Eye Diseases Category (2445 diseases)

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

#	Family	MCID	Name	MIFTS
1		GYR004	Gyrate Atrophy of Choroid and Retina	50
2	c	OPT053	Optic Atrophy 1	52
3		LBR002	Leber Hereditary Optic Neuropathy	57
4	c	OPT068	Optic Atrophy 3, Autosomal Dominant	32
5	P	NRM001	Neuromyelitis Optica	65
6	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	59
7	c	3MT015	3-Methylglutaconic Aciduria, Type I	44
8	c	3MT014	3-Methylglutaconic Aciduria, Type V	41
9	P	3MT007	3-Methylglutaconic Aciduria	37
10	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	36
11	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	27
12	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	18
13		LBR031	Leber Optic Atrophy and Dystonia	43
14		OPT066	Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy	28
15		NNR004	Nonarteritic Anterior Ischemic Optic Neuropathy	58
16	c	ATS069	Autosomal Dominant Optic Atrophy Plus Syndrome	25
17		CLB003	Coloboma of Optic Nerve	41
18		OPT006	Optic Nerve Disease	57
19		CLR033	Color Vision Deficiency	40
20		SPT006	Septooptic Dysplasia	52
21		SPT019	Septo-Optic Dysplasia Spectrum	28
22		OLV004	Oliver-Mcfarlane Syndrome	32
23	c	FVL008	Foveal Hypoplasia 2	23
24	P	FVL006	Foveal Hypoplasia 1	23
25		CRB058	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss	21
26	P	OPT070	Optic Nerve Hypoplasia, Bilateral	43
27	c	OPT023	Optic Atrophy 2	22
28	c	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	44
29	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	38
30	P	XLN110	X-Linked Charcot-Marie-Tooth Disease	36
31	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	35
32	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	27
33	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	24
34		OPT001	Optic Disk Drusen	31
35	P	WLF004	Wolfram Syndrome	61
36	c	MCR124	Microphthalmia, Isolated 1	36
37	c	WLF009	Wolfram Syndrome 2	34
38	P	MCR122	Microphthalmia, Isolated 5	31
39	c	MCR211	Microphthalmia, Isolated 6	31
40	c	MCR137	Microphthalmia, Isolated 2	22
41	c	MCR109	Microphthalmia, Isolated 4	21
42	c	MCR219	Microphthalmia, Isolated 8	21
43	c	MCR114	Microphthalmia, Isolated 3	21
44	c	MCR108	Microphthalmia, Isolated 7	17
45		EYL005	Eyelid Disease	40
46		OPT074	Optic Atrophy 7 with or Without Auditory Neuropathy	20
47		LBR030	Leber Optic Atrophy	40
48		SCH038	Schopf-Schulz-Passarge Syndrome	30
49		BHR001	Behr Syndrome	36
50		SPS061	Spastic Paraplegia, Optic Atrophy, and Neuropathy	34
51		TRC055	Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina	15
52		EYL001	Eyelid Neoplasm	31
53	P	BLP003	Blepharospasm	46
54	P	CLB034	Coloboma, Ocular, Autosomal Dominant	45
55	c	BLP048	Blepharospasm, Benign Essential	36
56		GPS001	Gapo Syndrome	36
57	P	PHS005	Peho Syndrome	35
58		SHR058	Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly	28
59	c	CLB022	Coloboma, Ocular, Autosomal Recessive	21
60		OPT071	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive	16
61	P	AGN002	Agnosia	61
62		OPT009	Optic Neuritis	53
63		BSC005	Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	33
64		CRB159	Cerebral Visual Impairment	29
65		ICH066	Ichthyosis--Cheek--Eyebrow Syndrome	17
66	c	FRM002	Form Agnosia	14
67	c	WLF013	Wolfram Syndrome 1	51
68	c	NRM008	Neuromyelitis Optica Spectrum Disorder	30
69		OPT005	Optic Nerve Astrocytoma	10
70		RTN017	Retinal Detachment	58
71		TRT020	Tritanopia	44
72		CHS002	Chiasmal Syndrome	35
73	c	OPT064	Optic Atrophy 11	24
74		CRB165	Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation	22
75		OPT058	Optic Disc Anomalies with Retinal and/or Macular Dystrophy	18
76		FLC002	Fleck Retina, Familial Benign	17
77		ADT008	Auditory Neuropathy and Optic Atrophy	17
78	P	RTN016	Retinal Degeneration	54
79	P	CLR019	Color Blindness	48
80		ISC002	Ischemic Optic Neuropathy	47
81		VSL003	Visual Agnosia	40
82	c	LTN004	Late-Onset Retinal Degeneration	40
83		VSL002	Visual Epilepsy	30
84		CRB189	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss	27
85		CHL024	Childhood Optic Nerve Glioma	18
86		OPT062	Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures	17
87		VSL004	Visual Cortex Disease	17
88	c	OPT024	Optic Atrophy 5	17
89		EYB005	Eyebrows, Duplication of, with Stretchable Skin and Syndactyly	16
90		VSL012	Visual Snow Syndrome	12
91		HYP742	Hyperpigmentation of Eyelids	11
92		SHR049	Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome	8
93		VNS001	Venous Tributary Occlusion of Retina	6
94		CHL023	Childhood Optic Tract Astrocytoma	6
95		SCT002	Scotoma	41
96		TRC077	Trichomegaly	39
97		OPT002	Optic Nerve Sheath Meningioma	31
98	P	HRD022	Hordeolum	29
99		OPT010	Optic Papillitis	29
100		OPT032	Optic Pathway Glioma	29
101	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	26
102		CVT001	Cavitary Optic Disc Anomalies	25
103	c	OPT060	Optic Atrophy 8	21
104		SPL058	Splenomegaly, Cytopenia, and Vision Loss	17
105	c	INT047	Internal Hordeolum	14
106		CHR675	Chronic Relapsing Inflammatory Optic Neuropathy	12
107		BNC002	Binocular Vision Disease	12
108		RTN018	Retinal Disease	56
109		FST001	Foster-Kennedy Syndrome	23
110		DYS187	Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities	22
111		CMB069	Combined Hamartoma of the Retina and Retinal Pigment Epithelium	21
112		VSL005	Visual Pathway Disease	20
113	c	OPT065	Optic Atrophy 9	20
114		BLN017	Balint Syndrome	16
115	c	ACQ001	Acquired Color Blindness	14
116		SHR097	Short Tarsus with Absence of Lower Eyelashes	14
117		FLC004	Fleck Retina of Kandori	12
118		CNG395	Congenital Retinal Arteriovenous Communication	12
119	c	OPT059	Optic Atrophy 4	12
120		ATS326	Autosomal Recessive Isolated Optic Atrophy	11
121		GLC005	Glaucomatous Atrophy of Optic Disc	10
122		MLG010	Malignant Eyelid Melanoma	9
123		ATM073	Autoimmune-Related Retinopathy and Optic Neuropathy	8
124		ALL005	Allergic Contact Dermatitis of Eyelid	8
125		NNN006	Noninfectious Dermatoses of Eyelid	7
126		ANT020	Anterior Optic Tract Meningioma	7
127		PRS018	Parasitic Eyelid Infestation	7
128		CRT010	Crater-Like Holes of Optic Disc	6
129		INF155	Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	6
130		BLT005	Bilateral Meningioma of Optic Nerve	6
131		CLB012	Coloboma of Optic Papilla	3
132		GRW009	Growth Retardation Alopecia Pseudoanodontia Optic	2
133	P	ENC018	Encephalopathy	62
134		PSD008	Pseudopapilledema	37
135		3MC001	3mc Syndrome 2	30
136	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	27
137		CMB047	Combined Oxidative Phosphorylation Deficiency 18	20
138	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	20
139		HRL006	Harel-Yoon Syndrome	20
140		ENC048	Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy	19
141	P	MYP006	Myopia	56
142	P	PTS002	Ptosis	53
143		ECT005	Ectropion	46
144	c	CNG513	Congenital Ptosis	35
145	c	PHL010	Peho-Like Syndrome	23
146	c	MYP127	Myopia 2, Autosomal Dominant	20
147	c	MYP018	Myopia 6	20
148	c	PTS010	Ptosis, Hereditary Congenital 2	20
149	c	MYP140	Myopia 17, Autosomal Dominant	19
150	c	MYP074	Myopia 23, Autosomal Recessive	18
151	c	MYP138	Myopia 3, Autosomal Dominant	17
152	c	MYP070	Myopia 21, Autosomal Dominant	17
153	c	MYP141	Myopia 5, Autosomal Dominant	17
154	c	MYP146	Myopia 15, Autosomal Dominant	17
155	c	MYP075	Myopia 22, Autosomal Dominant	17
156	c	MYP133	Myopia 18, Autosomal Recessive	16
157	c	MYP090	Myopia 24, Autosomal Dominant	16
158		GRP007	Grouped Pigmentation of the Retina	15
159	c	MYP147	Myopia 19, Autosomal Dominant	15
160	c	PTS018	Ptosis, Hereditary Congenital 1	15
161		JVN026	Jeavons Syndrome	15
162	c	MYP040	Myopia 7	15
163	c	MYP041	Myopia 8	15
164	c	MYP048	Myopia 9	15
165	c	MYP044	Myopia 10	15
166	c	MYP117	Myopia 25, Autosomal Dominant	15
167	c	MYP143	Myopia 11, Autosomal Dominant	14
168	c	MYP144	Myopia 12, Autosomal Dominant	14
169	c	MYP145	Myopia 16, Autosomal Dominant	14
170	c	MYP069	Myopia 14	13
171	c	MYP084	Myopia 20, Autosomal Dominant	12
172	c	FRS014	Fraser Syndrome 1	51
173		KHN001	Kuhnt-Junius Degeneration	40
174		PRR004	Preretinal Fibrosis	35
175		DST033	Distichiasis	35
176		SPN033	Spontaneous Ocular Nystagmus	33
177		DGN003	Degeneration of Macula and Posterior Pole	32
178		ART110	Arteritic Anterior Ischemic Optic Neuropathy	31
179		PRP026	Peripheral Retinal Degeneration	29
180		TXC008	Toxic Optic Neuropathy	24
181		ISL119	Isolated Optic Neuritis	24
182	P	PRM016	Primary Optic Atrophy	23
183	P	TXC009	Toxic Maculopathy	19
184		CLB018	Coloboma of Eyelid	19
185	c	FRS015	Fraser Syndrome 3	17
186		APR010	Apraxia of Eyelid Opening	17
187		OPT076	Optic Perineuritis	16
188	c	FRS016	Fraser Syndrome 2	15
189		WLF014	Wolfram Syndrome, Mitochondrial Form	15
190		VSP001	Vasoproliferative Tumor of the Retina	14
191		MTP036	Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy	14
192		NTR002	Nutritional Optic Neuropathy	14
193		PSD005	Pseudoretinitis Pigmentosa	13
194	P	FRS017	Fraser-Like Syndrome	13
195		MNT316	Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature	13
196		BLS004	Blessig's Cysts	11
197		CHL133	Cholestasis with Gallstone, Ataxia, and Visual Disturbance	11
198		SPT020	Spatial Visualization, Aptitude for	11
199		TNT001	Tented Eyebrows	11
200		NRP050	Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance	10
201		PRT024	Partial Optic Atrophy	10
202		OPT072	Opticocochleodentate Degeneration	10
203		SPS217	Spastic Paraplegia, Optic Atrophy, and Dementia	10
204		OPT029	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant	10
205		RTN005	Retinal Lattice Degeneration	10
206		VSL001	Visual Verbal Agnosia	9
207		FRD011	Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness	9
208		OPT067	Optic Atrophy with Demyelinating Disease of Cns	9
209		HLR003	Hole Retinal Cyst	9
210		OPT069	Optic Atrophy with Negative Electroretinograms	9
211		MYL068	Myelinated Optic Nerve Fibers	9
212		OPT073	Optic Atrophy--Spastic Paraplegia Syndrome	9
213		LTT009	Lattice Degeneration of Retina Leading to Retinal Detachment	8
214		CBB001	Cobblestone Retinal Degeneration	8
215		HYP046	Hypopigmentation of Eyelid	7
216		CYS012	Cystoid Macular Retinal Degeneration	7
217		SNL002	Senile Reticular Retinal Degeneration	7
218		TRS032	Tristichiasis	7
219		XLN221	X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome	7
220		CNG355	Congenital Eyelid Retraction	6
221		HYP044	Hypotrichosis of Eyelid	6
222		EYL004	Eyelid Degenerative Disease	6
223		ECZ001	Eczematous Dermatitis of Eyelid	6
224		HYP045	Hypertrichosis of Eyelid	6
225		XRD002	Xeroderma of Eyelid	6
226		CLB023	Coloboma of Inferior Eyelid	6
227		EYB006	Eyebrow, Whorl in	6
228		PRP004	Peripheral Scars of Retina	6
229	c	TXC018	Toxic Maculopathy Due to Antimalarial Drugs	6
230		DSC002	Discoid Lupus Erythematosus of Eyelid	5
231		ATS077	Autosomal Dominant Optic Atrophy and Peripheral Neuropathy	5
232		CLB024	Coloboma of Superior Eyelid	5
233		SPS224	Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal	4
234		ECC013	Eccrine Syringofibroadenomatosis with Eyelid Abnormalities	3
235		VSL006	Visual Pathway and Hypothalamic Glioma, Childhood	2
236	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	67
237	c	HRD010	Hereditary Spastic Paraplegia	67
238	P	CNJ013	Conjunctivitis	63
239	P	CTS001	Cutis Laxa	62
240		VTR013	Vitreoretinopathy, Neovascular Inflammatory	61
241	P	UVT001	Uveitis	60
242	P	CTR002	Cataract	60
243	P	OCL002	Oculocutaneous Albinism	58
244	c	GLC092	Glaucoma, Primary Open Angle	57
245	P	ACH003	Achromatopsia	56
246		STR020	Strabismus	56
247		KRT006	Keratoconjunctivitis	55
248		EXF001	Exfoliation Syndrome	55
249	P	CNG010	Congenital Stationary Night Blindness	55
250	c	INT064	Intermediate Uveitis	55
251	P	INF016	Infantile Epileptic Encephalopathy	54
252		RTN209	Retinoschisis 1, X-Linked, Juvenile	53
253		FND001	Fundus Albipunctatus	53
254		OCL006	Ocular Hypertension	53
255	c	NGH026	Night Blindness, Congenital Stationary, Type 1a	52
256	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	52
257	c	INV001	Invasive Aspergillosis	52
