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
Term information
- Orphanet:1568 (OMIM:304340)
- GARD:8520 (MONDO:GARD)
- UMLS:C0796254 (MONDO:equivalentTo)
- OMIM:304340 (Orphanet:1568/ntbt)
- DOID:0060800 (MONDO:equivalentTo)
- Orphanet:85329 (MONDO:equivalentTo)
- MEDGEN:162924 (MONDO:equivalentTo)
- SCTID:719139003 (MONDO:equivalentTo)
- NCIT:C124839 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, ordo_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_psychiatric_disorder, nord_rare, matrix_included, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease
http://www.orpha.net/ORDO/Orphanet_1568
http://purl.obolibrary.org/obo/DOID_0060800
http://www.orpha.net/ORDO/Orphanet_85329
http://linkedlifedata.com/resource/umls/id/C0796254
http://purl.obolibrary.org/obo/NCIT_C124839
http://identifiers.org/snomedct/719139003
http://identifiers.org/medgen/162924
https://omim.org/entry/304340
intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures
mental retardation, X-linked, syndromic 5
intellectual disability, X-linked, syndromic 21
PETTIGREW syndrome
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
mental retardation, X-linked, syndromic, fried type
intellectual disability, X-linked, syndromic, fried type
mental retardation, X-linked 59
MRXS5
intellectual disability, X-linked, syndromic 5
intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures
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
PGS
mental retardation, X-linked, syndromic 21
https://github.com/monarch-initiative/mondo/issues/5588
https://github.com/monarch-initiative/mondo/issues/4521
Term relations
- [X] central nervous system malformation
- [X] congenital nervous system disorder
- X-linked syndromic intellectual disability
- [X] multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some [X] central nervous system malformation
- has material basis in germline mutation in some AP1S2