Human Phenotype Ontology 
Grandparent Node:
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Abnormality of fluid regulation (HP:0011032)help
Parent Node:
expand
Abnormality of facial soft tissue (HP:0011799)help
Parent Node:
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Edema (HP:0000969)help
..Starting node
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Facial edema (HP:0000282)help
Term ID: 282
Name: Facial edema
Synonym: Facial oedema; Facial puffiness; Facial swelling
Definition:
Comments:
Reference: HP:0000282
Genes and Diseases:
 
       Child Nodes:
........expandPeriorbital edema (HP:0100539) help
................... HP:0100540 Palpebral edema

 Sister Nodes: 
..expandAngioedema (HP:0100665) help
..expandCerebral edema (HP:0002181) help
..expandCorneal stromal edema (HP:0012040) help
..expandEdema of the dorsum of feet (HP:0012098) help
..expandEdema of the dorsum of hands (HP:0007514) help
..expandEdema of the upper limbs (HP:0010742) help
..expandGeneralized edema (HP:0007430) help
..expandGenital edema (HP:0031188) help
..expandHydrops fetalis (HP:0001789) help
..expandHyperkeratosis over edematous areas (HP:0007448) help
..expandHypoproteinemic edema (HP:0007609) help
..expandIncreased nuchal translucency (HP:0010880) help
..expandIntestinal edema (HP:0005225) help
..expandJoint swelling (HP:0001386) help
..expandLaryngeal edema (HP:0012027) help
..expandLymphedema (HP:0001004) help
..expandMacular edema (HP:0040049) help
..expandMuscular edema (HP:0100748) help
..expandPeau d'orange (HP:0025533) help
..expandPedal edema (HP:0010741) help
..expandPeripheral edema (HP:0012398) help
..expandPharyngeal edema (HP:0011855) help
..expandPleural effusion (HP:0002202) help
..expandPulmonary edema (HP:0100598) help
..expandTongue edema (HP:0040315) 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:0000282HP:0000282Facial edema0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0000282HP:0000282Facial edema0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0000282HP:0000282Facial edema0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndrome27
HP:0000282HP:0000282Facial edema0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0000282HP:0000282Facial edema0ADAMTS3 CL E G H9508219OMIM:618154Hennekam lymphangiectasia-lymphedema syndrome 3.1
HP:0000282HP:0000282Facial edema0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0000282HP:0000282Facial edema0ALB CL E G H213399ORPHA:86816Congenital analbuminemiaHP:0040283 - Occasional104
HP:0000282HP:0000282Facial edema0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0000282HP:0000282Facial edema0ANGPT1 CL E G H284484OMIM:619361ANGIOEDEMA, HEREDITARY, 5; HAE55
HP:0000282HP:0000282Facial edema0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000282HP:0000282Facial edema0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndrome6
HP:0000282HP:0000282Facial edema0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0000282HP:0000282Facial edema0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0000282HP:0000282Facial edema0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0000282HP:0000282Facial edema0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0000282HP:0000282Facial edema0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000282HP:0000282Facial edema0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0000282HP:0000282Facial edema0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0000282HP:0000282Facial edema0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndrome105
HP:0000282HP:0000282Facial edema0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000282HP:0000282Facial edema0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0000282HP:0000282Facial edema0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndrome161
HP:0000282HP:0000282Facial edema0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0000282HP:0000282Facial edema0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0000282HP:0000282Facial edema0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndrome35
HP:0000282HP:0000282Facial edema0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndrome12
HP:0000282HP:0000282Facial edema0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitis10
HP:0000282HP:0000282Facial edema0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000282HP:0000282Facial edema0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophy79
HP:0000282HP:0000282Facial edema0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional121
HP:0000282HP:0000282Facial edema0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional11
HP:0000282HP:0000282Facial edema0DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophy
HP:0000282HP:0000282Facial edema0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000282HP:0000282Facial edema0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0000282HP:0000282Facial edema0EPHB4 CL E G H20503395OMIM:617300Lymphatic malformation 7.3
HP:0000282HP:0000282Facial edema0EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040283 - Occasional3
HP:0000282HP:0000282Facial edema0F12 CL E G H21613530OMIM:610618ANGIOEDEMA, HEREDITARY, TYPE III; HAE328
HP:0000282HP:0000282Facial edema0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0000282HP:0000282Facial edema0FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophy1
HP:0000282HP:0000282Facial edema0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0000282HP:0000282Facial edema0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome1
HP:0000282HP:0000282Facial edema0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000282HP:0000282Facial edema0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000282HP:0000282Facial edema0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0000282HP:0000282Facial edema0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000282HP:0000282Facial edema0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000282HP:0000282Facial edema0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000282HP:0000282Facial edema0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000282HP:0000282Facial edema0HAVCR2 CL E G H8486818437OMIM:618398T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKEHP:0040284 - Very rare
