Pyrin domain, PYD family

SCOP classification

• Root: SCOP hierarchy in SUPERFAMILY [ 0] (11)
• Class: All alpha proteins [ 46456] (284)
• Fold: DEATH domain [ 47985]
• Superfamily: DEATH domain [ 47986] (4)
• Family: Pyrin domain, PYD [ 101298] (2)

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Family statistics

	Genomes (33)	Uniprot 2018_03 genome	PDB chains (SCOP 1.75)
Domains	64	175	2
Proteins	64	175	2

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Disease Ontology (DO)

Highlighted in gray are those with FDR_all>0.001

	DO term	FDR (all)	IC level	SDDO level	Annotation (direct or inherited)
Disease Ontology (DO)	primary bacterial infectious disease	0.0002015	1.212	--	DIRECT
Disease Ontology (DO)	intestinal disease	0.0007087	1.399	--	DIRECT
Disease Ontology (DO)	bacterial infectious disease	0.0239	1.191	--	INHERITED FROM: primary bacterial infectious disease
Disease Ontology (DO)	disease of anatomical entity	0.3158	0.2414	--	INHERITED FROM: Crohn's disease || intestinal disease || inflammatory bowel disease
Disease Ontology (DO)	disease by infectious agent	0.0004569	0.8142	Moderately Informative	DIRECT
Disease Ontology (DO)	gastrointestinal system disease	0.02074	0.8797	Moderately Informative	INHERITED FROM: inflammatory bowel disease || intestinal disease || Crohn's disease
Disease Ontology (DO)	inflammatory bowel disease	0.0004547	1.472	Informative	DIRECT
Disease Ontology (DO)	Crohn's disease	0.00009403	1.911	Highly Informative	DIRECT

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Human Phenotype (HP)

