ONTOLOGY REPORT - ANNOTATIONS


Term:Ectromelia
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Accession:DOID:9000545 term browser browse the term
Definition:Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.
Synonyms:exact_synonym: Amelia;   Fused Legs and Feet;   Hemimelia;   Mermaid Malformation;   Mermaid Syndrome;   Phocomelia;   Sirenomelia;   Sirenomelia Sequence;   Sirenomelia Sequences;   Sirenomelus
 primary_id: MESH:D004480;   RDO:0000837
For additional species annotation, visit the Alliance of Genome Resources.


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Ectromelia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt3 Wnt family member 3 JBrowse link 10 91,830,709 91,874,907 RGD:1599852
Absence of Tibia with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:8554872
RGD:7240710
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801438
Al Awadi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:7240710
RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
RGD:7240710
Laurin-Sandrow Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
Ohdo syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:11554173
Ohdo Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910951
Roberts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 JBrowse link 15 42,500,929 42,519,019 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11535978
RGD:11535977
Tetra-Amelia Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt3 Wnt family member 3 JBrowse link 10 91,830,709 91,874,907 RGD:7240710
RGD:8554872
Tibia, Hypoplasia of, with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      musculoskeletal system disease 3984
        Musculoskeletal Abnormalities 1191
          Congenital Limb Deformities 343
            Ectromelia 9
              Absence of Tibia + 2
              Al Awadi Syndrome 1
              Amelia and Terminal Transverse Hemimelia 0
              Amelia, Autosomal Recessive 0
              DK Phocomelia Syndrome 0
              Gillessen-Kaesbach-Nishimura Dysplasia 1
              Johnson Munson Syndrome 0
              Laurin-Sandrow Syndrome 1
              Ohdo syndrome + 3
              Richieri Costa Da Silva Syndrome 0
              Roberts syndrome 1
              Rudd Klimek Syndrome 0
              Selig Benacerraf Greene Syndrome 0
              Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
              Tetra-Amelia Autosomal Recessive 1
              Tetra-Amelia with Pulmonary Hypoplasia 0
              Tetraamelia Multiple Malformations 0
              Tetraphocomelia-Thrombocytopenia Syndrome 0
              Tibia, Hypoplasia of, with Polydactyly 1
              X-Linked Tetra-Amelia 0
              Yim Ebbin Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Musculoskeletal Abnormalities 1191
            Congenital Limb Deformities 343
              Ectromelia 9
                Absence of Tibia + 2
                Al Awadi Syndrome 1
                Amelia and Terminal Transverse Hemimelia 0
                Amelia, Autosomal Recessive 0
                DK Phocomelia Syndrome 0
                Gillessen-Kaesbach-Nishimura Dysplasia 1
                Johnson Munson Syndrome 0
                Laurin-Sandrow Syndrome 1
                Ohdo syndrome + 3
                Richieri Costa Da Silva Syndrome 0
                Roberts syndrome 1
                Rudd Klimek Syndrome 0
                Selig Benacerraf Greene Syndrome 0
                Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
                Tetra-Amelia Autosomal Recessive 1
                Tetra-Amelia with Pulmonary Hypoplasia 0
                Tetraamelia Multiple Malformations 0
                Tetraphocomelia-Thrombocytopenia Syndrome 0
                Tibia, Hypoplasia of, with Polydactyly 1
                X-Linked Tetra-Amelia 0
                Yim Ebbin Syndrome 0
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.