Disease Browser
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Parent Node: Intellectual Disability (D008607) | Parent Node: Jaw Abnormalities (D007569) | Parent Node: Strabismus (D013285) | ..Starting node ..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
| Child Nodes:
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Sister Nodes: | ..Carnevale syndrome (C535586)
| ..Esotropia (D004948) 1
| ..Exotropia (D005099)
| ..Hemifacial Hyperplasia With Strabismus (C564199)
| ..Krauss Herman Holmes syndrome (C537618)
| ..McPherson Robertson Cammarano syndrome (C538161)
| ..Mehes syndrome (C536146)
| ..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
| ..Ptosis, Strabismus, And Ectopic Pupils (C566736)
| ..Singh Chhaparwal Dhanda syndrome (C537341)
| ..Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease (C566677)
| ..Van Bogaert-Hozay syndrome (C536526)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 6971 |
Name: | MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D007569|MESH:D008607|MESH:D013285 |
TreeNumbers: | C05.500.460/613671 |C05.660.207.540.460/613671 |C07.320.440/613671 |C07.650.500.460/613671 |C10.292.562.887/613671 |C10.597.606.643/613671 |C11.590.810/613671 |C16.131.621.207.540.460/613671 |C16.131.850.500.460/613671 |C23.888.592.604.646/613671 |F03.550.600/6136 |
Synonyms: | MRAMS |
Slim Mappings: | Congenital abnormality|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: 613671
MeSH: 613671
OMIM: 613671;
Genes: SOBP; | 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_018013.3(SOBP):c.1981C>T (p.Arg661Ter) | 55084 | SOBP | Pathogenic | 267607078 | RCV000000003; | N | MedGen:C3150924,OMIM:613671 | 6 | 107956029 | 107956029 | NM_018013.3:c.1981C>T | NP_060483.3:p.Arg661Ter | NC_000006.11:g.107956029C>T | OMIM Allelic Variant:613667.0001 | C3150924 613671 Mental retardation, anterior maxillary protrusion, and strabismus | | |
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