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syndromic X-linked intellectual disability 5

Go to external page http://purl.obolibrary.org/obo/MONDO_0010574

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. [ Orphanet:1568 ]

Synonyms: X-linked mental retardation 59 intellectual disability, X-linked syndromic 5 syndromic X-linked intellectual disability type 5 syndromic X-linked intellectual disability fried type X-linked intellectual disability 59 Pettigrew syndrome, X-linked recessive X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome MRXS21 syndromic X-linked mental retardation 21 mental retardation, X-linked syndromic 5 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome MRX59 syndromic X-linked mental retardation fried type X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome Pettigrew syndrome syndromic X-linked intellectual disability 21

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0796254 (MONDO:equivalentTo)
  • GARD:8520 (MONDO:GARD)
  • Orphanet:1568 (OMIM:304340)
  • NCIT:C124839 (MONDO:equivalentTo)
  • DOID:0060800 (MONDO:equivalentTo)
  • SCTID:719139003 (MONDO:equivalentTo)
  • Orphanet:85329 (MONDO:equivalentTo)
  • OMIM:304340 (Orphanet:1568/ntbt)
  • MEDGEN:162924 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

A synonym that is historic and discouraged
syndromic X-linked mental retardation 21 [ DOID:0060800 ]

A synonym that is historic and discouraged
mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures [ https://omim.org/entry/304340 ]

A synonym that is historic and discouraged
mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures [ GARD:0008520 ]

A synonym that is historic and discouraged
mental retardation, X-linked, syndromic, fried type [ https://omim.org/entry/304340 ]

A synonym that is historic and discouraged
syndromic X-linked mental retardation fried type [ DOID:0060800 ]

abbreviation
MRX59 [ DOID:0060800 ]

UK spelling synonym
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome

abbreviation
MRXS21 [ DOID:0060800 ]

A synonym that is historic and discouraged
X-linked mental retardation 59 [ DOID:0060800 ]

A synonym that is historic and discouraged
mental retardation, X-linked, syndromic 5 [ https://omim.org/entry/304340 ]

abbreviation
MRXS5 [ GARD:0008520 ]

A synonym that is historic and discouraged
mental retardation, X-linked, syndromic 21 [ https://omim.org/entry/304340 ]

A synonym that is historic and discouraged
mental retardation X-linked syndromic 5 [ GARD:0008520 ]

A synonym that is historic and discouraged
mental retardation, X-linked syndromic 5 [ DOID:0060800 ]

comment

Editor note: check relationship to friend syndrome

exactMatch

http://www.orpha.net/ORDO/Orphanet_1568

http://www.orpha.net/ORDO/Orphanet_85329

http://purl.obolibrary.org/obo/DOID_0060800

http://purl.obolibrary.org/obo/NCIT_C124839

http://linkedlifedata.com/resource/umls/id/C0796254

http://identifiers.org/snomedct/719139003

http://identifiers.org/medgen/162924

https://omim.org/entry/304340

has related synonym

intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures

intellectual disability, X-linked, syndromic 21

PETTIGREW syndrome

mental retardation, X-linked, syndromic 5

fried syndrome

intellectual disability, X-linked 59

mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures

X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures

intellectual disability, X-linked, syndromic, fried type

mental retardation, X-linked, syndromic, fried type

mental retardation, X-linked 59

MRXS5

intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures

intellectual disability, X-linked, syndromic 5

mental retardation X-linked syndromic 5

intellectual disability X-linked syndromic 5

mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures

Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures

mental retardation, X-linked, syndromic 21

PGS

id

MONDO:0010574

term tracker item

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4521