Eye Diseases Category (3148 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	55
3	c	OPT068	Optic Atrophy 3, Autosomal Dominant	35
4		LBR002	Leber Hereditary Optic Neuropathy	58
5	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	62
6	c	3MT015	3-Methylglutaconic Aciduria, Type I	48
7	c	3MT014	3-Methylglutaconic Aciduria, Type V	46
8	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	36
9	P	3MT007	3-Methylglutaconic Aciduria	33
10	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	30
11	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	23
12		LBR031	Leber Optic Atrophy and Dystonia	45
13		OPT066	Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy	31
14		NNR004	Nonarteritic Anterior Ischemic Optic Neuropathy	56
15	c	ATS069	Autosomal Dominant Optic Atrophy Plus Syndrome	27
16		CLB003	Coloboma of Optic Nerve	44
17		OPT006	Optic Nerve Disease	60
18		CLR033	Color Vision Deficiency	42
19		SPT006	Septooptic Dysplasia	54
20		SPT019	Septo-Optic Dysplasia Spectrum	27
21	c	FVL008	Foveal Hypoplasia 2	24
22	c	OPT023	Optic Atrophy 2	22
23		CRB058	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss	22
24	P	OPT070	Optic Nerve Hypoplasia, Bilateral	48
25	c	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	47
26	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	40
27	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	39
28	P	XLN110	X-Linked Charcot-Marie-Tooth Disease	36
29	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	27
30	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	26
31		OPT001	Optic Disk Drusen	40
32		EYL005	Eyelid Disease	40
33	c	MCR124	Microphthalmia, Isolated 1	37
34	P	MCR122	Microphthalmia, Isolated 5	33
35	c	MCR137	Microphthalmia, Isolated 2	25
36	c	MCR114	Microphthalmia, Isolated 3	23
37	c	MCR109	Microphthalmia, Isolated 4	23
38	c	MCR219	Microphthalmia, Isolated 8	22
39	c	MCR108	Microphthalmia, Isolated 7	18
40		OPT074	Optic Atrophy 7 with or Without Auditory Neuropathy	24
41	P	LBR001	Leber Congenital Amaurosis	65
42		LBR030	Leber Optic Atrophy	41
43		SCH038	Schopf-Schulz-Passarge Syndrome	36
44		BHR001	Behr Syndrome	40
45		TRC055	Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina	15
46	c	MCL042	Macular Degeneration, Age-Related, 1	83
47	P	CLB034	Coloboma, Ocular, Autosomal Dominant	46
48	c	BLP048	Blepharospasm, Benign Essential	39
49	P	PHS005	Peho Syndrome	37
50	c	MCL043	Macular Degeneration, Age-Related, 2	29
51		SHR058	Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly	29
52	c	MCL078	Macular Degeneration, Age-Related, 14	28
53	c	MCL038	Macular Degeneration, Age-Related, 4	23
54	c	MCL030	Macular Degeneration, Age-Related, 10	22
55	c	MCL051	Macular Degeneration, Age-Related, 12	21
56	P	MCL058	Macular Degeneration, Early-Onset	20
57	c	MCL077	Macular Degeneration, Age-Related, 5	20
58	c	MCL041	Macular Degeneration, Age-Related, 7	19
59	c	MCL036	Macular Degeneration, Age-Related, 6	18