Highlighted in gray are those with FDR_all>0.001

	HP term	FDR (all)	IC level	SDHP level	Annotation (direct or inherited)
Phenotypic Abnormality (PA)	Amyloidosis	0.0000006737	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Aphthous ulcer	0.000001229	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Red eye	0.00002071	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal corneal epithelium morphology	0.00002306	1.763	--	DIRECT
Phenotypic Abnormality (PA)	Skin rash	0.00004576	2.161	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal leukocyte count	0.00004605	1.559	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of temperature regulation	0.00005606	1.348	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal conjunctiva morphology	0.00007236	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal spleen morphology	0.0001776	1.348	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the spleen	0.0002274	1.316	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal cellular immune system morphology	0.0003022	1.462	--	DIRECT
Phenotypic Abnormality (PA)	Lymphadenopathy	0.0003143	1.559	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal immune system morphology	0.0003411	1.421	--	DIRECT
Phenotypic Abnormality (PA)	Visceromegaly	0.0006777	1.462	--	DIRECT
Phenotypic Abnormality (PA)	Headache	0.0009491	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Abdominal pain	0.0009659	1.684	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of abdomen morphology	0.0009968	1.462	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the vasculature of the eye	0.001935	1.763	--	INHERITED FROM: Conjunctivitis || Red eye
Phenotypic Abnormality (PA)	Abnormal inflammatory response	0.002988	1.161	--	INHERITED FROM: Recurrent aphthous stomatitis || Keratitis || Conjunctivitis || Inflammatory abnormality of the eye || Skin rash || Stomatitis
Phenotypic Abnormality (PA)	Abnormal oral mucosa morphology	0.004295	1.258	--	INHERITED FROM: Recurrent aphthous stomatitis || Stomatitis || Aphthous ulcer
Phenotypic Abnormality (PA)	Abnormality of the vasculature	0.02356	0.7142	--	INHERITED FROM: Splenomegaly || Abnormal spleen morphology || Conjunctivitis || Lymphadenopathy || Abnormality of the spleen || Red eye || Abnormality of the lymphatic system
Phenotypic Abnormality (PA)	Constitutional symptom	0.03574	1.258	--	INHERITED FROM: Abdominal pain || Arthralgia || Myalgia
Phenotypic Abnormality (PA)	Abnormal oral morphology	0.0383	0.7381	--	INHERITED FROM: Stomatitis || Recurrent aphthous stomatitis || Aphthous ulcer
Phenotypic Abnormality (PA)	Abnormality of the mouth	0.04825	0.7065	--	INHERITED FROM: Aphthous ulcer || Recurrent aphthous stomatitis || Stomatitis
Phenotypic Abnormality (PA)	Abnormality of vision	0.04859	1.258	--	INHERITED FROM: Photophobia
Phenotypic Abnormality (PA)	Abnormality of the skin	0.04891	0.722	--	INHERITED FROM: Skin rash
Phenotypic Abnormality (PA)	Abnormality of the ocular adnexa	0.06642	1.082	--	INHERITED FROM: Conjunctivitis || Abnormal conjunctiva morphology
Phenotypic Abnormality (PA)	Abdominal symptom	0.1078	1.161	--	INHERITED FROM: Abdominal pain
Phenotypic Abnormality (PA)	Abnormality of the orbital region	0.1411	1.082	--	INHERITED FROM: Abnormal conjunctiva morphology || Conjunctivitis
Phenotypic Abnormality (PA)	Abnormality of the head	0.1754	0.4538	--	INHERITED FROM: Abnormal conjunctiva morphology || Conjunctivitis || Aphthous ulcer || Stomatitis || Recurrent aphthous stomatitis
Phenotypic Abnormality (PA)	Abnormality of head or neck	0.1802	0.4454	--	INHERITED FROM: Conjunctivitis || Abnormal conjunctiva morphology || Aphthous ulcer || Recurrent aphthous stomatitis || Stomatitis
Phenotypic Abnormality (PA)	Abnormal eye morphology	0.2421	0.7812	--	INHERITED FROM: Abnormal corneal epithelium morphology || Conjunctivitis || Keratitis || Red eye
Phenotypic Abnormality (PA)	Abnormality of the nervous system	0.3624	0.2371	--	INHERITED FROM: Headache || Photophobia
Phenotypic Abnormality (PA)	Increased inflammatory response	1	1.207	--	INHERITED FROM: Stomatitis || Conjunctivitis || Inflammatory abnormality of the eye || Recurrent aphthous stomatitis || Keratitis || Skin rash
Phenotypic Abnormality (PA)	Abnormality of the immune system	0.0308	0.7464	Least Informative	INHERITED FROM: Skin rash || Abnormality of the lymphatic system || Abnormal leukocyte morphology || Recurrent aphthous stomatitis || Abnormality of the spleen || Stomatitis || Lymphadenopathy || Conjunctivitis || Keratitis || Leukocytosis || Inflammatory abnormality of the eye || Abnormal spleen morphology || Abnormal immune system morphology || Splenomegaly || Abnormal leukocyte count || Abnormal cellular immune system morphology
