All individuals with variants in gene ABCC6

877 entries on 9 pages. Showing entries 1 - 100.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00050510 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? polydactyly (feet), cerebellar hypoplasia, feeding difficulties in infancy, abnormality of the nervous system, enlarged cisterna magna, global developmental delay, dandy-walker malformation, neonatal alloimmune thrombocytopenia, abnormality of the penis, abnormality of the tongue, upslanted palpebral fissure, epicanthus, abnormality of the lip, abnormality of the ear, abnormality of the umbilicus, abnormality of eye movement 1 1 Johan den Dunnen
00050546 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intrauterine growth retardation, short stature, clubbing, feeding difficulties in infancy, iga deficiency, microcephaly 1 1 Johan den Dunnen
00079069 - PubMed: Patel 2004 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs F no South Africa - - - - - GACI1 calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; hypertension, cardiomegaly, pulmonary congestion, LV hypertrophy, dilated ventricels,; no bisphosphonates; no hypophosphatemia 1 1 Yvonne Nitschke
00088257 - PubMed: Tan 2012 - M yes United Kingdom (Great Britain) Somalian - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088258 - - - - - - - - - - - PXE pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 1 1 Tim Hefferon
00088259 - - - M - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088260 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 2 1 Tim Hefferon
00088261 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); ;gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088262 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088263 - PubMed: Pfendner 2007 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088264 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088265 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms-V1 chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 1 1 Tim Hefferon
00088266 - PubMed: Miksch 2005 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088267 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring-G2-V1; no cardiac symptoms 1 1 Tim Hefferon
00088268 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); heart attack 1 1 Tim Hefferon
00088269 - PubMed: Pfendner 2007 - - - - - - - - - PXE pseudoxanthoma elasticum; no skin symptomseye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088270 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088271 - PubMed: Struk 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 1 1 Tim Hefferon
00088272 - PubMed: Struk 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088273 - PubMed: Struk 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088274 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; no cardiac symptoms 2 1 Tim Hefferon
00088275 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 1 1 Tim Hefferon
00088276 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088277 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 2 1 Tim Hefferon
00088278 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 1 1 Tim Hefferon
00088279 - PubMed: Ringpfeil 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088280 - - - - - - - - - - - PXE pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgeryheart attack 2 1 Tim Hefferon
00088281 - PubMed: Le Saux 2001 - - - - - - - - - PXE pseudoxanthoma elasticum; papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088282 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye peau d'orange changes; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 2 1 Tim Hefferon
00088283 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 2 1 Tim Hefferon
00088284 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms-V1; no cardiac symptoms 1 1 Tim Hefferon
00088285 - PubMed: Pfendner 2007 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 1 1 Tim Hefferon
00088286 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088287 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088288 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 1 1 Tim Hefferon
00088289 - PubMed: Chassaing 2004 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 1 1 Tim Hefferon
00088290 - - - - - - - - - - - PXE pseudoxanthoma elasticum; no skin symptomseye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 1 1 Tim Hefferon
00088291 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosed; vascular surgery; no cardiac symptoms 2 1 Tim Hefferon
00088292 - PubMed: Hendig 2005 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgeryheart attack 1 1 Tim Hefferon
00088293 - PubMed: Miksch 2005 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088294 - PubMed: Miksch 2005 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 2 1 Tim Hefferon
00088295 - PubMed: Chassaing 2004 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 1 1 Tim Hefferon
00088296 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088297 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088298 - PubMed: Pfendner 2007 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms 2 1 Tim Hefferon
00088299 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088300 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088301 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; no cardiac symptoms 1 1 Tim Hefferon
00088302 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 2 1 Tim Hefferon
00088303 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms 2 1 Tim Hefferon
00088304 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088305 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 2 1 Tim Hefferon
00088306 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088307 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088308 - PubMed: Miksch 2005 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088309 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 2 1 Tim Hefferon
00088310 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 1 1 Tim Hefferon
00088311 - PubMed: Struk 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088312 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088313 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088314 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088315 - PubMed: Struk 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; no cardiac symptoms 1 1 Tim Hefferon
00088316 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088317 - PubMed: Ringpfeil 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 2 1 Tim Hefferon
00088318 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088319 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088320 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye peau d'orange changes; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088321 - PubMed: Le Saux 2001 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 2 1 Tim Hefferon
00088322 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 2 1 Tim Hefferon
00088323 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088324 - PubMed: Le Saux 2001 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms-V1; no cardiac symptoms 2 1 Tim Hefferon
00088325 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptomsvascular surgery chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 2 1 Tim Hefferon
00088326 - - - - - - - - - - - PXE pseudoxanthoma elasticum; no skin symptomsangioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088327 - PubMed: Hendig 2005 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 1 1 Tim Hefferon
00088328 - PubMed: Struk 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 2 1 Tim Hefferon
00088329 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosed; vascular surgery; no cardiac symptoms 1 1 Tim Hefferon
00088330 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosed; vascular surgeryheart attack 1 1 Tim Hefferon
00088331 - - - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 1 1 Tim Hefferon
00088332 - PubMed: Struk 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088333 - PubMed: Miksch 2005 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088334 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088335 - PubMed: Le Saux 2001 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 2 1 Tim Hefferon
00088336 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms 2 1 Tim Hefferon
00088337 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088338 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); ;gastrointestinal bleeding must be diagnosed; vascular surgery chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 2 1 Tim Hefferon
00088339 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms 2 1 Tim Hefferon
00088340 - PubMed: Pfendner 2007 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088341 - PubMed: Le Saux 2001 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 1 1 Tim Hefferon
00088342 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 2 1 Tim Hefferon
00088343 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 2 1 Tim Hefferon
00088344 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088345 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms-V1; no cardiac symptoms 2 1 Tim Hefferon
00088346 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088347 - - - - - - - - - - - PXE pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms 1 1 Tim Hefferon
00088348 - PubMed: Ringpfeil 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgeryheart attack 1 1 Tim Hefferon
00088349 - PubMed: Germain 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms-V1; no cardiac symptoms 2 1 Tim Hefferon
00088350 - PubMed: Bergen 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptomsvascular surgery; no cardiac symptoms 2 1 Tim Hefferon
00088351 - - - - - - - - - - - PXE pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms 2 1 Tim Hefferon
00088352 - PubMed: Struk 2000 - - - - - - - - - PXE pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms 2 1 Tim Hefferon
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