HP:0000282HP:0000282Facial edema0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0000282HP:0000282Facial edema0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitis
HP:0000282HP:0000282Facial edema0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitis1
HP:0000282HP:0000282Facial edema0HS3ST6 CL E G H6471114178OMIM:619367ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0000282HP:0000282Facial edema0IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defect3
HP:0000282HP:0000282Facial edema0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndrome135
HP:0000282HP:0000282Facial edema0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional130
HP:0000282HP:0000282Facial edema0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000282HP:0000282Facial edema0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0000282HP:0000282Facial edema0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndrome11
HP:0000282HP:0000282Facial edema0KIF1A CL E G H547888ORPHA:2836PEHO syndrome276
HP:0000282HP:0000282Facial edema0KNG1 CL E G H38276383OMIM:619363ANGIOEDEMA, HEREDITARY, 6; HAE67
HP:0000282HP:0000282Facial edema0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0000282HP:0000282Facial edema0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0000282HP:0000282Facial edema0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0000282HP:0000282Facial edema0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0000282HP:0000282Facial edema0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC92
HP:0000282HP:0000282Facial edema0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndrome59
HP:0000282HP:0000282Facial edema0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000282HP:0000282Facial edema0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000282HP:0000282Facial edema0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000282HP:0000282Facial edema0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemia9
HP:0000282HP:0000282Facial edema0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0000282HP:0000282Facial edema0MYOF CL E G H265093656OMIM:619366ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0000282HP:0000282Facial edema0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000282HP:0000282Facial edema0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0000282HP:0000282Facial edema0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndrome241
HP:0000282HP:0000282Facial edema0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndrome69
HP:0000282HP:0000282Facial edema0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0000282HP:0000282Facial edema0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0000282HP:0000282Facial edema0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000282HP:0000282Facial edema0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0000282HP:0000282Facial edema0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000282HP:0000282Facial edema0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000282HP:0000282Facial edema0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0000282HP:0000282Facial edema0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndrome39
HP:0000282HP:0000282Facial edema0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger)82
HP:0000282HP:0000282Facial edema0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0000282HP:0000282Facial edema0PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III36
HP:0000282HP:0000282Facial edema0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0000282HP:0000282Facial edema0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndrome118
HP:0000282HP:0000282Facial edema0PLG CL E G H53409071OMIM:619360ANGIOEDEMA, HEREDITARY, 4; HAE411
HP:0000282HP:0000282Facial edema0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 22
HP:0000282HP:0000282Facial edema0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0000282HP:0000282Facial edema0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0000282HP:0000282Facial edema0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0000282HP:0000282Facial edema0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitis
HP:0000282HP:0000282Facial edema0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0000282HP:0000282Facial edema0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0000282HP:0000282Facial edema0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile form54
HP:0000282HP:0000282Facial edema0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitis3
HP:0000282HP:0000282Facial edema0PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndrome2
HP:0000282HP:0000282Facial edema0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0000282HP:0000282Facial edema0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000282HP:0000282Facial edema0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0000282HP:0000282Facial edema0SERPING1 CL E G H7101228OMIM:106100Angioedema, hereditary, 164
HP:0000282HP:0000282Facial edema0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 1HP:0040281 - Very frequent64
HP:0000282HP:0000282Facial edema0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0000282HP:0000282Facial edema0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000282HP:0000282Facial edema0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0000282HP:0000282Facial edema0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0000282HP:0000282Facial edema0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional59
HP:0000282HP:0000282Facial edema0SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophy174
HP:0000282HP:0000282Facial edema0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0000282HP:0000282Facial edema0SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome7
HP:0000282HP:0000282Facial edema0SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome7
