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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:GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
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Accession:DOID:9005701 term browser browse the term
Definition:This is a disease characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality.
Synonyms:exact_synonym: GKAF
 primary_id: OMIM:619321
For additional species annotation, visit the Alliance of Genome Resources.



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GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES ClinVar
OMIM
PMID:29851065 NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Pathological Conditions, Signs and Symptoms 10388
      Anatomical Pathological Conditions 2026
        alopecia 92
          GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          skin disease 3004
            hair disease 256
              hypotrichosis 129
                alopecia 92
                  GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES 1
paths to the root