Disease #01330 (FOP (fibrodysplasia ossificans progressiva (FOP)), OMIM:135100)

Official abbreviation FOP
Name fibrodysplasia ossificans progressiva (FOP)
OMIM ID 135100
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene ACVR1
Associated tissues -
Disease features -
Remarks -


Individuals

15 entries on 1 page. Showing entries 1 - 15.
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00204342 - - - - - - - - 0 - - FOP, Healthy/Control - ACVR1 ACVR1 1 16 -
00204343 - - - F - - - - 0 - - FOP Absence of great toes malformation; delayed onset of Heterotopic Ossificaion (HO); defined as FOP-variant; caucasian mother &Sikh father ACVR1 ACVR1 1 1 -
00204344 - - - F - - - - 0 - - FOP Normal or minimal changes in the great toes ACVR1 ACVR1 1 1 -
00204345 - - - F - - - - 0 - - FOP Monolateral malformation of the great toe; relatively late onset, de novo ACVR1 ACVR1 1 1 -
00204346 - - - - - - - - 0 - - FOP Classic FOP with bilateral malformation of the great toes and progressive HO in charateristic anatomic patterns. FOP-plus (classic FOP with atypical features as defined in PMID19085907 Kaplan FS, et al., 2009) ACVR1 ACVR1 1 133 -
00204347 - - - - - - - - 0 - - FOP Thumbs malformation ACVR1 ACVR1 1 2 -
00204348 - - - - - - - - 0 - - FOP - ACVR1 ACVR1 1 6 -
00204349 - - - - - - - - 0 - - FOP - ACVR1 ACVR1 1 3 -
00204352 - - - F - El Salvador - - 0 - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment ACVR1 ACVR1 1 1 -
00204353 - - - - - - - - 0 - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment ACVR1 ACVR1 1 2 -
00204354 - - - - - - - - 0 - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment ACVR1 ACVR1 1 1 -
00204355 - - - - - - - - 0 - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment ACVR1 ACVR1 1 3 -
00204356 - - - - - - - - 0 - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); Reduction malformation of the digits; mild cognitive impairment; diffuse scalp hair thinning ACVR1 ACVR1 1 2 -
00204358 - - - - - - - - 0 - - FOP - ACVR1 ACVR1 1 6 -
00204359 - - - F - - - - 0 - - FOP Normal great toes ACVR1 ACVR1 1 1 -
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