HP:0000282HP:0000282Facial edema0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0000282HP:0000282Facial edema0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000282HP:0000282Facial edema0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency80
HP:0000282HP:0000282Facial edema0TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0000282HP:0000282Facial edema0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional155
HP:0000282HP:0000282Facial edema0TGFBI CL E G H704511771OMIM:608470Corneal dystrophy, Reis-Bucklers type58
HP:0000282HP:0000282Facial edema0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0000282HP:0000282Facial edema0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0000282HP:0000282Facial edema0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional92
HP:0000282HP:0000282Facial edema0TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndrome107
HP:0000282HP:0000282Facial edema0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0000282HP:0000282Facial edema0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000282HP:0000282Facial edema0WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndrome177
HP:0000282HP:0000282Facial edema0XPNPEP2 CL E G H751212823ORPHA:100057Renin-angiotensin-aldosterone system-blocker-induced angioedema4
HP:0000282HP:0000282Facial edema0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndrome1
HP:0000282HP:0100539Periorbital edema1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0000282HP:0100539Periorbital edema1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0000282HP:0100539Periorbital edema1ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent27
HP:0000282HP:0100539Periorbital edema1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0000282HP:0100539Periorbital edema1AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0000282HP:0100539Periorbital edema1ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000282HP:0100539Periorbital edema1ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent6
HP:0000282HP:0100539Periorbital edema1ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0000282HP:0100539Periorbital edema1APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000282HP:0100539Periorbital edema1ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent4
HP:0000282HP:0100539Periorbital edema1ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000282HP:0100539Periorbital edema1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000282HP:0100539Periorbital edema1CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0000282HP:0100539Periorbital edema1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000282HP:0100539Periorbital edema1CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent105
HP:0000282HP:0100539Periorbital edema1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000282HP:0100539Periorbital edema1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0000282HP:0100539Periorbital edema1COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent161
HP:0000282HP:0100539Periorbital edema1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0000282HP:0100539Periorbital edema1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0000282HP:0100539Periorbital edema1COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent35
HP:0000282HP:0100539Periorbital edema1CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent12
HP:0000282HP:0100539Periorbital edema1CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent10
HP:0000282HP:0100539Periorbital edema1DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000282HP:0100539Periorbital edema1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophy79
HP:0000282HP:0100539Periorbital edema1DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophy
HP:0000282HP:0100539Periorbital edema1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000282HP:0100539Periorbital edema1EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent4
HP:0000282HP:0100539Periorbital edema1EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040283 - Occasional3
HP:0000282HP:0100539Periorbital edema1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0000282HP:0100539Periorbital edema1FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophy1
HP:0000282HP:0100539Periorbital edema1FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0000282HP:0100539Periorbital edema1FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome1
HP:0000282HP:0100539Periorbital edema1GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000282HP:0100539Periorbital edema1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000282HP:0100539Periorbital edema1GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0000282HP:0100539Periorbital edema1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000282HP:0100539Periorbital edema1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000282HP:0100539Periorbital edema1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000282HP:0100539Periorbital edema1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000282HP:0100539Periorbital edema1HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0000282HP:0100539Periorbital edema1HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent1
HP:0000282HP:0100539Periorbital edema1IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defectHP:0040283 - Occasional3
HP:0000282HP:0100539Periorbital edema1INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent135
HP:0000282HP:0100539Periorbital edema1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000282HP:0100539Periorbital edema1KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0000282HP:0100539Periorbital edema1KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndrome11
HP:0000282HP:0100539Periorbital edema1KIF1A CL E G H547888ORPHA:2836PEHO syndrome276
HP:0000282HP:0100539Periorbital edema1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0000282HP:0100539Periorbital edema1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0000282HP:0100539Periorbital edema1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0000282HP:0100539Periorbital edema1MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent59
