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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:Abnormalities, Severe Teratoid
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Accession:DOID:9004061 term browser browse the term
Definition:Marked developmental anomalies of a fetus or infant.
Synonyms:exact_synonym: Severe Teratoid Abnormality
 primary_id: MESH:D009008;   RDO:0004840

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anencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO RGD PMID:8673125 RGD:734689 NCBI chrNW_004936507:2,775,752...2,797,065
Ensembl chrNW_004936507:2,775,752...2,797,062 		JBrowse link
G 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 More... NCBI chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603 		JBrowse link
G Efna5 ephrin A5 ISO OMIM:206500 MouseDO NCBI chrNW_004936531:2,217,467...2,267,265
Ensembl chrNW_004936531:2,217,368...2,300,794 		JBrowse link
G 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 chrNW_004936572:6,324,481...6,337,121
Ensembl chrNW_004936572:6,323,897...6,333,712 		JBrowse link
G Lmo4 LIM domain only 4 ISO OMIM:206500 MouseDO NCBI chrNW_004936732:1,541,511...1,557,845
Ensembl chrNW_004936732:1,541,515...1,555,735 		JBrowse link
G LOC101956240 cat eye syndrome critical region protein 2 ISO OMIM:206500 MouseDO NCBI chrNW_004936807:498,491...542,503
Ensembl chrNW_004936807:498,789...542,008 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:point mutation:intron:c.-26+755C>A (rs326119) (human) RGD PMID:26045171 RGD:11098877 NCBI chrNW_004936643:379,790...410,034
Ensembl chrNW_004936643:380,968...409,464 		JBrowse link
G 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 chrNW_004936572:6,322,725...6,331,844
Ensembl chrNW_004936572:6,322,727...6,335,599 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618 		JBrowse link
G Trim36 tripartite motif containing 36 ISO ClinVar Annotator: match by term: Anencephaly ClinVar PMID:28087737 NCBI chrNW_004936742:317,095...352,509
Ensembl chrNW_004936742:316,160...361,885 		JBrowse link
Anencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim36 tripartite motif containing 36 ISO ClinVar Annotator: match by term: Anencephaly 1 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004936742:317,095...352,509
Ensembl chrNW_004936742:316,160...361,885 		JBrowse link
Anencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Anencephaly 2 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004936557:7,085,777...7,104,430
Ensembl chrNW_004936557:7,085,719...7,104,443 		JBrowse link
Folate-Sensitive Neural Tube Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive ClinVar NCBI chrNW_004936474:605,492...623,355 JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 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 ClinVar
OMIM		 PMID:15633187 PMID:16315005 PMID:16552426 PMID:17894836 PMID:18277167 More... NCBI chrNW_004936495:8,100,977...8,170,244
Ensembl chrNW_004936495:8,100,912...8,171,800 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive OMIM
ClinVar		 PMID:1522835 PMID:7564788 PMID:7647779 PMID:7726158 PMID:7741859 More... NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to ClinVar
OMIM		 PMID:8968737 PMID:9013615 PMID:10323741 PMID:12154064 PMID:12375236 More... NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to ClinVar
OMIM		 PMID:9501215 PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 More... NCBI chrNW_004936643:379,790...410,034
Ensembl chrNW_004936643:380,968...409,464 		JBrowse link
G Zbtb25 zinc finger and BTB domain containing 25 ISO ClinVar Annotator: match by term: MTHFD1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936495:8,173,577...8,211,718
Ensembl chrNW_004936495:8,192,045...8,199,307 		JBrowse link
hydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Hydranencephaly ClinVar PMID:25558065 PMID:25741868 PMID:25741916 PMID:28556411 NCBI chrNW_004936538:7,856,263...7,868,249
Ensembl chrNW_004936538:7,856,185...7,868,259 		JBrowse link
Hydranencephaly with Renal Aplasia-Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chrNW_004936601:1,455,641...1,474,045
Ensembl chrNW_004936601:1,455,641...1,474,045 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia ClinVar PMID:25741868 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308 		JBrowse link
Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Hydranencephaly and microcephaly OMIM
ClinVar		 PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 More... NCBI chrNW_004936501:3,193,962...3,234,640
Ensembl chrNW_004936501:3,193,916...3,221,700 		JBrowse link
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr2 FLVCR choline and putative heme transporter 2 ISO 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
ClinVar		 PMID:19635601 PMID:20206334 PMID:20518025 PMID:20690116 PMID:24033266 More... NCBI chrNW_004936488:4,653,891...4,713,982
Ensembl chrNW_004936488:4,653,692...4,712,313 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Abnormalities, Severe Teratoid 21
            Conjoined Twins 0
            anencephaly + 21
paths to the root