258	P	PNV001	Panuveitis	52
259		DRY001	Dry Eye Syndrome	51
260		EXP004	Exophthalmos	51
261	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	51
262		MCL006	Macular Retinal Edema	51
263		CRN027	Corneal Neovascularization	51
264	P	NGH001	Night Blindness	51
265	P	OPN001	Open-Angle Glaucoma	51
266		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	51
267	P	END047	Endophthalmitis	50
268		STR072	Stromal Keratitis	50
269		RTN023	Retinitis	50
270	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	50
271	c	ANT034	Anterior Uveitis	50
272	c	RTN162	Retinitis Pigmentosa 2	50
273		RTN003	Retinal Ischemia	50
274	c	LBR014	Leber Congenital Amaurosis 4	49
275	c	PST005	Posterior Uveitis	49
276		AST006	Astigmatism	49
277		FND002	Fundus Dystrophy	49
278	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	48
279	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	48
280		CNJ012	Conjunctival Disease	48
281		DBT006	Diabetic Macular Edema	48
282		NVS001	Neovascular Glaucoma	48
283	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	47
284		AMB002	Amblyopia	47
285	P	SDR002	Siderosis	47
286	c	MYS051	Myasthenic Syndrome, Congenital, 5	47
287	P	CRN028	Corneal Ulcer	47
288		CRN024	Corneal Disease	47
289	c	OPT051	Opitz Gbbb Syndrome, Type I	47
290	P	OCL001	Ocular Albinism	46
291	c	LBR012	Leber Congenital Amaurosis 2	46
292	c	MCR256	Microphthalmia, Syndromic 9	46
293		ENH001	Enhanced S-Cone Syndrome	46
294	P	RTN014	Retinal Artery Occlusion	46
295	P	HRN001	Horner's Syndrome	46
296	P	GLL032	Galloway-Mowat Syndrome	46
297	c	USH021	Usher Syndrome, Type Iid	46
298	c	USH035	Usher Syndrome Type 2	45
299	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	45
300		BLL004	Bullous Keratopathy	45
301	c	LKD010	Leukodystrophy, Hypomyelinating, 2	45
302		END072	Endotheliitis	45
303		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	45
304		MCL003	Macular Holes	44
305		RFR003	Refractive Error	44
306		LCR008	Lacrimal Apparatus Disease	44
307	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	44
308		ATP013	Atopic Keratoconjunctivitis	44
309	c	USH037	Usher Syndrome, Type Iia	44
310	c	MCP047	Mucopolysaccharidosis, Type Iva	44
311	c	LKD015	Leukodystrophy, Hypomyelinating, 3	44
312		IRD001	Iridocyclitis	43
313	P	CRN026	Corneal Edema	43
314		KRT008	Keratopathy	43
315	c	CHR095	Chronic Progressive External Ophthalmoplegia	43
316	P	DNR001	Duane Retraction Syndrome	43
317		BLP005	Blepharitis	43
318	P	VTL001	Vitelliform Macular Dystrophy	42
319		SYM002	Sympathetic Ophthalmia	42
320	c	ANT077	Anterior Segment Dysgenesis 1	42
321		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	42
322		PRM024	Primary Angle-Closure Glaucoma	42
323		EXT022	Exotropia	42
324	c	MCL066	Macular Dystrophy, Vitelliform, 2	42
325	c	ACH021	Achromatopsia 3	42
326	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	42
327	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	41
328	c	LKD019	Leukodystrophy, Hypomyelinating, 6	41
329		CRN241	Corneal Dystrophy, Congenital Stromal	41
330	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
331	c	OPT050	Opitz Gbbb Syndrome, Type Ii	41
332	P	JVN008	Juvenile Glaucoma	41
333	c	CTR130	Cataract 9, Multiple Types	41
334	c	USH040	Usher Syndrome, Type Id	41
335	c	USH039	Usher Syndrome, Type Ic	41
336		CHR386	Chromosome 6pter-P24 Deletion Syndrome	40
337		SNL007	Senile Cataract	40
338		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	40
339		CRN025	Corneal Dystrophy	40
340		ARC023	Arcus Corneae	40
341	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	40
342	c	RTN058	Retinitis Pigmentosa 3	40
343		VTR005	Vitreous Disease	40
344	c	RTN160	Retinitis Pigmentosa 60	40
345	c	MYS078	Myasthenic Syndrome, Congenital, 14	40
346		CRN285	Corneal Dystrophy, Fleck	40
347	P	CNG024	Congenital Nystagmus	40
348	c	ACH020	Achromatopsia 2	40
349	c	CNT028	Central Retinal Artery Occlusion	40
350	c	RTN143	Retinitis Pigmentosa 47	40
351	c	USH020	Usher Syndrome, Type Iic	40
352	c	MCR261	Microphthalmia, Syndromic 2	39
353	c	LBR019	Leber Congenital Amaurosis 9	39
354	c	RTN043	Retinitis Pigmentosa 13	39
355		INT042	Internuclear Ophthalmoplegia	39
356		LNS003	Lens Disease	39
357	c	RTN172	Retinitis Pigmentosa 1	39
358	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	39
359		OCL010	Ocular Hypotension	39
360		BLT001	Bilateral Retinoblastoma	39
361	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	39
362		ACT011	Acute Contagious Conjunctivitis	38
363		CNJ007	Conjunctivochalasis	38
364	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
365	c	LBR004	Leber Congenital Amaurosis 1	38
366	c	ANT023	Anterior Scleritis	38
367		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	38
368		MRN002	Mooren's Ulcer	38
369	c	RTN177	Retinitis Pigmentosa 73	38
370	c	ALB024	Albinism, Ocular, Type I	38
371	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	38
372		RBS002	Rubeosis Iridis	38
373		HYP084	Hypopyon	38
374		VRN001	Vernal Conjunctivitis	38
375	c	CHR086	Chronic Conjunctivitis	38
376	c	MCL060	Macular Dystrophy, Vitelliform, 3	38
377		RTN013	Retinal Hemangioblastoma	38
378	c	RTN142	Retinitis Pigmentosa 38	38
379	c	ATS393	Autosomal Recessive Cutis Laxa Type I	38
380		CHR079	Choroid Disease	38
381	P	ANT088	Anterior Segment Dysgenesis	38
382	c	CTR115	Cataract 16, Multiple Types	38
383		BLP006	Blepharoconjunctivitis	37
384	c	GLL038	Galloway-Mowat Syndrome 1	37
385	c	LKD008	Leukodystrophy, Hypomyelinating, 4	37
386	c	RTN069	Retinitis Pigmentosa 7	37
387		RCR001	Recurrent Corneal Erosion	37
388		ORB013	Orbital Disease	37
389	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	37
390	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	37
391	c	MYS052	Myasthenic Syndrome, Congenital, 10	37
392	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
393		MYP139	Myopathy, Proximal, and Ophthalmoplegia	37
394	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	37
395	c	MNS014	Monosomy 22	37
396		VTR003	Vitreous Detachment	37
397		PPL019	Papillary Conjunctivitis	37
398		HYP008	Hypertensive Retinopathy	37
399	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	37
400	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	37
401	c	ANT071	Anterior Segment Dysgenesis 4	37
402	c	CTR118	Cataract 14, Multiple Types	37
403	c	CTS045	Cutis Laxa, Autosomal Dominant 1	37
404	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	37
405	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	37
406	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	37
407	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	37
408	c	RTN048	Retinitis Pigmentosa 19	36
409		IRT001	Iritis	36
410	c	ACT037	Acute Dacryocystitis	36
411	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	36
412		CRT012	Cortical Blindness	36
413	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
414		EXC003	Excessive Tearing	36
415	c	PRM032	Primary Congenital Glaucoma	36
416	c	RTN050	Retinitis Pigmentosa 20	36
417	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	36
418		PRS025	Presbyopia	36
419	c	USH042	Usher Syndrome, Type Ig	36
420		BCK003	Background Diabetic Retinopathy	36
421	c	CTR129	Cataract 31, Multiple Types	36
422	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	36
423	c	CTR170	Cataract 30, Multiple Types	36
424		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	36
425	c	MCP051	Mucopolysaccharidosis, Type Ix	36
426	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	36
427	c	USH041	Usher Syndrome, Type if	36
428	c	BCT006	Bacterial Conjunctivitis	36
429		XRP001	Xerophthalmia	36
430	c	KNB006	Knobloch Syndrome 1	36
431	c	HRD015	Hereditary Night Blindness	35
432	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	35
433	c	GLC083	Glaucoma 3, Primary Infantile, B	35
434		BLP001	Blepharochalasis	35
435	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	35
436	c	ATS076	Autosomal Recessive Stickler Syndrome	35
437		LGH012	Leigh Syndrome with Leukodystrophy	35
438		RTN002	Retinal Perforation	35
439		HRP025	Herpes Simplex Virus Keratitis	35
440	c	PST008	Posterior Scleritis	35
441		CRN274	Corneal Dystrophy, Posterior Amorphous	35
442		PNG001	Pinguecula	35
443		ANG004	Angioid Streaks	35
444	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	35
445		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	35
446	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	35
447	c	CTR098	Cataract 1, Multiple Types	35
448	c	LBR007	Leber Congenital Amaurosis 12	35
449	c	RTN186	Retinitis Pigmentosa 75	35
450		EPT021	Epithelial Recurrent Erosion Dystrophy	35
451	P	VTR010	Vitreoretinochoroidopathy	34
452	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
453	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	34
454		ENT005	Entropion	34
455	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	34
456	c	RTN055	Retinitis Pigmentosa 26	34
457		LWT001	Low Tension Glaucoma	34
458		CLR133	Colorblindness, Partial, Protan Series	34
459	c	DNR003	Duane Retraction Syndrome 1	34
460	c	ANT086	Anterior Segment Dysgenesis 2	34
461	c	RTN165	Retinitis Pigmentosa 68	34
462		PTH003	Pathologic Nystagmus	34
463	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	34
464		INT082	Intraocular Retinoblastoma	34
465		EPT025	Epithelial Basement Membrane Dystrophy	34
466	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
467	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	34
468	c	RTN149	Retinitis Pigmentosa 42	34
469		CHR382	Chromosome 18q Deletion Syndrome	34
470		SVR002	Severe Nonproliferative Diabetic Retinopathy	34
471		OCL004	Ocular Hyperemia	34
472		PHT002	Photokeratitis	34
473	c	LBR011	Leber Congenital Amaurosis 16	34
474		SPN331	Spondyloocular Syndrome	33
475		LCR001	Lacrimal Duct Obstruction	33
476	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	33
477	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	33
478	c	RTN090	Retinitis Pigmentosa 55	33
479	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	33
480	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
481	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	33
482	c	PRP091	Porphyria Cutanea Tarda, Type I	33
483		AST003	Asthenopia	33
484	c	CTR141	Cataract 21, Multiple Types	33
485	c	RTN136	Retinitis Pigmentosa 44	33
486		UNL002	Unilateral Retinoblastoma	33
487	P	DCR003	Dacryoadenitis	33
488	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	33
489		FLM001	Filamentary Keratitis	33
490	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	33
491	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	33
492		END034	Endocrine Exophthalmos	33
493		IRS003	Iris Disease	33
494	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
495	c	RTN133	Retinitis Pigmentosa 43	33
496		OCC002	Occult Macular Dystrophy	33
497		CRN288	Corneal Dystrophy, Band-Shaped	33
498	P	BST001	Bestrophinopathy	33
499	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	32
500	c	RTN131	Retinitis Pigmentosa 27	32
501		CRN273	Corneal Dystrophy, Subepithelial Mucinous	32
502	c	ACH023	Achromatopsia 4	32
503	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
504	c	CTR122	Cataract 5, Multiple Types	32
505		SCL014	Scleral Staphyloma	32
506	P	KNB001	Knobloch Syndrome	32
507		HRD016	Hereditary Retinal Dystrophy	32
508	c	MYS075	Myasthenic Syndrome, Congenital, 13	32
509	c	RTN210	Retinitis Pigmentosa 50	32
510		ANS004	Anisometropia	32
511		DGN002	Degenerative Myopia	32
512		DBT007	Diabetic Cataract	32
513	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	32
514	c	RTN062	Retinitis Pigmentosa 33	32
515		ISL062	Isolated Plagiocephaly	32
516	c	RTN051	Retinitis Pigmentosa 22	31
517	c	CTR125	Cataract 7	31
518		GLC001	Glaucomatocyclitic Crisis	31
519	c	RTN134	Retinitis Pigmentosa 40	31
520		CHR077	Chorioretinal Scar	31
521	c	WLL036	Weill-Marchesani Syndrome 1	31
522	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	31
523		LKC002	Leukocoria	31
524		BYL001	Baylisascariasis	31
525	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	31
