Experimental Factor Ontology

Last uploaded: October 15, 2024
Preferred Name

mesomelic dysplasia
Synonyms

Mesomelic dysplasia

Mesomelic dwarf

Mesomelic Dysplasia

mesomelic dysplasias

mesomelic dysplasia

Definitions

A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).

ID

http://purl.obolibrary.org/obo/MONDO_0023599

database_cross_reference

NCIT:C121156

UMLS:C0410536

SCTID:205473008

MEDGEN:593147

definition

A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).

has_exact_synonym

mesomelic dysplasias

mesomelic dysplasia

has_related_synonym

Mesomelic dysplasia

Mesomelic dwarf

Mesomelic Dysplasia

id

MONDO:0023599

label

mesomelic dysplasia

notation

MONDO:0023599

preferred label

mesomelic dysplasia

prefLabel

mesomelic dysplasia

skos_exactMatch

http://purl.obolibrary.org/obo/NCIT_C121156

http://identifiers.org/medgen/593147

http://identifiers.org/snomedct/205473008

http://linkedlifedata.com/resource/umls/id/C0410536

subClassOf

http://www.ebi.ac.uk/efo/EFO_0005571

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