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:0100886	HP:0100886	Abnormality of globe location	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0100886	HP:0100886	Abnormality of globe location	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0100886	HP:0100886	Abnormality of globe location	0	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B		130
HP:0100886	HP:0100886	Abnormality of globe location	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0100886	HP:0100886	Abnormality of globe location	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0100886	HP:0100886	Abnormality of globe location	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0100886	HP:0100886	Abnormality of globe location	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0100886	HP:0100886	Abnormality of globe location	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0100886	HP:0100886	Abnormality of globe location	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency		120
HP:0100886	HP:0100886	Abnormality of globe location	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0100886	HP:0100886	Abnormality of globe location	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0100886	HP:0100886	Abnormality of globe location	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0100886	HP:0100886	Abnormality of globe location	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0100886	HP:0100886	Abnormality of globe location	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0100886	HP:0100886	Abnormality of globe location	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome		72
HP:0100886	HP:0100886	Abnormality of globe location	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0100886	HP:0100886	Abnormality of globe location	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0100886	HP:0100886	Abnormality of globe location	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects		2
HP:0100886	HP:0100886	Abnormality of globe location	0	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency		13
HP:0100886	HP:0100886	Abnormality of globe location	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency		13
HP:0100886	HP:0100886	Abnormality of globe location	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100886	HP:0100886	Abnormality of globe location	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0100886	HP:0100886	Abnormality of globe location	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3		1
HP:0100886	HP:0100886	Abnormality of globe location	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0100886	HP:0100886	Abnormality of globe location	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0100886	HP:0100886	Abnormality of globe location	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0100886	HP:0100886	Abnormality of globe location	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0100886	HP:0100886	Abnormality of globe location	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III		216
HP:0100886	HP:0100886	Abnormality of globe location	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0100886	HP:0100886	Abnormality of globe location	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0100886	HP:0100886	Abnormality of globe location	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0100886	HP:0100886	Abnormality of globe location	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0100886	HP:0100886	Abnormality of globe location	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0100886	HP:0100886	Abnormality of globe location	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0100886	HP:0100886	Abnormality of globe location	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome		19
HP:0100886	HP:0100886	Abnormality of globe location	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0100886	HP:0100886	Abnormality of globe location	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency		35
HP:0100886	HP:0100886	Abnormality of globe location	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik		58
HP:0100886	HP:0100886	Abnormality of globe location	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG		96
HP:0100886	HP:0100886	Abnormality of globe location	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0100886	HP:0100886	Abnormality of globe location	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0100886	HP:0100886	Abnormality of globe location	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0100886	HP:0100886	Abnormality of globe location	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0100886	HP:0100886	Abnormality of globe location	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0100886	HP:0100886	Abnormality of globe location	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0100886	HP:0100886	Abnormality of globe location	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0100886	HP:0100886	Abnormality of globe location	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0100886	HP:0100886	Abnormality of globe location	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0100886	HP:0100886	Abnormality of globe location	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood		126
HP:0100886	HP:0100886	Abnormality of globe location	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0100886	HP:0100886	Abnormality of globe location	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0100886	HP:0100886	Abnormality of globe location	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0100886	HP:0100886	Abnormality of globe location	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0100886	HP:0100886	Abnormality of globe location	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2		132
HP:0100886	HP:0100886	Abnormality of globe location	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0100886	HP:0100886	Abnormality of globe location	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0100886	HP:0100886	Abnormality of globe location	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0100886	HP:0100886	Abnormality of globe location	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia		164
HP:0100886	HP:0100886	Abnormality of globe location	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant		164
HP:0100886	HP:0100886	Abnormality of globe location	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0100886	HP:0100886	Abnormality of globe location	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0100886	HP:0100886	Abnormality of globe location	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0100886	HP:0100886	Abnormality of globe location	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0100886	HP:0100886	Abnormality of globe location	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0100886	HP:0100886	Abnormality of globe location	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0100886	HP:0100886	Abnormality of globe location	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0100886	HP:0100886	Abnormality of globe location	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0100886	HP:0100886	Abnormality of globe location	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0100886	HP:0100886	Abnormality of globe location	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0100886	HP:0100886	Abnormality of globe location	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0100886	HP:0100886	Abnormality of globe location	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0100886	HP:0100886	Abnormality of globe location	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0100886	HP:0100886	Abnormality of globe location	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0100886	HP:0100886	Abnormality of globe location	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0100886	HP:0100886	Abnormality of globe location	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive		512
HP:0100886	HP:0100886	Abnormality of globe location	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0100886	HP:0100886	Abnormality of globe location	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0100886	HP:0100886	Abnormality of globe location	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome		49
HP:0100886	HP:0100886	Abnormality of globe location	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0100886	HP:0100886	Abnormality of globe location	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0100886	HP:0100886	Abnormality of globe location	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0100886	HP:0100886	Abnormality of globe location	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0100886	HP:0100886	Abnormality of globe location	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0100886	HP:0100886	Abnormality of globe location	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0100886	HP:0100886	Abnormality of globe location	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0100886	HP:0100886	Abnormality of globe location	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0100886	HP:0100886	Abnormality of globe location	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0100886	HP:0100886	Abnormality of globe location	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0100886	HP:0100886	Abnormality of globe location	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0100886	HP:0100886	Abnormality of globe location	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0100886	HP:0100886	Abnormality of globe location	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0100886	HP:0100886	Abnormality of globe location	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0100886	HP:0100886	Abnormality of globe location	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0100886	HP:0100886	Abnormality of globe location	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0100886	HP:0100886	Abnormality of globe location	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0100886	HP:0100886	Abnormality of globe location	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0100886	HP:0100886	Abnormality of globe location	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type		22
HP:0100886	HP:0100886	Abnormality of globe location	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0100886	HP:0100886	Abnormality of globe location	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2		38
HP:0100886	HP:0100886	Abnormality of globe location	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0100886	HP:0100886	Abnormality of globe location	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		38
HP:0100886	HP:0100886	Abnormality of globe location	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0100886	HP:0100886	Abnormality of globe location	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0100886	HP:0100886	Abnormality of globe location	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0100886	HP:0100886	Abnormality of globe location	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0100886	HP:0100886	Abnormality of globe location	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0100886	HP:0100886	Abnormality of globe location	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0100886	HP:0100886	Abnormality of globe location	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0100886	HP:0100886	Abnormality of globe location	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0100886	HP:0100886	Abnormality of globe location	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0100886	HP:0100886	Abnormality of globe location	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0100886	HP:0100886	Abnormality of globe location	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0100886	HP:0100886	Abnormality of globe location	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0100886	HP:0100886	Abnormality of globe location	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0100886	HP:0100886	Abnormality of globe location	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0100886	HP:0100886	Abnormality of globe location	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0100886	HP:0100886	Abnormality of globe location	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0100886	HP:0100886	Abnormality of globe location	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0100886	HP:0100886	Abnormality of globe location	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0100886	HP:0100886	Abnormality of globe location	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0100886	HP:0100886	Abnormality of globe location	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0100886	HP:0100886	Abnormality of globe location	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0100886	HP:0100886	Abnormality of globe location	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0100886	HP:0100886	Abnormality of globe location	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0100886	HP:0100886	Abnormality of globe location	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0100886	HP:0100886	Abnormality of globe location	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0100886	HP:0100886	Abnormality of globe location	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0100886	HP:0100886	Abnormality of globe location	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0100886	HP:0100886	Abnormality of globe location	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0100886	HP:0100886	Abnormality of globe location	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0100886	HP:0100886	Abnormality of globe location	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0100886	HP:0100886	Abnormality of globe location	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0100886	HP:0100886	Abnormality of globe location	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0100886	HP:0100886	Abnormality of globe location	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0100886	HP:0100886	Abnormality of globe location	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0100886	HP:0100886	Abnormality of globe location	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis		10
HP:0100886	HP:0100886	Abnormality of globe location	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0100886	HP:0100886	Abnormality of globe location	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0100886	HP:0100886	Abnormality of globe location	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		32
HP:0100886	HP:0100886	Abnormality of globe location	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0100886	HP:0100886	Abnormality of globe location	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0100886	HP:0100886	Abnormality of globe location	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0100886	HP:0100886	Abnormality of globe location	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0100886	HP:0100886	Abnormality of globe location	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0100886	HP:0100886	Abnormality of globe location	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0100886	HP:0100886	Abnormality of globe location	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0100886	HP:0100886	Abnormality of globe location	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0100886	HP:0100886	Abnormality of globe location	0	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4		118
HP:0100886	HP:0100886	Abnormality of globe location	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0100886	HP:0100886	Abnormality of globe location	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type		118
HP:0100886	HP:0100886	Abnormality of globe location	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0100886	HP:0100886	Abnormality of globe location	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0100886	HP:0100886	Abnormality of globe location	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0100886	HP:0100886	Abnormality of globe location	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0100886	HP:0100886	Abnormality of globe location	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0100886	HP:0100886	Abnormality of globe location	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0100886	HP:0100886	Abnormality of globe location	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0100886	HP:0100886	Abnormality of globe location	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0100886	HP:0100886	Abnormality of globe location	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0100886	HP:0100886	Abnormality of globe location	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome		11
HP:0100886	HP:0100886	Abnormality of globe location	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies		3
HP:0100886	HP:0100886	Abnormality of globe location	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0100886	HP:0100886	Abnormality of globe location	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0100886	HP:0100886	Abnormality of globe location	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0100886	HP:0100886	Abnormality of globe location	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0100886	HP:0100886	Abnormality of globe location	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0100886	HP:0100886	Abnormality of globe location	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome		1003
HP:0100886	HP:0100886	Abnormality of globe location	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1		1003
HP:0100886	HP:0100886	Abnormality of globe location	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0100886	HP:0100886	Abnormality of globe location	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0100886	HP:0100886	Abnormality of globe location	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0100886	HP:0100886	Abnormality of globe location	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0100886	HP:0100886	Abnormality of globe location	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder		405
HP:0100886	HP:0100886	Abnormality of globe location	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0100886	HP:0100886	Abnormality of globe location	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0100886	HP:0100886	Abnormality of globe location	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0100886	HP:0100886	Abnormality of globe location	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11		200
HP:0100886	HP:0100886	Abnormality of globe location	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0100886	HP:0100886	Abnormality of globe location	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0100886	HP:0100886	Abnormality of globe location	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0100886	HP:0100886	Abnormality of globe location	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0100886	HP:0100886	Abnormality of globe location	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0100886	HP:0100886	Abnormality of globe location	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6		161
HP:0100886	HP:0100886	Abnormality of globe location	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0100886	HP:0100886	Abnormality of globe location	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0100886	HP:0100886	Abnormality of globe location	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0100886	HP:0100886	Abnormality of globe location	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0100886	HP:0100886	Abnormality of globe location	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0100886	HP:0100886	Abnormality of globe location	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0100886	HP:0100886	Abnormality of globe location	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0100886	HP:0100886	Abnormality of globe location	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0100886	HP:0100886	Abnormality of globe location	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0100886	HP:0100886	Abnormality of globe location	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0100886	HP:0100886	Abnormality of globe location	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome		52
HP:0100886	HP:0100886	Abnormality of globe location	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0100886	HP:0100886	Abnormality of globe location	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0100886	HP:0100886	Abnormality of globe location	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0100886	HP:0100886	Abnormality of globe location	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0100886	HP:0100886	Abnormality of globe location	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0100886	HP:0100886	Abnormality of globe location	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0100886	HP:0100886	Abnormality of globe location	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia		165
HP:0100886	HP:0100886	Abnormality of globe location	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0100886	HP:0100886	Abnormality of globe location	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0100886	HP:0100886	Abnormality of globe location	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0100886	HP:0100886	Abnormality of globe location	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0100886	HP:0100886	Abnormality of globe location	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive		15
HP:0100886	HP:0100886	Abnormality of globe location	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot		5
HP:0100886	HP:0100886	Abnormality of globe location	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0100886	HP:0100886	Abnormality of globe location	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0100886	HP:0100886	Abnormality of globe location	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10		7
HP:0100886	HP:0100886	Abnormality of globe location	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10		7
HP:0100886	HP:0100886	Abnormality of globe location	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0100886	HP:0100886	Abnormality of globe location	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north		40
HP:0100886	HP:0100886	Abnormality of globe location	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0100886	HP:0100886	Abnormality of globe location	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0100886	HP:0100886	Abnormality of globe location	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0100886	HP:0100886	Abnormality of globe location	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0100886	HP:0100886	Abnormality of globe location	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type		67
HP:0100886	HP:0100886	Abnormality of globe location	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0100886	HP:0100886	Abnormality of globe location	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome		215
HP:0100886	HP:0100886	Abnormality of globe location	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0100886	HP:0100886	Abnormality of globe location	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0100886	HP:0100886	Abnormality of globe location	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0100886	HP:0100886	Abnormality of globe location	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0100886	HP:0100886	Abnormality of globe location	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0100886	HP:0100886	Abnormality of globe location	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0100886	HP:0100886	Abnormality of globe location	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0100886	HP:0100886	Abnormality of globe location	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0100886	HP:0100886	Abnormality of globe location	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease		373
HP:0100886	HP:0100886	Abnormality of globe location	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0100886	HP:0100886	Abnormality of globe location	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0100886	HP:0100886	Abnormality of globe location	0	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0100886	HP:0100886	Abnormality of globe location	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0100886	HP:0100886	Abnormality of globe location	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type		284
HP:0100886	HP:0100886	Abnormality of globe location	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita		284
HP:0100886	HP:0100886	Abnormality of globe location	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0100886	HP:0100886	Abnormality of globe location	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1		284
HP:0100886	HP:0100886	Abnormality of globe location	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0100886	HP:0100886	Abnormality of globe location	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0100886	HP:0100886	Abnormality of globe location	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0100886	HP:0100886	Abnormality of globe location	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0100886	HP:0100886	Abnormality of globe location	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0100886	HP:0100886	Abnormality of globe location	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0100886	HP:0100886	Abnormality of globe location	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0100886	HP:0100886	Abnormality of globe location	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0100886	HP:0100886	Abnormality of globe location	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0100886	HP:0100886	Abnormality of globe location	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0100886	HP:0100886	Abnormality of globe location	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0100886	HP:0100886	Abnormality of globe location	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0100886	HP:0100886	Abnormality of globe location	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0100886	HP:0100886	Abnormality of globe location	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63		1
HP:0100886	HP:0100886	Abnormality of globe location	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy		1
HP:0100886	HP:0100886	Abnormality of globe location	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0100886	HP:0100886	Abnormality of globe location	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0100886	HP:0100886	Abnormality of globe location	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0100886	HP:0100886	Abnormality of globe location	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0100886	HP:0100886	Abnormality of globe location	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0100886	HP:0100886	Abnormality of globe location	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0100886	HP:0100886	Abnormality of globe location	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0100886	HP:0100886	Abnormality of globe location	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0100886	HP:0100886	Abnormality of globe location	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0100886	HP:0100886	Abnormality of globe location	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0100886	HP:0100886	Abnormality of globe location	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0100886	HP:0100886	Abnormality of globe location	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0100886	HP:0100886	Abnormality of globe location	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0100886	HP:0100886	Abnormality of globe location	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2
HP:0100886	HP:0100886	Abnormality of globe location	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0100886	HP:0100886	Abnormality of globe location	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0100886	HP:0100886	Abnormality of globe location	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0100886	HP:0100886	Abnormality of globe location	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0100886	HP:0100886	Abnormality of globe location	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0100886	HP:0100886	Abnormality of globe location	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100886	HP:0100886	Abnormality of globe location	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0100886	HP:0100886	Abnormality of globe location	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0100886	HP:0100886	Abnormality of globe location	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0100886	HP:0100886	Abnormality of globe location	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0100886	HP:0100886	Abnormality of globe location	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0100886	HP:0100886	Abnormality of globe location	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0100886	HP:0100886	Abnormality of globe location	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0100886	HP:0100886	Abnormality of globe location	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0100886	HP:0100886	Abnormality of globe location	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100886	HP:0100886	Abnormality of globe location	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0100886	HP:0100886	Abnormality of globe location	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0100886	HP:0100886	Abnormality of globe location	0	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor		670
HP:0100886	HP:0100886	Abnormality of globe location	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0100886	HP:0100886	Abnormality of globe location	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0100886	HP:0100886	Abnormality of globe location	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0100886	HP:0100886	Abnormality of globe location	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0100886	HP:0100886	Abnormality of globe location	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0100886	HP:0100886	Abnormality of globe location	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0100886	HP:0100886	Abnormality of globe location	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0100886	HP:0100886	Abnormality of globe location	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0100886	HP:0100886	Abnormality of globe location	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0100886	HP:0100886	Abnormality of globe location	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0100886	HP:0100886	Abnormality of globe location	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0100886	HP:0100886	Abnormality of globe location	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0100886	HP:0100886	Abnormality of globe location	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0100886	HP:0100886	Abnormality of globe location	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0100886	HP:0100886	Abnormality of globe location	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0100886	HP:0100886	Abnormality of globe location	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0100886	HP:0100886	Abnormality of globe location	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0100886	HP:0100886	Abnormality of globe location	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0100886	HP:0100886	Abnormality of globe location	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0100886	HP:0100886	Abnormality of globe location	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0100886	HP:0100886	Abnormality of globe location	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0100886	HP:0100886	Abnormality of globe location	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0100886	HP:0100886	Abnormality of globe location	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0100886	HP:0100886	Abnormality of globe location	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0100886	HP:0100886	Abnormality of globe location	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0100886	HP:0100886	Abnormality of globe location	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0100886	HP:0100886	Abnormality of globe location	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0100886	HP:0100886	Abnormality of globe location	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0100886	HP:0100886	Abnormality of globe location	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0100886	HP:0100886	Abnormality of globe location	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome		144
HP:0100886	HP:0100886	Abnormality of globe location	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0100886	HP:0100886	Abnormality of globe location	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100886	HP:0100886	Abnormality of globe location	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0100886	HP:0100886	Abnormality of globe location	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0100886	HP:0100886	Abnormality of globe location	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0100886	HP:0100886	Abnormality of globe location	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0100886	HP:0100886	Abnormality of globe location	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0100886	HP:0100886	Abnormality of globe location	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0100886	HP:0100886	Abnormality of globe location	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0100886	HP:0100886	Abnormality of globe location	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0100886	HP:0100886	Abnormality of globe location	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0100886	HP:0100886	Abnormality of globe location	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0100886	HP:0100886	Abnormality of globe location	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0100886	HP:0100886	Abnormality of globe location	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0100886	HP:0100886	Abnormality of globe location	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0100886	HP:0100886	Abnormality of globe location	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0100886	HP:0100886	Abnormality of globe location	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0100886	HP:0100886	Abnormality of globe location	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0100886	HP:0100886	Abnormality of globe location	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0100886	HP:0100886	Abnormality of globe location	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0100886	HP:0100886	Abnormality of globe location	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0100886	HP:0100886	Abnormality of globe location	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0100886	HP:0100886	Abnormality of globe location	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0100886	HP:0100886	Abnormality of globe location	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0100886	HP:0100886	Abnormality of globe location	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0100886	HP:0100886	Abnormality of globe location	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0100886	HP:0100886	Abnormality of globe location	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0100886	HP:0100886	Abnormality of globe location	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0100886	HP:0100886	Abnormality of globe location	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0100886	HP:0100886	Abnormality of globe location	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0100886	HP:0100886	Abnormality of globe location	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0100886	HP:0100886	Abnormality of globe location	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0100886	HP:0100886	Abnormality of globe location	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0100886	HP:0100886	Abnormality of globe location	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100886	HP:0100886	Abnormality of globe location	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome		12
HP:0100886	HP:0100886	Abnormality of globe location	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0100886	HP:0100886	Abnormality of globe location	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0100886	HP:0100886	Abnormality of globe location	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0100886	HP:0100886	Abnormality of globe location	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0100886	HP:0100886	Abnormality of globe location	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly		92
HP:0100886	HP:0100886	Abnormality of globe location	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0100886	HP:0100886	Abnormality of globe location	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0100886	HP:0100886	Abnormality of globe location	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0100886	HP:0100886	Abnormality of globe location	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis		209
HP:0100886	HP:0100886	Abnormality of globe location	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis		137
HP:0100886	HP:0100886	Abnormality of globe location	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0100886	HP:0100886	Abnormality of globe location	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		3
HP:0100886	HP:0100886	Abnormality of globe location	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0100886	HP:0100886	Abnormality of globe location	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0100886	HP:0100886	Abnormality of globe location	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome		102
HP:0100886	HP:0100886	Abnormality of globe location	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome		102
HP:0100886	HP:0100886	Abnormality of globe location	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0100886	HP:0100886	Abnormality of globe location	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0100886	HP:0100886	Abnormality of globe location	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0100886	HP:0100886	Abnormality of globe location	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0100886	HP:0100886	Abnormality of globe location	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0100886	HP:0100886	Abnormality of globe location	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0100886	HP:0100886	Abnormality of globe location	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia		35
HP:0100886	HP:0100886	Abnormality of globe location	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0100886	HP:0100886	Abnormality of globe location	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0100886	HP:0100886	Abnormality of globe location	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0100886	HP:0100886	Abnormality of globe location	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0100886	HP:0100886	Abnormality of globe location	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0100886	HP:0100886	Abnormality of globe location	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0100886	HP:0100886	Abnormality of globe location	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0100886	HP:0100886	Abnormality of globe location	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0100886	HP:0100886	Abnormality of globe location	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0100886	HP:0100886	Abnormality of globe location	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0100886	HP:0100886	Abnormality of globe location	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0100886	HP:0100886	Abnormality of globe location	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0100886	HP:0100886	Abnormality of globe location	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0100886	HP:0100886	Abnormality of globe location	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0100886	HP:0100886	Abnormality of globe location	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0100886	HP:0100886	Abnormality of globe location	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0100886	HP:0100886	Abnormality of globe location	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0100886	HP:0100886	Abnormality of globe location	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0100886	HP:0100886	Abnormality of globe location	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0100886	HP:0100886	Abnormality of globe location	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0100886	HP:0100886	Abnormality of globe location	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral		2
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia		18
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0100886	HP:0100886	Abnormality of globe location	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans		145
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome		145
