Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of facial soft tissue (HP:0011799)

Grandparent Node:
Edema (HP:0000969)

Parent Node:
Abnormality of the periorbital region (HP:0000606)

Parent Node:
Facial edema (HP:0000282)

..Starting node
..Periorbital edema (HP:0100539)

Term ID:

100539

Name:

Periorbital edema

Synonym:

Periorbital cellulitis; Periorbital oedema

Definition:

Edema affecting the region situated around the orbit of the eye.

Comments:

Reference:

HP:0100539

Genes and Diseases:

Child Nodes:

........

Palpebral edema (HP:0100540)

................... HP:0010749 Blepharochalasis
................... HP:0012568 Lower eyelid edema
................... HP:0012724 Upper eyelid edema

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100539	HP:0100539	Periorbital edema	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0100539	HP:0100539	Periorbital edema	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0100539	HP:0100539	Periorbital edema	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	27
HP:0100539	HP:0100539	Periorbital edema	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0100539	HP:0100539	Periorbital edema	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0100539	HP:0100539	Periorbital edema	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0100539	HP:0100539	Periorbital edema	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	6
HP:0100539	HP:0100539	Periorbital edema	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0100539	HP:0100539	Periorbital edema	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	3
HP:0100539	HP:0100539	Periorbital edema	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	4
HP:0100539	HP:0100539	Periorbital edema	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	3
HP:0100539	HP:0100539	Periorbital edema	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0100539	HP:0100539	Periorbital edema	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0100539	HP:0100539	Periorbital edema	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0100539	HP:0100539	Periorbital edema	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	105
HP:0100539	HP:0100539	Periorbital edema	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100539	HP:0100539	Periorbital edema	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0100539	HP:0100539	Periorbital edema	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	161
HP:0100539	HP:0100539	Periorbital edema	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0100539	HP:0100539	Periorbital edema	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0100539	HP:0100539	Periorbital edema	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	35
HP:0100539	HP:0100539	Periorbital edema	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	12
HP:0100539	HP:0100539	Periorbital edema	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	10
HP:0100539	HP:0100539	Periorbital edema	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0100539	HP:0100539	Periorbital edema	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy		79
HP:0100539	HP:0100539	Periorbital edema	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0100539	HP:0100539	Periorbital edema	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0100539	HP:0100539	Periorbital edema	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	4
HP:0100539	HP:0100539	Periorbital edema	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional	3
HP:0100539	HP:0100539	Periorbital edema	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0100539	HP:0100539	Periorbital edema	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy		1
HP:0100539	HP:0100539	Periorbital edema	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0100539	HP:0100539	Periorbital edema	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0100539	HP:0100539	Periorbital edema	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0100539	HP:0100539	Periorbital edema	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100539	HP:0100539	Periorbital edema	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0100539	HP:0100539	Periorbital edema	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0100539	HP:0100539	Periorbital edema	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0100539	HP:0100539	Periorbital edema	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0100539	HP:0100539	Periorbital edema	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0100539	HP:0100539	Periorbital edema	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0100539	HP:0100539	Periorbital edema	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	1
HP:0100539	HP:0100539	Periorbital edema	0	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect	HP:0040283 - Occasional	3
HP:0100539	HP:0100539	Periorbital edema	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	135
HP:0100539	HP:0100539	Periorbital edema	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100539	HP:0100539	Periorbital edema	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0100539	HP:0100539	Periorbital edema	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0100539	HP:0100539	Periorbital edema	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome		276
HP:0100539	HP:0100539	Periorbital edema	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0100539	HP:0100539	Periorbital edema	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome		13
HP:0100539	HP:0100539	Periorbital edema	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0100539	HP:0100539	Periorbital edema	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	59
HP:0100539	HP:0100539	Periorbital edema	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100539	HP:0100539	Periorbital edema	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0100539	HP:0100539	Periorbital edema	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0100539	HP:0100539	Periorbital edema	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0100539	HP:0100539	Periorbital edema	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	3
HP:0100539	HP:0100539	Periorbital edema	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0100539	HP:0100539	Periorbital edema	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	241
HP:0100539	HP:0100539	Periorbital edema	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	69
HP:0100539	HP:0100539	Periorbital edema	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	5
HP:0100539	HP:0100539	Periorbital edema	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	1
HP:0100539	HP:0100539	Periorbital edema	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0100539	HP:0100539	Periorbital edema	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	1
HP:0100539	HP:0100539	Periorbital edema	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0100539	HP:0100539	Periorbital edema	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0100539	HP:0100539	Periorbital edema	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	5
HP:0100539	HP:0100539	Periorbital edema	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	39
HP:0100539	HP:0100539	Periorbital edema	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0100539	HP:0100539	Periorbital edema	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0100539	HP:0100539	Periorbital edema	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.	36
HP:0100539	HP:0100539	Periorbital edema	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0100539	HP:0100539	Periorbital edema	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	118
HP:0100539	HP:0100539	Periorbital edema	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.	2
HP:0100539	HP:0100539	Periorbital edema	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0100539	HP:0100539	Periorbital edema	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0100539	HP:0100539	Periorbital edema	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0100539	HP:0100539	Periorbital edema	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0100539	HP:0100539	Periorbital edema	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form		54
