sameAs
P2293
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosisSAMD9 mutation in normophosphatemic familial tumoral calcinosisNormophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.
P921
description
calcinosis that is characteriz ...... deposition of calcified tumors
@en
name
Normophosphatemic familial tumoral calcinosis
@en
calcinose tumorale familiale normophosphatemique
@fr
type
label
Normophosphatemic familial tumoral calcinosis
@en
calcinose tumorale familiale normophosphatemique
@fr
altLabel
Calcinosis, Tumoral, With Normophosphatemia
@en
Familial normophosphatemic tumoral calcinosis
@en
NFTC
@en
TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL
@en
TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC
@en
normophosphatemic familial tumoral calcinosis
@en
prefLabel
Normophosphatemic familial tumoral calcinosis
@en
calcinose tumorale familiale normophosphatemique
@fr
P2888
P486
P2293
P2892
P4229
P4317
P486
P492
P5270
MONDO:0012502
P699
DOID:0080170