Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Parent Node:
Abnormality of globe size (HP:0100887)

Parent Node:
Aplasia/Hypoplasia affecting the eye (HP:0008056)

..Starting node
..Microphthalmia (HP:0000568)

Term ID:

568

Name:

Microphthalmia

Synonym:

Abnormally small eyeball; Abnormally small globe of eye; Decreased size of eyeball; Decreased size of globe of eye; Microphthalmos; Nanophthalmos

Definition:

A developmental anomaly characterized by abnormal smallness of one or both eyes.

Comments:

Reference:

HP:0000568

Genes and Diseases:

Child Nodes:

........

Bilateral microphthalmos (HP:0007633)

........

Unilateral microphthalmos (HP:0011480)

Sister Nodes:

Anophthalmia (HP:0000528)

Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)

Aplasia/Hypoplasia affecting the fundus (HP:0008057)

Aplasia/Hypoplasia affecting the uvea (HP:0008055)

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:0000568	HP:0000568	Microphthalmia	0	ABCB6 CL E G H	10058	47	OMIM:614497	Microphthalmia, isolated, with coloboma 7	HP:0040283 - Occasional	20
HP:0000568	HP:0000568	Microphthalmia	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	HP:0040283 - Occasional	72
HP:0000568	HP:0000568	Microphthalmia	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	HP:0040283 - Occasional	123
HP:0000568	HP:0000568	Microphthalmia	0	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8	.	10
HP:0000568	HP:0000568	Microphthalmia	0	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	10
HP:0000568	HP:0000568	Microphthalmia	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0000568	HP:0000568	Microphthalmia	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0000568	HP:0000568	Microphthalmia	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0000568	HP:0000568	Microphthalmia	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0000568	HP:0000568	Microphthalmia	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0000568	HP:0000568	Microphthalmia	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000568	HP:0000568	Microphthalmia	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0000568	HP:0000568	Microphthalmia	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0000568	HP:0000568	Microphthalmia	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	147
HP:0000568	HP:0000568	Microphthalmia	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0000568	HP:0000568	Microphthalmia	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000568	HP:0000568	Microphthalmia	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0000568	HP:0000568	Microphthalmia	0	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:0000568	HP:0000568	Microphthalmia	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0000568	HP:0000568	Microphthalmia	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0000568	HP:0000568	Microphthalmia	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.	4
HP:0000568	HP:0000568	Microphthalmia	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0000568	HP:0000568	Microphthalmia	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0000568	HP:0000568	Microphthalmia	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0000568	HP:0000568	Microphthalmia	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0000568	HP:0000568	Microphthalmia	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0000568	HP:0000568	Microphthalmia	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040281 - Very frequent	101
HP:0000568	HP:0000568	Microphthalmia	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000568	HP:0000568	Microphthalmia	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000568	HP:0000568	Microphthalmia	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040281 - Very frequent	101
HP:0000568	HP:0000568	Microphthalmia	0	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	182
HP:0000568	HP:0000568	Microphthalmia	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	HP:0040283 - Occasional	182
HP:0000568	HP:0000568	Microphthalmia	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040281 - Very frequent	38
HP:0000568	HP:0000568	Microphthalmia	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000568	HP:0000568	Microphthalmia	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000568	HP:0000568	Microphthalmia	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0000568	HP:0000568	Microphthalmia	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000568	HP:0000568	Microphthalmia	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000568	HP:0000568	Microphthalmia	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0000568	HP:0000568	Microphthalmia	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	5
HP:0000568	HP:0000568	Microphthalmia	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	76
HP:0000568	HP:0000568	Microphthalmia	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0000568	HP:0000568	Microphthalmia	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040283 - Occasional	13
HP:0000568	HP:0000568	Microphthalmia	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000568	HP:0000568	Microphthalmia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000568	HP:0000568	Microphthalmia	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0000568	HP:0000568	Microphthalmia	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0000568	HP:0000568	Microphthalmia	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0000568	HP:0000568	Microphthalmia	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0000568	HP:0000568	Microphthalmia	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	HP:0040283 - Occasional	342
HP:0000568	HP:0000568	Microphthalmia	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	17
HP:0000568	HP:0000568	Microphthalmia	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0000568	HP:0000568	Microphthalmia	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000568	HP:0000568	Microphthalmia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000568	HP:0000568	Microphthalmia	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000568	HP:0000568	Microphthalmia	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	HP:0040284 - Very rare	193
