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Lenz-Majewski hyperostotic dwarfism

Go to external page http://purl.obolibrary.org/obo/MONDO_0007892

Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. [ Orphanet:2658 ]

Synonyms: Lenz-Majewski hyperostotic dwarfism

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0432269 (MONDO:equivalentTo)
  • OMIM:151050 (Orphanet:2658/e)
  • DOID:0111507 (MONDO:equivalentTo)
  • MESH:C537115 (Orphanet:2658/e)
  • MEDGEN:98483 (MONDO:equivalentTo)
  • icd11.foundation:1509425242 (MONDO:equivalentTo)
  • GARD:3223 (MONDO:GARD)
  • Orphanet:2658 (OMIM:151050)
Subsets

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

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

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

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

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

exactMatch

http://purl.obolibrary.org/obo/DOID_0111507

http://identifiers.org/medgen/98483

http://www.orpha.net/ORDO/Orphanet_2658

http://identifiers.org/mesh/C537115

https://omim.org/entry/151050

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1509425242

http://linkedlifedata.com/resource/umls/id/C0432269

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019703

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

multiple congenital anomalies, mental retardation and progressive skeletal sclerosis

Lenz-Majewski syndrome

Lenz-Majewski hyperostotic dysplasia

multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis

hyperostotic dwarfism Lenz-Majewski type

Lenz Majewski hyperostotic dwarfism

LMHD

id

MONDO:0007892

seeAlso

https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism