Human Phenotype Ontology

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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 the orbital region (HP:0000315)

Grandparent Node:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormality of globe location (HP:0100886)

..Starting node
..Deeply set eye (HP:0000490)

Term ID:

490

Name:

Deeply set eye

Synonym:

Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes

Definition:

An eye that is more deeply recessed into the plane of the face than is typical.

Comments:

Reference:

HP:0000490

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cyclopia (HP:0009914)

Hypertelorism (HP:0000316)

Hypotelorism (HP:0000601)

Proptosis (HP:0000520)

Vertical orbital dystopia (HP:0030867)

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:0000490	HP:0000490	Deeply set eye	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0000490	HP:0000490	Deeply set eye	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0000490	HP:0000490	Deeply set eye	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000490	HP:0000490	Deeply set eye	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0000490	HP:0000490	Deeply set eye	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0000490	HP:0000490	Deeply set eye	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000490	HP:0000490	Deeply set eye	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000490	HP:0000490	Deeply set eye	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0000490	HP:0000490	Deeply set eye	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000490	HP:0000490	Deeply set eye	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000490	HP:0000490	Deeply set eye	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000490	HP:0000490	Deeply set eye	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0000490	HP:0000490	Deeply set eye	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0000490	HP:0000490	Deeply set eye	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0000490	HP:0000490	Deeply set eye	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000490	HP:0000490	Deeply set eye	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0000490	HP:0000490	Deeply set eye	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0000490	HP:0000490	Deeply set eye	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000490	HP:0000490	Deeply set eye	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000490	HP:0000490	Deeply set eye	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0000490	HP:0000490	Deeply set eye	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0000490	HP:0000490	Deeply set eye	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000490	HP:0000490	Deeply set eye	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0000490	HP:0000490	Deeply set eye	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000490	HP:0000490	Deeply set eye	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0000490	HP:0000490	Deeply set eye	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000490	HP:0000490	Deeply set eye	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0000490	HP:0000490	Deeply set eye	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0000490	HP:0000490	Deeply set eye	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0000490	HP:0000490	Deeply set eye	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000490	HP:0000490	Deeply set eye	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	35
HP:0000490	HP:0000490	Deeply set eye	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000490	HP:0000490	Deeply set eye	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000490	HP:0000490	Deeply set eye	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0000490	HP:0000490	Deeply set eye	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0000490	HP:0000490	Deeply set eye	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000490	HP:0000490	Deeply set eye	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000490	HP:0000490	Deeply set eye	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000490	HP:0000490	Deeply set eye	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0000490	HP:0000490	Deeply set eye	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.	156
HP:0000490	HP:0000490	Deeply set eye	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000490	HP:0000490	Deeply set eye	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000490	HP:0000490	Deeply set eye	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000490	HP:0000490	Deeply set eye	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000490	HP:0000490	Deeply set eye	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.	2
HP:0000490	HP:0000490	Deeply set eye	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0000490	HP:0000490	Deeply set eye	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.	5
HP:0000490	HP:0000490	Deeply set eye	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0000490	HP:0000490	Deeply set eye	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0000490	HP:0000490	Deeply set eye	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent	164
HP:0000490	HP:0000490	Deeply set eye	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000490	HP:0000490	Deeply set eye	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0000490	HP:0000490	Deeply set eye	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0000490	HP:0000490	Deeply set eye	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040282 - Frequent	144
HP:0000490	HP:0000490	Deeply set eye	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000490	HP:0000490	Deeply set eye	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0000490	HP:0000490	Deeply set eye	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0000490	HP:0000490	Deeply set eye	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000490	HP:0000490	Deeply set eye	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000490	HP:0000490	Deeply set eye	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000490	HP:0000490	Deeply set eye	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0000490	HP:0000490	Deeply set eye	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000490	HP:0000490	Deeply set eye	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0000490	HP:0000490	Deeply set eye	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040281 - Very frequent	5
HP:0000490	HP:0000490	Deeply set eye	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000490	HP:0000490	Deeply set eye	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0000490	HP:0000490	Deeply set eye	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0000490	HP:0000490	Deeply set eye	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0000490	HP:0000490	Deeply set eye	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	158
