ZFIN Human Disease: trichodontoosseous syndrome

OBO ID: DOID:0111565

Term Name:	trichodontoosseous syndrome		Search Ontology:
Synonyms:	TDO syndrome tricho-dento-osseous syndrome
Definition:	A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33. https://www.ncbi.nlm.nih.gov/pubmed/22671030
References:	GARD:7799 MESH:C536549 OMIM:190320 ORDO:3352 SNOMEDCT_US_2023_03_01:38993008 UMLS_CUI:C0265333
Ontology:	Human Disease ( DOID:0111565 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DLX3	dlx3b	Trichodontoosseous syndrome	190320

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)