HP:0000568	HP:0000568	Microphthalmia	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0000568	HP:0000568	Microphthalmia	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000568	HP:0000568	Microphthalmia	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0000568	HP:0000568	Microphthalmia	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	6
HP:0000568	HP:0000568	Microphthalmia	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0000568	HP:0000568	Microphthalmia	0	CRB1 CL E G H	23418	2343	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	156
HP:0000568	HP:0000568	Microphthalmia	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000568	HP:0000568	Microphthalmia	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0000568	HP:0000568	Microphthalmia	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	HP:0040283 - Occasional	33
HP:0000568	HP:0000568	Microphthalmia	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0000568	HP:0000568	Microphthalmia	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040282 - Frequent	17
HP:0000568	HP:0000568	Microphthalmia	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0000568	HP:0000568	Microphthalmia	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0000568	HP:0000568	Microphthalmia	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000568	HP:0000568	Microphthalmia	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0000568	HP:0000568	Microphthalmia	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0000568	HP:0000568	Microphthalmia	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	9
HP:0000568	HP:0000568	Microphthalmia	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	18
HP:0000568	HP:0000568	Microphthalmia	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional	18
HP:0000568	HP:0000568	Microphthalmia	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0000568	HP:0000568	Microphthalmia	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.	144
HP:0000568	HP:0000568	Microphthalmia	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0000568	HP:0000568	Microphthalmia	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0000568	HP:0000568	Microphthalmia	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040283 - Occasional	51
HP:0000568	HP:0000568	Microphthalmia	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	4
HP:0000568	HP:0000568	Microphthalmia	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0000568	HP:0000568	Microphthalmia	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0000568	HP:0000568	Microphthalmia	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0000568	HP:0000568	Microphthalmia	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0000568	HP:0000568	Microphthalmia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0000568	HP:0000568	Microphthalmia	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	HP:0040283 - Occasional	106
HP:0000568	HP:0000568	Microphthalmia	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0000568	HP:0000568	Microphthalmia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0000568	HP:0000568	Microphthalmia	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0000568	HP:0000568	Microphthalmia	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000568	HP:0000568	Microphthalmia	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	HP:0040283 - Occasional	83
HP:0000568	HP:0000568	Microphthalmia	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0000568	HP:0000568	Microphthalmia	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G	HP:0040283 - Occasional	83
HP:0000568	HP:0000568	Microphthalmia	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0000568	HP:0000568	Microphthalmia	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0000568	HP:0000568	Microphthalmia	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000568	HP:0000568	Microphthalmia	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0000568	HP:0000568	Microphthalmia	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0000568	HP:0000568	Microphthalmia	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional	92
HP:0000568	HP:0000568	Microphthalmia	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000568	HP:0000568	Microphthalmia	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0000568	HP:0000568	Microphthalmia	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0000568	HP:0000568	Microphthalmia	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0000568	HP:0000568	Microphthalmia	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0000568	HP:0000568	Microphthalmia	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000568	HP:0000568	Microphthalmia	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000568	HP:0000568	Microphthalmia	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0000568	HP:0000568	Microphthalmia	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000568	HP:0000568	Microphthalmia	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0000568	HP:0000568	Microphthalmia	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000568	HP:0000568	Microphthalmia	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000568	HP:0000568	Microphthalmia	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000568	HP:0000568	Microphthalmia	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0000568	HP:0000568	Microphthalmia	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000568	HP:0000568	Microphthalmia	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000568	HP:0000568	Microphthalmia	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000568	HP:0000568	Microphthalmia	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0000568	HP:0000568	Microphthalmia	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000568	HP:0000568	Microphthalmia	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0000568	HP:0000568	Microphthalmia	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000568	HP:0000568	Microphthalmia	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0000568	HP:0000568	Microphthalmia	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000568	HP:0000568	Microphthalmia	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000568	HP:0000568	Microphthalmia	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040283 - Occasional	18