HP:0000282HP:0100539Periorbital edema1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000282HP:0100539Periorbital edema1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000282HP:0100539Periorbital edema1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000282HP:0100539Periorbital edema1MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0000282HP:0100539Periorbital edema1MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000282HP:0100539Periorbital edema1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000282HP:0100539Periorbital edema1NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent241
HP:0000282HP:0100539Periorbital edema1NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent69
HP:0000282HP:0100539Periorbital edema1NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent5
HP:0000282HP:0100539Periorbital edema1NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000282HP:0100539Periorbital edema1NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000282HP:0100539Periorbital edema1NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000282HP:0100539Periorbital edema1NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000282HP:0100539Periorbital edema1NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000282HP:0100539Periorbital edema1NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent5
HP:0000282HP:0100539Periorbital edema1PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent39
HP:0000282HP:0100539Periorbital edema1PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger)82
HP:0000282HP:0100539Periorbital edema1PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0000282HP:0100539Periorbital edema1PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III.36
HP:0000282HP:0100539Periorbital edema1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0000282HP:0100539Periorbital edema1PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent118
HP:0000282HP:0100539Periorbital edema1POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 2.2
HP:0000282HP:0100539Periorbital edema1POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0000282HP:0100539Periorbital edema1PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0000282HP:0100539Periorbital edema1PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000282HP:0100539Periorbital edema1PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000282HP:0100539Periorbital edema1PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile form54
HP:0000282HP:0100539Periorbital edema1PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent3
HP:0000282HP:0100539Periorbital edema1PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent2
HP:0000282HP:0100539Periorbital edema1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000282HP:0100539Periorbital edema1RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0000282HP:0100539Periorbital edema1SERPING1 CL E G H7101228OMIM:106100Angioedema, hereditary, 164
HP:0000282HP:0100539Periorbital edema1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0000282HP:0100539Periorbital edema1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000282HP:0100539Periorbital edema1SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0000282HP:0100539Periorbital edema1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0000282HP:0100539Periorbital edema1SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophy174
HP:0000282HP:0100539Periorbital edema1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0000282HP:0100539Periorbital edema1SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome7
HP:0000282HP:0100539Periorbital edema1SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0000282HP:0100539Periorbital edema1SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome7
HP:0000282HP:0100539Periorbital edema1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000282HP:0100539Periorbital edema1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0000282HP:0100539Periorbital edema1TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000282HP:0100539Periorbital edema1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1TGFBI CL E G H704511771OMIM:608470Corneal dystrophy, Reis-Bucklers type58
HP:0000282HP:0100539Periorbital edema1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0000282HP:0100539Periorbital edema1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0000282HP:0100539Periorbital edema1TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent107
HP:0000282HP:0100539Periorbital edema1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000282HP:0100539Periorbital edema1WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent177
HP:0000282HP:0100539Periorbital edema1XPNPEP2 CL E G H751212823ORPHA:100057Renin-angiotensin-aldosterone system-blocker-induced angioedema4
HP:0000282HP:0100539Periorbital edema1ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndrome1
HP:0000282HP:0100540Palpebral edema2ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional72
HP:0000282HP:0100540Palpebral edema2ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional123
HP:0000282HP:0100540Palpebral edema2ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0000282HP:0100540Palpebral edema2AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0000282HP:0100540Palpebral edema2ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0000282HP:0100540Palpebral edema2CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardationHP:0040283 - Occasional34
HP:0000282HP:0100540Palpebral edema2CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare34
HP:0000282HP:0100540Palpebral edema2CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000282HP:0100540Palpebral edema2COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0000282HP:0100540Palpebral edema2COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0000282HP:0100540Palpebral edema2COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0000282HP:0100540Palpebral edema2DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent79
HP:0000282HP:0100540Palpebral edema2DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent
