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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 the LIPH gene on chromosome 3q27.2. (DO)
Synonyms:exact_synonym: HYPT7;   Hypotrichosis, Localized, Autosomal Recessive, 2;   LAH2;   LIPH-RELATED CONDITION;   alopecia universalis congenita, Mari type;   total hypotrichosis, Mari type;   total hyptrichosis, Mari type
 broad_synonym: Hypotrichosis, Autosomal Recessive;   woolly hair, autosomal recessive 2, with or without hypotrichosis
 xref: EFO:0009163;   MESH:C536973;   MIM:604379;   MONDO:0011452


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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 | ClinVar Annotator: match by term: LIPH-related condition 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Anatomical Pathological Conditions 2868
        alopecia 95
          hypotrichosis 7 1
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              hair disease 331
                hypotrichosis 150
                  alopecia 95
                    hypotrichosis 7 1
paths to the root