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Standards Ontologies Notations
arthrogryposis multiplex congenita-5

Summary
Definition
An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34.
Super Class
arthrogryposis multiplex congenita
Disease Ontology
DOID:0080981
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1861 TOR1A torsin family 1 member A
Displaying 1 entry
Gene ID Gene Symbol Description Source
30931 Tor1a torsin family 1, member A (torsin A)
Displaying 1 entry
Gene ID Gene Symbol Description Source
266606 Tor1a torsin family 1, member A
Displaying 1 entry
Gene ID Gene Symbol Description Source
31399 Torsin torsin
Displaying 1 entry
Gene ID Gene Symbol Description Source
174433 ooc-5 Torsin-like protein
The Human Phenotype Ontology
Displaying entries 11 - 20 of 57 in total
HPO ID HPO Term
HP:0000463 Anteverted nares
HP:0000470 Short neck
HP:0000486 Strabismus
HP:0000508 Ptosis
HP:0000543 Optic disc pallor
HP:0000582 Upslanted palpebral fissure
HP:0000750 Delayed speech and language development
HP:0000878 11 pairs of ribs
HP:0001181 Adducted thumb
HP:0001188 Hand clenching
Displaying 1 entry
Gene ID Gene Symbol Description
1861 TOR1A torsin family 1 member A
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024