Phenotypic Abnormality (PA)	Abnormality of metabolism/homeostasis	0.08298	0.5486	Least Informative	INHERITED FROM: Abnormality of temperature regulation || Amyloidosis || Fever
Phenotypic Abnormality (PA)	Abnormality of the integument	0.09177	0.6235	Least Informative	INHERITED FROM: Skin rash
Phenotypic Abnormality (PA)	Abnormality of the cardiovascular system	0.0952	0.5179	Least Informative	INHERITED FROM: Lymphadenopathy || Abnormality of the lymphatic system || Conjunctivitis || Abnormality of the spleen || Red eye || Splenomegaly || Abnormal spleen morphology
Phenotypic Abnormality (PA)	Abnormality of the digestive system	0.1199	0.5759	Least Informative	INHERITED FROM: Abnormality of the spleen || Abdominal pain || Abnormality of abdomen morphology || Splenomegaly || Visceromegaly || Abnormal spleen morphology
Phenotypic Abnormality (PA)	Abnormality of the face	0.1293	0.533	Least Informative	INHERITED FROM: Aphthous ulcer || Conjunctivitis || Abnormal conjunctiva morphology || Recurrent aphthous stomatitis || Stomatitis
Phenotypic Abnormality (PA)	Abnormality of nervous system physiology	0.2791	0.3869	Least Informative	INHERITED FROM: Headache || Photophobia
Phenotypic Abnormality (PA)	Abnormality of the eye	0.4302	0.5703	Least Informative	INHERITED FROM: Abnormal corneal epithelium morphology || Inflammatory abnormality of the eye || Photophobia || Conjunctivitis || Keratitis || Red eye
Phenotypic Abnormality (PA)	Abnormality of the lymphatic system	0.0005787	1.184	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the abdominal organs	0.006847	1.031	Moderately Informative	INHERITED FROM: Abnormality of the spleen || Splenomegaly || Abnormal spleen morphology
Phenotypic Abnormality (PA)	Abnormality of blood and blood-forming tissues	0.01096	0.9183	Moderately Informative	INHERITED FROM: Abnormal leukocyte count || Abnormal leukocyte morphology || Leukocytosis
Phenotypic Abnormality (PA)	Abnormality of immune system physiology	0.01266	0.8942	Moderately Informative	INHERITED FROM: Inflammatory abnormality of the eye || Stomatitis || Skin rash || Recurrent aphthous stomatitis || Conjunctivitis || Keratitis
Phenotypic Abnormality (PA)	Abnormal homeostasis	0.01448	0.7903	Moderately Informative	INHERITED FROM: Abnormality of temperature regulation || Fever
Phenotypic Abnormality (PA)	Abnormal anterior eye segment morphology	0.04787	1.12	Moderately Informative	INHERITED FROM: Abnormal corneal epithelium morphology || Keratitis
Phenotypic Abnormality (PA)	Abnormal ocular adnexa morphology	0.06339	1.082	Moderately Informative	INHERITED FROM: Conjunctivitis || Abnormal conjunctiva morphology
Phenotypic Abnormality (PA)	Behavioral abnormality	0.1255	1.082	Moderately Informative	INHERITED FROM: Photophobia
Phenotypic Abnormality (PA)	Abnormal eye physiology	0.2594	0.7903	Moderately Informative	INHERITED FROM: Keratitis || Conjunctivitis || Photophobia || Inflammatory abnormality of the eye
Phenotypic Abnormality (PA)	Abnormality of digestive system physiology	0.418	0.9572	Moderately Informative	INHERITED FROM: Abdominal pain
Phenotypic Abnormality (PA)	Abnormal oral cavity morphology	1	0.8289	Moderately Informative	INHERITED FROM: Aphthous ulcer || Recurrent aphthous stomatitis || Stomatitis
Phenotypic Abnormality (PA)	Fever	0.00002105	1.508	Informative	DIRECT
Phenotypic Abnormality (PA)	Splenomegaly	0.00006629	1.462	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal leukocyte morphology	0.0003022	1.508	Informative	DIRECT
Phenotypic Abnormality (PA)	Stomatitis	0.0004162	1.617	Informative	DIRECT
Phenotypic Abnormality (PA)	Inflammatory abnormality of the eye	0.0005052	1.617	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal cornea morphology	0.00866	1.383	Informative	INHERITED FROM: Keratitis || Abnormal corneal epithelium morphology
Phenotypic Abnormality (PA)	Pain	0.01171	1.383	Informative	INHERITED FROM: Arthralgia || Abdominal pain || Myalgia
Phenotypic Abnormality (PA)	Abnormality of skin physiology	0.01738	1.684	Informative	INHERITED FROM: Skin rash
Phenotypic Abnormality (PA)	Abnormality of the lymph nodes	0.06169	1.508	Informative	INHERITED FROM: Lymphadenopathy
Phenotypic Abnormality (PA)	Leukocytosis	0.0000003502	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Recurrent aphthous stomatitis	0.000001229	1.86	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Keratitis	0.000007347	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Conjunctivitis	0.00002071	1.86	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Myalgia	0.0001048	1.763	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Arthralgia	0.0001503	1.763	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Photophobia	0.0003384	1.985	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Inflammatory abnormality of the skin	0.08347	1.86	Highly Informative	INHERITED FROM: Skin rash

