Disease Browser
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Parent Node: Brachydactyly (D059327) | Parent Node: Deafness (D003638) | Parent Node: Diseases (C) | Parent Node: Symphalangism, Distal (C566099) | Parent Node: Synostosis (D013580) | ..Starting node ..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
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Sister Nodes: | ..Antley-Bixler Syndrome Phenotype (D054882) 2
| ..Banki Syndrome (C566228)
| ..Coronal synostosis, syndactyly and jejunal atresia (C536445)
| ..Craniosynostoses (D003398) 64
| ..Der Kaloustian Mcintosh Silver syndrome (C538217)
| ..Humeroradial Multiple Synostosis Syndrome (C565509)
| ..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
| ..Jorgenson Lenz syndrome (C536292)
| ..Mesomelia-synostoses syndrome (C537348)
| ..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
| ..Multiple synostoses syndrome 2 (C537380)
| ..Multiple Synostoses Syndrome 3 (C567839)
| ..NOG-Related-Symphalangism Spectrum Disorder (C536943)
| ..Patella aplasia, coxa vara, tarsal synostosis (C536307)
| ..Prata Libéral Gonçalves syndrome (C538277)
| ..Radioulnar Synostosis (C562408)
| ..Radioulnar synostosis retinal pigment abnormalities (C536270)
| ..Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
| ..Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
| ..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
| ..Ramer Ladda syndrome (C535284)
| ..Spondylocarpotarsal synostosis (C535780)
| ..Symphalangism of Toes (C566101)
| ..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
| ..Syndactyly (D013576) 69
| ..Synostoses, tarsal, carpal, and digital (C538156)
| ..Synostosis of Talus and Calcaneus with Short Stature (C566089)
| ..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
| ..Tsukahara Syndrome (C566376)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 7478 |
Name: | MULTIPLE SYNOSTOSES SYNDROME 1 |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:C566099|MESH:D003638|MESH:D013580|MESH:D059327 |
TreeNumbers: | C05.116.099.370.894/186500 |C05.330.495/C566099/186500 |C05.390.408/C566099/186500 |C05.550.069/C566099/186500 |C05.660.585.262/186500 |C05.660.585.512.380/C566099/186500 |C05.660.585.988.425/C566099/186500 |C05.660.906/186500 |C09.218.458.341.186/186500 |C10.597 |
Synonyms: | DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN |FACIOAUDIOSYMPHALANGISM SYNDROME |SYMPHALANGISM-BRACHYDACTYLY SYNDROME |SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY |SYNS1 |WL SYNDROME |
Slim Mappings: | Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: 186500
MeSH: 186500
OMIM: 186500;
Genes: NOG; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_005450.4(NOG):c.615G>C (p.Trp205Cys) | 9241 | NOG | Pathogenic | 104894615 | RCV000007099; | N | MedGen:C0342282,OMIM:186500,SNOMED CT:129580008 | 17 | 54672199 | 54672199 | NM_005450.4:c.615G>C | NP_005441.1:p.Trp205Cys | NC_000017.10:g.54672199G>C | OMIM Allelic Variant:602991.0016 | C0342282 186500 Symphalangism-brachydactyly syndrome | | | NM_005450.4(NOG):c.649T>G (p.Trp217Gly) | 9241 | NOG | Pathogenic | 104894603 | RCV000007081; | N | MedGen:C0342282,OMIM:186500,SNOMED CT:129580008 | 17 | 54672233 | 54672233 | NM_005450.4:c.649T>G | NP_005441.1:p.Trp217Gly | NC_000017.10:g.54672233T>G | OMIM Allelic Variant:602991.0003 | C0342282 186500 Symphalangism-brachydactyly syndrome | | | NM_005450.4(NOG):c.696C>G (p.Cys232Trp) | 9241 | NOG | Pathogenic | 387906844 | RCV000023225; | N | MedGen:C0342282,OMIM:186500,SNOMED CT:129580008 | 17 | 54672280 | 54672280 | NM_005450.4:c.696C>G | NP_005441.1:p.Cys232Trp | NC_000017.10:g.54672280C>G | OMIM Allelic Variant:602991.0019 | C0342282 186500 Symphalangism-brachydactyly syndrome | | |
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