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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:spondyloepimetaphyseal dysplasia
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Accession:DOID:0080027 term browser browse the term
Definition:An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (DO)
Synonyms:exact_synonym: SPONDYLO-EPI-(META)-PHYSEAL DYSPLASIA
For additional species annotation, visit the Alliance of Genome Resources.


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spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondylo-epi-(meta)-physeal dysplasia ClinVar PMID:24033266 NCBI chrNW_004955486:9,553,765...9,555,675 JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chrNW_004955462:13,578,638...13,644,834 JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chrNW_004955412:6,106,994...6,118,760 JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar PMID:23956136, PMID:31630789 NCBI chrNW_004955541:3,149,438...3,152,210 JBrowse link
Anauxetic Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:633,474...636,440 JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:619,084...625,570 JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306, PMID:9156319, PMID:10026268, PMID:11006544, PMID:11207361, PMID:11940090, PMID:12107819, PMID:12888988, PMID:14569119, PMID:16097009, PMID:16254002, PMID:16838329, PMID:17701897, PMID:25741868, PMID:28094436, PMID:28492532 NCBI chrNW_004955472:636,633...640,198 JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004958151:6...1,111 JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,444,598...1,446,488 JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,427,660...1,428,771 JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,470,407...1,474,800 JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:663,451...670,890 JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:96,958...117,230 JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:564,227...568,708 JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,168,568...1,177,849 JBrowse link
G Fam166b family with sequence similarity 166 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:695,955...698,086 JBrowse link
G Fam214b family with sequence similarity 214 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,066,661...1,077,960 JBrowse link
G Fam221b family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:489,530...497,224 JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,097,986...1,105,836 JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,487,173...1,490,548 JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:553,556...564,411 JBrowse link
G Glipr2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:191,886...201,551 JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:56,623...92,553 JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:500,845...503,067 JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,474,802...1,485,352 JBrowse link
G LOC102009376 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:452,846...454,056 JBrowse link
G LOC106147709 chromosome unknown open reading frame, human C9orf131 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004958072:16...1,146 JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:549,115...550,247 JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:506,351...523,647 JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,186,021...1,204,018 JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,084,932...1,094,243 JBrowse link
G Reck reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:222,261...276,869 JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:550,198...554,038 JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:698,021...742,966 JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:643,923...645,802 JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:503,286...506,261 JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,079,261...1,082,632 JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:670,847...676,060 JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:568,939...603,676 JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:467,027...489,287 JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:611,079...617,823 JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004955472:1,111,649...1,124,076 JBrowse link
anauxetic dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 ClinVar PMID:8034306, PMID:9156319, PMID:10026268, PMID:11006544, PMID:11207361, PMID:11940090, PMID:12107819, PMID:12888988, PMID:14569119, PMID:16097009, PMID:16254002, PMID:16838329, PMID:17701897, PMID:25741868, PMID:28094436, PMID:28492532 NCBI chrNW_004955472:636,633...640,198 JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955417:13,823,027...13,856,448 JBrowse link
Anauxetic Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO OMIM NCBI chrNW_004955417:13,823,027...13,856,448 JBrowse link
Anauxetic Dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nepro nucleolus and neural progenitor protein ISO OMIM NCBI chrNW_004955427:13,232,375...13,247,164 JBrowse link
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO OMIM NCBI chrNW_004955402:34,150,783...34,541,944 JBrowse link
Liberfarb Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pisd phosphatidylserine decarboxylase ISO OMIM NCBI chrNW_004955455:5,744,816...5,789,408 JBrowse link
metatropic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO OMIM NCBI chrNW_004955455:8,744,865...8,781,644 JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO OMIM NCBI chrNW_004955453:16,724,286...16,784,129 JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO OMIM NCBI chrNW_004955402:34,150,783...34,541,944 JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar NCBI chrNW_004955428:4,192,357...4,211,740 JBrowse link
Smith-McCort Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab33b RAB33B, member RAS oncogene family ISO OMIM NCBI chrNW_004955428:4,192,357...4,211,740 JBrowse link
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 beta-1,3-galactosyltransferase 6 ISO OMIM NCBI chrNW_004955486:9,553,765...9,555,675 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chrNW_004955486:9,555,773...9,565,310 JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chrNW_004955486:9,565,424...9,569,836 JBrowse link
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif22 kinesin family member 22 ISO OMIM NCBI chrNW_004955493:7,155,307...7,173,576 JBrowse link
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc6b exocyst complex component 6B ISO OMIM NCBI chrNW_004955424:12,777,638...13,308,358 JBrowse link
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufsp2 UFM1 specific peptidase 2 ISO OMIM NCBI chrNW_004955403:23,634,967...23,655,429 JBrowse link
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspry1 ring finger and SPRY domain containing 1 ISO OMIM NCBI chrNW_004955433:14,843,521...14,884,083 JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nans N-acetylneuraminate synthase ISO OMIM NCBI chrNW_004955419:27,424,648...27,449,058 JBrowse link