526	c	CTR145	Cataract 44	31
527	c	RTN041	Retinitis Pigmentosa 11	31
528		PRL014	Paralytic Squint	31
529	P	HYP700	Hypomyelinating Leukodystrophy	31
530		RDG001	Red-Green Color Blindness	31
531		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	31
532		PLM007	Pulmonary Aspergilloma	31
533	c	RTN116	Retinitis Pigmentosa 56	31
534	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	31
535	c	LBR005	Leber Congenital Amaurosis 10	31
536	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	31
537	c	CTR103	Cataract 4, Multiple Types	31
538	c	RTN044	Retinitis Pigmentosa 14	31
539	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
540	c	SPS031	Spastic Paraplegia 23	31
541	c	CTR158	Cataract 37	31
542	c	LBR013	Leber Congenital Amaurosis 3	31
543	c	RTN056	Retinitis Pigmentosa 28	31
544	c	ACT067	Acute Conjunctivitis	31
545	c	NNS043	Nonsyndromic Retinitis Pigmentosa	31
546		HYP048	Hypotropia	30
547	c	RTN171	Retinitis Pigmentosa 59	30
548	P	CRN249	Cornea Plana	30
549	c	RTN150	Retinitis Pigmentosa 10	30
550		SCL013	Scleral Disease	30
551		CNJ001	Conjugate Gaze Palsy	30
552	c	LBR018	Leber Congenital Amaurosis 8	30
553	P	SPS012	Spastic Paraplegia 3a	30
554	c	RTN047	Retinitis Pigmentosa 18	30
555	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	30
556	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	30
557	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	30
558	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	30
559		CNG005	Congenital Aphakia	30
560		EXP002	Exposure Keratitis	30
561		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	30
562	c	RTN068	Retinitis Pigmentosa 6	30
563		PNC012	Punctate Epithelial Keratoconjunctivitis	30
564		STR019	Steroid-Induced Glaucoma	30
565		ORB008	Orbital Plasma Cell Granuloma	30
566	c	RTN152	Retinitis Pigmentosa 66	29
567	c	RTN042	Retinitis Pigmentosa 12	29
568		DSS006	Disuse Amblyopia	29
569	c	ALB019	Albinism, Oculocutaneous, Type Iv	29
570		STR086	Stromal Dystrophy	29
571	c	CTR095	Cataract 8, Multiple Types	29
572		INT065	Interstitial Keratitis	29
573	P	DCR004	Dacryocystitis	29
574	c	WLL037	Weill-Marchesani Syndrome 2	29
575		BSL037	Basal Laminar Drusen	29
576		HYP047	Hypertropia	29
577		CYC001	Cycloplegia	29
578	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	29
579		HYD007	Hydrophthalmos	29
580	P	VTR008	Vitreoretinal Degeneration	29
581	c	BST008	Bestrophinopathy, Autosomal Recessive	29
582		ENP001	Enophthalmos	29
583	c	ACQ027	Acquired Cutis Laxa	29
584		LNS001	Lens Subluxation	29
585		IMM002	Immature Cataract	29
586	c	CTR096	Cataract 6, Multiple Types	29
587		RTN006	Retinal Drusen	29
588	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	29
589	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	29
590	c	RBN008	Rubinstein-Taybi Syndrome 2	29
591		ORB006	Orbital Cellulitis	29
592		SVN002	Sveinsson Chorioretinal Atrophy	29
593	c	CTR102	Cataract 2, Multiple Types	28
594		SHP001	Shipyard Eye	28
595		MGL003	Megalocornea	28
596	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	28
597		SPS002	Spastic Entropion	28
598		MKL001	Mikulicz Disease	28
599	c	MTC074	Metachromatic Leukodystrophy, Adult Form	28
600	c	USH031	Usher Syndrome, Type Ij	28
601	c	GLC041	Glaucoma 1, Open Angle, a	28
602	P	ACT028	Acute Closed-Angle Glaucoma	28
603	c	CTR175	Cataract 24	28
604		CRN022	Corneal Degeneration	28
605		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	28
606	c	RTN066	Retinitis Pigmentosa 4	28
607	c	NGH029	Night Blindness, Congenital Stationary, Type 1e	28
608	c	CTR132	Cataract 3, Multiple Types	28
609	c	ALB015	Albinism, Oculocutaneous, Type V	28
610		LRY022	Laryngoonychocutaneous Syndrome	28
611	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
612		LGP001	Lagophthalmos	28
613	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	28
614	c	RTN070	Retinitis Pigmentosa 9	28
615	c	CHR054	Chronic Closed-Angle Glaucoma	28
616	c	ACT047	Acute Endophthalmitis	28
617	c	RTN052	Retinitis Pigmentosa 23	28
618	c	LBR016	Leber Congenital Amaurosis 6	28
619	c	INF122	Infantile Krabbe Disease	28
620	c	CTR121	Cataract 25	28
621	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	28
622	c	RTN064	Retinitis Pigmentosa 35	28
623	c	MCL070	Macular Dystrophy, Patterned, 3	28
624	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	28
625	P	SPN202	Spinocerebellar Ataxia, X-Linked 1	28
626		IRR001	Irregular Astigmatism	28
627	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	28
628		CLS047	Classic Progressive Supranuclear Palsy Syndrome	28
629	c	CHR093	Chronic Orbital Inflammation	28
630	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	28
631		CNR014	Cone-Rod Dystrophy 16	28
632	c	USH030	Usher Syndrome, Type Ik	28
633		ORB007	Orbital Cyst	28
634		CHR053	Chronic Follicular Conjunctivitis	28
635	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	27
636	c	RTN046	Retinitis Pigmentosa 17	27
637	c	ERL012	Early-Onset Glaucoma	27
638	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
639	c	CTR174	Cataract 40	27
640		PRF002	Perforated Corneal Ulcer	27
641	c	RTN054	Retinitis Pigmentosa 25	27
642	c	RTN057	Retinitis Pigmentosa 29	27
643	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	27
644		VTR001	Vitreoretinal Dystrophy	27
645		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	27
646		VST003	Vestibular Nystagmus	27
647		ORB010	Orbital Granuloma	27
648	c	RTN129	Retinitis Pigmentosa 49	27
649	c	CTR124	Cataract 10, Multiple Types	27
650	c	RTN146	Retinitis Pigmentosa 62	27
651	c	RTN114	Retinitis Pigmentosa 58	27
652		CRN009	Corneal Ectasia	27
653	c	LBR009	Leber Congenital Amaurosis 14	27
654	c	RTN140	Retinitis Pigmentosa 67	27
655		OLG014	Oligocone Trichromacy	27
656		RTN019	Retinal Telangiectasia	27
657	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
658	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	27
659	c	ANT084	Anterior Segment Dysgenesis 3	27
660	c	HRD186	Hereditary Spastic Paraplegia 51	27
661		RGL001	Regular Astigmatism	27
662		ACT022	Acute Retinal Necrosis Syndrome	27
663	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	26
664	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	26
665		ACC003	Accommodative Esotropia	26
666	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	26
667	c	SPS021	Spastic Paraplegia 10	26
668	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	26
669	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	26
670	c	SPS092	Spastic Paraplegia 11	26
671	c	INF019	Infectious Anterior Uveitis	26
672		SNL004	Senile Ectropion	26
673		ISL011	Isolated Aniridia	26
674	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	26
675	c	USH044	Usher Syndrome, Type Iiib	26
676	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	26
677		ISL061	Isolated Brachycephaly	26
678	c	LBR015	Leber Congenital Amaurosis 5	26
679	P	SCL047	Sclerocornea	26
680		MTR001	Mature Cataract	26
681	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	26
682	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
683	c	LKD020	Leukodystrophy, Hypomyelinating, 10	26
684	c	RTN147	Retinitis Pigmentosa 48	26
685	c	MCL059	Macular Dystrophy, Patterned, 1	26
686	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
687	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	26
688	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	26
689		ISL089	Isolated Scaphocephaly	26
690		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	26
691		VTR002	Vitreous Syneresis	25
692	c	RTN053	Retinitis Pigmentosa 24	25
693	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
694	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	25
695	c	LKD022	Leukodystrophy, Hypomyelinating, 13	25
696		PST063	Postsynaptic Congenital Myasthenic Syndromes	25
697	c	RTN176	Retinitis Pigmentosa 71	25
698		PNP001	Panophthalmitis	25
699	c	ALB017	Albinism, Oculocutaneous, Type Vi	25
700		CCT001	Cicatricial Ectropion	25
701	P	RTN102	Retinitis Pigmentosa, Y-Linked	25
702	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	25
703		PGM007	Pigmented Paravenous Chorioretinal Atrophy	25
704	c	CHR060	Chronic Dacryocystitis	25
705	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	25
706		CRN128	Corneal Dystrophy, Endothelial, X-Linked	25
707	c	RTN059	Retinitis Pigmentosa 30	25
708	c	CTR113	Cataract 11, Multiple Types	25
709	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	25
710	c	MCL078	Macular Degeneration, Age-Related, 14	25
711	c	RTN060	Retinitis Pigmentosa 31	25
712	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	25
713	c	RTN169	Retinitis Pigmentosa 70	25
714		TTR027	Tetrasomy 15q26	25
715	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	25
716		BTT011	Butterfly-Shaped Pigment Dystrophy	25
717	c	MCR212	Microphthalmia, Syndromic 12	25
718	c	SPS039	Spastic Paraplegia 5a	25
719	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	25
720		BRN041	Bornholm Eye Disease	25
721		TRM002	Traumatic Glaucoma	25
722		HRD019	Hereditary Choroidal Atrophy	25
723	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	25
724		SVR058	Severe Early-Childhood-Onset Retinal Dystrophy	25
725		DYS096	Dyskeratosis, Hereditary Benign Intraepithelial	25
726	c	CTR169	Cataract 29	25
727		PHK008	Phakomatosis Cesioflammea	24
728	c	RTN159	Retinitis Pigmentosa 45	24
729	c	RTN178	Retinitis Pigmentosa 72	24
730		TTR019	Tetrasomy 5p	24
731	c	LKD016	Leukodystrophy, Hypomyelinating, 9	24
732	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	24
733		CRN004	Corneal Abscess	24
734	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	24
735	c	RTN106	Retinitis Pigmentosa 51	24
736		RTN174	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome	24
737	c	ANT085	Anterior Segment Dysgenesis 5	24
738		BSL045	Basel-Vanagaite-Smirin-Yosef Syndrome	24
739	c	MYS067	Myasthenic Syndrome, Congenital, 22	24
740		AMT001	Ametropic Amblyopia	24
741		PRT101	Poretti-Boltshauser Syndrome	24
742	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	24
743		CNJ010	Conjunctival Degeneration	24
744	c	LBR008	Leber Congenital Amaurosis 13	24
745		WGN007	Wagner Vitreoretinopathy	24
746		SPP007	Suppression Amblyopia	24
747	c	RTN190	Retinitis Pigmentosa 76	24
748		DCR002	Dacryocystocele	24
749	c	WLL038	Weill-Marchesani Syndrome 3	24
750		PSD004	Pseudomembranous Conjunctivitis	24
751	c	ANT083	Anterior Segment Dysgenesis 7	24
752		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	24
753	c	MCR228	Microphthalmia, Syndromic 13	23
754	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	23
755	c	RTN067	Retinitis Pigmentosa 41	23
756	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	23
757		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	23
758	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	23
759	c	MYS076	Myasthenic Syndrome, Congenital, 8	23
760	c	SPS036	Spastic Paraplegia 3	23
761	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	23
762	c	WLL040	Weill-Marchesani Syndrome 4	23
763	c	SPS025	Spastic Paraplegia 15	23
764		STC017	Stickler Syndrome, Type I, Nonsyndromic Ocular	23
765		PRT032	Partial Central Choroid Dystrophy	23
766	c	LKD023	Leukodystrophy, Hypomyelinating, 12	23
767	c	RTN141	Retinitis Pigmentosa 39	23
768	c	NGH027	Night Blindness, Congenital Stationary, Type 1c	23
769	c	MYS074	Myasthenic Syndrome, Congenital, 12	23
770	c	NGH010	Night Blindness, Congenital Stationary, Autosomal Dominant 2	23
771	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	23
772	c	LKD021	Leukodystrophy, Hypomyelinating, 11	23
773	c	EXD004	Exudative Vitreoretinopathy 4	23
774	c	ALB016	Albinism, Oculocutaneous, Type Vii	23
775	c	OGC001	Oguchi Disease 1	23
776	c	LBR010	Leber Congenital Amaurosis 15	23
777	c	RTN144	Retinitis Pigmentosa 61	23
778	c	SPN364	Spinocerebellar Ataxia, X-Linked 3	23
779	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	23
780	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	23
781	c	FML324	Familial Porphyria Cutanea Tarda	22
782	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	22
