Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease		826
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ABCB6 CL E G H	10058	47	OMIM:614497	Microphthalmia, isolated, with coloboma 7		20
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos		10
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency		35
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome		101
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos		182
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY		182
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies		38
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma		7642
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease		58
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type		118
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy		227
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CRB1 CL E G H	23418	2343	ORPHA:35612	Nanophthalmos		156
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types		33
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy		88
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9		108
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54		29
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma		164
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease		62
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome		20
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome		106
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B		54
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome		83
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome		199
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation		37
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome		18
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome		172
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum		172
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia		63
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome		20
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2		23
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FOXE3 CL E G H	2301	3808	ORPHA:83461	Congenital primary aphakia		23
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis		92
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome		198
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FREM2 CL E G H	341640	25396	OMIM:123570	Cryptophthalmos, unilateral or bilateral, isolated		263
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy		109
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GDF3 CL E G H	9573	4218	OMIM:613704	Microphthalmia, isolated 7		7
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GDF6 CL E G H	392255	4221	OMIM:613094	MICROPHTHALMIA, ISOLATED 4; MCOP4		64
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma		73
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism		64
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum		21
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia		21
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	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:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	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:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		177
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2		8
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy		125
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome		125
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome		125
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma		123
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3		123
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome		132
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5		26
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MFRP CL E G H	83552	18121	ORPHA:35612	Nanophthalmos		26
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MFRP CL E G H	83552	18121	OMIM:609549	Nanophthalmos 2		26
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A		91
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease		35
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NDP CL E G H	4693	7678	ORPHA:190	Coats disease		39
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease		39
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease		39
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy		52
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome		88
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome		37
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	OTX2 CL E G H	5015	8522	ORPHA:35612	Nanophthalmos		41
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum		41
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome		11
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease		72
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease		45
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4		51
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types		6
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2		11
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8		33
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12		18
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum		34
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease		110
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease		159
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PRSS56 CL E G H	646960	39433	OMIM:613517	Microphthalmia, isolated 6		11
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PRSS56 CL E G H	646960	39433	ORPHA:35612	Nanophthalmos		11
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAX CL E G H	30062	18662	OMIM:611038	Microphthalmia, isolated 3		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RAX CL E G H	30062	18662	ORPHA:35612	Nanophthalmos		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14		365
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10		8
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma		7
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome		11
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5		167
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures		113
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy		1053
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5		67
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SIX6 CL E G H	4990	10892	ORPHA:35612	Nanophthalmos		20
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy		20
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI		12
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6		12
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy		255
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy		29
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome		22
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome		33
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SOX2 CL E G H	6657	11195	ORPHA:35612	Nanophthalmos		33
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum		33
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum		24
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1		6
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10		31
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SYCE1 CL E G H	93426	28852	OMIM:616947	PREMATURE OVARIAN FAILURE 12; POF12		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy		108
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040283 - Occasional	52
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8		76
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9		12
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM98 CL E G H	26022	24529	ORPHA:35612	Nanophthalmos		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4		3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation		140
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia		1
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia		21
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3		14
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1		61
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	VSX2 CL E G H	338917	1975	OMIM:610093	MICROPHTHALMIA, ISOLATED 2; MCOP2		66
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	VSX2 CL E G H	338917	1975	OMIM:610092	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3		66
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation		4
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma		177
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome		177
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability		2
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy		14
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0008056	HP:0008056	Aplasia/Hypoplasia affecting the eye	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease		826
HP:0008056	HP:0000568	Microphthalmia	1	ABCB6 CL E G H	10058	47	OMIM:614497	Microphthalmia, isolated, with coloboma 7	HP:0040283 - Occasional	20
HP:0008056	HP:0000568	Microphthalmia	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	HP:0040283 - Occasional	72
HP:0008056	HP:0000568	Microphthalmia	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	HP:0040283 - Occasional	123
HP:0008056	HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0008056	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008056	HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0008056	HP:0000528	Anophthalmia	1	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0008056	HP:0000568	Microphthalmia	1	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8	.	10
HP:0008056	HP:0000568	Microphthalmia	1	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	10
HP:0008056	HP:0000568	Microphthalmia	1	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0008056	HP:0000568	Microphthalmia	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0008056	HP:0000568	Microphthalmia	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0008056	HP:0000568	Microphthalmia	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0008056	HP:0000568	Microphthalmia	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0008056	HP:0000568	Microphthalmia	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0008056	HP:0000568	Microphthalmia	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0008056	HP:0000568	Microphthalmia	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0008056	HP:0000568	Microphthalmia	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	147
HP:0008056	HP:0000568	Microphthalmia	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0008056	HP:0000568	Microphthalmia	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0008056	HP:0000568	Microphthalmia	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0008056	HP:0000568	Microphthalmia	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	HP:0040283 - Occasional	4
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome		5
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0008056	HP:0000568	Microphthalmia	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0008056	HP:0000568	Microphthalmia	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0008056	HP:0000568	Microphthalmia	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.	4
HP:0008056	HP:0000568	Microphthalmia	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0008056	HP:0008057	Aplasia/Hypoplasia affecting the fundus	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0008056	HP:0000528	Anophthalmia	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0008056	HP:0000568	Microphthalmia	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0008056	HP:0000528	Anophthalmia	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0008056	HP:0000568	Microphthalmia	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0008056	HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0008056	HP:0000568	Microphthalmia	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0008056	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0008056	HP:0000528	Anophthalmia	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0008056	HP:0000528	Anophthalmia	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0008056	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0008056	HP:0000568	Microphthalmia	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0008056	HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0008056	HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008056	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008056	HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008056	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008056	HP:0000568	Microphthalmia	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040281 - Very frequent	101
HP:0008056	HP:0000528	Anophthalmia	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0008056	HP:0000568	Microphthalmia	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0008056	HP:0000568	Microphthalmia	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0008056	HP:0000528	Anophthalmia	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0008056	HP:0000568	Microphthalmia	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040281 - Very frequent	101
HP:0008056	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome		5
HP:0008056	HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome		5
HP:0008056	HP:0000568	Microphthalmia	1	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	182
HP:0008056	HP:0000568	Microphthalmia	1	BEST1 CL E