G Trim14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Genevieve type ClinVar PMID:15726110, PMID:27213289 NCBI chrNW_004955419:27,390,098...27,420,727 JBrowse link
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl13 ribosomal protein L13 ISO OMIM NCBI chrNW_004955541:3,149,438...3,152,210 JBrowse link
Spondyloepimetaphyseal Dysplasia, Krakow Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sik3 SIK family kinase 3 ISO OMIM NCBI chrNW_004955412:18,177,175...18,280,687 JBrowse link
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO OMIM NCBI chrNW_004955469:2,548,443...2,568,497 JBrowse link
spondyloepimetaphyseal dysplasia, Missouri type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO OMIM NCBI chrNW_004955412:6,106,994...6,118,760 JBrowse link
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO OMIM NCBI chrNW_004955425:5,186,232...5,259,080 JBrowse link
Spondyloepimetaphyseal Dysplasia, Shohat Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddrgk1 DDRGK domain containing 1 ISO OMIM NCBI chrNW_004955415:14,085,404...14,098,220 JBrowse link
spondyloepimetaphyseal dysplasia, Sponastrime type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tonsl tonsoku like, DNA repair protein ISO OMIM NCBI chrNW_004955454:3,054,727...3,067,785 JBrowse link
spondyloepimetaphyseal dysplasia, Strudwick type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO OMIM NCBI chrNW_004955500:6,860,771...6,885,466 JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:1677003, PMID:15666313, PMID:25741868, PMID:29100092, PMID:32200603 NCBI chrNW_004955457:629,599...694,948 JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:30311386 NCBI chrNW_004955425:5,186,232...5,259,080 JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar NCBI chrNW_004955455:8,744,865...8,781,644 JBrowse link
Spondyloepimetaphyseal Dysplasia, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bgn biglycan ISO OMIM NCBI chrNW_004955580:252,183...263,179 JBrowse link
spondyloepiphyseal dysplasia congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:28492532 NCBI chrNW_004955437:19,563,645...19,605,747 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO OMIM NCBI chrNW_004955500:6,860,771...6,885,466 JBrowse link
G Trappc2 trafficking protein particle complex 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar NCBI chrNW_004955519:4,470,906...4,485,969 JBrowse link
spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc2 trafficking protein particle complex 2 ISO OMIM NCBI chrNW_004955519:4,470,906...4,485,969 JBrowse link
spondyloepiphyseal dysplasia with congenital joint dislocations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst3 carbohydrate sulfotransferase 3 ISO OMIM NCBI chrNW_004955437:19,563,645...19,605,747 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia ClinVar PMID:7752132, PMID:8325895, PMID:9101290, PMID:11746045, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955500:6,860,771...6,885,466 JBrowse link
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO OMIM NCBI chrNW_004955473:4,891,955...4,925,705 JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration ClinVar PMID:10486082, PMID:16924009, PMID:23239615, PMID:25741868, PMID:27102849, PMID:28842795 NCBI chrNW_004955473:4,875,230...4,891,898 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11810
    Developmental Diseases 8411
      bone development disease 1253
        osteochondrodysplasia 404
          spondyloepimetaphyseal dysplasia 69
            Anauxetic Dysplasia + 40
            Dyggve-Melchior-Clausen disease + 2
            Liberfarb Syndrome 1
            SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
            Schimke immuno-osseous dysplasia 1
            Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
            Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
            Spondyloepimetaphyseal Dysplasia with Joint Laxity + 5
            Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
            Spondyloepimetaphyseal Dysplasia, Irapa Type 0
            Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 1
            Spondyloepimetaphyseal Dysplasia, Krakow Type 1
            Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 1
            Spondyloepimetaphyseal Dysplasia, Shohat Type 1
            Spondyloepimetaphyseal Dysplasia, X-Linked 1
            X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
            metatropic dysplasia 1
            spondyloepimetaphyseal dysplasia, Genevieve-type 2
            spondyloepimetaphyseal dysplasia, Missouri type 1
            spondyloepimetaphyseal dysplasia, Pakistani type 1
            spondyloepimetaphyseal dysplasia, Sponastrime type 1
            spondyloepimetaphyseal dysplasia, Strudwick type 4
            spondyloepiphyseal dysplasia congenita 3
            spondyloepiphyseal dysplasia tarda + 1
            spondyloepiphyseal dysplasia with congenital joint dislocations 2
Path 2
Term Annotations click to browse term
  disease 11810
    disease of anatomical entity 11364
      musculoskeletal system disease 4900
        connective tissue disease 3382
          bone disease 2918
            bone development disease 1253
              osteochondrodysplasia 404
                spondyloepimetaphyseal dysplasia 69
                  Anauxetic Dysplasia + 40
                  Dyggve-Melchior-Clausen disease + 2
                  Liberfarb Syndrome 1
                  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
                  Schimke immuno-osseous dysplasia 1
                  Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
                  Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
                  Spondyloepimetaphyseal Dysplasia with Joint Laxity + 5
                  Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
                  Spondyloepimetaphyseal Dysplasia, Irapa Type 0
                  Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 1
                  Spondyloepimetaphyseal Dysplasia, Krakow Type 1
                  Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 1
                  Spondyloepimetaphyseal Dysplasia, Shohat Type 1
                  Spondyloepimetaphyseal Dysplasia, X-Linked 1
                  X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
                  metatropic dysplasia 1
                  spondyloepimetaphyseal dysplasia, Genevieve-type 2
                  spondyloepimetaphyseal dysplasia, Missouri type 1
                  spondyloepimetaphyseal dysplasia, Pakistani type 1
                  spondyloepimetaphyseal dysplasia, Sponastrime type 1
                  spondyloepimetaphyseal dysplasia, Strudwick type 4
                  spondyloepiphyseal dysplasia congenita 3
                  spondyloepiphyseal dysplasia tarda + 1
                  spondyloepiphyseal dysplasia with congenital joint dislocations 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.