ORPHA:643538

Hao-Fountain syndrome due to USP7 mutation

Synonyms: HAFOUS due to USP7 mutation

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Hao-Fountain syndrome due to USP7 mutation	HAFOUS due to USP7 mutation
fr	Syndrome Hao-Fountain due à la mutation USP7
de	Hao-Fountain-Syndrom durch USP7-Mutation	HAFOUS durch USP7-Genmutation
es	Síndrome de Hao-Fountain por mutación en el gen USP7	HAFOUS por mutación en el gen USP7
it	Sindrome di Hao-Fountain da mutazione di USP7	HAFOUS da mutazione di USP7
nl	Syndroom van Hao-Fountain door USP7-mutatie	HAFOUS door USP7-mutatie
pt	Síndrome Hao-Fountain por mutação USP7	HAFOUS por mutação USP7
pl	Zespół Hao-Fountaina wskutek mutacji USP7	= en
cs	Haoův-Fountainův syndrom způsobený mutací USP7	= en
uk	Синдром Хао-Фонтейна, зумовлений мутацією USP7	HAFOUS через мутацію USP7

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	616863	NTBT	validated
MONDO	0958071	E	validated
UMLS	C5816734	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:643549Hao-Fountain syndrome
rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
USP7	Disease-causing germline mutation(s) in	Assessed	HGNC:12630	ENSG00000187555	602519	16p13.2	ubiquitin specific peptidase 7	30679821[PMID]

0 records

No prevalence record in this release.

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