60	c	MCL044	Macular Degeneration, Age-Related, 9	18
61	c	MCL032	Macular Degeneration, Age-Related, 11	16
62	c	OPT071	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive	16
63	c	MCL065	Macular Degeneration, Age-Related, 15	15
64	P	AGN002	Agnosia	61
65	P	OPT009	Optic Neuritis	55
66		BSC005	Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	33
67		SPS061	Spastic Paraplegia, Optic Atrophy, and Neuropathy	32
68		CRB159	Cerebral Visual Impairment	29
69	c	OPT064	Optic Atrophy 11	24
70	c	FRM002	Form Agnosia	16
71	P	NRM001	Neuromyelitis Optica	64
72		RTN209	Retinoschisis 1, X-Linked, Juvenile	57
73	c	NRM008	Neuromyelitis Optica Spectrum Disorder	34
74		EYL006	Eyelid Benign Neoplasm	29
75	c	OPT024	Optic Atrophy 5	24
76		ICH066	Ichthyosis--Cheek--Eyebrow Syndrome	18
77		OPT005	Optic Nerve Astrocytoma	11
78	P	RTN008	Retinitis Pigmentosa	80
79	c	CNR004	Cone-Rod Dystrophy 2	63
80		RTN017	Retinal Detachment	61
81	P	USH001	Usher Syndrome	58
82		BTT001	Bietti Crystalline Corneoretinal Dystrophy	48
83	c	USH035	Usher Syndrome Type 2	46
84		BLC001	Blue Cone Monochromacy	46
85	c	USH021	Usher Syndrome, Type Iid	46
86		TRT020	Tritanopia	45
87	c	CNR023	Cone-Rod Dystrophy 8	38
88	c	CNR003	Cone-Rod Dystrophy 1	37
89	c	USH041	Usher Syndrome, Type if	37
90	c	USH042	Usher Syndrome, Type Ig	36
91	c	RTN051	Retinitis Pigmentosa 22	34
92	c	NNS043	Nonsyndromic Retinitis Pigmentosa	33
93	c	RTN068	Retinitis Pigmentosa 6	31
94	c	RTN057	Retinitis Pigmentosa 29	30
95	c	USH031	Usher Syndrome, Type Ij	30
96	c	USH030	Usher Syndrome, Type Ik	29
97	c	RTN053	Retinitis Pigmentosa 24	27
98	c	RTN148	Retinitis Pigmentosa 63	21
99	c	RTN206	Retinitis Pigmentosa, Late-Adult Onset	21
100	c	CNR027	Cone-Rod Dystrophy 17	21
101	c	USH045	Usher Syndrome, Type Iv	20
102	c	USH043	Usher Syndrome, Type Ih	20
103	c	RTN061	Retinitis Pigmentosa 32	19
104	c	RTN063	Retinitis Pigmentosa 34	19
105	c	RTN219	Retinitis Pigmentosa 85	17
106	c	USH011	Usher Syndrome, Type 2b	13
107		KRN002	Kearns-Sayre Syndrome	63
108		CHS002	Chiasmal Syndrome	36
109		ADT008	Auditory Neuropathy and Optic Atrophy	22
110		CRB165	Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation	22
111		OPT058	Optic Disc Anomalies with Retinal and/or Macular Dystrophy	19
112		FLC002	Fleck Retina, Familial Benign	19
113		OCL031	Oculo-Cerebral Dysplasia	13
114		BRK005	Berk-Tabatznik Syndrome	9
115	P	ANR048	Aniridia 1	64
116		RTN018	Retinal Disease	58
117	P	RTN016	Retinal Degeneration	56
118		CHR081	Choroideremia	54
119	P	CLR019	Color Blindness	49
120		ISC002	Ischemic Optic Neuropathy	48
121	c	LTN004	Late-Onset Retinal Degeneration	46
122		VSL003	Visual Agnosia	40
123		ALN001	Aland Island Eye Disease	40
124		VSL002	Visual Epilepsy	37
125		CRB189	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss	28
126		DYS187	Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities	24
127	c	OPT065	Optic Atrophy 9	24
128		VSL004	Visual Cortex Disease	23
