raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:209044

Qualitative or quantitative defects of alphaB-cristallin

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
enQualitative or quantitative defects of alphaB-cristallin
frAnomalie qualitative ou quantitative de l'alphaB-cristalline
deAlpha B-Crystallin, qualitative oder quantitative Defekte
esAnomalías cualitativas o cuantitativas de alfaB-cristalina
itAlterazioni qualitative o quantitative di alfa B-cristallina
nlKwalitatieve of kwantitatieve defecten van alfa-B-crystalline
ptDeficiências qualitativas e quantitativas da alfaB-cristalina
plDefekty jakościowe lub ilościowe alfaB-krystaliny
csKvalitativní nebo kvantitativní defekty alfaB-crystallinu
ukЯкісні або кількісні дефекти альфаВ-кристаліну
zhαB-晶体蛋白定性或定量缺陷
trAlfaB-kristalinin kalitatif veya kantitatif defekti
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016188Evalidated
MONDO16188Evalidated
UMLSC5680838Evalidated

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 (1):

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