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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:scalp-ear-nipple syndrome
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Accession:DOID:0111550 term browser browse the term
Definition:An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2. (DO)
Synonyms:exact_synonym: Finlay-Marks syndrome;   SEN syndrome;   SENS;   hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples
 primary_id: MESH:C536623
 alt_id: OMIM:181270
 xref: GARD:159;   ORDO:2036
For additional species annotation, visit the Alliance of Genome Resources.


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scalp-ear-nipple syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd1 potassium channel tetramerization domain containing 1 ISO ClinVar Annotator: match by OMIM:181270
ClinVar Annotator: match by term: Scalp-ear-nipple syndrome
OMIM
ClinVar
PMID:1799422 PMID:8042668 PMID:9383029 PMID:10517259 PMID:16411189 PMID:23541344 PMID:25741868 NCBI chr18:6,374,778...6,474,990
Ensembl chr18:6,374,778...6,474,990
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    physical disorder 2958
      hypospadias 21
        scalp-ear-nipple syndrome 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          skin disease 2745
            Skin Abnormalities 632
              ectodermal dysplasia 255
                scalp-ear-nipple syndrome 1
paths to the root