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly		145
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome		145
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2		145
HP:0100886	HP:0100886	Abnormality of globe location	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency		301
HP:0100886	HP:0100886	Abnormality of globe location	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0100886	HP:0100886	Abnormality of globe location	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0100886	HP:0100886	Abnormality of globe location	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0100886	HP:0100886	Abnormality of globe location	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0100886	HP:0100886	Abnormality of globe location	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0100886	HP:0100886	Abnormality of globe location	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0100886	HP:0100886	Abnormality of globe location	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome		233
HP:0100886	HP:0100886	Abnormality of globe location	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0100886	HP:0100886	Abnormality of globe location	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot		90
HP:0100886	HP:0100886	Abnormality of globe location	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome		30
HP:0100886	HP:0100886	Abnormality of globe location	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0100886	HP:0100886	Abnormality of globe location	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0100886	HP:0100886	Abnormality of globe location	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0100886	HP:0100886	Abnormality of globe location	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0100886	HP:0100886	Abnormality of globe location	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0100886	HP:0100886	Abnormality of globe location	0	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly		198
HP:0100886	HP:0100886	Abnormality of globe location	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0100886	HP:0100886	Abnormality of globe location	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome		198
HP:0100886	HP:0100886	Abnormality of globe location	0	FREM1 CL E G H	158326	23399	OMIM:614485	Trigonocephaly 2		198
HP:0100886	HP:0100886	Abnormality of globe location	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0100886	HP:0100886	Abnormality of globe location	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0100886	HP:0100886	Abnormality of globe location	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0100886	HP:0100886	Abnormality of globe location	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0100886	HP:0100886	Abnormality of globe location	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0100886	HP:0100886	Abnormality of globe location	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0100886	HP:0100886	Abnormality of globe location	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0100886	HP:0100886	Abnormality of globe location	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0100886	HP:0100886	Abnormality of globe location	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0100886	HP:0100886	Abnormality of globe location	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0100886	HP:0100886	Abnormality of globe location	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0100886	HP:0100886	Abnormality of globe location	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0100886	HP:0100886	Abnormality of globe location	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0100886	HP:0100886	Abnormality of globe location	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0100886	HP:0100886	Abnormality of globe location	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot		87
HP:0100886	HP:0100886	Abnormality of globe location	0	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot		87
HP:0100886	HP:0100886	Abnormality of globe location	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot		10
HP:0100886	HP:0100886	Abnormality of globe location	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations		37
HP:0100886	HP:0100886	Abnormality of globe location	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot		37
HP:0100886	HP:0100886	Abnormality of globe location	0	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot		37
HP:0100886	HP:0100886	Abnormality of globe location	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0100886	HP:0100886	Abnormality of globe location	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0100886	HP:0100886	Abnormality of globe location	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0100886	HP:0100886	Abnormality of globe location	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot		28
HP:0100886	HP:0100886	Abnormality of globe location	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral		1
HP:0100886	HP:0100886	Abnormality of globe location	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia		68
HP:0100886	HP:0100886	Abnormality of globe location	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive		68
HP:0100886	HP:0100886	Abnormality of globe location	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0100886	HP:0100886	Abnormality of globe location	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0100886	HP:0100886	Abnormality of globe location	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot		39
HP:0100886	HP:0100886	Abnormality of globe location	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0100886	HP:0100886	Abnormality of globe location	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0100886	HP:0100886	Abnormality of globe location	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0100886	HP:0100886	Abnormality of globe location	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome		270
HP:0100886	HP:0100886	Abnormality of globe location	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0100886	HP:0100886	Abnormality of globe location	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0100886	HP:0100886	Abnormality of globe location	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100886	HP:0100886	Abnormality of globe location	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0100886	HP:0100886	Abnormality of globe location	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0100886	HP:0100886	Abnormality of globe location	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100886	HP:0100886	Abnormality of globe location	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0100886	HP:0100886	Abnormality of globe location	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0100886	HP:0100886	Abnormality of globe location	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0100886	HP:0100886	Abnormality of globe location	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0100886	HP:0100886	Abnormality of globe location	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0100886	HP:0100886	Abnormality of globe location	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0100886	HP:0100886	Abnormality of globe location	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0100886	HP:0100886	Abnormality of globe location	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0100886	HP:0100886	Abnormality of globe location	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0100886	HP:0100886	Abnormality of globe location	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0100886	HP:0100886	Abnormality of globe location	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0100886	HP:0100886	Abnormality of globe location	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0100886	HP:0100886	Abnormality of globe location	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0100886	HP:0100886	Abnormality of globe location	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0100886	HP:0100886	Abnormality of globe location	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0100886	HP:0100886	Abnormality of globe location	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0100886	HP:0100886	Abnormality of globe location	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0100886	HP:0100886	Abnormality of globe location	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0100886	HP:0100886	Abnormality of globe location	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0100886	HP:0100886	Abnormality of globe location	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0100886	HP:0100886	Abnormality of globe location	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0100886	HP:0100886	Abnormality of globe location	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0100886	HP:0100886	Abnormality of globe location	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0100886	HP:0100886	Abnormality of globe location	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100886	HP:0100886	Abnormality of globe location	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0100886	HP:0100886	Abnormality of globe location	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0100886	HP:0100886	Abnormality of globe location	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0100886	HP:0100886	Abnormality of globe location	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0100886	HP:0100886	Abnormality of globe location	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0100886	HP:0100886	Abnormality of globe location	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome		33
HP:0100886	HP:0100886	Abnormality of globe location	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0100886	HP:0100886	Abnormality of globe location	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0100886	HP:0100886	Abnormality of globe location	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome		37
HP:0100886	HP:0100886	Abnormality of globe location	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0100886	HP:0100886	Abnormality of globe location	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0100886	HP:0100886	Abnormality of globe location	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4		6
HP:0100886	HP:0100886	Abnormality of globe location	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0100886	HP:0100886	Abnormality of globe location	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0100886	HP:0100886	Abnormality of globe location	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0100886	HP:0100886	Abnormality of globe location	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0100886	HP:0100886	Abnormality of globe location	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0100886	HP:0100886	Abnormality of globe location	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0100886	HP:0100886	Abnormality of globe location	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0100886	HP:0100886	Abnormality of globe location	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0100886	HP:0100886	Abnormality of globe location	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0100886	HP:0100886	Abnormality of globe location	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0100886	HP:0100886	Abnormality of globe location	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0100886	HP:0100886	Abnormality of globe location	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0100886	HP:0100886	Abnormality of globe location	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0100886	HP:0100886	Abnormality of globe location	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0100886	HP:0100886	Abnormality of globe location	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital		113
HP:0100886	HP:0100886	Abnormality of globe location	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0100886	HP:0100886	Abnormality of globe location	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0100886	HP:0100886	Abnormality of globe location	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0100886	HP:0100886	Abnormality of globe location	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0100886	HP:0100886	Abnormality of globe location	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0100886	HP:0100886	Abnormality of globe location	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0100886	HP:0100886	Abnormality of globe location	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0100886	HP:0100886	Abnormality of globe location	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0100886	HP:0100886	Abnormality of globe location	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0100886	HP:0100886	Abnormality of globe location	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0100886	HP:0100886	Abnormality of globe location	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0100886	HP:0100886	Abnormality of globe location	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0100886	HP:0100886	Abnormality of globe location	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0100886	HP:0100886	Abnormality of globe location	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0100886	HP:0100886	Abnormality of globe location	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0100886	HP:0100886	Abnormality of globe location	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0100886	HP:0100886	Abnormality of globe location	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0100886	HP:0100886	Abnormality of globe location	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0100886	HP:0100886	Abnormality of globe location	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0100886	HP:0100886	Abnormality of globe location	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0100886	HP:0100886	Abnormality of globe location	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0100886	HP:0100886	Abnormality of globe location	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0100886	HP:0100886	Abnormality of globe location	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0100886	HP:0100886	Abnormality of globe location	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0100886	HP:0100886	Abnormality of globe location	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0100886	HP:0100886	Abnormality of globe location	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0100886	HP:0100886	Abnormality of globe location	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0100886	HP:0100886	Abnormality of globe location	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0100886	HP:0100886	Abnormality of globe location	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0100886	HP:0100886	Abnormality of globe location	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0100886	HP:0100886	Abnormality of globe location	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0100886	HP:0100886	Abnormality of globe location	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100886	HP:0100886	Abnormality of globe location	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0100886	HP:0100886	Abnormality of globe location	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease		1
HP:0100886	HP:0100886	Abnormality of globe location	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0100886	HP:0100886	Abnormality of globe location	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0100886	HP:0100886	Abnormality of globe location	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0100886	HP:0100886	Abnormality of globe location	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral		4
HP:0100886	HP:0100886	Abnormality of globe location	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1		4
HP:0100886	HP:0100886	Abnormality of globe location	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0100886	HP:0100886	Abnormality of globe location	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot		257
HP:0100886	HP:0100886	Abnormality of globe location	0	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot		257
HP:0100886	HP:0100886	Abnormality of globe location	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0100886	HP:0100886	Abnormality of globe location	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100886	HP:0100886	Abnormality of globe location	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0100886	HP:0100886	Abnormality of globe location	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0100886	HP:0100886	Abnormality of globe location	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		10
HP:0100886	HP:0100886	Abnormality of globe location	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0100886	HP:0100886	Abnormality of globe location	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome		3
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0100886	HP:0100886	Abnormality of globe location	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0100886	HP:0100886	Abnormality of globe location	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0100886	HP:0100886	Abnormality of globe location	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0100886	HP:0100886	Abnormality of globe location	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0100886	HP:0100886	Abnormality of globe location	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot		40
HP:0100886	HP:0100886	Abnormality of globe location	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0100886	HP:0100886	Abnormality of globe location	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0100886	HP:0100886	Abnormality of globe location	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV		4
HP:0100886	HP:0100886	Abnormality of globe location	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0100886	HP:0100886	Abnormality of globe location	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100886	HP:0100886	Abnormality of globe location	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0100886	HP:0100886	Abnormality of globe location	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0100886	HP:0100886	Abnormality of globe location	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0100886	HP:0100886	Abnormality of globe location	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type		167
HP:0100886	HP:0100886	Abnormality of globe location	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0100886	HP:0100886	Abnormality of globe location	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0100886	HP:0100886	Abnormality of globe location	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0100886	HP:0100886	Abnormality of globe location	0	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0100886	HP:0100886	Abnormality of globe location	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0100886	HP:0100886	Abnormality of globe location	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome		91
HP:0100886	HP:0100886	Abnormality of globe location	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome		91
HP:0100886	HP:0100886	Abnormality of globe location	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0100886	HP:0100886	Abnormality of globe location	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive		112
HP:0100886	HP:0100886	Abnormality of globe location	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0100886	HP:0100886	Abnormality of globe location	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0100886	HP:0100886	Abnormality of globe location	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0100886	HP:0100886	Abnormality of globe location	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0100886	HP:0100886	Abnormality of globe location	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0100886	HP:0100886	Abnormality of globe location	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0100886	HP:0100886	Abnormality of globe location	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0100886	HP:0100886	Abnormality of globe location	0	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type		1
HP:0100886	HP:0100886	Abnormality of globe location	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome		16
HP:0100886	HP:0100886	Abnormality of globe location	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome		16
HP:0100886	HP:0100886	Abnormality of globe location	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome		8
HP:0100886	HP:0100886	Abnormality of globe location	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100886	HP:0100886	Abnormality of globe location	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0100886	HP:0100886	Abnormality of globe location	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0100886	HP:0100886	Abnormality of globe location	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome		68
HP:0100886	HP:0100886	Abnormality of globe location	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0100886	HP:0100886	Abnormality of globe location	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0100886	HP:0100886	Abnormality of globe location	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome		88
HP:0100886	HP:0100886	Abnormality of globe location	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0100886	HP:0100886	Abnormality of globe location	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0100886	HP:0100886	Abnormality of globe location	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0100886	HP:0100886	Abnormality of globe location	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0100886	HP:0100886	Abnormality of globe location	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0100886	HP:0100886	Abnormality of globe location	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0100886	HP:0100886	Abnormality of globe location	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0100886	HP:0100886	Abnormality of globe location	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0100886	HP:0100886	Abnormality of globe location	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0100886	HP:0100886	Abnormality of globe location	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0100886	HP:0100886	Abnormality of globe location	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0100886	HP:0100886	Abnormality of globe location	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0100886	HP:0100886	Abnormality of globe location	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2		124
HP:0100886	HP:0100886	Abnormality of globe location	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome		125
HP:0100886	HP:0100886	Abnormality of globe location	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0100886	HP:0100886	Abnormality of globe location	0	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0100886	HP:0100886	Abnormality of globe location	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0100886	HP:0100886	Abnormality of globe location	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0100886	HP:0100886	Abnormality of globe location	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0100886	HP:0100886	Abnormality of globe location	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0100886	HP:0100886	Abnormality of globe location	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0100886	HP:0100886	Abnormality of globe location	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0100886	HP:0100886	Abnormality of globe location	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0100886	HP:0100886	Abnormality of globe location	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0100886	HP:0100886	Abnormality of globe location	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0100886	HP:0100886	Abnormality of globe location	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0100886	HP:0100886	Abnormality of globe location	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0100886	HP:0100886	Abnormality of globe location	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy		63
HP:0100886	HP:0100886	Abnormality of globe location	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0100886	HP:0100886	Abnormality of globe location	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0100886	HP:0100886	Abnormality of globe location	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0100886	HP:0100886	Abnormality of globe location	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0100886	HP:0100886	Abnormality of globe location	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0100886	HP:0100886	Abnormality of globe location	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0100886	HP:0100886	Abnormality of globe location	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0100886	HP:0100886	Abnormality of globe location	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0100886	HP:0100886	Abnormality of globe location	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0100886	HP:0100886	Abnormality of globe location	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0100886	HP:0100886	Abnormality of globe location	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0100886	HP:0100886	Abnormality of globe location	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0100886	HP:0100886	Abnormality of globe location	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0100886	HP:0100886	Abnormality of globe location	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0100886	HP:0100886	Abnormality of globe location	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0100886	HP:0100886	Abnormality of globe location	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25		25
HP:0100886	HP:0100886	Abnormality of globe location	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0100886	HP:0100886	Abnormality of globe location	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0100886	HP:0100886	Abnormality of globe location	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0100886	HP:0100886	Abnormality of globe location	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0100886	HP:0100886	Abnormality of globe location	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0100886	HP:0100886	Abnormality of globe location	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0100886	HP:0100886	Abnormality of globe location	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0100886	HP:0100886	Abnormality of globe location	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0100886	HP:0100886	Abnormality of globe location	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100886	HP:0100886	Abnormality of globe location	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0100886	HP:0100886	Abnormality of globe location	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0100886	HP:0100886	Abnormality of globe location	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0100886	HP:0100886	Abnormality of globe location	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0100886	HP:0100886	Abnormality of globe location	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0100886	HP:0100886	Abnormality of globe location	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0100886	HP:0100886	Abnormality of globe location	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome		132
HP:0100886	HP:0100886	Abnormality of globe location	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0100886	HP:0100886	Abnormality of globe location	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0100886	HP:0100886	Abnormality of globe location	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0100886	HP:0100886	Abnormality of globe location	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0100886	HP:0100886	Abnormality of globe location	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0100886	HP:0100886	Abnormality of globe location	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0100886	HP:0100886	Abnormality of globe location	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0100886	HP:0100886	Abnormality of globe location	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0100886	HP:0100886	Abnormality of globe location	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100886	HP:0100886	Abnormality of globe location	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0100886	HP:0100886	Abnormality of globe location	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0100886	HP:0100886	Abnormality of globe location	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0100886	HP:0100886	Abnormality of globe location	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0100886	HP:0100886	Abnormality of globe location	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0100886	HP:0100886	Abnormality of globe location	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0100886	HP:0100886	Abnormality of globe location	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0100886	HP:0100886	Abnormality of globe location	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0100886	HP:0100886	Abnormality of globe location	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0100886	HP:0100886	Abnormality of globe location	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0100886	HP:0100886	Abnormality of globe location	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0100886	HP:0100886	Abnormality of globe location	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0100886	HP:0100886	Abnormality of globe location	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2		45
HP:0100886	HP:0100886	Abnormality of globe location	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly		183
HP:0100886	HP:0100886	Abnormality of globe location	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0100886	HP:0100886	Abnormality of globe location	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0100886	HP:0100886	Abnormality of globe location	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0100886	HP:0100886	Abnormality of globe location	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0100886	HP:0100886	Abnormality of globe location	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0100886	HP:0100886	Abnormality of globe location	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0100886	HP:0100886	Abnormality of globe location	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0100886	HP:0100886	Abnormality of globe location	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0100886	HP:0100886	Abnormality of globe location	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0100886	HP:0100886	Abnormality of globe location	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0100886	HP:0100886	Abnormality of globe location	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0100886	HP:0100886	Abnormality of globe location	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0100886	HP:0100886	Abnormality of globe location	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0100886	HP:0100886	Abnormality of globe location	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0100886	HP:0100886	Abnormality of globe location	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0100886	HP:0100886	Abnormality of globe location	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0100886	HP:0100886	Abnormality of globe location	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0100886	HP:0100886	Abnormality of globe location	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0100886	HP:0100886	Abnormality of globe location	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0100886	HP:0100886	Abnormality of globe location	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0100886	HP:0100886	Abnormality of globe location	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0100886	HP:0100886	Abnormality of globe location	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0100886	HP:0100886	Abnormality of globe location	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0100886	HP:0100886	Abnormality of globe location	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		96
HP:0100886	HP:0100886	Abnormality of globe location	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0100886	HP:0100886	Abnormality of globe location	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0100886	HP:0100886	Abnormality of globe location	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease		39
HP:0100886	HP:0100886	Abnormality of globe location	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0100886	HP:0100886	Abnormality of globe location	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0100886	HP:0100886	Abnormality of globe location	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0100886	HP:0100886	Abnormality of globe location	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0100886	HP:0100886	Abnormality of globe location	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0100886	HP:0100886	Abnormality of globe location	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100886	HP:0100886	Abnormality of globe location	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0100886	HP:0100886	Abnormality of globe location	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0100886	HP:0100886	Abnormality of globe location	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0100886	HP:0100886	Abnormality of globe location	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0100886	HP:0100886	Abnormality of globe location	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0100886	HP:0100886	Abnormality of globe location	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0100886	HP:0100886	Abnormality of globe location	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome		40
HP:0100886	HP:0100886	Abnormality of globe location	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0100886	HP:0100886	Abnormality of globe location	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		20
HP:0100886	HP:0100886	Abnormality of globe location	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0100886	HP:0100886	Abnormality of globe location	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0100886	HP:0100886	Abnormality of globe location	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7		55
HP:0100886	HP:0100886	Abnormality of globe location	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0100886	HP:0100886	Abnormality of globe location	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations		90
HP:0100886	HP:0100886	Abnormality of globe location	0	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot		90
HP:0100886	HP:0100886	Abnormality of globe location	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot		90
HP:0100886	HP:0100886	Abnormality of globe location	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations		3
HP:0100886	HP:0100886	Abnormality of globe location	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot		3
HP:0100886	HP:0100886	Abnormality of globe location	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0100886	HP:0100886	Abnormality of globe location	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0100886	HP:0100886	Abnormality of globe location	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0100886	HP:0100886	Abnormality of globe location	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0100886	HP:0100886	Abnormality of globe location	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0100886	HP:0100886	Abnormality of globe location	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0100886	HP:0100886	Abnormality of globe location	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0100886	HP:0100886	Abnormality of globe location	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0100886	HP:0100886	Abnormality of globe location	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0100886	HP:0100886	Abnormality of globe location	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0100886	HP:0100886	Abnormality of globe location	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0100886	HP:0100886	Abnormality of globe location	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0100886	HP:0100886	Abnormality of globe location	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0100886	HP:0100886	Abnormality of globe location	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital		102
HP:0100886	HP:0100886	Abnormality of globe location	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0100886	HP:0100886	Abnormality of globe location	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0100886	HP:0100886	Abnormality of globe location	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0100886	HP:0100886	Abnormality of globe location	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0100886	HP:0100886	Abnormality of globe location	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0100886	HP:0100886	Abnormality of globe location	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0100886	HP:0100886	Abnormality of globe location	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100886	HP:0100886	Abnormality of globe location	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0100886	HP:0100886	Abnormality of globe location	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0100886	HP:0100886	Abnormality of globe location	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0100886	HP:0100886	Abnormality of globe location	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0100886	HP:0100886	Abnormality of globe location	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0100886	HP:0100886	Abnormality of globe location	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0100886	HP:0100886	Abnormality of globe location	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0100886	HP:0100886	Abnormality of globe location	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		97
HP:0100886	HP:0100886	Abnormality of globe location	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0100886	HP:0100886	Abnormality of globe location	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0100886	HP:0100886	Abnormality of globe location	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0100886	HP:0100886	Abnormality of globe location	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0100886	HP:0100886	Abnormality of globe location	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0100886	HP:0100886	Abnormality of globe location	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0100886	HP:0100886	Abnormality of globe location	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0100886	HP:0100886	Abnormality of globe location	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0100886	HP:0100886	Abnormality of globe location	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0100886	HP:0100886	Abnormality of globe location	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0100886	HP:0100886	Abnormality of globe location	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0100886	HP:0100886	Abnormality of globe location	0	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome		19
HP:0100886	HP:0100886	Abnormality of globe location	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0100886	HP:0100886	Abnormality of globe location	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0100886	HP:0100886	Abnormality of globe location	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0100886	HP:0100886	Abnormality of globe location	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0100886	HP:0100886	Abnormality of globe location	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0100886	HP:0100886	Abnormality of globe location	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0100886	HP:0100886	Abnormality of globe location	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0100886	HP:0100886	Abnormality of globe location	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0100886	HP:0100886	Abnormality of globe location	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0100886	HP:0100886	Abnormality of globe location	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0100886	HP:0100886	Abnormality of globe location	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0100886	HP:0100886	Abnormality of globe location	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0100886	HP:0100886	Abnormality of globe location	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0100886	HP:0100886	Abnormality of globe location	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0100886	HP:0100886	Abnormality of globe location	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0100886	HP:0100886	Abnormality of globe location	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0100886	HP:0100886	Abnormality of globe location	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0100886	HP:0100886	Abnormality of globe location	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome		59
