Eye Diseases Category (3177 diseases)

Including: vision, eye, retinal, optic
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		GYR004	Gyrate Atrophy of Choroid and Retina	51
2	c	OPT053	Optic Atrophy 1	54
3	c	OPT068	Optic Atrophy 3, Autosomal Dominant	35
4		LBR002	Leber Hereditary Optic Neuropathy	58
5	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	63
6	c	3MT015	3-Methylglutaconic Aciduria, Type I	45
7	c	3MT014	3-Methylglutaconic Aciduria, Type V	43
8	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	37
9	P	3MT007	3-Methylglutaconic Aciduria	33
10	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	29
11	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	21
12		LBR031	Leber Optic Atrophy and Dystonia	42
13		OPT066	Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy	29
14		NNR004	Nonarteritic Anterior Ischemic Optic Neuropathy	58
15	c	ATS069	Autosomal Dominant Optic Atrophy Plus Syndrome	25
16		CLB003	Coloboma of Optic Nerve	44
17		OPT006	Optic Nerve Disease	60
18		CLR033	Color Vision Deficiency	42
19		SPT006	Septooptic Dysplasia	54
20		SPT019	Septo-Optic Dysplasia Spectrum	32
21	c	FVL008	Foveal Hypoplasia 2	23
22	c	OPT023	Optic Atrophy 2	22
23		CRB058	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss	22
24	P	OPT070	Optic Nerve Hypoplasia, Bilateral	49
25	c	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	47
26	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	39
27	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	36
28	P	XLN110	X-Linked Charcot-Marie-Tooth Disease	36
29	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	28
30	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	24
31		EYL005	Eyelid Disease	40
32		OPT001	Optic Disk Drusen	38
33	c	MCR124	Microphthalmia, Isolated 1	37
34	P	MCR122	Microphthalmia, Isolated 5	30
35	c	MCR137	Microphthalmia, Isolated 2	24
36	c	MCR109	Microphthalmia, Isolated 4	23
37	c	MCR114	Microphthalmia, Isolated 3	23
38	c	MCR219	Microphthalmia, Isolated 8	21
39	c	MCR108	Microphthalmia, Isolated 7	17
40		OPT074	Optic Atrophy 7 with or Without Auditory Neuropathy	23
41		LBR030	Leber Optic Atrophy	40
42		SCH038	Schopf-Schulz-Passarge Syndrome	35
43		BHR001	Behr Syndrome	37
44		TRC055	Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina	15
45	P	CLB034	Coloboma, Ocular, Autosomal Dominant	47
46	c	BLP048	Blepharospasm, Benign Essential	40
47	P	PHS005	Peho Syndrome	38
48		SHR058	Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly	28
49	c	OPT071	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive	16
50	P	AGN002	Agnosia	62
51	P	OPT009	Optic Neuritis	55
52		BSC005	Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	33
53		SPS061	Spastic Paraplegia, Optic Atrophy, and Neuropathy	32
54		CRB159	Cerebral Visual Impairment	30
55	c	OPT064	Optic Atrophy 11	24
56	c	FRM002	Form Agnosia	15
57	P	NRM001	Neuromyelitis Optica	66
58		RTN209	Retinoschisis 1, X-Linked, Juvenile	55
59	c	NRM008	Neuromyelitis Optica Spectrum Disorder	33
60		EYL006	Eyelid Benign Neoplasm	28
61	c	OPT024	Optic Atrophy 5	23
62		ICH066	Ichthyosis--Cheek--Eyebrow Syndrome	18
63		OPT005	Optic Nerve Astrocytoma	10
64	P	RTN008	Retinitis Pigmentosa	79
65		RTN017	Retinal Detachment	62
66		BTT001	Bietti Crystalline Corneoretinal Dystrophy	46
67		TRT020	Tritanopia	45
68	c	RTN051	Retinitis Pigmentosa 22	33
69	c	NNS043	Nonsyndromic Retinitis Pigmentosa	32
70	c	RTN068	Retinitis Pigmentosa 6	31
71	c	RTN057	Retinitis Pigmentosa 29	29
72	c	RTN053	Retinitis Pigmentosa 24	28
73	c	RTN148	Retinitis Pigmentosa 63	22
74	c	RTN206	Retinitis Pigmentosa, Late-Adult Onset	21
75	c	RTN063	Retinitis Pigmentosa 34	19
76	c	RTN061	Retinitis Pigmentosa 32	19
77	c	RTN219	Retinitis Pigmentosa 85	15
78		CHS002	Chiasmal Syndrome	35
79		CRB165	Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation	22
80		ADT008	Auditory Neuropathy and Optic Atrophy	21
81		OPT058	Optic Disc Anomalies with Retinal and/or Macular Dystrophy	18
82		FLC002	Fleck Retina, Familial Benign	17
83	P	ANR048	Aniridia 1	63
84		RTN018	Retinal Disease	58
85	P	RTN016	Retinal Degeneration	56
86	P	CLR019	Color Blindness	49
87		ISC002	Ischemic Optic Neuropathy	48
88	c	LTN004	Late-Onset Retinal Degeneration	47
89		VSL003	Visual Agnosia	40
90		ALN001	Aland Island Eye Disease	38
91		VSL002	Visual Epilepsy	33
92		CRB189	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss	28
93		DYS187	Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities	24
94	c	OPT065	Optic Atrophy 9	24
95		VSL004	Visual Cortex Disease	23
96		CHL024	Childhood Optic Nerve Glioma	18
97		OPT062	Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures	17
98		VSL012	Visual Snow Syndrome	15
99		EYB005	Eyebrows, Duplication of, with Stretchable Skin and Syndactyly	15
100		HYP742	Hyperpigmentation of Eyelids	12
101		SHR049	Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome	9
102		VNS001	Venous Tributary Occlusion of Retina	8
103		BLT005	Bilateral Meningioma of Optic Nerve	7
104		CHL023	Childhood Optic Tract Astrocytoma	6
105	c	PX6002	Pax6-Related Aniridia	5
106	P	ENC018	Encephalopathy	65
107	P	WLF004	Wolfram Syndrome	60
108	c	WLF013	Wolfram Syndrome 1	54
109		SCT002	Scotoma	42
110		TRC077	Trichomegaly	40
111	P	HRD022	Hordeolum	34
112		OPT002	Optic Nerve Sheath Meningioma	32
113		CVT001	Cavitary Optic Disc Anomalies	30
114		OPT032	Optic Pathway Glioma	29
115	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	28
116	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	20
117		SPL058	Splenomegaly, Cytopenia, and Vision Loss	16
118	c	INT047	Internal Hordeolum	14
119		CHR675	Chronic Relapsing Inflammatory Optic Neuropathy	13
120	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	7
121	P	MYP006	Myopia	62
122		AST006	Astigmatism	51
123	c	MYP127	Myopia 2, Autosomal Dominant	23
124	c	MYP140	Myopia 17, Autosomal Dominant	21
125	c	MYP138	Myopia 3, Autosomal Dominant	20
126	c	MYP141	Myopia 5, Autosomal Dominant	19
127		MTC145	Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy	19
128	c	MYP144	Myopia 12, Autosomal Dominant	18
129	c	MYP146	Myopia 15, Autosomal Dominant	18
130	c	MYP133	Myopia 18, Autosomal Recessive	17
131	c	MYP147	Myopia 19, Autosomal Dominant	16
132	c	MYP041	Myopia 8	16
133	c	MYP040	Myopia 7	16
134	c	MYP048	Myopia 9	16
135	c	MYP044	Myopia 10	16
136	c	MYP145	Myopia 16, Autosomal Dominant	15
137	c	MYP143	Myopia 11, Autosomal Dominant	15
138	c	MYP069	Myopia 14	14
139		BNC002	Binocular Vision Disease	13
140	c	MYP084	Myopia 20, Autosomal Dominant	12
141		ALL005	Allergic Contact Dermatitis of Eyelid	8
142	P	VTL001	Vitelliform Macular Dystrophy	43
143		OPT010	Optic Papillitis	39
144		INT323	Intraocular Pressure Quantitative Trait Locus	38
145		OCC002	Occult Macular Dystrophy	34
146		FST001	Foster-Kennedy Syndrome	33
147		EYL002	Eyelid Carcinoma	33
148	P	ATM076	Autoimmune Retinopathy	32
149		VSL005	Visual Pathway Disease	23
150		CMB069	Combined Hamartoma of the Retina and Retinal Pigment Epithelium	22
151		BLN017	Balint Syndrome	16
152	c	OPT059	Optic Atrophy 4	16
153		SHR097	Short Tarsus with Absence of Lower Eyelashes	15
154	c	ACQ001	Acquired Color Blindness	15
155		FLC004	Fleck Retina of Kandori	13
156		ATS326	Autosomal Recessive Isolated Optic Atrophy	11
157		MLG010	Malignant Eyelid Melanoma	11
158		CNG395	Congenital Retinal Arteriovenous Communication	10
159		GLC005	Glaucomatous Atrophy of Optic Disc	9
160		ATM073	Autoimmune-Related Retinopathy and Optic Neuropathy	8
161		NNN006	Noninfectious Dermatoses of Eyelid	8
162		ANT020	Anterior Optic Tract Meningioma	7
163		PRS018	Parasitic Eyelid Infestation	6
164		INF155	Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	6
165		CRT010	Crater-Like Holes of Optic Disc	6
166	c	NDP001	Ndp-Related Retinopathies	6
167		CLB012	Coloboma of Optic Papilla	3
168	P	ACH003	Achromatopsia	57
169		FND001	Fundus Albipunctatus	56
170		OCL052	Ocular Dominance	48
171	c	LBR004	Leber Congenital Amaurosis 1	44
172	P	CRN233	Corneal Dystrophy, Fuchs Endothelial, 1	38
173	c	LBR012	Leber Congenital Amaurosis 2	37
174		ART110	Arteritic Anterior Ischemic Optic Neuropathy	34
175		3MC001	3mc Syndrome 2	31
176		ENC048	Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy	27
177	c	CND012	Cone Dystrophy 4	24
178	c	CRN242	Corneal Dystrophy, Fuchs Endothelial, 2	23
179		HRL006	Harel-Yoon Syndrome	21
180		CMB047	Combined Oxidative Phosphorylation Deficiency 18	21
181	c	OPT060	Optic Atrophy 8	20
182	c	CRN121	Corneal Dystrophy, Fuchs Endothelial, 5	17
183	c	CRN122	Corneal Dystrophy, Fuchs Endothelial, 7	16
184		NTR002	Nutritional Optic Neuropathy	15
185		VSL013	Visual Impairment and Progressive Phthisis Bulbi	14
186	P	CTR002	Cataract	58
187	c	GLC092	Glaucoma, Primary Open Angle	58
188		OCL006	Ocular Hypertension	56
189	P	PTS002	Ptosis	55
190	c	STR084	Stargardt Disease 1	54
191		GLC098	Glaucoma-Related Pigment Dispersion Syndrome	51
192	P	OCL001	Ocular Albinism	48
193		RFR003	Refractive Error	46
194		ECT005	Ectropion	46
195	P	CND005	Cone Dystrophy	45
196	c	RTN150	Retinitis Pigmentosa 10	43
197	c	NGH026	Night Blindness, Congenital Stationary, Type 1a	42
198	c	CTR130	Cataract 9, Multiple Types	41
199	c	LBR019	Leber Congenital Amaurosis 9	40
200	c	CNR003	Cone-Rod Dystrophy 1	38
201	c	CTR115	Cataract 16, Multiple Types	38
202		DST033	Distichiasis	38
203	c	CNR023	Cone-Rod Dystrophy 8	37
204	c	CNG513	Congenital Ptosis	37
205	c	CTR170	Cataract 30, Multiple Types	37
206	c	CTR141	Cataract 21, Multiple Types	33
207	c	CNR014	Cone-Rod Dystrophy 16	33
208	c	CTR122	Cataract 5, Multiple Types	33
209		PSD008	Pseudopapilledema	32
210	c	CTR103	Cataract 4, Multiple Types	32
211	c	CTR145	Cataract 44	32
212	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	31
213	c	CTR095	Cataract 8, Multiple Types	31
214	c	CTR158	Cataract 37	31
215	c	MCR211	Microphthalmia, Isolated 6	31
216	c	LBR018	Leber Congenital Amaurosis 8	31
217	c	LBR016	Leber Congenital Amaurosis 6	31
218	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	31
219	c	CTR132	Cataract 3, Multiple Types	30
220	c	CTR125	Cataract 7	30
221	c	NGH010	Night Blindness, Congenital Stationary, Autosomal Dominant 2	29
222	c	CTR102	Cataract 2, Multiple Types	29
223	c	CTR175	Cataract 24	28
224	c	NGH029	Night Blindness, Congenital Stationary, Type 1e	28
225	c	ANR047	Aniridia 2	28
226	c	MCL059	Macular Dystrophy, Patterned, 1	28
227	c	CTR121	Cataract 25	28
228	c	MCL070	Macular Dystrophy, Patterned, 3	28
229		AMT001	Ametropic Amblyopia	27
230	c	RTN140	Retinitis Pigmentosa 67	27
231		WGN007	Wagner Vitreoretinopathy	27
232	c	CTR129	Cataract 31, Multiple Types	26
233	c	CTR113	Cataract 11, Multiple Types	26
234	c	PHL010	Peho-Like Syndrome	25
235	c	OGC001	Oguchi Disease 1	25
236	c	CTR169	Cataract 29	24
237	c	LBR008	Leber Congenital Amaurosis 13	24
238	c	NGH027	Night Blindness, Congenital Stationary, Type 1c	24
239	c	CTR166	Cataract 33, Multiple Types	23
240	c	CTR181	Cataract 18	23
241	c	CTR116	Cataract 15, Multiple Types	23
242	c	RTN166	Retinitis Pigmentosa 69	23
243	c	CTR119	Cataract 32, Multiple Types	23
244	c	NGH030	Night Blindness, Congenital Stationary, Type 1f	23
245	c	CTR131	Cataract 17, Multiple Types	23
246	c	CTR180	Cataract 22, Multiple Types	22
247	c	CTR162	Cataract 47	22
248	c	CTR165	Cataract 19, Multiple Types	22
249	c	CTR184	Cataract 39, Multiple Types	22
250	c	CNR027	Cone-Rod Dystrophy 17	22
251	c	NGH008	Night Blindness, Congenital Stationary, Autosomal Dominant 3	21
252	c	CTR105	Cataract 12, Multiple Types	21
253	c	MCL071	Macular Dystrophy, Patterned, 2	21
254	P	PTT054	Patterned Macular Dystrophy	21
255	c	CTR159	Cataract 35	20
256	c	NGH022	Night Blindness, Congenital Stationary, Type 1g	20
257	c	PTS010	Ptosis, Hereditary Congenital 2	20
