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ONTOLOGY REPORT - ANNOTATIONS


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;   Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples;   SEN syndrome;   SENS
 primary_id: MESH:C536623
 alt_id: DOID:9000250;   OMIM:181270
 xref: GARD:159;   ORDO:2036
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scalp-ear-nipple syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kctd1 potassium channel tetramerization domain containing 1 JBrowse link 18 6,374,778 6,474,990 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      ectodermal dysplasia 225
        scalp-ear-nipple syndrome 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        sensory system disease 4769
          skin disease 2495
            Skin Abnormalities 508
              ectodermal dysplasia 225
                scalp-ear-nipple syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.