Human Phenotype Ontology

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

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

Parent Node:
Abnormal fundus morphology (HP:0001098)

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

..Starting node
..Aplasia/Hypoplasia affecting the fundus (HP:0008057)

Term ID:

8057

Name:

Aplasia/Hypoplasia affecting the fundus

Synonym:

Absent/small fundus

Definition:

Comments:

Reference:

HP:0008057

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia of the optic nerve (HP:0008058)

................... HP:0000609 Optic nerve hypoplasia
................... HP:0007766 Optic disc hypoplasia
................... HP:0012521 Optic nerve aplasia

........

Aplasia/Hypoplasia of the retina (HP:0008061)

................... HP:0007770 Hypoplasia of the retina
................... HP:0008059 Aplasia/Hypoplasia of the macula
................... HP:0010728 Aplasia of the retina

Sister Nodes:

Anophthalmia (HP:0000528)

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

Aplasia/Hypoplasia affecting the uvea (HP:0008055)

Microphthalmia (HP:0000568)

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:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease		826
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome		5
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease		58
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type		118
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease		194
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54		29
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease		62
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum		172
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia		63
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism		64
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum		21
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia		21
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	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:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	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:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive		9
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome		132
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease		35
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome		37
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum		41
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included		194
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia		194
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum		34
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease		110
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease		159
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	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:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome		11
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures		113
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI		12
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6		12
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum		33
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum		24
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia		1
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia		21
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0008057	HP:0008057	Aplasia/Hypoplasia affecting the fundus	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease		826
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome		5
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease		58
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type		118
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease		194
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54		29
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease		62
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum		172
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia		63
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism		64
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum		21
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia		21
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive		9
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome		132
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease		35
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome		37
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum		41
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included		194
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia		194
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum		34
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease		110
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease		159
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures		113
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI		12
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6		12
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum		33
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum		24
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia		1
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia		21
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0008057	HP:0008061	Aplasia/Hypoplasia of the retina	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0008057	HP:0008058	Aplasia/Hypoplasia of the optic nerve	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0008057	HP:0010728	Aplasia of the retina	2	CL E G H
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	826
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8	.	10
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent	102
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0008057	HP:0007766	Optic disc hypoplasia	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional	3179
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent
HP:0008057	HP:0007766	Optic disc hypoplasia	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease		58
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040283 - Occasional	118
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0008057	HP:0007766	Optic disc hypoplasia	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	194
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008057	HP:0007766	Optic disc hypoplasia	2	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040282 - Frequent	29
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	HP:0040283 - Occasional	29
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	62
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	HP:0040283 - Occasional	12
HP:0008057	HP:0007766	Optic disc hypoplasia	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0008057	HP:0007766	Optic disc hypoplasia	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	172
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	63
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0008057	HP:0007766	Optic disc hypoplasia	2	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008057	HP:0007766	Optic disc hypoplasia	2	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.	173
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism		64
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	HP:0040284 - Very rare
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	21
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	21
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.	21
HP:0008057	HP:0007766	Optic disc hypoplasia	2	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.	21
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0008057	HP:0007766	Optic disc hypoplasia	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.	9
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	51
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	43
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0008057	HP:0007766	Optic disc hypoplasia	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent	22
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040283 - Occasional	96
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0008057	HP:0007766	Optic disc hypoplasia	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0008057	HP:0007766	Optic disc hypoplasia	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	.	41
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	41
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia	.	194
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0008057	HP:0012521	Optic nerve aplasia	2	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included		194
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	194