HP:0000568	HP:0000568	Microphthalmia	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0000568	HP:0000568	Microphthalmia	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent	172
HP:0000568	HP:0000568	Microphthalmia	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0000568	HP:0000568	Microphthalmia	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare	157
HP:0000568	HP:0000568	Microphthalmia	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000568	HP:0000568	Microphthalmia	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0000568	HP:0000568	Microphthalmia	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0000568	HP:0000568	Microphthalmia	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000568	HP:0000568	Microphthalmia	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0000568	HP:0000568	Microphthalmia	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0000568	HP:0000568	Microphthalmia	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome		20
HP:0000568	HP:0000568	Microphthalmia	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2	.	23
HP:0000568	HP:0000568	Microphthalmia	0	FOXE3 CL E G H	2301	3808	ORPHA:83461	Congenital primary aphakia	HP:0040281 - Very frequent	23
HP:0000568	HP:0000568	Microphthalmia	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0000568	HP:0000568	Microphthalmia	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000568	HP:0000568	Microphthalmia	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0000568	HP:0000568	Microphthalmia	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0000568	HP:0000568	Microphthalmia	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040283 - Occasional	198
HP:0000568	HP:0000568	Microphthalmia	0	FREM2 CL E G H	341640	25396	OMIM:123570	Cryptophthalmos, unilateral or bilateral, isolated	.	263
HP:0000568	HP:0000568	Microphthalmia	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0000568	HP:0000568	Microphthalmia	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0000568	HP:0000568	Microphthalmia	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0000568	HP:0000568	Microphthalmia	0	GDF3 CL E G H	9573	4218	OMIM:613704	Microphthalmia, isolated 7	.	7
HP:0000568	HP:0000568	Microphthalmia	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0000568	HP:0000568	Microphthalmia	0	GDF6 CL E G H	392255	4221	OMIM:613094	MICROPHTHALMIA, ISOLATED 4; MCOP4		64
HP:0000568	HP:0000568	Microphthalmia	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0000568	HP:0000568	Microphthalmia	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0000568	HP:0000568	Microphthalmia	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000568	HP:0000568	Microphthalmia	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000568	HP:0000568	Microphthalmia	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000568	HP:0000568	Microphthalmia	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.	173
HP:0000568	HP:0000568	Microphthalmia	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0000568	HP:0000568	Microphthalmia	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000568	HP:0000568	Microphthalmia	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare	34
HP:0000568	HP:0000568	Microphthalmia	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000568	HP:0000568	Microphthalmia	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0000568	HP:0000568	Microphthalmia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0000568	HP:0000568	Microphthalmia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0000568	HP:0000568	Microphthalmia	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000568	HP:0000568	Microphthalmia	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	11
HP:0000568	HP:0000568	Microphthalmia	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0000568	HP:0000568	Microphthalmia	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0000568	HP:0000568	Microphthalmia	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent	2
HP:0000568	HP:0000568	Microphthalmia	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000568	HP:0000568	Microphthalmia	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.	2
HP:0000568	HP:0000568	Microphthalmia	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	.	2
HP:0000568	HP:0000568	Microphthalmia	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0000568	HP:0000568	Microphthalmia	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040283 - Occasional	31
HP:0000568	HP:0000568	Microphthalmia	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0000568	HP:0000568	Microphthalmia	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0000568	HP:0000568	Microphthalmia	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0000568	HP:0000568	Microphthalmia	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000568	HP:0000568	Microphthalmia	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000568	HP:0000568	Microphthalmia	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts		4
HP:0000568	HP:0000568	Microphthalmia	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000568	HP:0000568	Microphthalmia	0	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2		8
HP:0000568	HP:0000568	Microphthalmia	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0000568	HP:0000568	Microphthalmia	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0000568	HP:0000568	Microphthalmia	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.	9
HP:0000568	HP:0000568	Microphthalmia	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000568	HP:0000568	Microphthalmia	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040283 - Occasional	167
