raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:156638

Rare genetic endocrine disease

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enRare genetic endocrine disease
frMaladie endocrinienne génétique rare
deEndokrine Krankheit, genetisch bedingte
esEnfermedades endocrinas genéticas raras
itMalattia endocrina genetica
nlZeldzame genetische endocriene ziekte
ptDoença endócrina genética
plRzadka genetyczna choroba endokrynologiczna
csVzácná genetická endokrinní choroba
ukРідкісне генетично обумовлене ендокринне захворювання
zh罕见遗传性内分泌疾病
trNadir genetik endokrin hastalığı
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO15513Evalidated
UMLSC5680638Evalidated

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

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (16):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

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

7

Sources for this card