783	c	MCL030	Macular Degeneration, Age-Related, 10	22
784	c	MYS056	Myasthenic Syndrome, Congenital, 17	22
785	P	PST016	Posterior Polar Cataract	22
786	c	CTR166	Cataract 33, Multiple Types	22
787	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	22
788	c	CTR131	Cataract 17, Multiple Types	22
789	c	RTN166	Retinitis Pigmentosa 69	22
790		DRM043	Dermochondrocorneal Dystrophy	22
791	c	CTR181	Cataract 18	22
792	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	22
793	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	22
794	c	MYS064	Myasthenic Syndrome, Congenital, 16	22
795	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	22
796	c	MCL073	Macular Dystrophy, Vitelliform, 1	22
797	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	22
798		CMB018	Combined Oxidative Phosphorylation Deficiency 7	22
799	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	22
800	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	22
801	c	MCR217	Microphthalmia, Syndromic 11	22
802	c	RTN157	Retinitis Pigmentosa 37	22
803	c	CTR180	Cataract 22, Multiple Types	22
804	c	RTN117	Retinitis Pigmentosa 57	22
805	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	22
806	c	CTR184	Cataract 39, Multiple Types	22
807	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	22
808		PHC002	Phacogenic Glaucoma	22
809	c	MNS008	Monosomy 21	22
810		INT323	Intraocular Pressure Quantitative Trait Locus	22
811	c	CTR162	Cataract 47	21
812	c	NGH030	Night Blindness, Congenital Stationary, Type 1f	21
813	c	CTR119	Cataract 32, Multiple Types	21
814	c	RTN195	Retinitis Pigmentosa 79	21
815		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	21
816	c	ACH038	Achromatopsia 7	21
817	c	MCL043	Macular Degeneration, Age-Related, 2	21
818		SNL001	Senile Entropion	21
819	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	21
820		CRN010	Corneal Granular Dystrophy	21
821	c	NGH028	Night Blindness, Congenital Stationary, Type 1d	21
822		ANS002	Aniseikonia	21
823	c	MYS070	Myasthenic Syndrome, Congenital, 19	21
824		MSC089	Mosaic Monosomy X	21
825		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	21
826	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	21
827		ISL087	Isolated Oxycephaly	21
828	c	SPS091	Spastic Paraplegia 4	21
829	P	MNS011	Monosomy 9q22.3	21
830	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	21
831	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	21
832	c	RTN065	Retinitis Pigmentosa 36	21
833	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	21
834	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	21
835	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	21
836	c	RTN213	Retinitis Pigmentosa 80	21
837	c	HRN024	Horner Syndrome, Congenital	21
838		PHC001	Phacolytic Glaucoma	21
839	P	ERL043	Early-Onset Nuclear Cataract	21
840		SPS087	Spasmus Nutans	21
841	c	CTR105	Cataract 12, Multiple Types	21
842		PRL018	Purulent Endophthalmitis	21
843	c	MYS065	Myasthenic Syndrome, Congenital, 18	21
844		CRN023	Corneal Deposit	21
845		MCR220	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus	21
846		MRG001	Morgagni Cataract	21
847	c	EPL129	Epileptic Encephalopathy, Early Infantile, 25	21
848	c	RTN148	Retinitis Pigmentosa 63	21
849		EXT029	Extraocular Retinoblastoma	21
850	c	CTS031	Cutis Laxa, Autosomal Dominant 2	21
851	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	21
852	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	20
853	c	CTR176	Cataract, Age-Related Nuclear	20
854		ISL084	Isolated Trigonocephaly	20
855	c	RTN085	Retinitis Pigmentosa 54	20
856	c	CTR165	Cataract 19, Multiple Types	20
857		INT012	Interval Angle-Closure Glaucoma	20
858	c	MCR272	Microcephaly and Chorioretinopathy, Autosomal Recessive, 3	20
859	c	CTR159	Cataract 35	20
860	c	CTR182	Cataract 23, Multiple Types	20
861	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	20
862	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	20
863	c	CTR116	Cataract 15, Multiple Types	20
864		SPR019	Superficial Keratitis	20
865	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	20
866	P	PTT054	Patterned Macular Dystrophy	20
867		ERY043	Euryblepharon	20
868	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	20
869		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	20
870	c	MCL071	Macular Dystrophy, Patterned, 2	20
871	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	20
872	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	20
873	c	RTN130	Retinitis Pigmentosa 46	20
874	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	20
875		PRL006	Paralytic Lagophthalmos	20
876	c	STC012	Stickler Syndrome, Type Iv	20
877		SLR002	Solar Retinopathy	20
878	c	NGH024	Night Blindness, Congenital Stationary, Type 1h	20
879	c	LBR029	Leber Congenital Amaurosis 17	20
880	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	20
881		ORB019	Orbital Margin, Hypoplasia of	20
882	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	20
883	c	SPS013	Spastic Paraplegia 8	20
884	P	IDP049	Idiopathic Anterior Uveitis	20
885		NTH002	Nathalie Syndrome	20
886	c	CTR183	Cataract 38	20
887		CNR016	Cone-Rod Dystrophy 7	20
888	c	SPS020	Spastic Paraplegia 1	20
889		PHL001	Phlyctenulosis	20
890		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	20
891	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	20
892	c	CTR136	Cataract 41	20
893	c	GLC054	Glaucoma 3, Primary Congenital, D	20
894	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	20
895		EYD001	Eye Degenerative Disease	20
896	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	20
897	c	CTR097	Cataract 34, Multiple Types	20
898	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	20
899		OCL057	Oculotrichodysplasia	20
900	c	CTR111	Cataract 36	20
901	c	NGH008	Night Blindness, Congenital Stationary, Autosomal Dominant 3	19
902		MTR058	Maternally-Inherited Progressive External Ophthalmoplegia	19
903	c	CTR163	Cataract 46, Juvenile-Onset	19
904		CRN007	Corneal Staphyloma	19
905	c	GLL040	Galloway-Mowat Syndrome 3	19
906		CNR012	Cone-Rod Dystrophy 11	19
907	c	MYS077	Myasthenic Syndrome, Congenital, 15	19
908	c	EXD006	Exudative Vitreoretinopathy 5	19
909		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	19
910	c	MCL052	Macular Degeneration, Age-Related, 13	19
911		CNR024	Cone-Rod Dystrophy 13	19
912	c	SPN363	Spinocerebellar Ataxia, X-Linked 4	19
913	c	CRB168	Cerebroretinal Microangiopathy with Calcifications and Cysts 2	19
914		ACC002	Accommodative Spasm	19
915		RTN158	Retinitis Pigmentosa with or Without Situs Inversus	19
916	c	EXD010	Exudative Vitreoretinopathy 6	19
917	c	DNR004	Duane Retraction Syndrome 2	19
918	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	19
919		CNR025	Cone-Rod Dystrophy 15	19
920	c	HRD188	Hereditary Spastic Paraplegia 72	19
921		CMB076	Combined Oxidative Phosphorylation Deficiency 31	19
922	c	STC011	Stickler Syndrome, Type V	19
923		NWF001	Newfoundland Rod-Cone Dystrophy	19
924	c	RTN192	Retinitis Pigmentosa 77	19
925		EPB002	Epiblepharon	19
926	c	RTN180	Retinitis Pigmentosa 74	19
927	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	19
928		SPN356	Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia	19
929		CNR030	Cone-Rod Dystrophy 20	19
930	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	19
931	c	LBR017	Leber Congenital Amaurosis 7	19
932		BTH002	Bothnia Retinal Dystrophy	19
933		PPL023	Pupil Disease	19
934		NCL001	Nuclear Senile Cataract	19
935		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	19
936		MCR307	Microspherophakia-Metaphyseal Dysplasia	19
937	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	19
938	c	MCL061	Macular Dystrophy, Vitelliform, 4	19
939		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	19
940	c	SPS042	Spastic Paraplegia 9	19
941		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	19
942	c	SPS037	Spastic Paraplegia 31	19
943		DST044	Distal Trisomy 14q	19
944	c	NGH021	Night Blindness, Congenital Stationary, Autosomal Dominant 1	19
945		CNR021	Cone-Rod Dystrophy 10	18
946		OPH014	Ophthalmomandibulomelic Dysplasia	18
947	c	CTR139	Cataract 42	18
948	c	USH043	Usher Syndrome, Type Ih	18
949	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	18
950		DPK001	Deep Keratitis	18
951	c	GLL041	Galloway-Mowat Syndrome 4	18
952	c	CHR059	Chronic Endophthalmitis	18
953	c	NGH022	Night Blindness, Congenital Stationary, Type 1g	18
954		FCL013	Focal Chorioretinitis	18
955		SCL011	Sclerosing Keratitis	18
956		CRN126	Corneal Dystrophy, Lisch Epithelial	18
957	c	ANT087	Anterior Segment Dysgenesis 6	18
958	c	LBR006	Leber Congenital Amaurosis 11	18
959	c	CTR178	Cataract 27	18
960		CCT003	Cicatricial Entropion	18
961	c	EXD007	Exudative Vitreoretinopathy 3	18
962	c	ANT067	Anterior Segment Dysgenesis 8	18
963	c	SPS034	Spastic Paraplegia 26	18
964	c	RTN063	Retinitis Pigmentosa 34	18
965	c	PSD047	Pseudo-Turner Syndrome	18
966	c	SPS027	Spastic Paraplegia 17	18
967		MNT308	Mental Retardation with Optic Atrophy, Deafness, and Seizures	18
968	c	RTN196	Retinitis Pigmentosa 78	18
969		IDP006	Idiopathic Corneal Edema	18
970		AQS001	Aqueous Misdirection	18
971	c	CTR157	Cataract 28	18
972	c	MCL056	Macular Dystrophy, Vitelliform, 5	18
973		DST036	Distal Trisomy 15q	18
974	c	CTR110	Cataract 26, Multiple Types	18
975	c	VTR009	Vitreoretinochoroidopathy Dominant	18
976	c	GLL042	Galloway-Mowat Syndrome 5	18
977	c	CTR106	Cataract 20, Multiple Types	18
978	c	RTN061	Retinitis Pigmentosa 32	18
979		CNJ004	Conjunctival Pigmentation	18
980		ARG003	Argyll Robertson Pupil	18
981	c	CTR144	Cataract 43	18
982	c	SPS028	Spastic Paraplegia 18	17
983	c	SPS041	Spastic Paraplegia 6	17
984	c	CTR185	Cataract 30	17
985		RTN170	Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities	17
986	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	17
987		SCL008	Scleromalacia Perforans	17
988	c	NYS003	Nystagmus 2, Congenital, Autosomal Dominant	17
989	c	CTR160	Cataract 45	17
990	c	RTN214	Retinitis Pigmentosa 81	17
991		PLS001	Pulsating Exophthalmos	17
992		CNR017	Cone-Rod Dystrophy 9	17
993		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	17
994		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	17
995	c	RTN206	Retinitis Pigmentosa, Late-Adult Onset	17
996		RTN004	Retinal Microaneurysm	17
997		MNF001	Monofixation Syndrome	17
998		NMN008	Niemann-Pick Disease Type C, Severe Perinatal Form	17
999	c	EXD012	Exudative Vitreoretinopathy 7	17
1000	P	MCL058	Macular Degeneration, Early-Onset	17
1001	c	SPS023	Spastic Paraplegia 13	17
1002	c	GLC079	Glaucoma 1, Open Angle, P	17
1003		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	17
1004		CTR107	Cataract 13 with Adult I Phenotype	17
1005		MNS013	Monosomy 13q34	17
1006	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	17
1007		ESS005	Essential Iris Atrophy	17
1008		RTN185	Retinal Dysplasia, Primary	17
1009	c	LKD027	Leukodystrophy, Hypomyelinating, 14	17
1010	c	LKD028	Leukodystrophy, Hypomyelinating, 15	17
1011	c	LKD030	Leukodystrophy, Hypomyelinating, 17	17
1012	c	CHR088	Chronic Inflammation of Lacrimal Passage	17
1013	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	16
1014	c	CRN280	Cornea Plana 2, Autosomal Recessive	16
1015	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	16
1016	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	16
1017	P	MCL035	Macular Dystrophy, Retinal, 2	16
1018		CRY030	Cryptophthalmos, Unilateral or Bilateral, Isolated	16
1019	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	16
1020		HYP667	Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	16
1021	c	MCL039	Macular Degeneration, Age-Related, 8	16
1022	c	NYS005	Nystagmus 4, Congenital, Autosomal Dominant	16
1023		CNR026	Cone-Rod Dystrophy 18	16
1024		ABN001	Abnormal Retinal Correspondence	16
1025		EXP003	Exophthalmic Ophthalmoplegia	16
1026	c	SPS080	Spastic Paraplegia 51	16
1027	c	STC007	Stickler Syndrome, Type 3	16
1028	c	MCL041	Macular Degeneration, Age-Related, 7	16