258	c	CTR183	Cataract 38	20
259	c	CTR163	Cataract 46, Juvenile-Onset	20
260	c	CTR097	Cataract 34, Multiple Types	20
261	c	CTR111	Cataract 36	20
262	c	NGH021	Night Blindness, Congenital Stationary, Autosomal Dominant 1	20
263	c	MCL061	Macular Dystrophy, Vitelliform, 4	19
264	c	CTR139	Cataract 42	19
265	c	CTR110	Cataract 26, Multiple Types	19
266	c	STR054	Stargardt Disease 4	18
267	c	MCL056	Macular Dystrophy, Vitelliform, 5	18
268	c	CTR157	Cataract 28	18
269	c	CTR106	Cataract 20, Multiple Types	18
270	c	GLC079	Glaucoma 1, Open Angle, P	18
271	c	CTR144	Cataract 43	18
272	c	CTR185	Cataract 30	18
273	c	CTR160	Cataract 45	18
274	c	CTR178	Cataract 27	17
275	c	OGC002	Oguchi Disease 2	17
276	c	PTS018	Ptosis, Hereditary Congenital 1	16
277		JVN026	Jeavons Syndrome	15
278	c	CTR128	Cataract 33	14
279	c	CTR025	Cataract, Total Congenital	14
280		GRP007	Grouped Pigmentation of the Retina	14
281	c	GLC048	Glaucoma 1, Open Angle, I	13
282		HYP046	Hypopigmentation of Eyelid	9
283	c	CTR008	Cataract Congenital Autosomal Dominant	7
284	P	CNJ013	Conjunctivitis	65
285		VTR013	Vitreoretinopathy, Neovascular Inflammatory	61
286	c	RTN162	Retinitis Pigmentosa 2	52
287	c	FRS014	Fraser Syndrome 1	50
288		AMB002	Amblyopia	49
289	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	49
290		ALB002	Albinism	48
291		KHN001	Kuhnt-Junius Degeneration	48
292	c	USH035	Usher Syndrome Type 2	47
293	c	USH021	Usher Syndrome, Type Iid	46
294	P	BLP003	Blepharospasm	44
295	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	44
296		OCL025	Ocular Toxoplasmosis	43
297		CRN241	Corneal Dystrophy, Congenital Stromal	43
298	c	RTN058	Retinitis Pigmentosa 3	41
299	c	FBR046	Fibrosis of Extraocular Muscles, Congenital, 1	41
300	c	ATM100	Autoimmune Optic Neuritis	39
301		PRR004	Preretinal Fibrosis	39
302	c	CHR086	Chronic Conjunctivitis	38
303	c	RTN069	Retinitis Pigmentosa 7	38
304	c	RTN041	Retinitis Pigmentosa 11	37
305	c	USH041	Usher Syndrome, Type if	36
306	c	USH042	Usher Syndrome, Type Ig	36
307	c	WLF009	Wolfram Syndrome 2	35
308		ISL119	Isolated Optic Neuritis	34
309	c	LBR005	Leber Congenital Amaurosis 10	33
310	c	ACH023	Achromatopsia 4	32
311		DGN003	Degeneration of Macula and Posterior Pole	32
312	c	RTN070	Retinitis Pigmentosa 9	31
313	c	BCT006	Bacterial Conjunctivitis	30
314		BCH003	Boucher-Neuhauser Syndrome	29
315		PRP026	Peripheral Retinal Degeneration	29
316	c	USH031	Usher Syndrome, Type Ij	29
317	c	USH030	Usher Syndrome, Type Ik	29
318	c	ACT067	Acute Conjunctivitis	28
319		3MC002	3mc Syndrome 1	28
320	c	LBR015	Leber Congenital Amaurosis 5	27
321	c	MCL078	Macular Degeneration, Age-Related, 14	26
322	c	USH044	Usher Syndrome, Type Iiib	26
323		TXC008	Toxic Optic Neuropathy	26
324	c	FBR050	Fibrosis of Extraocular Muscles, Congenital, 2	25
325	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	25
326	P	FVL006	Foveal Hypoplasia 1	24
327	c	MCL043	Macular Degeneration, Age-Related, 2	24
328	c	EXD004	Exudative Vitreoretinopathy 4	23
329	c	NGH028	Night Blindness, Congenital Stationary, Type 1d	22
330	c	MCL030	Macular Degeneration, Age-Related, 10	22
331	c	ACH038	Achromatopsia 7	22
332		MCL057	Macular Dystrophy with Central Cone Involvement	21
333	c	CLB022	Coloboma, Ocular, Autosomal Recessive	21
334	P	PRM016	Primary Optic Atrophy	21
335	c	MCL051	Macular Degeneration, Age-Related, 12	21
336	c	NGH024	Night Blindness, Congenital Stationary, Type 1h	20
337	c	EXD010	Exudative Vitreoretinopathy 6	20
338	c	MCL052	Macular Degeneration, Age-Related, 13	20
339	c	EXD012	Exudative Vitreoretinopathy 7	20
340	c	LBR006	Leber Congenital Amaurosis 11	19
341		CLB018	Coloboma of Eyelid	19
342	c	EXD006	Exudative Vitreoretinopathy 5	19
343	c	LBR017	Leber Congenital Amaurosis 7	19
344	c	MCL036	Macular Degeneration, Age-Related, 6	19
345	P	MCL058	Macular Degeneration, Early-Onset	19
346	P	TXC009	Toxic Maculopathy	19
347		SPN033	Spontaneous Ocular Nystagmus	19
348	c	USH043	Usher Syndrome, Type Ih	19
349	c	MYP074	Myopia 23, Autosomal Recessive	19
350	c	MCL077	Macular Degeneration, Age-Related, 5	18
351	c	MCL038	Macular Degeneration, Age-Related, 4	18
352	c	FRS015	Fraser Syndrome 3	18
353	c	USH045	Usher Syndrome, Type Iv	18
354	c	MYP070	Myopia 21, Autosomal Dominant	18
355		APR010	Apraxia of Eyelid Opening	17
356	c	CRN306	Corneal Dystrophy, Posterior Polymorphous, 4	17
357		OPT077	Optic Disc Pit	17
358		CNG355	Congenital Eyelid Retraction	17
359	P	FBR081	Fibrosis of Extraocular Muscles, Congenital, 3c	16
360	c	MYP075	Myopia 22, Autosomal Dominant	16
361	c	FBR078	Fibrosis of Extraocular Muscles, Congenital, 5	16
362	c	MCL041	Macular Degeneration, Age-Related, 7	16
363	c	MYP090	Myopia 24, Autosomal Dominant	16
364	c	FRS016	Fraser Syndrome 2	16
365	c	MCL032	Macular Degeneration, Age-Related, 11	16
366	c	MYP117	Myopia 25, Autosomal Dominant	15
367		WLF014	Wolfram Syndrome, Mitochondrial Form	15
368	c	MCL044	Macular Degeneration, Age-Related, 9	15
369	c	MCL065	Macular Degeneration, Age-Related, 15	15
370		VSP001	Vasoproliferative Tumor of the Retina	14
371		MTP036	Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy	14
372		PSD005	Pseudoretinitis Pigmentosa	13
373		MYP135	Myopia 26, X-Linked, Female-Limited	13
374		INT334	Intellectual Developmental Disorder and Retinitis Pigmentosa	13
375	P	FRS017	Fraser-Like Syndrome	13
376		MNT316	Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature	13
377		SPT020	Spatial Visualization, Aptitude for	12
378		CHL133	Cholestasis with Gallstone, Ataxia, and Visual Disturbance	11
379		TNT001	Tented Eyebrows	11
380	P	OPT029	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant	10
381		BLS004	Blessig's Cysts	10
382		NRP050	Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance	10
383		OPT072	Opticocochleodentate Degeneration	10
384	c	USH011	Usher Syndrome, Type 2b	10
385		SPS217	Spastic Paraplegia, Optic Atrophy, and Dementia	10
386		VSL001	Visual Verbal Agnosia	9
387		FRD011	Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness	9
388		OPT067	Optic Atrophy with Demyelinating Disease of Cns	9
389		OPT069	Optic Atrophy with Negative Electroretinograms	9
390		MYL068	Myelinated Optic Nerve Fibers	9
391		RTN005	Retinal Lattice Degeneration	9
392		OPT073	Optic Atrophy--Spastic Paraplegia Syndrome	9
393		HLR003	Hole Retinal Cyst	9
394		IDP087	Idiopathic Optic Perineuritis	9
395		LTT009	Lattice Degeneration of Retina Leading to Retinal Detachment	8
396		CBB001	Cobblestone Retinal Degeneration	8
397		PRT024	Partial Optic Atrophy	7
398		CYS012	Cystoid Macular Retinal Degeneration	7
399		TRS032	Tristichiasis	7
400		XLN221	X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome	7
401		SNL002	Senile Reticular Retinal Degeneration	7
402		XRD002	Xeroderma of Eyelid	6
403		ECZ001	Eczematous Dermatitis of Eyelid	6
404		PRP004	Peripheral Scars of Retina	6
405		CLB023	Coloboma of Inferior Eyelid	6
406		EYB006	Eyebrow, Whorl in	6
407	c	TXC018	Toxic Maculopathy Due to Antimalarial Drugs	6
408		EYL004	Eyelid Degenerative Disease	6
409		HYP044	Hypotrichosis of Eyelid	5
410		DSC002	Discoid Lupus Erythematosus of Eyelid	5
411		HYP045	Hypertrichosis of Eyelid	5
412		ATS077	Autosomal Dominant Optic Atrophy and Peripheral Neuropathy	5
413		CLB024	Coloboma of Superior Eyelid	5
414		SPS224	Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal	4
415		ECC013	Eccrine Syringofibroadenomatosis with Eyelid Abnormalities	3
416		VSL006	Visual Pathway and Hypothalamic Glioma, Childhood	2
417	P	ATX030	Ataxia-Telangiectasia	83
418		PFF001	Pfeiffer Syndrome	79
419	P	NNN008	Noonan Syndrome 1	79
420	P	SRC025	Sarcoidosis 1	76
421	P	NRF023	Neurofibromatosis, Type Ii	76
422		MRF001	Marfan Syndrome	76
423		BHC003	Behcet Syndrome	75
424	P	MYS003	Myasthenia Gravis	74
425	P	FML011	Familial Adenomatous Polyposis	72
426	P	TRN020	Turner Syndrome	72
427		VNH007	Von Hippel-Lindau Syndrome	72
428		FBR012	Fabry Disease	72
429	P	ALG028	Alagille Syndrome 1	71
430	P	SPR120	Supranuclear Palsy, Progressive, 1	71
431	P	FRG001	Fragile X Syndrome	70
432	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	70
433	P	TYS001	Tay-Sachs Disease	70
434	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	69
435	c	HRD010	Hereditary Spastic Paraplegia	69
436	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	69
437		SMT004	Smith-Lemli-Opitz Syndrome	69
438	P	PSD087	Pseudoxanthoma Elasticum	68
439	P	DYS007	Dyskeratosis Congenita	67
440	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
441	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
442		LWC002	Lowe Oculocerebrorenal Syndrome	67
443	P	KBK002	Kabuki Syndrome 1	67
444	c	FML346	Familial Adenomatous Polyposis 1	67
445		INC021	Incontinentia Pigmenti	67
446	c	MCP050	Mucopolysaccharidosis, Type Ii	67
447	P	GCH001	Gaucher's Disease	66
448	P	KRB001	Krabbe Disease	66
449	P	CCK001	Cockayne Syndrome	66
450	c	NNN010	Noonan Syndrome 3	66
451		CRB011	Cerebrotendinous Xanthomatosis	65
452	c	CNG411	Congenital Disorder of Glycosylation, Type in	65
453	c	MCP049	Mucopolysaccharidosis, Type Vii	65
454	c	GCH015	Gaucher Disease, Type I	65
455		NRR002	Norrie Disease	65
456	P	BRD002	Bardet-Biedl Syndrome	65
457		WLL001	Williams-Beuren Syndrome	64
458	P	TRC072	Treacher Collins Syndrome 1	64
459	P	LPR021	Leprosy 3	63
460	P	MCK013	Meckel Syndrome, Type 1	63
461		RFS006	Refsum Disease, Classic	63
462	P	CTS001	Cutis Laxa	62
463	P	UVT001	Uveitis	62
464	P	NRN021	Neuronal Ceroid Lipofuscinosis	62
465	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
466		KLP010	Klippel-Trenaunay-Weber Syndrome	61
467		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	61
468		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	61
469	c	BRD014	Bardet-Biedl Syndrome 2	61
470	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
471	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	60
472		VGT001	Vogt-Koyanagi-Harada Disease	60
473	c	GLC097	Glaucoma 3, Primary Congenital, a	59
474	P	OCL013	Oculodentodigital Dysplasia	59
475	P	DST002	Distal Arthrogryposis	59
476	c	PRX045	Peroxisome Biogenesis Disorder 1b	59
477	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	59
478	c	GCH016	Gaucher Disease, Type Ii	59
479		STR039	Sturge-Weber Syndrome	58
480	P	OCL002	Oculocutaneous Albinism	58
481	c	BRD010	Bardet-Biedl Syndrome 1	58
482	c	MNN047	Mannosidosis, Alpha B, Lysosomal	58
483		EXF001	Exfoliation Syndrome	58
484	P	ICH004	Ichthyosis	57
485		LCR014	Lacrimoauriculodentodigital Syndrome	57
486	P	WRD001	Waardenburg's Syndrome	57
487		STR020	Strabismus	57
488		CHN055	Chanarin-Dorfman Syndrome	56
489	P	HLL001	Hallermann-Streiff Syndrome	56
490	P	CRN108	Cranioectodermal Dysplasia 1	56
491		HRL003	Hurler Syndrome	55
492		MCL006	Macular Retinal Edema	55
493	c	NNN012	Noonan Syndrome 5	55
494	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	55
495	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
496		OST024	Osteoporosis-Pseudoglioma Syndrome	55
497	c	LBR014	Leber Congenital Amaurosis 4	55
498		KRT006	Keratoconjunctivitis	55
499	c	GCH017	Gaucher Disease, Type Iii	55
500	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	54
501		LPR001	Lepromatous Leprosy	54
502	P	END047	Endophthalmitis	54
503		MLT135	Multiple Sulfatase Deficiency	54
504	c	INT064	Intermediate Uveitis	54
505	P	CNG010	Congenital Stationary Night Blindness	54
506		ABL002	Ablepharon-Macrostomia Syndrome	54
507	c	ANT034	Anterior Uveitis	54
508	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	53
509	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
510	P	OPN001	Open-Angle Glaucoma	53
511		RTN003	Retinal Ischemia	53
512	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	53
513		DRY001	Dry Eye Syndrome	53
514	c	WRD033	Waardenburg Syndrome, Type 2e	53
