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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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
G 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
JBrowse link
G Trim36 tripartite motif-containing 36 ISO ClinVar Annotator: match by term: Anencephalus
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
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 OMIM NCBI chr18:38,859,604...38,912,859
Ensembl chr18:38,861,018...38,912,859
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 OMIM NCBI chr13:43,753,454...43,770,604
Ensembl chr13:43,753,832...43,770,604
JBrowse link
Folate-Sensitive Neural Tube Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102551309 uncharacterized LOC102551309 ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive ClinVar NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to
ClinVar Annotator: match by term: Spina bifida, folate-sensitive, susceptibility to
OMIM
ClinVar
PMID:15633187 PMID:16315005 PMID:16552426 PMID:17894836 PMID:18277167 More... NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive
ClinVar Annotator: match by OMIM:601634
OMIM
ClinVar
PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to OMIM
ClinVar
PMID:8968737 PMID:9013615 PMID:10323741 PMID:12154064 PMID:12375236 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to OMIM
ClinVar
PMID:9501215 PMID:10444342 PMID:10500018 PMID:10930360 PMID:12375236 More... NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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 NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394
JBrowse link
G 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
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 OMIM:605013
ClinVar Annotator: match by term: Microhydranencephaly
OMIM
ClinVar
PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25741868 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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 heme transporter 2 ISO ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
ClinVar Annotator: match by OMIM:225790
OMIM
ClinVar
PMID:20206334 PMID:20518025 PMID:20690116 PMID:24033266 PMID:25677735 More... NCBI chr 6:105,408,355...105,472,355
Ensembl chr 6:105,408,339...105,472,353
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Abnormalities, Severe Teratoid 16
            Twins, Conjoined 0
            anencephaly + 16
paths to the root