1029		PDT010	Pediatric Intraocular Retinoblastoma	16
1030	P	OGC002	Oguchi Disease 2	16
1031	c	GLC089	Glaucoma 3, Primary Congenital, E	16
1032	c	MCL077	Macular Degeneration, Age-Related, 5	16
1033		PRS110	Persistent Placoid Maculopathy	16
1034		CHN047	Chondroectodermal Dysplasia with Night Blindness	16
1035		PDT013	Pediatric Extraocular Retinoblastoma	16
1036	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	16
1037		CNR027	Cone-Rod Dystrophy 17	16
1038		NND003	Non-Distal Trisomy 10q	16
1039	P	ACT077	Acute Orbital Inflammation	16
1040		CNR029	Cone-Rod Dystrophy 19	16
1041		HRD017	Hordeolum Externum	15
1042		PHC015	Phacoanaphylactic Uveitis	15
1043	c	MCL032	Macular Degeneration, Age-Related, 11	15
1044		CNR023	Cone-Rod Dystrophy 8	15
1045	c	MCL051	Macular Degeneration, Age-Related, 12	15
1046		ULC003	Ulcerative Blepharitis	15
1047	c	LKD029	Leukodystrophy, Hypomyelinating, 16	15
1048		CNR013	Cone-Rod Dystrophy 12	15
1049	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	15
1050	c	SPS032	Spastic Paraplegia 24	15
1051	c	SPS033	Spastic Paraplegia 25	15
1052	c	SPS035	Spastic Paraplegia 29	15
1053	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	15
1054	c	MCL038	Macular Degeneration, Age-Related, 4	15
1055	c	MCL036	Macular Degeneration, Age-Related, 6	15
1056		RTC011	Reticular Dystrophy of Retinal Pigment Epithelium	15
1057		EYC003	Eye Accommodation Disease	15
1058		MCR317	Macrophthalmia, Colobomatous, with Microcornea	15
1059		DST082	Distal Trisomy 10q	15
1060		ALT004	Alternating Esotropia	15
1061	c	SPS022	Spastic Paraplegia 12	15
1062		BLN008	Blind Hypotensive Eye	15
1063		VCL007	Vocal Cord Paralysis and Ptosis	15
1064		CRT080	Cortical Blindness, Retardation, and Postaxial Polydactyly	15
1065		MCH006	Mechanical Strabismus	15
1066		IGG009	Igg4-Related Ophthalmic Disease	15
1067	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	15
1068	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	14
1069		ACT038	Acute Retrobulbar Neuritis	14
1070		NSL017	Nasolacrimal Duct Cyst	14
1071	c	SPS026	Spastic Paraplegia 16	14
1072	c	SPS161	Spastic Paraplegia 32	14
1073	c	CTR128	Cataract 33	14
1074	c	MCL044	Macular Degeneration, Age-Related, 9	14
1075	c	MCL065	Macular Degeneration, Age-Related, 15	14
1076		CYC003	Cyclotropia	14
1077	c	SPS038	Spastic Paraplegia 39	14
1078		NNH011	Non-Hereditary Retinoblastoma	14
1079		MYC004	Mycotic Corneal Ulcer	14
1080	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	14
1081	c	RTN208	Retinopathy, Pericentral Pigmentary, Autosomal Recessive	14
1082	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	14
1083	c	NYS004	Nystagmus 3, Congenital, Autosomal Dominant	14
1084		ALT003	Alternating Exotropia	14
1085		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	14
1086	c	EFM001	Efemp2-Related Cutis Laxa	14
1087	c	SPS029	Spastic Paraplegia 19	14
1088	c	MLT167	Multiple Mitochondrial Dysfunctions Syndrome 6	14
1089		GNR029	Generalized Galactose Epimerase Deficiency	14
1090		ORB018	Orbital Leiomyoma	14
1091		EPT023	Epithelial and Subepithelial Dystrophy	14
1092	P	RTN200	Retinopathy, Pericentral Pigmentary, Dominant	14
1093		DSS005	Dissociated Nystagmus	14
1094		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1095	c	LTB003	Ltbp4-Related Cutis Laxa	14
1096	c	NYS016	Nystagmus 7, Congenital, Autosomal Dominant	14
1097	c	MCL026	Macular Dystrophy, Retinal, 3	14
1098		MYP060	Myopic Macular Degeneration	13
1099		CLF040	Cleft Lip-Retinopathy Syndrome	13
1100	c	CTR025	Cataract, Total Congenital	13
1101		ANG003	Angelucci's Syndrome	13
1102	c	GLC052	Glaucoma 3, Primary Congenital, C	13
1103		BLT023	Bilateral Acute Depigmentation of the Iris	13
1104		CNJ002	Conjunctival Folliculosis	13
1105	c	CRN279	Cornea Plana 1, Autosomal Dominant	13
1106	c	SCL053	Sclerocornea, Autosomal Dominant	13
1107		CNG400	Congenital Hereditary Endothelial Dystrophy Type I	13
1108		CNG335	Congenital Ectropion Uveae	13
1109		ERL036	Early-Onset Posterior Subcapsular Cataract	13
1110		EPT024	Epithelial-Stromal Tgfbi Dystrophy	12
1111	c	INF152	Infectious Posterior Uveitis	12
1112	c	ACT030	Acute Dacryoadenitis	12
1113		SVR082	Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	12
1114		INT176	Intraocular Medulloepithelioma	12
1115	P	IDP065	Idiopathic Macular Telangiectasia Type 1	12
1116	c	MLT069	Multiple Mitochondrial Dysfunctions Syndrome 2	12
1117	c	SPS024	Spastic Paraplegia 14	12
1118		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	12
1119	c	CNT026	Central Corneal Ulcer	12
1120	c	FRM005	Frmd7-Related Infantile Nystagmus	12
1121		CNT088	Central Cloudy Dystrophy of Francois	12
1122	P	ACT070	Acute Inflammation of Lacrimal Passage	12
1123		PRD026	Pre-Descemet Corneal Dystrophy	12
1124		NDL008	Nodular Episcleritis	12
1125		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	12
1126		PRG116	Progressive Supranuclear Palsy-Corticobasal Syndrome	12
1127		ORB003	Orbital Tenonitis	11
1128		9Q3002	9q33.3q34.11 Microdeletion Syndrome	11
1129		MNC001	Monocular Esotropia	11
1130		CRT003	Cortical Senile Cataract	11
1131	c	ACQ002	Acquired Night Blindness	11
1132	c	SPS040	Spastic Paraplegia 5b	11
1133		CRN002	Corneal Argyrosis	11
1134		HYP062	Hypopyon Ulcer	11
1135		CNJ011	Conjunctival Deposit	11
1136		PSD006	Pseudopterygium	11
1137	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	11
1138	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	11
1139	c	ATS186	Autosomal Recessive Spastic Paraplegia Type 68	11
1140	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	11
1141	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	11
1142	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	11
1143	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	11
1144	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	11
1145		MCH001	Mechanical Ectropion	11
1146		CNG357	Congenital Symblepharon	11
1147	c	GLC048	Glaucoma 1, Open Angle, I	11
1148		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	11
1149		INT026	Intermittent Proptosis	11
1150		ERY041	Erythrocyte Galactose Epimerase Deficiency	10
1151		THY013	Thyrotoxic Exophthalmos	10
1152		OPH003	Ophthalmia Nodosa	10
1153		CNT011	Contact Blepharoconjunctivitis	10
1154		SPS001	Spastic Ectropion	10
1155	c	USH011	Usher Syndrome, Type 2b	10
1156		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
1157		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
1158		EQT001	Equatorial Staphyloma	10
1159		STP001	Staphyloma Posticum	10
1160	c	CHR035	Chronic Dacryoadenitis	10
1161		HST002	Histoplasmosis Retinitis	9
1162	c	CNG433	Congenital Cornea Plana	9
1163		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	9
1164		INT008	Intermittent Squint	9
1165	c	LTN017	Late-Infantile/juvenile Krabbe Disease	9
1166	c	ADL071	Adult Krabbe Disease	9
1167		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
1168		CCT004	Cicatricial Lagophthalmos	9
1169	c	NYS019	Nystagmus, Congenital, Autosomal Recessive	9
1170		ACT168	Acute Annular Outer Retinopathy	9
1171		MRG002	Marginal Corneal Ulcer	9
1172		STR016	Steroid-Induced Glaucoma - Borderline	9
1173	c	CHR061	Chronic Canaliculitis	9
1174	c	INF166	Infantile Epileptic Encephalopathy 55	9
1175	c	INF169	Infantile Epileptic Encephalopathy 59	9
1176		IDP047	Idiopathic Panuveitis	9
1177		MNM005	Minimal Pigment Oculocutaneous Albinism Type 1	8
1178		ETH013	Euthyroid Graves Orbitopathy	8
1179		TRN011	Transient Refractive Change	8
1180		DFF011	Diffuse Interstitial Keratitis	8
1181	c	FBL003	Fbln5-Related Cutis Laxa	8
1182	c	SDR001	Siderosis of Eye	8
1183		FND005	Fundus Pulverulentus	8
1184	c	IDP048	Idiopathic Posterior Uveitis	8
1185	c	IDP066	Idiopathic Macular Telangiectasia Type 3	8
1186		BRD008	Borderline Glaucoma	8
1187		INV017	Inverse Marcus-Gunn Phenomenon	8
1188	P	TTL001	Total Internal Ophthalmoplegia	8
1189		BLL005	Bullous Retinoschisis	8
1190		BRW005	Brawny Scleritis	8
1191	c	INF165	Infantile Epileptic Encephalopathy 56	8
1192	c	INF167	Infantile Epileptic Encephalopathy 57	8
1193	c	INF168	Infantile Epileptic Encephalopathy 58	8
1194		ABN004	Abnormal Pupillary Function	8
1195		3Q2004	3q26 Microduplication Syndrome	8
1196		PLZ007	Pelizaeus-Merzbacher Disease, Classic Form	8
1197		PRG115	Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome	8
1198		PHK009	Phakomatosis Cesiomarmorata	8
1199		OKH001	Okihiro Syndrome Due to a Point Mutation	8
1200		IDP043	Idiopathic Uveal Effusion Syndrome	8
1201		ACQ003	Acquired Tear Duct Stenosis	8
1202		LNS002	Lens-Induced Iridocyclitis	8
1203	c	ERL039	Early-Onset Anterior Polar Cataract	8
1204	c	GLC032	Glaucoma, Hereditary	8
1205		MRN008	Marin-Amat Syndrome	7
1206	P	JVN036	Juvenile Sialidosis Type 2	7
1207	c	CNG348	Congenital Sialidosis Type 2	7
1208	c	PST012	Posterior Corneal Pigmentation	7
1209		PRG117	Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome	7
1210	c	SCN003	Secondary Corneal Edema	7
1211		TTN002	Tetanic Cataract	7
1212		PST025	Posterior Dislocation of Lens	7
1213		ANG010	Angular Blepharoconjunctivitis	7
1214		ORB005	Orbital Periostitis	7
1215		STR006	Stromal Corneal Pigmentation	7
1216		NDL004	Nodular Degeneration of Cornea	7
1217	c	GLL043	Galloway-Mowat Syndrome 2	7
1218		DST090	Distal Trisomy 2p	7
1219		PLZ008	Pelizaeus-Merzbacher Disease, Transitional Form	7
1220	c	CTR008	Cataract Congenital Autosomal Dominant	7
1221		TRS020	Tarsal Kink Syndrome	7
1222		PHK010	Phakomatosis Spilorosea	7
1223	P	ANT008	Anterior Corneal Pigmentation	7
1224		STB001	Stable Condition Keratoconus	6
1225		RNG002	Ring Corneal Ulcer	6
1226		RSD002	Residual Stage of Open Angle Glaucoma	6
1227		PHL004	Phlegmonous Dacryocystitis	6
1228		DBL001	Double Pterygium	6
1229		CNT008	Contact Lens Corneal Edema	6
1230		HYP023	Hypersecretion Glaucoma	6
1231		CNJ008	Conjunctival Concretion	6
1232		LXT001	Luxation of Globe	6
1233		STN002	Stenosis of Lacrimal Punctum	6
1234		SQM003	Squamous Blepharitis	6
1235		SCL005	Scleroperikeratitis	6
1236	P	ACT026	Acute Canaliculitis	6
1237	c	SCN004	Secondary Vitreoretinal Degeneration	6
1238		DSS001	Disseminated Chorioretinitis	6
1239		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
1240		MLT117	Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	6
1241		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	6
1242		ACT005	Acute Hydrops Keratoconus	6
1243		MCH004	Mechanical Entropion	6
1244		RTN189	Retinal Capillary Malformation	6
1245		LCR003	Lacrimal Passage Granuloma	6
1246		MNC005	Monocular Exotropia	6
1247		STN003	Stenosis of Lacrimal Passage	6
1248	c	MCR282	Microcephaly and Chorioretinopathy 1	6
1249	c	MCR283	Microcephaly and Chorioretinopathy 2	6
1250	c	MCR284	Microcephaly and Chorioretinopathy 3	6
1251		PTR027	Peters Anomaly-Cataract Syndrome	6
1252		PLZ009	Pelizaeus-Merzbacher Disease in Female Carriers	6
1253		BWM001	Bowman's Membrane Folds or Rupture	6
1254		MCL004	Macular Keratitis	6
1255		ABN003	Abnormal Threshold of Rods	6
1256		EPS002	Episcleritis Periodica Fugax	6
1257		GNC007	Gonococcal Keratitis	6
1258		GNC008	Gonococcal Endophthalmia	6
1259		CNT022	Central Gyrate Choroidal Dystrophy	6
1260	P	RBN007	Rubinstein Taybi Like Syndrome	5
1261	c	INF151	Infectious Panuveitis	5
1262		PRM009	Primary Eye Hypotony	5
1263		LTR005	Lateral Displacement of Eye	5
1264		PRG012	Progressive Peripheral Pterygium	5
1265		LCL001	Localized Anterior Staphyloma	5
1266	P	PRM007	Primary Lacrimal Atrophy	5
1267		RSD001	Residual Stage Angle-Closure Glaucoma	5
1268		PRP014	Peripheral Degeneration of Cornea	5
1269		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	5
1270		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	5
1271		GRY003	Grayson-Wilbrandt Corneal Dystrophy	5
1272		INF115	Infectious Epithelial Keratitis	5
1273		PRP012	Peripheral Focal Chorioretinitis	5
1274		VTR004	Vitreous Abscess	5
1275		TTL003	Total Circumpapillary Dystrophy of Choroid	5
1276		CMP057	Complete Cryptophthalmia	5
1277		PRT091	Partial Cryptophthalmia	5
1278		ISL065	Isolated Congenital Alacrima	5