515	P	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	52
516		GLC012	Galactosialidosis	52
517	c	ART120	Arthrogryposis, Distal, Type 3	52
518	c	PST005	Posterior Uveitis	52
519		CCH002	Coach Syndrome	52
520	c	MCR256	Microphthalmia, Syndromic 9	52
521	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	52
522	c	BRD012	Bardet-Biedl Syndrome 11	52
523	P	PNV001	Panuveitis	52
524		EXP004	Exophthalmos	52
525		NNT017	Neonatal Adrenoleukodystrophy	52
526	c	NNN009	Noonan Syndrome 2	51
527		CRN027	Corneal Neovascularization	51
528	c	PRX059	Peroxisome Biogenesis Disorder 1a	51
529	c	CCK008	Cockayne Syndrome a	51
530	c	ATM099	Autoimmune Uveitis	51
531		FND002	Fundus Dystrophy	51
532		ACT011	Acute Contagious Conjunctivitis	51
533		CTY001	Cat Eye Syndrome	51
534		STR072	Stromal Keratitis	51
535	c	CCK007	Cockayne Syndrome B	51
536	c	ALB020	Albinism, Oculocutaneous, Type Iii	50
537	c	ART144	Arthrogryposis, Distal, Type 1a	50
538	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
539		CNJ012	Conjunctival Disease	50
540	P	NGH001	Night Blindness	50
541		PTH003	Pathologic Nystagmus	50
542	c	ART119	Arthrogryposis, Distal, Type 5	50
543		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	50
544	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	50
545	P	NLX004	Neu-Laxova Syndrome 1	50
546	P	RTN014	Retinal Artery Occlusion	50
547	P	HYP087	Hypotrichosis	50
548		DBT006	Diabetic Macular Edema	49
549	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	49
550		ENH001	Enhanced S-Cone Syndrome	49
551		NVS001	Neovascular Glaucoma	49
552	c	GRS014	Griscelli Syndrome, Type 2	49
553		RVS001	Revesz Syndrome	49
554	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	49
555	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
556	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	49
557	c	BRD013	Bardet-Biedl Syndrome 12	49
558	P	ERL057	Early Infantile Epileptic Encephalopathy	49
559		FRB001	Farber Lipogranulomatosis	49
560	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	49
561	P	HRN001	Horner's Syndrome	48
562		ACR058	Acrofacial Dysostosis 1, Nager Type	48
563		TBR006	Tuberculoid Leprosy	48
564		RTN023	Retinitis	48
565	c	OPT051	Opitz Gbbb Syndrome, Type I	48
566	P	ANT088	Anterior Segment Dysgenesis	48
567	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	48
568	c	ALB019	Albinism, Oculocutaneous, Type Iv	47
569	c	USH037	Usher Syndrome, Type Iia	47
570	P	MNN019	Mannosidosis, Beta a, Lysosomal	47
571	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	47
572	c	WRD032	Waardenburg Syndrome, Type 2a	47
573	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	47
574		KRT008	Keratopathy	47
575		SYM002	Sympathetic Ophthalmia	47
576	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	47
577	c	WRD020	Waardenburg Syndrome, Type 4a	47
578	c	CHR095	Chronic Progressive External Ophthalmoplegia	47
579		MCR165	Microphthalmia with Limb Anomalies	47
580		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	47
581	P	CRN028	Corneal Ulcer	47
582	c	BRD044	Bardet-Biedl Syndrome 17	47
583	P	DNR001	Duane Retraction Syndrome	46
584	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	46
585		MCL003	Macular Holes	46
586	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	46
587	c	CTS045	Cutis Laxa, Autosomal Dominant 1	46
588	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	46
589	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	46
590	P	SDR002	Siderosis	46
591	c	BRD016	Bardet-Biedl Syndrome 4	46
592	c	RTN172	Retinitis Pigmentosa 1	46
593	c	LKD015	Leukodystrophy, Hypomyelinating, 3	46
594	c	RTN177	Retinitis Pigmentosa 73	46
595	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
596	c	ALB015	Albinism, Oculocutaneous, Type V	46
597	c	WRD019	Waardenburg Syndrome, Type 4b	45
598	c	ART061	Arthrogryposis, Distal, Type 2a	45
599	P	MNN018	Mannosidosis	45
600	c	WRD031	Waardenburg Syndrome, Type 3	45
601	P	GLL032	Galloway-Mowat Syndrome	45
602		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	45
603	c	BRD032	Bardet-Biedl Syndrome 14	45
604		BLL004	Bullous Keratopathy	45
605		IRD001	Iridocyclitis	45
606		CRN024	Corneal Disease	45
607	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
608	c	BRD011	Bardet-Biedl Syndrome 10	45
609		BLP005	Blepharitis	45
610	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	45
611		ATP013	Atopic Keratoconjunctivitis	44
612	c	LKD010	Leukodystrophy, Hypomyelinating, 2	44
613	c	LKD019	Leukodystrophy, Hypomyelinating, 6	44
614	c	NNN013	Noonan Syndrome 6	44
615	c	MCL066	Macular Dystrophy, Vitelliform, 2	44
616	c	OPT050	Opitz Gbbb Syndrome, Type Ii	44
617	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	44
618	c	RTN142	Retinitis Pigmentosa 38	44
619	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	43
620	c	ANT077	Anterior Segment Dysgenesis 1	43
621		VTR005	Vitreous Disease	43
622	c	BRD020	Bardet-Biedl Syndrome 8	43
623	c	ICH049	Ichthyosis, Congenital, Autosomal Recessive 2	43
624	c	NNN011	Noonan Syndrome 4	43
625	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	43
626	c	HYP507	Hypotrichosis 1	43
627	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	43
628		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	43
629		LCR008	Lacrimal Apparatus Disease	43
630		CRN025	Corneal Dystrophy	43
631	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	42
632	c	RTN160	Retinitis Pigmentosa 60	42
633	c	MCK012	Meckel Syndrome, Type 6	42
634		VTR003	Vitreous Detachment	42
635	c	BRD033	Bardet-Biedl Syndrome 13	42
636	P	CRN026	Corneal Edema	42
637	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	42
638	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	42
639	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	42
640	c	BRD048	Bardet-Biedl Syndrome 18	42
641		SPN331	Spondyloocular Syndrome	42
642		ARC023	Arcus Corneae	41
643	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
644	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	41
645		DBT090	Diabetes and Deafness, Maternally Inherited	41
646	c	MCR263	Microphthalmia, Syndromic 1	41
647		VRN001	Vernal Conjunctivitis	41
648		NNC002	Nance-Horan Syndrome	41
649	c	RTN043	Retinitis Pigmentosa 13	41
650	c	ART146	Arthrogryposis, Distal, Type 9	41
651	P	FRN036	Frontonasal Dysplasia 1	41
652	c	BRD015	Bardet-Biedl Syndrome 3	41
653	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	41
654	c	ALB016	Albinism, Oculocutaneous, Type Vii	41
655	c	MCR261	Microphthalmia, Syndromic 2	41
656	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	41
657	c	CNT028	Central Retinal Artery Occlusion	41
658	c	MCK032	Meckel Syndrome, Type 3	41
659		CHR382	Chromosome 18q Deletion Syndrome	41
660	c	GLC083	Glaucoma 3, Primary Infantile, B	40
661		ORB006	Orbital Cellulitis	40
662	c	USH040	Usher Syndrome, Type Id	40
663	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
664		LWT001	Low Tension Glaucoma	40
665		SNL007	Senile Cataract	40
666		PRM024	Primary Angle-Closure Glaucoma	40
667	P	CNG024	Congenital Nystagmus	40
668	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	40
669	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	40
670	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
671	c	GLL038	Galloway-Mowat Syndrome 1	40
672	c	SRC023	Sarcoidosis 2	40
673	c	RTN143	Retinitis Pigmentosa 47	40
674		MRN002	Mooren's Ulcer	40
675	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	40
676		BRB006	Barber-Say Syndrome	40
677		LNS003	Lens Disease	40
678	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	40
679	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	40
680	c	BRD018	Bardet-Biedl Syndrome 6	40
681	c	USH020	Usher Syndrome, Type Iic	40
682		EXT022	Exotropia	40
683	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	40
684	c	CTR098	Cataract 1, Multiple Types	40
685	c	NNN024	Noonan Syndrome 9	40
686	c	NNN021	Noonan Syndrome 8	40
687	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	40
688		HRL004	Hurler-Scheie Syndrome	39
689	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	39
690		OCL010	Ocular Hypotension	39
691		MYP139	Myopathy, Proximal, and Ophthalmoplegia	39
692		CHR386	Chromosome 6pter-P24 Deletion Syndrome	39
693	c	DNR003	Duane Retraction Syndrome 1	39
694	c	BRD035	Bardet-Biedl Syndrome 15	39
695	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
696	c	KNB006	Knobloch Syndrome 1	39
697	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	39
698	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	39
699	c	BRD017	Bardet-Biedl Syndrome 5	39
700		END072	Endotheliitis	39
701	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	39
702		EXC003	Excessive Tearing	39
703	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	38
704		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	38
705		ORB013	Orbital Disease	38
706	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	38
707	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
708	c	ANT086	Anterior Segment Dysgenesis 2	38
709		CRN285	Corneal Dystrophy, Fleck	38
710		DBT007	Diabetic Cataract	38
711		BLT001	Bilateral Retinoblastoma	38
712		HYP084	Hypopyon	38
713		HYP008	Hypertensive Retinopathy	38
714		INT042	Internuclear Ophthalmoplegia	38
715	c	LKD009	Leukodystrophy, Hypomyelinating, 5	38
716		AST003	Asthenopia	38
717		BCK003	Background Diabetic Retinopathy	38
718		FNG016	Fungal Keratitis	38
719	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	38
720	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	38
721	c	MNS014	Monosomy 22	38
722	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	38
723	c	USH039	Usher Syndrome, Type Ic	38
724		HRP025	Herpes Simplex Virus Keratitis	38
725	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	38
726	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	38
727		RBS002	Rubeosis Iridis	38
728	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	38
729	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	38
730		SPP007	Suppression Amblyopia	38
731		CRT012	Cortical Blindness	38
732		CNJ007	Conjunctivochalasis	37
733	c	WRB005	Warburg Micro Syndrome 4	37
734	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
735		CHR079	Choroid Disease	37
736	c	MCK031	Meckel Syndrome, Type 2	37
737	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	37
738	c	PRM032	Primary Congenital Glaucoma	37
739	P	SPS008	Spastic Ataxia	37
740	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
741	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	37
742	c	MTC010	Mitochondrial Dna Depletion Syndrome	37
743	c	RTN136	Retinitis Pigmentosa 44	37
744	c	CNR017	Cone-Rod Dystrophy 9	37
745		OCL004	Ocular Hyperemia	37
746		RTN013	Retinal Hemangioblastoma	37
747		EPC005	Epicanthus	37
748	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
749	c	ATS076	Autosomal Recessive Stickler Syndrome	37
750	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	37
751	c	CNR016	Cone-Rod Dystrophy 7	37
752	c	WRD024	Waardenburg Syndrome, Type 4c	37
753		RCR001	Recurrent Corneal Erosion	37
754		PRS025	Presbyopia	37
755	c	ANT071	Anterior Segment Dysgenesis 4	37
756	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
757	c	LKD008	Leukodystrophy, Hypomyelinating, 4	36
758	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	36
759	c	MCK033	Meckel Syndrome, Type 4	36
760		PPL019	Papillary Conjunctivitis	36
761	c	RTN048	Retinitis Pigmentosa 19	36
762		EPT025	Epithelial Basement Membrane Dystrophy	36
763	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	36
764	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	36
765	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	36
766	c	HYP581	Hypotrichosis 6	36
767	P	JVN008	Juvenile Glaucoma	36