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Mouse Phenotype (MP)

Highlighted in gray are those with FDR_all>0.001

	MP term	FDR (all)	IC level	SDMP level	Annotation (direct or inherited)
Mammalian Phenotype (MP)	abnormal immune system morphology	0	0.7223	--	DIRECT
Mammalian Phenotype (MP)	abnormal hematopoietic system morphology/development	0	0.6686	--	DIRECT
Mammalian Phenotype (MP)	decreased circulating interleukin-18 level	0.00000000401	2.603	--	DIRECT
Mammalian Phenotype (MP)	decreased interleukin-1 beta secretion	0.0000003604	2.603	--	DIRECT
Mammalian Phenotype (MP)	abnormal interleukin-18 secretion	0.0000004616	2.603	--	DIRECT
Mammalian Phenotype (MP)	abnormal susceptibility to induced colitis	0.0000004941	1.758	--	DIRECT
Mammalian Phenotype (MP)	abnormal circulating interleukin-1 beta level	0.00000236	2.603	--	DIRECT
Mammalian Phenotype (MP)	colitis	0.000002366	1.758	--	DIRECT
Mammalian Phenotype (MP)	large intestinal inflammation	0.000003016	1.649	--	DIRECT
Mammalian Phenotype (MP)	abnormal intercellular signaling peptide or protein level	0.00000425	1.324	--	DIRECT
Mammalian Phenotype (MP)	abnormal interleukin secretion	0.000006728	1.188	--	DIRECT
Mammalian Phenotype (MP)	abnormal intestine physiology	0.0000347	1.603	--	DIRECT
Mammalian Phenotype (MP)	abnormal neutrophil morphology	0.00004782	1.904	--	DIRECT
Mammalian Phenotype (MP)	abnormal immune cell physiology	0.00007398	0.9219	--	DIRECT
Mammalian Phenotype (MP)	abnormal cell-mediated immunity	0.00007706	0.9219	--	DIRECT
Mammalian Phenotype (MP)	abnormal adaptive immunity	0.0000844	0.9219	--	DIRECT
Mammalian Phenotype (MP)	abnormal blood cell physiology	0.0001086	0.8789	--	DIRECT
Mammalian Phenotype (MP)	abnormal leukocyte cell number	0.0001677	0.9129	--	DIRECT
Mammalian Phenotype (MP)	abnormal incidence of induced tumors	0.0003194	2.603	--	DIRECT
Mammalian Phenotype (MP)	abnormal leukocyte morphology	0.0003307	0.8108	--	DIRECT
Mammalian Phenotype (MP)	abnormal hematopoietic cell number	0.0003721	0.8473	--	DIRECT
Mammalian Phenotype (MP)	abnormal spleen size	0.001051	1.758	--	INHERITED FROM: enlarged spleen
Mammalian Phenotype (MP)	abnormal phagocyte morphology	0.001275	1.281	--	INHERITED FROM: abnormal neutrophil morphology || abnormal neutrophil cell number
Mammalian Phenotype (MP)	intestinal inflammation	0.003033	1.649	--	INHERITED FROM: colitis || large intestinal inflammation || abnormal susceptibility to induced colitis
Mammalian Phenotype (MP)	digestive/alimentary phenotype	0.0092	0.9404	--	INHERITED FROM: abnormal digestive system physiology || colitis || abnormal susceptibility to induced colitis || large intestinal inflammation || abnormal intestine physiology
Mammalian Phenotype (MP)	abnormal tumor incidence	0.01418	1.141	--	INHERITED FROM: abnormal incidence of induced tumors
Mammalian Phenotype (MP)	altered tumor susceptibility	0.01488	1.141	--	INHERITED FROM: abnormal incidence of induced tumors
Mammalian Phenotype (MP)	abnormal circulating protein level	0.01978	1.205	--	INHERITED FROM: abnormal circulating interleukin level || abnormal circulating interleukin-18 level || decreased circulating interleukin-18 level || abnormal circulating interleukin-1 beta level