HP:0100886	HP:0100886	Abnormality of globe location	0	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome		59
HP:0100886	HP:0100886	Abnormality of globe location	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0100886	HP:0100886	Abnormality of globe location	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3		6
HP:0100886	HP:0100886	Abnormality of globe location	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0100886	HP:0100886	Abnormality of globe location	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis		113
HP:0100886	HP:0100886	Abnormality of globe location	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0100886	HP:0100886	Abnormality of globe location	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0100886	HP:0100886	Abnormality of globe location	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0100886	HP:0100886	Abnormality of globe location	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome		28
HP:0100886	HP:0100886	Abnormality of globe location	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type		28
HP:0100886	HP:0100886	Abnormality of globe location	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0100886	HP:0100886	Abnormality of globe location	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0100886	HP:0100886	Abnormality of globe location	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0100886	HP:0100886	Abnormality of globe location	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0100886	HP:0100886	Abnormality of globe location	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0100886	HP:0100886	Abnormality of globe location	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0100886	HP:0100886	Abnormality of globe location	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)		47
HP:0100886	HP:0100886	Abnormality of globe location	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0100886	HP:0100886	Abnormality of globe location	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)		98
HP:0100886	HP:0100886	Abnormality of globe location	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B		98
HP:0100886	HP:0100886	Abnormality of globe location	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0100886	HP:0100886	Abnormality of globe location	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0100886	HP:0100886	Abnormality of globe location	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4		20
HP:0100886	HP:0100886	Abnormality of globe location	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0100886	HP:0100886	Abnormality of globe location	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0100886	HP:0100886	Abnormality of globe location	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0100886	HP:0100886	Abnormality of globe location	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0100886	HP:0100886	Abnormality of globe location	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0100886	HP:0100886	Abnormality of globe location	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features		11
HP:0100886	HP:0100886	Abnormality of globe location	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0100886	HP:0100886	Abnormality of globe location	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0100886	HP:0100886	Abnormality of globe location	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0100886	HP:0100886	Abnormality of globe location	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0100886	HP:0100886	Abnormality of globe location	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0100886	HP:0100886	Abnormality of globe location	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0100886	HP:0100886	Abnormality of globe location	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0100886	HP:0100886	Abnormality of globe location	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0100886	HP:0100886	Abnormality of globe location	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0100886	HP:0100886	Abnormality of globe location	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0100886	HP:0100886	Abnormality of globe location	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0100886	HP:0100886	Abnormality of globe location	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0100886	HP:0100886	Abnormality of globe location	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome		12
HP:0100886	HP:0100886	Abnormality of globe location	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0100886	HP:0100886	Abnormality of globe location	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0100886	HP:0100886	Abnormality of globe location	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0100886	HP:0100886	Abnormality of globe location	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0100886	HP:0100886	Abnormality of globe location	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0100886	HP:0100886	Abnormality of globe location	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0100886	HP:0100886	Abnormality of globe location	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0100886	HP:0100886	Abnormality of globe location	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0100886	HP:0100886	Abnormality of globe location	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2		11
HP:0100886	HP:0100886	Abnormality of globe location	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0100886	HP:0100886	Abnormality of globe location	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0100886	HP:0100886	Abnormality of globe location	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0100886	HP:0100886	Abnormality of globe location	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0100886	HP:0100886	Abnormality of globe location	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0100886	HP:0100886	Abnormality of globe location	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0100886	HP:0100886	Abnormality of globe location	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		731
HP:0100886	HP:0100886	Abnormality of globe location	0	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome		8
HP:0100886	HP:0100886	Abnormality of globe location	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0100886	HP:0100886	Abnormality of globe location	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0100886	HP:0100886	Abnormality of globe location	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0100886	HP:0100886	Abnormality of globe location	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0100886	HP:0100886	Abnormality of globe location	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0100886	HP:0100886	Abnormality of globe location	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0100886	HP:0100886	Abnormality of globe location	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0100886	HP:0100886	Abnormality of globe location	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0100886	HP:0100886	Abnormality of globe location	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0100886	HP:0100886	Abnormality of globe location	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0100886	HP:0100886	Abnormality of globe location	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0100886	HP:0100886	Abnormality of globe location	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0100886	HP:0100886	Abnormality of globe location	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0100886	HP:0100886	Abnormality of globe location	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0100886	HP:0100886	Abnormality of globe location	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0100886	HP:0100886	Abnormality of globe location	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0100886	HP:0100886	Abnormality of globe location	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis		134
HP:0100886	HP:0100886	Abnormality of globe location	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0100886	HP:0100886	Abnormality of globe location	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0100886	HP:0100886	Abnormality of globe location	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0100886	HP:0100886	Abnormality of globe location	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0100886	HP:0100886	Abnormality of globe location	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures		6
HP:0100886	HP:0100886	Abnormality of globe location	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0100886	HP:0100886	Abnormality of globe location	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0100886	HP:0100886	Abnormality of globe location	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0100886	HP:0100886	Abnormality of globe location	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0100886	HP:0100886	Abnormality of globe location	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0100886	HP:0100886	Abnormality of globe location	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0100886	HP:0100886	Abnormality of globe location	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0100886	HP:0100886	Abnormality of globe location	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0100886	HP:0100886	Abnormality of globe location	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		8
HP:0100886	HP:0100886	Abnormality of globe location	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0100886	HP:0100886	Abnormality of globe location	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0100886	HP:0100886	Abnormality of globe location	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0100886	HP:0100886	Abnormality of globe location	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0100886	HP:0100886	Abnormality of globe location	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0100886	HP:0100886	Abnormality of globe location	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome		665
HP:0100886	HP:0100886	Abnormality of globe location	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0100886	HP:0100886	Abnormality of globe location	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0100886	HP:0100886	Abnormality of globe location	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0100886	HP:0100886	Abnormality of globe location	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0100886	HP:0100886	Abnormality of globe location	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0100886	HP:0100886	Abnormality of globe location	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0100886	HP:0100886	Abnormality of globe location	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome		40
HP:0100886	HP:0100886	Abnormality of globe location	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0100886	HP:0100886	Abnormality of globe location	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0100886	HP:0100886	Abnormality of globe location	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0100886	HP:0100886	Abnormality of globe location	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0100886	HP:0100886	Abnormality of globe location	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia		58
HP:0100886	HP:0100886	Abnormality of globe location	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0100886	HP:0100886	Abnormality of globe location	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0100886	HP:0100886	Abnormality of globe location	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0100886	HP:0100886	Abnormality of globe location	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0100886	HP:0100886	Abnormality of globe location	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0100886	HP:0100886	Abnormality of globe location	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0100886	HP:0100886	Abnormality of globe location	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0100886	HP:0100886	Abnormality of globe location	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0100886	HP:0100886	Abnormality of globe location	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		6
HP:0100886	HP:0100886	Abnormality of globe location	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0100886	HP:0100886	Abnormality of globe location	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0100886	HP:0100886	Abnormality of globe location	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0100886	HP:0100886	Abnormality of globe location	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0100886	HP:0100886	Abnormality of globe location	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0100886	HP:0100886	Abnormality of globe location	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0100886	HP:0100886	Abnormality of globe location	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0100886	HP:0100886	Abnormality of globe location	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0100886	HP:0100886	Abnormality of globe location	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0100886	HP:0100886	Abnormality of globe location	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0100886	HP:0100886	Abnormality of globe location	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0100886	HP:0100886	Abnormality of globe location	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0100886	HP:0100886	Abnormality of globe location	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0100886	HP:0100886	Abnormality of globe location	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0100886	HP:0100886	Abnormality of globe location	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0100886	HP:0100886	Abnormality of globe location	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0100886	HP:0100886	Abnormality of globe location	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0100886	HP:0100886	Abnormality of globe location	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0100886	HP:0100886	Abnormality of globe location	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0100886	HP:0100886	Abnormality of globe location	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0100886	HP:0100886	Abnormality of globe location	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0100886	HP:0100886	Abnormality of globe location	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0100886	HP:0100886	Abnormality of globe location	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0100886	HP:0100886	Abnormality of globe location	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0100886	HP:0100886	Abnormality of globe location	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0100886	HP:0100886	Abnormality of globe location	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0100886	HP:0100886	Abnormality of globe location	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0100886	HP:0100886	Abnormality of globe location	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14		365
HP:0100886	HP:0100886	Abnormality of globe location	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0100886	HP:0100886	Abnormality of globe location	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0100886	HP:0100886	Abnormality of globe location	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0100886	HP:0100886	Abnormality of globe location	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome		445
HP:0100886	HP:0100886	Abnormality of globe location	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0100886	HP:0100886	Abnormality of globe location	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0100886	HP:0100886	Abnormality of globe location	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		334
HP:0100886	HP:0100886	Abnormality of globe location	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0100886	HP:0100886	Abnormality of globe location	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0100886	HP:0100886	Abnormality of globe location	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral		572
HP:0100886	HP:0100886	Abnormality of globe location	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0100886	HP:0100886	Abnormality of globe location	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0100886	HP:0100886	Abnormality of globe location	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0100886	HP:0100886	Abnormality of globe location	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0100886	HP:0100886	Abnormality of globe location	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0100886	HP:0100886	Abnormality of globe location	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0100886	HP:0100886	Abnormality of globe location	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0100886	HP:0100886	Abnormality of globe location	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0100886	HP:0100886	Abnormality of globe location	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0100886	HP:0100886	Abnormality of globe location	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0100886	HP:0100886	Abnormality of globe location	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0100886	HP:0100886	Abnormality of globe location	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0100886	HP:0100886	Abnormality of globe location	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0100886	HP:0100886	Abnormality of globe location	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0100886	HP:0100886	Abnormality of globe location	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0100886	HP:0100886	Abnormality of globe location	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers		65
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100886	HP:0100886	Abnormality of globe location	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0100886	HP:0100886	Abnormality of globe location	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0100886	HP:0100886	Abnormality of globe location	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0100886	HP:0100886	Abnormality of globe location	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0100886	HP:0100886	Abnormality of globe location	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0100886	HP:0100886	Abnormality of globe location	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0100886	HP:0100886	Abnormality of globe location	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0100886	HP:0100886	Abnormality of globe location	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0100886	HP:0100886	Abnormality of globe location	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0100886	HP:0100886	Abnormality of globe location	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy		1200
HP:0100886	HP:0100886	Abnormality of globe location	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0100886	HP:0100886	Abnormality of globe location	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0100886	HP:0100886	Abnormality of globe location	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0100886	HP:0100886	Abnormality of globe location	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0100886	HP:0100886	Abnormality of globe location	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0100886	HP:0100886	Abnormality of globe location	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional	34
HP:0100886	HP:0100886	Abnormality of globe location	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0100886	HP:0100886	Abnormality of globe location	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0100886	HP:0100886	Abnormality of globe location	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0100886	HP:0100886	Abnormality of globe location	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0100886	HP:0100886	Abnormality of globe location	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia		2
HP:0100886	HP:0100886	Abnormality of globe location	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2		5
HP:0100886	HP:0100886	Abnormality of globe location	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0100886	HP:0100886	Abnormality of globe location	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0100886	HP:0100886	Abnormality of globe location	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0100886	HP:0100886	Abnormality of globe location	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0100886	HP:0100886	Abnormality of globe location	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0100886	HP:0100886	Abnormality of globe location	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0100886	HP:0100886	Abnormality of globe location	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0100886	HP:0100886	Abnormality of globe location	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0100886	HP:0100886	Abnormality of globe location	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0100886	HP:0100886	Abnormality of globe location	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0100886	HP:0100886	Abnormality of globe location	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism		177
HP:0100886	HP:0100886	Abnormality of globe location	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0100886	HP:0100886	Abnormality of globe location	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0100886	HP:0100886	Abnormality of globe location	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0100886	HP:0100886	Abnormality of globe location	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0100886	HP:0100886	Abnormality of globe location	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0100886	HP:0100886	Abnormality of globe location	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0100886	HP:0100886	Abnormality of globe location	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0100886	HP:0100886	Abnormality of globe location	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0100886	HP:0100886	Abnormality of globe location	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0100886	HP:0100886	Abnormality of globe location	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0100886	HP:0100886	Abnormality of globe location	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0100886	HP:0100886	Abnormality of globe location	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0100886	HP:0100886	Abnormality of globe location	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0100886	HP:0100886	Abnormality of globe location	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0100886	HP:0100886	Abnormality of globe location	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0100886	HP:0100886	Abnormality of globe location	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0100886	HP:0100886	Abnormality of globe location	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0100886	HP:0100886	Abnormality of globe location	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0100886	HP:0100886	Abnormality of globe location	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia		2
HP:0100886	HP:0100886	Abnormality of globe location	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0100886	HP:0100886	Abnormality of globe location	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100886	HP:0100886	Abnormality of globe location	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0100886	HP:0100886	Abnormality of globe location	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0100886	HP:0100886	Abnormality of globe location	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0100886	HP:0100886	Abnormality of globe location	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0100886	HP:0100886	Abnormality of globe location	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0100886	HP:0100886	Abnormality of globe location	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0100886	HP:0100886	Abnormality of globe location	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0100886	HP:0100886	Abnormality of globe location	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0100886	HP:0100886	Abnormality of globe location	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0100886	HP:0100886	Abnormality of globe location	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0100886	HP:0100886	Abnormality of globe location	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis		68
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features		2
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome		93
HP:0100886	HP:0100886	Abnormality of globe location	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0100886	HP:0100886	Abnormality of globe location	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0100886	HP:0100886	Abnormality of globe location	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0100886	HP:0100886	Abnormality of globe location	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0100886	HP:0100886	Abnormality of globe location	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0100886	HP:0100886	Abnormality of globe location	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100886	HP:0100886	Abnormality of globe location	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0100886	HP:0100886	Abnormality of globe location	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0100886	HP:0100886	Abnormality of globe location	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0100886	HP:0100886	Abnormality of globe location	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0100886	HP:0100886	Abnormality of globe location	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0100886	HP:0100886	Abnormality of globe location	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0100886	HP:0100886	Abnormality of globe location	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0100886	HP:0100886	Abnormality of globe location	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0100886	HP:0100886	Abnormality of globe location	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0100886	HP:0100886	Abnormality of globe location	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome		22
HP:0100886	HP:0100886	Abnormality of globe location	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0100886	HP:0100886	Abnormality of globe location	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0100886	HP:0100886	Abnormality of globe location	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0100886	HP:0100886	Abnormality of globe location	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0100886	HP:0100886	Abnormality of globe location	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome		94
HP:0100886	HP:0100886	Abnormality of globe location	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0100886	HP:0100886	Abnormality of globe location	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0100886	HP:0100886	Abnormality of globe location	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0100886	HP:0100886	Abnormality of globe location	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0100886	HP:0100886	Abnormality of globe location	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0100886	HP:0100886	Abnormality of globe location	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0100886	HP:0100886	Abnormality of globe location	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0100886	HP:0100886	Abnormality of globe location	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0100886	HP:0100886	Abnormality of globe location	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0100886	HP:0100886	Abnormality of globe location	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0100886	HP:0100886	Abnormality of globe location	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0100886	HP:0100886	Abnormality of globe location	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0100886	HP:0100886	Abnormality of globe location	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0100886	HP:0100886	Abnormality of globe location	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0100886	HP:0100886	Abnormality of globe location	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0100886	HP:0100886	Abnormality of globe location	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0100886	HP:0100886	Abnormality of globe location	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0100886	HP:0100886	Abnormality of globe location	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0100886	HP:0100886	Abnormality of globe location	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0100886	HP:0100886	Abnormality of globe location	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0100886	HP:0100886	Abnormality of globe location	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100886	HP:0100886	Abnormality of globe location	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0100886	HP:0100886	Abnormality of globe location	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0100886	HP:0100886	Abnormality of globe location	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0100886	HP:0100886	Abnormality of globe location	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100886	HP:0100886	Abnormality of globe location	0	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0100886	HP:0100886	Abnormality of globe location	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0100886	HP:0100886	Abnormality of globe location	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0100886	HP:0100886	Abnormality of globe location	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0100886	HP:0100886	Abnormality of globe location	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0100886	HP:0100886	Abnormality of globe location	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG		12
HP:0100886	HP:0100886	Abnormality of globe location	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0100886	HP:0100886	Abnormality of globe location	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0100886	HP:0100886	Abnormality of globe location	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0100886	HP:0100886	Abnormality of globe location	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0100886	HP:0100886	Abnormality of globe location	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0100886	HP:0100886	Abnormality of globe location	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0100886	HP:0100886	Abnormality of globe location	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0100886	HP:0100886	Abnormality of globe location	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0100886	HP:0100886	Abnormality of globe location	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0100886	HP:0100886	Abnormality of globe location	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0100886	HP:0100886	Abnormality of globe location	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0100886	HP:0100886	Abnormality of globe location	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0100886	HP:0100886	Abnormality of globe location	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0100886	HP:0100886	Abnormality of globe location	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome		31
HP:0100886	HP:0100886	Abnormality of globe location	0	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome		31
HP:0100886	HP:0100886	Abnormality of globe location	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0100886	HP:0100886	Abnormality of globe location	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0100886	HP:0100886	Abnormality of globe location	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome		124
HP:0100886	HP:0100886	Abnormality of globe location	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32		124
HP:0100886	HP:0100886	Abnormality of globe location	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0100886	HP:0100886	Abnormality of globe location	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0100886	HP:0100886	Abnormality of globe location	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0100886	HP:0100886	Abnormality of globe location	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0100886	HP:0100886	Abnormality of globe location	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0100886	HP:0100886	Abnormality of globe location	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0100886	HP:0100886	Abnormality of globe location	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0100886	HP:0100886	Abnormality of globe location	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0100886	HP:0100886	Abnormality of globe location	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0100886	HP:0100886	Abnormality of globe location	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		21
HP:0100886	HP:0100886	Abnormality of globe location	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0100886	HP:0100886	Abnormality of globe location	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0100886	HP:0100886	Abnormality of globe location	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0100886	HP:0100886	Abnormality of globe location	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0100886	HP:0100886	Abnormality of globe location	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0100886	HP:0100886	Abnormality of globe location	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0100886	HP:0100886	Abnormality of globe location	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0100886	HP:0100886	Abnormality of globe location	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy		271
HP:0100886	HP:0100886	Abnormality of globe location	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0100886	HP:0100886	Abnormality of globe location	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0100886	HP:0100886	Abnormality of globe location	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome		52
HP:0100886	HP:0100886	Abnormality of globe location	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0100886	HP:0100886	Abnormality of globe location	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1		52
HP:0100886	HP:0100886	Abnormality of globe location	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0100886	HP:0100886	Abnormality of globe location	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0100886	HP:0100886	Abnormality of globe location	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0100886	HP:0100886	Abnormality of globe location	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0100886	HP:0100886	Abnormality of globe location	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0100886	HP:0100886	Abnormality of globe location	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0100886	HP:0100886	Abnormality of globe location	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0100886	HP:0100886	Abnormality of globe location	0	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly		28
HP:0100886	HP:0100886	Abnormality of globe location	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0100886	HP:0100886	Abnormality of globe location	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0100886	HP:0100886	Abnormality of globe location	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0100886	HP:0100886	Abnormality of globe location	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0100886	HP:0100886	Abnormality of globe location	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis		82
HP:0100886	HP:0100886	Abnormality of globe location	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0100886	HP:0100886	Abnormality of globe location	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0100886	HP:0100886	Abnormality of globe location	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0100886	HP:0100886	Abnormality of globe location	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0100886	HP:0100886	Abnormality of globe location	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV		31
HP:0100886	HP:0100886	Abnormality of globe location	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100886	HP:0100886	Abnormality of globe location	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0100886	HP:0100886	Abnormality of globe location	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0100886	HP:0100886	Abnormality of globe location	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9		12
HP:0100886	HP:0100886	Abnormality of globe location	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0100886	HP:0100886	Abnormality of globe location	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0100886	HP:0100886	Abnormality of globe location	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0100886	HP:0100886	Abnormality of globe location	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome		104
HP:0100886	HP:0100886	Abnormality of globe location	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0100886	HP:0100886	Abnormality of globe location	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0100886	HP:0100886	Abnormality of globe location	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0100886	HP:0100886	Abnormality of globe location	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0100886	HP:0100886	Abnormality of globe location	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0100886	HP:0100886	Abnormality of globe location	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0100886	HP:0100886	Abnormality of globe location	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0100886	HP:0100886	Abnormality of globe location	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0100886	HP:0100886	Abnormality of globe location	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0100886	HP:0100886	Abnormality of globe location	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0100886	HP:0100886	Abnormality of globe location	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0100886	HP:0100886	Abnormality of globe location	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome		166
HP:0100886	HP:0100886	Abnormality of globe location	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis		72
HP:0100886	HP:0100886	Abnormality of globe location	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0100886	HP:0100886	Abnormality of globe location	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0100886	HP:0100886	Abnormality of globe location	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0100886	HP:0100886	Abnormality of globe location	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0100886	HP:0100886	Abnormality of globe location	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0100886	HP:0100886	Abnormality of globe location	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0100886	HP:0100886	Abnormality of globe location	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0100886	HP:0100886	Abnormality of globe location	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0100886	HP:0100886	Abnormality of globe location	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0100886	HP:0100886	Abnormality of globe location	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0100886	HP:0100886	Abnormality of globe location	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome		158
HP:0100886	HP:0100886	Abnormality of globe location	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0100886	HP:0100886	Abnormality of globe location	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0100886	HP:0100886	Abnormality of globe location	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0100886	HP:0100886	Abnormality of globe location	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0100886	HP:0100886	Abnormality of globe location	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0100886	HP:0100886	Abnormality of globe location	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0100886	HP:0100886	Abnormality of globe location	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0100886	HP:0100886	Abnormality of globe location	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0100886	HP:0100886	Abnormality of globe location	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism		97
HP:0100886	HP:0100886	Abnormality of globe location	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor		97
HP:0100886	HP:0100886	Abnormality of globe location	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100886	HP:0100886	Abnormality of globe location	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0100886	HP:0100886	Abnormality of globe location	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0100886	HP:0100886	Abnormality of globe location	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0100886	HP:0100886	Abnormality of globe location	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0100886	HP:0100886	Abnormality of globe location	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0100886	HP:0100886	Abnormality of globe location	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0100886	HP:0100886	Abnormality of globe location	0	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly		18