768		MND025	Mandibulofacial Dysostosis with Alopecia	36
769	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	36
770	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	36
771	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	36
772		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	36
773	c	ICH051	Ichthyosis, Congenital, Autosomal Recessive 11	36
774		BLP006	Blepharoconjunctivitis	36
775	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	36
776	c	RTN066	Retinitis Pigmentosa 4	36
777	c	MCK030	Meckel Syndrome, Type 7	36
778	c	NNN025	Noonan Syndrome 10	36
779		GPS001	Gapo Syndrome	36
780	c	RTN044	Retinitis Pigmentosa 14	36
781		BLP001	Blepharochalasis	36
782	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
783		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	36
784	c	RTN131	Retinitis Pigmentosa 27	36
785	c	BRD045	Bardet-Biedl Syndrome 19	36
786	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	36
787		BRN026	Branch Retinal Artery Occlusion	36
788	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
789		SHP001	Shipyard Eye	36
790		MGL003	Megalocornea	36
791		LGH012	Leigh Syndrome with Leukodystrophy	36
792		ANG004	Angioid Streaks	36
793	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	36
794		XRP001	Xerophthalmia	36
795	c	RTN090	Retinitis Pigmentosa 55	36
796	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	35
797		PRM056	Primrose Syndrome	35
798	c	MCK014	Meckel Syndrome, Type 5	35
799		INT082	Intraocular Retinoblastoma	35
800	P	DCR003	Dacryoadenitis	35
801		PNG001	Pinguecula	35
802	c	MCP051	Mucopolysaccharidosis, Type Ix	35
803		PST063	Postsynaptic Congenital Myasthenic Syndromes	35
804	c	ANT023	Anterior Scleritis	35
805	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	35
806	c	LBR007	Leber Congenital Amaurosis 12	35
807		DGN002	Degenerative Myopia	35
808	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	35
809		FRS019	Farsightedness	35
810	c	RTN047	Retinitis Pigmentosa 18	35
811		EPT021	Epithelial Recurrent Erosion Dystrophy	35
812	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	35
813	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	35
814	c	HYP559	Hypotrichosis 8	35
815		EXP002	Exposure Keratitis	35
816	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
817		IRT001	Iritis	35
818	c	RTN054	Retinitis Pigmentosa 25	34
819	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	34
820	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
821		RTN002	Retinal Perforation	34
822	c	RTN186	Retinitis Pigmentosa 75	34
823	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	34
824	c	NNN020	Noonan Syndrome 7	34
825	c	ART147	Arthrogryposis, Distal, Type 7	34
826	c	LBR011	Leber Congenital Amaurosis 16	34
827	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	34
828		SCL013	Scleral Disease	34
829	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	34
830	c	WRB003	Warburg Micro Syndrome 2	34
831		PHT002	Photokeratitis	34
832	c	PST008	Posterior Scleritis	34
833	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	34
834		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	34
835	c	ICH023	Ichthyosis, Acquired	34
836	c	RTN149	Retinitis Pigmentosa 42	34
837	c	RTN055	Retinitis Pigmentosa 26	34
838	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	34
839	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
840	c	JVN038	Juvenile Myasthenia Gravis	34
841	P	BST001	Bestrophinopathy	34
842		BSL037	Basal Laminar Drusen	34
843	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
844	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	34
845		PHR002	Pharyngoconjunctival Fever	34
846	c	BRD047	Bardet-Biedl Syndrome 16	34
847	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	34
848		SVR002	Severe Nonproliferative Diabetic Retinopathy	34
849	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	33
850	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	33
851	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	33
852	c	ORT011	Orthostatic Hypotension 1	33
853	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	33
854	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
855	c	MYS011	Myasthenia Gravis Congenital	33
856	c	RTN165	Retinitis Pigmentosa 68	33
857	c	WRD010	Waardenburg Syndrome Type 4	33
858	c	CTR118	Cataract 14, Multiple Types	33
859	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	33
860		ORB008	Orbital Plasma Cell Granuloma	33
861	c	RTN062	Retinitis Pigmentosa 33	33
862		FLM001	Filamentary Keratitis	33
863	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	33
864	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	33
865		LCR001	Lacrimal Duct Obstruction	33
866		UNL002	Unilateral Retinoblastoma	33
867	c	CNG379	Congenital Disorder of Glycosylation, Type It	33
868	c	RTN059	Retinitis Pigmentosa 30	33
869	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
870		HRD016	Hereditary Retinal Dystrophy	33
871	P	WRB001	Warburg Micro Syndrome	33
872		CRN274	Corneal Dystrophy, Posterior Amorphous	33
873		CRN288	Corneal Dystrophy, Band-Shaped	33
874		OLV004	Oliver-Mcfarlane Syndrome	33
875	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
876		CLR133	Colorblindness, Partial, Protan Series	33
877	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	33
878		ENT005	Entropion	32
879		PNC012	Punctate Epithelial Keratoconjunctivitis	32
880	c	RTN042	Retinitis Pigmentosa 12	32
881	c	ACT047	Acute Endophthalmitis	32
882	c	CNG195	Congenital Disorder of Glycosylation, Type Id	32
883		DSS006	Disuse Amblyopia	32
884	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	32
885	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
886		ANG062	Angioosteohypertrophic Syndrome	32
887	c	RTN133	Retinitis Pigmentosa 43	32
888	c	RTN056	Retinitis Pigmentosa 28	32
889	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	32
890	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	32
891		END034	Endocrine Exophthalmos	32
892	P	KNB001	Knobloch Syndrome	32
893		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	32
894		ISL062	Isolated Plagiocephaly	32
895	c	RTN050	Retinitis Pigmentosa 20	32
896		STR046	Stargardt Macular Degeneration	32
897	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	32
898	c	ORT012	Orthostatic Hypotension 2	32
899	c	WLL036	Weill-Marchesani Syndrome 1	32
900		CRN273	Corneal Dystrophy, Subepithelial Mucinous	32
901	c	RTN067	Retinitis Pigmentosa 41	32
902	c	RTN129	Retinitis Pigmentosa 49	31
903	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	31
904		ANS004	Anisometropia	31
905	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	31
906	P	DCR004	Dacryocystitis	31
907	c	CNR013	Cone-Rod Dystrophy 12	31
908	c	GLC041	Glaucoma 1, Open Angle, a	31
909	P	CRN249	Cornea Plana	31
910	c	RTN134	Retinitis Pigmentosa 40	31
911	c	MCK034	Meckel Syndrome, Type 8	31
912		RDG001	Red-Green Color Blindness	31
913	c	RTN046	Retinitis Pigmentosa 17	31
914	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	31
915	c	SPS031	Spastic Paraplegia 23	31
916		HYD007	Hydrophthalmos	31
917	c	HYP515	Hypotrichosis 3	31
918	c	CND011	Cone Dystrophy 3	31
919	P	ACT028	Acute Closed-Angle Glaucoma	31
920	c	RTN064	Retinitis Pigmentosa 35	31
921	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	31
922	c	RTN116	Retinitis Pigmentosa 56	31
923	P	SPS012	Spastic Paraplegia 3a	31
924	P	HYP700	Hypomyelinating Leukodystrophy	31
925	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	31
926	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
927	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	31
928	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	31
929	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	31
930	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	31
931		ACT038	Acute Retrobulbar Neuritis	31
932	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
933	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	31
934	c	LBR013	Leber Congenital Amaurosis 3	30
935	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	30
936	c	RTN169	Retinitis Pigmentosa 70	30
937		ENP001	Enophthalmos	30
938	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	30
939		IRS003	Iris Disease	30
940	c	RTN114	Retinitis Pigmentosa 58	30
941	c	BRD019	Bardet-Biedl Syndrome 7	30
942	c	CRN109	Cranioectodermal Dysplasia 2	30
943	c	BST008	Bestrophinopathy, Autosomal Recessive	30
944	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
945		HYP048	Hypotropia	30
946	c	ACQ027	Acquired Cutis Laxa	30
947		BRD005	Borderline Leprosy	30
948		CNJ001	Conjugate Gaze Palsy	30
949	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	30
950	c	WLL037	Weill-Marchesani Syndrome 2	30
951		STR019	Steroid-Induced Glaucoma	30
952	c	ICH038	Ichthyosis, Congenital, Autosomal Recessive 3	30
953	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
954	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	30
955		RTN006	Retinal Drusen	30
956	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	30
957		LNS001	Lens Subluxation	30
958		LGP001	Lagophthalmos	30
959	c	RTN171	Retinitis Pigmentosa 59	30
960		CRN010	Corneal Granular Dystrophy	30
961	c	RTN210	Retinitis Pigmentosa 50	30
962	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	30
963	c	RTN152	Retinitis Pigmentosa 66	30
964	c	PRX060	Peroxisome Biogenesis Disorder 5a	30
965	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
966		IMM002	Immature Cataract	30
967		CNG005	Congenital Aphakia	30
968	P	VTR008	Vitreoretinal Degeneration	30
969	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	30
970	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	30
971	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
972		CNJ017	Conjunctival Nevus	29
973	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
974		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	29
975	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
976		STR086	Stromal Dystrophy	29
977	c	SPS039	Spastic Paraplegia 5a	29
978	c	CTR096	Cataract 6, Multiple Types	29
979	c	RBN008	Rubinstein-Taybi Syndrome 2	29
980	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	29
981	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	29
982		CYC001	Cycloplegia	29
983	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	29
984		SVN002	Sveinsson Chorioretinal Atrophy	29
985	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	29
986	c	ANR046	Aniridia 3	29
987	c	ART112	Arthrogryposis, Distal, Type 10	29
988	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
989	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
990	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	29
991	c	ICH040	Ichthyosis, Congenital, Autosomal Recessive 4a	29
992	c	MTC074	Metachromatic Leukodystrophy, Adult Form	29
993	c	PRX056	Peroxisome Biogenesis Disorder 11b	29
994		HYP047	Hypertropia	29
995	c	HYP525	Hypotrichosis 2	29
996		ACT022	Acute Retinal Necrosis Syndrome	29
997		SPS002	Spastic Entropion	28
998	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	28
999	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	28
1000	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	28
1001	c	HYP577	Hypotrichosis 13	28
1002	c	SPS092	Spastic Paraplegia 11	28
1003	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	28
1004	c	ERL012	Early-Onset Glaucoma	28
1005		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	28
1006	c	CHR054	Chronic Closed-Angle Glaucoma	28
1007	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	28
1008	c	INF019	Infectious Anterior Uveitis	28
1009	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	28
1010		LRY022	Laryngoonychocutaneous Syndrome	28
1011	P	SCL047	Sclerocornea	28
1012	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
