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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 chr12:7,726,798...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 chr10:88,680,248...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: Amelia, autosomal recessive ClinVar
OMIM
PMID:25741868 PMID:31761294 PMID:31965066 NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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 Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 More... NCBI chr15:2,593,473...2,634,019
Ensembl chr15:2,593,578...2,633,503
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
RGD
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 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
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 Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome
ClinVar
OMIM
PMID:25741868 PMID:25966638 PMID:28492532 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: 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 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 ClinVar Annotator: match by OMIM:135750 OMIM
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:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
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: Ohdo syndrome, X-linked
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
RGD
PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:18691967 More... RGD:12910951 NCBI chr  X:66,404,622...66,427,772
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: Roberts-SC phocomelia syndrome
ClinVar Annotator: match by OMIM:269000
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
ClinVar Annotator: match by OMIM:268300
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 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 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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 chr10:88,680,248...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 ClinVar
OMIM
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 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        Musculoskeletal Abnormalities 2240
          Congenital Limb Deformities 458
            Ectromelia 13
              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 0
              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 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        Congenital Abnormalities 5594
          Musculoskeletal Abnormalities 2240
            Congenital Limb Deformities 458
              Ectromelia 13
                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 0
                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