129		OPT062	Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures	19
130		CHL024	Childhood Optic Nerve Glioma	19
131		VSL012	Visual Snow Syndrome	16
132		EYB005	Eyebrows, Duplication of, with Stretchable Skin and Syndactyly	14
133		HYP742	Hyperpigmentation of Eyelids	12
134		SHR049	Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome	11
135		VNS001	Venous Tributary Occlusion of Retina	8
136		BLT005	Bilateral Meningioma of Optic Nerve	8
137		CHL023	Childhood Optic Tract Astrocytoma	7
138	c	PX6002	Pax6-Related Aniridia	6
139	P	ENC018	Encephalopathy	65
140	P	WLF004	Wolfram Syndrome	60
141	c	WLF013	Wolfram Syndrome 1	55
142		CLB010	Coloboma of Macula	54
143		BRD025	Birdshot Chorioretinopathy	48
144	c	WRB002	Warburg Micro Syndrome 1	44
145		SCT002	Scotoma	41
146		TRC077	Trichomegaly	40
147		DYN002	Doyne Honeycomb Retinal Dystrophy	39
148	P	SPS008	Spastic Ataxia	37
149	c	WRB003	Warburg Micro Syndrome 2	36
150	P	HRD022	Hordeolum	35
151	P	WRB001	Warburg Micro Syndrome	32
152		OPT002	Optic Nerve Sheath Meningioma	32
153		CVT001	Cavitary Optic Disc Anomalies	30
154	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	30
155		OPT032	Optic Pathway Glioma	29
156	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	28
157	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
158	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	26
159	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	25
160	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	24
161	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	22
162	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	21
163		SPL058	Splenomegaly, Cytopenia, and Vision Loss	15
164	c	INT047	Internal Hordeolum	14
165	c	SPS171	Spastic Ataxia 5	11
166	c	SPS214	Spastic Ataxia 4	11
167	c	SPS162	Spastic Ataxia 1	10
168	c	SPS163	Spastic Ataxia 3	10
169	c	SPS170	Spastic Ataxia 2	9
170	c	SPS229	Spastic Ataxia 8	8
171	c	SPS172	Spastic Ataxia 7	8
172	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	7
173	P	MYP006	Myopia	59
174		AST006	Astigmatism	50
175	c	MYP127	Myopia 2, Autosomal Dominant	22
176	c	MYP138	Myopia 3, Autosomal Dominant	21
177		MTC145	Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy	21
178	c	MYP140	Myopia 17, Autosomal Dominant	20
179	c	MYP141	Myopia 5, Autosomal Dominant	19
180	c	MYP144	Myopia 12, Autosomal Dominant	18
181	c	MYP146	Myopia 15, Autosomal Dominant	18
182		VSL013	Visual Impairment and Progressive Phthisis Bulbi	17
183	c	MYP044	Myopia 10	17
184	c	MYP133	Myopia 18, Autosomal Recessive	17
185	c	MYP147	Myopia 19, Autosomal Dominant	16
186	c	MYP041	Myopia 8	15
187	c	MYP040	Myopia 7	15
188	c	MYP048	Myopia 9	15
189	c	MYP145	Myopia 16, Autosomal Dominant	15
190	c	MYP143	Myopia 11, Autosomal Dominant	15
191	c	MYP069	Myopia 14	14
192		BNC002	Binocular Vision Disease	13
193	c	MYP084	Myopia 20, Autosomal Dominant	12
194		ALL005	Allergic Contact Dermatitis of Eyelid	8
195		MCR013	Microphthalmia	60
196	P	CTR002	Cataract	59
