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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:ZAKI SYNDROME
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Accession:DOID:9001208 term browser browse the term
Definition:This disease is characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate.
Synonyms:exact_synonym: MICROCEPHALY, PROGRESSIVE, WITH DEVELOPMENTAL DELAY, CUPPED EARS, AND DYSMORPHIC FEATURES;   WLS SYNDROME;   ZKS
 primary_id: OMIM:619648
For additional species annotation, visit the Alliance of Genome Resources.



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ZAKI SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wls Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: ZAKI SYNDROME ClinVar
OMIM
PMID:25741868 PMID:34587386 NCBI chr 2:248,931,885...249,047,248
Ensembl chr 2:248,931,903...249,048,298
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    physical disorder 4115
      congenital nervous system abnormality 1365
        microcephaly 1105
          ZAKI SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal dominant disease 5080
                complex cortical dysplasia with other brain malformations 1424
                  Malformations of Cortical Development, Group I 1270
                    microcephaly 1105
                      ZAKI SYNDROME 1
paths to the root