Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the digestive system (HP:0025031)help
Parent Node:
expand
Abnormality of the abdominal organs (HP:0002012)help
..Starting node
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Abnormality of the peritoneum (HP:0002585)help
Term ID: 2585
Name: Abnormality of the peritoneum
Synonym:
Definition: An abnormality of the peritoneum.
Comments:
Reference: HP:0002585
Genes and Diseases:
 
       Child Nodes:
........expandPeritonitis (HP:0002586) help
................... HP:0030717 Meconium peritonitis
........expandRetroperitoneal fibrosis (HP:0005200) help
........expandHemoperitoneum (HP:0011854) help
........expandPeritoneal effusion (HP:0030995) help
........expandPeritoneal mesothelioma (HP:0100003) help
........expandPeritoneal abscess (HP:0100592) help

 Sister Nodes: 
..expandAbnormality of abdominal situs (HP:0011620) help
..expandAbnormality of mesentery morphology (HP:0100016) help
..expandAbnormality of the liver (HP:0001392) help
..expandAbnormality of the pancreas (HP:0001732) help
..expandAbnormality of the spleen (HP:0001743) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002585HP:0002585Abnormality of the peritoneum0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndrome27
HP:0002585HP:0002585Abnormality of the peritoneum0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0002585HP:0002585Abnormality of the peritoneum0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndrome6
HP:0002585HP:0002585Abnormality of the peritoneum0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0002585HP:0002585Abnormality of the peritoneum0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0002585HP:0002585Abnormality of the peritoneum0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0002585HP:0002585Abnormality of the peritoneum0BCL2 CL E G H596990ORPHA:545Follicular lymphomaHP:0040283 - Occasional1
HP:0002585HP:0002585Abnormality of the peritoneum0BCL6 CL E G H6041001ORPHA:545Follicular lymphomaHP:0040283 - Occasional1
HP:0002585HP:0002585Abnormality of the peritoneum0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0002585HP:0002585Abnormality of the peritoneum0BRCA1 CL E G H6721100ORPHA:168829Primary peritoneal carcinoma5769
HP:0002585HP:0002585Abnormality of the peritoneum0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0002585HP:0002585Abnormality of the peritoneum0CALR CL E G H8111455ORPHA:131Budd-Chiari syndrome1
HP:0002585HP:0002585Abnormality of the peritoneum0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndrome105
HP:0002585HP:0002585Abnormality of the peritoneum0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0002585HP:0002585Abnormality of the peritoneum0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0002585HP:0002585Abnormality of the peritoneum0CFB CL E G H6291037OMIM:615561COMPLEMENT FACTOR B DEFICIENCY; CFBD30
HP:0002585HP:0002585Abnormality of the peritoneum0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndrome161
HP:0002585HP:0002585Abnormality of the peritoneum0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndrome35
HP:0002585HP:0002585Abnormality of the peritoneum0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndrome12
HP:0002585HP:0002585Abnormality of the peritoneum0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0002585HP:0002585Abnormality of the peritoneum0ELANE CL E G H19913309ORPHA:2686Cyclic neutropenia79
HP:0002585HP:0002585Abnormality of the peritoneum0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040283 - Occasional133
HP:0002585HP:0002585Abnormality of the peritoneum0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0002585HP:0002585Abnormality of the peritoneum0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040281 - Very frequent
HP:0002585HP:0002585Abnormality of the peritoneum0F10 CL E G H21593528ORPHA:328Congenital factor X deficiency33
HP:0002585HP:0002585Abnormality of the peritoneum0F5 CL E G H21533542ORPHA:131Budd-Chiari syndrome159
HP:0002585HP:0002585Abnormality of the peritoneum0FOCAD CL E G H5491423377OMIM:6199913
HP:0002585HP:0002585Abnormality of the peritoneum0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0002585HP:0002585Abnormality of the peritoneum0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphomaHP:0040283 - Occasional2
HP:0002585HP:0002585Abnormality of the peritoneum0IGH CL E G H34925477ORPHA:545Follicular lymphomaHP:0040283 - Occasional7
HP:0002585HP:0002585Abnormality of the peritoneum0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndrome135
HP:0002585HP:0002585Abnormality of the peritoneum0JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndrome57
HP:0002585HP:0002585Abnormality of the peritoneum0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinoma196
HP:0002585HP:0002585Abnormality of the peritoneum0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndrome59
HP:0002585HP:0002585Abnormality of the peritoneum0MEFV CL E G H42106998ORPHA:342Familial Mediterranean fever281
