ZFIN Human Disease: distal arthrogryposis type 1A

OBO ID: DOID:0111597

Term Name:	distal arthrogryposis type 1A		Search Ontology:
Synonyms:	DA1A
Definition:	A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. https://www.ncbi.nlm.nih.gov/pubmed/12592607
References:	MESH:C535378 OMIM:108120
Ontology:	Human Disease ( DOID:0111597 )

Relationships

is a type of:	autosomal dominant disease distal arthrogryposis type 1 autosomal dominant disease distal arthrogryposis type 1 Show first 5 Terms

OTHER distal arthrogryposis type 1A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TPM2	tpm2	Arthrogryposis, distal, type 1A	108120
		Arthrogryposis, distal, type 2B4	108120

ZEBRAFISH MODELS

Fish	Conditions	Citations
mylpfa^oz30/oz30 (AB)	standard conditions	Chong et al., 2020
mylpfa^oz43/oz43 (AB)	standard conditions	Chong et al., 2020

PHENOTYPE No data available

CITATIONS (1)