HP:0100886	HP:0100886	Abnormality of globe location	0	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome		18
HP:0100886	HP:0100886	Abnormality of globe location	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0100886	HP:0100886	Abnormality of globe location	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0100886	HP:0100886	Abnormality of globe location	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0100886	HP:0100886	Abnormality of globe location	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0100886	HP:0100886	Abnormality of globe location	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0100886	HP:0100886	Abnormality of globe location	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0100886	HP:0100886	Abnormality of globe location	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0100886	HP:0100886	Abnormality of globe location	0	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome		19
HP:0100886	HP:0100886	Abnormality of globe location	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0100886	HP:0100886	Abnormality of globe location	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0100886	HP:0100886	Abnormality of globe location	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0100886	HP:0100886	Abnormality of globe location	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0100886	HP:0100886	Abnormality of globe location	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0100886	HP:0100886	Abnormality of globe location	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0100886	HP:0100886	Abnormality of globe location	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0100886	HP:0100886	Abnormality of globe location	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0100886	HP:0100886	Abnormality of globe location	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0100886	HP:0100886	Abnormality of globe location	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0100886	HP:0100886	Abnormality of globe location	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0100886	HP:0100886	Abnormality of globe location	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly		2
HP:0100886	HP:0100886	Abnormality of globe location	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0100886	HP:0100886	Abnormality of globe location	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0100886	HP:0100886	Abnormality of globe location	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0100886	HP:0100886	Abnormality of globe location	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0100886	HP:0100886	Abnormality of globe location	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion		20
HP:0100886	HP:0100886	Abnormality of globe location	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0100886	HP:0100886	Abnormality of globe location	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0100886	HP:0100886	Abnormality of globe location	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0100886	HP:0100886	Abnormality of globe location	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0100886	HP:0100886	Abnormality of globe location	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0100886	HP:0100886	Abnormality of globe location	0	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly		60
HP:0100886	HP:0100886	Abnormality of globe location	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0100886	HP:0100886	Abnormality of globe location	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0100886	HP:0100886	Abnormality of globe location	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0100886	HP:0100886	Abnormality of globe location	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0100886	HP:0100886	Abnormality of globe location	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0100886	HP:0100886	Abnormality of globe location	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0100886	HP:0100886	Abnormality of globe location	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0100886	HP:0100886	Abnormality of globe location	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome		14
HP:0100886	HP:0100886	Abnormality of globe location	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0100886	HP:0100886	Abnormality of globe location	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0100886	HP:0100886	Abnormality of globe location	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0100886	HP:0100886	Abnormality of globe location	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0100886	HP:0100886	Abnormality of globe location	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0100886	HP:0100886	Abnormality of globe location	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0100886	HP:0100886	Abnormality of globe location	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0100886	HP:0100886	Abnormality of globe location	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0100886	HP:0100886	Abnormality of globe location	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG		14
HP:0100886	HP:0100886	Abnormality of globe location	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0100886	HP:0100886	Abnormality of globe location	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0100886	HP:0100886	Abnormality of globe location	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0100886	HP:0100886	Abnormality of globe location	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q		16
HP:0100886	HP:0100886	Abnormality of globe location	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0100886	HP:0100886	Abnormality of globe location	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0100886	HP:0100886	Abnormality of globe location	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0100886	HP:0100886	Abnormality of globe location	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0100886	HP:0100886	Abnormality of globe location	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0100886	HP:0100886	Abnormality of globe location	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0100886	HP:0100886	Abnormality of globe location	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0100886	HP:0100886	Abnormality of globe location	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0100886	HP:0100886	Abnormality of globe location	0	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot		31
HP:0100886	HP:0100886	Abnormality of globe location	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot		31
HP:0100886	HP:0100886	Abnormality of globe location	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0100886	HP:0100886	Abnormality of globe location	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0100886	HP:0100886	Abnormality of globe location	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0100886	HP:0100886	Abnormality of globe location	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0100886	HP:0100886	Abnormality of globe location	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0100886	HP:0100886	Abnormality of globe location	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0100886	HP:0100886	Abnormality of globe location	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0100886	HP:0100886	Abnormality of globe location	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0100886	HP:0100886	Abnormality of globe location	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0100886	HP:0100886	Abnormality of globe location	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0100886	HP:0100886	Abnormality of globe location	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0100886	HP:0100886	Abnormality of globe location	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0100886	HP:0100886	Abnormality of globe location	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0100886	HP:0100886	Abnormality of globe location	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0100886	HP:0100886	Abnormality of globe location	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0100886	HP:0100886	Abnormality of globe location	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0100886	HP:0100886	Abnormality of globe location	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0100886	HP:0100886	Abnormality of globe location	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100886	HP:0100886	Abnormality of globe location	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0100886	HP:0100886	Abnormality of globe location	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0100886	HP:0100886	Abnormality of globe location	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0100886	HP:0030867	Vertical orbital dystopia	1	CL E G H
HP:0100886	HP:0000601	Hypotelorism	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0100886	HP:0000601	Hypotelorism	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0100886	HP:0000520	Proptosis	1	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B	.	130
HP:0100886	HP:0000601	Hypotelorism	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0100886	HP:0000316	Hypertelorism	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0100886	HP:0000490	Deeply set eye	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0100886	HP:0000601	Hypotelorism	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0100886	HP:0000316	Hypertelorism	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0100886	HP:0000316	Hypertelorism	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent	120
HP:0100886	HP:0000316	Hypertelorism	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0100886	HP:0000316	Hypertelorism	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	96
HP:0100886	HP:0000316	Hypertelorism	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0100886	HP:0000316	Hypertelorism	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0100886	HP:0000316	Hypertelorism	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0100886	HP:0000316	Hypertelorism	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent	72
HP:0100886	HP:0000316	Hypertelorism	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0100886	HP:0000316	Hypertelorism	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0100886	HP:0000316	Hypertelorism	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0100886	HP:0000316	Hypertelorism	1	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.	13
HP:0100886	HP:0000316	Hypertelorism	1	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040284 - Very rare	13
HP:0100886	HP:0000316	Hypertelorism	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0100886	HP:0000520	Proptosis	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0100886	HP:0000316	Hypertelorism	1	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.	1
HP:0100886	HP:0000316	Hypertelorism	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0100886	HP:0000316	Hypertelorism	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0100886	HP:0000316	Hypertelorism	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0100886	HP:0000316	Hypertelorism	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0100886	HP:0000316	Hypertelorism	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0100886	HP:0000520	Proptosis	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0100886	HP:0000316	Hypertelorism	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0100886	HP:0000520	Proptosis	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0100886	HP:0000316	Hypertelorism	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0100886	HP:0000490	Deeply set eye	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0100886	HP:0000490	Deeply set eye	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0100886	HP:0000490	Deeply set eye	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0100886	HP:0000316	Hypertelorism	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0100886	HP:0000316	Hypertelorism	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0100886	HP:0000316	Hypertelorism	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0100886	HP:0000520	Proptosis	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0100886	HP:0000520	Proptosis	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0100886	HP:0000316	Hypertelorism	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0100886	HP:0000316	Hypertelorism	1	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent	19
HP:0100886	HP:0000601	Hypotelorism	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0100886	HP:0000316	Hypertelorism	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0100886	HP:0000316	Hypertelorism	1	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0100886	HP:0000316	Hypertelorism	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.	58
HP:0100886	HP:0000316	Hypertelorism	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional	96
HP:0100886	HP:0000316	Hypertelorism	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0100886	HP:0000316	Hypertelorism	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0100886	HP:0000316	Hypertelorism	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0100886	HP:0000316	Hypertelorism	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0100886	HP:0000316	Hypertelorism	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0100886	HP:0000520	Proptosis	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0100886	HP:0000316	Hypertelorism	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0100886	HP:0000316	Hypertelorism	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0100886	HP:0000520	Proptosis	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0100886	HP:0000490	Deeply set eye	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0100886	HP:0000490	Deeply set eye	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0100886	HP:0000520	Proptosis	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.	126
HP:0100886	HP:0000316	Hypertelorism	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0100886	HP:0000316	Hypertelorism	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0100886	HP:0000316	Hypertelorism	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0100886	HP:0000316	Hypertelorism	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0100886	HP:0000316	Hypertelorism	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0100886	HP:0000316	Hypertelorism	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0100886	HP:0000316	Hypertelorism	1	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	HP:0040283 - Occasional	132
HP:0100886	HP:0000316	Hypertelorism	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0100886	HP:0000316	Hypertelorism	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0100886	HP:0000316	Hypertelorism	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0100886	HP:0000316	Hypertelorism	1	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040281 - Very frequent	164
HP:0100886	HP:0000316	Hypertelorism	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0100886	HP:0000316	Hypertelorism	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0100886	HP:0000316	Hypertelorism	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0100886	HP:0000490	Deeply set eye	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0100886	HP:0000316	Hypertelorism	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0100886	HP:0000316	Hypertelorism	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0100886	HP:0000316	Hypertelorism	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0100886	HP:0000490	Deeply set eye	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0100886	HP:0000520	Proptosis	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0100886	HP:0000601	Hypotelorism	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0100886	HP:0000316	Hypertelorism	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0100886	HP:0000520	Proptosis	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0100886	HP:0000316	Hypertelorism	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	3179
HP:0100886	HP:0000316	Hypertelorism	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0100886	HP:0000601	Hypotelorism	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0100886	HP:0000316	Hypertelorism	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent	219
HP:0100886	HP:0000316	Hypertelorism	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0100886	HP:0000601	Hypotelorism	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0100886	HP:0000490	Deeply set eye	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0100886	HP:0000316	Hypertelorism	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0100886	HP:0000316	Hypertelorism	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0100886	HP:0000490	Deeply set eye	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0100886	HP:0000520	Proptosis	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0100886	HP:0000316	Hypertelorism	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0100886	HP:0000520	Proptosis	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0100886	HP:0000316	Hypertelorism	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0100886	HP:0000520	Proptosis	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0100886	HP:0000316	Hypertelorism	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0100886	HP:0000520	Proptosis	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0100886	HP:0000316	Hypertelorism	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0100886	HP:0000490	Deeply set eye	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0100886	HP:0000316	Hypertelorism	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0100886	HP:0000490	Deeply set eye	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0100886	HP:0000490	Deeply set eye	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0100886	HP:0000490	Deeply set eye	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0100886	HP:0000601	Hypotelorism	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0100886	HP:0000316	Hypertelorism	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0100886	HP:0000316	Hypertelorism	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0100886	HP:0000316	Hypertelorism	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0100886	HP:0000316	Hypertelorism	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0100886	HP:0000316	Hypertelorism	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0100886	HP:0000316	Hypertelorism	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0100886	HP:0000316	Hypertelorism	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0100886	HP:0000316	Hypertelorism	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0100886	HP:0000316	Hypertelorism	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040281 - Very frequent	169
HP:0100886	HP:0000316	Hypertelorism	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0100886	HP:0000316	Hypertelorism	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0100886	HP:0000520	Proptosis	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0100886	HP:0000520	Proptosis	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0100886	HP:0000520	Proptosis	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0100886	HP:0000520	Proptosis	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0100886	HP:0000520	Proptosis	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0100886	HP:0000316	Hypertelorism	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0100886	HP:0000520	Proptosis	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0100886	HP:0000316	Hypertelorism	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0100886	HP:0000316	Hypertelorism	1	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.	22
HP:0100886	HP:0000520	Proptosis	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0100886	HP:0000520	Proptosis	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.	38
HP:0100886	HP:0000316	Hypertelorism	1	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent	38
HP:0100886	HP:0000520	Proptosis	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	38
HP:0100886	HP:0000520	Proptosis	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0100886	HP:0000316	Hypertelorism	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0100886	HP:0000520	Proptosis	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0100886	HP:0000316	Hypertelorism	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0100886	HP:0000316	Hypertelorism	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0100886	HP:0000316	Hypertelorism	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0100886	HP:0000520	Proptosis	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0100886	HP:0000316	Hypertelorism	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0100886	HP:0000316	Hypertelorism	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0100886	HP:0000316	Hypertelorism	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0100886	HP:0000520	Proptosis	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0100886	HP:0000490	Deeply set eye	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0100886	HP:0000520	Proptosis	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0100886	HP:0000490	Deeply set eye	1	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0100886	HP:0000316	Hypertelorism	1	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0100886	HP:0000316	Hypertelorism	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0100886	HP:0000316	Hypertelorism	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0100886	HP:0000316	Hypertelorism	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0100886	HP:0000316	Hypertelorism	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0100886	HP:0000490	Deeply set eye	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0100886	HP:0000520	Proptosis	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0100886	HP:0000316	Hypertelorism	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0100886	HP:0000316	Hypertelorism	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0100886	HP:0000601	Hypotelorism	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0100886	HP:0000490	Deeply set eye	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0100886	HP:0000316	Hypertelorism	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	4
HP:0100886	HP:0000601	Hypotelorism	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0100886	HP:0000316	Hypertelorism	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0100886	HP:0000316	Hypertelorism	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040281 - Very frequent	13
HP:0100886	HP:0000316	Hypertelorism	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0100886	HP:0000316	Hypertelorism	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0100886	HP:0000316	Hypertelorism	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare	22
HP:0100886	HP:0000520	Proptosis	1	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0100886	HP:0000490	Deeply set eye	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0100886	HP:0000316	Hypertelorism	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0100886	HP:0000520	Proptosis	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0100886	HP:0000316	Hypertelorism	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0100886	HP:0000316	Hypertelorism	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0100886	HP:0000316	Hypertelorism	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0100886	HP:0000316	Hypertelorism	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0100886	HP:0000316	Hypertelorism	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0100886	HP:0000520	Proptosis	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0100886	HP:0000316	Hypertelorism	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0100886	HP:0000316	Hypertelorism	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0100886	HP:0000520	Proptosis	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0100886	HP:0000316	Hypertelorism	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0100886	HP:0000490	Deeply set eye	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0100886	HP:0000316	Hypertelorism	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent	8
HP:0100886	HP:0000316	Hypertelorism	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0100886	HP:0000520	Proptosis	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0100886	HP:0000316	Hypertelorism	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0100886	HP:0000316	Hypertelorism	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0100886	HP:0000316	Hypertelorism	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent	13
HP:0100886	HP:0000316	Hypertelorism	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0100886	HP:0000520	Proptosis	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0100886	HP:0000316	Hypertelorism	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0100886	HP:0000490	Deeply set eye	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0100886	HP:0000601	Hypotelorism	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0100886	HP:0000490	Deeply set eye	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0100886	HP:0000316	Hypertelorism	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0100886	HP:0000490	Deeply set eye	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0100886	HP:0000520	Proptosis	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0100886	HP:0000520	Proptosis	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0100886	HP:0000490	Deeply set eye	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0100886	HP:0000601	Hypotelorism	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4		118
HP:0100886	HP:0000316	Hypertelorism	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0100886	HP:0000316	Hypertelorism	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent	118
HP:0100886	HP:0000490	Deeply set eye	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0100886	HP:0000316	Hypertelorism	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0100886	HP:0000520	Proptosis	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0100886	HP:0000316	Hypertelorism	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0100886	HP:0000316	Hypertelorism	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0100886	HP:0000316	Hypertelorism	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0100886	HP:0000316	Hypertelorism	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0100886	HP:0000316	Hypertelorism	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0100886	HP:0000316	Hypertelorism	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0100886	HP:0000601	Hypotelorism	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0100886	HP:0000316	Hypertelorism	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0100886	HP:0000316	Hypertelorism	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0100886	HP:0000316	Hypertelorism	1	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent	11
HP:0100886	HP:0000316	Hypertelorism	1	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0100886	HP:0000316	Hypertelorism	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	9
HP:0100886	HP:0000316	Hypertelorism	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	6
HP:0100886	HP:0000316	Hypertelorism	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0100886	HP:0000316	Hypertelorism	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0100886	HP:0000316	Hypertelorism	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0100886	HP:0000520	Proptosis	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0100886	HP:0000316	Hypertelorism	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	4
HP:0100886	HP:0000316	Hypertelorism	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0100886	HP:0000316	Hypertelorism	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040282 - Frequent	1003
HP:0100886	HP:0000316	Hypertelorism	1	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.	1003
HP:0100886	HP:0000316	Hypertelorism	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0100886	HP:0000520	Proptosis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0100886	HP:0000520	Proptosis	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0100886	HP:0000316	Hypertelorism	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0100886	HP:0000520	Proptosis	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0100886	HP:0000316	Hypertelorism	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0100886	HP:0000490	Deeply set eye	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0100886	HP:0000316	Hypertelorism	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0100886	HP:0000316	Hypertelorism	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.	2
HP:0100886	HP:0000316	Hypertelorism	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0100886	HP:0000316	Hypertelorism	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0100886	HP:0000601	Hypotelorism	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0100886	HP:0000520	Proptosis	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	HP:0040283 - Occasional	181
HP:0100886	HP:0000490	Deeply set eye	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0100886	HP:0000490	Deeply set eye	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0100886	HP:0000520	Proptosis	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0100886	HP:0000601	Hypotelorism	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	200
HP:0100886	HP:0009914	Cyclopia	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0100886	HP:0000601	Hypotelorism	1	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11		200
HP:0100886	HP:0000520	Proptosis	1	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11	.	200
HP:0100886	HP:0000601	Hypotelorism	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	200
HP:0100886	HP:0009914	Cyclopia	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	200
HP:0100886	HP:0000601	Hypotelorism	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	200
HP:0100886	HP:0009914	Cyclopia	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0100886	HP:0000601	Hypotelorism	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	200
HP:0100886	HP:0009914	Cyclopia	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0100886	HP:0000601	Hypotelorism	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	200
HP:0100886	HP:0009914	Cyclopia	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0100886	HP:0000316	Hypertelorism	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0100886	HP:0000490	Deeply set eye	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0100886	HP:0000316	Hypertelorism	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6		161
HP:0100886	HP:0000316	Hypertelorism	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0100886	HP:0000316	Hypertelorism	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0100886	HP:0000601	Hypotelorism	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0100886	HP:0000490	Deeply set eye	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0100886	HP:0000316	Hypertelorism	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0100886	HP:0000316	Hypertelorism	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0100886	HP:0000316	Hypertelorism	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0100886	HP:0000316	Hypertelorism	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0100886	HP:0000316	Hypertelorism	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	515
HP:0100886	HP:0000316	Hypertelorism	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0100886	HP:0000490	Deeply set eye	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	35
HP:0100886	HP:0000316	Hypertelorism	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0100886	HP:0000316	Hypertelorism	1	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome		52
HP:0100886	HP:0000316	Hypertelorism	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0100886	HP:0000316	Hypertelorism	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0100886	HP:0000316	Hypertelorism	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0100886	HP:0000316	Hypertelorism	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0100886	HP:0000316	Hypertelorism	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0100886	HP:0000316	Hypertelorism	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0100886	HP:0000316	Hypertelorism	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0100886	HP:0000520	Proptosis	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0100886	HP:0000316	Hypertelorism	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0100886	HP:0000316	Hypertelorism	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0100886	HP:0000316	Hypertelorism	1	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0100886	HP:0000490	Deeply set eye	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0100886	HP:0000601	Hypotelorism	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0100886	HP:0000316	Hypertelorism	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0100886	HP:0000520	Proptosis	1	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	5
HP:0100886	HP:0000520	Proptosis	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0100886	HP:0000316	Hypertelorism	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0100886	HP:0000601	Hypotelorism	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0100886	HP:0000316	Hypertelorism	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0100886	HP:0000316	Hypertelorism	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0100886	HP:0000520	Proptosis	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent	7
HP:0100886	HP:0000520	Proptosis	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0100886	HP:0000601	Hypotelorism	1	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0100886	HP:0000601	Hypotelorism	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0100886	HP:0000490	Deeply set eye	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0100886	HP:0000601	Hypotelorism	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0100886	HP:0000316	Hypertelorism	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0100886	HP:0000316	Hypertelorism	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0100886	HP:0000316	Hypertelorism	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0100886	HP:0000490	Deeply set eye	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0100886	HP:0000316	Hypertelorism	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional	52
HP:0100886	HP:0000316	Hypertelorism	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0100886	HP:0000520	Proptosis	1	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0100886	HP:0000520	Proptosis	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0100886	HP:0000520	Proptosis	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent	215
HP:0100886	HP:0000520	Proptosis	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	215
HP:0100886	HP:0000316	Hypertelorism	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	215
HP:0100886	HP:0000520	Proptosis	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0100886	HP:0000316	Hypertelorism	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0100886	HP:0000520	Proptosis	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0100886	HP:0000316	Hypertelorism	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0100886	HP:0000316	Hypertelorism	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	222
HP:0100886	HP:0000520	Proptosis	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	222
HP:0100886	HP:0000520	Proptosis	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0100886	HP:0000520	Proptosis	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0100886	HP:0000316	Hypertelorism	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040282 - Frequent	373
HP:0100886	HP:0000520	Proptosis	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional	373
HP:0100886	HP:0000316	Hypertelorism	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0100886	HP:0000316	Hypertelorism	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0100886	HP:0000316	Hypertelorism	1	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	.	1
HP:0100886	HP:0000520	Proptosis	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0100886	HP:0000520	Proptosis	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0100886	HP:0000316	Hypertelorism	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent	284
HP:0100886	HP:0000316	Hypertelorism	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0100886	HP:0000520	Proptosis	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0100886	HP:0000520	Proptosis	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent	284
HP:0100886	HP:0000490	Deeply set eye	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0100886	HP:0000316	Hypertelorism	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0100886	HP:0000520	Proptosis	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040282 - Frequent	749
HP:0100886	HP:0000490	Deeply set eye	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0100886	HP:0000490	Deeply set eye	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0100886	HP:0000316	Hypertelorism	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0100886	HP:0000316	Hypertelorism	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0100886	HP:0000316	Hypertelorism	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0100886	HP:0000316	Hypertelorism	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0100886	HP:0000316	Hypertelorism	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0100886	HP:0000601	Hypotelorism	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0100886	HP:0000490	Deeply set eye	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0100886	HP:0000316	Hypertelorism	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040282 - Frequent	6
HP:0100886	HP:0000490	Deeply set eye	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0100886	HP:0000316	Hypertelorism	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0100886	HP:0000316	Hypertelorism	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0100886	HP:0000316	Hypertelorism	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.	1
HP:0100886	HP:0000520	Proptosis	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	1
HP:0100886	HP:0000316	Hypertelorism	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0100886	HP:0000520	Proptosis	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0100886	HP:0000520	Proptosis	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100886	HP:0000316	Hypertelorism	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100886	HP:0000490	Deeply set eye	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.	156
HP:0100886	HP:0000490	Deeply set eye	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0100886	HP:0000490	Deeply set eye	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0100886	HP:0000520	Proptosis	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0100886	HP:0000316	Hypertelorism	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0100886	HP:0000316	Hypertelorism	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0100886	HP:0000520	Proptosis	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0100886	HP:0000490	Deeply set eye	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0100886	HP:0000490	Deeply set eye	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0100886	HP:0000520	Proptosis	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0100886	HP:0000520	Proptosis	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0100886	HP:0000316	Hypertelorism	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0100886	HP:0000316	Hypertelorism	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0100886	HP:0000490	Deeply set eye	1	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.	2
HP:0100886	HP:0000520	Proptosis	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100886	HP:0000316	Hypertelorism	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0100886	HP:0000520	Proptosis	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0100886	HP:0000316	Hypertelorism	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100886	HP:0000316	Hypertelorism	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0100886	HP:0000490	Deeply set eye	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0100886	HP:0000316	Hypertelorism	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0100886	HP:0000520	Proptosis	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0100886	HP:0000316	Hypertelorism	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040282 - Frequent
HP:0100886	HP:0000316	Hypertelorism	1	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2	.