1013		RTN019	Retinal Telangiectasia	28
1014		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	28
1015	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	28
1016	c	RTN106	Retinitis Pigmentosa 51	28
1017	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	28
1018	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	28
1019	c	ICH042	Ichthyosis, Congenital, Autosomal Recessive 6	28
1020	c	LKD018	Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	28
1021	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	28
1022	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	28
1023	c	ART104	Arthrogryposis, Distal, Type 5d	28
1024		SCL014	Scleral Staphyloma	28
1025	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	28
1026	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	28
1027	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	28
1028		SNL004	Senile Ectropion	28
1029	c	ANT084	Anterior Segment Dysgenesis 3	28
1030	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	28
1031	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	28
1032	c	PRX048	Peroxisome Biogenesis Disorder 10a	28
1033	c	PRX054	Peroxisome Biogenesis Disorder 12a	28
1034	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
1035		LKC002	Leukocoria	28
1036	c	LPR022	Leprosy 2	27
1037		CRN009	Corneal Ectasia	27
1038		SLF015	Self-Improving Collodion Baby	27
1039		RGL001	Regular Astigmatism	27
1040		OLG014	Oligocone Trichromacy	27
1041	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	27
1042	c	FRN033	Frontonasal Dysplasia 2	27
1043	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	27
1044	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
1045		PRL014	Paralytic Squint	27
1046		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	27
1047	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	27
1048	c	CTR174	Cataract 40	27
1049	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	27
1050	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	27
1051	c	INF122	Infantile Krabbe Disease	27
1052		MNS013	Monosomy 13q34	27
1053		IRR001	Irregular Astigmatism	27
1054	c	LBR009	Leber Congenital Amaurosis 14	27
1055		CHR053	Chronic Follicular Conjunctivitis	27
1056	c	RTN146	Retinitis Pigmentosa 62	27
1057	c	FML299	Familial Adenomatous Polyposis 3	27
1058		CLS047	Classic Progressive Supranuclear Palsy Syndrome	27
1059	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	27
1060		CNJ010	Conjunctival Degeneration	27
1061		ISL011	Isolated Aniridia	27
1062		PRF002	Perforated Corneal Ulcer	27
1063	c	PRX051	Peroxisome Biogenesis Disorder 6a	27
1064		TTR023	Tetraamelia-Multiple Malformations Syndrome	27
1065	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	27
1066		CCT001	Cicatricial Ectropion	27
1067	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
1068	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	27
1069		VST003	Vestibular Nystagmus	26
1070	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
1071		ACC003	Accommodative Esotropia	26
1072	c	MCR352	Microphthalmia, Isolated, with Coloboma 6	26
1073	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	26
1074	c	RTN052	Retinitis Pigmentosa 23	26
1075	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	26
1076	c	SPS036	Spastic Paraplegia 3	26
1077	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	26
1078	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	26
1079	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
1080	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	26
1081	c	SPS091	Spastic Paraplegia 4	26
1082	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	26
1083	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	26
1084	c	SPS021	Spastic Paraplegia 10	26
1085	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	26
1086	c	BRD021	Bardet-Biedl Syndrome 9	26
1087		CHR077	Chorioretinal Scar	26
1088		MCH006	Mechanical Strabismus	26
1089	c	LKD020	Leukodystrophy, Hypomyelinating, 10	26
1090		CLR132	Colorblindness, Partial, Deutan Series	26
1091	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
1092	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	26
1093		PSD004	Pseudomembranous Conjunctivitis	26
1094	c	ICH050	Ichthyosis, Congenital, Autosomal Recessive 5	26
1095		ISL089	Isolated Scaphocephaly	26
1096	c	RTN176	Retinitis Pigmentosa 71	26
1097		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	26
1098	c	ALB017	Albinism, Oculocutaneous, Type Vi	26
1099		BRN041	Bornholm Eye Disease	26
1100	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
1101	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
1102	c	GLL040	Galloway-Mowat Syndrome 3	26
1103	c	HRD186	Hereditary Spastic Paraplegia 51	26
1104	c	BRD050	Bardet-Biedl Syndrome 21	26
1105		BTT011	Butterfly-Shaped Pigment Dystrophy	26
1106	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
1107	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	26
1108	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
1109	c	KBK003	Kabuki Syndrome 2	26
1110	P	PRM227	Primary Orthostatic Hypotension	26
1111		MRG001	Morgagni Cataract	26
1112	c	CRN110	Cranioectodermal Dysplasia 3	26
1113	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	26
1114		SPR019	Superficial Keratitis	26
1115	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
1116	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	25
1117	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	25
1118		SVR058	Severe Early-Childhood-Onset Retinal Dystrophy	25
1119	c	PRX050	Peroxisome Biogenesis Disorder 9b	25
1120		ORB007	Orbital Cyst	25
1121	c	RTN060	Retinitis Pigmentosa 31	25
1122	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
1123		VTR001	Vitreoretinal Dystrophy	25
1124		TTR027	Tetrasomy 15q26	25
1125		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	25
1126	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	25
1127		OPH001	Ophthalmomyiasis	25
1128	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	25
1129	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	25
1130	c	CRN120	Corneal Dystrophy, Fuchs Endothelial, 3	25
1131	c	ICH044	Ichthyosis, Congenital, Autosomal Recessive 8	25
1132		TTR019	Tetrasomy 5p	25
1133		STC017	Stickler Syndrome, Type I, Nonsyndromic Ocular	25
1134	c	PRX046	Peroxisome Biogenesis Disorder 7a	25
1135	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
1136	c	MCR212	Microphthalmia, Syndromic 12	25
1137	c	PRX091	Peroxisome Biogenesis Disorder 8a	25
1138		PNP001	Panophthalmitis	25
1139		CRN128	Corneal Dystrophy, Endothelial, X-Linked	25
1140	c	ART122	Arthrogryposis, Distal, Type 8	25
1141		MTR001	Mature Cataract	25
1142	c	PRX057	Peroxisome Biogenesis Disorder 4a	25
1143	c	CHR093	Chronic Orbital Inflammation	25
1144		CRN022	Corneal Degeneration	25
1145	c	SPS025	Spastic Paraplegia 15	25
1146		ISL061	Isolated Brachycephaly	25
1147	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	25
1148		PGM007	Pigmented Paravenous Chorioretinal Atrophy	25
1149	c	PRX065	Peroxisome Biogenesis Disorder 3a	25
1150	c	MCK028	Meckel Syndrome 13	25
1151	c	FRN032	Frontonasal Dysplasia 3	25
1152		IND004	Indeterminate Leprosy	25
1153		RTN004	Retinal Microaneurysm	25
1154	P	RTN102	Retinitis Pigmentosa, Y-Linked	25
1155	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	25
1156		ISL087	Isolated Oxycephaly	25
1157		HRD019	Hereditary Choroidal Atrophy	25
1158	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	25
1159	c	ANT085	Anterior Segment Dysgenesis 5	25
1160	c	PRX043	Peroxisome Biogenesis Disorder 6b	25
1161	c	ANT083	Anterior Segment Dysgenesis 7	25
1162	c	PSD047	Pseudo-Turner Syndrome	25
1163	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	24
1164	c	FML339	Familial Adenomatous Polyposis 4	24
1165	c	KRT029	Keratoconus 1	24
1166	c	GLC078	Glaucoma 1, Open Angle, F	24
1167	c	RTN178	Retinitis Pigmentosa 72	24
1168	c	RTN159	Retinitis Pigmentosa 45	24
1169	c	RTN190	Retinitis Pigmentosa 76	24
1170		ALT003	Alternating Exotropia	24
1171	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	24
1172		RTN174	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome	24
1173	c	LKD016	Leukodystrophy, Hypomyelinating, 9	24
1174	c	LKD030	Leukodystrophy, Hypomyelinating, 17	24
1175	P	NNT006	Neonatal Myasthenia Gravis	24
1176	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	24
1177		CRN004	Corneal Abscess	24
1178		KRT057	Keratosis Follicularis Spinulosa Decalvans, X-Linked	24
1179		MTC181	Mitochondrial Dna-Related Progressive External Ophthalmoplegia	24
1180		PHK008	Phakomatosis Cesioflammea	24
1181	c	FML347	Familial Adenomatous Polyposis 2	24
1182	c	WLL040	Weill-Marchesani Syndrome 4	24
1183	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	24
1184	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	24
1185		PRT101	Poretti-Boltshauser Syndrome	24
1186	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	24
1187		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	24
1188	c	CRN111	Cranioectodermal Dysplasia 4	24
1189		MNC001	Monocular Esotropia	24
1190	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	24
1191	c	PRX052	Peroxisome Biogenesis Disorder 13a	24
1192	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	24
1193	c	SPS027	Spastic Paraplegia 17	24
1194	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
1195		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	24
1196	c	WLL038	Weill-Marchesani Syndrome 3	24
1197	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	24
1198	c	RTN141	Retinitis Pigmentosa 39	24
1199	c	CHR060	Chronic Dacryocystitis	24
1200	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	24
1201		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	24
1202	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	24
1203	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	24
1204	c	ICH045	Ichthyosis, Congenital, Autosomal Recessive 7	24
1205	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	24
1206	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	24
1207	c	MCR228	Microphthalmia, Syndromic 13	24
1208	P	XLN065	X-Linked Infantile Nystagmus	24
1209	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	24
1210	c	RTN147	Retinitis Pigmentosa 48	23
1211	P	PST016	Posterior Polar Cataract	23
1212		ISL019	Isolated Duane Retraction Syndrome	23
1213	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	23
1214	c	MCK035	Meckel Syndrome, Type 10	23
1215	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	23
1216		ANS002	Aniseikonia	23
1217	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	23
1218	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	23
1219	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	23
1220		TRM002	Traumatic Glaucoma	23
1221	c	WRD029	Waardenburg Syndrome, Type 2b	23
1222	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	23
1223	c	STR040	Stargardt Disease 3	23
1224	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	23
1225	c	WRB004	Warburg Micro Syndrome 3	23
1226		PRT032	Partial Central Choroid Dystrophy	23
1227		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	23
1228	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	23
1229		INT012	Interval Angle-Closure Glaucoma	23
1230	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	23
1231		DRM043	Dermochondrocorneal Dystrophy	23
1232	c	ART128	Arthrogryposis, Distal, Type 6	23
1233		SHR065	Short Stature with Microcephaly and Distinctive Facies	23
1234	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	23
1235	c	PRX058	Peroxisome Biogenesis Disorder 4b	23
1236	c	LKD023	Leukodystrophy, Hypomyelinating, 12	23
1237	c	PRX047	Peroxisome Biogenesis Disorder 5b	23
1238	c	RTN085	Retinitis Pigmentosa 54	23