1279		ERL027	Early-Onset Non-Syndromic Cataract	5
1280		ERL042	Early-Onset Partial Cataract	5
1281		MCH005	Mechanical Lagophthalmos	5
1282		SPP006	Suppurative Uveitis	5
1283		RTN009	Retinal Dystrophies Primarily Involving Bruch's Membrane	5
1284		ANT015	Anatomical Narrow Angle Borderline Glaucoma	5
1285	P	EPP002	Epiphora Due to Excess Lacrimation	5
1286	c	SCN002	Secondary Lacrimal Atrophy	5
1287		ANT012	Anterior Dislocation of Lens	5
1288		STN001	Stenosis of Lacrimal Sac	5
1289		GNC004	Gonococcal Iridocyclitis	5
1290		SMP002	Simple Chronic Conjunctivitis	5
1291		DFF008	Diffuse Secondary Choroid Atrophy	5
1292		CNS003	Constant Exophthalmos	5
1293		RNG001	Ring Staphyloma	5
1294		BLN007	Blind Hypertensive Eye	5
1295		PHT005	Phthisical Cornea	5
1296		CNT006	Central Pterygium	5
1297		EVR001	Eversion of Lacrimal Punctum	5
1298	c	EPP001	Epiphora Due to Insufficient Drainage	5
1299		MYT001	Myotonic Cataract	5
1300		FLT003	Flat Retinoschisis	5
1301		PRT016	Partial Circumpapillary Choroid Dystrophy	5
1302		RSD003	Residual Stage Corticosteroid-Induced Glaucoma	5
1303	c	ATS022	Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract	5
1304	c	GLC029	Glaucoma Type 1c	4
1305	c	GLC033	Glaucoma, Hereditary Adult Type 1a	4
1306	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	4
1307	c	GLC035	Glaucoma, Primary Infantile Type 3a	4
1308		ISL071	Isolated Congenital Ectropion	4
1309		HNY001	Honey-Droplet Corneal Dystrophy	4
1310		IDP050	Idiopathic Linear Interstitial Keratitis	4
1311		PRS026	Parasitic Conjunctivitis	4
1312		DYS010	Dystrophies Primarily Involving the Retinal Pigment Epithelium	4
1313		RSC002	Rosacea Conjunctivitis	4
1314		SNL006	Senile Atrophy of Choroid	4
1315		ANG008	Angioid Streaks of Choroid	4
1316	c	RTN181	Retinitis Pigmentosa 2, X-Linked	4
1317	c	FML317	Familial Monosomy 7 Syndrome	4
1318		INT284	Intellectual Disability-Cataracts-Kyphosis Syndrome	4
1319		ATS361	Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome	4
1320		RTN007	Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses	4
1321	c	MCR048	Microcephaly Chorioretinopathy Recessive Form	4
1322	c	MCR059	Microcephaly with Chorioretinopathy, Autosomal Dominant Form	4
1323	P	CHR168	Chorioretinopathy Dominant Form Microcephaly	4
1324		PRN060	Paraneoplastic Uveitis	3
1325		PPL048	Papillorenal Syndrome	50
1326	P	LBR001	Leber Congenital Amaurosis	64
1327	c	MCL042	Macular Degeneration, Age-Related, 1	84
1328		OPT008	Optic Nerve Neoplasm	38
1329	c	USH036	Usher Syndrome, Type I	60
1330	P	USH001	Usher Syndrome	58
1331	c	USH038	Usher Syndrome, Type Iiia	43
1332		KRN002	Kearns-Sayre Syndrome	60
1333		RTN015	Retinal Cancer	53
1334	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	49
1335	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	40
1336	c	HRD094	Hereditary Motor and Sensory Neuropathy, Type Iic	39
1337	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	32
1338	P	NRP059	Neuropathy, Hereditary Motor and Sensory, Type Via	31
1339	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
1340	c	HRD138	Hereditary Motor and Sensory Neuropathy V	26
1341	c	NRP043	Neuropathy, Hereditary Motor and Sensory, Type Vib	25
1342		OCL031	Oculo-Cerebral Dysplasia	13
1343		BRK005	Berk-Tabatznik Syndrome	9
1344	c	GDP003	Gdap1-Related Hereditary Motor and Sensory Neuropathy	6
1345		ECZ002	Eczema Herpeticum	49
1346		BRD025	Birdshot Chorioretinopathy	51
1347	c	WRB002	Warburg Micro Syndrome 1	42
1348	c	WRB005	Warburg Micro Syndrome 4	37
1349		ALN001	Aland Island Eye Disease	37
1350		DYN002	Doyne Honeycomb Retinal Dystrophy	35
1351	c	WRB003	Warburg Micro Syndrome 2	33
1352	P	WRB001	Warburg Micro Syndrome	32
1353	c	WRB004	Warburg Micro Syndrome 3	23
1354		STH001	Saethre-Chotzen Syndrome	63
1355		OPT007	Optic Nerve Glioma	46
1356	P	SPS008	Spastic Ataxia	33
1357	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
1358	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	27
1359	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	23
1360	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	23
1361	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	23
1362		CRT082	Cortical Dysplasia, Complex, with Other Brain Malformations 8	23
1363	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	20
1364	c	SPS214	Spastic Ataxia 4	9
1365	c	SPS171	Spastic Ataxia 5	9
1366	c	SPS162	Spastic Ataxia 1	8
1367	c	SPS163	Spastic Ataxia 3	8
1368	c	SPS170	Spastic Ataxia 2	7
1369	c	SPS229	Spastic Ataxia 8	7
1370	c	SPS172	Spastic Ataxia 7	7
1371		PPL021	Papilledema	49
1372		RTN011	Retina Lymphoma	28
1373	c	OPT025	Optic Atrophy 6	21
1374		RTN123	Retinochoroidal Coloboma	19
1375		MLN018	Moloney Syndrome	18
1376		MPN002	Mepan Syndrome	8
1377		OCL009	Ocular Cancer	60
1378	P	PNT019	Pontocerebellar Hypoplasia	41
1379		KLV001	Kluver-Bucy Syndrome	41
1380	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	40
1381	c	PNT036	Pontocerebellar Hypoplasia, Type 6	40
1382	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	40
1383	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	37
1384	c	PNT010	Pontocerebellar Hypoplasia Type 1	35
1385	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	33
1386	c	PNT037	Pontocerebellar Hypoplasia, Type 3	32
1387	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	31
1388	c	PNT033	Pontocerebellar Hypoplasia, Type 10	31
1389	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	30
1390	c	PNT043	Pontocerebellar Hypoplasia, Type 4	30
1391	c	PNT032	Pontocerebellar Hypoplasia, Type 9	29
1392	c	PNT046	Pontocerebellar Hypoplasia, Type 5	28
1393		MNT006	Manitoba Oculotrichoanal Syndrome	26
1394	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
1395	c	PNT039	Pontocerebellar Hypoplasia, Type 7	25
1396	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	24
1397	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	24
1398	c	PNT050	Pontocerebellar Hypoplasia, Type 11	23
1399	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	21
1400	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	10
1401	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	8
1402		3MC003	3mc Syndrome	42
1403		IRD003	Iridocorneal Endothelial Syndrome	27
1404		ENC047	Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum	24
1405		WBB001	Webb-Dattani Syndrome	22
1406		ATX047	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation	14
1407		LPS006	Lopes Gorlin Syndrome	6
1408	P	FCS002	Fucosidosis	60
1409		RTN020	Retinal Vascular Disease	46
1410		OCL011	Ocular Motility Disease	41
1411		ANK013	Ankyloblepharon Filiforme Adnatum and Cleft Palate	24
1412		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	16
1413		ULR001	Ulerythema Ophryogenesis	15
1414		RTN010	Retinal Melanoma	9
1415	c	FCS008	Fucosidosis Type 1	8
1416		ALG004	Al Gazali Khidr Prem Chandran Syndrome	7
1417		PGN001	Pagon Stephan Syndrome	7
1418		SLN003	Silengo Lerone Pelizza Syndrome	4
1419		RTN076	Retinopathy, Arteriosclerotic	4
1420		OPT022	Optic Atrophy 1 and Deafness	3
1421		OPT027	Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia	3
1422	P	RTN008	Retinitis Pigmentosa	81
1423		MRF001	Marfan Syndrome	74
1424	P	MTC003	Metachromatic Leukodystrophy	71
1425	P	MCR115	Microvascular Complications of Diabetes 5	71
1426	P	TYS001	Tay-Sachs Disease	71
1427		FBR012	Fabry Disease	71
1428		CRZ001	Crouzon Syndrome	70
1429	P	LYM118	Lymphoma	70
1430		WRN001	Werner Syndrome	69
1431	P	KRB001	Krabbe Disease	69
1432	P	CHR012	Chronic Granulomatous Disease	69
1433	P	NRF023	Neurofibromatosis, Type Ii	68
1434	P	TBR001	Tuberous Sclerosis	68
1435	P	TRN020	Turner Syndrome	68
1436	c	MYT021	Myotonic Dystrophy 1	68
1437		APR006	Apert Syndrome	68
1438		SCH036	Scheie Syndrome	68
1439	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
1440	P	MCL013	Mucolipidosis Iv	67
1441		BHC003	Behcet Syndrome	67
1442		CNR004	Cone-Rod Dystrophy 2	67
1443	P	PSD087	Pseudoxanthoma Elasticum	67
1444	c	NRF024	Neurofibromatosis, Type I	66
1445	P	ANR048	Aniridia 1	65
1446		CHD001	Chediak-Higashi Syndrome	65
1447	P	ASP006	Aspergillosis	65
1448		GLC006	Galactosemia	65
1449	c	TBR026	Tuberous Sclerosis 2	65
1450	P	CRN015	Cornelia De Lange Syndrome	64
1451	P	FRD012	Friedreich Ataxia 1	64
1452		SND001	Sandhoff Disease	64
1453		CRB011	Cerebrotendinous Xanthomatosis	63
1454	c	MCP050	Mucopolysaccharidosis, Type Ii	63
1455		WLL001	Williams-Beuren Syndrome	63
1456	c	MCL062	Mucolipidosis Ii Alpha/beta	63
1457	P	KBK002	Kabuki Syndrome 1	63
1458	c	MCP049	Mucopolysaccharidosis, Type Vii	63
1459	c	TBR025	Tuberous Sclerosis 1	62
1460		KRT001	Keratoconjunctivitis Sicca	62
1461	c	MCP024	Mucopolysaccharidosis Type Vi	62
1462	P	GCH001	Gaucher's Disease	62
1463	P	BRD002	Bardet-Biedl Syndrome	62
1464		PTR032	Peters-Plus Syndrome	62
1465	P	OST001	Osteopetrosis	61
1466	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
1467	P	TRC072	Treacher Collins Syndrome 1	61
1468		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	61
1469	c	MCR129	Microvascular Complications of Diabetes 1	61
1470		MCR013	Microphthalmia	60
1471		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	60
1472		VGT001	Vogt-Koyanagi-Harada Disease	60
1473	c	SPN327	Spinocerebellar Ataxia, Autosomal Recessive 1	60
1474	c	MCP001	Mucopolysaccharidosis Iii	60
1475	P	STR022	Stargardt Disease	59
1476	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	59
1477	c	BRD014	Bardet-Biedl Syndrome 2	58
1478		HMF006	Hemifacial Microsomia	58
1479		ICH054	Ichthyosis, X-Linked	58
1480	P	MLN069	Melanoma, Uveal	58
1481	P	EPD009	Epidermolysis Bullosa Dystrophica	58
1482	P	WRD001	Waardenburg's Syndrome	58
1483	c	SPN294	Spinocerebellar Ataxia 1	58
1484	P	HLL001	Hallermann-Streiff Syndrome	58
1485	P	OCL013	Oculodentodigital Dysplasia	57
1486	c	GNG001	Gangliosidosis Gm1	57
1487	c	MYT020	Myotonic Dystrophy 2	56
1488	c	PRX045	Peroxisome Biogenesis Disorder 1b	56
1489	P	RTH001	Rothmund-Thomson Syndrome	56
1490	c	MNN047	Mannosidosis, Alpha B, Lysosomal	56
1491	P	STC001	Stickler Syndrome	56
1492	P	STS008	Sotos Syndrome 1	56
1493	P	SPN301	Spinocerebellar Ataxia 2	56
1494		HRL003	Hurler Syndrome	56
1495		ALK013	Alkaptonuria	56
1496		PRR016	Pierre Robin Syndrome	56
1497		VRN004	Vernal Keratoconjunctivitis	55
1498		CCT002	Cicatricial Pemphigoid	54
1499	c	TYR012	Tyrosinemia, Type I	54
1500		MVL001	Mevalonic Aciduria	54
1501		PBL005	Piebald Trait	54
1502	c	BRD010	Bardet-Biedl Syndrome 1	54
1503		CHR081	Choroideremia	54
1504		KRT002	Keratomalacia	54
1505		ALS001	Alstrom Syndrome	54
1506		PPL025	Popliteal Pterygium Syndrome	54
1507	c	SPN291	Spinocerebellar Ataxia 7	53
1508		CTS003	Coats Disease	53
1509	P	AXN002	Axenfeld-Rieger Syndrome	53
1510		GLC012	Galactosialidosis	53
1511		ALL009	Allergic Conjunctivitis	53
1512	c	PSD066	Pseudohypoparathyroidism, Type Ib	53
1513	c	GLC097	Glaucoma 3, Primary Congenital, a	52
1514	c	MCR113	Microvascular Complications of Diabetes 3	52
1515		KRT019	Keratitis, Hereditary	52
1516	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
1517		VTM028	Vitamin E, Familial Isolated Deficiency of	52
1518		CGN006	Cogan Syndrome	52
1519	c	CCK007	Cockayne Syndrome B	51
1520	c	WRD030	Waardenburg Syndrome, Type 1	51
1521		CYT005	Cytomegalovirus Retinitis	50
1522		PTS001	Patau Syndrome	50
1523		CHR101	Char Syndrome	50
1524	P	MYT002	Myotonic Dystrophy	50
1525	P	PSD015	Pseudohypoparathyroidism	50
1526	P	SCL015	Scleritis	50
1527		INT054	Intraocular Lymphoma	50
1528		MCL027	Macular Dystrophy, Dominant Cystoid	50
1529	c	SPN309	Spinocerebellar Ataxia 6	49
1530	c	MCL046	Mucolipidosis Iii Alpha/beta	49
1531		CTY001	Cat Eye Syndrome	49
1532	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	49
1533	P	WLL002	Weill-Marchesani Syndrome	49
1534		OPS006	Opsoclonus-Myoclonus Syndrome	49
1535	P	KRT005	Keratoacanthoma	49
1536		FCH001	Fuchs' Endothelial Dystrophy	49
1537	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
1538	c	SPN293	Spinocerebellar Ataxia 12	48
1539		SRS007	Sorsby Fundus Dystrophy	48
