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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:Polydactyly-Macrocephaly Syndrome
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Accession:DOID:9007131 term browser browse the term
Definition:A disease characterized by postaxial polydactyly and progressive macrocephaly. Caused by heterozygous mutation in the MAX gene on chromosome 14q23.
Synonyms:exact_synonym: PDMCS
 primary_id: MIM:620712


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Polydactyly-Macrocephaly Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAX MYC associated factor X ISO ClinVar Annotator: match by term: Polydactyly-macrocephaly syndrome ClinVar
OMIM		 PMID:27903915 PMID:28492532 PMID:38141607 NCBI chr 7:89,142,966...89,168,265
Ensembl chr 7:89,142,969...89,168,201 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15344
    physical disorder 5043
      polydactyly 373
        Postaxial Polydactyly 16
          Polydactyly-Macrocephaly Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15344
    Developmental Disease 13351
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12439
        genetic disease 12145
          monogenic disease 10308
            autosomal genetic disease 9546
              autosomal dominant disease 6340
                complex cortical dysplasia with other brain malformations 1609
                  Malformations of Cortical Development, Group I 1368
                    Macrocephaly 86
                      Polydactyly-Macrocephaly Syndrome 1
paths to the root