distal arthrogryposis type 7 - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	distal arthrogryposis type 7	go back to main search page
Accession:	DOID:0111603	browse the term
Definition:	A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in MYH8 on chromosome 17p13.1. (DO)
Synonyms:	exact_synonym:	DA7; Dutch-Kentucky syndrome; Hecht Syndrome; Hecht-Beals syndrome; MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS; trismus-pseudocamptodactyly; trismus-pseudocamptodactyly syndrome
	primary_id:	MESH:C535857
	alt_id:	OMIM:158300
	xref:	GARD:2621; ORDO:3377
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (2)

distal arthrogryposis type 7

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Fbn2

fibrillin 2

ISO

ClinVar Annotator: match by term: Beals-Hecht syndrome
ClinVar Annotator: match by term: Hecht syndrome

ClinVar

PMID:3495735 PMID:4750422 PMID:8653794 PMID:11754102 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:28492532 PMID:29926239

NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503

Myh8

myosin heavy chain 8

ISO

ClinVar Annotator: match by term: Hecht syndrome
ClinVar Annotator: match by OMIM:158300
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)

OMIM
ClinVar

PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:18414213 PMID:20949528 PMID:25305228 PMID:25741868 PMID:28492532, PMID:17041932

RGD:12914760

NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524

Term paths to the root

Path 1
Term	Annotations
disease	16123
syndrome	7053
distal arthrogryposis type 7	2
Path 2
Term	Annotations
disease	16123
disease of anatomical entity	15370
nervous system disease	10975
peripheral nervous system disease	2430
neuropathy	2245
neuromuscular disease	1766
muscular disease	1168
Arthrogryposis	94
distal arthrogryposis	20
distal arthrogryposis type 7	2

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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