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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 1 - 10 of 57 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000252 Microcephaly
HP:0000269 Prominent occiput
HP:0000311 Round face
HP:0000343 Long philtrum
HP:0000347 Micrognathia
HP:0000395 Prominent antihelix
HP:0000400 Macrotia
HP:0000431 Wide nasal bridge
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