Type	Entity	Source evidence	Confidence	Extractor
gene	DYM	“Dyggve-Melchior-Clausen (DMC) syndrome is an autosomal skeletal dysplasia, caused by mutations in the DYM gene.”	0.98	hgnc_dict_v1
phenotype	skeletal dysplasia	“Dyggve-Melchior-Clausen (DMC) syndrome is an autosomal skeletal dysplasia, caused by mutations in the DYM gene.”	0.98	phenotype_alias_lexicon_v2
phenotype	celiac disease	“Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.”	0.98	phenotype_alias_lexicon_v2
phenotype	developmental delay	“The features of this condition include developmental delay skeletal deformity, coarse facial features, and skeletal abnormalities.”	0.98	phenotype_alias_lexicon_v2

PMID 36833437 | PMCID PMC9956627 | DOI 10.3390/genes14020510 · Genes · 2023 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DYM	“A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family. (1) Background: Dyggve-Melchior-Clausen Syndrome is a skeletal dysplasia caused by a defect in the DYM gene (OMIM number 607461).”	0.98	hgnc_dict_v1
phenotype	skeletal dysplasia	“A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family. (1) Background: Dyggve-Melchior-Clausen Syndrome is a skeletal dysplasia caused by a defect in the DYM gene (OMIM number 607461).”	0.98	phenotype_alias_lexicon_v2
population	Population	“A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family. (1) Background: Dyggve-Melchior-Clausen Syndrome is a skeletal dysplasia caused by a defect in the DYM gene (OMIM number 607461). Pathogenic variants in the gene have been reported to cause Dyggve-Melchior-Clausen (DMC; OMIM 223800) dysplasia and Smith-McCort (SMC; OMIM 607326) dysplasia. (2) Methods: In the present study, large consanguineous families with five affected individuals with osteochondrodysplasia phenotypes were recruited.”	0.80	saudi_context_rules_v1
variant	c.1205T>A	“Sanger sequencing of the coding exons and exon intron borders of the DYM gene revealed a novel homozygous nonsense variant [DYM (NM_017653.6):c.1205T>A, p.(Leu402Ter)] in affected individuals.”	0.95	hgvs_regex_v1

PMID 32766185 | PMCID PMC7378890 | DOI 10.3389/fped.2020.00383 · Frontiers in pediatrics · 2020 · 6 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DYM	“A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.”	0.98	hgnc_dict_v1
phenotype	skeletal dysplasia	“Background: Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence.”	0.98	phenotype_alias_lexicon_v2
phenotype	intellectual disability	“Clinical features like spondyloepimetaphyseal dysplasia, indicative of characteristic skeletal abnormalities, and intellectual disability were observed.”	0.98	phenotype_alias_lexicon_v2
population	Population	“Methods and Results: In the current study, we examined a Pakistani consanguineous family with three affected members.”	0.80	saudi_context_rules_v1

PMID 32886330 | DOI 10.1007/s11033-020-05774-z · Molecular biology reports · 2020 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DYM	“A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.”	0.98	hgnc_dict_v1
phenotype	skeletal dysplasia	“Dyggve melchior clausen syndrome (DMC, MIM 223800) is a very rare autosomal recessive form of skeletal dysplasia associated with various degrees of mental retardation.”	0.98	phenotype_alias_lexicon_v2
phenotype	intellectual disability	“Dyggve melchior clausen syndrome (DMC, MIM 223800) is a very rare autosomal recessive form of skeletal dysplasia associated with various degrees of mental retardation.”	0.93	phenotype_alias_lexicon_v2
population	Population	“Here, we report characterization of large consanguineous family segregating DMC in autosomal recessive manner.”	0.80	saudi_context_rules_v1

PMID 20865280 | DOI 10.1007/s00431-010-1298-0 · European journal of pediatrics · 2011 · 6 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DYM	“The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chromosomal region.”	0.98	hgnc_dict_v1
phenotype	skeletal dysplasia	“In conclusion, distinction between this type of skeletal dysplasia and Morquio disease (MPS IV) is important for paediatricians and clinical geneticist in providing standard patient care and genetic counselling.”	0.98	phenotype_alias_lexicon_v2
phenotype	intellectual disability	“Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe.”	0.93	phenotype_alias_lexicon_v2
population	Saudi Arabia	“To the best of our knowledge, this is the first report of DMC from Saudi Arabia.”	0.95	saudi_context_rules_v1