HP:0000282HP:0100540Palpebral edema2FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040282 - Frequent177
HP:0000282HP:0100540Palpebral edema2FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent1
HP:0000282HP:0100540Palpebral edema2FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0000282HP:0100540Palpebral edema2FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0000282HP:0100540Palpebral edema2GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0000282HP:0100540Palpebral edema2GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0000282HP:0100540Palpebral edema2GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000282HP:0100540Palpebral edema2KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000282HP:0100540Palpebral edema2KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040282 - Frequent11
HP:0000282HP:0100540Palpebral edema2KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0000282HP:0100540Palpebral edema2KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040282 - Frequent276
HP:0000282HP:0100540Palpebral edema2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0000282HP:0100540Palpebral edema2KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0000282HP:0100540Palpebral edema2MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000282HP:0100540Palpebral edema2PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0000282HP:0100540Palpebral edema2PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0000282HP:0100540Palpebral edema2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0000282HP:0100540Palpebral edema2POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare
HP:0000282HP:0100540Palpebral edema2PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040283 - Occasional54
HP:0000282HP:0100540Palpebral edema2RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0000282HP:0100540Palpebral edema2RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0000282HP:0100540Palpebral edema2SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040282 - Frequent53
HP:0000282HP:0100540Palpebral edema2SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000282HP:0100540Palpebral edema2SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0000282HP:0100540Palpebral edema2SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0000282HP:0100540Palpebral edema2SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent174
HP:0000282HP:0100540Palpebral edema2SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040282 - Frequent14
HP:0000282HP:0100540Palpebral edema2SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome.7
HP:0000282HP:0100540Palpebral edema2SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHP:0040282 - Frequent7
HP:0000282HP:0100540Palpebral edema2SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0000282HP:0100540Palpebral edema2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000282HP:0100540Palpebral edema2TGFBI CL E G H704511771OMIM:608470Corneal dystrophy, Reis-Bucklers type58
HP:0000282HP:0100540Palpebral edema2XPNPEP2 CL E G H751212823ORPHA:100057Renin-angiotensin-aldosterone system-blocker-induced angioedema4
HP:0000282HP:0100540Palpebral edema2ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040282 - Frequent1
HP:0000282HP:0012568Lower eyelid edema3 CL E G H
HP:0000282HP:0010749Blepharochalasis3ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000282HP:0010749Blepharochalasis3CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000282HP:0010749Blepharochalasis3COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0000282HP:0010749Blepharochalasis3COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0000282HP:0010749Blepharochalasis3COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0000282HP:0012724Upper eyelid edema3FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0000282HP:0010749Blepharochalasis3GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040283 - Occasional53
HP:0000282HP:0012724Upper eyelid edema3KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000282HP:0012724Upper eyelid edema3MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000282HP:0012724Upper eyelid edema3RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040281 - Very frequent43
HP:0000282HP:0012724Upper eyelid edema3SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68


Genes (132) :ACTB ACTG1 ACTN4 ADAMTS2 ADAMTS3 AIP ALB ANAPC1 ANGPT1 ANKFY1 ANLN ANTXR1 APOL1 ARHGAP24 ARHGDIA BAZ1B BCL7B BUD23 CAMTA1 CCBE1 CD2AP CDH11 CLIP2 COL1A1 COL4A3 COL5A1 COL5A2 COQ8B CRB2 CTLA4 DAAM2 DNAJC30 DNMT3B DUOX2 DUOXA2 DUX4 EIF4H ELN EMP2 EPHB4 F12 FKBP6 FOXG1 FRG1 FRMD4A GAPVD1 GNPTAB GPR101 GSN GTF2I GTF2IRD1 GTF2IRD2 HAVCR2 HESX1 HLA-DPA1 HLA-DPB1 HS3ST6 IGSF3 INF2 IYD KAT6A KCTD1 KIF1A KNG1 KNSTRN KPTN LHX3 LHX4 LIMK1 LTBP4 MAGI2 MED12L METTL27 MLXIPL MYD88 MYO1E MYOF NCF1 NEU1 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PEX2 PEX5 PIEZO1 PIK3CD PLCE1 PLG POMP POU1F1 POU4F1 PROP1 PRTN3 PSMB4 PSMB9 PSPH PTPN22 PTPRO RECQL4 RFC2 RIN2 SERPING1 SHANK3 SLC29A3 SLC35C1 SLC5A5 SMCHD1 SNX14 SOX18 SPTBN1 STX1A SUMF1 TBC1D8B TBL2 TG TGFBI TMEM270 TNFRSF1A TPO TRPC6 TSHB VPS37D WT1 XPNPEP2 ZNHIT3

Diseases (69) :ORPHA:2995 ORPHA:656 OMIM:225410 OMIM:618154 ORPHA:963 ORPHA:86816 ORPHA:221008 OMIM:619361 ORPHA:2067 ORPHA:904 OMIM:614756 ORPHA:314647 OMIM:235510 ORPHA:1299 ORPHA:287 ORPHA:900 ORPHA:269 ORPHA:95716 OMIM:617300 ORPHA:90186 OMIM:610618 ORPHA:261144 OMIM:616819 ORPHA:466688 OMIM:252500 ORPHA:85448 OMIM:618398 ORPHA:226307 OMIM:619367 OMIM:149700 OMIM:616268 OMIM:181270 ORPHA:2036 ORPHA:2836 OMIM:619363 ORPHA:221139 ORPHA:397612 OMIM:613177 OMIM:618872 ORPHA:33226 OMIM:619366 OMIM:256550 OMIM:614866 OMIM:214110 OMIM:616843 OMIM:619360 OMIM:618048 OMIM:617591 ORPHA:79350 ORPHA:221016 OMIM:613075 ORPHA:217335 OMIM:106100 ORPHA:100050 ORPHA:48652 OMIM:606232 ORPHA:168569 ORPHA:99843 ORPHA:397709 OMIM:607823 ORPHA:69735 OMIM:137940 OMIM:619475 OMIM:272200 OMIM:608470 OMIM:142680 ORPHA:32960 ORPHA:90674 ORPHA:100057
 

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