HP:0100886	HP:0000316	Hypertelorism	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent	15
HP:0100886	HP:0000520	Proptosis	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040282 - Frequent	39
HP:0100886	HP:0000316	Hypertelorism	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0100886	HP:0000520	Proptosis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0100886	HP:0000316	Hypertelorism	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0100886	HP:0000316	Hypertelorism	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0100886	HP:0000490	Deeply set eye	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.	5
HP:0100886	HP:0000601	Hypotelorism	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100886	HP:0000316	Hypertelorism	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0100886	HP:0000520	Proptosis	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0100886	HP:0000316	Hypertelorism	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0100886	HP:0000316	Hypertelorism	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040282 - Frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.	2
HP:0100886	HP:0000316	Hypertelorism	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0100886	HP:0000316	Hypertelorism	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0100886	HP:0000490	Deeply set eye	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0100886	HP:0000316	Hypertelorism	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0100886	HP:0000316	Hypertelorism	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100886	HP:0000316	Hypertelorism	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0100886	HP:0000520	Proptosis	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0100886	HP:0000490	Deeply set eye	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0100886	HP:0000316	Hypertelorism	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0100886	HP:0000316	Hypertelorism	1	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor	.	670
HP:0100886	HP:0000490	Deeply set eye	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent	164
HP:0100886	HP:0000601	Hypotelorism	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	22
HP:0100886	HP:0009914	Cyclopia	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0100886	HP:0000601	Hypotelorism	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	22
HP:0100886	HP:0009914	Cyclopia	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	22
HP:0100886	HP:0009914	Cyclopia	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0100886	HP:0000601	Hypotelorism	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	22
HP:0100886	HP:0000601	Hypotelorism	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	22
HP:0100886	HP:0009914	Cyclopia	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0100886	HP:0009914	Cyclopia	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0100886	HP:0000601	Hypotelorism	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	22
HP:0100886	HP:0000490	Deeply set eye	1	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:0100886	HP:0009914	Cyclopia	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0100886	HP:0000601	Hypotelorism	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	3
HP:0100886	HP:0009914	Cyclopia	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	3
HP:0100886	HP:0000601	Hypotelorism	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	3
HP:0100886	HP:0000601	Hypotelorism	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	3
HP:0100886	HP:0009914	Cyclopia	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0100886	HP:0009914	Cyclopia	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0100886	HP:0000601	Hypotelorism	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	3
HP:0100886	HP:0000601	Hypotelorism	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	3
HP:0100886	HP:0009914	Cyclopia	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0100886	HP:0000316	Hypertelorism	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0100886	HP:0000316	Hypertelorism	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0100886	HP:0000490	Deeply set eye	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0100886	HP:0000316	Hypertelorism	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0100886	HP:0000316	Hypertelorism	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0100886	HP:0000316	Hypertelorism	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	79
HP:0100886	HP:0000316	Hypertelorism	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0100886	HP:0000316	Hypertelorism	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0100886	HP:0000316	Hypertelorism	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	91
HP:0100886	HP:0000316	Hypertelorism	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0100886	HP:0000316	Hypertelorism	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0100886	HP:0000316	Hypertelorism	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0100886	HP:0000490	Deeply set eye	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0100886	HP:0000316	Hypertelorism	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0100886	HP:0000316	Hypertelorism	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0100886	HP:0000601	Hypotelorism	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0100886	HP:0000601	Hypotelorism	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0100886	HP:0000490	Deeply set eye	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040282 - Frequent	144
HP:0100886	HP:0000316	Hypertelorism	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0100886	HP:0000601	Hypotelorism	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100886	HP:0000490	Deeply set eye	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100886	HP:0000316	Hypertelorism	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100886	HP:0000520	Proptosis	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100886	HP:0000316	Hypertelorism	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0100886	HP:0000316	Hypertelorism	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0100886	HP:0000316	Hypertelorism	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	4
HP:0100886	HP:0000316	Hypertelorism	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	14
HP:0100886	HP:0000520	Proptosis	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0100886	HP:0000316	Hypertelorism	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0100886	HP:0000520	Proptosis	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0100886	HP:0000316	Hypertelorism	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0100886	HP:0000520	Proptosis	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0100886	HP:0000520	Proptosis	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0100886	HP:0000316	Hypertelorism	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	5
HP:0100886	HP:0000316	Hypertelorism	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0100886	HP:0000520	Proptosis	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0100886	HP:0000520	Proptosis	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.	1
HP:0100886	HP:0000490	Deeply set eye	1	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:0100886	HP:0000490	Deeply set eye	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0100886	HP:0000601	Hypotelorism	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0100886	HP:0000490	Deeply set eye	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0100886	HP:0000490	Deeply set eye	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0100886	HP:0000316	Hypertelorism	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0100886	HP:0000316	Hypertelorism	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0100886	HP:0000316	Hypertelorism	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0100886	HP:0000316	Hypertelorism	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0100886	HP:0000490	Deeply set eye	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0100886	HP:0000316	Hypertelorism	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0100886	HP:0000316	Hypertelorism	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0100886	HP:0000490	Deeply set eye	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0100886	HP:0000316	Hypertelorism	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0100886	HP:0000520	Proptosis	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0100886	HP:0000316	Hypertelorism	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040281 - Very frequent	27
HP:0100886	HP:0000316	Hypertelorism	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0100886	HP:0000316	Hypertelorism	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0100886	HP:0000316	Hypertelorism	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0100886	HP:0000316	Hypertelorism	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0100886	HP:0000490	Deeply set eye	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0100886	HP:0000316	Hypertelorism	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0100886	HP:0000520	Proptosis	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0100886	HP:0000316	Hypertelorism	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0100886	HP:0000601	Hypotelorism	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0100886	HP:0000316	Hypertelorism	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0100886	HP:0000490	Deeply set eye	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0100886	HP:0000490	Deeply set eye	1	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:0100886	HP:0000520	Proptosis	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0100886	HP:0000490	Deeply set eye	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0100886	HP:0000316	Hypertelorism	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0100886	HP:0000316	Hypertelorism	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0100886	HP:0000316	Hypertelorism	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0100886	HP:0000490	Deeply set eye	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0100886	HP:0000601	Hypotelorism	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional	40
HP:0100886	HP:0000316	Hypertelorism	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0100886	HP:0000601	Hypotelorism	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0100886	HP:0000316	Hypertelorism	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional	40
HP:0100886	HP:0000490	Deeply set eye	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0100886	HP:0000490	Deeply set eye	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0100886	HP:0000316	Hypertelorism	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0100886	HP:0000601	Hypotelorism	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0100886	HP:0000601	Hypotelorism	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0100886	HP:0000316	Hypertelorism	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0100886	HP:0000490	Deeply set eye	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	158
HP:0100886	HP:0000520	Proptosis	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0100886	HP:0000316	Hypertelorism	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0100886	HP:0000490	Deeply set eye	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional	158
HP:0100886	HP:0000490	Deeply set eye	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0100886	HP:0000490	Deeply set eye	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0100886	HP:0000490	Deeply set eye	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	199
HP:0100886	HP:0000490	Deeply set eye	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0100886	HP:0000490	Deeply set eye	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0100886	HP:0000490	Deeply set eye	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0100886	HP:0000490	Deeply set eye	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	55
HP:0100886	HP:0000490	Deeply set eye	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0100886	HP:0000316	Hypertelorism	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome	.	12
HP:0100886	HP:0000520	Proptosis	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome	.	12
HP:0100886	HP:0000520	Proptosis	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0100886	HP:0000316	Hypertelorism	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	.	12
HP:0100886	HP:0000316	Hypertelorism	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0100886	HP:0000520	Proptosis	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0100886	HP:0000316	Hypertelorism	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0100886	HP:0000316	Hypertelorism	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.	92
HP:0100886	HP:0000316	Hypertelorism	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent	92
HP:0100886	HP:0000520	Proptosis	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0100886	HP:0000316	Hypertelorism	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0100886	HP:0000520	Proptosis	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0100886	HP:0000316	Hypertelorism	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0100886	HP:0000601	Hypotelorism	1	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0100886	HP:0000601	Hypotelorism	1	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0100886	HP:0000316	Hypertelorism	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0100886	HP:0000520	Proptosis	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	3
HP:0100886	HP:0000490	Deeply set eye	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0100886	HP:0000316	Hypertelorism	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0100886	HP:0000316	Hypertelorism	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.	102
HP:0100886	HP:0000316	Hypertelorism	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent	102
HP:0100886	HP:0000316	Hypertelorism	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	HP:0040283 - Occasional	3
HP:0100886	HP:0000490	Deeply set eye	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0100886	HP:0000520	Proptosis	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0100886	HP:0000316	Hypertelorism	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0100886	HP:0000316	Hypertelorism	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0100886	HP:0000316	Hypertelorism	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0100886	HP:0000316	Hypertelorism	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0100886	HP:0000520	Proptosis	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent	35
HP:0100886	HP:0000316	Hypertelorism	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0100886	HP:0000520	Proptosis	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0100886	HP:0000316	Hypertelorism	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0100886	HP:0000520	Proptosis	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0100886	HP:0000520	Proptosis	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0100886	HP:0000316	Hypertelorism	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0100886	HP:0000520	Proptosis	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0100886	HP:0000316	Hypertelorism	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0100886	HP:0000316	Hypertelorism	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0100886	HP:0000520	Proptosis	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0100886	HP:0000601	Hypotelorism	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0100886	HP:0000316	Hypertelorism	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0100886	HP:0000316	Hypertelorism	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100886	HP:0000520	Proptosis	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100886	HP:0000520	Proptosis	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0100886	HP:0000316	Hypertelorism	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0100886	HP:0000316	Hypertelorism	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100886	HP:0000520	Proptosis	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100886	HP:0000520	Proptosis	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0100886	HP:0000316	Hypertelorism	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0100886	HP:0000316	Hypertelorism	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0100886	HP:0000520	Proptosis	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0100886	HP:0000316	Hypertelorism	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0100886	HP:0000316	Hypertelorism	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0100886	HP:0000520	Proptosis	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0100886	HP:0000316	Hypertelorism	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional	7
HP:0100886	HP:0000316	Hypertelorism	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0100886	HP:0000490	Deeply set eye	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0100886	HP:0000490	Deeply set eye	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0100886	HP:0000601	Hypotelorism	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0100886	HP:0000316	Hypertelorism	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0100886	HP:0000316	Hypertelorism	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0100886	HP:0000316	Hypertelorism	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0100886	HP:0000316	Hypertelorism	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0100886	HP:0000316	Hypertelorism	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0100886	HP:0000316	Hypertelorism	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0100886	HP:0000520	Proptosis	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0100886	HP:0000490	Deeply set eye	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0100886	HP:0000490	Deeply set eye	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0100886	HP:0000490	Deeply set eye	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent	1361
HP:0100886	HP:0000520	Proptosis	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	1361
HP:0100886	HP:0000316	Hypertelorism	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	1361
HP:0100886	HP:0000520	Proptosis	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0100886	HP:0000316	Hypertelorism	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0100886	HP:0000490	Deeply set eye	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0100886	HP:0000316	Hypertelorism	1	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0100886	HP:0000490	Deeply set eye	1	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45	.	8
HP:0100886	HP:0000316	Hypertelorism	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0100886	HP:0000316	Hypertelorism	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0100886	HP:0000316	Hypertelorism	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0100886	HP:0000316	Hypertelorism	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	3
HP:0100886	HP:0000316	Hypertelorism	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040283 - Occasional	18
HP:0100886	HP:0000601	Hypotelorism	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	17
HP:0100886	HP:0009914	Cyclopia	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0100886	HP:0000601	Hypotelorism	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	17
HP:0100886	HP:0009914	Cyclopia	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	17
HP:0100886	HP:0000601	Hypotelorism	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	17
HP:0100886	HP:0009914	Cyclopia	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0100886	HP:0009914	Cyclopia	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0100886	HP:0000601	Hypotelorism	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	17
HP:0100886	HP:0000316	Hypertelorism	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	17
HP:0100886	HP:0000601	Hypotelorism	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	17
HP:0100886	HP:0009914	Cyclopia	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0100886	HP:0000520	Proptosis	1	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3	HP:0040284 - Very rare	75
HP:0100886	HP:0000316	Hypertelorism	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0100886	HP:0000316	Hypertelorism	1	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent	172
HP:0100886	HP:0000601	Hypotelorism	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0100886	HP:0000601	Hypotelorism	1	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent	172
HP:0100886	HP:0000601	Hypotelorism	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	172
HP:0100886	HP:0009914	Cyclopia	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	172
HP:0100886	HP:0000601	Hypotelorism	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	172
HP:0100886	HP:0009914	Cyclopia	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0100886	HP:0000316	Hypertelorism	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	172
HP:0100886	HP:0000316	Hypertelorism	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0100886	HP:0000520	Proptosis	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0100886	HP:0000316	Hypertelorism	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040281 - Very frequent	172
HP:0100886	HP:0000316	Hypertelorism	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0100886	HP:0000520	Proptosis	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0100886	HP:0000316	Hypertelorism	1	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0100886	HP:0000520	Proptosis	1	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent	172
HP:0100886	HP:0009914	Cyclopia	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0100886	HP:0000601	Hypotelorism	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	172
HP:0100886	HP:0000601	Hypotelorism	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.	172
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040281 - Very frequent	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.	175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional	175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type	HP:0040281 - Very frequent	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040282 - Frequent	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040281 - Very frequent	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0100886	HP:0000601	Hypotelorism	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0100886	HP:0000520	Proptosis	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0100886	HP:0000316	Hypertelorism	1	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans	.	145
HP:0100886	HP:0000520	Proptosis	1	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans	.	145
HP:0100886	HP:0000520	Proptosis	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0100886	HP:0000316	Hypertelorism	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0100886	HP:0000316	Hypertelorism	1	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional	145
HP:0100886	HP:0000520	Proptosis	1	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	145
HP:0100886	HP:0000316	Hypertelorism	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0100886	HP:0000316	Hypertelorism	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0100886	HP:0000316	Hypertelorism	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0100886	HP:0000520	Proptosis	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0100886	HP:0000520	Proptosis	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0100886	HP:0000316	Hypertelorism	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0100886	HP:0000601	Hypotelorism	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0100886	HP:0000520	Proptosis	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0100886	HP:0000520	Proptosis	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent	145
HP:0100886	HP:0000316	Hypertelorism	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100886	HP:0000520	Proptosis	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100886	HP:0000316	Hypertelorism	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0100886	HP:0000490	Deeply set eye	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0100886	HP:0000316	Hypertelorism	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0100886	HP:0000316	Hypertelorism	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0100886	HP:0000490	Deeply set eye	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0100886	HP:0000520	Proptosis	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0100886	HP:0000316	Hypertelorism	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0100886	HP:0000316	Hypertelorism	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0100886	HP:0000520	Proptosis	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0100886	HP:0000601	Hypotelorism	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0100886	HP:0000316	Hypertelorism	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0100886	HP:0000316	Hypertelorism	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0100886	HP:0000520	Proptosis	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040284 - Very rare	8
HP:0100886	HP:0000490	Deeply set eye	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	HP:0040284 - Very rare	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0100886	HP:0000520	Proptosis	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent	493
HP:0100886	HP:0000520	Proptosis	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0100886	HP:0000316	Hypertelorism	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0100886	HP:0000520	Proptosis	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0100886	HP:0000316	Hypertelorism	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0100886	HP:0000520	Proptosis	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0100886	HP:0000316	Hypertelorism	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0100886	HP:0000520	Proptosis	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0100886	HP:0000316	Hypertelorism	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040281 - Very frequent	233
HP:0100886	HP:0000316	Hypertelorism	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0100886	HP:0000316	Hypertelorism	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0100886	HP:0000520	Proptosis	1	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0100886	HP:0000490	Deeply set eye	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent	30
HP:0100886	HP:0000520	Proptosis	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0100886	HP:0000520	Proptosis	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100886	HP:0000316	Hypertelorism	1	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	63
HP:0100886	HP:0000520	Proptosis	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0100886	HP:0000316	Hypertelorism	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0100886	HP:0000316	Hypertelorism	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0100886	HP:0000490	Deeply set eye	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0100886	HP:0000316	Hypertelorism	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0100886	HP:0000601	Hypotelorism	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	48
HP:0100886	HP:0009914	Cyclopia	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0100886	HP:0009914	Cyclopia	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	48
HP:0100886	HP:0000601	Hypotelorism	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	48
HP:0100886	HP:0000601	Hypotelorism	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	48
HP:0100886	HP:0009914	Cyclopia	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0100886	HP:0000601	Hypotelorism	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	48
HP:0100886	HP:0009914	Cyclopia	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0100886	HP:0009914	Cyclopia	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0100886	HP:0000601	Hypotelorism	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	48
HP:0100886	HP:0000316	Hypertelorism	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0100886	HP:0000316	Hypertelorism	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0100886	HP:0000316	Hypertelorism	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0100886	HP:0000316	Hypertelorism	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0100886	HP:0000601	Hypotelorism	1	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent	198
HP:0100886	HP:0000316	Hypertelorism	1	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0100886	HP:0000316	Hypertelorism	1	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040281 - Very frequent	198
HP:0100886	HP:0000316	Hypertelorism	1	FREM1 CL E G H	158326	23399	OMIM:614485	Trigonocephaly 2	HP:0040283 - Occasional	198
HP:0100886	HP:0000316	Hypertelorism	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0100886	HP:0000316	Hypertelorism	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0100886	HP:0000316	Hypertelorism	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040282 - Frequent
HP:0100886	HP:0000316	Hypertelorism	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000520	Proptosis	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0100886	HP:0000490	Deeply set eye	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	10
HP:0100886	HP:0000316	Hypertelorism	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0100886	HP:0000316	Hypertelorism	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0100886	HP:0009914	Cyclopia	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0100886	HP:0000601	Hypotelorism	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	2
HP:0100886	HP:0009914	Cyclopia	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	2
HP:0100886	HP:0000601	Hypotelorism	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	2
HP:0100886	HP:0009914	Cyclopia	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0100886	HP:0000601	Hypotelorism	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	2
HP:0100886	HP:0000601	Hypotelorism	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	2
HP:0100886	HP:0009914	Cyclopia	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0100886	HP:0000601	Hypotelorism	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	2
HP:0100886	HP:0009914	Cyclopia	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0100886	HP:0000316	Hypertelorism	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0100886	HP:0000601	Hypotelorism	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia	HP:0040283 - Occasional	137
HP:0100886	HP:0000490	Deeply set eye	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0100886	HP:0000520	Proptosis	1	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	87
HP:0100886	HP:0000520	Proptosis	1	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot	.	87
HP:0100886	HP:0000520	Proptosis	1	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	10
HP:0100886	HP:0000316	Hypertelorism	1	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	HP:0040283 - Occasional	37
HP:0100886	HP:0000520	Proptosis	1	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	37
HP:0100886	HP:0000520	Proptosis	1	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot	.	37
HP:0100886	HP:0000490	Deeply set eye	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0100886	HP:0000316	Hypertelorism	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0100886	HP:0000490	Deeply set eye	1	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:0100886	HP:0000316	Hypertelorism	1	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:0100886	HP:0000316	Hypertelorism	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0100886	HP:0000520	Proptosis	1	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	28
HP:0100886	HP:0000316	Hypertelorism	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	1
HP:0100886	HP:0000316	Hypertelorism	1	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040281 - Very frequent	68
HP:0100886	HP:0000316	Hypertelorism	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0100886	HP:0000490	Deeply set eye	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0100886	HP:0000316	Hypertelorism	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0100886	HP:0000601	Hypotelorism	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0100886	HP:0000601	Hypotelorism	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0100886	HP:0000316	Hypertelorism	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0100886	HP:0000490	Deeply set eye	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0100886	HP:0000520	Proptosis	1	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	39
HP:0100886	HP:0000316	Hypertelorism	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0100886	HP:0000601	Hypotelorism	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0100886	HP:0000490	Deeply set eye	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0100886	HP:0000316	Hypertelorism	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0100886	HP:0000316	Hypertelorism	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0100886	HP:0000316	Hypertelorism	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040281 - Very frequent	45
HP:0100886	HP:0009914	Cyclopia	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0100886	HP:0000601	Hypotelorism	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	173
HP:0100886	HP:0000601	Hypotelorism	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	HP:0040283 - Occasional	173
HP:0100886	HP:0000601	Hypotelorism	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100886	HP:0000601	Hypotelorism	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	173
HP:0100886	HP:0009914	Cyclopia	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	173
HP:0100886	HP:0000601	Hypotelorism	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	173
HP:0100886	HP:0009914	Cyclopia	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0100886	HP:0009914	Cyclopia	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0100886	HP:0000601	Hypotelorism	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	173
HP:0100886	HP:0009914	Cyclopia	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0100886	HP:0000601	Hypotelorism	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	173
HP:0100886	HP:0000316	Hypertelorism	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040281 - Very frequent	270
HP:0100886	HP:0000316	Hypertelorism	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0100886	HP:0000316	Hypertelorism	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040282 - Frequent	270
HP:0100886	HP:0000316	Hypertelorism	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0100886	HP:0000490	Deeply set eye	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0100886	HP:0000601	Hypotelorism	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100886	HP:0000490	Deeply set eye	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100886	HP:0000316	Hypertelorism	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0100886	HP:0000316	Hypertelorism	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0100886	HP:0000316	Hypertelorism	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100886	HP:0000520	Proptosis	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0100886	HP:0000316	Hypertelorism	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	15
HP:0100886	HP:0000316	Hypertelorism	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	92
