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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:hydranencephaly
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Accession:DOID:4626 term browser browse the term
Definition:A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)
Synonyms:exact_synonym: Cerebral Hemispheres, Absence, Congenital;   Congenital Absence of Cerebral Hemispheres;   Hemihydranencephalies;   Hemihydranencephaly;   Hydranencephalies;   Hydranencephaly with Proliferative Vasculopathy
 primary_id: MESH:D006832
 alt_id: RDO:0003417
 xref: GARD:6681;   NCI:C98949
For additional species annotation, visit the Alliance of Genome Resources.


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Hydranencephaly with Renal Aplasia-Dysplasia term browser
Symbol Object Name 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 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 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:25741868 More... 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr2 FLVCR 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: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 18030
    physical disorder 4045
      neural tube defect 125
        anencephaly 16
          hydranencephaly 4
            Hydranencephaly with Renal Aplasia-Dysplasia 2
            Microhydranencephaly 1
            proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        Congenital Abnormalities 6484
          Nervous System Malformations 2028
            neural tube defect 125
              anencephaly 16
                hydranencephaly 4
                  Hydranencephaly with Renal Aplasia-Dysplasia 2
                  Microhydranencephaly 1
                  proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
paths to the root