MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Craniofacial Abnormalities (D019465)
Parent Node:
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Skin Abnormalities (D012868)
Parent Node:
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Syndactyly (D013576)
..Starting node
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Winter Shortland Temple syndrome (C536735)

       Child Nodes:



 Sister Nodes: 
..expandAcrocephalosyndactylia (D000168) Child11
..expandAphalangia syndactyly microcephaly (C537787)
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandAurocephalosyndactyly (C566235)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBonneau Syndrome (C564875)
..expandBrachydactyly-Syndactyly Syndrome (C565193)
..expandEctodermal dysplasia mental retardation syndactyly (C538018)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..expandFilippi syndrome (C538152)
..expandFraser Syndrome (D058497)
..expandFrints De Smet Fabry Fryns syndrome (C538062)
..expandGollop Coates syndrome (C537283)
..expandGreen Sandford Davison syndrome (C538221)
..expandKleiner Holmes syndrome (C536885)
..expandKozlowski-Krajewska syndrome (C537615)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLandy Donnai syndrome (C537266)
..expandMartinez Monasterio Pinheiro syndrome (C536027)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculodentoosseous dysplasia recessive (C537733)
..expandOrofacial Cleft 7 (C563464)
..expandOrstavik Lindemann Solberg syndrome (C537137)
..expandPavone Fiumara Rizzo syndrome (C536313)
..expandPfeiffer Rockelein syndrome (C537890)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPoland Syndrome (D011045)
..expandPolydactyly, Postaxial, Type A4 (C563909)
..expandPolysyndactyly, Crossed (C566773)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandRadio-ulnar synostosis type 1 (C536268)
..expandRadio-ulnar synostosis type 2 (C536269)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSclerosteosis (C537525)
..expandScott Bryant Graham syndrome (C537528)
..expandShort Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..expandSyndactyly Cenani Lenz type (C538150)
..expandSyndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)
..expandSyndactyly, type 2 (C538153)
..expandSyndactyly, type 3 (C538154)
..expandSyndactyly, Type I (C566096)
..expandSyndactyly, Type IV (C566092)
..expandSyndactyly, type v (C538155)
..expandSyndactyly-Polydactyly-Earlobe Syndrome (C566091)
..expandTimothy syndrome (C536962)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandTrueb Burg Bottani syndrome (C536565)
..expandWinter Shortland Temple syndrome (C536735)
..expandZerres Rietschel Majewski syndrome (C536724)
..expandZlotogora-Ogur syndrome (C536726)
..expandZygodactyly 1 (C565223)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12865
Name:Winter Shortland Temple syndrome
Definition:
Alternative IDs:OMIM:601707
ParentIDs:MESH:D012868|MESH:D013576|MESH:D019465
TreeNumbers:C05.116.099.370.894.819/C536735 |C05.660.207/C536735 |C05.660.585.800/C536735 |C05.660.906.819/C536735 |C16.131.621.207/C536735 |C16.131.621.585.800/C536735 |C16.131.621.906.819/C536735 |C16.131.831/C536735 |C17.800.804/C536735
Synonyms:Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development |CRJS |Curry Jones syndrome |Curry-Jones Syndrome
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Skin disease
Reference: MedGen: C536735
MeSH: C536735
OMIM: 601707;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000951Abnormality of the skin
2 HP:0001274Agenesis of corpus callosum
3 HP:0002025Anal stenosis
4 HP:0007099Arnold-Chiari type I malformationHP:0040283
5 HP:0000581Blepharophimosis
6 HP:0011304Broad thumbHP:0040283
7 HP:0012450Chronic constipationHP:0040283
8 HP:0000589Coloboma
9 HP:0001363Craniosynostosis
10 HP:0010554Cutaneous finger syndactyly
11 HP:0010621Cutaneous syndactyly of toesHP:0040283
12 HP:0009942Duplication of thumb phalanxHP:0040283
13 HP:0000324Facial asymmetry
14 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
15 HP:0001263Global developmental delay
NAMDC:  Mental retardation
16 HP:0007206HemimegalencephalyHP:0040283
17 HP:0001007HirsutismHP:0040283
18 HP:0002566Intestinal malrotationHP:0040283
19 HP:0000568Microphthalmia
20 HP:0002126PolymicrogyriaHP:0040283
21 HP:0001177Preaxial hand polydactyly
22 HP:0001442Somatic mosaicism
23 HP:0001159Syndactyly
24 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005631.5(SMO):c.1234C>T (p.Leu412Phe)6608SMOPathogenicrs879255280RCV000236033; NMONDO:MONDO:0011134,MedGen:C0795915,OMIM:601707, Orphanet:15537128846398128846398CT7:g.128846398C>TClinGen:CA10584652,UniProtKB:Q99835#VAR_077087,OMIM:601500.0003C0795915 601707 Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development;
NM_005631.5(SMO):c.2177G>A (p.Arg726Gln)6608SMOUncertain significancers142495470RCV000122077|RCV000987975; NMedGen:CN169374|MONDO:MONDO:0011134,MedGen:C0795915,OMIM:601707, Orphanet:15537128852105128852105GA7:g.128852105G>AClinGen:CA162172CN169374 not specified;
MSeqDR Portal