Scapuloperoneal syndrome, neurogenic, kaeser type

Preferred Label : Scapuloperoneal syndrome, neurogenic, kaeser type;

Symbol : SCPNK;

CISMeF acronym : SCPNK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kaeser syndrome; Scapuloperoneal syndrome, neurogenic type, of kaeser; Stark-kaeser syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : #181400;

Details

Origin ID

181400;

UMLS CUI

C1867005;

Automatic exact mappings (from CISMeF team)
- muscular atrophy, spinal [MeSH Descriptor]
Currated CISMeF NLP mapping
- Neurogenic scapuloperoneal syndrome Kaeser type (disorder) [SNOMED CT concept]
- Neurogenic scapuloperoneal syndrome, Kaeser type [ORDO Disease]
- Scapuloperoneal spinal muscular atrophy [ORDO Disease]
- neurogenic scapuloperoneal syndrome Kaeser type [DO Concept]
- scapuloperoneal form of spinal muscular atrophy [MeSH concept]
- scapuloperoneal spinal muscular atrophy [Disease (Nov.)]
- scapuloperoneal spinal muscular atrophy [DO Concept]
- scapuloperoneal syndrome, neurogenic, kaeser type [MeSH concept]
- scapuloperoneal syndrome, neurogenic, kaeser type [MeSH Supplementary Concept]
DO Cross reference
- neurogenic scapuloperoneal syndrome Kaeser type [DO Concept]
Genes related to phenotype
- Desmin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Peroneal muscle atrophy [HPO term]
- Scapuloperoneal weakness [HPO term]
- Shoulder girdle muscle atrophy [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Neurogenic scapuloperoneal syndrome, Kaeser type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurogenic scapuloperoneal syndrome Kaeser type (disorder) [SNOMED CT concept]
- Neurogenic scapuloperoneal syndrome, Kaeser type [ORDO Disease]
- neurogenic scapuloperoneal syndrome Kaeser type [DO Concept]
- scapuloperoneal syndrome, neurogenic, kaeser type [MeSH Supplementary Concept]
- scapuloperoneal syndrome, neurogenic, kaeser type [MeSH concept]

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