Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

osteoglophonic dwarfism
Synonyms

OSTEOGLOPHONIC dysplasia

Osteoglosphonic dysplasia

Fairbank-Keats syndrome

OGD

osteoglophonic dwarfism

Definitions

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

ID

http://purl.obolibrary.org/obo/MONDO_0008150

curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0008150

database_cross_reference

MEDGEN:96592

OMIM:166250

MESH:C536050

Orphanet:2645

UMLS:C0432283

DOID:0111532

SCTID:254144002

GARD:4142

definition

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0432283

http://purl.obolibrary.org/obo/Orphanet_2645

http://identifiers.org/medgen/96592

https://omim.org/entry/166250

http://identifiers.org/mesh/C536050

http://purl.obolibrary.org/obo/DOID_0111532

http://identifiers.org/snomedct/254144002

has_exact_synonym

osteoglophonic dwarfism

has_related_synonym

OSTEOGLOPHONIC dysplasia

Osteoglosphonic dysplasia

Fairbank-Keats syndrome

OGD

IAO_0000233

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

id

MONDO:0008150

in_subset

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

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

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_malformation_syndrome

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

label

osteoglophonic dwarfism

notation

MONDO:0008150

preferred label

osteoglophonic dwarfism

prefLabel

osteoglophonic dwarfism

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://www.ebi.ac.uk/efo/EFO_0009676

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0019708

Delete Subject Author Type Created
No notes to display