Human Phenotype Ontology

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:0000629	HP:0000629	Periorbital fullness	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000629	HP:0000629	Periorbital fullness	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related	HP:0040283 - Occasional	166
HP:0000629	HP:0000629	Periorbital fullness	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000629	HP:0000629	Periorbital fullness	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.	2
HP:0000629	HP:0000629	Periorbital fullness	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0000629	HP:0000629	Periorbital fullness	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0000629	HP:0000629	Periorbital fullness	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0000629	HP:0000629	Periorbital fullness	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000629	HP:0000629	Periorbital fullness	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000629	HP:0000629	Periorbital fullness	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000629	HP:0000629	Periorbital fullness	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000629	HP:0000629	Periorbital fullness	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000629	HP:0000629	Periorbital fullness	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9	.	13
HP:0000629	HP:0000629	Periorbital fullness	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0000629	HP:0000629	Periorbital fullness	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0000629	HP:0000629	Periorbital fullness	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0000629	HP:0000629	Periorbital fullness	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000629	HP:0000629	Periorbital fullness	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000629	HP:0000629	Periorbital fullness	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000629	HP:0000629	Periorbital fullness	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0000629	HP:0000629	Periorbital fullness	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000629	HP:0000629	Periorbital fullness	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000629	HP:0000629	Periorbital fullness	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0000629	HP:0000629	Periorbital fullness	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.	5
HP:0000629	HP:0000629	Periorbital fullness	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000629	HP:0000629	Periorbital fullness	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0000629	HP:0000629	Periorbital fullness	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000629	HP:0000629	Periorbital fullness	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0000629	HP:0000629	Periorbital fullness	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000629	HP:0000629	Periorbital fullness	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000629	HP:0000629	Periorbital fullness	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000629	HP:0000629	Periorbital fullness	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000629	HP:0000629	Periorbital fullness	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0000629	HP:0000629	Periorbital fullness	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0000629	HP:0000629	Periorbital fullness	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000629	HP:0000629	Periorbital fullness	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000629	HP:0000629	Periorbital fullness	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000629	HP:0000629	Periorbital fullness	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000629	HP:0000629	Periorbital fullness	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000629	HP:0000629	Periorbital fullness	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000629	HP:0000629	Periorbital fullness	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000629	HP:0000629	Periorbital fullness	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0000629	HP:0000629	Periorbital fullness	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0000629	HP:0000629	Periorbital fullness	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0000629	HP:0000629	Periorbital fullness	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0000629	HP:0000629	Periorbital fullness	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent	7
HP:0000629	HP:0000629	Periorbital fullness	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7