HP:0000490	HP:0000490	Deeply set eye	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional	158
HP:0000490	HP:0000490	Deeply set eye	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0000490	HP:0000490	Deeply set eye	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0000490	HP:0000490	Deeply set eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	199
HP:0000490	HP:0000490	Deeply set eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0000490	HP:0000490	Deeply set eye	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0000490	HP:0000490	Deeply set eye	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000490	HP:0000490	Deeply set eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	55
HP:0000490	HP:0000490	Deeply set eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0000490	HP:0000490	Deeply set eye	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000490	HP:0000490	Deeply set eye	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000490	HP:0000490	Deeply set eye	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0000490	HP:0000490	Deeply set eye	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0000490	HP:0000490	Deeply set eye	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000490	HP:0000490	Deeply set eye	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0000490	HP:0000490	Deeply set eye	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent	1361
HP:0000490	HP:0000490	Deeply set eye	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000490	HP:0000490	Deeply set eye	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45	.	8
HP:0000490	HP:0000490	Deeply set eye	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0000490	HP:0000490	Deeply set eye	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0000490	HP:0000490	Deeply set eye	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0000490	HP:0000490	Deeply set eye	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent	30
HP:0000490	HP:0000490	Deeply set eye	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000490	HP:0000490	Deeply set eye	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	10
HP:0000490	HP:0000490	Deeply set eye	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0000490	HP:0000490	Deeply set eye	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0000490	HP:0000490	Deeply set eye	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:0000490	HP:0000490	Deeply set eye	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0000490	HP:0000490	Deeply set eye	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0000490	HP:0000490	Deeply set eye	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0000490	HP:0000490	Deeply set eye	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0000490	HP:0000490	Deeply set eye	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000490	HP:0000490	Deeply set eye	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0000490	HP:0000490	Deeply set eye	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0000490	HP:0000490	Deeply set eye	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040283 - Occasional
HP:0000490	HP:0000490	Deeply set eye	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0000490	HP:0000490	Deeply set eye	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000490	HP:0000490	Deeply set eye	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0000490	HP:0000490	Deeply set eye	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000490	HP:0000490	Deeply set eye	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000490	HP:0000490	Deeply set eye	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent	10
HP:0000490	HP:0000490	Deeply set eye	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0000490	HP:0000490	Deeply set eye	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000490	HP:0000490	Deeply set eye	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0000490	HP:0000490	Deeply set eye	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0000490	HP:0000490	Deeply set eye	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0000490	HP:0000490	Deeply set eye	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0000490	HP:0000490	Deeply set eye	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000490	HP:0000490	Deeply set eye	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000490	HP:0000490	Deeply set eye	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	345
HP:0000490	HP:0000490	Deeply set eye	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000490	HP:0000490	Deeply set eye	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0000490	HP:0000490	Deeply set eye	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0000490	HP:0000490	Deeply set eye	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0000490	HP:0000490	Deeply set eye	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000490	HP:0000490	Deeply set eye	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0000490	HP:0000490	Deeply set eye	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0000490	HP:0000490	Deeply set eye	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000490	HP:0000490	Deeply set eye	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	1
HP:0000490	HP:0000490	Deeply set eye	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000490	HP:0000490	Deeply set eye	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000490	HP:0000490	Deeply set eye	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0000490	HP:0000490	Deeply set eye	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0000490	HP:0000490	Deeply set eye	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent	4
HP:0000490	HP:0000490	Deeply set eye	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0000490	HP:0000490	Deeply set eye	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000490	HP:0000490	Deeply set eye	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0000490	HP:0000490	Deeply set eye	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000490	HP:0000490	Deeply set eye	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0000490	HP:0000490	Deeply set eye	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040281 - Very frequent	16
HP:0000490	HP:0000490	Deeply set eye	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0000490	HP:0000490	Deeply set eye	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0000490	HP:0000490	Deeply set eye	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000490	HP:0000490	Deeply set eye	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000490	HP:0000490	Deeply set eye	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	63