197		SRS007	Sorsby Fundus Dystrophy	49
198		PPL021	Papilledema	48
199		BLP046	Blepharophimosis, Ptosis, and Epicanthus Inversus	46
200	c	USH038	Usher Syndrome, Type Iiia	44
201	P	VTL001	Vitelliform Macular Dystrophy	43
202	c	CTR130	Cataract 9, Multiple Types	41
203		OPT010	Optic Papillitis	39
204		INT323	Intraocular Pressure Quantitative Trait Locus	38
205		CRN106	Corneal Dystrophy, Gelatinous Drop-Like	38
206	c	CTR103	Cataract 4, Multiple Types	37
207	c	CTR170	Cataract 30, Multiple Types	36
208	c	CTR115	Cataract 16, Multiple Types	35
209	c	CTR141	Cataract 21, Multiple Types	35
210	c	CTR122	Cataract 5, Multiple Types	35
211		OCC002	Occult Macular Dystrophy	34
212		EYL002	Eyelid Carcinoma	34
213	c	CTR125	Cataract 7	33
214		FST001	Foster-Kennedy Syndrome	33
215	c	CTR145	Cataract 44	33
216	c	CTR102	Cataract 2, Multiple Types	33
217	c	CTR132	Cataract 3, Multiple Types	32
218	P	ATM076	Autoimmune Retinopathy	32
219	c	CTR158	Cataract 37	31
220	c	CTR129	Cataract 31, Multiple Types	30
221	c	CTR095	Cataract 8, Multiple Types	30
222	c	CTR113	Cataract 11, Multiple Types	28
223	c	CTR175	Cataract 24	27
224	c	CTR169	Cataract 29	25
225	c	CTR166	Cataract 33, Multiple Types	25
226	c	CTR116	Cataract 15, Multiple Types	25
227	c	CTR131	Cataract 17, Multiple Types	24
228	c	CTR181	Cataract 18	24
229	c	CTR162	Cataract 47	24
230		VSL005	Visual Pathway Disease	23
231		ACT201	Acute Posterior Multifocal Placoid Pigment Epitheliopathy	23
232	c	CTR180	Cataract 22, Multiple Types	23
233	c	CTR165	Cataract 19, Multiple Types	23
234	c	CTR119	Cataract 32, Multiple Types	23
235	c	CTR105	Cataract 12, Multiple Types	23
236		CMB069	Combined Hamartoma of the Retina and Retinal Pigment Epithelium	22
237	c	CTR184	Cataract 39, Multiple Types	22
238		SHR097	Short Tarsus with Absence of Lower Eyelashes	21
239	c	OPT025	Optic Atrophy 6	21
240	c	CTR097	Cataract 34, Multiple Types	21
241	c	CTR111	Cataract 36	21
242	c	CTR183	Cataract 38	20
243	c	CTR159	Cataract 35	20
244	c	CTR185	Cataract 30	20
245	c	CTR106	Cataract 20, Multiple Types	19
246	c	CTR163	Cataract 46, Juvenile-Onset	19
247	c	CTR121	Cataract 25	19
248		RTN123	Retinochoroidal Coloboma	19
249	c	CTR110	Cataract 26, Multiple Types	19
250	c	CTR144	Cataract 43	18
251	c	CTR139	Cataract 42	18
252	c	CTR157	Cataract 28	18
253	c	CTR160	Cataract 45	18
254	c	CTR178	Cataract 27	17
255		BLN017	Balint Syndrome	17
256		MLN018	Moloney Syndrome	17
257	c	CTR025	Cataract, Total Congenital	17
258	c	OPT059	Optic Atrophy 4	16
259	c	CTR187	Cataract 48	16
260	c	ACQ001	Acquired Color Blindness	15
261	c	CTR128	Cataract 33	14
262		FLC004	Fleck Retina of Kandori	12
263		CHR675	Chronic Relapsing Inflammatory Optic Neuropathy	12
264		MLG010	Malignant Eyelid Melanoma	11
265		CNG395	Congenital Retinal Arteriovenous Communication	11
266		GLC005	Glaucomatous Atrophy of Optic Disc	9
267		ATS326	Autosomal Recessive Isolated Optic Atrophy	9
268		ATM073	Autoimmune-Related Retinopathy and Optic Neuropathy	9
