Experimental Factor Ontology

Last uploaded: October 15, 2024
Preferred Name

Majeed syndrome
Synonyms

congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis

chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis

CDA and CRMO

dyserythropoietic anemia, and neutrophilic dermatosis

congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis

MAJEED syndrome

chronic recurrent multifocal osteomyelitis, congenital

MJDS

chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Majeed syndrome

Definitions

Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.

ID

http://purl.obolibrary.org/obo/MONDO_0012316

database_cross_reference

ICD9:759.89

MedDRA:10072223

OMIM:609628

Orphanet:77297

MEDGEN:351273

UMLS:C1864997

NANDO:2200453

SCTID:703540008

icd11.foundation:1316564349

MESH:C537839

NCIT:C119058

GARD:10088

definition

Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.

has_exact_synonym

chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Majeed syndrome

has_related_synonym

congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis

chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis

CDA and CRMO

dyserythropoietic anemia, and neutrophilic dermatosis

congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis

MAJEED syndrome

chronic recurrent multifocal osteomyelitis, congenital

MJDS

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6746

https://github.com/monarch-initiative/mondo/issues/6751

https://github.com/monarch-initiative/mondo/issues/6747

https://github.com/monarch-initiative/mondo/issues/4948

id

MONDO:0012316

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

Majeed syndrome

notation

MONDO:0012316

preferred label

Majeed syndrome

prefLabel

Majeed syndrome

see also

https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome

skos_closeMatch

http://identifiers.org/meddra/10072223

skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_77297

http://purl.obolibrary.org/obo/NCIT_C119058

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1316564349

https://omim.org/entry/609628

http://linkedlifedata.com/resource/umls/id/C1864997

http://identifiers.org/medgen/351273

http://identifiers.org/snomedct/703540008

http://identifiers.org/mesh/C537839

subClassOf

http://purl.obolibrary.org/obo/MONDO_0009813

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