Fetal akinesia deformation sequence 3

Preferred Label : Fetal akinesia deformation sequence 3;

Symbol : FADS3;

CISMeF acronym : FADS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the downstream of tyrosine kinase 7 gene (DOK7, 610285.0009);

Prefixed ID : #618389;

Details

Origin ID

618389;

UMLS CUI

C4760599;

Currated CISMeF NLP mapping
- fetal akinesia deformation sequence syndrome 3 [DO Concept]
DO Cross reference
- fetal akinesia deformation sequence syndrome 3 [DO Concept]
Genes related to phenotype
- Downstream of tyrosine kinase 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Downslanted palpebral fissures [HPO term]
- Fetal akinesia sequence [HPO term]
- Generalized edema [HPO term]
- Micrognathia [HPO term]
- Overlapping fingers [HPO term]
- Rocker bottom foot [HPO term]
- Short neck [HPO term]
- Talipes [HPO term]
ORDO concept(s)
- Fetal akinesia deformation sequence [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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