HP:0000490	HP:0000490	Deeply set eye	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000490	HP:0000490	Deeply set eye	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000490	HP:0000490	Deeply set eye	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000490	HP:0000490	Deeply set eye	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0000490	HP:0000490	Deeply set eye	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0000490	HP:0000490	Deeply set eye	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000490	HP:0000490	Deeply set eye	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040282 - Frequent	7
HP:0000490	HP:0000490	Deeply set eye	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0000490	HP:0000490	Deeply set eye	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000490	HP:0000490	Deeply set eye	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000490	HP:0000490	Deeply set eye	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0000490	HP:0000490	Deeply set eye	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent	166
HP:0000490	HP:0000490	Deeply set eye	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000490	HP:0000490	Deeply set eye	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent	48
HP:0000490	HP:0000490	Deeply set eye	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	.	39
HP:0000490	HP:0000490	Deeply set eye	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0000490	HP:0000490	Deeply set eye	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0000490	HP:0000490	Deeply set eye	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0000490	HP:0000490	Deeply set eye	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0000490	HP:0000490	Deeply set eye	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000490	HP:0000490	Deeply set eye	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0000490	HP:0000490	Deeply set eye	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0000490	HP:0000490	Deeply set eye	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0000490	HP:0000490	Deeply set eye	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent	1
HP:0000490	HP:0000490	Deeply set eye	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0000490	HP:0000490	Deeply set eye	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent	55
HP:0000490	HP:0000490	Deeply set eye	0	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent	19
HP:0000490	HP:0000490	Deeply set eye	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000490	HP:0000490	Deeply set eye	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000490	HP:0000490	Deeply set eye	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000490	HP:0000490	Deeply set eye	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000490	HP:0000490	Deeply set eye	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000490	HP:0000490	Deeply set eye	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000490	HP:0000490	Deeply set eye	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0000490	HP:0000490	Deeply set eye	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040282 - Frequent	29
HP:0000490	HP:0000490	Deeply set eye	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0000490	HP:0000490	Deeply set eye	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040281 - Very frequent	77
HP:0000490	HP:0000490	Deeply set eye	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000490	HP:0000490	Deeply set eye	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000490	HP:0000490	Deeply set eye	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040283 - Occasional	162
HP:0000490	HP:0000490	Deeply set eye	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000490	HP:0000490	Deeply set eye	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0000490	HP:0000490	Deeply set eye	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent	43
HP:0000490	HP:0000490	Deeply set eye	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.	759
HP:0000490	HP:0000490	Deeply set eye	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0000490	HP:0000490	Deeply set eye	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	HP:0040283 - Occasional	10
HP:0000490	HP:0000490	Deeply set eye	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040284 - Very rare	138
HP:0000490	HP:0000490	Deeply set eye	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000490	HP:0000490	Deeply set eye	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000490	HP:0000490	Deeply set eye	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0000490	HP:0000490	Deeply set eye	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0000490	HP:0000490	Deeply set eye	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.	10
HP:0000490	HP:0000490	Deeply set eye	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	148
HP:0000490	HP:0000490	Deeply set eye	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000490	HP:0000490	Deeply set eye	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0000490	HP:0000490	Deeply set eye	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0000490	HP:0000490	Deeply set eye	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040281 - Very frequent	6
HP:0000490	HP:0000490	Deeply set eye	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0000490	HP:0000490	Deeply set eye	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000490	HP:0000490	Deeply set eye	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0000490	HP:0000490	Deeply set eye	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000490	HP:0000490	Deeply set eye	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000490	HP:0000490	Deeply set eye	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0000490	HP:0000490	Deeply set eye	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0000490	HP:0000490	Deeply set eye	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000490	HP:0000490	Deeply set eye	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0000490	HP:0000490	Deeply set eye	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000490	HP:0000490	Deeply set eye	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0000490	HP:0000490	Deeply set eye	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000490	HP:0000490	Deeply set eye	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0000490	HP:0000490	Deeply set eye	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	16
HP:0000490	HP:0000490	Deeply set eye	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000490	HP:0000490	Deeply set eye	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000490	HP:0000490	Deeply set eye	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000490	HP:0000490	Deeply set eye	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	86
HP:0000490	HP:0000490	Deeply set eye	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0000490	HP:0000490	Deeply set eye	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent	34
