ORPHA:90390

Anonychia-onychodystrophy syndrome

This disease is described under Isolated congenital anonychia

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Anonychia-onychodystrophy syndrome
fr	Syndrome d'anonychie-onychodystrophie
de	Anonychie-Onychodystrophie-Syndrom
es	Síndrome de anoniquia-onicondistrofia
it	Anonichia - onicodistrofia
nl	Anonychie - onychodystrofie-syndroom
pt	Síndrome de anoníquia-onicodistrofia
pl	Anonychia - onychodystrofia
cs	Syndrom anonychiie s onychodystrofií
uk	Синдром аноніхії-оніходистрофії
zh	甲缺如-甲营养不良综合征
tr	Anonikia-onikodistrofi sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	107000	BTNT		validated
OMIM	614149	BTNT		validated
ICD-10	Q84.3	NTBT	attributed	validated
MONDO	0019577	E		validated
MeSH	C536378	E		validated
UMLS	C1862840	E		validated
GARD	710	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:79143Isolated congenital anonychia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases

No children.

0 direct

Orphanet records no gene directly on this code.

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		14 cases	Worldwide	Case(s)	Validated	15200512[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

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