1540	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	48
1541	P	TYR004	Tyrosinemia	48
1542	c	CCK008	Cockayne Syndrome a	48
1543		ACR012	Aicardi Syndrome	48
1544	P	KRT007	Keratoconus	48
1545	c	STR084	Stargardt Disease 1	48
1546		PRS012	Pars Planitis	47
1547		GLD006	Goldberg-Shprintzen Syndrome	47
1548	P	MNN019	Mannosidosis, Beta a, Lysosomal	47
1549		GLC098	Glaucoma-Related Pigment Dispersion Syndrome	47
1550		TKL001	Tukel Syndrome	47
1551		CRD002	Cri-Du-Chat Syndrome	47
1552	c	SPN314	Spinocerebellar Ataxia 10	47
1553	c	CRN139	Cornelia De Lange Syndrome 1	47
1554	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	46
1555		PST049	Postaxial Acrofacial Dysostosis	46
1556		NRR001	Neuroretinitis	46
1557	c	HRM005	Hermansky-Pudlak Syndrome 1	46
1558	c	TYR013	Tyrosinemia, Type Ii	46
1559		ACR058	Acrofacial Dysostosis 1, Nager Type	46
1560		CHR008	Choroiditis	46
1561	c	HRM006	Hermansky-Pudlak Syndrome 3	46
1562		FRB001	Farber Lipogranulomatosis	46
1563	c	SPN312	Spinocerebellar Ataxia 14	46
1564	c	SPN296	Spinocerebellar Ataxia 17	46
1565		MCL075	Macular Dystrophy, Corneal	46
1566		NRM019	Neuraminidase Deficiency	46
1567		KFR001	Kufor-Rakeb Syndrome	46
1568	c	BRD012	Bardet-Biedl Syndrome 11	45
1569	c	ALB021	Albinism, Oculocutaneous, Type Ii	45
1570		EPD061	Epidermolysis Bullosa, Junctional, Herlitz Type	45
1571		RTN001	Retinal Vasculitis	45
1572	c	BRD044	Bardet-Biedl Syndrome 17	45
1573	c	WRD020	Waardenburg Syndrome, Type 4a	45
1574		BLP046	Blepharophimosis, Ptosis, and Epicanthus Inversus	45
1575	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	45
1576	P	NRD007	Neurodegeneration with Brain Iron Accumulation	45
1577		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	45
1578		FSH001	Fish-Eye Disease	45
1579	c	SPN100	Spinocerebellar Ataxia 27	45
1580		GLC011	Galactose Epimerase Deficiency	45
1581	c	EPD076	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	45
1582	P	CRN276	Corneal Endothelial Dystrophy	45
1583		OCL033	Oculocerebral Syndrome with Hypopigmentation	45
1584		CRN286	Corneal Dystrophy, Meesmann	44
1585		MYP136	Myopathy, Centronuclear, X-Linked	44
1586	c	BRD013	Bardet-Biedl Syndrome 12	44
1587		CNR007	Cone-Rod Dystrophy 6	44
1588	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
1589		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	44
1590	c	SPN311	Spinocerebellar Ataxia 13	44
1591		LRN001	Laurence-Moon Syndrome	44
1592		EST005	Esotropia	44
1593		BLC001	Blue Cone Monochromacy	43
1594		RTN021	Retinal Vascular Occlusion	43
1595	c	SPN305	Spinocerebellar Ataxia 11	43
1596		CND005	Cone Dystrophy	43
1597		CHR211	Chromosome 18p Deletion Syndrome	43
1598		TRP014	Triploidy	42
1599	P	OPT048	Opitz-Gbbb Syndrome	42
1600		SCH076	Schnyder Corneal Dystrophy	42
1601	c	TYR011	Tyrosinemia, Type Iii	42
1602	c	BRD016	Bardet-Biedl Syndrome 4	42
1603		OCL069	Ocular Motor Apraxia	42
1604	c	GM1004	Gm1-Gangliosidosis, Type I	42
1605	c	BRD048	Bardet-Biedl Syndrome 18	42
1606	c	SPN265	Spinocerebellar Ataxia 36	42
1607	c	BRD033	Bardet-Biedl Syndrome 13	41
1608	c	HRM008	Hermansky-Pudlak Syndrome 5	41
1609		CLB010	Coloboma of Macula	41
1610		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	41
1611		GLC004	Galactokinase Deficiency	41
1612	c	BRD011	Bardet-Biedl Syndrome 10	41
1613	c	ALB009	Albinism, Oculocutaneous, Type Ia	41
1614	c	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	41
1615		CHR078	Chorioretinitis	40
1616	c	PRX059	Peroxisome Biogenesis Disorder 1a	40
1617	c	BRD020	Bardet-Biedl Syndrome 8	40
1618	P	CHR637	Choroidal Dystrophy, Central Areolar, 1	40
1619	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	40
1620	c	SPN290	Spinocerebellar Ataxia 15	40
1621	c	MCR263	Microphthalmia, Syndromic 1	40
1622	c	MCR130	Microvascular Complications of Diabetes 6	40
1623	P	ATX024	Ataxia-Oculomotor Apraxia 3	40
1624	P	SPS133	Spastic Paraplegia 2, X-Linked	40
1625	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	40
1626		APL002	Aplasia of Lacrimal and Salivary Glands	40
1627	c	BRD015	Bardet-Biedl Syndrome 3	40
1628	c	SPN103	Spinocerebellar Ataxia 31	40
1629	c	SPN106	Spinocerebellar Ataxia 5	40
1630		HRL004	Hurler-Scheie Syndrome	40
1631	c	BRD032	Bardet-Biedl Syndrome 14	40
1632	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	40
1633	c	SPN308	Spinocerebellar Ataxia 28	39
1634	c	BRD018	Bardet-Biedl Syndrome 6	39
1635		LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	39
1636		GNT006	Giant Papillary Conjunctivitis	39
1637	c	ADL001	Adult Lymphoma	39
1638	c	PST022	Posterior Uveal Melanoma	39
1639		HYP801	Hyperferritinemia with or Without Cataract	39
1640	c	WRD032	Waardenburg Syndrome, Type 2a	39
1641	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	39
1642		DPM007	Dopamine Beta-Hydroxylase Deficiency, Congenital	39
1643		SLF014	Sulfite Oxidase Deficiency, Isolated	38
1644	c	BRD035	Bardet-Biedl Syndrome 15	38
1645	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	38
1646		CHR492	Chromosome 13q14 Deletion Syndrome	38
1647		MTC111	Mitochondrial Neurogastrointestinal Encephalomyopathy	38
1648	c	SPN304	Spinocerebellar Ataxia 8	38
1649	c	GM2005	Gm2-Gangliosidosis, Ab Variant	38
1650		OPH002	Ophthalmia Neonatorum	38
1651		CRN247	Corneal Dystrophy, Thiel-Behnke Type	38
1652	c	LKD009	Leukodystrophy, Hypomyelinating, 5	38
1653	P	GNG010	Gangliosidosis Gm2	37
1654	P	MRN003	Marinesco-Sjogren Syndrome	37
1655	c	BRD017	Bardet-Biedl Syndrome 5	37
1656	c	SPN097	Spinocerebellar Ataxia 23	37
1657	c	MCR120	Microvascular Complications of Diabetes 7	37
1658	c	PSD117	Pseudohypoparathyroidism, Type Ic	36
1659		RHM032	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis	36
1660	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	36
1661	c	OST126	Osteopetrosis, Autosomal Recessive 1	36
1662	c	STC015	Stickler Syndrome, Type I	36
1663	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	36
1664	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	36
1665		CNC014	Cancer-Associated Retinopathy	36
1666		BTT001	Bietti Crystalline Corneoretinal Dystrophy	36
1667	c	SPN299	Spinocerebellar Ataxia 20	36
1668		TLS001	Tolosa-Hunt Syndrome	36
1669		CRN237	Corneal Dystrophy, Avellino Type	36
1670	c	SPN094	Spinocerebellar Ataxia 18	36
1671	P	LTT001	Lattice Corneal Dystrophy	35
1672		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	35
1673	c	WRD024	Waardenburg Syndrome, Type 4c	35
1674		INF129	Infantile Cerebellar-Retinal Degeneration	35
1675		MCL069	Macular Dystrophy, Retinal, 1, North Carolina Type	35
1676		PRP066	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	35
1677	c	MCR133	Microvascular Complications of Diabetes 4	35
1678		JBR005	Joubert Syndrome with Ocular Anomalies	35
1679	c	GM1005	Gm1-Gangliosidosis, Type Ii	35
1680		CNJ009	Conjunctival Cancer	34
1681	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	34
1682	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
1683	c	FML008	Familial Retinoblastoma	34
1684	c	MCL016	Mucolipidosis Iii Gamma	34
1685	c	BRD045	Bardet-Biedl Syndrome 19	34
1686	c	WRD031	Waardenburg Syndrome, Type 3	34
1687		PRL047	Prolonged Electroretinal Response Suppression	34
1688		BLP004	Blepharophimosis	34
1689	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	34
1690	c	HRM009	Hermansky-Pudlak Syndrome 6	33
1691		SPR034	Superior Limbic Keratoconjunctivitis	33
1692	c	PSD104	Pseudohypoparathyroidism, Type Ii	33
1693	c	CRN236	Corneal Dystrophy, Lattice Type I	33
1694		NRT011	Neurotrophic Keratopathy	33
1695	c	BRD047	Bardet-Biedl Syndrome 16	33
1696		PLS030	Plasminogen Deficiency, Type I	33
1697		OCL048	Oculoauricular Syndrome	33
1698	c	OST163	Osteopetrosis, Autosomal Recessive 3	33
1699	c	MCR112	Microvascular Complications of Diabetes 2	33
1700	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	32
1701		FCH002	Fuchs' Heterochromic Uveitis	32
1702	c	HRM011	Hermansky-Pudlak Syndrome 8	32
1703	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	32
1704	c	SPN266	Spinocerebellar Ataxia 35	32
1705	c	OST129	Osteopetrosis, Autosomal Recessive 2	32
1706		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	32
1707		CRN141	Corneal Dystrophy, Reis-Bucklers Type	32
1708		PGM029	Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked	32
1709	c	HRM012	Hermansky-Pudlak Syndrome 9	32
1710	c	WRD010	Waardenburg Syndrome Type 4	32
1711	c	PRX055	Peroxisome Biogenesis Disorder 11a	32
1712	c	SPN101	Spinocerebellar Ataxia 29	32
1713		LCR013	Lacrimal Duct Defect	32
1714		MBM001	Meibomian Cyst	32
1715	c	SPN105	Spinocerebellar Ataxia 4	31
1716	c	ALB010	Albinism, Oculocutaneous, Type Ib	31
1717	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	31
1718	c	SPN095	Spinocerebellar Ataxia 19	31
1719	c	MCP046	Mucopolysaccharidosis, Type Iiid	31
1720	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	31
1721	c	SPN099	Spinocerebellar Ataxia 26	31
1722	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	30
1723	c	MCP048	Mucopolysaccharidosis, Type Ivb	30
1724	c	OST134	Osteopetrosis, Autosomal Recessive 6	30
1725	c	EYL003	Eye Lymphoma	30
1726		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	30
1727		OCL063	Oculopharyngodistal Myopathy	30
1728		CNG041	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	30
1729	P	ALB023	Albinism, Ocular, with Sensorineural Deafness	30
1730	c	CCK002	Cockayne Syndrome Type I	30
1731	c	SPN096	Spinocerebellar Ataxia 21	30
1732		PRG123	Progeroid Syndrome, Neonatal	30
1733	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	30
1734	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	30
1735	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	30
1736	c	SPN104	Spinocerebellar Ataxia 34	29
1737	c	WRD019	Waardenburg Syndrome, Type 4b	29
1738	c	HRM020	Hermansky-Pudlak Syndrome 10	29
1739	c	CCK003	Cockayne Syndrome Type Ii	29
1740		MCL018	Macular Dystrophy, Concentric Annular	29
1741	c	ALB020	Albinism, Oculocutaneous, Type Iii	29
1742	c	GM1006	Gm1-Gangliosidosis, Type Iii	29
1743	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	29
1744	c	STC013	Stickler Syndrome, Type Ii	29
1745		CTR014	Cataract Microcornea Syndrome	29
1746	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
1747	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
1748	P	XLN161	X-Linked Chondrodysplasia Punctata	29
1749		CHR270	Chromosome 9p Duplication	28
1750	c	GCH013	Gaucher Disease, Type Iiic	28
1751		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	28
1752	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	28
1753	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	28
1754		FRN022	Frontofacionasal Dysplasia	28
1755	c	BRD019	Bardet-Biedl Syndrome 7	28
1756	c	HRM010	Hermansky-Pudlak Syndrome 7	28
1757		LGH003	Leigh Syndrome, French Canadian Type	28
1758	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	28
1759	P	FRT001	Fourth Cranial Nerve Palsy	28
1760	c	PRX060	Peroxisome Biogenesis Disorder 5a	28
1761		FML292	Familial Drusen	28
1762		PLM156	Palmoplantar Carcinoma, Multiple Self-Healing	28
1763		TBL025	Tubulointerstitial Nephritis with Uveitis	28
1764		CRN021	Cornea Cancer	28
1765	c	HRM007	Hermansky-Pudlak Syndrome 4	27
1766	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	27
1767	c	SPN383	Spinocerebellar Ataxia 42	27
1768		LMB008	Limb-Mammary Syndrome	27
1769	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	27
1770	c	MCR245	Microphthalmia, Syndromic 8	27
1771	c	PRX053	Peroxisome Biogenesis Disorder 14b	27
1772		RTN035	Retinal Cone Dystrophy 3b	27
1773	c	SPN098	Spinocerebellar Ataxia 25	27
1774	c	PRX056	Peroxisome Biogenesis Disorder 11b	27
1775		3MT022	3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia	27
1776	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	27
1777	c	SPN247	Spinocerebellar Ataxia Type 19/22	27
1778	c	SPN283	Spinocerebellar Ataxia 37	27
1779	c	ANR047	Aniridia 2	27
1780	c	SPN284	Spinocerebellar Ataxia 38	27
1781	c	ALG016	Alagille Syndrome 2	27
1782	P	KRT014	Keratosis Follicularis Spinulosa Decalvans	26