HP:0000490	HP:0000490	Deeply set eye	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0000490	HP:0000490	Deeply set eye	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0000490	HP:0000490	Deeply set eye	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000490	HP:0000490	Deeply set eye	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent	134
HP:0000490	HP:0000490	Deeply set eye	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000490	HP:0000490	Deeply set eye	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000490	HP:0000490	Deeply set eye	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000490	HP:0000490	Deeply set eye	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	150
HP:0000490	HP:0000490	Deeply set eye	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0000490	HP:0000490	Deeply set eye	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040283 - Occasional	93
HP:0000490	HP:0000490	Deeply set eye	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0000490	HP:0000490	Deeply set eye	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0000490	HP:0000490	Deeply set eye	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000490	HP:0000490	Deeply set eye	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0000490	HP:0000490	Deeply set eye	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000490	HP:0000490	Deeply set eye	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000490	HP:0000490	Deeply set eye	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000490	HP:0000490	Deeply set eye	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	4
HP:0000490	HP:0000490	Deeply set eye	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000490	HP:0000490	Deeply set eye	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000490	HP:0000490	Deeply set eye	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000490	HP:0000490	Deeply set eye	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000490	HP:0000490	Deeply set eye	0	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0000490	HP:0000490	Deeply set eye	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000490	HP:0000490	Deeply set eye	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0000490	HP:0000490	Deeply set eye	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0000490	HP:0000490	Deeply set eye	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent	12
HP:0000490	HP:0000490	Deeply set eye	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.	9
HP:0000490	HP:0000490	Deeply set eye	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040281 - Very frequent	9
HP:0000490	HP:0000490	Deeply set eye	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0000490	HP:0000490	Deeply set eye	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0000490	HP:0000490	Deeply set eye	0	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent	31
HP:0000490	HP:0000490	Deeply set eye	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0000490	HP:0000490	Deeply set eye	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0000490	HP:0000490	Deeply set eye	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000490	HP:0000490	Deeply set eye	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional	21
HP:0000490	HP:0000490	Deeply set eye	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0000490	HP:0000490	Deeply set eye	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0000490	HP:0000490	Deeply set eye	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0000490	HP:0000490	Deeply set eye	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0000490	HP:0000490	Deeply set eye	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0000490	HP:0000490	Deeply set eye	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0000490	HP:0000490	Deeply set eye	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0000490	HP:0000490	Deeply set eye	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0000490	HP:0000490	Deeply set eye	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000490	HP:0000490	Deeply set eye	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0000490	HP:0000490	Deeply set eye	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000490	HP:0000490	Deeply set eye	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0000490	HP:0000490	Deeply set eye	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0000490	HP:0000490	Deeply set eye	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0000490	HP:0000490	Deeply set eye	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	1
HP:0000490	HP:0000490	Deeply set eye	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0000490	HP:0000490	Deeply set eye	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent	166
HP:0000490	HP:0000490	Deeply set eye	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0000490	HP:0000490	Deeply set eye	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0000490	HP:0000490	Deeply set eye	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000490	HP:0000490	Deeply set eye	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0000490	HP:0000490	Deeply set eye	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0000490	HP:0000490	Deeply set eye	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0000490	HP:0000490	Deeply set eye	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000490	HP:0000490	Deeply set eye	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000490	HP:0000490	Deeply set eye	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.	11
HP:0000490	HP:0000490	Deeply set eye	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000490	HP:0000490	Deeply set eye	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0000490	HP:0000490	Deeply set eye	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0000490	HP:0000490	Deeply set eye	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000490	HP:0000490	Deeply set eye	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000490	HP:0000490	Deeply set eye	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0000490	HP:0000490	Deeply set eye	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0000490	HP:0000490	Deeply set eye	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0000490	HP:0000490	Deeply set eye	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000490	HP:0000490	Deeply set eye	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0000490	HP:0000490	Deeply set eye	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000490	HP:0000490	Deeply set eye	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000490	HP:0000490	Deeply set eye	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000490	HP:0000490	Deeply set eye	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000490	HP:0000490	Deeply set eye	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000490	HP:0000490	Deeply set eye	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000490	HP:0000490	Deeply set eye	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF

