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(Q55784749)
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English
autism spectrum disorder-epilepsy-arthrogryposis syndrome
(1p21)
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS
SLC35A3-CDG
AMRS
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014248
rare disease
0 references
class of disease
0 references
subclass of
rare disease with autism
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014248
non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014248
congenital disorder of glycosylation with epilepsy as a major feature
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014248
congenital disorder of glycosylation with developmental anomaly
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014248
disorder of protein N-glycosylation
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014248
genetic association
SLC35A3
2 references
stated in
UniProt
UniProt protein ID
Q9Y2D2
retrieved
13 August 2019
stated in
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
exact match
http://www.orpha.net/ORDO/Orphanet_370943
0 references
Identifiers
KEGG ID
H01392
0 references
ICD-10-CM
Q87.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014248
Mondo ID
MONDO_0014248
0 references
OMIM ID
615553
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014248
Orphanet ID
370943
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014248
UMLS CUI
C3809910
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014248
C4518080
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
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