HP:0100886	HP:0000490	Deeply set eye	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0100886	HP:0000316	Hypertelorism	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0100886	HP:0000601	Hypotelorism	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0100886	HP:0000316	Hypertelorism	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0100886	HP:0000490	Deeply set eye	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0100886	HP:0000316	Hypertelorism	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0100886	HP:0000316	Hypertelorism	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0100886	HP:0000316	Hypertelorism	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0100886	HP:0000316	Hypertelorism	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0100886	HP:0000316	Hypertelorism	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0100886	HP:0000316	Hypertelorism	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0100886	HP:0000490	Deeply set eye	1	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000601	Hypotelorism	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0100886	HP:0000601	Hypotelorism	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0100886	HP:0000316	Hypertelorism	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0100886	HP:0000490	Deeply set eye	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0100886	HP:0000490	Deeply set eye	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0100886	HP:0000316	Hypertelorism	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0100886	HP:0000601	Hypotelorism	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0100886	HP:0000490	Deeply set eye	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0100886	HP:0000601	Hypotelorism	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0100886	HP:0000316	Hypertelorism	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0100886	HP:0000316	Hypertelorism	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0100886	HP:0000601	Hypotelorism	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0100886	HP:0000601	Hypotelorism	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0100886	HP:0000520	Proptosis	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0100886	HP:0000520	Proptosis	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0100886	HP:0000316	Hypertelorism	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0100886	HP:0000490	Deeply set eye	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0100886	HP:0000316	Hypertelorism	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0100886	HP:0000316	Hypertelorism	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0100886	HP:0000490	Deeply set eye	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100886	HP:0000316	Hypertelorism	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0100886	HP:0000316	Hypertelorism	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent	10
HP:0100886	HP:0000490	Deeply set eye	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent	10
HP:0100886	HP:0000316	Hypertelorism	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0100886	HP:0000316	Hypertelorism	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0100886	HP:0000490	Deeply set eye	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0100886	HP:0000490	Deeply set eye	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0100886	HP:0000316	Hypertelorism	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0100886	HP:0000490	Deeply set eye	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0100886	HP:0000316	Hypertelorism	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0100886	HP:0000490	Deeply set eye	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0100886	HP:0000316	Hypertelorism	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0100886	HP:0000490	Deeply set eye	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0100886	HP:0000316	Hypertelorism	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	6
HP:0100886	HP:0000316	Hypertelorism	1	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	.	6
HP:0100886	HP:0000520	Proptosis	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0100886	HP:0000316	Hypertelorism	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0100886	HP:0000316	Hypertelorism	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040281 - Very frequent	16
HP:0100886	HP:0000520	Proptosis	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0100886	HP:0000316	Hypertelorism	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0100886	HP:0000490	Deeply set eye	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0100886	HP:0000316	Hypertelorism	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0100886	HP:0000316	Hypertelorism	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0100886	HP:0000316	Hypertelorism	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0100886	HP:0000520	Proptosis	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0100886	HP:0000520	Proptosis	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0100886	HP:0000490	Deeply set eye	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0100886	HP:0000316	Hypertelorism	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent	2
HP:0100886	HP:0000601	Hypotelorism	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0100886	HP:0000316	Hypertelorism	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0100886	HP:0000520	Proptosis	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0100886	HP:0000520	Proptosis	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0100886	HP:0000316	Hypertelorism	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040282 - Frequent	39
HP:0100886	HP:0000316	Hypertelorism	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0100886	HP:0000316	Hypertelorism	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0100886	HP:0000316	Hypertelorism	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0100886	HP:0000316	Hypertelorism	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0100886	HP:0000316	Hypertelorism	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	8
HP:0100886	HP:0000490	Deeply set eye	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0100886	HP:0000316	Hypertelorism	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0100886	HP:0000490	Deeply set eye	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	345
HP:0100886	HP:0000520	Proptosis	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0100886	HP:0000316	Hypertelorism	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0100886	HP:0000316	Hypertelorism	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0100886	HP:0000601	Hypotelorism	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0100886	HP:0000490	Deeply set eye	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0100886	HP:0000316	Hypertelorism	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0100886	HP:0000490	Deeply set eye	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0100886	HP:0000520	Proptosis	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0100886	HP:0000490	Deeply set eye	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0100886	HP:0000316	Hypertelorism	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0100886	HP:0000601	Hypotelorism	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	93
HP:0100886	HP:0000601	Hypotelorism	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0100886	HP:0000316	Hypertelorism	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0100886	HP:0000601	Hypotelorism	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	11
HP:0100886	HP:0000316	Hypertelorism	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0100886	HP:0000601	Hypotelorism	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	4
HP:0100886	HP:0000520	Proptosis	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly	.	2
HP:0100886	HP:0000490	Deeply set eye	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0100886	HP:0000520	Proptosis	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0100886	HP:0000316	Hypertelorism	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	7
HP:0100886	HP:0000316	Hypertelorism	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0100886	HP:0000316	Hypertelorism	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional	8
HP:0100886	HP:0000520	Proptosis	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0100886	HP:0000316	Hypertelorism	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.	42
HP:0100886	HP:0000316	Hypertelorism	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0100886	HP:0000316	Hypertelorism	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0100886	HP:0000520	Proptosis	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0100886	HP:0000520	Proptosis	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0100886	HP:0000316	Hypertelorism	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0100886	HP:0000316	Hypertelorism	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0100886	HP:0000316	Hypertelorism	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0100886	HP:0000316	Hypertelorism	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100886	HP:0000316	Hypertelorism	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0100886	HP:0000316	Hypertelorism	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100886	HP:0000520	Proptosis	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100886	HP:0000490	Deeply set eye	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100886	HP:0000490	Deeply set eye	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0100886	HP:0000316	Hypertelorism	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0100886	HP:0000520	Proptosis	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0100886	HP:0000316	Hypertelorism	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0100886	HP:0000316	Hypertelorism	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0100886	HP:0000520	Proptosis	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0100886	HP:0000520	Proptosis	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040282 - Frequent	3
HP:0100886	HP:0000316	Hypertelorism	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0100886	HP:0000316	Hypertelorism	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	4
HP:0100886	HP:0000316	Hypertelorism	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0100886	HP:0000316	Hypertelorism	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0100886	HP:0000490	Deeply set eye	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0100886	HP:0000520	Proptosis	1	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot	.	257
HP:0100886	HP:0000520	Proptosis	1	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	257
HP:0100886	HP:0000316	Hypertelorism	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0100886	HP:0000601	Hypotelorism	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0100886	HP:0000490	Deeply set eye	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100886	HP:0000520	Proptosis	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100886	HP:0000316	Hypertelorism	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent	141
HP:0100886	HP:0000601	Hypotelorism	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0100886	HP:0000316	Hypertelorism	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent	10
HP:0100886	HP:0000316	Hypertelorism	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0100886	HP:0000316	Hypertelorism	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0100886	HP:0000490	Deeply set eye	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	1
HP:0100886	HP:0000316	Hypertelorism	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0100886	HP:0000316	Hypertelorism	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0100886	HP:0000316	Hypertelorism	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	13
HP:0100886	HP:0000316	Hypertelorism	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0100886	HP:0000316	Hypertelorism	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0100886	HP:0000316	Hypertelorism	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0100886	HP:0000520	Proptosis	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0100886	HP:0000520	Proptosis	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0100886	HP:0000490	Deeply set eye	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0100886	HP:0000316	Hypertelorism	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0100886	HP:0000316	Hypertelorism	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	7
HP:0100886	HP:0000520	Proptosis	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0100886	HP:0000520	Proptosis	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0100886	HP:0000601	Hypotelorism	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0100886	HP:0000316	Hypertelorism	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0100886	HP:0000490	Deeply set eye	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0100886	HP:0000490	Deeply set eye	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0100886	HP:0000520	Proptosis	1	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	40
HP:0100886	HP:0000316	Hypertelorism	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0100886	HP:0000316	Hypertelorism	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0100886	HP:0000316	Hypertelorism	1	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0100886	HP:0000490	Deeply set eye	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0100886	HP:0000490	Deeply set eye	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent	4
HP:0100886	HP:0000316	Hypertelorism	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040281 - Very frequent	167
HP:0100886	HP:0000316	Hypertelorism	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100886	HP:0000316	Hypertelorism	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0100886	HP:0000490	Deeply set eye	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0100886	HP:0000316	Hypertelorism	1	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent	167
HP:0100886	HP:0000316	Hypertelorism	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0100886	HP:0000316	Hypertelorism	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	3
HP:0100886	HP:0000316	Hypertelorism	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	14
HP:0100886	HP:0000316	Hypertelorism	1	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0100886	HP:0000316	Hypertelorism	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0100886	HP:0000316	Hypertelorism	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	13
HP:0100886	HP:0000316	Hypertelorism	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0100886	HP:0000316	Hypertelorism	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0100886	HP:0000490	Deeply set eye	1	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0100886	HP:0000490	Deeply set eye	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0100886	HP:0000316	Hypertelorism	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.	112
HP:0100886	HP:0000316	Hypertelorism	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0100886	HP:0000490	Deeply set eye	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0100886	HP:0000316	Hypertelorism	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0100886	HP:0000316	Hypertelorism	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0100886	HP:0000316	Hypertelorism	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0100886	HP:0000520	Proptosis	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0100886	HP:0000316	Hypertelorism	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0100886	HP:0000316	Hypertelorism	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0100886	HP:0000520	Proptosis	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0100886	HP:0000520	Proptosis	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0100886	HP:0000316	Hypertelorism	1	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	HP:0040283 - Occasional	1
HP:0100886	HP:0000316	Hypertelorism	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000601	Hypotelorism	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000490	Deeply set eye	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040281 - Very frequent	16
HP:0100886	HP:0000490	Deeply set eye	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0100886	HP:0000490	Deeply set eye	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0100886	HP:0000316	Hypertelorism	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100886	HP:0000316	Hypertelorism	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0100886	HP:0000520	Proptosis	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0100886	HP:0000316	Hypertelorism	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent	68
HP:0100886	HP:0000490	Deeply set eye	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0100886	HP:0000316	Hypertelorism	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100886	HP:0000520	Proptosis	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100886	HP:0000520	Proptosis	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0100886	HP:0000490	Deeply set eye	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0100886	HP:0000316	Hypertelorism	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent	88
HP:0100886	HP:0000601	Hypotelorism	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.	88
HP:0100886	HP:0000316	Hypertelorism	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040283 - Occasional	106
HP:0100886	HP:0000520	Proptosis	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0100886	HP:0000520	Proptosis	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0100886	HP:0000520	Proptosis	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent	645
HP:0100886	HP:0000316	Hypertelorism	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0100886	HP:0000520	Proptosis	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0100886	HP:0000316	Hypertelorism	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0100886	HP:0000316	Hypertelorism	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0100886	HP:0000316	Hypertelorism	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0100886	HP:0000520	Proptosis	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent	289
HP:0100886	HP:0000520	Proptosis	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0100886	HP:0000316	Hypertelorism	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0100886	HP:0000316	Hypertelorism	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.	124
HP:0100886	HP:0000316	Hypertelorism	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	124
HP:0100886	HP:0000520	Proptosis	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0100886	HP:0000316	Hypertelorism	1	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.	124
HP:0100886	HP:0000316	Hypertelorism	1	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040281 - Very frequent	125
HP:0100886	HP:0000316	Hypertelorism	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0100886	HP:0000316	Hypertelorism	1	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant	.	3
HP:0100886	HP:0000316	Hypertelorism	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0100886	HP:0000520	Proptosis	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0100886	HP:0000316	Hypertelorism	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0100886	HP:0000490	Deeply set eye	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0100886	HP:0000520	Proptosis	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0100886	HP:0000316	Hypertelorism	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0100886	HP:0000316	Hypertelorism	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0100886	HP:0000316	Hypertelorism	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0100886	HP:0000316	Hypertelorism	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0100886	HP:0000520	Proptosis	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0100886	HP:0000520	Proptosis	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0100886	HP:0000316	Hypertelorism	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0100886	HP:0000316	Hypertelorism	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0100886	HP:0000490	Deeply set eye	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	63
HP:0100886	HP:0000520	Proptosis	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent	63
HP:0100886	HP:0000520	Proptosis	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0100886	HP:0000316	Hypertelorism	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent	93
HP:0100886	HP:0000316	Hypertelorism	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0100886	HP:0000316	Hypertelorism	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0100886	HP:0000520	Proptosis	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0100886	HP:0000316	Hypertelorism	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0100886	HP:0000316	Hypertelorism	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0100886	HP:0000316	Hypertelorism	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0100886	HP:0000316	Hypertelorism	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0100886	HP:0000316	Hypertelorism	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	178
HP:0100886	HP:0000316	Hypertelorism	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0100886	HP:0000316	Hypertelorism	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	11
HP:0100886	HP:0000316	Hypertelorism	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0100886	HP:0000490	Deeply set eye	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0100886	HP:0000490	Deeply set eye	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0100886	HP:0000316	Hypertelorism	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0100886	HP:0000316	Hypertelorism	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	HP:0040283 - Occasional	4
HP:0100886	HP:0000316	Hypertelorism	1	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	HP:0040283 - Occasional	25
HP:0100886	HP:0000316	Hypertelorism	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0100886	HP:0000316	Hypertelorism	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0100886	HP:0000316	Hypertelorism	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0100886	HP:0000316	Hypertelorism	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0100886	HP:0000316	Hypertelorism	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0100886	HP:0000316	Hypertelorism	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0100886	HP:0000316	Hypertelorism	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0100886	HP:0000316	Hypertelorism	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0100886	HP:0000490	Deeply set eye	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100886	HP:0000316	Hypertelorism	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100886	HP:0000316	Hypertelorism	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0100886	HP:0000316	Hypertelorism	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0100886	HP:0000316	Hypertelorism	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0100886	HP:0000316	Hypertelorism	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0100886	HP:0000316	Hypertelorism	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0100886	HP:0000316	Hypertelorism	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0100886	HP:0000490	Deeply set eye	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0100886	HP:0000490	Deeply set eye	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0100886	HP:0000316	Hypertelorism	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0100886	HP:0000490	Deeply set eye	1	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:0100886	HP:0000316	Hypertelorism	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0100886	HP:0000490	Deeply set eye	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040282 - Frequent	7
HP:0100886	HP:0000490	Deeply set eye	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0100886	HP:0000316	Hypertelorism	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0100886	HP:0000316	Hypertelorism	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0100886	HP:0000316	Hypertelorism	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0100886	HP:0000316	Hypertelorism	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040281 - Very frequent	57
HP:0100886	HP:0000316	Hypertelorism	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0100886	HP:0000520	Proptosis	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0100886	HP:0000316	Hypertelorism	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0100886	HP:0000316	Hypertelorism	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0100886	HP:0000316	Hypertelorism	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0100886	HP:0000601	Hypotelorism	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0100886	HP:0000601	Hypotelorism	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0100886	HP:0000316	Hypertelorism	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0100886	HP:0000520	Proptosis	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0100886	HP:0000490	Deeply set eye	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0100886	HP:0000316	Hypertelorism	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0100886	HP:0000316	Hypertelorism	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0100886	HP:0000601	Hypotelorism	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0100886	HP:0000316	Hypertelorism	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0100886	HP:0000520	Proptosis	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0100886	HP:0000316	Hypertelorism	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0100886	HP:0000490	Deeply set eye	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0100886	HP:0000601	Hypotelorism	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0100886	HP:0000601	Hypotelorism	1	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	HP:0040283 - Occasional	45
HP:0100886	HP:0000520	Proptosis	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent	183
HP:0100886	HP:0000316	Hypertelorism	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0100886	HP:0000316	Hypertelorism	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0100886	HP:0000520	Proptosis	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0100886	HP:0000520	Proptosis	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent
HP:0100886	HP:0000520	Proptosis	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0100886	HP:0000316	Hypertelorism	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	72
HP:0100886	HP:0000316	Hypertelorism	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0100886	HP:0000520	Proptosis	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0100886	HP:0000316	Hypertelorism	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0100886	HP:0000490	Deeply set eye	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0100886	HP:0000316	Hypertelorism	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0100886	HP:0000490	Deeply set eye	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent	166
HP:0100886	HP:0000316	Hypertelorism	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0100886	HP:0000316	Hypertelorism	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0100886	HP:0000316	Hypertelorism	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0100886	HP:0000520	Proptosis	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0100886	HP:0000316	Hypertelorism	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0100886	HP:0000520	Proptosis	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0100886	HP:0000490	Deeply set eye	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0100886	HP:0000520	Proptosis	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0100886	HP:0000316	Hypertelorism	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0100886	HP:0000490	Deeply set eye	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent	48
HP:0100886	HP:0000316	Hypertelorism	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0100886	HP:0000601	Hypotelorism	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0100886	HP:0000316	Hypertelorism	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0100886	HP:0000520	Proptosis	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.	25
HP:0100886	HP:0000316	Hypertelorism	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	HP:0040283 - Occasional	25
HP:0100886	HP:0000316	Hypertelorism	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0100886	HP:0000601	Hypotelorism	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:0100886	HP:0000316	Hypertelorism	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent	96
HP:0100886	HP:0000520	Proptosis	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0100886	HP:0000490	Deeply set eye	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	.	39
HP:0100886	HP:0000601	Hypotelorism	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0100886	HP:0000490	Deeply set eye	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0100886	HP:0000316	Hypertelorism	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0100886	HP:0000316	Hypertelorism	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	745
HP:0100886	HP:0000316	Hypertelorism	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0100886	HP:0000316	Hypertelorism	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000520	Proptosis	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0100886	HP:0000490	Deeply set eye	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100886	HP:0000520	Proptosis	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100886	HP:0000601	Hypotelorism	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0100886	HP:0000316	Hypertelorism	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040281 - Very frequent	1952
HP:0100886	HP:0000316	Hypertelorism	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0100886	HP:0000316	Hypertelorism	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0100886	HP:0000316	Hypertelorism	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	1952
HP:0100886	HP:0000316	Hypertelorism	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0100886	HP:0000520	Proptosis	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0100886	HP:0000316	Hypertelorism	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0100886	HP:0000490	Deeply set eye	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0100886	HP:0000316	Hypertelorism	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent	40
HP:0100886	HP:0000520	Proptosis	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0100886	HP:0000520	Proptosis	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0100886	HP:0000490	Deeply set eye	1	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0100886	HP:0000316	Hypertelorism	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0100886	HP:0000601	Hypotelorism	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0100886	HP:0000601	Hypotelorism	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0100886	HP:0000520	Proptosis	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0100886	HP:0000316	Hypertelorism	1	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	HP:0040283 - Occasional	90
HP:0100886	HP:0000520	Proptosis	1	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0100886	HP:0000520	Proptosis	1	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot	.	90
HP:0100886	HP:0000316	Hypertelorism	1	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	HP:0040283 - Occasional	3
HP:0100886	HP:0000520	Proptosis	1	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	3
HP:0100886	HP:0000316	Hypertelorism	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0100886	HP:0000520	Proptosis	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent	217
HP:0100886	HP:0000520	Proptosis	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0100886	HP:0009914	Cyclopia	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0100886	HP:0000601	Hypotelorism	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	45
HP:0100886	HP:0009914	Cyclopia	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	45
HP:0100886	HP:0000601	Hypotelorism	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	45
HP:0100886	HP:0000601	Hypotelorism	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	45
HP:0100886	HP:0009914	Cyclopia	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0100886	HP:0009914	Cyclopia	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0100886	HP:0000601	Hypotelorism	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	45
HP:0100886	HP:0009914	Cyclopia	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0100886	HP:0000601	Hypotelorism	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	45
HP:0100886	HP:0000316	Hypertelorism	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0100886	HP:0000316	Hypertelorism	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent	138
HP:0100886	HP:0000520	Proptosis	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0100886	HP:0000316	Hypertelorism	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0100886	HP:0000316	Hypertelorism	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0100886	HP:0000490	Deeply set eye	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0100886	HP:0000316	Hypertelorism	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0100886	HP:0000316	Hypertelorism	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0100886	HP:0000520	Proptosis	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0100886	HP:0000316	Hypertelorism	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0100886	HP:0000316	Hypertelorism	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0100886	HP:0000316	Hypertelorism	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0100886	HP:0000316	Hypertelorism	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0100886	HP:0000316	Hypertelorism	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0100886	HP:0000316	Hypertelorism	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100886	HP:0000520	Proptosis	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100886	HP:0000520	Proptosis	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0100886	HP:0000316	Hypertelorism	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0100886	HP:0000316	Hypertelorism	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0100886	HP:0000316	Hypertelorism	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	6
HP:0100886	HP:0000316	Hypertelorism	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0100886	HP:0000316	Hypertelorism	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent	84
HP:0100886	HP:0000601	Hypotelorism	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0100886	HP:0000316	Hypertelorism	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	HP:0040283 - Occasional	84
HP:0100886	HP:0000601	Hypotelorism	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0100886	HP:0000490	Deeply set eye	1	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0100886	HP:0000316	Hypertelorism	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	5
HP:0100886	HP:0000601	Hypotelorism	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	5
HP:0100886	HP:0000601	Hypotelorism	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	1
HP:0100886	HP:0000316	Hypertelorism	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	1
HP:0100886	HP:0000316	Hypertelorism	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0100886	HP:0000316	Hypertelorism	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	2
HP:0100886	HP:0000520	Proptosis	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0100886	HP:0000520	Proptosis	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0100886	HP:0000316	Hypertelorism	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0100886	HP:0000490	Deeply set eye	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0100886	HP:0000316	Hypertelorism	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0100886	HP:0000490	Deeply set eye	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0100886	HP:0000490	Deeply set eye	1	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:0100886	HP:0000316	Hypertelorism	1	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:0100886	HP:0000316	Hypertelorism	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0100886	HP:0000316	Hypertelorism	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040281 - Very frequent	201
HP:0100886	HP:0000316	Hypertelorism	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0100886	HP:0000316	Hypertelorism	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0100886	HP:0000316	Hypertelorism	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0100886	HP:0000490	Deeply set eye	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0100886	HP:0000601	Hypotelorism	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0100886	HP:0000490	Deeply set eye	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent	55
HP:0100886	HP:0000490	Deeply set eye	1	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent	19
HP:0100886	HP:0000601	Hypotelorism	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0100886	HP:0000490	Deeply set eye	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0100886	HP:0000520	Proptosis	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0100886	HP:0000316	Hypertelorism	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0100886	HP:0009914	Cyclopia	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0100886	HP:0000520	Proptosis	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0100886	HP:0000520	Proptosis	1	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent	2
HP:0100886	HP:0000520	Proptosis	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0100886	HP:0000316	Hypertelorism	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent	24
HP:0100886	HP:0000316	Hypertelorism	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0100886	HP:0000316	Hypertelorism	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0100886	HP:0000316	Hypertelorism	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent	231
