P2293
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutationTerminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders.Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.Terminal osseous dysplasia with pigmentary defects: Clinical description of a new familyAnetoderma in a patient with terminal osseous dysplasia with pigmentary defects
P921
description
Terminal osseous dysplasia-pig ...... scalp and digital fibromatosis
@en
name
Terminal osseous dysplasia with pigmentary defects
@en
syndrome de dysplasie osseuse terminale-défauts de pigmentation
@fr
type
label
Terminal osseous dysplasia with pigmentary defects
@en
syndrome de dysplasie osseuse terminale-défauts de pigmentation
@fr
altLabel
Odpd
@en
Odpf Syndrome
@en
Osseous Dysplasia, Digital, With Facial Pigmentary Defects and Multiple Frenula
@en
TERMINAL OSSEOUS DYSPLASIA
@en
TERMINAL OSSEOUS DYSPLASIA; TOD
@en
TOD
@en
Terminal Osseous Dysplasia and Pigmentary Defects
@en
prefLabel
Terminal osseous dysplasia with pigmentary defects
@en
syndrome de dysplasie osseuse terminale-défauts de pigmentation
@fr
P279
P31
P486
P6366
P1550
P2293
P279
P2888
P2892
P4229
P486
P492
P5270
MONDO:0010279
P6366
2777350444