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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:loose anagen hair syndrome
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Accession:DOID:0111702 term browser browse the term
Definition:Benign childhood alopecia that improves spontaneously with aging. It is characterized by anagen hairs (misshapen hair bulbs and absent inner and outer root sheaths), thin, and sparse hairs that pulls out easily.
Synonyms:exact_synonym: loose anagen syndrome;   loose anagen syndromes
 primary_id: MESH:D058247
 alt_id: OMIM:600628
 xref: GARD:3287;   ORDO:168
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair ClinVar PMID:18414213, PMID:19684605, PMID:20882035, PMID:21396583, PMID:21548061, PMID:21784453, PMID:22253195, PMID:22419608, PMID:22528146, PMID:22606262, PMID:22995099, PMID:23756559, PMID:23786871, PMID:23885229, PMID:23918763, PMID:24033266, PMID:24458587, PMID:24458596, PMID:25123707, PMID:25137548, PMID:25326635, PMID:25326637, PMID:25331583, PMID:25563136, PMID:25741868, PMID:25846317, PMID:28492532, PMID:30311386, PMID:30348783 NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 OMIM
ClinVar
PMID:18414213, PMID:19684605, PMID:20882035, PMID:21396583, PMID:21548061, PMID:21784453, PMID:22253195, PMID:22419608, PMID:22528146, PMID:22606262, PMID:22995099, PMID:23756559, PMID:23786871, PMID:23885229, PMID:23918763, PMID:24033266, PMID:24458587, PMID:24458596, PMID:25123707, PMID:25137548, PMID:25326635, PMID:25326637, PMID:25331583, PMID:25563136, PMID:25741868, PMID:25846317, PMID:28074886, PMID:28492532, PMID:29907801, PMID:30311386, PMID:30348783 NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 ClinVar
OMIM
PMID:25741868, PMID:25741869, PMID:27264673, PMID:27681385, PMID:27868344, PMID:28211982, PMID:28492532 NCBI chr 6:23,548,507...23,581,136
Ensembl chr 6:23,549,317...23,581,052
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      loose anagen hair syndrome 2
        Noonan syndrome-like disorder with loose anagen hair + 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            hair disease 261
              hypotrichosis 126
                alopecia 92
                  loose anagen hair syndrome 2
                    Noonan syndrome-like disorder with loose anagen hair + 2
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.