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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:Alazami Syndrome
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Accession:DOID:9004307 term browser browse the term
Definition:A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia.
Synonyms:exact_synonym: ALAZS;   facial dysmorphism, intellectual disability, and primordial dwarfism
 primary_id: OMIM:615071
For additional species annotation, visit the Alliance of Genome Resources.


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Alazami Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by term: Alazami syndrome
OMIM
ClinVar
PMID:22865833, PMID:25741868, PMID:30006060 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Alazami Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    muscular atrophy 84
                      Facial Dysmorphism with Multiple Malformations 3
                        Alazami Syndrome 1
paths to the root

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