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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 the KCTD1 gene 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: MIM:181270
 xref: GARD:159;   ORDO:2036



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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
ISS
ClinVar Annotator: match by term: Scalp-ear-nipple syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
MouseDO
PMID:1799422 PMID:8042668 PMID:9383029 PMID:10517259 PMID:16411189 More... NCBI chr18:6,122,390...6,316,434
Ensembl chr18:6,122,390...6,317,393
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    physical disorder 5183
      hypospadias 87
        scalp-ear-nipple syndrome 1
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        Neurologic Manifestations 10284
          sensory system disease 7183
            skin disease 4190
              Skin Abnormalities 1318
                ectodermal dysplasia 544
                  scalp-ear-nipple syndrome 1
paths to the root