raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:261766

Partial deletion of chromosome 1 syndrome

Synonyms: Partial monosomy of chromosome 1

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
enPartial deletion of chromosome 1 syndromePartial monosomy of chromosome 1
frSyndrome de délétion partielle du chromosome 1Monosomie partielle du chromosome 1
deChromosom 1-Deletion, partiellePartielle Monosomie des Chromosoms 1
esSíndrome de deleción parcial del cromosoma 1Monosomía parcial del cromosoma 1
itSindrome delezione parziale del cromosoma 1Monosomia parziale del cromosoma 1
nlPartiële deletie van chromosoom 1-syndroomPartiële monosomie van chromosoom 1
ptMonossomia parcial do cromossoma 1
plZespół częściowej delecji chromosomu 1Cześciowa monosomia chromosomu 1
csParciální delece chromozomu 1Parciální monozomie chromozomu 1
ukЧасткова делеція хромосоми 1Часткова моносомія хромосоми 1
zh1号染色体部分缺失1号染色体部分单体
tr1. kromozomun kısmi delesyonu1. kromozomun kısmi monozomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016866Evalidated
MONDO16866Evalidated
UMLSC5679647Evalidated

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 (2):

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