ORPHA:93276

Polyostotic fibrous dysplasia

This disease is described under Fibrous dysplasia of bone

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Polyostotic fibrous dysplasia
fr	Dysplasie fibreuse polyostotique
de	Knochendysplasie, fibröse polyostotische
es	Displasia fibrosa poliostótica
it	Displasia fibrosa poliostotica
nl	Polyostotische fibreuze dysplasie
pt	Displasia fibrosa poliostótica
pl	Dysplazja włóknista wieloogniskowa
cs	Polyostotická forma fibrózní dysplázie kostí
uk	Поліостозна фіброзна дисплазія
zh	多骨纤维异常增殖症
tr	Poliostotik fibröz displazi

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q78.1	NTBT	attributed	validated
ICD-11	FB80.0	NTBT	index	validated
MONDO	0008274	E		validated
MeSH	D005359	E		validated
UMLS	C0016065	E		validated
GARD	4213	E		validated
MedDRA	10036120	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:249Fibrous dysplasia of bone
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GNAS	Disease-causing somatic mutation(s) in	Assessed	HGNC:4392	ENSG00000087460	139320	20q13.32	GNAS complex locus	10535539[PMID]_10646121[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.