HP:0000568	HP:0000568	Microphthalmia	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0000568	HP:0000568	Microphthalmia	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0000568	HP:0000568	Microphthalmia	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000568	HP:0000568	Microphthalmia	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0000568	HP:0000568	Microphthalmia	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000568	HP:0000568	Microphthalmia	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0000568	HP:0000568	Microphthalmia	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0000568	HP:0000568	Microphthalmia	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional	125
HP:0000568	HP:0000568	Microphthalmia	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.	5
HP:0000568	HP:0000568	Microphthalmia	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000568	HP:0000568	Microphthalmia	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0000568	HP:0000568	Microphthalmia	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0000568	HP:0000568	Microphthalmia	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0000568	HP:0000568	Microphthalmia	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000568	HP:0000568	Microphthalmia	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0000568	HP:0000568	Microphthalmia	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0000568	HP:0000568	Microphthalmia	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0000568	HP:0000568	Microphthalmia	0	MFRP CL E G H	83552	18121	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	26
HP:0000568	HP:0000568	Microphthalmia	0	MFRP CL E G H	83552	18121	OMIM:609549	Nanophthalmos 2	.	26
HP:0000568	HP:0000568	Microphthalmia	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:0000568	HP:0000568	Microphthalmia	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0000568	HP:0000568	Microphthalmia	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000568	HP:0000568	Microphthalmia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0000568	HP:0000568	Microphthalmia	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0000568	HP:0000568	Microphthalmia	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040281 - Very frequent	23
HP:0000568	HP:0000568	Microphthalmia	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000568	HP:0000568	Microphthalmia	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	HP:0040283 - Occasional	39
HP:0000568	HP:0000568	Microphthalmia	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0000568	HP:0000568	Microphthalmia	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.	39
HP:0000568	HP:0000568	Microphthalmia	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0000568	HP:0000568	Microphthalmia	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0000568	HP:0000568	Microphthalmia	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	3
HP:0000568	HP:0000568	Microphthalmia	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0000568	HP:0000568	Microphthalmia	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0000568	HP:0000568	Microphthalmia	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0000568	HP:0000568	Microphthalmia	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040283 - Occasional	88
HP:0000568	HP:0000568	Microphthalmia	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	452
HP:0000568	HP:0000568	Microphthalmia	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0000568	HP:0000568	Microphthalmia	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000568	HP:0000568	Microphthalmia	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0000568	HP:0000568	Microphthalmia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000568	HP:0000568	Microphthalmia	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000568	HP:0000568	Microphthalmia	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	.	41
HP:0000568	HP:0000568	Microphthalmia	0	OTX2 CL E G H	5015	8522	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	41
HP:0000568	HP:0000568	Microphthalmia	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000568	HP:0000568	Microphthalmia	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0000568	HP:0000568	Microphthalmia	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.	194
HP:0000568	HP:0000568	Microphthalmia	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0000568	HP:0000568	Microphthalmia	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0000568	HP:0000568	Microphthalmia	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0000568	HP:0000568	Microphthalmia	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0000568	HP:0000568	Microphthalmia	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0000568	HP:0000568	Microphthalmia	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040283 - Occasional	72
HP:0000568	HP:0000568	Microphthalmia	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0000568	HP:0000568	Microphthalmia	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040283 - Occasional	45
HP:0000568	HP:0000568	Microphthalmia	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000568	HP:0000568	Microphthalmia	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0000568	HP:0000568	Microphthalmia	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0000568	HP:0000568	Microphthalmia	0	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types	.	6
HP:0000568	HP:0000568	Microphthalmia	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.	11
HP:0000568	HP:0000568	Microphthalmia	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0000568	HP:0000568	Microphthalmia	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0000568	HP:0000568	Microphthalmia	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0000568	HP:0000568	Microphthalmia	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare	180
HP:0000568	HP:0000568	Microphthalmia	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0000568	HP:0000568	Microphthalmia	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0000568	HP:0000568	Microphthalmia	0	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8	.	33
HP:0000568	HP:0000568	Microphthalmia	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0000568	HP:0000568	Microphthalmia	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare	18
HP:0000568	HP:0000568	Microphthalmia	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.	18
