Marshall syndrome

Preferred Label : Marshall syndrome;

Symbol : MRSHS;

CISMeF acronym : MRSHS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen XI, alpha-1 polypeptide gene (COL11A1, 120280.0002);

Prefixed ID : #154780;

Détails

Origin ID

154780;

UMLS CUI

C0265235;

Automatic exact mappings (from CISMeF team)
- Marshall syndrome [ICD-11 More detail]
- Marshall syndrome [DO Concept]
- Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome [NCIt concept]
Currated CISMeF NLP mapping
- Marshall Syndrome [NCIt concept]
- Marshall syndrome [PASCAL descriptor]
- Marshall syndrome [Disease (Nov.)]
- Marshall syndrome [MeSH concept]
- Marshall syndrome [ORDO Disease]
- Marshall syndrome (disorder) [SNOMED CT concept]
- marshall syndrome [MeSH Supplementary Concept]
- marshall syndrome [SNOMED Notion]
DO Cross reference
- Marshall syndrome [DO Concept]
Genes related to phenotype
- Collagen, type XI, alpha-1 [OMIM gene]
HPO term(s)
- Absent frontal sinuses [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Calcification of falx cerebri [HPO term]
- Cleft palate [HPO term]
- Coxa valga [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental cataract [HPO term]
- Epicanthus [HPO term]
- Esotropia [HPO term]
- Flattened nasal bridge [HPO term]
- Full lips [HPO term]
- Glaucoma [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic ilia [HPO term]
- Irregular distal femoral epiphysis [HPO term]
- Irregular femoral epiphysis [HPO term]
- Irregular proximal tibial epiphyses [HPO term]
- Lens dislocation [HPO term]
- Lens luxation [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrodontia of permanent maxillary central incisor [HPO term]
- Malar flattening [HPO term]
- Meningeal calcification [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Mild platyspondyly [HPO term]
- Myopia [HPO term]
- Pierre-Robin sequence [HPO term]
- Platyspondyly [HPO term]
- Radial bowing [HPO term]
- Retinal detachment [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Small distal femoral epiphysis [HPO term]
- Small proximal tibial epiphyses [HPO term]
- Thick lower lip vermilion [HPO term]
- Thick upper lip vermilion [HPO term]
- Thickened calvaria [HPO term]
- Ulnar bowing [HPO term]
- Vitreoretinopathy [HPO term]
- Wide tufts of distal phalanges [HPO term]
ORDO concept(s)
- Marshall syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marshall Syndrome [NCIt concept]
- Marshall syndrome [ORDO Disease]
- Marshall syndrome [MeSH concept]
- Marshall syndrome [PASCAL descriptor]
- Marshall syndrome [DO Concept]
- Marshall syndrome (disorder) [SNOMED CT concept]
- marshall syndrome [MeSH Supplementary Concept]
- marshall syndrome [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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