Lateral meningocele syndrome

Preferred Label : Lateral meningocele syndrome;

Symbol : LMNS;

CISMeF acronym : LMNS; LMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lehman syndrome; LMS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the Drosophila NOTCH gene 3 (NOTCH3, 600276.0013);

Prefixed ID : #130720;

Détails

Origin ID

130720;

UMLS CUI

C1851710;

Automatic exact mappings (from CISMeF team)
- Lateral medullary syndrome [ICD-11 More detail]
- Leiomyosarcoma [MedDRA Preferred Term]
- Leiomyosarcomas [MedDRA High Level Term]
- lateral meningocele syndrome [DO Concept]
- leiomyosarcoma [MeSH Descriptor]
- leiomyosarcoma [MeSH concept]
- leiomyosarcoma, nos [SNOMED Notion]
- limb-mammary syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Lateral meningocele syndrome [MeSH concept]
- lateral meningocele syndrome [MeSH Supplementary Concept]
DO Cross reference
- lateral meningocele syndrome [DO Concept]
False automatic mappings
- Lateral meningocele syndrome [ORDO Disease]
- Limb-mammary syndrome [ORDO Disease]
- Lumen [NCIt concept]
- Rare lymphatic malformation [ORDO Disease]
- TP63 wt Allele [NCIt concept]
Genes related to phenotype
- Notch receptor 3 [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Abnormality of the middle ear ossicles [HPO term]
- Abnormality of the skin [HPO term]
- Arachnoid cyst [HPO term]
- Autosomal dominant inheritance [HPO term]
- Biconcave vertebral bodies [HPO term]
- Bicuspid aortic valve [HPO term]
- Chiari type I malformation [HPO term]
- Coarse hair [HPO term]
- Conductive hearing impairment [HPO term]
- Cryptorchidism [HPO term]
- Dental crowding [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dural ectasia [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Joint hypermobility [HPO term]
- Kyphosis [HPO term]
- Long philtrum [HPO term]
- Long, smooth philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Malformed ossicles [HPO term]
- Meningocele [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Platybasia [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Scalloping of vertebral bodies [HPO term]
- Sclerosis of skull base [HPO term]
- Scoliosis [HPO term]
- Short nasal bridge [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Syringomyelia [HPO term]
- Umbilical hernia [HPO term]
- Vertebral fusion [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Lateral meningocele syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lateral meningocele syndrome [MeSH concept]
- Lateral meningocele syndrome [ORDO Disease]
- lateral meningocele syndrome [MeSH Supplementary Concept]
- lateral meningocele syndrome [DO Concept]

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

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