1783		CLB009	Coloboma of Iris	26
1784	c	MCR252	Microphthalmia, Syndromic 5	26
1785		PLY052	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	26
1786	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	26
1787	c	PRX054	Peroxisome Biogenesis Disorder 12a	26
1788	c	SPN372	Spinocerebellar Ataxia 43	26
1789		CRN238	Corneal Dystrophy, Epithelial Basement Membrane	26
1790	c	CRN134	Cornelia De Lange Syndrome 2	26
1791	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	26
1792		CNR005	Cone-Rod Dystrophy 3	26
1793	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	26
1794	c	CHN018	Chondrodysplasia Punctata 2, X-Linked	25
1795		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	25
1796		HYP180	Hypertrichosis Lanuginosa Congenita	25
1797		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	25
1798	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	25
1799	c	BRD050	Bardet-Biedl Syndrome 21	25
1800	c	CCK004	Cockayne Syndrome Type Iii	25
1801		CNG466	Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	25
1802	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	25
1803		CNR003	Cone-Rod Dystrophy 1	25
1804	c	EPD071	Epidermolysis Bullosa Dystrophica, Autosomal Dominant	25
1805	c	OST136	Osteopetrosis, Autosomal Recessive 7	25
1806	c	CRN160	Corneal Dystrophy, Lattice Type Iiia	25
1807		ACT120	Acute Zonal Occult Outer Retinopathy	25
1808		BLD161	Blood Group, Globoside System	24
1809		CRL001	Cerulean Cataract	24
1810		ATY030	Atypical Pantothenate Kinase-Associated Neurodegeneration	24
1811	c	PRX065	Peroxisome Biogenesis Disorder 3a	24
1812	c	PRX091	Peroxisome Biogenesis Disorder 8a	24
1813		VTR018	Vitreoretinal Degeneration, Snowflake Type	24
1814		SRP002	Serpiginous Choroiditis	24
1815		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	24
1816	c	PRX057	Peroxisome Biogenesis Disorder 4a	24
1817	c	KBK003	Kabuki Syndrome 2	24
1818	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	24
1819		CHR252	Chromosome 5p Duplication	24
1820	c	PRX048	Peroxisome Biogenesis Disorder 10a	24
1821	c	PRX046	Peroxisome Biogenesis Disorder 7a	24
1822		EDC001	Edict Syndrome	24
1823	c	SPN286	Spinocerebellar Ataxia 40	24
1824		CRN235	Corneal Dystrophy, Groenouw Type I	24
1825		PLL009	Pellucid Marginal Degeneration	23
1826	c	STS007	Sotos Syndrome 2	23
1827	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	23
1828	c	ATX033	Ataxia-Oculomotor Apraxia 4	23
1829	c	CRN209	Cornelia De Lange Syndrome 5	23
1830	c	OST125	Osteopetrosis, Autosomal Dominant 1	23
1831	c	OST106	Osteopetrosis, Autosomal Recessive 8	23
1832	c	PRX052	Peroxisome Biogenesis Disorder 13a	23
1833	c	BRD021	Bardet-Biedl Syndrome 9	23
1834	c	STR040	Stargardt Disease 3	23
1835		CHR167	Chorioretinal Atrophy, Progressive Bifocal	23
1836	c	SPN323	Spinocerebellar Ataxia 41	23
1837		MCR067	Microcoria, Congenital	23
1838		CGN001	Cogan-Reese Syndrome	23
1839	c	OST120	Osteopetrosis, Autosomal Recessive 5	23
1840	c	PRX043	Peroxisome Biogenesis Disorder 6b	22
1841	c	ANR046	Aniridia 3	22
1842	c	WRD029	Waardenburg Syndrome, Type 2b	22
1843	c	PRX051	Peroxisome Biogenesis Disorder 6a	22
1844	c	OST137	Osteopetrosis, Autosomal Recessive 4	22
1845		MCR315	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	22
1846	c	FRD006	Friedreich Ataxia 2	22
1847	c	LTT008	Lattice Corneal Dystrophy Type Ii	22
1848		GZP003	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1	22
1849	c	PRX050	Peroxisome Biogenesis Disorder 9b	22
1850	c	CRN215	Cornelia De Lange Syndrome 4	22
1851	c	PRX058	Peroxisome Biogenesis Disorder 4b	22
1852		CHR241	Chromosome 2q24 Microdeletion Syndrome	22
1853	c	CRN135	Cornelia De Lange Syndrome 3	22
1854	c	BRD051	Bardet-Biedl Syndrome 20	22
1855	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	22
1856	c	PRX047	Peroxisome Biogenesis Disorder 5b	22
1857	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	22
1858	c	PRX062	Peroxisome Biogenesis Disorder 8b	21
1859	c	SPS198	Spastic Paraplegia 16, X-Linked	21
1860		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	21
1861	c	FML223	Familial Keratoacanthoma	21
1862		NRD031	Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination	21
1863	c	SPN259	Spinocerebellar Ataxia 32	21
1864	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	21
1865		CNR031	Cone-Rod Dystrophy, X-Linked, 1	21
1866	c	WRD022	Waardenburg Syndrome, Type 2d	21
1867		CNR006	Cone-Rod Dystrophy 5	21
1868		PRT015	Partial Third-Nerve Palsy	21
1869	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	21
1870	c	SPN420	Spinocerebellar Ataxia 46	21
1871	c	TRC071	Treacher Collins Syndrome 3	21
1872	c	KRT029	Keratoconus 1	21
1873		SPN117	Spinocerebellar Degeneration and Corneal Dystrophy	21
1874		YHV001	You-Hoover-Fong Syndrome	21
1875		RNG003	Ring Dermoid of Cornea	21
1876	c	SPN419	Spinocerebellar Ataxia 45	20
1877		CTR027	Cataract-Glaucoma	20
1878		RTH002	Rutherfurd Syndrome	20
1879	c	SPN418	Spinocerebellar Ataxia 44	20
1880	c	PRX066	Peroxisome Biogenesis Disorder 3b	20
1881		CLB011	Coloboma of Macula with Type B Brachydactyly	20
1882	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	20
1883	c	SPN102	Spinocerebellar Ataxia 30	20
1884		RRS002	Rare Isolated Myopia	20
1885	c	TRC073	Treacher Collins Syndrome 2	20
1886		SBR011	Subaortic Stenosis--Short Stature Syndrome	20
1887		RDR002	Rodrigues Blindness	20
1888	c	SPS062	Spastic Paraplegia 34, X-Linked	20
1889		MLG070	Malignant Iris Melanoma	19
1890	c	RTH005	Rothmund-Thomson Syndrome Type 2	19
1891		SHR112	Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies	19
1892	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	19
1893	P	PRX064	Peroxisome Biogenesis Disorder 2b	19
1894	c	SPN107	Spinocerebellar Ataxia 9	19
1895		BLP011	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	19
1896		MCR330	Microphthalmia, Isolated, with Cataract 1	18
1897		DRM015	Dermoids of Cornea	18
1898		BRW002	Brown's Tendon Sheath Syndrome	18
1899	c	CRN068	Corneal Endothelial Dystrophy Type 2	18
1900	c	PRX068	Peroxisome Biogenesis Disorder 7b	18
1901	P	NMN012	Niemann-Pick Disease Type C, Juvenile Neurologic Onset	18
1902		CHR171	Choroideremia Hypopituitarism	18
1903		ANR044	Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation	18
1904	c	FRT006	Fourth Cranial Nerve Palsy, Familial Congenital	18
1905		RTN037	Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma	18
1906	c	PRX089	Peroxisome Biogenesis Disorder 10b	18
1907		CLB008	Coloboma of Eye Lens	17
1908	c	STS009	Sotos Syndrome 3	17
1909		BRK013	Birk-Landau-Perez Syndrome	17
1910		RTN104	Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness	17
1911	c	CHR449	Choroidal Dystrophy, Central Areolar 2	17
1912	c	NMN010	Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset	17
1913	c	NMN009	Niemann-Pick Disease Type C, Late Infantile Neurologic Onset	17
1914	c	NMN011	Niemann-Pick Disease Type C, Adult Neurologic Onset	17
1915	c	RTH004	Rothmund-Thomson Syndrome Type 1	17
1916	c	CHR665	Choroidal Dystrophy, Central Areolar, 3	17
1917		CTR154	Cataract, Aberrant Oral Frenula, and Growth Retardation	17
1918		BLP042	Blepharoptosis, Myopia, and Ectopia Lentis	17
1919	c	SPN421	Spinocerebellar Ataxia 47	17
1920	c	WRD026	Waardenburg Syndrome, Type 2c	17
1921		RTN211	Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract	17
1922		LCR012	Lacrimal System Cancer	17
1923		DYS181	Dyssegmental Dysplasia with Glaucoma	17
1924		AMR007	Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis	17
1925	c	SPN336	Spinocerebellar Ataxia Type 16	17
1926	c	STR054	Stargardt Disease 4	16
1927	c	KRT073	Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	16
1928		ISL067	Isolated Congenital Megalocornea	16
1929		MCR242	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	16
1930		CTR151	Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	15
1931		MCR070	Microcornea, Glaucoma, and Absent Frontal Sinuses	15
1932		CNR039	Cone-Rod Dystrophy, X-Linked, 2	15
1933		CNG457	Congenital Oculomotor Nerve Palsy	15
1934	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	15
1935		PTS017	Ptosis, Strabismus, and Ectopic Pupils	15
1936	c	KRT053	Keratoconus 7	15
1937		MLG062	Malignant Ciliary Body Melanoma	14
1938	c	CHN017	Chondrodysplasia Punctata 1, X-Linked	14
1939		PSD101	Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa	14
1940	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	14
1941		ACT235	Acute Macular Neuroretinopathy	14
1942	c	PSD023	Pseudo-Gaucher Disease	14
1943	c	TYS005	Tay-Sachs Disease, B1 Variant	14
1944		CLB032	Coloboma of Macula and Skeletal Anomalies	14
1945	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	14
1946	c	KRT050	Keratoconus 5	14
1947		GLC088	Glaucoma and Sleep Apnea	14
1948		MLG061	Malignant Choroid Melanoma	13
1949		CNG508	Congenital Corneal Opacities, Cornea Guttata, and Corectopia	13
1950		NRS002	Neuroaspergillosis	13
1951		LGH017	Leigh Syndrome with Nephrotic Syndrome	13
1952	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	12
1953	c	KRT052	Keratoconus 6	12
1954	c	KRT054	Keratoconus 8	12
1955		CNG362	Congenital Trochlear Nerve Palsy	12
1956		MCR069	Microcornea Corectopia Macular Hypoplasia	12
1957	c	ACQ026	Acquired Pseudoxanthoma Elasticum	12
1958		CLR122	Ciliary Body Cancer	12
1959		NRV002	Nerve Fibre Bundle Defect	11
1960	c	MLN039	Melanoma, Uveal 1	11
1961		TTL002	Total Third-Nerve Palsy	10
1962	c	KRT075	Keratoconus 9	10
1963	c	MLN041	Melanoma, Uveal 2	10
1964	c	GRN044	Granulomatous Disease, Chronic, Autosomal Dominant Type	10
1965	c	KRT040	Keratoconus 3	10
1966	c	KRT039	Keratoconus 2	10
1967	c	KRT041	Keratoconus 4	10
1968		CHR045	Choroid Necrotic Melanoma	9
1969	c	HLL012	Hallermann-Streiff-Like Syndrome	9
1970		NCR008	Necrotic Uveal Melanoma	9
1971		CNJ005	Conjunctival Vascular Disease	9
1972		LCR005	Lacrimal Duct Cancer	9
1973	c	CLC009	Clcn7-Related Osteopetrosis	9
1974	c	GRD008	Grid2-Related Spinocerebellar Ataxia	9
1975		RCR030	Recurrent Idiopathic Neuroretinitis	9
1976	c	TYS006	Tay-Sachs Disease, B Variant, Adult Form	8
1977		NBL002	Noble Bass Sherman Syndrome	8
1978		CHR011	Choroid Spindle Cell Melanoma	8
1979		CLR002	Ciliary Body Spindle Cell Melanoma	8
1980		MXD040	Mixed Cell Uveal Melanoma	8
1981		CHR448	Choroid Mixed Cell Melanoma	8
1982		MLG052	Malignant Cornea Melanoma	8
1983	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	8
1984	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	8
1985		OLG018	Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies	8
1986		OLG019	Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies	8
1987		CNG458	Congenital Abducens Nerve Palsy	7
1988		IRS001	Iris Spindle Cell Melanoma	7
1989		ORB004	Orbital Osteomyelitis	7
1990	c	GM2001	Gm2 Gangliosidosis, 0 Variant	7
1991		CHR002	Chronic Lacrimal Gland Enlargement	7
1992		UVL002	Uveal Epithelioid Cell Melanoma	6
1993		CHR014	Choroid Epithelioid Cell Melanoma	6
1994		PRL002	Prolapse of Lacrimal Gland	6
1995		SRS003	Serous Conjunctivitis Except Viral	6
1996		DPC001	Deep Corneal Vascularisation	6
1997	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	6
1998		ERL041	Early-Onset Zonular Cataract	6
1999		EXT057	Extensive Peripapillary Myelinated Nerve Fibers	6
2000		NRT003	Neurotrophic Keratoconjunctivitis	6
2001		CLR008	Ciliary Body Mixed Cell Melanoma	6
2002		IRS002	Iris Mixed Cell Melanoma	6
2003		INT023	Intermediate Cell Type Ciliary Body Melanoma	6
2004		CLR004	Ciliary Body Epithelioid Cell Melanoma	6
2005		PRM142	Primary Oculocerebral Lymphoma	5
2006	c	OCL037	Oculodentodigital Dysplasia Dominant	5
2007	c	MRN006	Marinesco-Sjogren-Like Syndrome	5
2008		NRG007	Neurogenic Palpebral Tumor	4
2009	P	RTN024	Retinoblastoma	70
2010		VNH007	Von Hippel-Lindau Syndrome	69
2011		ABL002	Ablepharon-Macrostomia Syndrome	54
2012		MRC002	Marcus Gunn Phenomenon	50
2013	P	MCR241	Microphthalmia, Syndromic 3	38
2014	c	MCR251	Microphthalmia, Syndromic 6	30
2015	c	MCR262	Microphthalmia, Syndromic 4	23
2016	c	MCR312	Microphthalmi