ZFIN Human Disease: otopalatodigital syndrome spectrum disorder

OBO ID: DOID:0111782

Term Name:	otopalatodigital syndrome spectrum disorder		Search Ontology:
Synonyms:	fronto-otopalatodigital osteodysplasia OPD spectrum disorder OPSD
Definition:	A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. (3)
References:	ORDO:364541
Ontology:	Human Disease ( DOID:0111782 )

Relationships

is a type of:	bone development disease bone development disease Show first 5 Terms
has subtype:	Frank-Ter Haar syndrome frontometaphyseal dysplasia Melnick-Needles syndrome otopalatodigital syndrome type 1 otopalatodigital syndrome type 2 Frank-Ter Haar syndrome frontometaphyseal dysplasia Melnick-Needles syndrome otopalatodigital syndrome type 1 otopalatodigital syndrome type 2 Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None