Genes (239) :ABL1 AGL AGO2 AHDC1 ALKBH8 ALMS1 ANKRD17 AP1S2 ARNT2 ASH1L ASXL3 ATAD3A ATN1 BAP1 BBS7 BCR BICRA BPTF BRCC3 CACNA1G CAMK2B CAMTA1 CARS1 CASZ1 CDH2 CDKL5 CENPF CEP57 CHN1 CILK1 CNOT3 COA3 COL3A1 COL5A1 COX5A COX8A CRB1 CREBBP CRKL CRPPA CTBP1 CTCF DCPS DEAF1 DHPS DIS3L2 DLK1 DNM1L DPH5 DPYD DPYSL5 DYRK1A EBF3 EDEM3 EEF1A2 EIF5A EMC1 EP300 EPB41L1 ERCC1 ERCC2 ERCC4 ERCC6 ERCC8 EXOSC2 EXTL3 FARSA FARSB FBN1 FBXO11 FBXO31 FIBP FLII FMR1 FOXF1 GABRD GATA4 GATAD2B GJA1 GJA5 GJA8 GLYCTK GNB2 GNS GORAB GPKOW GRIA3 GSC H3-3A H4C5 HACE1 HDAC4 HDAC8 HECW2 HHAT HMGA2 HS6ST2 HSPG2 HUWE1 HYLS1 IARS2 IGF1R IPO8 IQSEC2 JAG1 KAT6A KCNAB2 KCNK4 KDM5C KIDINS220 KIF7 KMT2B KMT2E KNSTRN LARP7 LAS1L LEMD3 LIFR LUZP1 MAFB MAPK1 MAPK8IP3 MED12L MEF2C MEG3 MEIS2 MMP23B MSL3 MYH3 NAA10 NALCN NDP NF1 NFIX NGF NOVA2 NTRK1 OCRL ODC1 OPHN1 ORAI1 OSGEP PAK1 PAK3 PDCD6IP PDPN PGAP1 PHF6 PIEZO2 PIGU PIGY PIK3CA PIK3CD PIK3R1 PLEC PLP1 POC1A POLR3A POU1F1 POU4F1 PPP2R5D PRDM16 PRKCZ PRKDC PRMT7 PRPS1 PRR12 PSMD12 PUF60 PUS7 PYCR1 RAB3GAP1 RAB3GAP2 RAI1 RALGAPA1 RARS2 RERE RNF2 RTL1 SALL4 SATB2 SEPTIN9 SETBP1 SETD1A SH3PXD2B SHANK3 SIN3A SKI SLC35A1 SLC9A6 SLC9A7 SMAD4 SMC1A SNRPN SON SPEN SPOP SPTBN1 SRC SRCAP SSR4 STAG1 STAT3 STIM1 SUOX SYNGAP1 TAF1 TAFAZZIN TBC1D20 TBCD TBCE TBCK TBL1XR1 TBX15 TCF20 TCF4 THOC6 TMEM237 TMEM67 TMEM94 TOGARAM1 TPRKB TRIM8 TRIP13 TRRAP TTC26 TTI2 UBE2A UBE3A UBE4B UGDH WAC WASF1 XRCC4 YARS1 ZBTB20 ZC4H2 ZEB2 ZPR1

