Fetal Akinesia Deformation Sequence

Preferred Label : Fetal Akinesia Deformation Sequence;

NCIt synonyms : Pena-Shokeir syndrome, Type 1; FADS;

NCIt definition : A condition characterized by fetal akinesia and intrauterine growth restriction, that may be associated with mutation(s) in the RAPSN or DOK7 genes, encoding 43 kDa receptor-associated protein of the synapse and protein Dok-7, respectively.;

Details

Origin ID

C129071;

UMLS CUI

C1276035;

Automatic exact mappings (from CISMeF team)
- Fetal akinesia deformation sequence [OMIM phenotypic series]
- Flavin adenine dinucleotide synthetase 1 [OMIM gene]
- fetal akinesia deformation sequence syndrome [DO Concept]
Currated CISMeF NLP mapping
- Fetal akinesia deformation sequence [ORDO Disease]
- Fetal akinesia deformation sequence 1 [OMIM Phenotype]
- Fetal akinesia sequence [HPO term]
- Pena Shokeir syndrome, type 1 [MeSH concept]
- Pena-Shokeir syndrome type I (disorder) [SNOMED CT concept]
- fetal akinesia deformation sequence [Disease (Nov.)]
- fetal akinesia deformation sequence syndrome 1 [DO Concept]
- fetal akinesia sequence [ICD-11 More detail]
- pena shokeir syndrome, type 1 [MeSH Supplementary Concept]
- pena-shokeir phenotype [SNOMED Notion]
DO Cross reference
- fetal akinesia deformation sequence syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fetal akinesia deformation sequence [ORDO Disease]
- Fetal akinesia deformation sequence 1 [OMIM Phenotype]
- Fetal akinesia sequence [HPO term]
- Pena Shokeir syndrome, type 1 [MeSH concept]
- Pena-Shokeir syndrome type I (disorder) [SNOMED CT concept]
- fetal akinesia deformation sequence syndrome [DO Concept]
- pena shokeir syndrome, type 1 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DOK7 Gene [NCIt concept]
- MUSK Gene [NCIt concept]
- RAPSN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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