HP:0000568	HP:0000568	Microphthalmia	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0000568	HP:0000568	Microphthalmia	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare	213
HP:0000568	HP:0000568	Microphthalmia	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0000568	HP:0000568	Microphthalmia	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0000568	HP:0000568	Microphthalmia	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare	221
HP:0000568	HP:0000568	Microphthalmia	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0000568	HP:0000568	Microphthalmia	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0000568	HP:0000568	Microphthalmia	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0000568	HP:0000568	Microphthalmia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000568	HP:0000568	Microphthalmia	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0000568	HP:0000568	Microphthalmia	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	HP:0040283 - Occasional	28
HP:0000568	HP:0000568	Microphthalmia	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000568	HP:0000568	Microphthalmia	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000568	HP:0000568	Microphthalmia	0	PRSS56 CL E G H	646960	39433	OMIM:613517	Microphthalmia, isolated 6	.	11
HP:0000568	HP:0000568	Microphthalmia	0	PRSS56 CL E G H	646960	39433	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	11
HP:0000568	HP:0000568	Microphthalmia	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0000568	HP:0000568	Microphthalmia	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000568	HP:0000568	Microphthalmia	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0000568	HP:0000568	Microphthalmia	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0000568	HP:0000568	Microphthalmia	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0000568	HP:0000568	Microphthalmia	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0000568	HP:0000568	Microphthalmia	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	85
HP:0000568	HP:0000568	Microphthalmia	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0000568	HP:0000568	Microphthalmia	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	90
HP:0000568	HP:0000568	Microphthalmia	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000568	HP:0000568	Microphthalmia	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000568	HP:0000568	Microphthalmia	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	135
HP:0000568	HP:0000568	Microphthalmia	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0000568	HP:0000568	Microphthalmia	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000568	HP:0000568	Microphthalmia	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000568	HP:0000568	Microphthalmia	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040281 - Very frequent	9
HP:0000568	HP:0000568	Microphthalmia	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.	9
HP:0000568	HP:0000568	Microphthalmia	0	RAX CL E G H	30062	18662	OMIM:611038	Microphthalmia, isolated 3	.	43
HP:0000568	HP:0000568	Microphthalmia	0	RAX CL E G H	30062	18662	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	43
HP:0000568	HP:0000568	Microphthalmia	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent	365
HP:0000568	HP:0000568	Microphthalmia	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2	.	68
HP:0000568	HP:0000568	Microphthalmia	0	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10	.	8
HP:0000568	HP:0000568	Microphthalmia	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	3
HP:0000568	HP:0000568	Microphthalmia	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000568	HP:0000568	Microphthalmia	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000568	HP:0000568	Microphthalmia	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000568	HP:0000568	Microphthalmia	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000568	HP:0000568	Microphthalmia	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000568	HP:0000568	Microphthalmia	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	HP:0040283 - Occasional	69
HP:0000568	HP:0000568	Microphthalmia	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0000568	HP:0000568	Microphthalmia	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0000568	HP:0000568	Microphthalmia	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0000568	HP:0000568	Microphthalmia	0	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5	.	167
HP:0000568	HP:0000568	Microphthalmia	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000568	HP:0000568	Microphthalmia	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0000568	HP:0000568	Microphthalmia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000568	HP:0000568	Microphthalmia	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures	HP:0040284 - Very rare	113
HP:0000568	HP:0000568	Microphthalmia	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0000568	HP:0000568	Microphthalmia	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000568	HP:0000568	Microphthalmia	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0000568	HP:0000568	Microphthalmia	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000568	HP:0000568	Microphthalmia	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0000568	HP:0000568	Microphthalmia	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000568	HP:0000568	Microphthalmia	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000568	HP:0000568	Microphthalmia	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0000568	HP:0000568	Microphthalmia	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000568	HP:0000568	Microphthalmia	0	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5	HP:0040281 - Very frequent	67
HP:0000568	HP:0000568	Microphthalmia	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0000568	HP:0000568	Microphthalmia	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000568	HP:0000568	Microphthalmia	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0000568	HP:0000568	Microphthalmia	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0000568	HP:0000568	Microphthalmia	0	SIX6 CL E G H	4990	10892	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	20