HP:0100886	HP:0000601	Hypotelorism	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0100886	HP:0000316	Hypertelorism	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0100886	HP:0000490	Deeply set eye	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0100886	HP:0000490	Deeply set eye	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0100886	HP:0000316	Hypertelorism	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0100886	HP:0000520	Proptosis	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0100886	HP:0000316	Hypertelorism	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.	1349
HP:0100886	HP:0000520	Proptosis	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0100886	HP:0000316	Hypertelorism	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0100886	HP:0000316	Hypertelorism	1	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.	59
HP:0100886	HP:0000316	Hypertelorism	1	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent	59
HP:0100886	HP:0000316	Hypertelorism	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0100886	HP:0000520	Proptosis	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0100886	HP:0000490	Deeply set eye	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0100886	HP:0000316	Hypertelorism	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0100886	HP:0000601	Hypotelorism	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0100886	HP:0000316	Hypertelorism	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0100886	HP:0000316	Hypertelorism	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0100886	HP:0000520	Proptosis	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0100886	HP:0000520	Proptosis	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0100886	HP:0000520	Proptosis	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0100886	HP:0000316	Hypertelorism	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0100886	HP:0000490	Deeply set eye	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0100886	HP:0000520	Proptosis	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional	66
HP:0100886	HP:0000316	Hypertelorism	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0100886	HP:0000520	Proptosis	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0100886	HP:0000316	Hypertelorism	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent	66
HP:0100886	HP:0000316	Hypertelorism	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0100886	HP:0000316	Hypertelorism	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0100886	HP:0000316	Hypertelorism	1	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.	47
HP:0100886	HP:0000316	Hypertelorism	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0100886	HP:0000316	Hypertelorism	1	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.	98
HP:0100886	HP:0000316	Hypertelorism	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0100886	HP:0000490	Deeply set eye	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0100886	HP:0000316	Hypertelorism	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	8
HP:0100886	HP:0000316	Hypertelorism	1	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0100886	HP:0000316	Hypertelorism	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	20
HP:0100886	HP:0000316	Hypertelorism	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0100886	HP:0000490	Deeply set eye	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0100886	HP:0000490	Deeply set eye	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040282 - Frequent	29
HP:0100886	HP:0000520	Proptosis	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0100886	HP:0000316	Hypertelorism	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0100886	HP:0000316	Hypertelorism	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0100886	HP:0000316	Hypertelorism	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0100886	HP:0000490	Deeply set eye	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0100886	HP:0000490	Deeply set eye	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040281 - Very frequent	77
HP:0100886	HP:0000316	Hypertelorism	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0100886	HP:0000316	Hypertelorism	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0100886	HP:0000520	Proptosis	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0100886	HP:0000316	Hypertelorism	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0100886	HP:0000316	Hypertelorism	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0100886	HP:0000316	Hypertelorism	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0100886	HP:0000520	Proptosis	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	7
HP:0100886	HP:0000316	Hypertelorism	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent	36
HP:0100886	HP:0000316	Hypertelorism	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	36
HP:0100886	HP:0000316	Hypertelorism	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0100886	HP:0000316	Hypertelorism	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0100886	HP:0000316	Hypertelorism	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0100886	HP:0000316	Hypertelorism	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0100886	HP:0000316	Hypertelorism	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0100886	HP:0000316	Hypertelorism	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	84
HP:0100886	HP:0000490	Deeply set eye	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0100886	HP:0000316	Hypertelorism	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0100886	HP:0000316	Hypertelorism	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	57
HP:0100886	HP:0000316	Hypertelorism	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	6
HP:0100886	HP:0000490	Deeply set eye	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0100886	HP:0000316	Hypertelorism	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0100886	HP:0000490	Deeply set eye	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040283 - Occasional	162
HP:0100886	HP:0000316	Hypertelorism	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0100886	HP:0000520	Proptosis	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0100886	HP:0000316	Hypertelorism	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0100886	HP:0000490	Deeply set eye	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0100886	HP:0000316	Hypertelorism	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0100886	HP:0000316	Hypertelorism	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	43
HP:0100886	HP:0000490	Deeply set eye	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent	43
HP:0100886	HP:0000316	Hypertelorism	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040283 - Occasional	43
HP:0100886	HP:0000490	Deeply set eye	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0100886	HP:0000316	Hypertelorism	1	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent	12
HP:0100886	HP:0000316	Hypertelorism	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0100886	HP:0000316	Hypertelorism	1	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	51
HP:0100886	HP:0000520	Proptosis	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0100886	HP:0000520	Proptosis	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0100886	HP:0000520	Proptosis	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0100886	HP:0000316	Hypertelorism	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0100886	HP:0009914	Cyclopia	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0100886	HP:0009914	Cyclopia	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0100886	HP:0000601	Hypotelorism	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent
HP:0100886	HP:0000490	Deeply set eye	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.	759
HP:0100886	HP:0000520	Proptosis	1	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	HP:0040283 - Occasional	11
HP:0100886	HP:0000520	Proptosis	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0100886	HP:0000316	Hypertelorism	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0100886	HP:0000490	Deeply set eye	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0100886	HP:0000316	Hypertelorism	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0100886	HP:0000316	Hypertelorism	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	HP:0040283 - Occasional	10
HP:0100886	HP:0000490	Deeply set eye	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	HP:0040283 - Occasional	10
HP:0100886	HP:0000316	Hypertelorism	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent	35
HP:0100886	HP:0000316	Hypertelorism	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0100886	HP:0000520	Proptosis	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0100886	HP:0000520	Proptosis	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0100886	HP:0000316	Hypertelorism	1	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome	HP:0040281 - Very frequent	8
HP:0100886	HP:0000316	Hypertelorism	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0100886	HP:0000316	Hypertelorism	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0100886	HP:0000316	Hypertelorism	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0100886	HP:0000490	Deeply set eye	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040284 - Very rare	138
HP:0100886	HP:0000601	Hypotelorism	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0100886	HP:0000490	Deeply set eye	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0100886	HP:0000316	Hypertelorism	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0100886	HP:0000316	Hypertelorism	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0100886	HP:0000490	Deeply set eye	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0100886	HP:0000520	Proptosis	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0100886	HP:0000520	Proptosis	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0100886	HP:0000601	Hypotelorism	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0100886	HP:0000316	Hypertelorism	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0100886	HP:0000520	Proptosis	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0100886	HP:0000520	Proptosis	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0100886	HP:0000490	Deeply set eye	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0100886	HP:0000490	Deeply set eye	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0100886	HP:0000316	Hypertelorism	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	9
HP:0100886	HP:0000316	Hypertelorism	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100886	HP:0000316	Hypertelorism	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0100886	HP:0000601	Hypotelorism	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0100886	HP:0000601	Hypotelorism	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0100886	HP:0000316	Hypertelorism	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0100886	HP:0000316	Hypertelorism	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0100886	HP:0000520	Proptosis	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0100886	HP:0000316	Hypertelorism	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0100886	HP:0000316	Hypertelorism	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	13
HP:0100886	HP:0000316	Hypertelorism	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.	10
HP:0100886	HP:0000490	Deeply set eye	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.	10
HP:0100886	HP:0000316	Hypertelorism	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.	2
HP:0100886	HP:0000316	Hypertelorism	1	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0100886	HP:0000490	Deeply set eye	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	148
HP:0100886	HP:0000316	Hypertelorism	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0100886	HP:0000316	Hypertelorism	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0100886	HP:0000316	Hypertelorism	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0100886	HP:0000601	Hypotelorism	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0100886	HP:0000490	Deeply set eye	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000490	Deeply set eye	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0100886	HP:0000316	Hypertelorism	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0100886	HP:0000490	Deeply set eye	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0100886	HP:0000490	Deeply set eye	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040281 - Very frequent	6
HP:0100886	HP:0000316	Hypertelorism	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent	6
HP:0100886	HP:0000316	Hypertelorism	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	9
HP:0100886	HP:0000601	Hypotelorism	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0100886	HP:0000316	Hypertelorism	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	34
HP:0100886	HP:0000316	Hypertelorism	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0100886	HP:0000601	Hypotelorism	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0100886	HP:0000490	Deeply set eye	1	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:0100886	HP:0000316	Hypertelorism	1	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:0100886	HP:0000490	Deeply set eye	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0100886	HP:0009914	Cyclopia	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0100886	HP:0000520	Proptosis	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0100886	HP:0000520	Proptosis	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0100886	HP:0000316	Hypertelorism	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.	27
HP:0100886	HP:0000520	Proptosis	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0100886	HP:0000316	Hypertelorism	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0100886	HP:0000520	Proptosis	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0100886	HP:0000316	Hypertelorism	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0100886	HP:0000490	Deeply set eye	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0100886	HP:0000316	Hypertelorism	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0100886	HP:0009914	Cyclopia	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0100886	HP:0000601	Hypotelorism	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	665
HP:0100886	HP:0000316	Hypertelorism	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0100886	HP:0000316	Hypertelorism	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	665
HP:0100886	HP:0000601	Hypotelorism	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0100886	HP:0000601	Hypotelorism	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	665
HP:0100886	HP:0009914	Cyclopia	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	665
HP:0100886	HP:0000601	Hypotelorism	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	665
HP:0100886	HP:0009914	Cyclopia	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0100886	HP:0000601	Hypotelorism	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	665
HP:0100886	HP:0009914	Cyclopia	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0100886	HP:0000601	Hypotelorism	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	665
HP:0100886	HP:0009914	Cyclopia	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0100886	HP:0000316	Hypertelorism	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0100886	HP:0000316	Hypertelorism	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	40
HP:0100886	HP:0000316	Hypertelorism	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0100886	HP:0000316	Hypertelorism	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0100886	HP:0000316	Hypertelorism	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0100886	HP:0000316	Hypertelorism	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0100886	HP:0000520	Proptosis	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0100886	HP:0000520	Proptosis	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0100886	HP:0000316	Hypertelorism	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0100886	HP:0000316	Hypertelorism	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0100886	HP:0000520	Proptosis	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0100886	HP:0000316	Hypertelorism	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0100886	HP:0000316	Hypertelorism	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0100886	HP:0000520	Proptosis	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0100886	HP:0000316	Hypertelorism	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0100886	HP:0000316	Hypertelorism	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0100886	HP:0000520	Proptosis	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0100886	HP:0000316	Hypertelorism	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0100886	HP:0000316	Hypertelorism	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0100886	HP:0000490	Deeply set eye	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0100886	HP:0000490	Deeply set eye	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0100886	HP:0000316	Hypertelorism	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0100886	HP:0000601	Hypotelorism	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	HP:0040283 - Occasional	53
HP:0100886	HP:0000490	Deeply set eye	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0100886	HP:0000490	Deeply set eye	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0100886	HP:0000316	Hypertelorism	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0100886	HP:0000316	Hypertelorism	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0100886	HP:0000601	Hypotelorism	1	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0100886	HP:0000316	Hypertelorism	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0100886	HP:0000601	Hypotelorism	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	90
HP:0100886	HP:0000490	Deeply set eye	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0100886	HP:0000601	Hypotelorism	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	135
HP:0100886	HP:0000490	Deeply set eye	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0100886	HP:0000316	Hypertelorism	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0100886	HP:0000520	Proptosis	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0100886	HP:0000316	Hypertelorism	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0100886	HP:0000601	Hypotelorism	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0100886	HP:0000520	Proptosis	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0100886	HP:0000316	Hypertelorism	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0100886	HP:0000316	Hypertelorism	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0100886	HP:0000520	Proptosis	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0100886	HP:0000316	Hypertelorism	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0100886	HP:0000316	Hypertelorism	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0100886	HP:0000520	Proptosis	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0100886	HP:0000316	Hypertelorism	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0100886	HP:0000316	Hypertelorism	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0100886	HP:0000316	Hypertelorism	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040283 - Occasional	150
HP:0100886	HP:0000490	Deeply set eye	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0100886	HP:0000490	Deeply set eye	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0100886	HP:0000316	Hypertelorism	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0100886	HP:0000490	Deeply set eye	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0100886	HP:0000316	Hypertelorism	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	73
HP:0100886	HP:0000316	Hypertelorism	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0100886	HP:0000490	Deeply set eye	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0100886	HP:0000520	Proptosis	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0100886	HP:0000316	Hypertelorism	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0100886	HP:0000316	Hypertelorism	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent	365
HP:0100886	HP:0000316	Hypertelorism	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0100886	HP:0000316	Hypertelorism	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent	16
HP:0100886	HP:0000316	Hypertelorism	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0100886	HP:0000601	Hypotelorism	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0100886	HP:0000520	Proptosis	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent	445
HP:0100886	HP:0000316	Hypertelorism	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0100886	HP:0000316	Hypertelorism	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0100886	HP:0000316	Hypertelorism	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0100886	HP:0000316	Hypertelorism	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent	334
HP:0100886	HP:0000490	Deeply set eye	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	16
HP:0100886	HP:0000601	Hypotelorism	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0100886	HP:0000490	Deeply set eye	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0100886	HP:0000316	Hypertelorism	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0100886	HP:0000316	Hypertelorism	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	572
HP:0100886	HP:0000520	Proptosis	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent	69
HP:0100886	HP:0000316	Hypertelorism	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0100886	HP:0000520	Proptosis	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0100886	HP:0000316	Hypertelorism	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0100886	HP:0000316	Hypertelorism	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0100886	HP:0000316	Hypertelorism	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0100886	HP:0000601	Hypotelorism	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0100886	HP:0000316	Hypertelorism	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.	37
HP:0100886	HP:0000316	Hypertelorism	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0100886	HP:0000601	Hypotelorism	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0100886	HP:0000316	Hypertelorism	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0100886	HP:0000490	Deeply set eye	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0100886	HP:0000520	Proptosis	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0100886	HP:0000520	Proptosis	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0100886	HP:0000316	Hypertelorism	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0100886	HP:0000520	Proptosis	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0100886	HP:0000316	Hypertelorism	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	120
HP:0100886	HP:0000316	Hypertelorism	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0100886	HP:0000520	Proptosis	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0100886	HP:0000316	Hypertelorism	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0100886	HP:0000316	Hypertelorism	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0100886	HP:0000316	Hypertelorism	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0100886	HP:0000316	Hypertelorism	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0100886	HP:0000316	Hypertelorism	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100886	HP:0000316	Hypertelorism	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0100886	HP:0000316	Hypertelorism	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100886	HP:0000316	Hypertelorism	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100886	HP:0000316	Hypertelorism	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100886	HP:0000316	Hypertelorism	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0100886	HP:0000316	Hypertelorism	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0100886	HP:0000316	Hypertelorism	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0100886	HP:0000316	Hypertelorism	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.	40
HP:0100886	HP:0000316	Hypertelorism	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0100886	HP:0000316	Hypertelorism	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100886	HP:0000316	Hypertelorism	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0100886	HP:0000316	Hypertelorism	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0100886	HP:0000316	Hypertelorism	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0100886	HP:0000316	Hypertelorism	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100886	HP:0000316	Hypertelorism	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0100886	HP:0000316	Hypertelorism	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0100886	HP:0000316	Hypertelorism	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100886	HP:0000316	Hypertelorism	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100886	HP:0000316	Hypertelorism	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0100886	HP:0000316	Hypertelorism	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0100886	HP:0000316	Hypertelorism	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0100886	HP:0000316	Hypertelorism	1	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional	65
HP:0100886	HP:0000316	Hypertelorism	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0100886	HP:0000316	Hypertelorism	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.	20
HP:0100886	HP:0000520	Proptosis	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0100886	HP:0000520	Proptosis	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0100886	HP:0000316	Hypertelorism	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0100886	HP:0000520	Proptosis	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0100886	HP:0000316	Hypertelorism	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70	.	2
HP:0100886	HP:0000490	Deeply set eye	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0100886	HP:0000520	Proptosis	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0100886	HP:0000601	Hypotelorism	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0100886	HP:0000316	Hypertelorism	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0100886	HP:0000316	Hypertelorism	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0100886	HP:0000316	Hypertelorism	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0100886	HP:0000316	Hypertelorism	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040281 - Very frequent	1200
HP:0100886	HP:0000316	Hypertelorism	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0100886	HP:0000316	Hypertelorism	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0100886	HP:0000490	Deeply set eye	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	86
HP:0100886	HP:0000316	Hypertelorism	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0100886	HP:0000490	Deeply set eye	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0100886	HP:0000490	Deeply set eye	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent	34
HP:0100886	HP:0000316	Hypertelorism	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0100886	HP:0000316	Hypertelorism	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0100886	HP:0000316	Hypertelorism	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0100886	HP:0000316	Hypertelorism	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000520	Proptosis	1	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent	5
HP:0100886	HP:0000520	Proptosis	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0100886	HP:0000316	Hypertelorism	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0100886	HP:0000316	Hypertelorism	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0100886	HP:0000316	Hypertelorism	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent	6
HP:0100886	HP:0000601	Hypotelorism	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0100886	HP:0000490	Deeply set eye	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0100886	HP:0000520	Proptosis	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0100886	HP:0000316	Hypertelorism	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.	1
HP:0100886	HP:0000490	Deeply set eye	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0100886	HP:0000316	Hypertelorism	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.	143
HP:0100886	HP:0000316	Hypertelorism	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0100886	HP:0000520	Proptosis	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0100886	HP:0000520	Proptosis	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0100886	HP:0000316	Hypertelorism	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0100886	HP:0000316	Hypertelorism	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0100886	HP:0000490	Deeply set eye	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0100886	HP:0000316	Hypertelorism	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000520	Proptosis	1	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional	177
HP:0100886	HP:0000520	Proptosis	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism	.	177
HP:0100886	HP:0000316	Hypertelorism	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0100886	HP:0000520	Proptosis	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0100886	HP:0000490	Deeply set eye	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent	134
HP:0100886	HP:0000316	Hypertelorism	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent	134
HP:0100886	HP:0000490	Deeply set eye	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0100886	HP:0000490	Deeply set eye	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0100886	HP:0000316	Hypertelorism	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0100886	HP:0009914	Cyclopia	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0100886	HP:0000601	Hypotelorism	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	67
HP:0100886	HP:0000520	Proptosis	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0100886	HP:0000601	Hypotelorism	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0100886	HP:0009914	Cyclopia	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0100886	HP:0009914	Cyclopia	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	67
HP:0100886	HP:0000601	Hypotelorism	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	67
HP:0100886	HP:0009914	Cyclopia	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0100886	HP:0000601	Hypotelorism	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	67
HP:0100886	HP:0009914	Cyclopia	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0100886	HP:0000601	Hypotelorism	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	67
HP:0100886	HP:0000601	Hypotelorism	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	67
HP:0100886	HP:0009914	Cyclopia	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0100886	HP:0000601	Hypotelorism	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0100886	HP:0009914	Cyclopia	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0100886	HP:0000316	Hypertelorism	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	74
HP:0100886	HP:0000316	Hypertelorism	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0100886	HP:0000520	Proptosis	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0100886	HP:0000601	Hypotelorism	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0100886	HP:0000316	Hypertelorism	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0100886	HP:0000316	Hypertelorism	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0100886	HP:0000520	Proptosis	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0100886	HP:0000316	Hypertelorism	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0100886	HP:0000490	Deeply set eye	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0100886	HP:0000316	Hypertelorism	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0100886	HP:0000601	Hypotelorism	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0100886	HP:0009914	Cyclopia	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0100886	HP:0009914	Cyclopia	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0100886	HP:0000601	Hypotelorism	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0100886	HP:0000520	Proptosis	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100886	HP:0000601	Hypotelorism	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0100886	HP:0009914	Cyclopia	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	32
HP:0100886	HP:0000601	Hypotelorism	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	32
HP:0100886	HP:0009914	Cyclopia	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0100886	HP:0009914	Cyclopia	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0100886	HP:0000601	Hypotelorism	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	32
HP:0100886	HP:0009914	Cyclopia	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0100886	HP:0000601	Hypotelorism	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0100886	HP:0000490	Deeply set eye	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	150
HP:0100886	HP:0000316	Hypertelorism	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0100886	HP:0000520	Proptosis	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0100886	HP:0000520	Proptosis	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	150
HP:0100886	HP:0000316	Hypertelorism	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	150
HP:0100886	HP:0000316	Hypertelorism	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0100886	HP:0000316	Hypertelorism	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0100886	HP:0000316	Hypertelorism	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0100886	HP:0000520	Proptosis	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0100886	HP:0000316	Hypertelorism	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0100886	HP:0000316	Hypertelorism	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0100886	HP:0000316	Hypertelorism	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0100886	HP:0000316	Hypertelorism	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0100886	HP:0000520	Proptosis	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0100886	HP:0000316	Hypertelorism	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0100886	HP:0000316	Hypertelorism	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0100886	HP:0000316	Hypertelorism	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0100886	HP:0000316	Hypertelorism	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	68
HP:0100886	HP:0000520	Proptosis	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0100886	HP:0000520	Proptosis	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0100886	HP:0000316	Hypertelorism	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0100886	HP:0000316	Hypertelorism	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0100886	HP:0000601	Hypotelorism	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0100886	HP:0000490	Deeply set eye	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0100886	HP:0000316	Hypertelorism	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0100886	HP:0000316	Hypertelorism	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0100886	HP:0000316	Hypertelorism	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0100886	HP:0000520	Proptosis	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	24
HP:0100886	HP:0000520	Proptosis	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	HP:0040284 - Very rare	5
HP:0100886	HP:0000316	Hypertelorism	1	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features	.	2
HP:0100886	HP:0000490	Deeply set eye	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040283 - Occasional	93
HP:0100886	HP:0000490	Deeply set eye	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0100886	HP:0000316	Hypertelorism	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0100886	HP:0000520	Proptosis	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0100886	HP:0000316	Hypertelorism	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0100886	HP:0000316	Hypertelorism	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0100886	HP:0000316	Hypertelorism	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0100886	HP:0000520	Proptosis	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100886	HP:0000316	Hypertelorism	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100886	HP:0000316	Hypertelorism	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0100886	HP:0000490	Deeply set eye	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0100886	HP:0000316	Hypertelorism	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0100886	HP:0000316	Hypertelorism	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0100886	HP:0000520	Proptosis	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0100886	HP:0000316	Hypertelorism	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0100886	HP:0000520	Proptosis	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0100886	HP:0000601	Hypotelorism	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0100886	HP:0000490	Deeply set eye	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0100886	HP:0009914	Cyclopia	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0100886	HP:0000601	Hypotelorism	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	135
