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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


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 chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142 		JBrowse link
G Wnt3 Wnt family member 3 ISO tetra-amelia, OMIM:273395 RGD PMID:14872406 RGD:1599852 NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099 		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: Autosomal recessive amelia OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31761294 PMID:31965066 NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More... NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261 		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: Tibia, hypoplasia or aplasia of, with polydactyly ClinVar PMID:7726219 PMID:9950363 PMID:12837695 PMID:18156157 PMID:19847792 More... NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368 		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 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laurin-Sandrow syndrome		 OMIM
CTD
ClinVar		 PMID:16059937 PMID:24456159 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368 		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:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094 		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 term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked
DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)		 OMIM
ClinVar
RGD		 PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 More... RGD:12910951 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		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: ESCO2-related condition | ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:495649 PMID:1642282 PMID:3740099 PMID:15821733 PMID:16199547 More... RGD:11535978, RGD:11535977 NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306 		JBrowse link
Schinzel type phocomelia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schinzel phocomelia syndrome		 OMIM
CTD
ClinVar		 PMID:16826533 PMID:20949531 PMID:21271649 PMID:21344627 PMID:25741868 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
Split-Hand/Foot Malformation with Long Bone Deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome ClinVar PMID:25741868 NCBI chr10:61,513,609...61,514,730
Ensembl chr10:61,513,609...61,514,301 		JBrowse link
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome ClinVar PMID:25741868 NCBI chr10:61,521,107...61,541,494
Ensembl chr10:61,521,107...61,541,494 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetraamelia syndrome 1		 OMIM
CTD
ClinVar		 PMID:14872406 NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29769720 NCBI chr 7:74,096,378...74,239,398
Ensembl chr 7:74,103,090...74,238,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        Musculoskeletal Abnormalities 3302
          Congenital Limb Deformities 1022
            Ectromelia 15
              Absence of Tibia + 2
              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 + 4
              Richieri Costa Da Silva Syndrome 0
              Roberts syndrome 1
              Rudd Klimek Syndrome 0
              Schinzel type phocomelia 1
              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 2
              Tetraphocomelia-Thrombocytopenia Syndrome 0
              X-Linked Tetra-Amelia 0
              Yim Ebbin Syndrome 0
              hypoplastic or aplastic tibia with polydactyly 2
              tetraamelia syndrome + 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              Ectromelia 15
                Absence of Tibia + 2
                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 + 4
                Richieri Costa Da Silva Syndrome 0
                Roberts syndrome 1
                Rudd Klimek Syndrome 0
                Schinzel type phocomelia 1
                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 2
                Tetraphocomelia-Thrombocytopenia Syndrome 0
                X-Linked Tetra-Amelia 0
                Yim Ebbin Syndrome 0
                hypoplastic or aplastic tibia with polydactyly 2
                tetraamelia syndrome + 2
paths to the root