Mammalian Phenotype (MP)	abnormal circulating cytokine level	0.0202	1.373	--	INHERITED FROM: abnormal circulating interleukin level || abnormal circulating interleukin-1 beta level || abnormal circulating interleukin-18 level || decreased circulating interleukin-18 level
Mammalian Phenotype (MP)	abnormal cytokine level	0.02065	1.348	--	INHERITED FROM: abnormal circulating interleukin-1 beta level || decreased circulating interleukin-18 level || abnormal circulating interleukin-18 level || abnormal circulating interleukin level
Mammalian Phenotype (MP)	abnormal circulating interleukin-1 level	0.02213	2.603	--	INHERITED FROM: abnormal circulating interleukin-1 beta level
Mammalian Phenotype (MP)	abnormal interleukin-1 secretion	0.02507	1.825	--	INHERITED FROM: abnormal interleukin-1 beta secretion || decreased interleukin-1 beta secretion
Mammalian Phenotype (MP)	abnormal granulocyte number	0.03096	1.758	--	INHERITED FROM: abnormal neutrophil cell number
Mammalian Phenotype (MP)	abnormal hematopoietic system physiology	0.04415	0.8789	--	INHERITED FROM: abnormal leukocyte physiology || abnormal blood cell physiology
Mammalian Phenotype (MP)	abnormal interferon secretion	0.07502	1.373	--	INHERITED FROM: abnormal interferon-gamma secretion
Mammalian Phenotype (MP)	abnormal myeloid leukocyte morphology	0.1009	1.223	--	INHERITED FROM: abnormal neutrophil morphology || abnormal neutrophil cell number || abnormal granulocyte morphology
Mammalian Phenotype (MP)	abnormal cytokine secretion	0.1337	1.085	--	INHERITED FROM: abnormal interleukin secretion || abnormal interleukin-18 secretion || abnormal interferon-gamma secretion || abnormal interleukin-1 beta secretion || decreased interleukin-1 beta secretion
Mammalian Phenotype (MP)	homeostasis/metabolism phenotype	0.149	0.3626	--	INHERITED FROM: abnormal circulating interleukin-18 level || decreased circulating interleukin-18 level || abnormal protein level || abnormal circulating interleukin level || abnormal circulating interleukin-1 beta level || abnormal intercellular signaling peptide or protein level
Mammalian Phenotype (MP)	abnormal immune system physiology	0.2063	0.6789	--	INHERITED FROM: abnormal cell-mediated immunity || abnormal interferon-gamma secretion || abnormal circulating interleukin-1 beta level || decreased interleukin-1 beta secretion || abnormal circulating interleukin-18 level || decreased circulating interleukin-18 level || abnormal interleukin-18 secretion || abnormal inflammatory response || abnormal circulating interleukin level || abnormal interleukin secretion || colitis || abnormal susceptibility to induced colitis || abnormal adaptive immunity || abnormal immune serum protein physiology || abnormal immune cell physiology || large intestinal inflammation || abnormal interleukin-1 beta secretion || abnormal leukocyte physiology
Mammalian Phenotype (MP)	abnormal interleukin level	0.2825	1.562	--	INHERITED FROM: decreased circulating interleukin-18 level || abnormal circulating interleukin-18 level || abnormal circulating interleukin-1 beta level || abnormal circulating interleukin level
Mammalian Phenotype (MP)	abnormal blood homeostasis	0.3434	0.6893	--	INHERITED FROM: abnormal circulating interleukin level || abnormal circulating interleukin-1 beta level || abnormal circulating interleukin-18 level || decreased circulating interleukin-18 level