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040280 - Obligate	194
HP:0008057	HP:0007766	Optic disc hypoplasia	2	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040281 - Very frequent	194
HP:0008057	HP:0012521	Optic nerve aplasia	2	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0008057	HP:0007766	Optic disc hypoplasia	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0008057	HP:0007766	Optic disc hypoplasia	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0008057	HP:0007770	Hypoplasia of the retina	2	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	36
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	34
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	110
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	54
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	159
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent	22
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures	HP:0040284 - Very rare	113
HP:0008057	HP:0007766	Optic disc hypoplasia	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0008057	HP:0007766	Optic disc hypoplasia	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0008057	HP:0007766	Optic disc hypoplasia	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional	357
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0008057	HP:0012521	Optic nerve aplasia	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI		12
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent	12
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0008057	HP:0007766	Optic disc hypoplasia	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	.	94
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0008057	HP:0012521	Optic nerve aplasia	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	33
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	24
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0008057	HP:0007766	Optic disc hypoplasia	2	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040282 - Frequent	80
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	1
HP:0008057	HP:0007766	Optic disc hypoplasia	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	HP:0040284 - Very rare	12
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent	21
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia	.	177
HP:0008057	HP:0008059	Aplasia/Hypoplasia of the macula	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0008057	HP:0000609	Optic nerve hypoplasia	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0008057	HP:0100842	Septo-optic dysplasia	3	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0008057	HP:0001104	Macular hypoplasia	3	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease		58
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0008057	HP:0100842	Septo-optic dysplasia	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0008057	HP:0100842	Septo-optic dysplasia	3	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	200
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0008057	HP:0001104	Macular hypoplasia	3	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008057	HP:0001104	Macular hypoplasia	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0008057	HP:0001104	Macular hypoplasia	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0008057	HP:0100842	Septo-optic dysplasia	3	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	172
HP:0008057	HP:0100842	Septo-optic dysplasia	3	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0008057	HP:0001104	Macular hypoplasia	3	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008057	HP:0100842	Septo-optic dysplasia	3	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism		64
HP:0008057	HP:0100842	Septo-optic dysplasia	3	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	2
HP:0008057	HP:0100842	Septo-optic dysplasia	3	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0008057	HP:0100842	Septo-optic dysplasia	3	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	21
HP:0008057	HP:0100842	Septo-optic dysplasia	3	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	21
HP:0008057	HP:0001104	Macular hypoplasia	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	.	2
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0008057	HP:0001104	Macular hypoplasia	3	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0008057	HP:0001104	Macular hypoplasia	3	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008057	HP:0100842	Septo-optic dysplasia	3	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0008057	HP:0100842	Septo-optic dysplasia	3	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	43
HP:0008057	HP:0001104	Macular hypoplasia	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239
HP:0008057	HP:0001104	Macular hypoplasia	3	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types	HP:0040283 - Occasional	21
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0008057	HP:0001104	Macular hypoplasia	3	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0008057	HP:0001104	Macular hypoplasia	3	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0008057	HP:0100842	Septo-optic dysplasia	3	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0008057	HP:0100842	Septo-optic dysplasia	3	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	41
HP:0008057	HP:0033743	Macular agenesis	3	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0008057	HP:0001104	Macular hypoplasia	3	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent	194
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included		194
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0008057	HP:0100842	Septo-optic dysplasia	3	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0008057	HP:0100842	Septo-optic dysplasia	3	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	34
HP:0008057	HP:0100842	Septo-optic dysplasia	3	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	34
HP:0008057	HP:0100842	Septo-optic dysplasia	3	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0008057	HP:0100842	Septo-optic dysplasia	3	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	7
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0008057	HP:0100842	Septo-optic dysplasia	3	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI		12
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0008057	HP:0001104	Macular hypoplasia	3	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0008057	HP:0100842	Septo-optic dysplasia	3	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	33
HP:0008057	HP:0100842	Septo-optic dysplasia	3	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	24
HP:0008057	HP:0100842	Septo-optic dysplasia	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008057	HP:0100842	Septo-optic dysplasia	3	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	10
HP:0008057	HP:0100842	Septo-optic dysplasia	3	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0008057	HP:0033743	Macular agenesis	3	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008057	HP:0008060	Aplasia/Hypoplasia of the fovea	3	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008057	HP:0011503	Aplasia of the fovea	4	CL E G H
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040282 - Frequent	1
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	10
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.	58
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent	58
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	82
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	194
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	19
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040282 - Frequent	64
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.	124
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.	121
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.	194
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent	194
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.	194
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	80
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	14
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	200
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.	12
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.	13
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040281 - Very frequent	42
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.	146
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent	146
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent	146
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008057	HP:0007750	Hypoplasia of the fovea	4	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177