HP:0100539	HP:0100539	Periorbital edema	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	3
HP:0100539	HP:0100539	Periorbital edema	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	2
HP:0100539	HP:0100539	Periorbital edema	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0100539	HP:0100539	Periorbital edema	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0100539	HP:0100539	Periorbital edema	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0100539	HP:0100539	Periorbital edema	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0100539	HP:0100539	Periorbital edema	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0100539	HP:0100539	Periorbital edema	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0100539	HP:0100539	Periorbital edema	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0100539	HP:0100539	Periorbital edema	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy		174
HP:0100539	HP:0100539	Periorbital edema	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0100539	HP:0100539	Periorbital edema	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0100539	HP:0100539	Periorbital edema	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0100539	HP:0100539	Periorbital edema	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0100539	HP:0100539	Periorbital edema	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100539	HP:0100539	Periorbital edema	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0100539	HP:0100539	Periorbital edema	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	1
HP:0100539	HP:0100539	Periorbital edema	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type		58
HP:0100539	HP:0100539	Periorbital edema	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0100539	HP:0100539	Periorbital edema	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0100539	HP:0100539	Periorbital edema	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	107
HP:0100539	HP:0100539	Periorbital edema	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100539	HP:0100539	Periorbital edema	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	177
HP:0100539	HP:0100539	Periorbital edema	0	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0100539	HP:0100539	Periorbital edema	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome		1
HP:0100539	HP:0100540	Palpebral edema	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional	72
HP:0100539	HP:0100540	Palpebral edema	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional	123
HP:0100539	HP:0100540	Palpebral edema	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0100539	HP:0100540	Palpebral edema	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent	95
HP:0100539	HP:0100540	Palpebral edema	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0100539	HP:0100540	Palpebral edema	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	HP:0040283 - Occasional	34
HP:0100539	HP:0100540	Palpebral edema	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare	34
HP:0100539	HP:0100540	Palpebral edema	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100539	HP:0100540	Palpebral edema	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0100539	HP:0100540	Palpebral edema	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0100539	HP:0100540	Palpebral edema	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0100539	HP:0100540	Palpebral edema	1	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent	79
HP:0100539	HP:0100540	Palpebral edema	1	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent
HP:0100539	HP:0100540	Palpebral edema	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0100539	HP:0100540	Palpebral edema	1	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent	1
HP:0100539	HP:0100540	Palpebral edema	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0100539	HP:0100540	Palpebral edema	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent	1
HP:0100539	HP:0100540	Palpebral edema	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0100539	HP:0100540	Palpebral edema	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent	5
HP:0100539	HP:0100540	Palpebral edema	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0100539	HP:0100540	Palpebral edema	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100539	HP:0100540	Palpebral edema	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040282 - Frequent	11
HP:0100539	HP:0100540	Palpebral edema	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0100539	HP:0100540	Palpebral edema	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	276
HP:0100539	HP:0100540	Palpebral edema	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0100539	HP:0100540	Palpebral edema	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0100539	HP:0100540	Palpebral edema	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100539	HP:0100540	Palpebral edema	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0100539	HP:0100540	Palpebral edema	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0100539	HP:0100540	Palpebral edema	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0100539	HP:0100540	Palpebral edema	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0100539	HP:0100540	Palpebral edema	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional	54
HP:0100539	HP:0100540	Palpebral edema	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0100539	HP:0100540	Palpebral edema	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0100539	HP:0100540	Palpebral edema	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0100539	HP:0100540	Palpebral edema	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0100539	HP:0100540	Palpebral edema	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0100539	HP:0100540	Palpebral edema	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0100539	HP:0100540	Palpebral edema	1	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent	174
HP:0100539	HP:0100540	Palpebral edema	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent	14
HP:0100539	HP:0100540	Palpebral edema	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0100539	HP:0100540	Palpebral edema	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040282 - Frequent	7
HP:0100539	HP:0100540	Palpebral edema	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0100539	HP:0100540	Palpebral edema	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100539	HP:0100540	Palpebral edema	1	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type		58
HP:0100539	HP:0100540	Palpebral edema	1	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0100539	HP:0100540	Palpebral edema	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	1
HP:0100539	HP:0012568	Lower eyelid edema	2	CL E G H
HP:0100539	HP:0010749	Blepharochalasis	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0100539	HP:0010749	Blepharochalasis	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0100539	HP:0010749	Blepharochalasis	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0100539	HP:0010749	Blepharochalasis	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0100539	HP:0010749	Blepharochalasis	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0100539	HP:0012724	Upper eyelid edema	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0100539	HP:0010749	Blepharochalasis	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0100539	HP:0012724	Upper eyelid edema	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100539	HP:0012724	Upper eyelid edema	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100539	HP:0012724	Upper eyelid edema	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent	43
HP:0100539	HP:0012724	Upper eyelid edema	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68