1239	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	23
1240		SHK001	Shaken Baby Syndrome	23
1241	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	23
1242	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	23
1243	c	PRX062	Peroxisome Biogenesis Disorder 8b	23
1244	c	LKD021	Leukodystrophy, Hypomyelinating, 11	23
1245	c	BRD051	Bardet-Biedl Syndrome 20	23
1246	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	23
1247		MSC089	Mosaic Monosomy X	23
1248		PRL018	Purulent Endophthalmitis	23
1249	c	RTN213	Retinitis Pigmentosa 80	23
1250	c	WRD022	Waardenburg Syndrome, Type 2d	23
1251	c	LBR010	Leber Congenital Amaurosis 15	23
1252	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	23
1253	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
1254	c	RTN144	Retinitis Pigmentosa 61	23
1255	c	CNR032	Cone-Rod Dystrophy 21	23
1256	c	SPS013	Spastic Paraplegia 8	23
1257	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	23
1258	c	CRB170	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2	22
1259	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	22
1260	c	ART131	Arthrogryposis, Distal, Type 4	22
1261		DPT001	Dipetalonemiasis	22
1262	c	ADL084	Adult-Onset Myasthenia Gravis	22
1263	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	22
1264	c	SPS020	Spastic Paraplegia 1	22
1265	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	22
1266		3MC004	3mc Syndrome 3	22
1267	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	22
1268	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	22
1269		KRT074	Keratoendotheliitis Fugax Hereditaria	22
1270		CMB018	Combined Oxidative Phosphorylation Deficiency 7	22
1271	c	LKD028	Leukodystrophy, Hypomyelinating, 15	22
1272		PHC001	Phacolytic Glaucoma	22
1273	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	22
1274	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	22
1275	c	GLL041	Galloway-Mowat Syndrome 4	22
1276		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	22
1277	P	MNS011	Monosomy 9q22.3	22
1278	c	CNR026	Cone-Rod Dystrophy 18	22
1279	c	CNR021	Cone-Rod Dystrophy 10	22
1280	c	CTR124	Cataract 10, Multiple Types	22
1281	c	MCR217	Microphthalmia, Syndromic 11	22
1282	c	HRN024	Horner Syndrome, Congenital	22
1283		RTN212	Retinal Dystrophy with or Without Macular Staphyloma	22
1284	c	NLX003	Neu-Laxova Syndrome 2	22
1285	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	22
1286		FLY003	Flynn-Aird Syndrome	22
1287	c	MCL073	Macular Dystrophy, Vitelliform, 1	22
1288	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	22
1289	c	MCK026	Meckel Syndrome 12	22
1290	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	22
1291	c	HYP578	Hypotrichosis 12	22
1292	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	22
1293	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	22
1294	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	22
1295	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	22
1296	c	GLL042	Galloway-Mowat Syndrome 5	22
1297	c	HYP576	Hypotrichosis 4	22
1298	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	22
1299	c	RTN117	Retinitis Pigmentosa 57	22
1300	c	LBR029	Leber Congenital Amaurosis 17	22
1301	c	RTN157	Retinitis Pigmentosa 37	22
1302	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	22
1303	P	ERL043	Early-Onset Nuclear Cataract	22
1304	c	CNR012	Cone-Rod Dystrophy 11	22
1305	c	CNR025	Cone-Rod Dystrophy 15	22
1306		ERY043	Euryblepharon	22
1307	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	22
1308	c	CNR024	Cone-Rod Dystrophy 13	21
1309	c	CRN147	Corneal Dystrophy, Fuchs Endothelial, 6	21
1310	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	21
1311	c	MNS008	Monosomy 21	21
1312	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	21
1313	c	TRC073	Treacher Collins Syndrome 2	21
1314	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	21
1315	c	RTN195	Retinitis Pigmentosa 79	21
1316		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	21
1317	c	ATP003	Atp6v0a2-Related Cutis Laxa	21
1318	c	PRX066	Peroxisome Biogenesis Disorder 3b	21
1319	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	21
1320	P	IDP049	Idiopathic Anterior Uveitis	21
1321	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	21
1322	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	21
1323	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	21
1324		EXT029	Extraocular Retinoblastoma	21
1325	c	RTN065	Retinitis Pigmentosa 36	21
1326		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	21
1327	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	21
1328	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	21
1329	c	ICH048	Ichthyosis, Congenital, Autosomal Recessive 9	21
1330	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	21
1331	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	21
1332		OCL070	Oculopalatocerebral Syndrome	21
1333	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	21
1334	c	LKD027	Leukodystrophy, Hypomyelinating, 14	21
1335	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	21
1336		CRT069	Cortical Malformations, Occipital	21
1337	c	ICH039	Ichthyosis, Congenital, Autosomal Recessive 10	21
1338	c	CNR030	Cone-Rod Dystrophy 20	21
1339		CNR033	Cone-Rod Synaptic Disorder, Congenital Nonprogressive	21
1340		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	21
1341	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	21
1342	c	SPS037	Spastic Paraplegia 31	21
1343		BTH002	Bothnia Retinal Dystrophy	21
1344	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	21
1345		TCT002	Tactile Agnosia	21
1346		SPS087	Spasmus Nutans	21
1347		HRR005	Harrod Syndrome	21
1348		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	21
1349	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	21
1350	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	21
1351	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	21
1352	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	21
1353		DPK001	Deep Keratitis	21
1354	c	LKD029	Leukodystrophy, Hypomyelinating, 16	21
1355	c	ACT037	Acute Dacryocystitis	21
1356	P	NNP011	Nanophthalmos 2	20
1357		ALT004	Alternating Esotropia	20
1358		ORB010	Orbital Granuloma	20
1359		DCR002	Dacryocystocele	20
1360	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	20
1361	c	RTN130	Retinitis Pigmentosa 46	20
1362	c	RTN192	Retinitis Pigmentosa 77	20
1363		ISL084	Isolated Trigonocephaly	20
1364	c	CTR182	Cataract 23, Multiple Types	20
1365	c	STC012	Stickler Syndrome, Type Iv	20
1366	c	RTN181	Retinitis Pigmentosa 2, X-Linked	20
1367	c	ICH072	Ichthyosis, Congenital, Autosomal Recessive 14	20
1368		SWN003	Sweeney-Cox Syndrome	20
1369		GRM003	German Syndrome	20
1370		SCL011	Sclerosing Keratitis	20
1371		ACC002	Accommodative Spasm	20
1372		CRN007	Corneal Staphyloma	20
1373		ORB019	Orbital Margin, Hypoplasia of	20
1374		EYD001	Eye Degenerative Disease	20
1375	P	PRX064	Peroxisome Biogenesis Disorder 2b	20
1376	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	20
1377	c	SPS041	Spastic Paraplegia 6	20
1378		NTH002	Nathalie Syndrome	20
1379	c	CRN143	Corneal Dystrophy, Fuchs Endothelial, 4	20
1380	c	MCR272	Microcephaly and Chorioretinopathy, Autosomal Recessive, 3	20
1381		SLR002	Solar Retinopathy	20
1382	c	MCR350	Microphthalmia, Isolated, with Coloboma 5	20
1383		MCR220	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus	20
1384	c	GLC054	Glaucoma 3, Primary Congenital, D	20
1385	c	CTR176	Cataract, Age-Related Nuclear	20
1386	c	CTR136	Cataract 41	20
1387	c	MCK036	Meckel Syndrome, Type 9	20
1388	c	LPR023	Leprosy 1	20
1389	c	PRX089	Peroxisome Biogenesis Disorder 10b	20
1390		RTN216	Retinitis Pigmentosa 82 with or Without Situs Inversus	20
1391	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	20
1392		OCL057	Oculotrichodysplasia	20
1393	c	STC011	Stickler Syndrome, Type V	19
1394	c	PRX068	Peroxisome Biogenesis Disorder 7b	19
1395		CRN126	Corneal Dystrophy, Lisch Epithelial	19
1396	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	19
1397	c	SPS023	Spastic Paraplegia 13	19
1398		SPN356	Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia	19
1399	c	EXD007	Exudative Vitreoretinopathy 3	19
1400		GRW033	Growth Retardation, Small and Puffy Hands and Feet, and Eczema	19
1401		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	19
1402		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	19
1403	c	ART060	Arthrogryposis, Distal, Type 1b	19
1404	c	MCR214	Microphthalmia, Isolated, with Coloboma 9	19
1405	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	19
1406	c	CRB168	Cerebroretinal Microangiopathy with Calcifications and Cysts 2	19
1407	c	MCR210	Microphthalmia, Isolated, with Coloboma 7	19
1408	c	RTN196	Retinitis Pigmentosa 78	19
1409		CMB076	Combined Oxidative Phosphorylation Deficiency 31	19
1410	P	MCR349	Microphthalmia, Isolated, with Coloboma 3	19
1411		PPL023	Pupil Disease	19
1412		ITR001	Iatrogenic Botulism	19
1413		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	19
1414		PHL001	Phlyctenulosis	19
1415	c	HYP573	Hypotrichosis 5	19
1416	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	19
1417		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	19
1418	c	RTN180	Retinitis Pigmentosa 74	19
1419		ARG003	Argyll Robertson Pupil	19
1420		MCR307	Microspherophakia-Metaphyseal Dysplasia	19
1421	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	19
1422	c	MCK020	Meckel Syndrome, Type 11	19
1423	c	SPS028	Spastic Paraplegia 18	19
1424		CRN023	Corneal Deposit	19
1425	c	ACQ050	Acquired Schizencephaly	19
1426	c	SPS042	Spastic Paraplegia 9	18
1427	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	18
1428		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	18
1429		DST044	Distal Trisomy 14q	18
1430		PHK010	Phakomatosis Spilorosea	18
1431		NWF001	Newfoundland Rod-Cone Dystrophy	18
1432		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	18
1433	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	18
1434		FCL013	Focal Chorioretinitis	18
1435	c	SPR049	Supranuclear Palsy, Progressive, 2	18
1436	c	DNR004	Duane Retraction Syndrome 2	18
1437		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	18
1438	c	ANT067	Anterior Segment Dysgenesis 8	18
1439	c	ANT087	Anterior Segment Dysgenesis 6	18
1440	c	ICH070	Ichthyosis, Congenital, Autosomal Recessive 13	18
1441	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	18
1442	c	NYS003	Nystagmus 2, Congenital, Autosomal Dominant	18
1443		SNL001	Senile Entropion	18
1444		VTR002	Vitreous Syneresis	18
1445	c	WRD026	Waardenburg Syndrome, Type 2c	18
1446		MCR317	Macrophthalmia, Colobomatous, with Microcornea	18
1447	c	EPL232	Epileptic Encephalopathy, Early Infantile, 68	18
1448	c	SPS034	Spastic Paraplegia 26	18
1449		INT313	Intellectual Developmental Disorder with Cardiac Arrhythmia	18
1450	c	CRN280	Cornea Plana 2, Autosomal Recessive	18
1451	c	CHR059	Chronic Endophthalmitis	18
1452	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	18
1453	c	TRN062	Transient Neonatal Myasthenia Gravis	18
1454		IDP006	Idiopathic Corneal Edema	18
1455		DST036	Distal Trisomy 15q	18
1456		MNT308	Mental Retardation with Optic Atrophy, Deafness, and Seizures	18
1457	c	RTN214	Retinitis Pigmentosa 81	18
1458	c	SPS032	Spastic Paraplegia 24	18
1459		RTN170	Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities	18
1460	c	CNR029	Cone-Rod Dystrophy 19	18
1461	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	18
1462	c	MCR271	Microphthalmia, Isolated, with Coloboma 10	18
1463		OPH014	Ophthalmomandibulomelic Dysplasia	18
1464		RTN185	Retinal Dysplasia, Primary	17
1465	c	NNP012	Nanophthalmos 4	17
1466		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	17
1467		ABN001	Abnormal Retinal Correspondence	17
