Laurin-sandrow syndrome

Preferred Label : Laurin-sandrow syndrome;

Symbol : LSS;

CISMeF acronym : LSS; MIP; TMIP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sandrow syndrome; Mirror hands and feet with nasal defects; Tetramelic mirror-image polydactyly; Mirror-image polydactyly; Fibula and ulna, duplication of, with absence of tibia and radius; TMIP; MIP;

Included titles and symbols : Laurin-sandrow syndrome, segmental;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ZRS regulatory element located in the homolog of the mouse limb region 1 gene (LMBR1, 605522.0018);

Prefixed ID : #135750;

Details

Origin ID

135750;

UMLS CUI

C1851100;

Automatic exact mappings (from CISMeF team)
- Laurin-Sandrow syndrome [ICD-11 More detail]
- Laurin-Sandrow syndrome, segmental [MeSH concept]
- Maximal Inspiratory Pressure [NCIt concept]
- Maximum Intensity Projection [NCIt concept]
- Mirror-image polydactyly [ORDO Disease]
- Public Service Announcements as Topic [MeSH Descriptor]
- TNPO1 wt Allele [NCIt concept]
- Transportin-1 [NCIt concept]
- inflammatory disease of female pelvic organs and tissues, nos [SNOMED Notion]
- lanosterol synthase [HGNC gene]
- lanosterol synthase [ORDO Gene]
- macrophage inflammatory proteins [MeSH Descriptor]
- macrophage inflammatory proteins [MeSH concept]
- mitochondrial intermediate peptidase [ORDO Gene]
- obsolete mitochondrial intermediate peptidase activity [GO term]
- pelvic inflammatory disease [MeSH Descriptor]
- pneumococcal infections [MeSH Descriptor]
Currated CISMeF NLP mapping
- Laurin-Sandrow syndrome [DO Concept]
- Laurin-Sandrow syndrome [MeSH concept]
- Laurin-Sandrow syndrome [MeSH Supplementary Concept]
- Laurin-Sandrow syndrome [ORDO Disease]
- Mirror hands and feet co-occurrent with nasal defect (disorder) [SNOMED CT concept]
DO Cross reference
- Laurin-Sandrow syndrome [DO Concept]
False automatic mappings
- Macrophage Inflammatory Protein [NCIt concept]
Genes related to phenotype
- Limb development membrane protein 1 [OMIM gene]
HPO term(s)
- Abnormality of the face [HPO term]
- Absent radius [HPO term]
- Absent tibia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad foot [HPO term]
- Fibular duplication [HPO term]
- Hand polydactyly [HPO term]
- Patellar aplasia [HPO term]
- Short foot [HPO term]
- Syndactyly [HPO term]
- Triphalangeal thumb [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Laurin-Sandrow syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Laurin-Sandrow syndrome [ORDO Disease]
- Laurin-Sandrow syndrome [MeSH Supplementary Concept]
- Laurin-Sandrow syndrome [MeSH concept]
- Laurin-Sandrow syndrome [DO Concept]
- Mirror hands and feet co-occurrent with nasal defect (disorder) [SNOMED CT concept]
- Mirror image polydactyly [HPO term]

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