ORPHA:85186

Endosteal sclerosis-cerebellar hypoplasia syndrome

inactive · moved to ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

Type: Malformation syndrome
Group: Disorder
Status: inactive
Flag: Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Endosteal sclerosis-cerebellar hypoplasia syndrome
fr	Syndrome de sclérose endostéale-hypoplasie cérébelleuse
de	Endosteale Sklerose-zerebelläre Hypoplasie-Syndrom
es	Síndrome de hipoplasia cerebelosa-esclerosis endosteal
it	Sclerosi endostale - ipoplasia cerebellare
nl	Endosteale sclerose - cerebellaire hypoplasie-syndroom
pt	Síndrome de esclerose endosteal-hipoplasia cerebelosa
pl	Stwardnienie śródkostne- hipoplazja móżdżku
cs	Syndrom zahrnující endosteální sklerózu a hypoplázii mozečku
uk	Синдром ендостального склерозу-гіпоплазії мозочка
zh	内膜硬化-小脑发育不全综合征
tr	Endosteal skleroz-serebellar hipoplazi sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	614381	E	validated
MONDO	0013722	E	validated
MeSH	C535353	E	validated
UMLS	C3280644	E	validated
GARD	1195	E	validated

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

Classification

Not placed in any Orphanet classification in this release.

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/85186
This record as JSON: /data/d/85186.json