raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:309796

Rhizomelic chondrodysplasia punctata type 2

Type
Etiological subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Status
active

This disease is described under Rhizomelic chondrodysplasia punctata

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enRhizomelic chondrodysplasia punctata type 2
frChondrodysplasie ponctuée rhizomélique type 2
deChondrodysplasia punctata, rhizomele, Typ 2
esCondrodisplasia punctata rizomélica tipo 2
itCondrodisplasia puntata rizomelica, tipo 2
nlRhizomele chondrodysplasia punctata type 2
ptCondrodisplasia punctata rizomélica, tipo 2
plRizomeliczna chondrodysplazja punktowa typu 2
csRhizomelická chondrodysplasia punctata, typ 2
ukРізомелічна точкова хондродисплазія, тип 2
zh肢近端型点状软骨发育不良2型
trRizomelik kondrodisplazi punktata tip 2
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM222765Evalidated
ICD-10Q77.3NTBTattributedvalidated
ICD-11LD24.04NTBTindexvalidated
MONDO0009112Evalidated
MeSHC537607Evalidated
UMLSC1857242Evalidated

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):

  • ORPHA:177Rhizomelic chondrodysplasia punctata
    rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare bone diseases

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
GNPATDisease-causing germline mutation(s) inAssessedHGNC:4416ENSG000001169066027441q42.2glyceronephosphate O-acyltransferase21990100[PMID]
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