HP:0000568	HP:0000568	Microphthalmia	0	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	.	20
HP:0000568	HP:0000568	Microphthalmia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000568	HP:0000568	Microphthalmia	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0000568	HP:0000568	Microphthalmia	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	HP:0040283 - Occasional	13
HP:0000568	HP:0000568	Microphthalmia	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0000568	HP:0000568	Microphthalmia	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000568	HP:0000568	Microphthalmia	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	HP:0040283 - Occasional	504
HP:0000568	HP:0000568	Microphthalmia	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0000568	HP:0000568	Microphthalmia	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	.	174
HP:0000568	HP:0000568	Microphthalmia	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent	174
HP:0000568	HP:0000568	Microphthalmia	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000568	HP:0000568	Microphthalmia	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040282 - Frequent	22
HP:0000568	HP:0000568	Microphthalmia	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	.	22
HP:0000568	HP:0000568	Microphthalmia	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0000568	HP:0000568	Microphthalmia	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040281 - Very frequent	15
HP:0000568	HP:0000568	Microphthalmia	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040281 - Very frequent	33
HP:0000568	HP:0000568	Microphthalmia	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0000568	HP:0000568	Microphthalmia	0	SOX2 CL E G H	6657	11195	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	33
HP:0000568	HP:0000568	Microphthalmia	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1		6
HP:0000568	HP:0000568	Microphthalmia	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0000568	HP:0000568	Microphthalmia	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040281 - Very frequent	71
HP:0000568	HP:0000568	Microphthalmia	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0000568	HP:0000568	Microphthalmia	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0000568	HP:0000568	Microphthalmia	0	SYCE1 CL E G H	93426	28852	OMIM:616947	PREMATURE OVARIAN FAILURE 12; POF12		4
HP:0000568	HP:0000568	Microphthalmia	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0000568	HP:0000568	Microphthalmia	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000568	HP:0000568	Microphthalmia	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	15
HP:0000568	HP:0000568	Microphthalmia	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0000568	HP:0000568	Microphthalmia	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000568	HP:0000568	Microphthalmia	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0000568	HP:0000568	Microphthalmia	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040282 - Frequent	1
HP:0000568	HP:0000568	Microphthalmia	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000568	HP:0000568	Microphthalmia	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0000568	HP:0000568	Microphthalmia	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000568	HP:0000568	Microphthalmia	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0000568	HP:0000568	Microphthalmia	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000568	HP:0000568	Microphthalmia	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0000568	HP:0000568	Microphthalmia	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.	76
HP:0000568	HP:0000568	Microphthalmia	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0000568	HP:0000568	Microphthalmia	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.	12
HP:0000568	HP:0000568	Microphthalmia	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000568	HP:0000568	Microphthalmia	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0000568	HP:0000568	Microphthalmia	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0000568	HP:0000568	Microphthalmia	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0000568	HP:0000568	Microphthalmia	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000568	HP:0000568	Microphthalmia	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	HP:0040283 - Occasional	45
HP:0000568	HP:0000568	Microphthalmia	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0000568	HP:0000568	Microphthalmia	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0000568	HP:0000568	Microphthalmia	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0000568	HP:0000568	Microphthalmia	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0000568	HP:0000568	Microphthalmia	0	TMEM98 CL E G H	26022	24529	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent	3
HP:0000568	HP:0000568	Microphthalmia	0	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4	.	3
HP:0000568	HP:0000568	Microphthalmia	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0000568	HP:0000568	Microphthalmia	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000568	HP:0000568	Microphthalmia	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	2
HP:0000568	HP:0000568	Microphthalmia	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0000568	HP:0000568	Microphthalmia	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	HP:0040283 - Occasional	14
HP:0000568	HP:0000568	Microphthalmia	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0000568	HP:0000568	Microphthalmia	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	HP:0040283 - Occasional	14
HP:0000568	HP:0000568	Microphthalmia	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.	14
HP:0000568	HP:0000568	Microphthalmia	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.	61
HP:0000568	HP:0000568	Microphthalmia	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0000568	HP:0000568	Microphthalmia	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0000568	HP:0000568	Microphthalmia	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000568	HP:0000568	Microphthalmia	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000568	HP:0000568	Microphthalmia	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0000568	HP:0000568	Microphthalmia	0	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11	.	5
