General Information
Term	fetal akinesia deformation sequence syndrome	ID (Ontology)	DOID:0111375 (Human Disease)
Definition	A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
Also Known As	"arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" ; "FADS" ; "fetal akinesia sequence" (for all, see Synonyms field below)
Comment
Links to External Ontologies
	DO.org
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Records annotated with this term OR any of its CHILD TERMS
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General Information

Term

fetal akinesia deformation sequence syndrome

ID (Ontology)

DOID:0111375 (Human Disease)

Definition

A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.

Also Known As

"arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" ; "FADS" ; "fetal akinesia sequence" (for all, see Synonyms field below)

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

No relevant statements available

disease
 |__syndrome___________
genetic disease        |
 |__monogenic disease__|
                       fetal akinesia deformation sequence syndrome  3 rec.
                        |__fetal akinesia deformation sequence syndrome 1 1 rec.
                        |__fetal akinesia deformation sequence syndrome 2 1 rec.
                        |__fetal akinesia deformation sequence syndrome 3
                        |__fetal akinesia deformation sequence syndrome 4 1 rec.
                        |__fetal akinesia deformation sequence syndrome X-linked

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Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	monogenic disease syndrome
Part of
Synonyms & Secondary IDs
Synonyms
	"arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT "FADS" EXACT OMO:0003012 "fetal akinesia sequence" EXACT "foetal akinesia deformation sequence syndrome" EXACT "foetal akinesia sequence" EXACT "Pena-Shokeir syndrome type 1" EXACT
Secondary IDs

External Crossreferences & Linkouts
	GARD:9634 MESH:C536647 MIM:PS208150 NCI:C129071 ORDO:994 SNOMEDCT_US_2023_03_01:401138005 UMLS_CUI:C1276035

Spanning Tree View Settings

Parents/Children
View Depth

Relationships

Is a

monogenic disease
syndrome

Part of

Synonyms & Secondary IDs

Synonyms

"arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT
"FADS" EXACT OMO:0003012
"fetal akinesia sequence" EXACT
"foetal akinesia deformation sequence syndrome" EXACT
"foetal akinesia sequence" EXACT
"Pena-Shokeir syndrome type 1" EXACT

Secondary IDs

External Crossreferences & Linkouts

GARD:9634
MESH:C536647
MIM:PS208150
NCI:C129071
ORDO:994
SNOMEDCT_US_2023_03_01:401138005
UMLS_CUI:C1276035