Genes (108) :ACTB ACTG1 ACTN4 ADAMTS2 AIP ANKFY1 ANLN ANTXR1 APOL1 ARHGAP24 ARHGDIA BAZ1B BCL7B BUD23 CAMTA1 CCBE1 CD2AP CDH11 CLIP2 COL1A1 COL4A3 COL5A1 COL5A2 COQ8B CRB2 CTLA4 DAAM2 DNAJC30 DNMT3B DUX4 EIF4H ELN EMP2 EPHB4 FKBP6 FOXG1 FRG1 FRMD4A GAPVD1 GNPTAB GPR101 GSN GTF2I GTF2IRD1 GTF2IRD2 HLA-DPA1 HLA-DPB1 IGSF3 INF2 KAT6A KCTD1 KIF1A KNSTRN KPTN LIMK1 LTBP4 MAGI2 MED12L METTL27 MLXIPL MYD88 MYO1E NCF1 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PEX2 PEX5 PIEZO1 PIK3CD PLCE1 POMP POU4F1 PRTN3 PSMB4 PSMB9 PSPH PTPN22 PTPRO RFC2 RIN2 SERPING1 SHANK3 SLC29A3 SLC35C1 SMCHD1 SNX14 SOX18 SPTBN1 STX1A SUMF1 TBC1D8B TBL2 TGFBI TMEM270 TNFRSF1A TRPC6 VPS37D WT1 XPNPEP2 ZNHIT3

Diseases (52) :ORPHA:2995 ORPHA:656 OMIM:225410 ORPHA:963 ORPHA:2067 ORPHA:904 OMIM:614756 ORPHA:314647 OMIM:235510 ORPHA:1299 ORPHA:287 ORPHA:900 ORPHA:269 ORPHA:90186 ORPHA:261144 OMIM:616819 ORPHA:466688 OMIM:252500 ORPHA:85448 OMIM:149700 OMIM:616268 OMIM:181270 ORPHA:2036 ORPHA:2836 ORPHA:221139 ORPHA:397612 OMIM:613177 OMIM:618872 ORPHA:33226 OMIM:614866 OMIM:214110 OMIM:616843 OMIM:618048 OMIM:617591 ORPHA:79350 OMIM:613075 ORPHA:217335 OMIM:106100 ORPHA:48652 OMIM:606232 ORPHA:168569 ORPHA:99843 ORPHA:397709 OMIM:607823 OMIM:137940 ORPHA:69735 OMIM:619475 OMIM:272200 OMIM:608470 OMIM:142680 ORPHA:32960 ORPHA:100057

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

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