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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:hypotrichosis 7
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Accession:DOID:0110704 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal recessive mutation of LIPH on chromosome 3q27.2. (DO)
Synonyms:exact_synonym: HYPT7;   Hypotrichosis, Autosomal Recessive;   Hypotrichosis, Localized, Autosomal Recessive, 2;   LAH2;   alopecia universalis congenita, Mari type;   total hypotrichosis, Mari type
 primary_id: MESH:C536973
 alt_id: OMIM:604379
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypotrichosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Liph lipase H ISO ClinVar Annotator: match by term: Hypotrichosis 7 ClinVar
OMIM
PMID:17095700, PMID:17333281, PMID:18445047, PMID:18830268, PMID:19365138, PMID:19892526, PMID:20213768, PMID:21352330, PMID:21426374, PMID:22449147, PMID:23590372, PMID:24033266, PMID:24722066, PMID:25201209, PMID:25271093, PMID:25741868, PMID:25899282 NCBI chr11:82,680,167...82,732,145 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Pathological Conditions, Signs and Symptoms 8761
      Anatomical Pathological Conditions 1535
        alopecia 93
          hypotrichosis 7 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          skin disease 2765
            hair disease 266
              hypotrichosis 127
                alopecia 93
                  hypotrichosis 7 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.