HP:0002585HP:0002585Abnormality of the peritoneum0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0002585HP:0002585Abnormality of the peritoneum0MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0002585HP:0002585Abnormality of the peritoneum0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic fever150
HP:0002585HP:0002585Abnormality of the peritoneum0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0002585HP:0002585Abnormality of the peritoneum0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0002585HP:0002585Abnormality of the peritoneum0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0002585HP:0002585Abnormality of the peritoneum0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndrome241
HP:0002585HP:0002585Abnormality of the peritoneum0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndrome69
HP:0002585HP:0002585Abnormality of the peritoneum0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0002585HP:0002585Abnormality of the peritoneum0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0002585HP:0002585Abnormality of the peritoneum0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0002585HP:0002585Abnormality of the peritoneum0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0002585HP:0002585Abnormality of the peritoneum0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0002585HP:0002585Abnormality of the peritoneum0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0002585HP:0002585Abnormality of the peritoneum0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0002585HP:0002585Abnormality of the peritoneum0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinoma1349
HP:0002585HP:0002585Abnormality of the peritoneum0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinoma192
HP:0002585HP:0002585Abnormality of the peritoneum0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndrome39
HP:0002585HP:0002585Abnormality of the peritoneum0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrum11
HP:0002585HP:0002585Abnormality of the peritoneum0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndrome118
HP:0002585HP:0002585Abnormality of the peritoneum0PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndrome2
HP:0002585HP:0002585Abnormality of the peritoneum0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinoma
HP:0002585HP:0002585Abnormality of the peritoneum0SERPINE1 CL E G H50548583ORPHA:465Congenital plasminogen activator inhibitor type 1 deficiency39
HP:0002585HP:0002585Abnormality of the peritoneum0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0002585HP:0002585Abnormality of the peritoneum0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinoma504
HP:0002585HP:0002585Abnormality of the peritoneum0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0002585HP:0002585Abnormality of the peritoneum0TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0002585HP:0002585Abnormality of the peritoneum0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0002585HP:0002585Abnormality of the peritoneum0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinoma911
HP:0002585HP:0002585Abnormality of the peritoneum0TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndrome107
HP:0002585HP:0002585Abnormality of the peritoneum0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrum26
HP:0002585HP:0002585Abnormality of the peritoneum0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040281 - Very frequent177
HP:0002585HP:0002585Abnormality of the peritoneum0WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndrome177
HP:0002585HP:0100003Peritoneal mesothelioma1 CL E G H
HP:0002585HP:0034477Perihepatic adhesions1 CL E G H
HP:0002585HP:0030995Peritoneal effusion1 CL E G H
HP:0002585HP:0002586Peritonitis1ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare27
HP:0002585HP:0002586Peritonitis1ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare
HP:0002585HP:0002586Peritonitis1ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare6
HP:0002585HP:0002586Peritonitis1APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare3
HP:0002585HP:0002586Peritonitis1ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare4
HP:0002585HP:0002586Peritonitis1ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare3
HP:0002585HP:0100592Peritoneal abscess1BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional5769
HP:0002585HP:0002586Peritonitis1BRCA1 CL E G H6721100ORPHA:168829Primary peritoneal carcinomaHP:0040281 - Very frequent5769
HP:0002585HP:0100592Peritoneal abscess1BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional7642
HP:0002585HP:0002586Peritonitis1CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040283 - Occasional1
HP:0002585HP:0002586Peritonitis1CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare105
HP:0002585HP:0002586Peritonitis1CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0002585HP:0100592Peritoneal abscess1CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional289
HP:0002585HP:0002586Peritonitis1CFB CL E G H6291037OMIM:615561COMPLEMENT FACTOR B DEFICIENCY; CFBD30
HP:0002585HP:0002586Peritonitis1COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare161
HP:0002585HP:0002586Peritonitis1COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare35