HP:0100886	HP:0000316	Hypertelorism	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	.	174
HP:0100886	HP:0000316	Hypertelorism	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0100886	HP:0000316	Hypertelorism	1	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040281 - Very frequent	22
HP:0100886	HP:0000520	Proptosis	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0100886	HP:0000601	Hypotelorism	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0100886	HP:0000316	Hypertelorism	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0100886	HP:0000520	Proptosis	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0100886	HP:0000316	Hypertelorism	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0100886	HP:0000316	Hypertelorism	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040281 - Very frequent	94
HP:0100886	HP:0000316	Hypertelorism	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0100886	HP:0000490	Deeply set eye	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0100886	HP:0000316	Hypertelorism	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0100886	HP:0000520	Proptosis	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0100886	HP:0000601	Hypotelorism	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0100886	HP:0000490	Deeply set eye	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0100886	HP:0000490	Deeply set eye	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0100886	HP:0000490	Deeply set eye	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0100886	HP:0000520	Proptosis	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0100886	HP:0000316	Hypertelorism	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0100886	HP:0000316	Hypertelorism	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0100886	HP:0000316	Hypertelorism	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0100886	HP:0000520	Proptosis	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0100886	HP:0000316	Hypertelorism	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0100886	HP:0000316	Hypertelorism	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0100886	HP:0000316	Hypertelorism	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0100886	HP:0000520	Proptosis	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0100886	HP:0000316	Hypertelorism	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0100886	HP:0000520	Proptosis	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent	109
HP:0100886	HP:0000316	Hypertelorism	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent	109
HP:0100886	HP:0000316	Hypertelorism	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0100886	HP:0000316	Hypertelorism	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0100886	HP:0000316	Hypertelorism	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0100886	HP:0000316	Hypertelorism	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0100886	HP:0000316	Hypertelorism	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040281 - Very frequent	6
HP:0100886	HP:0000520	Proptosis	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0100886	HP:0000490	Deeply set eye	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	4
HP:0100886	HP:0000316	Hypertelorism	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0100886	HP:0000490	Deeply set eye	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0100886	HP:0000316	Hypertelorism	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	.	6
HP:0100886	HP:0000490	Deeply set eye	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0100886	HP:0000316	Hypertelorism	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100886	HP:0000490	Deeply set eye	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100886	HP:0000316	Hypertelorism	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0100886	HP:0000520	Proptosis	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0100886	HP:0000316	Hypertelorism	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	5
HP:0100886	HP:0000490	Deeply set eye	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100886	HP:0000520	Proptosis	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100886	HP:0000316	Hypertelorism	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100886	HP:0000490	Deeply set eye	1	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0100886	HP:0000601	Hypotelorism	1	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0100886	HP:0000490	Deeply set eye	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0100886	HP:0000490	Deeply set eye	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0100886	HP:0000316	Hypertelorism	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0100886	HP:0000490	Deeply set eye	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0100886	HP:0000490	Deeply set eye	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent	12
HP:0100886	HP:0000490	Deeply set eye	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.	9
HP:0100886	HP:0000490	Deeply set eye	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040281 - Very frequent	9
HP:0100886	HP:0009914	Cyclopia	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0100886	HP:0000601	Hypotelorism	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	1
HP:0100886	HP:0009914	Cyclopia	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0100886	HP:0000520	Proptosis	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0100886	HP:0009914	Cyclopia	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0100886	HP:0000601	Hypotelorism	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	1
HP:0100886	HP:0000316	Hypertelorism	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0100886	HP:0000490	Deeply set eye	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0100886	HP:0000316	Hypertelorism	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.	110
HP:0100886	HP:0009914	Cyclopia	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0100886	HP:0000601	Hypotelorism	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	99
HP:0100886	HP:0009914	Cyclopia	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	99
HP:0100886	HP:0000601	Hypotelorism	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	99
HP:0100886	HP:0000601	Hypotelorism	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	99
HP:0100886	HP:0009914	Cyclopia	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0100886	HP:0000601	Hypotelorism	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	99
HP:0100886	HP:0009914	Cyclopia	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0100886	HP:0000490	Deeply set eye	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0100886	HP:0000601	Hypotelorism	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0100886	HP:0000490	Deeply set eye	1	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent	31
HP:0100886	HP:0000316	Hypertelorism	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0100886	HP:0000316	Hypertelorism	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0100886	HP:0000316	Hypertelorism	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	124
HP:0100886	HP:0000316	Hypertelorism	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.	124
HP:0100886	HP:0000520	Proptosis	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0100886	HP:0009914	Cyclopia	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0100886	HP:0000601	Hypotelorism	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	124
HP:0100886	HP:0000490	Deeply set eye	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0100886	HP:0000316	Hypertelorism	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0100886	HP:0000316	Hypertelorism	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0100886	HP:0000316	Hypertelorism	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1
HP:0100886	HP:0000490	Deeply set eye	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0100886	HP:0000316	Hypertelorism	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	6
HP:0100886	HP:0000316	Hypertelorism	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	34
HP:0100886	HP:0000490	Deeply set eye	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0100886	HP:0000316	Hypertelorism	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0100886	HP:0000520	Proptosis	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0100886	HP:0000490	Deeply set eye	1	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:0100886	HP:0000490	Deeply set eye	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0100886	HP:0000316	Hypertelorism	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0100886	HP:0000316	Hypertelorism	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0100886	HP:0000316	Hypertelorism	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0100886	HP:0000601	Hypotelorism	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0100886	HP:0000490	Deeply set eye	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0100886	HP:0000316	Hypertelorism	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0100886	HP:0000316	Hypertelorism	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0100886	HP:0000520	Proptosis	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	271
HP:0100886	HP:0000316	Hypertelorism	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional	16
HP:0100886	HP:0000316	Hypertelorism	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0100886	HP:0000490	Deeply set eye	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0100886	HP:0000316	Hypertelorism	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0100886	HP:0000490	Deeply set eye	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0100886	HP:0000316	Hypertelorism	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0100886	HP:0000490	Deeply set eye	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0100886	HP:0000490	Deeply set eye	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0100886	HP:0000490	Deeply set eye	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0100886	HP:0000490	Deeply set eye	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0100886	HP:0000316	Hypertelorism	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0100886	HP:0000316	Hypertelorism	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0100886	HP:0000490	Deeply set eye	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0100886	HP:0000316	Hypertelorism	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040282 - Frequent	1
HP:0100886	HP:0000316	Hypertelorism	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0100886	HP:0000316	Hypertelorism	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent	32
HP:0100886	HP:0000316	Hypertelorism	1	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	HP:0040283 - Occasional	32
HP:0100886	HP:0000316	Hypertelorism	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0100886	HP:0000520	Proptosis	1	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot	.	32
HP:0100886	HP:0000520	Proptosis	1	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	32
HP:0100886	HP:0000490	Deeply set eye	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0100886	HP:0000316	Hypertelorism	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0100886	HP:0000316	Hypertelorism	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0100886	HP:0000316	Hypertelorism	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0100886	HP:0000520	Proptosis	1	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	28
HP:0100886	HP:0000316	Hypertelorism	1	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional	28
HP:0100886	HP:0000490	Deeply set eye	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0100886	HP:0000316	Hypertelorism	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0100886	HP:0000316	Hypertelorism	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	2
HP:0100886	HP:0000490	Deeply set eye	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0100886	HP:0000490	Deeply set eye	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0100886	HP:0000316	Hypertelorism	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	82
HP:0100886	HP:0000316	Hypertelorism	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0100886	HP:0000316	Hypertelorism	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0100886	HP:0000316	Hypertelorism	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0100886	HP:0000316	Hypertelorism	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0100886	HP:0000316	Hypertelorism	1	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.	31
HP:0100886	HP:0000520	Proptosis	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0100886	HP:0000316	Hypertelorism	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0100886	HP:0000316	Hypertelorism	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0100886	HP:0009914	Cyclopia	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0100886	HP:0000601	Hypotelorism	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	1
HP:0100886	HP:0009914	Cyclopia	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	1
HP:0100886	HP:0000601	Hypotelorism	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	1
HP:0100886	HP:0009914	Cyclopia	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0100886	HP:0000601	Hypotelorism	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	1
HP:0100886	HP:0000601	Hypotelorism	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	1
HP:0100886	HP:0009914	Cyclopia	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0100886	HP:0009914	Cyclopia	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0100886	HP:0000601	Hypotelorism	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	1
HP:0100886	HP:0000316	Hypertelorism	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0100886	HP:0000316	Hypertelorism	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.	12
HP:0100886	HP:0000520	Proptosis	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0100886	HP:0000316	Hypertelorism	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0100886	HP:0000316	Hypertelorism	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040281 - Very frequent	104
HP:0100886	HP:0000316	Hypertelorism	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104
HP:0100886	HP:0000316	Hypertelorism	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0100886	HP:0000316	Hypertelorism	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6
HP:0100886	HP:0000520	Proptosis	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0100886	HP:0000520	Proptosis	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0100886	HP:0000316	Hypertelorism	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0100886	HP:0000316	Hypertelorism	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0100886	HP:0000316	Hypertelorism	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0100886	HP:0000316	Hypertelorism	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100886	HP:0000520	Proptosis	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100886	HP:0000316	Hypertelorism	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0100886	HP:0000316	Hypertelorism	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	239
HP:0100886	HP:0000520	Proptosis	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100886	HP:0000316	Hypertelorism	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100886	HP:0000316	Hypertelorism	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0100886	HP:0000316	Hypertelorism	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	253
HP:0100886	HP:0000520	Proptosis	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0100886	HP:0000316	Hypertelorism	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0100886	HP:0009914	Cyclopia	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0100886	HP:0000601	Hypotelorism	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0100886	HP:0000601	Hypotelorism	1	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.	32
HP:0100886	HP:0000601	Hypotelorism	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0100886	HP:0009914	Cyclopia	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	32
HP:0100886	HP:0000601	Hypotelorism	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	32
HP:0100886	HP:0009914	Cyclopia	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0100886	HP:0009914	Cyclopia	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0100886	HP:0000601	Hypotelorism	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	32
HP:0100886	HP:0009914	Cyclopia	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0100886	HP:0000601	Hypotelorism	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0100886	HP:0000316	Hypertelorism	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0100886	HP:0000490	Deeply set eye	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0100886	HP:0000490	Deeply set eye	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	1
HP:0100886	HP:0000316	Hypertelorism	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0100886	HP:0000520	Proptosis	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	.	161
HP:0100886	HP:0000316	Hypertelorism	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0100886	HP:0000316	Hypertelorism	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0100886	HP:0000316	Hypertelorism	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0100886	HP:0000316	Hypertelorism	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent	6
HP:0100886	HP:0000316	Hypertelorism	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0100886	HP:0000316	Hypertelorism	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0100886	HP:0000316	Hypertelorism	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0100886	HP:0000316	Hypertelorism	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0100886	HP:0000316	Hypertelorism	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0100886	HP:0000316	Hypertelorism	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0100886	HP:0000316	Hypertelorism	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0100886	HP:0000316	Hypertelorism	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0100886	HP:0000316	Hypertelorism	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0100886	HP:0000490	Deeply set eye	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0100886	HP:0000316	Hypertelorism	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0100886	HP:0000316	Hypertelorism	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0100886	HP:0000316	Hypertelorism	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0100886	HP:0000520	Proptosis	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0100886	HP:0000316	Hypertelorism	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.	166
HP:0100886	HP:0000316	Hypertelorism	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0100886	HP:0000490	Deeply set eye	1	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent	166
HP:0100886	HP:0000490	Deeply set eye	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0100886	HP:0000316	Hypertelorism	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0100886	HP:0000490	Deeply set eye	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0100886	HP:0000316	Hypertelorism	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	72
HP:0100886	HP:0000520	Proptosis	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0100886	HP:0000316	Hypertelorism	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0100886	HP:0000490	Deeply set eye	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0100886	HP:0000316	Hypertelorism	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0100886	HP:0000316	Hypertelorism	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61
HP:0100886	HP:0000601	Hypotelorism	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000316	Hypertelorism	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0100886	HP:0000316	Hypertelorism	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0100886	HP:0000316	Hypertelorism	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0100886	HP:0000316	Hypertelorism	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	108
HP:0100886	HP:0000316	Hypertelorism	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000601	Hypotelorism	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000490	Deeply set eye	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0100886	HP:0000316	Hypertelorism	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0100886	HP:0000520	Proptosis	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0100886	HP:0000316	Hypertelorism	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0100886	HP:0000601	Hypotelorism	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional	158
HP:0100886	HP:0000316	Hypertelorism	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional	158
HP:0100886	HP:0000316	Hypertelorism	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.	78
HP:0100886	HP:0000490	Deeply set eye	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0100886	HP:0000316	Hypertelorism	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0100886	HP:0000316	Hypertelorism	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0100886	HP:0000316	Hypertelorism	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.	2
HP:0100886	HP:0000490	Deeply set eye	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0100886	HP:0000316	Hypertelorism	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0100886	HP:0000601	Hypotelorism	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0100886	HP:0000490	Deeply set eye	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0100886	HP:0000601	Hypotelorism	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0100886	HP:0000316	Hypertelorism	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0100886	HP:0000520	Proptosis	1	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040283 - Occasional	97
HP:0100886	HP:0000520	Proptosis	1	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040284 - Very rare	97
HP:0100886	HP:0000316	Hypertelorism	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100886	HP:0000490	Deeply set eye	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0100886	HP:0000316	Hypertelorism	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0100886	HP:0000316	Hypertelorism	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040284 - Very rare	26
HP:0100886	HP:0000490	Deeply set eye	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.	11
HP:0100886	HP:0000490	Deeply set eye	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0100886	HP:0000316	Hypertelorism	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	106
HP:0100886	HP:0000316	Hypertelorism	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0100886	HP:0000520	Proptosis	1	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	18
HP:0100886	HP:0000316	Hypertelorism	1	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional	18
HP:0100886	HP:0000316	Hypertelorism	1	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.	18
HP:0100886	HP:0000520	Proptosis	1	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome		18
HP:0100886	HP:0000316	Hypertelorism	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0100886	HP:0000520	Proptosis	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0100886	HP:0000601	Hypotelorism	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18
HP:0100886	HP:0000316	Hypertelorism	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0100886	HP:0000316	Hypertelorism	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0100886	HP:0000316	Hypertelorism	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0100886	HP:0000316	Hypertelorism	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0100886	HP:0000316	Hypertelorism	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent	7
HP:0100886	HP:0000316	Hypertelorism	1	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0100886	HP:0000316	Hypertelorism	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome	HP:0040281 - Very frequent	19
HP:0100886	HP:0000316	Hypertelorism	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0100886	HP:0000490	Deeply set eye	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0100886	HP:0000316	Hypertelorism	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0100886	HP:0000316	Hypertelorism	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0100886	HP:0000520	Proptosis	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0100886	HP:0000316	Hypertelorism	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0100886	HP:0000490	Deeply set eye	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0100886	HP:0000316	Hypertelorism	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0100886	HP:0000490	Deeply set eye	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0100886	HP:0000316	Hypertelorism	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0100886	HP:0000316	Hypertelorism	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000490	Deeply set eye	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0100886	HP:0000316	Hypertelorism	1	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0100886	HP:0000316	Hypertelorism	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia	HP:0040283 - Occasional	8
HP:0100886	HP:0000601	Hypotelorism	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0100886	HP:0000316	Hypertelorism	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0100886	HP:0000520	Proptosis	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0100886	HP:0000520	Proptosis	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent	2
HP:0100886	HP:0000316	Hypertelorism	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0100886	HP:0000316	Hypertelorism	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0100886	HP:0000316	Hypertelorism	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome	.	47
HP:0100886	HP:0000316	Hypertelorism	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.	20
HP:0100886	HP:0000490	Deeply set eye	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0100886	HP:0000490	Deeply set eye	1	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:0100886	HP:0000490	Deeply set eye	1	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:0100886	HP:0000316	Hypertelorism	1	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:0100886	HP:0000316	Hypertelorism	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0100886	HP:0000520	Proptosis	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0100886	HP:0000490	Deeply set eye	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0100886	HP:0000316	Hypertelorism	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0100886	HP:0000316	Hypertelorism	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0100886	HP:0000316	Hypertelorism	1	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	HP:0040283 - Occasional	60
HP:0100886	HP:0000316	Hypertelorism	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	10
HP:0100886	HP:0000601	Hypotelorism	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	95
HP:0100886	HP:0000601	Hypotelorism	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	136
HP:0100886	HP:0000316	Hypertelorism	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0100886	HP:0000316	Hypertelorism	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0100886	HP:0000316	Hypertelorism	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000601	Hypotelorism	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0100886	HP:0000520	Proptosis	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0100886	HP:0000316	Hypertelorism	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	14
HP:0100886	HP:0000601	Hypotelorism	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	14
HP:0100886	HP:0000316	Hypertelorism	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0100886	HP:0000520	Proptosis	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0100886	HP:0000316	Hypertelorism	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	98
HP:0100886	HP:0000520	Proptosis	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0100886	HP:0000316	Hypertelorism	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0100886	HP:0000316	Hypertelorism	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0100886	HP:0000520	Proptosis	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0100886	HP:0000316	Hypertelorism	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0100886	HP:0000601	Hypotelorism	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0100886	HP:0000490	Deeply set eye	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0100886	HP:0000520	Proptosis	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0100886	HP:0000520	Proptosis	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0100886	HP:0000520	Proptosis	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040283 - Occasional	14
HP:0100886	HP:0000316	Hypertelorism	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent	5
HP:0100886	HP:0000490	Deeply set eye	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0100886	HP:0000316	Hypertelorism	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent	14
HP:0100886	HP:0000316	Hypertelorism	1	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent	16
HP:0100886	HP:0000316	Hypertelorism	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.	16
HP:0100886	HP:0000490	Deeply set eye	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0100886	HP:0000316	Hypertelorism	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	9
HP:0100886	HP:0000316	Hypertelorism	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0100886	HP:0000490	Deeply set eye	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0100886	HP:0000316	Hypertelorism	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0100886	HP:0000490	Deeply set eye	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0100886	HP:0000490	Deeply set eye	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0100886	HP:0000316	Hypertelorism	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0100886	HP:0000316	Hypertelorism	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0100886	HP:0000490	Deeply set eye	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0100886	HP:0000520	Proptosis	1	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot	.	31
HP:0100886	HP:0000520	Proptosis	1	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	31
HP:0100886	HP:0000316	Hypertelorism	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	.	5
HP:0100886	HP:0000316	Hypertelorism	1	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional	5
HP:0100886	HP:0000520	Proptosis	1	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	5
HP:0100886	HP:0009914	Cyclopia	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0100886	HP:0000601	Hypotelorism	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	34
HP:0100886	HP:0000601	Hypotelorism	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0100886	HP:0000316	Hypertelorism	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0100886	HP:0000601	Hypotelorism	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	34
HP:0100886	HP:0009914	Cyclopia	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	34
HP:0100886	HP:0009914	Cyclopia	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0100886	HP:0000601	Hypotelorism	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	34
HP:0100886	HP:0000601	Hypotelorism	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	34
HP:0100886	HP:0009914	Cyclopia	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0100886	HP:0000601	Hypotelorism	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	34
HP:0100886	HP:0009914	Cyclopia	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0100886	HP:0000316	Hypertelorism	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39
HP:0100886	HP:0000316	Hypertelorism	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0100886	HP:0000520	Proptosis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0100886	HP:0000520	Proptosis	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0100886	HP:0000520	Proptosis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83
HP:0100886	HP:0000316	Hypertelorism	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0100886	HP:0000316	Hypertelorism	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0100886	HP:0000316	Hypertelorism	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0100886	HP:0000316	Hypertelorism	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.	24
HP:0100886	HP:0000316	Hypertelorism	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0100886	HP:0000316	Hypertelorism	1	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0100886	HP:0000520	Proptosis	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100886	HP:0000316	Hypertelorism	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100886	HP:0000601	Hypotelorism	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100886	HP:0000490	Deeply set eye	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0100886	HP:0000316	Hypertelorism	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0100886	HP:0000316	Hypertelorism	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0100886	HP:0000586	Shallow orbits	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0100886	HP:0000586	Shallow orbits	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0100886	HP:0000586	Shallow orbits	2	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0100886	HP:0000586	Shallow orbits	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0100886	HP:0000586	Shallow orbits	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0100886	HP:0000586	Shallow orbits	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0100886	HP:0000586	Shallow orbits	2	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0100886	HP:0000586	Shallow orbits	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0100886	HP:0000586	Shallow orbits	2	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0100886	HP:0000586	Shallow orbits	2	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0100886	HP:0000586	Shallow orbits	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0100886	HP:0000586	Shallow orbits	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0100886	HP:0000586	Shallow orbits	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0100886	HP:0000586	Shallow orbits	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0100886	HP:0000586	Shallow orbits	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0100886	HP:0000586	Shallow orbits	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0100886	HP:0000586	Shallow orbits	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0100886	HP:0000586	Shallow orbits	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0100886	HP:0000586	Shallow orbits	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0100886	HP:0000586	Shallow orbits	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0100886	HP:0000586	Shallow orbits	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0100886	HP:0000586	Shallow orbits	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0100886	HP:0000586	Shallow orbits	2	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:0100886	HP:0000586	Shallow orbits	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0100886	HP:0000586	Shallow orbits	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0100886	HP:0000586	Shallow orbits	2	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:0100886	HP:0000586	Shallow orbits	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0100886	HP:0000586	Shallow orbits	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0100886	HP:0000586	Shallow orbits	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0100886	HP:0000586	Shallow orbits	2	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0100886	HP:0000586	Shallow orbits	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0100886	HP:0000586	Shallow orbits	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0100886	HP:0000586	Shallow orbits	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0100886	HP:0000586	Shallow orbits	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0100886	HP:0000586	Shallow orbits	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0100886	HP:0000586	Shallow orbits	2	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.	18
HP:0100886	HP:0000586	Shallow orbits	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0100886	HP:0000586	Shallow orbits	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83