269		NNN006	Noninfectious Dermatoses of Eyelid	8
270	c	CTR008	Cataract Congenital Autosomal Dominant	8
271		ANT020	Anterior Optic Tract Meningioma	8
272	c	NDP001	Ndp-Related Retinopathies	6
273		PRS018	Parasitic Eyelid Infestation	6
274		INF155	Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	6
275		CRT010	Crater-Like Holes of Optic Disc	6
276		CLB012	Coloboma of Optic Papilla	3
277		FND001	Fundus Albipunctatus	57
278	P	ACH003	Achromatopsia	57
279	c	ALB009	Albinism, Oculocutaneous, Type Ia	54
280	c	ALB021	Albinism, Oculocutaneous, Type Ii	53
281	c	ALB020	Albinism, Oculocutaneous, Type Iii	51
282		OCL052	Ocular Dominance	48
283	c	ALB010	Albinism, Oculocutaneous, Type Ib	47
284	c	LBR004	Leber Congenital Amaurosis 1	46
285	c	ALB015	Albinism, Oculocutaneous, Type V	46
286		KLV001	Kluver-Bucy Syndrome	44
287	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	43
288	P	PNT019	Pontocerebellar Hypoplasia	43
289	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	42
290	c	ACH020	Achromatopsia 2	41
291	c	PNT036	Pontocerebellar Hypoplasia, Type 6	41
292	c	PNT010	Pontocerebellar Hypoplasia Type 1	40
293	c	PNT037	Pontocerebellar Hypoplasia, Type 3	40
294	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	39
295	c	MCL060	Macular Dystrophy, Vitelliform, 3	38
296	c	LBR012	Leber Congenital Amaurosis 2	38
297	P	CRN233	Corneal Dystrophy, Fuchs Endothelial, 1	37
298		VTR010	Vitreoretinochoroidopathy	35
299	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	35
300		ART110	Arteritic Anterior Ischemic Optic Neuropathy	35
301	P	BST001	Bestrophinopathy	34
302	c	PNT043	Pontocerebellar Hypoplasia, Type 4	33
303	c	BST008	Bestrophinopathy, Autosomal Recessive	33
304	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	33
305		3MC001	3mc Syndrome 2	32
306	c	PNT046	Pontocerebellar Hypoplasia, Type 5	30
307	c	PNT032	Pontocerebellar Hypoplasia, Type 9	30
308	c	PNT033	Pontocerebellar Hypoplasia, Type 10	30
309	c	RTN036	Retinal Cone Dystrophy 4	29
310	c	RTN032	Retinal Cone Dystrophy 1	28
311	c	PNT039	Pontocerebellar Hypoplasia, Type 7	28
312	c	RTN035	Retinal Cone Dystrophy 3b	28
313		MNT006	Manitoba Oculotrichoanal Syndrome	27
314	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	27
315	c	PNT050	Pontocerebellar Hypoplasia, Type 11	26
316	c	CND012	Cone Dystrophy 4	26
317	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	26
318		XLN012	X-Linked Congenital Stationary Night Blindness	25
319	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	23
320	c	CRN242	Corneal Dystrophy, Fuchs Endothelial, 2	23
321	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	23
322		HRL006	Harel-Yoon Syndrome	22
323		CMB047	Combined Oxidative Phosphorylation Deficiency 18	21
324	c	OPT060	Optic Atrophy 8	21
325		ENC048	Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy	21
326	c	PNT052	Pontocerebellar Hypoplasia, Type 12	21
327	c	CRN121	Corneal Dystrophy, Fuchs Endothelial, 5	18