HP:0002585HP:0002586Peritonitis1CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare12
HP:0002585HP:0002586Peritonitis1DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare
HP:0002585HP:0002586Peritonitis1ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040284 - Very rare79
HP:0002585HP:0002586Peritonitis1EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare4
HP:0002585HP:0011854Hemoperitoneum1F10 CL E G H21593528ORPHA:328Congenital factor X deficiencyHP:0040284 - Very rare33
HP:0002585HP:0002586Peritonitis1F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040283 - Occasional159
HP:0002585HP:0002586Peritonitis1FOCAD CL E G H5491423377OMIM:6199913
HP:0002585HP:0002586Peritonitis1GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare
HP:0002585HP:0002586Peritonitis1INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare135
HP:0002585HP:0002586Peritonitis1JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040283 - Occasional57
HP:0002585HP:0100592Peritoneal abscess1KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional196
HP:0002585HP:0002586Peritonitis1MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare59
HP:0002585HP:0002586Peritonitis1MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040283 - Occasional281
HP:0002585HP:0002586Peritonitis1MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0002585HP:0002586Peritonitis1MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0002585HP:0002586Peritonitis1MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040283 - Occasional150
HP:0002585HP:0002586Peritonitis1MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0002585HP:0002586Peritonitis1MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare3
HP:0002585HP:0002586Peritonitis1NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare241
HP:0002585HP:0002586Peritonitis1NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare69
HP:0002585HP:0002586Peritonitis1NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare5
HP:0002585HP:0002586Peritonitis1NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare1
HP:0002585HP:0002586Peritonitis1NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare
HP:0002585HP:0002586Peritonitis1NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare1
HP:0002585HP:0002586Peritonitis1NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare
HP:0002585HP:0002586Peritonitis1NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare
HP:0002585HP:0002586Peritonitis1NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare5
HP:0002585HP:0100592Peritoneal abscess1PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional1349
HP:0002585HP:0100592Peritoneal abscess1PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional192
HP:0002585HP:0002586Peritonitis1PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare39
HP:0002585HP:0100592Peritoneal abscess1PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040283 - Occasional11
HP:0002585HP:0002586Peritonitis1PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare118
HP:0002585HP:0002586Peritonitis1PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare2
HP:0002585HP:0100592Peritoneal abscess1RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional
HP:0002585HP:0011854Hemoperitoneum1SERPINE1 CL E G H50548583ORPHA:465Congenital plasminogen activator inhibitor type 1 deficiencyHP:0040284 - Very rare39
HP:0002585HP:0005200Retroperitoneal fibrosis1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndromeHP:0040284 - Very rare68
HP:0002585HP:0100592Peritoneal abscess1SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional504
HP:0002585HP:0002586Peritonitis1TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare1
HP:0002585HP:0002586Peritonitis1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0002585HP:0100592Peritoneal abscess1TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional911
HP:0002585HP:0002586Peritonitis1TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare107
HP:0002585HP:0100592Peritoneal abscess1TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040283 - Occasional26
HP:0002585HP:0002586Peritonitis1WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040284 - Very rare177
HP:0002585HP:0034493Tubo-ovarian abscess2 CL E G H
HP:0002585HP:0030717Meconium peritonitis2CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79


Genes (64) :ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA BCL2 BCL6 BRCA1 BRCA2 CALR CD2AP CDC45 CDKN2A CFB COL4A3 COQ8B CRB2 DAAM2 ELANE ELP1 EMP2 EWSR1 F10 F5 FOCAD GAPVD1 HLA-DRB1 IGH INF2 JAK2 KRAS MAGI2 MEFV MVK MYH11 MYO1E NAB2 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PALB2 PALLD PAX2 PI4KA PLCE1 PTPRO RABL3 SERPINE1 SLC29A3 SMAD4 STAT6 TBC1D8B TNFRSF1A TP53 TRPC6 TTC7A WT1

Diseases (22) :ORPHA:656 ORPHA:545 ORPHA:1333 ORPHA:168829 ORPHA:131 OMIM:617063 OMIM:615561 ORPHA:2686 ORPHA:1764 ORPHA:83469 ORPHA:328 OMIM:619991 ORPHA:342 OMIM:249100 OMIM:134610 ORPHA:343 OMIM:619351 ORPHA:2126 ORPHA:436252 ORPHA:465 OMIM:602782 ORPHA:32960
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.