ZFIN Human Disease: congenital disorder of glycosylation Ip

OBO ID: DOID:0080567

Term Name:	congenital disorder of glycosylation Ip		Search Ontology:
Synonyms:	congenital disorder of glycosylation 1p
Definition:	A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. https://www.ncbi.nlm.nih.gov/pubmed/22213132
References:	GARD:12396 OMIM:613661 ORDO:280071
Ontology:	Human Disease ( DOID:0080567 )

Relationships

is a type of:	autosomal recessive disease congenital disorder of glycosylation type I autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

OTHER congenital disorder of glycosylation Ip PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALG11	alg11	Congenital disorder of glycosylation, type Ip	613661

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None