+755C>A (rs326119) (human)
RGD
PMID:26045171
RGD:11098877
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Pus3
pseudouridine synthase 3
ISO
ClinVar Annotator: match by term: Anencephalus | ClinVar Annotator: match by term: Anencephaly
ClinVar
PMID:25741868 PMID:27055666 PMID:31680349
NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
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Rpgrip1l
Rpgrip1-like
ISO
associated with Meckel Syndrome, Type 5;DNA:mutations:exons:
RGD
PMID:17558409
RGD:11073359
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Trim36
tripartite motif-containing 36
ISO
ClinVar Annotator: match by term: Anencephaly CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:28087737
NCBI chr18:38,859,604...38,912,859
Ensembl chr18:38,861,018...38,912,859
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Trim36
tripartite motif-containing 36
ISO
ClinVar Annotator: match by term: Anencephaly 1
OMIM ClinVar
PMID:25741868
NCBI chr18:38,859,604...38,912,859
Ensembl chr18:38,861,018...38,912,859
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Nuak2
NUAK family kinase 2
ISO
ClinVar Annotator: match by term: Anencephaly 2
OMIM ClinVar
PMID:25741868
NCBI chr13:43,753,454...43,770,604
Ensembl chr13:43,753,832...43,770,604
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C5h1orf167
similar to human chromosome 1 open reading frame 167
ISO
ClinVar Annotator: match by term: Neural tube defects, folate-sensitive
ClinVar
NCBI chr 5:158,495,514...158,505,671
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility
ISO
ClinVar Annotator: match by term: MTHFD1-related condition | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to | ClinVar Annotator: match by term: Spina bifida, folate-sensitive, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:15633187 PMID:16315005 PMID:16552426 PMID:17894836 PMID:18277167 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neural tube defects, folate-sensitive
CTD ClinVar OMIM
PMID:1522835 PMID:7564788 PMID:7647779 PMID:7726158 PMID:7741859 PMID:7920641 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8940272 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9536098 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9781030 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10551815 PMID:10677336 PMID:10679944 PMID:10732818 PMID:10767000 PMID:10869114 PMID:10923034 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11395038 PMID:11418485 PMID:11590551 PMID:11710708 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12673793 PMID:12733064 PMID:12796225 PMID:12915598 PMID:15048559 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16172608 PMID:16199547 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17284634 PMID:17350979 PMID:17409006 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17576681 PMID:17726486 PMID:17898028 PMID:18381794 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18854913 PMID:19031955 PMID:19648163 PMID:19810817 PMID:20154341 PMID:20236116 PMID:20356773 PMID:20472929 PMID:20514079 PMID:20595278 PMID:20863444 PMID:21480888 PMID:21534867 PMID:21644011 PMID:21778025 PMID:21931346 PMID:22074251 PMID:22143415 PMID:22887477 PMID:22947400 PMID:22992668 PMID:23089671 PMID:23095111 PMID:23488607 PMID:23526309 PMID:23648444 PMID:24241962 PMID:24797679 PMID:24997712 PMID:25007187 PMID:25024447 PMID:25079578 PMID:25110820 PMID:25162892 PMID:25177243 PMID:25227144 PMID:25736335 PMID:25741868 PMID:25778468 PMID:26025547 PMID:26872964 PMID:26898294 PMID:27104192 PMID:27118298 PMID:27217051 PMID:27399166 PMID:27743313 PMID:27781293 PMID:27992285 PMID:28241805 PMID:28492532 PMID:28514598 PMID:28696419 PMID:29246599 PMID:29391032 PMID:29589488 PMID:29911750 PMID:30684021 PMID:31068897 PMID:32161077 PMID:32451826 PMID:32612964 PMID:32695297 PMID:32939339 PMID:33089527 PMID:33125268 PMID:34015165 PMID:34214447 PMID:34845156 PMID:35008593 PMID:35322348 PMID:35499206 PMID:35578252 PMID:36901693 More...
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
ClinVar Annotator: match by term: Neural tube defects, folate-sensitive CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:8968737 PMID:9013615 PMID:10323741 PMID:12154064 PMID:12375236 PMID:12923861 PMID:25227144 PMID:25741868 PMID:28492532 More...
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to
CTD OMIM ClinVar
PMID:9501215 PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12555939 PMID:12923861 PMID:12971424 PMID:15714522 PMID:15979034 PMID:16199547 PMID:20120036 PMID:22887477 PMID:24033266 PMID:25227144 PMID:25526710 PMID:25741868 PMID:25978498 PMID:28492532 PMID:30041674 PMID:33980297 More...
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Cep55
centrosomal protein 55
ISO
ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia
ClinVar
PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 PMID:32100459 More...
NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394
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Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia
ClinVar
PMID:25741868
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: Hydranencephaly and microcephaly CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 PMID:25741868 PMID:28492532 PMID:30637988 More...
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Flvcr2
FLVCR choline and putative heme transporter 2
ISO ISS
OMIM:225790 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fowler syndrome | ClinVar Annotator: match by term: HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY | ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
OMIM MouseDO CTD ClinVar
PMID:19635601 PMID:20206334 PMID:20518025 PMID:20690116 PMID:24033266 PMID:25677735 PMID:25741868 PMID:28492532 PMID:32369449 More...
NCBI chr 6:105,408,355...105,472,355
Ensembl chr 6:105,408,339...105,472,353
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