X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. [ Orphanet : 52503 ]
This is just here as a test because I lose it
Term information
database
cross reference
- SCTID:698290008 (MONDO:equivalentTo)
- NCIT:C125665 (MONDO:equivalentTo)
- DOID:0050800 (MONDO:equivalentTo)
- ICD9:758.81 (MONDO:relatedTo)
- MESH:C535598 (MONDO:equivalentTo)
- GARD:0001608 (MONDO:equivalentTo)
- Orphanet:52503 (OMIM:300352)
- OMIM:300352 (Orphanet:52503/e)
Subsets
ordo_disease
A synonym that is historic and discouraged
mental retardation, X-linked with seizures, short stature and midface hypoplasia
[
GARD
:
0001608
]
A synonym that is historic and discouraged
mental retardation, X-linked, with creatine transport deficiency
[
GARD
:
0001608
]
A synonym that is historic and discouraged
mental retardation, X-linked, with seizures, short stature, and midface hypoplasia
[
https://omim.org/entry/300352
]
definition
- X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.
exactMatch
- http://identifiers.org/snomedct/698290008
- https://omim.org/entry/300352
- http://www.orpha.net/ORDO/Orphanet_52503
- http://purl.obolibrary.org/obo/NCIT_C125665
- http://identifiers.org/mesh/C535598
- http://purl.obolibrary.org/obo/DOID_0050800
has exact synonym
- cerebral creatine deficiency syndrome 1, X-linked recessive
- creatine transporter deficiency
- SLC6A8 deficiency
- cerebral creatine deficiency syndrome 1
- cerebral creatine deficiency syndrome type 1
has related synonym
- creatine transporter defect
- mental retardation, X-linked with seizures, short stature and midface hypoplasia
- creatine deficiency syndrome, X-linked
- creatine deficiency, X-linked
- intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia
- mental retardation, X-linked, with creatine Transport deficiency
- intellectual disability, X-linked, with creatine Transport deficiency
- mental retardation, X-linked, with seizures, short stature, and midface hypoplasia
- X-linked creatine deficiency syndrome
- intellectual disability, X-linked, with creatine transport deficiency
- X-linked creatine transporter deficiency
- mental retardation, X-linked, with creatine transport deficiency
- X-linked creatine deficiency
- intellectual disability, X-linked with seizures, short stature and midface hypoplasia
- CCDS1
id
- MONDO:0010305
term tracker item
- https://github.com/monarch-initiative/mondo/issues/4521