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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:Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
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Accession:DOID:9001912 term browser browse the term
Synonyms:exact_synonym: MACS syndrome;   tall forehead, sparse hair, skin hyperextensibility, and scoliosis
 broad_synonym: RIN2-related condition
 xref: MESH:C567770;   MIM:613075;   MONDO:0013115


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Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: MACS SYNDROME | ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13617
      Anatomical Pathological Conditions 2866
        alopecia 94
          Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14665
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10946
            autosomal genetic disease 10433
              autosomal dominant disease 6775
                complex cortical dysplasia with other brain malformations 1646
                  Malformations of Cortical Development, Group I 1401
                    Macrocephaly 91
                      Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
paths to the root