Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	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	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	120
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	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	OMIM:218340	Temtamy syndrome	13
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	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	ORPHA:138	CHARGE syndrome	515
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: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	OMIM:154780	Marshall syndrome	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	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	OMIM:194190	Wolf-Hirschhorn 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	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	OMIM:270400	Smith-Lemli-Opitz syndrome	159
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	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	ORPHA:87	Apert syndrome	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	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	ORPHA:794	Saethre-Chotzen syndrome	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	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	ORPHA:3472	Yunis-Varon syndrome	111
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	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	OMIM:309350	Melnick-Needles syndrome	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	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	OMIM:219000	Fraser syndrome	353
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	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	OMIM:187500	Tetralogy of Fallot	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	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	OMIM:269921	SIALURIA	173
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	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	ORPHA:1515	Cranioectodermal dysplasia	93
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	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