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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: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
 alt_id: RDO:0000837
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Ectromelia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdx2 caudal type homeo box 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr12:9,464,026...9,470,565
Ensembl chr12:9,464,026...9,470,565
JBrowse link
G Wnt3 Wnt family member 3 ISO tetra-amelia, OMIM:273395 RGD PMID:14872406 RGD:1599852 NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793
JBrowse link
Al Awadi Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Ulna and fibula absence of with severe limb deficiency
ClinVar Annotator: match by OMIM:276820
OMIM
ClinVar
PMID:16826533, PMID:20949531, PMID:21271649, PMID:21344627 NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
JBrowse link
Amelia, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Amelia, autosomal recessive ClinVar
OMIM
PMID:25741868, PMID:31761294, PMID:31965066 NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25741868, PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar
OMIM
PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25424711, PMID:25741868, PMID:26334766, PMID:26938784, PMID:27696664, PMID:28758091, PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-kaesbach-nishimura syndrome ClinVar
OMIM
PMID:25741868, PMID:25966638 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
JBrowse link
hypoplastic or aplastic tibia with polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Absence of tibia with polydactyly
ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly
ClinVar
OMIM
PMID:7726219, PMID:9950363, PMID:12837695, PMID:18156157, PMID:19847792, PMID:24777739, PMID:24965254 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:point mutations:enhancer:404G>A, 404G>C (human) RGD PMID:19847792 RGD:12801438 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by OMIM:135750 OMIM
ClinVar
PMID:16059937, PMID:24456159 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
Ohdo syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
Ohdo Syndrome, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by OMIM:300895
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE
DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)
OMIM
ClinVar
PMID:8279489, PMID:16700052, PMID:23395478, PMID:25326637, PMID:25741868, PMID:23395478 RGD:12910951 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
Roberts syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome
ClinVar Annotator: match by OMIM:269000
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:268300
DNA:deletion:exon
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
OMIM
ClinVar
CTD
PMID:495649, PMID:1642282, PMID:3740099, PMID:15821733, PMID:16380922, PMID:18186147, PMID:18411254, PMID:18414213, PMID:19574259, PMID:20101700, PMID:20301332, PMID:24098154, PMID:24864645, PMID:25741868, PMID:28492532, PMID:31192177, PMID:18186147, PMID:15821733 RGD:11535978, RGD:11535977 NCBI chr15:42,500,929...42,519,019
Ensembl chr15:42,500,929...42,518,855
JBrowse link
Tetraamelia Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Tetraamelia, autosomal recessive OMIM
ClinVar
PMID:14872406 NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793
JBrowse link
Tetraamelia Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo2 R-spondin 2 ISO ClinVar Annotator: match by term: TETRAAMELIA SYNDROME 2 ClinVar
OMIM
PMID:29769720 NCBI chr 7:81,919,911...82,059,659
Ensembl chr 7:81,924,050...82,059,789
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        Musculoskeletal Abnormalities 1777
          Congenital Limb Deformities 510
            Ectromelia 12
              Absence of Tibia + 2
              Al Awadi Syndrome 1
              Amelia and Terminal Transverse Hemimelia 0
              Amelia, Autosomal Recessive 1
              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
              Split-Hand-Foot Malformation with Long Bone Deficiency 1 0
              Split-Hand/Foot Malformation with Long Bone Deficiency 2 0
              Split-Hand/Foot Malformation with Long Bone Deficiency 3 0
              Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
              Tetraamelia Multiple Malformations 0
              Tetraamelia Syndrome 1 1
              Tetraamelia Syndrome 2 1
              Tetraphocomelia-Thrombocytopenia Syndrome 0
              X-Linked Tetra-Amelia 0
              Yim Ebbin Syndrome 0
              hypoplastic or aplastic tibia with polydactyly 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Musculoskeletal Abnormalities 1777
            Congenital Limb Deformities 510
              Ectromelia 12
                Absence of Tibia + 2
                Al Awadi Syndrome 1
                Amelia and Terminal Transverse Hemimelia 0
                Amelia, Autosomal Recessive 1
                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
                Split-Hand-Foot Malformation with Long Bone Deficiency 1 0
                Split-Hand/Foot Malformation with Long Bone Deficiency 2 0
                Split-Hand/Foot Malformation with Long Bone Deficiency 3 0
                Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
                Tetraamelia Multiple Malformations 0
                Tetraamelia Syndrome 1 1
                Tetraamelia Syndrome 2 1
                Tetraphocomelia-Thrombocytopenia Syndrome 0
                X-Linked Tetra-Amelia 0
                Yim Ebbin Syndrome 0
                hypoplastic or aplastic tibia with polydactyly 2
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.