Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

tooth agenesis, selective, 1

Synonyms

second premolars and third molars, absence of

hypodontia/oligodontia 1

tooth agenesis, familial

STHAG1

tooth agenesis, selective, 1, with or without orofacial cleft

tooth agenesis caused by mutation in MSX1

tooth agenesis, selective, 1

MSX1-related tooth agenesis with or without orofacial cleft

MSX1 tooth agenesis

tooth agenesis, selective, type 1

Definitions

Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.

ID

http://purl.obolibrary.org/obo/MONDO_0007129

database_cross_reference

OMIM:106600

GARD:18244

definition

Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.

exactMatch

https://omim.org/entry/106600

has_exact_synonym

tooth agenesis, selective, 1, with or without orofacial cleft

tooth agenesis caused by mutation in MSX1

tooth agenesis, selective, 1

MSX1-related tooth agenesis with or without orofacial cleft

MSX1 tooth agenesis

tooth agenesis, selective, type 1

has_related_synonym

second premolars and third molars, absence of

hypodontia/oligodontia 1

tooth agenesis, familial

STHAG1

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/7034

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0007129

in_subset

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

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

label

tooth agenesis, selective, 1

notation

MONDO:0007129

preferred label

tooth agenesis, selective, 1

prefLabel

tooth agenesis, selective, 1

subClassOf

http://www.ebi.ac.uk/efo/EFO_0005410

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