Preferred Name

Majeed syndrome

ID

http://www.orpha.net/ORDO/Orphanet_77297

alternative_term

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

definition

Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297

has_age_of_onset

Childhood

Infancy

has_inheritance

Autosomal recessive

hasDbXref

ICD-11:4A00.Y

MeSH:C537839

UMLS:C1864997

OMIM:609628

ICD-10:D84.8

MedDRA:10072223

label

Majeed syndrome

notation

ORPHA:77297

part_of

http://www.orpha.net/ORDO/Orphanet_622720

http://www.orpha.net/ORDO/Orphanet_290839

http://www.orpha.net/ORDO/Orphanet_324942

http://www.orpha.net/ORDO/Orphanet_619238

http://www.orpha.net/ORDO/Orphanet_290842

http://www.orpha.net/ORDO/Orphanet_498445

http://www.orpha.net/ORDO/Orphanet_324927

http://www.orpha.net/ORDO/Orphanet_293830

prefixIRI

ORDO:Orphanet_77297

prefLabel

Majeed syndrome

present_in

Worldwide AND has_cases/families_value : 4.0 (Family)

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_622720

http://www.orpha.net/ORDO/Orphanet_290839

http://www.orpha.net/ORDO/Orphanet_324942

http://www.orpha.net/ORDO/Orphanet_619238

http://www.orpha.net/ORDO/Orphanet_290842

http://www.orpha.net/ORDO/Orphanet_498445

http://www.orpha.net/ORDO/Orphanet_324927

http://www.orpha.net/ORDO/Orphanet_293830

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0012316 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0012316 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/609628 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119058 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_77297 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bioontology.org/ontology/MESH/C537839 Medical Subject Headings / 医学主题词表 LOOM