Mammalian Phenotype (MP)	abnormal immune system cell morphology	0.3902	0.8038	--	INHERITED FROM: abnormal leukocyte cell number || abnormal granulocyte morphology || abnormal leukocyte morphology || abnormal neutrophil morphology || abnormal neutrophil cell number
Mammalian Phenotype (MP)	increased inflammatory response	0.5193	1.059	--	INHERITED FROM: abnormal susceptibility to induced colitis || large intestinal inflammation || colitis
Mammalian Phenotype (MP)	abnormal hematopoietic cell morphology	0.592	0.7167	--	INHERITED FROM: abnormal neutrophil morphology || abnormal neutrophil cell number || abnormal leukocyte cell number || abnormal granulocyte morphology || abnormal leukocyte morphology || abnormal hematopoietic cell number
Mammalian Phenotype (MP)	immune system phenotype	0	0.5462	Least Informative	DIRECT
Mammalian Phenotype (MP)	hematopoietic system phenotype	0	0.5945	Least Informative	DIRECT
Mammalian Phenotype (MP)	abnormal homeostasis	0.09235	0.4926	Least Informative	INHERITED FROM: decreased circulating interleukin-18 level || abnormal circulating interleukin-18 level || abnormal protein level || abnormal circulating interleukin level || abnormal circulating interleukin-1 beta level || abnormal intercellular signaling peptide or protein level
Mammalian Phenotype (MP)	abnormal immune serum protein physiology	0.0000136	1.001	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	abnormal inflammatory response	0.0000364	1.023	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	abnormal leukocyte physiology	0.00006545	0.9219	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	abnormal protein level	0.0003259	1.112	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	neoplasm	0.01966	1.035	Moderately Informative	INHERITED FROM: abnormal incidence of induced tumors
Mammalian Phenotype (MP)	abnormal immune system organ morphology	0.05716	1.112	Moderately Informative	INHERITED FROM: enlarged spleen
Mammalian Phenotype (MP)	abnormal myeloid cell morphology	0.4904	0.9904	Moderately Informative	INHERITED FROM: abnormal neutrophil morphology || abnormal neutrophil cell number || abnormal granulocyte morphology
Mammalian Phenotype (MP)	abnormal blood cell morphology	0.6015	0.9129	Moderately Informative	INHERITED FROM: abnormal neutrophil cell number || abnormal neutrophil morphology || abnormal granulocyte morphology
Mammalian Phenotype (MP)	abnormal circulating interleukin level	0.0000128	1.562	Informative	DIRECT
Mammalian Phenotype (MP)	abnormal interferon-gamma secretion	0.00001965	1.427	Informative	DIRECT
Mammalian Phenotype (MP)	abnormal granulocyte morphology	0.0003238	1.7	Informative	DIRECT
Mammalian Phenotype (MP)	abnormal digestive system physiology	0.0005791	1.399	Informative	DIRECT
Mammalian Phenotype (MP)	abnormal spleen morphology	0.1348	1.427	Informative	INHERITED FROM: enlarged spleen
Mammalian Phenotype (MP)	abnormal lymph organ size	0.6837	1.399	Informative	INHERITED FROM: enlarged spleen
Mammalian Phenotype (MP)	abnormal interleukin-1 beta secretion	0.00000974	1.825	Highly Informative	DIRECT
Mammalian Phenotype (MP)	abnormal neutrophil cell number	0.00003833	1.904	Highly Informative	DIRECT
Mammalian Phenotype (MP)	enlarged spleen	0.0002319	1.825	Highly Informative	DIRECT
Mammalian Phenotype (MP)	abnormal circulating interleukin-18 level	0.0005232	2.126	Highly Informative	DIRECT

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