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RGD uses the Human Disease Ontology (DO, 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:Proud Syndrome
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Accession:DOID:9005060 term browser browse the term
Synonyms:exact_synonym: ACC With Abnormal Genitalia;   ACC-abnormal genitalia syndrome;   PROUD LEVINE CARPENTER SYNDROME;   Proud-Levine-Carpenter syndrome;   agenesis of corpus callosum with abnormal genitalia;   microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
 primary_id: MESH:C563110
 alt_id: OMIM:300004;   RDO:0012510
For additional species annotation, visit the Alliance of Genome Resources.

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Proud Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Proud Levine Carpenter syndrome OMIM
PMID:1605226, PMID:14722918, PMID:18414213, PMID:22252899, PMID:25741868 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Proud Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  intellectual disability 2107
                    Proud Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.