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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, Localized, Autosomal Recessive, 2;   LAH2;   alopecia universalis congenita, Mari type;   total hypotrichosis, Mari type
 broad_synonym: Hypotrichosis, Autosomal Recessive;   woolly hair, autosomal recessive 2, with or without hypotrichosis
 primary_id: MESH:C536973
 alt_id: OMIM:604379
 xref: EFO:0009163
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:17095700 PMID:17333281 PMID:18445047 PMID:18830268 PMID:19365138 More... NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Pathological Conditions, Signs and Symptoms 11356
      Anatomical Pathological Conditions 2263
        alopecia 91
          hypotrichosis 7 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        sensory system disease 6435
          skin disease 3794
            hair disease 259
              hypotrichosis 129
                alopecia 91
                  hypotrichosis 7 1
paths to the root