ORPHA:306658

Familial normophosphatemic tumoral calcinosis

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial normophosphatemic tumoral calcinosis
fr	Calcinose tumorale normophosphatémique familiale
de	Normophosphatämische tumorale Kalzinose, familiäre Form
es	Calcinosis tumoral normofosfatémica familiar
it	Calcinosi tumorale normofosfatemica familiare
nl	Familiale normofosfatemische tumorale calcinose
pt	Calcinose tumoral normocalcémica
pl	Normokalcemiczna kalcynoza guzowata
cs	Familiární normofosfatemická tumorová kalcinóza
uk	Сімейний нормофосфатемічний пухлинний кальциноз
zh	血磷正常性家族性肿瘤样钙沉着症
tr	Ailesel normofosfatemik tümöral kalsinoz

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	610455	E		validated
ICD-10	M11.2	NTBT	attributed	validated
ICD-11	5C64.5	NTBT	attributed	validated
MONDO	0012502	E		validated
MeSH	C566473	E		validated
UMLS	C1864861	E		validated
GARD	10878	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:53715Familial tumoral calcinosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare endocrine diseases; rare bone diseases; rare neoplastic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SAMD9	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:1348	ENSG00000205413	610456	7q21.2	sterile alpha motif domain containing 9	16960814[PMID]_18094730[PMID]

0 records

No prevalence record in this release.

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