ORPHA:309789

Rhizomelic chondrodysplasia punctata type 1

This disease is described under Rhizomelic chondrodysplasia punctata

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Rhizomelic chondrodysplasia punctata type 1
fr	Chondrodysplasie ponctuée rhizomélique type 1
de	Chondrodysplasia punctata, rhizomele, Typ 1
es	Condrodisplasia punctata rizomélica tipo 1
it	Condrodisplasia puntata rizomelica, tipo 1
nl	Rhizomele chondrodysplasia punctata type 1
pt	Condrodisplasia punctata rizomélica, tipo 1
pl	Rizomeliczna chondrodysplazja punktowa typu 1
cs	Rhizomelická chondrodysplasia punctata, typ 1
uk	Різомелічна точкова хондродисплазія, тип 1
zh	肢根斑点状软骨发育异常1型
tr	Rizomelik kondrodisplazi punktata tip 1

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	215100	E		validated
ICD-10	Q77.3	NTBT	attributed	validated
ICD-11	LD24.04	NTBT	index	validated
MONDO	0008972	E		validated
MeSH	C531651	E		validated
UMLS	C1859133	E		validated
GARD	6049	E		validated

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

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.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PEX7	Disease-causing germline mutation(s) in	Assessed	HGNC:8860	ENSG00000112357	601757	6q23.3	peroxisomal biogenesis factor 7	21990100[PMID]

0 records

No prevalence record in this release.

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