ZFIN Human Disease: craniolenticulosutural dysplasia

OBO ID: DOID:0070307

Term Name:	craniolenticulosutural dysplasia		Search Ontology:
Synonyms:	Boyadjiev-Jabs Syndrome cranio-lenticulo-sutural dysplasia, CLSD
Definition:	A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. (3)
References:	MESH:C564332 OMIM:607812 ORDO:50814 SNOMEDCT_US_2023_03_01:725100001 UMLS_CUI:C1843042
Ontology:	Human Disease ( DOID:0070307 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SEC23A	sec23a	Craniolenticulosutural dysplasia	607812

ZEBRAFISH MODELS

Fish	Conditions	Citations
sec23a^m299/m299 (AB)	standard conditions	Cox et al., 2017

PHENOTYPE No data available

CITATIONS (1)