Diseases (264) :OMIM:617602 OMIM:232400 OMIM:619149 ORPHA:412069 OMIM:618504 ORPHA:64 OMIM:619504 OMIM:304340 OMIM:615926 OMIM:617796 OMIM:615485 OMIM:617183 ORPHA:496790 OMIM:618494 OMIM:619762 OMIM:615984 ORPHA:261330 OMIM:619325 ORPHA:529962 ORPHA:280679 OMIM:618087 OMIM:617799 ORPHA:314647 OMIM:618891 ORPHA:1606 OMIM:618929 ORPHA:505652 OMIM:300672 OMIM:243605 OMIM:614114 ORPHA:233 OMIM:612651 OMIM:618672 OMIM:619058 OMIM:618343 ORPHA:286 OMIM:619329 OMIM:619064 OMIM:619059 OMIM:613835 OMIM:618332 OMIM:180849 OMIM:614643 OMIM:617915 ORPHA:363611 OMIM:616459 ORPHA:819 OMIM:618480 ORPHA:2849 ORPHA:96334 OMIM:614388 OMIM:620070 ORPHA:293948 OMIM:619435 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:617330 OMIM:619493 OMIM:616393 OMIM:619376 OMIM:616875 ORPHA:480898 OMIM:614257 OMIM:610758 OMIM:610756 ORPHA:90321 OMIM:278760 OMIM:610965 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:216400 OMIM:617763 ORPHA:508533 OMIM:619013 OMIM:613658 OMIM:616914 OMIM:154700 ORPHA:284979 OMIM:618089 OMIM:615979 ORPHA:500095 OMIM:617107 ORPHA:261483 OMIM:265380 ORPHA:251071 OMIM:615074 ORPHA:363686 ORPHA:2710 OMIM:612474 OMIM:220120 OMIM:619503 OMIM:252940 OMIM:231070 ORPHA:2570 OMIM:300699 ORPHA:364028 OMIM:602471 OMIM:619720 OMIM:619950 ORPHA:464282 ORPHA:1001 OMIM:600430 OMIM:300882 ORPHA:3459 OMIM:617268 ORPHA:1422 ORPHA:94063 OMIM:301025 OMIM:309590 ORPHA:2189 OMIM:616007 OMIM:270450 OMIM:619472 OMIM:118450 OMIM:616268 OMIM:618381 OMIM:300534 ORPHA:85279 OMIM:617296 ORPHA:521390 OMIM:619934 OMIM:618512 ORPHA:221139 OMIM:615071 ORPHA:319671 OMIM:601559 OMIM:618443 OMIM:618872 ORPHA:228384 OMIM:613443 ORPHA:261190 OMIM:600987 OMIM:301032 OMIM:193700 ORPHA:2053 OMIM:300855 OMIM:305390 ORPHA:649 ORPHA:97685 ORPHA:420179 ORPHA:64752 OMIM:618859 ORPHA:534 OMIM:619075 ORPHA:544488 OMIM:300486 ORPHA:137831 ORPHA:3204 OMIM:617729 OMIM:618158 OMIM:300558 OMIM:620047 OMIM:615802 OMIM:301900 ORPHA:127 OMIM:108145 ORPHA:1154 OMIM:618590 OMIM:616809 ORPHA:60040 OMIM:269880 ORPHA:3163 OMIM:612138 ORPHA:280229 OMIM:614813 ORPHA:447896 ORPHA:3455 OMIM:264090 OMIM:613038 OMIM:616355 OMIM:615966 OMIM:617157 ORPHA:464288 ORPHA:423479 OMIM:619539 ORPHA:508488 OMIM:618342 OMIM:612940 OMIM:614438 OMIM:600118 OMIM:614225 OMIM:182290 OMIM:618797 OMIM:611523 OMIM:616975 OMIM:619460 ORPHA:251028 ORPHA:576283 OMIM:162100 OMIM:616078 OMIM:619056 ORPHA:137834 ORPHA:48652 OMIM:606232 OMIM:613406 OMIM:603585 ORPHA:85278 OMIM:301024 OMIM:139210 OMIM:301044 OMIM:105830 ORPHA:177907 ORPHA:500150 OMIM:617140 OMIM:619312 OMIM:618828 OMIM:618829 OMIM:619475 OMIM:616937 ORPHA:2044 OMIM:136140 OMIM:300934 ORPHA:370927 OMIM:617635 ORPHA:502434 ORPHA:2314 OMIM:185070 OMIM:272300 ORPHA:544254 OMIM:300966 ORPHA:480907 OMIM:302060 OMIM:615663 OMIM:617193 OMIM:241410 ORPHA:2323 OMIM:616900 ORPHA:488632 ORPHA:487825 OMIM:602342 ORPHA:93333 OMIM:618430 OMIM:610954 ORPHA:2896 OMIM:613680 ORPHA:363444 OMIM:614424 ORPHA:140976 OMIM:602152 OMIM:618316 OMIM:619185 OMIM:617731 OMIM:619428 OMIM:617598 OMIM:618454 OMIM:619534 OMIM:615541 ORPHA:391307 OMIM:300860 OMIM:618792 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:618707 OMIM:616541 OMIM:619418 OMIM:259050 OMIM:301041 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:619321

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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