raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:309803

Rhizomelic chondrodysplasia punctata type 3

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 3
frChondrodysplasie ponctuée rhizomélique type 3
deChondrodysplasia punctata, rhizomele, Typ 3
esCondrodisplasia punctata rizomélica tipo 3
itCondrodisplasia puntata rizomelica, tipo 3
nlRhizomele chondrodysplasia punctata type 3
ptCondrodisplasia punctata rizomélica, tipo 3
plRizomeliczna chondrodysplazja punktowa typu 3
csRhizomelická chondrodysplasia punctata, typ 3
ukРізомелічна точкова хондродисплазія, тип 3
zh肢近端型点状软骨发育不良3型
trRizomelik kondrodisplazi punktata tip 3
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM600121Evalidated
ICD-10Q77.3NTBTattributedvalidated
ICD-11LD24.04NTBTindexvalidated
MONDO0010823Evalidated
MeSHC537608Evalidated
UMLSC1838612Evalidated

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
AGPSDisease-causing germline mutation(s) inAssessedHGNC:327ENSG000000185106030512q31.2alkylglycerone phosphate synthase21990100[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