328	c	CRN122	Corneal Dystrophy, Fuchs Endothelial, 7	17
329		NTR002	Nutritional Optic Neuropathy	17
330		ULR001	Ulerythema Ophryogenesis	14
331	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	12
332	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	7
333	P	STR022	Stargardt Disease	58
334	c	GLC092	Glaucoma, Primary Open Angle	57
335		OCL006	Ocular Hypertension	56
336	P	PTS002	Ptosis	55
337	c	STR084	Stargardt Disease 1	54
338	P	KRT007	Keratoconus	50
339		GLC098	Glaucoma-Related Pigment Dispersion Syndrome	50
340		MCL075	Macular Dystrophy, Corneal	49
341		RFR003	Refractive Error	46
342	P	OCL001	Ocular Albinism	45
343	c	RTN150	Retinitis Pigmentosa 10	45
344		OCL011	Ocular Motility Disease	45
345	P	CND005	Cone Dystrophy	45
346		ECT005	Ectropion	45
347	c	NGH026	Night Blindness, Congenital Stationary, Type 1a	43
348	c	LBR019	Leber Congenital Amaurosis 9	42
349		3MC003	3mc Syndrome	40
350	c	KNB006	Knobloch Syndrome 1	39
351		CRN237	Corneal Dystrophy, Avellino Type	39
352		DST033	Distichiasis	37
353	c	CNG513	Congenital Ptosis	37
354		MCL069	Macular Dystrophy, Retinal, 1, North Carolina Type	36
355	c	CNR014	Cone-Rod Dystrophy 16	35
356	P	CNR031	Cone-Rod Dystrophy, X-Linked, 1	33
357	c	GLC041	Glaucoma 1, Open Angle, a	33
358	c	MCR211	Microphthalmia, Isolated 6	33
359	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	32
360		PSD008	Pseudopapilledema	31
361		SPN348	Spondylometaphyseal Dysplasia, Axial	31
362	c	CNR038	Cone-Rod Dystrophy, X-Linked, 3	31
363	c	ANR047	Aniridia 2	31
364	c	LBR016	Leber Congenital Amaurosis 6	31
365	c	LBR018	Leber Congenital Amaurosis 8	31
366	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	31
367	c	NGH029	Night Blindness, Congenital Stationary, Type 1e	29
368	c	MCL059	Macular Dystrophy, Patterned, 1	29
369	P	KNB001	Knobloch Syndrome	29
370	c	CNR039	Cone-Rod Dystrophy, X-Linked, 2	28
371	c	RTN140	Retinitis Pigmentosa 67	28
372	c	MCL070	Macular Dystrophy, Patterned, 3	28
373		AMT001	Ametropic Amblyopia	28
374		WGN003	Wagner Syndrome	27
375		IRD003	Iridocorneal Endothelial Syndrome	27
376	c	LBR008	Leber Congenital Amaurosis 13	27
377	c	NGH010	Night Blindness, Congenital Stationary, Autosomal Dominant 2	26
378		WGN007	Wagner Vitreoretinopathy	26
379	c	PHL010	Peho-Like Syndrome	26
380	c	KRT029	Keratoconus 1	25
381	c	NGH027	Night Blindness, Congenital Stationary, Type 1c	24
382	c	OGC001	Oguchi Disease 1	24
383		OCL016	Ocular Albinism, X-Linked	24
384	c	NGH030	Night Blindness, Congenital Stationary, Type 1f	23
385	c	RTN166	Retinitis Pigmentosa 69	23
386	c	MCL071	Macular Dystrophy, Patterned, 2	22
387	c	NGH008	Night Blindness, Congenital Stationary, Autosomal Dominant 3	21
388	c	NGH022	Night Blindness, Congenital Stationary, Type 1g	21
389	P	PTT054	Patterned Macular Dystrophy	21
390	c	NGH021	Night Blindness, Congenital Stationary, Autosomal Dominant 1	20
391	c	MCL056	Macular Dystrophy, Vitelliform, 5	20