1468		EPB002	Epiblepharon	17
1469	c	SX2003	Six2-Related Frontonasal Dysplasia	17
1470	c	HYP528	Hypotrichosis 11	17
1471		SCL008	Scleromalacia Perforans	17
1472		CTR107	Cataract 13 with Adult I Phenotype	17
1473	c	NYS012	Nystagmus 5, Congenital, X-Linked	17
1474		NMN008	Niemann-Pick Disease Type C, Severe Perinatal Form	17
1475	c	EPL233	Epileptic Encephalopathy, Early Infantile, 69	17
1476	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	17
1477		CCT003	Cicatricial Entropion	17
1478		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	17
1479	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	17
1480	c	NYS005	Nystagmus 4, Congenital, Autosomal Dominant	17
1481	c	NNP017	Nanophthalmos 1	17
1482	c	GLC089	Glaucoma 3, Primary Congenital, E	17
1483	c	SPS029	Spastic Paraplegia 19	17
1484		MYP060	Myopic Macular Degeneration	17
1485		AQS001	Aqueous Misdirection	17
1486		PLS001	Pulsating Exophthalmos	17
1487	c	SPS033	Spastic Paraplegia 25	17
1488	c	SPS035	Spastic Paraplegia 29	17
1489	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	17
1490	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	17
1491	c	SRC024	Sarcoidosis 3	17
1492		PHC002	Phacogenic Glaucoma	17
1493		BLT023	Bilateral Acute Depigmentation of the Iris	17
1494	c	RTN217	Retinitis Pigmentosa 83	17
1495	c	ICH071	Ichthyosis, Congenital, Autosomal Recessive 12	17
1496		MNF001	Monofixation Syndrome	17
1497		HYP667	Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	17
1498	c	NYS013	Nystagmus 6, Congenital, X-Linked	16
1499		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
1500	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	16
1501		PHC015	Phacoanaphylactic Uveitis	16
1502		BLN008	Blind Hypotensive Eye	16
1503	c	EPL234	Epileptic Encephalopathy, Early Infantile, 70	16
1504	P	MCL035	Macular Dystrophy, Retinal, 2	16
1505		ESS005	Essential Iris Atrophy	16
1506		HRD017	Hordeolum Externum	16
1507	c	SPS026	Spastic Paraplegia 16	16
1508		CRY030	Cryptophthalmos, Unilateral or Bilateral, Isolated	16
1509	c	SPS080	Spastic Paraplegia 51	16
1510	c	SPS161	Spastic Paraplegia 32	16
1511		NSL017	Nasolacrimal Duct Cyst	16
1512	c	ART054	Arthrogryposis, Distal, Type 2e	16
1513	c	MCL039	Macular Degeneration, Age-Related, 8	16
1514	P	ACT077	Acute Orbital Inflammation	16
1515	c	MCR335	Microphthalmia, Isolated, with Coloboma 4	16
1516	c	CRN279	Cornea Plana 1, Autosomal Dominant	16
1517	c	KRT052	Keratoconus 6	16
1518		CNJ002	Conjunctival Folliculosis	16
1519		CLM004	Climatic Droplet Keratopathy	16
1520	c	HRD188	Hereditary Spastic Paraplegia 72	16
1521	c	STC007	Stickler Syndrome, Type 3	16
1522	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	16
1523	c	RTN218	Retinitis Pigmentosa 84	16
1524	c	RRM004	Rrm2b-Related Mitochondrial Dna Depletion Syndrome	16
1525		EXP003	Exophthalmic Ophthalmoplegia	16
1526		NCL001	Nuclear Senile Cataract	16
1527	c	SPS022	Spastic Paraplegia 12	16
1528	c	LTB003	Ltbp4-Related Cutis Laxa	16
1529		PDT010	Pediatric Intraocular Retinoblastoma	16
1530		AST004	Astereognosia	16
1531	c	TYS005	Tay-Sachs Disease, B1 Variant	16
1532		PDT013	Pediatric Extraocular Retinoblastoma	16
1533		HYD049	Hydrocephalus with Cerebellar Agenesis	16
1534	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	15
1535		NND003	Non-Distal Trisomy 10q	15
1536	c	MCR338	Microphthalmia, Isolated, with Coloboma 1	15
1537	c	HYP551	Hypotrichosis 9	15
1538	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	15
1539	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	15
1540	c	SPS024	Spastic Paraplegia 14	15
1541		RTC011	Reticular Dystrophy of Retinal Pigment Epithelium	15
1542	c	CRN218	Corneal Dystrophy, Fuchs Endothelial, 8	15
1543		ORB003	Orbital Tenonitis	15
1544	c	SPS038	Spastic Paraplegia 39	15
1545		VCL007	Vocal Cord Paralysis and Ptosis	15
1546	P	GLC100	Glaucoma 1, Open Angle, D	15
1547	c	GLC099	Glaucoma 1, Primary Open Angle, C	15
1548	c	HYP544	Hypotrichosis 10	15
1549	c	KRT075	Keratoconus 9	15
1550	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	15
1551		PRS110	Persistent Placoid Maculopathy	15
1552		DST082	Distal Trisomy 10q	15
1553	c	KRT053	Keratoconus 7	15
1554	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	15
1555	c	RTN208	Retinopathy, Pericentral Pigmentary, Autosomal Recessive	15
1556	c	NYS004	Nystagmus 3, Congenital, Autosomal Dominant	15
1557		INH013	Inhalational Botulism	15
1558		CRT080	Cortical Blindness, Retardation, and Postaxial Polydactyly	15
1559		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	15
1560	P	RTN200	Retinopathy, Pericentral Pigmentary, Dominant	14
1561		IGG009	Igg4-Related Ophthalmic Disease	14
1562		ARC020	Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	14
1563		PRL006	Paralytic Lagophthalmos	14
1564	c	MCL026	Macular Dystrophy, Retinal, 3	14
1565		EPT023	Epithelial and Subepithelial Dystrophy	14
1566	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	14
1567		ANR041	Aniridia-Intellectual Disability Syndrome	14
1568		DSS005	Dissociated Nystagmus	14
1569	c	EFM001	Efemp2-Related Cutis Laxa	14
1570	c	ACQ026	Acquired Pseudoxanthoma Elasticum	14
1571		ACR078	Acral Self-Healing Collodion Baby	14
1572	c	LPR017	Leprosy 5	14
1573	c	KRT050	Keratoconus 5	14
1574		EPT024	Epithelial-Stromal Tgfbi Dystrophy	14
1575	c	FRM005	Frmd7-Related Infantile Nystagmus	14
1576		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	14
1577		MYC004	Mycotic Corneal Ulcer	14
1578	P	JVN036	Juvenile Sialidosis Type 2	14
1579		CYC003	Cyclotropia	14
1580		NND004	Non-Distal Monosomy 10q	14
1581	c	MCR346	Microphthalmia, Isolated, with Coloboma 2	14
1582		GNR029	Generalized Galactose Epimerase Deficiency	14
1583	c	PSD023	Pseudo-Gaucher Disease	14
1584		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1585		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	14
1586	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	14
1587		CNT088	Central Cloudy Dystrophy of Francois	14
1588	c	GLC052	Glaucoma 3, Primary Congenital, C	14
1589	c	NYS016	Nystagmus 7, Congenital, Autosomal Dominant	14
1590	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	13
1591	c	GLC101	Glaucoma 1, Open Angle, B	13
1592	c	ATS413	Autosomal Recessive Anterior Segment Dysgenesis	13
1593		CLF040	Cleft Lip-Retinopathy Syndrome	13
1594		EYC003	Eye Accommodation Disease	13
1595	P	MTC014	Mitochondrial Dna Deletion Syndromes	13
1596	c	GLC060	Glaucoma 1, Open Angle, G	13
1597		ORB018	Orbital Leiomyoma	13
1598	c	LPR016	Leprosy 4	13
1599	c	KRT041	Keratoconus 4	13
1600	c	INF152	Infectious Posterior Uveitis	13
1601		TXN001	Toxin-Mediated Infectious Botulism	13
1602		ANG003	Angelucci's Syndrome	13
1603	c	GLC051	Glaucoma 1, Open Angle, M	13
1604	c	SCL053	Sclerocornea, Autosomal Dominant	13
1605	c	GLC104	Glaucoma 1, Open Angle, O	13
1606	c	LPR020	Leprosy 6	13
1607	c	KRT039	Keratoconus 2	13
1608	c	KRT054	Keratoconus 8	13
1609		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	13
1610	P	IDP065	Idiopathic Macular Telangiectasia Type 1	13
1611		CNG335	Congenital Ectropion Uveae	13
1612		ERL036	Early-Onset Posterior Subcapsular Cataract	12
1613	c	KRT040	Keratoconus 3	12
1614		ETH013	Euthyroid Graves Orbitopathy	12
1615	c	SPS040	Spastic Paraplegia 5b	12
1616	c	ACT030	Acute Dacryoadenitis	12
1617		SVR082	Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	12
1618	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	12
1619		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	12
1620	c	SPS230	Spastic Paraplegia Type 49	12
1621	c	GLC103	Glaucoma 1, Open Angle, K	12
1622		PRD026	Pre-Descemet Corneal Dystrophy	12
1623		HST002	Histoplasmosis Retinitis	12
1624		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	12
1625		ISL131	Isolated Foveal Hypoplasia	12
1626		PRP103	Peripapillary Staphyloma	12
1627		BRD008	Borderline Glaucoma	12
1628	c	HYP832	Hypotrichosis 14	12
1629		CRN002	Corneal Argyrosis	12
1630	c	ACQ002	Acquired Night Blindness	12
1631		THY013	Thyrotoxic Exophthalmos	12
1632		ISL128	Isolated Microspherophakia	12
1633		NDL008	Nodular Episcleritis	12
1634		APP006	Apperceptive Agnosia	11
1635	P	ACT070	Acute Inflammation of Lacrimal Passage	11
1636		CNG400	Congenital Hereditary Endothelial Dystrophy Type I	11
1637	c	GLC076	Glaucoma 1, Open Angle, H	11
1638	c	SPS165	Spastic Paraplegia 47	11
1639	P	ACT026	Acute Canaliculitis	11
1640		INT026	Intermittent Proptosis	11
1641	c	HLL012	Hallermann-Streiff-Like Syndrome	11
1642		PSD006	Pseudopterygium	11
1643	c	NNP008	Nanophthalmos 3	11
1644		INT176	Intraocular Medulloepithelioma	11
1645		CNG357	Congenital Symblepharon	11
1646	P	GLC102	Glaucoma 1, Open Angle, J	11
1647		MCH001	Mechanical Ectropion	11
1648		PRG116	Progressive Supranuclear Palsy-Corticobasal Syndrome	11
1649		HMN007	Hemangioma of Orbit	11
1650	c	CHR035	Chronic Dacryoadenitis	10
1651		SNS024	Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	10
1652		TRN010	Transient Retinal Arterial Occlusion	10
1653		OPH003	Ophthalmia Nodosa	10
1654	c	SPR048	Supranuclear Palsy, Progressive, 3	10
1655		TRR003	Terrien Marginal Degeneration	10
1656	c	SPS214	Spastic Ataxia 4	10
1657	c	SPS171	Spastic Ataxia 5	10
1658		CNT011	Contact Blepharoconjunctivitis	10
1659	c	GLL046	Galloway-Mowat Syndrome 7	10
1660		ACT168	Acute Annular Outer Retinopathy	10
1661		HYP062	Hypopyon Ulcer	10
1662	c	GLL047	Galloway-Mowat Syndrome 8	10
1663	c	GLL045	Galloway-Mowat Syndrome 6	10
1664		PRT027	Partial Arterial Retinal Occlusion	10
1665		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
1666		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
1667		ERY041	Erythrocyte Galactose Epimerase Deficiency	9
1668	c	CNG433	Congenital Cornea Plana	9
1669	c	SPS162	Spastic Ataxia 1	9
1670	c	SPS163	Spastic Ataxia 3	9
1671		STP001	Staphyloma Posticum	9
1672		EQT001	Equatorial Staphyloma	9
1673		INF115	Infectious Epithelial Keratitis	9
1674	c	CHR061	Chronic Canaliculitis	9
1675	c	TYS006	Tay-Sachs Disease, B Variant, Adult Form	9
1676	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	9
1677	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	9
1678		ULC003	Ulcerative Blepharitis	9
1679	c	NYS019	Nystagmus, Congenital, Autosomal Recessive	9
1680	c	GLC080	Glaucoma 1, Open Angle, N	9
1681		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
1682		GNC009	Gonococcal Seminal Vesiculitis	9
1683	c	LTN017	Late-Infantile/juvenile Krabbe Disease	9
1684	c	ADL071	Adult Krabbe Disease	9
1685		ORB005	Orbital Periostitis	9
1686		CCT004	Cicatricial Lagophthalmos	9
1687		MRG002	Marginal Corneal Ulcer	9
1688	c	CNT026	Central Corneal Ulcer	9
1689	c	ERL039	Early-Onset Anterior Polar Cataract	9
1690	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	9
1691		DST090	Distal Trisomy 2p	9
1692	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	9
1693		3Q2004	3q26 Microduplication Syndrome	9
1694	c	FBL003	Fbln5-Related Cutis Laxa	8
1695		MNM005	Minimal Pigment Oculocutaneous Albinism Type 1	8
1696	c	SPS170	Spastic Ataxia 2	8
1697		CMP057	Complete Cryptophthalmia	8
1698		INV017	Inverse Marcus-Gunn Phenomenon	8
1699	c	SDR001	Siderosis of Eye	8
1700		STR016	Steroid-Induced Glaucoma - Borderline	8
1701	c	IDP048	Idiopathic Posterior Uveitis	8
1702	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	8
1703		IDP047	Idiopathic Panuveitis	8
1704		MRN008	Marin-Amat Syndrome	8
1705		INT008	Intermittent Squint	8
1706	c	ALP056	Alpha-Mannosidosis, Adult Form	8
1707		NDL004	Nodular Degeneration of Cornea	8
1708		BLL005	Bullous Retinoschisis	8
1709	c	ALP055	Alpha-Mannosidosis, Infantile Form	8
1710	P	TTL001	Total Internal Ophthalmoplegia	8
1711		BRW005	Brawny Scleritis	8
1712		TTN002	Tetanic Cataract	8
1713		ABN004	Abnormal Pupillary Function	8