Genes (145) :ABCA4 ALDH1A2 ALDH1A3 ANKRD11 AP3D1 APC ARNT2 ARSL ATAD3A ATF6 ATOH7 B3GALNT2 BLOC1S3 BLOC1S5 CACNA1C CACNA1F CASK CDC42BPB CDON CENPF CEP85L CFAP418 CHN1 CNGA3 CNGB3 COL18A1 CRPPA DCT DDHD2 DNMT3A DPYD ELOVL4 EPG5 ERF EXOC2 FANCB FANCI FDFT1 FGFR1 FKRP FKTN FOXA2 FOXC1 FZD4 GATAD2B GDF3 GDF6 GLI2 GLYCTK GMPPB GNAT2 GPR143 GPR161 GRIA4 HESX1 HMX1 HNRNPK HNRNPU HPS4 HPS5 HPS6 IFT74 IKBKG KCNK4 KIF14 KNSTRN LAMB2 LARGE1 LHX3 LHX4 LYST MACF1 MAF MAFB MAP2K2 MBTPS2 MC1R MED12 MEF2C MPDZ MTSS2 MYO5A NDE1 NDP NEFL NEU1 NFIX NR2F1 OCA2 OTUD5 OTX2 PAX6 PDE6C PDE6H PIK3CD PLXNA1 POGZ POLR3A POMGNT1 POMK POMT1 POMT2 POU1F1 PPP1CB PPP2R1A PROKR2 PROM1 PROP1 PRPH2 PRPS1 PRR12 PTF1A PTPN23 PUF60 RNF113A RNF135 ROBO1 RPGR RSPO2 RTTN SALL4 SCN8A SIX6 SLC24A5 SLC38A8 SLC45A2 SNAP29 SON SOX2 SOX3 SPOP SRD5A3 STAG2 TRIM44 TRIT1 TUBA1A TUBA8 TUBB3 TYR UGP2 WDR11 WNT3 WT1 ZIC1 ZPR1

Diseases (132) :ORPHA:827 OMIM:620025 OMIM:615113 ORPHA:261250 ORPHA:54 ORPHA:261584 ORPHA:3157 ORPHA:79345 ORPHA:496790 ORPHA:49382 OMIM:616517 ORPHA:91495 OMIM:615181 OMIM:614077 OMIM:619172 OMIM:620029 OMIM:300600 ORPHA:178333 OMIM:300749 ORPHA:163937 OMIM:619841 ORPHA:95496 OMIM:243605 ORPHA:572013 OMIM:617406 ORPHA:233 OMIM:216900 OMIM:267750 OMIM:614643 OMIM:619165 ORPHA:320380 OMIM:615033 OMIM:615879 ORPHA:1675 OMIM:242840 OMIM:600775 OMIM:619306 OMIM:300514 OMIM:609053 OMIM:618156 ORPHA:370959 OMIM:236670 ORPHA:95494 ORPHA:250923 ORPHA:363686 OMIM:613703 OMIM:610829 OMIM:220120 OMIM:617864 ORPHA:226307 OMIM:182230 OMIM:612109 ORPHA:352665 ORPHA:453504 ORPHA:238769 OMIM:614073 OMIM:614074 OMIM:614075 OMIM:619582 OMIM:308300 OMIM:618381 OMIM:617914 ORPHA:221139 OMIM:609049 OMIM:214500 OMIM:610202 OMIM:615280 ORPHA:85284 OMIM:203200 ORPHA:79432 ORPHA:93932 ORPHA:228384 OMIM:615219 OMIM:620086 ORPHA:33445 ORPHA:2177 ORPHA:101085 ORPHA:93400 ORPHA:420179 OMIM:602535 ORPHA:401777 OMIM:301056 OMIM:610125 OMIM:106210 OMIM:604229 ORPHA:2334 OMIM:120200 OMIM:136520 ORPHA:137902 OMIM:165550 OMIM:619955 OMIM:616364 ORPHA:3455 OMIM:253280 OMIM:617506 ORPHA:457284 ORPHA:423479 OMIM:619539 OMIM:609069 ORPHA:65288 OMIM:618890 ORPHA:508488 ORPHA:508498 OMIM:300953 ORPHA:137634 ORPHA:3301 ORPHA:468631 OMIM:614833 ORPHA:959 OMIM:607323 OMIM:614306 OMIM:206900 OMIM:113750 ORPHA:370097 OMIM:609218 OMIM:606574 ORPHA:79435 OMIM:609528 ORPHA:500150 OMIM:618828 ORPHA:324737 OMIM:301043 OMIM:617873 ORPHA:171680 ORPHA:250972 ORPHA:300570 OMIM:203100 ORPHA:79431 ORPHA:79434 OMIM:618744 OMIM:618736 OMIM:619321

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

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