392	c	PTS010	Ptosis, Hereditary Congenital 2	19
393	c	STR054	Stargardt Disease 4	19
394	c	MCL061	Macular Dystrophy, Vitelliform, 4	19
395	c	OGC002	Oguchi Disease 2	18
396	c	GLC079	Glaucoma 1, Open Angle, P	17
397	c	PTS018	Ptosis, Hereditary Congenital 1	16
398		ANP019	Anophthalmos with Limb Anomalies	16
399	c	KRT052	Keratoconus 6	15
400		JVN026	Jeavons Syndrome	15
401		GRP007	Grouped Pigmentation of the Retina	15
402	c	KRT050	Keratoconus 5	14
403	c	KRT053	Keratoconus 7	14
404	c	GLC048	Glaucoma 1, Open Angle, I	14
405	c	KRT039	Keratoconus 2	13
406	c	KRT040	Keratoconus 3	13
407	c	KRT054	Keratoconus 8	13
408	c	KRT041	Keratoconus 4	13
409		HYP046	Hypopigmentation of Eyelid	9
410		LPS006	Lopes Gorlin Syndrome	7
411	P	CNJ013	Conjunctivitis	65
412	c	MCL062	Mucolipidosis Ii Alpha/beta	64
413		VTR013	Vitreoretinopathy, Neovascular Inflammatory	61
414	P	FCS002	Fucosidosis	59
415	c	MCL013	Mucolipidosis Iv	58
416	c	MCL046	Mucolipidosis Iii Alpha/beta	56
417		CTS003	Coats Disease	54
418		FDB001	Foodborne Botulism	53
419		INT303	Intracranial Hypertension, Idiopathic	52
420	c	RTN162	Retinitis Pigmentosa 2	51
421	P	PNV001	Panuveitis	51
422	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	49
423		FCH001	Fuchs' Endothelial Dystrophy	49
424		AMB002	Amblyopia	49
425		PRS012	Pars Planitis	48
426	c	FRS014	Fraser Syndrome 1	48
427		KHN001	Kuhnt-Junius Degeneration	48
428		ALB002	Albinism	48
429	c	CHR095	Chronic Progressive External Ophthalmoplegia	47
430	P	DNR001	Duane Retraction Syndrome	46
431	P	MCL001	Mucolipidosis	45
432		SCH076	Schnyder Corneal Dystrophy	44
433		CRN286	Corneal Dystrophy, Meesmann	43
434	c	RTN058	Retinitis Pigmentosa 3	43
435	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	43
436	P	BLP003	Blepharospasm	43
437		CRN241	Corneal Dystrophy, Congenital Stromal	43
438	c	MCL016	Mucolipidosis Iii Gamma	42
439	c	FBR046	Fibrosis of Extraocular Muscles, Congenital, 1	42
440	P	KLF001	Kleefstra Syndrome	42
441		JLL001	Jalili Syndrome	40
442	c	DNR003	Duane Retraction Syndrome 1	40
443	c	RTN069	Retinitis Pigmentosa 7	40
444	c	CHR086	Chronic Conjunctivitis	39
445		LGN005	Ligneous Conjunctivitis	39
446	c	ATM100	Autoimmune Optic Neuritis	39
447		PRR004	Preretinal Fibrosis	39
448	c	RTN041	Retinitis Pigmentosa 11	39
449	P	OGC005	Oguchi Disease	39
450		BST007	Best Vitelliform Macular Dystrophy	38
451	c	WLF009	Wolfram Syndrome 2	35
452	c	LBR005	Leber Congenital Amaurosis 10	34
453		ISL119	Isolated Optic Neuritis	34
454	c	CRN236	Corneal Dystrophy, Lattice Type I	33
455	c	KLF004	Kleefstra Syndrome 1	33
456	c	ACH023	Achromatopsia 4	32
457		DGN003	Degeneration of Macula and Posterior Pole	32
458	c	RTN070	Retinitis Pigmentosa 9	32
459	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	32
460		BCH003	Boucher-Neuhauser Syndrome	31
461	P	LTT001	Lattice Corneal Dystrophy	31
462		MCL079	Macular Telangiectasia Type 2	31
463	c	BCT006	Bacterial Conjunctivitis	30
464	c	LBR015	Leber Congenital Amaurosis 5	30