HP:0000568	HP:0000568	Microphthalmia	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional	546
HP:0000568	HP:0000568	Microphthalmia	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000568	HP:0000568	Microphthalmia	0	VSX2 CL E G H	338917	1975	OMIM:610093	MICROPHTHALMIA, ISOLATED 2; MCOP2		66
HP:0000568	HP:0000568	Microphthalmia	0	VSX2 CL E G H	338917	1975	OMIM:610092	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3		66
HP:0000568	HP:0000568	Microphthalmia	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000568	HP:0000568	Microphthalmia	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0000568	HP:0000568	Microphthalmia	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0000568	HP:0000568	Microphthalmia	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0000568	HP:0000568	Microphthalmia	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000568	HP:0000568	Microphthalmia	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040282 - Frequent	5
HP:0000568	HP:0000568	Microphthalmia	0	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	HP:0040283 - Occasional	2
HP:0000568	HP:0000568	Microphthalmia	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent	2
HP:0000568	HP:0000568	Microphthalmia	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000568	HP:0000568	Microphthalmia	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0000568	HP:0000568	Microphthalmia	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0000568	HP:0000568	Microphthalmia	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0000568	HP:0000568	Microphthalmia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000568	HP:0007633	Bilateral microphthalmos	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000568	HP:0011480	Unilateral microphthalmos	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000568	HP:0007633	Bilateral microphthalmos	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000568	HP:0011480	Unilateral microphthalmos	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000568	HP:0007633	Bilateral microphthalmos	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0000568	HP:0007633	Bilateral microphthalmos	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0000568	HP:0007633	Bilateral microphthalmos	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0000568	HP:0007633	Bilateral microphthalmos	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0000568	HP:0007633	Bilateral microphthalmos	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000568	HP:0007633	Bilateral microphthalmos	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000568	HP:0007633	Bilateral microphthalmos	1	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0000568	HP:0007633	Bilateral microphthalmos	1	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0000568	HP:0007633	Bilateral microphthalmos	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0000568	HP:0007633	Bilateral microphthalmos	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000568	HP:0007633	Bilateral microphthalmos	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0000568	HP:0007633	Bilateral microphthalmos	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0000568	HP:0007633	Bilateral microphthalmos	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040283 - Occasional	194
HP:0000568	HP:0011480	Unilateral microphthalmos	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040283 - Occasional	194
HP:0000568	HP:0007633	Bilateral microphthalmos	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000568	HP:0007633	Bilateral microphthalmos	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000568	HP:0007633	Bilateral microphthalmos	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000568	HP:0007633	Bilateral microphthalmos	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000568	HP:0007633	Bilateral microphthalmos	1	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5	.	67
HP:0000568	HP:0007633	Bilateral microphthalmos	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000568	HP:0007633	Bilateral microphthalmos	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000568	HP:0007633	Bilateral microphthalmos	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0000568	HP:0007633	Bilateral microphthalmos	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (270) :ABCB6 ACTB ACTG1 ALDH1A3 ALDH6A1 ALX1 ALX3 ALX4 AP2M1 ARHGAP31 ARVCF ARX ASPH ATN1 ATOH7 B3GALNT2 B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C12ORF57 CAPN15 CARS1 CC2D2A CENPF CEP120 CEP290 CEP57 CHD2 CHD7 CHUK COL4A1 COMT COX14 COX7B CRB1 CRPPA CRYAA CSPP1 CTDP1 CTNNB1 CYTB DACT1 DAG1 DLL4 DOCK6 DONSON DPYD EBP EOGT ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXW11 FGF3 FGFR1 FIG4 FKRP FKTN FOXC2 FOXE3 FOXL2 FRAS1 FREM1 FREM2 FZD4 GDF3 GDF6 GJA1 GJA5 GJA8 GLI2 GLI3 GMPPB GP1BB GRIP1 GTF2E2 GTF2H5 HCCS HDAC6 HIRA HMGB3 HMX1 HRAS HYLS1 IKBKG INTS1 INTU JAM3 JMJD1C KERA KIF11 KIF14 KIF15 KIF7 KRAS LAMB2 LARGE1 LMBRD2 LRP5 MAB21L2 MAD2L2 MAPRE2 MBTPS2 MED12 MED13L MED25 MFRP MITF MKS1 MPLKIP NAA10 NDP NDUFB11 NEXMIF NHS NOTCH1 NRAS NUP188 OCRL OSGEP OTX2 PALB2 PAX2 PAX6 PCYT1A PDE6D PEX7 PHGDH PHYH PIEZO2 PIGN PIK3CA PITX3 PLK4 POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PQBP1 PRIM1 PRR12 PRSS56 PTCH1 PTCH2 PUF60 RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RARB RAX RB1 RBBP8 RBP4 RBPJ RECQL4 RERE RFWD3 RHOA RIPK4 RNF113A RPGRIP1 RPGRIP1L RREB1 RSPO2 RTTN RXYLT1 SALL1 SALL4 SCN1A SEC24C SEMA3E SETD5 SF3B2 SHH SIN3A SIX3 SIX6 SLC25A24 SLC2A1 SLC38A8 SLC6A1 SLX4 SMAD4 SMARCA2 SMCHD1 SMG9 SMO SMOC1 SOX2 SPECC1L SRD5A3 STRA6 SUFU SYCE1 SYNGAP1 TARS1 TBC1D20 TBL1XR1 TBR1 TBX1 TBX15 TCOF1 TCTN1 TCTN2 TCTN3 TENM3 TFAP2A TKFC TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TMEM98 TMTC3 TOGARAM1 TRIP13 TSPAN12 TUBB TUBGCP4 TUBGCP6 TXNDC15 UBE2T UFD1 VAC14 VAX1 VPS13B VPS35L VSX2 WDR37 WDR73 WNT3 XRCC2 XYLT2 YAP1 ZEB2 ZNF408 ZNF699

