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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
 primary_id: MESH:C567770;   RDO:0015739
 alt_id: OMIM:613075
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:613075
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis
OMIM
ClinVar
PMID:19631308, PMID:20424861, PMID:20954239, PMID:24449201, PMID:25741868, PMID:28492532 NCBI chr 3:139,871,330...140,087,679
Ensembl chr 3:139,894,331...140,087,678
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      skin disease 2758
        cutis laxa 41
          Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    Macrocephaly 84
                      Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 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.