1714		PLZ007	Pelizaeus-Merzbacher Disease, Classic Form	8
1715		PRG115	Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome	8
1716		TRN011	Transient Refractive Change	8
1717		PHK009	Phakomatosis Cesiomarmorata	8
1718		OKH001	Okihiro Syndrome Due to a Point Mutation	8
1719		MLT117	Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	8
1720	c	SPS229	Spastic Ataxia 8	8
1721	c	SPS172	Spastic Ataxia 7	8
1722	c	GLC032	Glaucoma, Hereditary	8
1723		LNS002	Lens-Induced Iridocyclitis	8
1724	c	CNG348	Congenital Sialidosis Type 2	7
1725	P	RBN007	Rubinstein Taybi Like Syndrome	7
1726		CNJ011	Conjunctival Deposit	7
1727	c	GLL043	Galloway-Mowat Syndrome 2	7
1728	c	IDP066	Idiopathic Macular Telangiectasia Type 3	7
1729		FND005	Fundus Pulverulentus	7
1730		TRS020	Tarsal Kink Syndrome	7
1731		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	7
1732		PRG117	Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome	7
1733	c	INF151	Infectious Panuveitis	7
1734		LXT001	Luxation of Globe	7
1735		ACQ003	Acquired Tear Duct Stenosis	7
1736	P	ANT012	Anterior Dislocation of Lens	7
1737		STB001	Stable Condition Keratoconus	7
1738	c	PST025	Posterior Dislocation of Lens	7
1739		CNJ008	Conjunctival Concretion	7
1740	c	PST012	Posterior Corneal Pigmentation	7
1741		ANG010	Angular Blepharoconjunctivitis	7
1742		IDP043	Idiopathic Uveal Effusion Syndrome	7
1743		PLZ008	Pelizaeus-Merzbacher Disease, Transitional Form	7
1744	P	SMN001	Seminal Vesicle Acute Gonorrhea	7
1745		SPS001	Spastic Ectropion	7
1746	c	SMN004	Seminal Vesicle Chronic Gonorrhea	7
1747		CRT003	Cortical Senile Cataract	7
1748		STN002	Stenosis of Lacrimal Punctum	7
1749		SQM003	Squamous Blepharitis	6
1750		PHL004	Phlegmonous Dacryocystitis	6
1751		SCL005	Scleroperikeratitis	6
1752	P	ANT008	Anterior Corneal Pigmentation	6
1753		HYP023	Hypersecretion Glaucoma	6
1754		RNG002	Ring Corneal Ulcer	6
1755		DBL001	Double Pterygium	6
1756		VTR004	Vitreous Abscess	6
1757		CNT008	Contact Lens Corneal Edema	6
1758		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
1759	c	CHR088	Chronic Inflammation of Lacrimal Passage	6
1760		MCH004	Mechanical Entropion	6
1761		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	6
1762	c	SCN004	Secondary Vitreoretinal Degeneration	6
1763		RTN189	Retinal Capillary Malformation	6
1764		DSS001	Disseminated Chorioretinitis	6
1765		PLZ009	Pelizaeus-Merzbacher Disease in Female Carriers	6
1766		ACT005	Acute Hydrops Keratoconus	6
1767		MNC005	Monocular Exotropia	6
1768	c	MCR283	Microcephaly and Chorioretinopathy 2	6
1769		STN003	Stenosis of Lacrimal Passage	6
1770	c	MCR282	Microcephaly and Chorioretinopathy 1	6
1771	c	MCR284	Microcephaly and Chorioretinopathy 3	6
1772		MYT001	Myotonic Cataract	5
1773		GNC007	Gonococcal Keratitis	5
1774		LCL001	Localized Anterior Staphyloma	5
1775		RSD001	Residual Stage Angle-Closure Glaucoma	5
1776		ABN003	Abnormal Threshold of Rods	5
1777		MCL004	Macular Keratitis	5
1778		EPS002	Episcleritis Periodica Fugax	5
1779	c	SCN003	Secondary Corneal Edema	5
1780		PRM009	Primary Eye Hypotony	5
1781		BWM001	Bowman's Membrane Folds or Rupture	5
1782		LCR003	Lacrimal Passage Granuloma	5
1783		RSD002	Residual Stage of Open Angle Glaucoma	5
1784		PRP014	Peripheral Degeneration of Cornea	5
1785		LTR005	Lateral Displacement of Eye	5
1786		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	5
1787	P	PRM007	Primary Lacrimal Atrophy	5
1788		DMR001	De Morsier's Syndrome Information	5
1789		CNT022	Central Gyrate Choroidal Dystrophy	5
1790		SPP006	Suppurative Uveitis	5
1791		TTL003	Total Circumpapillary Dystrophy of Choroid	5
1792		GRY003	Grayson-Wilbrandt Corneal Dystrophy	5
1793		PRG012	Progressive Peripheral Pterygium	5
1794		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	5
1795		PRP012	Peripheral Focal Chorioretinitis	5
1796		RTN009	Retinal Dystrophies Primarily Involving Bruch's Membrane	5
1797		ERL027	Early-Onset Non-Syndromic Cataract	5
1798		ERL042	Early-Onset Partial Cataract	5
1799		ISL065	Isolated Congenital Alacrima	5
1800		STN001	Stenosis of Lacrimal Sac	5
1801		ISL071	Isolated Congenital Ectropion	5
1802		PRT091	Partial Cryptophthalmia	5
1803	c	OCL037	Oculodentodigital Dysplasia Dominant	5
1804		EVR001	Eversion of Lacrimal Punctum	4
1805		MCH005	Mechanical Lagophthalmos	4
1806	c	EPP002	Epiphora Due to Excess Lacrimation	4
1807	c	GLC029	Glaucoma Type 1c	4
1808	c	GLC033	Glaucoma, Hereditary Adult Type 1a	4
1809		RNG001	Ring Staphyloma	4
1810		CNS003	Constant Exophthalmos	4
1811	c	GLC035	Glaucoma, Primary Infantile Type 3a	4
1812	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	4
1813		DFF008	Diffuse Secondary Choroid Atrophy	4
1814		SMP002	Simple Chronic Conjunctivitis	4
1815	c	ATS022	Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract	4
1816		GNC004	Gonococcal Iridocyclitis	4
1817	c	SCN002	Secondary Lacrimal Atrophy	4
1818	P	EPP001	Epiphora Due to Insufficient Drainage	4
1819		CNT006	Central Pterygium	4
1820		IDP050	Idiopathic Linear Interstitial Keratitis	4
1821		THY120	Thygeson Superficial Punctate Keratopathy	4
1822		GNC008	Gonococcal Endophthalmia	4
1823		PHL002	Philophthalmiasis	4
1824		DYS010	Dystrophies Primarily Involving the Retinal Pigment Epithelium	4
1825		PRS026	Parasitic Conjunctivitis	4
1826		FLT003	Flat Retinoschisis	4
1827		RSC002	Rosacea Conjunctivitis	4
1828		PHT005	Phthisical Cornea	4
1829		BLN007	Blind Hypertensive Eye	4
1830		PRT016	Partial Circumpapillary Choroid Dystrophy	4
1831		SNL006	Senile Atrophy of Choroid	4
1832		RSD003	Residual Stage Corticosteroid-Induced Glaucoma	4
1833	c	FML317	Familial Monosomy 7 Syndrome	4
1834		ANG008	Angioid Streaks of Choroid	4
1835		ISL127	Isolated Blepharochalasis	4
1836		INT284	Intellectual Disability-Cataracts-Kyphosis Syndrome	4
1837		ATS361	Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome	4
1838		ISL126	Isolated Iridoschisis	4
1839		RTN007	Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses	4
1840		ISL130	Isolated Congenital Entropion	4
1841		ANT015	Anatomical Narrow Angle Borderline Glaucoma	4
1842		ISL132	Isolated Megalopapilla	4
1843	c	FRG004	Fragile X Syndrome Type 1	4
1844	c	FRG005	Fragile X Syndrome Type 2	4
1845	c	FRG006	Fragile X Syndrome Type 3	4
1846	P	CHR168	Chorioretinopathy Dominant Form Microcephaly	3
1847	c	MCR059	Microcephaly with Chorioretinopathy, Autosomal Dominant Form	3
1848	c	MCR048	Microcephaly Chorioretinopathy Recessive Form	3
1849		PRN060	Paraneoplastic Uveitis	3
1850	P	LGB001	Leg Absence Deformity Cataract	3
1851		PPL048	Papillorenal Syndrome	50
1852	P	LBR001	Leber Congenital Amaurosis	64
1853	c	MCL042	Macular Degeneration, Age-Related, 1	84
1854		OPT008	Optic Nerve Neoplasm	37
1855	c	CNR004	Cone-Rod Dystrophy 2	63
1856	P	USH001	Usher Syndrome	59
1857		BLC001	Blue Cone Monochromacy	45
1858		KRN002	Kearns-Sayre Syndrome	63
1859		RTN015	Retinal Cancer	52
1860	c	HRD094	Hereditary Motor and Sensory Neuropathy, Type Iic	41
1861	P	NRP059	Neuropathy, Hereditary Motor and Sensory, Type Via	31
1862	c	HRD138	Hereditary Motor and Sensory Neuropathy V	31
1863	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
1864		OCL031	Oculo-Cerebral Dysplasia	13
1865		BRK005	Berk-Tabatznik Syndrome	9
1866	c	GDP003	Gdap1-Related Hereditary Motor and Sensory Neuropathy	6
1867		CHR081	Choroideremia	55
1868		ECZ002	Eczema Herpeticum	49
1869		CLB010	Coloboma of Macula	55
1870		BRD025	Birdshot Chorioretinopathy	49
1871	c	WRB002	Warburg Micro Syndrome 1	43
1872		DYN002	Doyne Honeycomb Retinal Dystrophy	39
1873		OPT007	Optic Nerve Glioma	45
1874		CRT082	Cortical Dysplasia, Complex, with Other Brain Malformations 8	23
1875		MCR013	Microphthalmia	61
1876	c	ALB021	Albinism, Oculocutaneous, Type Ii	53
1877		PPL021	Papilledema	49
1878		SRS007	Sorsby Fundus Dystrophy	48
1879		BLP046	Blepharophimosis, Ptosis, and Epicanthus Inversus	46
1880	c	USH038	Usher Syndrome, Type Iiia	43
1881		CRN106	Corneal Dystrophy, Gelatinous Drop-Like	38
1882		RTN011	Retina Lymphoma	27
1883		ACT201	Acute Posterior Multifocal Placoid Pigment Epitheliopathy	24
1884	c	OPT025	Optic Atrophy 6	22
1885		RTN123	Retinochoroidal Coloboma	20
1886		MLN018	Moloney Syndrome	18
1887		OCL009	Ocular Cancer	61
1888	c	ALB009	Albinism, Oculocutaneous, Type Ia	54
1889		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	49
1890	c	ALB010	Albinism, Oculocutaneous, Type Ib	45
1891	P	PNT019	Pontocerebellar Hypoplasia	43
1892	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	43
1893	c	PNT036	Pontocerebellar Hypoplasia, Type 6	42
1894		KLV001	Kluver-Bucy Syndrome	41
1895	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	40
1896	c	ACH020	Achromatopsia 2	40
1897	c	PNT010	Pontocerebellar Hypoplasia Type 1	39
1898	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	38
1899	c	MCL060	Macular Dystrophy, Vitelliform, 3	38
1900		VTR010	Vitreoretinochoroidopathy	36
1901	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	34
1902	c	PNT043	Pontocerebellar Hypoplasia, Type 4	32
1903	c	PNT037	Pontocerebellar Hypoplasia, Type 3	32
1904	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	32
1905	c	PNT032	Pontocerebellar Hypoplasia, Type 9	30
1906	c	PNT033	Pontocerebellar Hypoplasia, Type 10	30
1907	c	PNT046	Pontocerebellar Hypoplasia, Type 5	28
1908	c	RTN035	Retinal Cone Dystrophy 3b	28
1909	c	RTN036	Retinal Cone Dystrophy 4	28
1910		MNT006	Manitoba Oculotrichoanal Syndrome	27
1911	c	PNT039	Pontocerebellar Hypoplasia, Type 7	26
1912		XLN012	X-Linked Congenital Stationary Night Blindness	26
1913	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	25
1914	c	PNT050	Pontocerebellar Hypoplasia, Type 11	25
1915	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	25
1916	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	25
1917	c	RTN032	Retinal Cone Dystrophy 1	24
1918	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	21
1919		ULR001	Ulerythema Ophryogenesis	16
1920	c	PNT052	Pontocerebellar Hypoplasia, Type 12	14
1921	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	10
1922	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	8
1923	P	STR022	Stargardt Disease	58
1924		KNS001	Kniest Dysplasia	53
1925	P	KRT007	Keratoconus	50
1926		MCL075	Macular Dystrophy, Corneal	49
1927		OCL011	Ocular Motility Disease	46
1928		3MC003	3mc Syndrome	43
1929		CRN237	Corneal Dystrophy, Avellino Type	37
1930		MCL069	Macular Dystrophy, Retinal, 1, North Carolina Type	36
1931	P	CNR031	Cone-Rod Dystrophy, X-Linked, 1	32
1932		SPN348	Spondylometaphyseal Dysplasia, Axial	31
1933	c	CNR039	Cone-Rod Dystrophy, X-Linked, 2	30
1934	c	CNR038	Cone-Rod Dystrophy, X-Linked, 3	29
1935		WGN003	Wagner Syndrome	27
1936		IRD003	Iridocorneal Endothelial Syndrome	27
1937	c	NRP043	Neuropathy, Hereditary Motor and Sensory, Type Vib	25
1938		OCL016	Ocular Albinism, X-Linked	24
1939		ENC047	Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum	24
1940		WBB001	Webb-Dattani Syndrome	22
1941		ATX047	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation	15
1942		ANP019	Anophthalmos with Limb Anomalies	14
1943		LPS006	Lopes Gorlin Syndrome	6
1944	c	MCL062	Mucolipidosis Ii Alpha/beta	65
1945	P	FCS002	Fucosidosis	60
1946	P	INT030	Intracranial Aneurysm	60
1947	c	MCL013	Mucolipidosis Iv	59
1948	c	MCL046	Mucolipidosis Iii Alpha/beta	56
1949		RRR001	Rere-Related Disorders	55
1950		CTS003	Coats Disease	54
1951		RTN020	Retinal Vascular Disease	54
1952		INT303	Intracranial Hypertension, Idiopathic	53
1953		FDB001	Foodborne Botulism	53
1954	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	49
1955		FCH001	Fuchs' Endothelial Dystrophy	49
1956		PRS012	Pars Planitis	49
1957	P	MCL001	Mucolipidosis	46
1958	P	KLF001	Kleefstra Syndrome	46
1959		LGN005	Ligneous Conjunctivitis	44
1960