Diseases (269) :OMIM:614497 OMIM:243310 OMIM:614583 OMIM:615113 ORPHA:35612 OMIM:614105 OMIM:613456 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:613451 ORPHA:228390 ORPHA:1942 ORPHA:974 OMIM:100300 ORPHA:567 OMIM:308350 OMIM:601552 OMIM:618494 ORPHA:91495 OMIM:221900 OMIM:615181 ORPHA:899 ORPHA:564 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 OMIM:193220 ORPHA:139471 OMIM:607932 ORPHA:84 OMIM:617883 OMIM:609054 ORPHA:1052 ORPHA:1777 OMIM:619318 ORPHA:33364 OMIM:243605 OMIM:616300 OMIM:611134 ORPHA:138 OMIM:214800 OMIM:619339 OMIM:175780 OMIM:619053 ORPHA:2556 OMIM:309801 OMIM:614643 OMIM:604219 ORPHA:48431 ORPHA:891 ORPHA:137675 ORPHA:857 OMIM:616538 OMIM:614219 OMIM:251230 OMIM:274270 OMIM:302960 ORPHA:401973 ORPHA:35173 OMIM:610758 ORPHA:1466 OMIM:610756 OMIM:601675 OMIM:278730 OMIM:610651 OMIM:616570 OMIM:278780 OMIM:214150 ORPHA:90324 OMIM:133540 ORPHA:3103 OMIM:268300 ORPHA:93325 OMIM:602361 OMIM:127000 OMIM:227650 ORPHA:3412 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:614082 OMIM:609053 OMIM:614083 OMIM:618914 ORPHA:2791 OMIM:613001 ORPHA:2117 ORPHA:3472 ORPHA:370959 OMIM:236670 OMIM:613153 OMIM:253800 OMIM:153400 OMIM:610256 ORPHA:83461 OMIM:110100 OMIM:219000 ORPHA:2052 OMIM:248450 ORPHA:2717 OMIM:123570 OMIM:613704 OMIM:613703 OMIM:613094 OMIM:164200 OMIM:257850 OMIM:612474 OMIM:610829 OMIM:146510 ORPHA:672 OMIM:616395 OMIM:300863 ORPHA:163966 OMIM:300915 OMIM:612109 ORPHA:2612 ORPHA:2189 OMIM:236680 ORPHA:464 OMIM:308300 OMIM:618571 OMIM:617925 OMIM:613730 OMIM:217300 OMIM:152950 ORPHA:2526 OMIM:617914 OMIM:619981 OMIM:609049 OMIM:619694 OMIM:259770 ORPHA:2788 OMIM:615877 ORPHA:2505 OMIM:616734 ORPHA:85284 OMIM:300895 ORPHA:369891 ORPHA:464738 OMIM:611040 OMIM:609549 OMIM:617306 OMIM:249000 OMIM:234050 OMIM:305390 OMIM:310600 ORPHA:649 OMIM:302350 ORPHA:627 OMIM:618804 OMIM:309000 ORPHA:534 OMIM:617729 OMIM:610125 OMIM:120330 OMIM:604229 ORPHA:2334 OMIM:120200 ORPHA:137902 ORPHA:85167 OMIM:615665 ORPHA:773 OMIM:256520 OMIM:248700 ORPHA:2059 OMIM:602501 OMIM:610623 OMIM:616171 ORPHA:861 OMIM:253280 OMIM:614830 OMIM:615249 OMIM:613150 OMIM:305600 ORPHA:2092 OMIM:309500 OMIM:620005 OMIM:619539 OMIM:613517 OMIM:109400 OMIM:610828 ORPHA:77301 ORPHA:508488 ORPHA:508498 ORPHA:2510 OMIM:614222 OMIM:600118 OMIM:212720 OMIM:614225 ORPHA:2470 OMIM:615524 OMIM:611038 ORPHA:1587 OMIM:606744 OMIM:616428 OMIM:268400 OMIM:616975 ORPHA:494344 OMIM:618727 OMIM:263650 OMIM:611561 ORPHA:3301 ORPHA:468631 OMIM:614833 ORPHA:959 OMIM:607323 ORPHA:404440 OMIM:164210 OMIM:611638 OMIM:147250 OMIM:613406 OMIM:157170 OMIM:206900 OMIM:212550 OMIM:612289 OMIM:609218 OMIM:139210 ORPHA:2728 OMIM:603457 ORPHA:2250 OMIM:616920 ORPHA:1553 OMIM:601707 OMIM:206920 ORPHA:1106 ORPHA:77298 OMIM:600251 OMIM:612379 OMIM:601186 OMIM:616947 OMIM:615663 OMIM:602342 ORPHA:487825 ORPHA:1617 OMIM:260660 OMIM:154500 OMIM:613885 OMIM:615145 OMIM:113620 OMIM:618805 OMIM:608091 OMIM:603194 OMIM:614424 OMIM:615972 OMIM:617255 OMIM:619185 OMIM:615771 OMIM:156610 OMIM:616335 OMIM:251270 OMIM:619879 OMIM:614402 ORPHA:193 OMIM:619135 OMIM:610093 OMIM:610092 OMIM:618652 OMIM:251300 OMIM:273395 ORPHA:85194 OMIM:120433 ORPHA:1473 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:619488

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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