465		PRP026	Peripheral Retinal Degeneration	29
466	c	ACT067	Acute Conjunctivitis	28
467		ANK013	Ankyloblepharon Filiforme Adnatum and Cleft Palate	28
468		SML010	Simultanagnosia	28
469	P	RTN034	Retinal Cone Dystrophy 3a	28
470	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	28
471		3MC002	3mc Syndrome 1	27
472	c	USH044	Usher Syndrome, Type Iiib	26
473		CHR158	Charles Bonnet Syndrome	26
474	c	EXD004	Exudative Vitreoretinopathy 4	26
475	c	FBR050	Fibrosis of Extraocular Muscles, Congenital, 2	25
476	P	FVL006	Foveal Hypoplasia 1	25
477		TXC008	Toxic Optic Neuropathy	25
478		MYP086	Myopathy with Extrapyramidal Signs	24
479	c	NGH028	Night Blindness, Congenital Stationary, Type 1d	23
480	c	RTN217	Retinitis Pigmentosa 83	23
481	c	LTT008	Lattice Corneal Dystrophy Type Ii	23
482	c	ACH038	Achromatopsia 7	23
483	c	EXD010	Exudative Vitreoretinopathy 6	22
484		MCL057	Macular Dystrophy with Central Cone Involvement	22
485	c	CLB022	Coloboma, Ocular, Autosomal Recessive	22
486	c	MYP018	Myopia 6	22
487	c	EXD006	Exudative Vitreoretinopathy 5	22
488	c	MCL073	Macular Dystrophy, Vitelliform, 1	22
489	c	MCL052	Macular Degeneration, Age-Related, 13	22
490	P	PRM016	Primary Optic Atrophy	22
491	c	NGH024	Night Blindness, Congenital Stationary, Type 1h	21
492	c	EXD012	Exudative Vitreoretinopathy 7	20
493	c	LBR006	Leber Congenital Amaurosis 11	20
494	c	CRN306	Corneal Dystrophy, Posterior Polymorphous, 4	20
495	c	KLF005	Kleefstra Syndrome 2	20
496	c	FRS016	Fraser Syndrome 2	19
497	c	MYP074	Myopia 23, Autosomal Recessive	19
498		CLB018	Coloboma of Eyelid	19
499	c	LBR017	Leber Congenital Amaurosis 7	19
500	c	FRS015	Fraser Syndrome 3	19
501	P	TXC009	Toxic Maculopathy	19
502		SPN033	Spontaneous Ocular Nystagmus	19
503	c	MYP070	Myopia 21, Autosomal Dominant	18
504		APR010	Apraxia of Eyelid Opening	18
505		OPT077	Optic Disc Pit	17
506	c	FBR078	Fibrosis of Extraocular Muscles, Congenital, 5	17
507	c	MYP090	Myopia 24, Autosomal Dominant	16
508	c	MYP075	Myopia 22, Autosomal Dominant	16
509		INT334	Intellectual Developmental Disorder and Retinitis Pigmentosa	16
510	c	MYP117	Myopia 25, Autosomal Dominant	15
511		WLF014	Wolfram Syndrome, Mitochondrial Form	15
512	P	FBR081	Fibrosis of Extraocular Muscles, Congenital, 3c	15
513		VSP001	Vasoproliferative Tumor of the Retina	15
514		MYP135	Myopia 26, X-Linked, Female-Limited	14
515	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	14
516		MTP036	Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy	14
517		PSD005	Pseudoretinitis Pigmentosa	14
518		SPT020	Spatial Visualization, Aptitude for	13
519	P	FRS017	Fraser-Like Syndrome	13
520		MNT316	Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature	12
521		BLS004	Blessig's Cysts	11
522		CHL133	Cholestasis with Gallstone, Ataxia, and Visual Disturbance	11
523		NRP050	Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance	10
524		OPT072	Opticocochleodentate Degeneration	10
525	P	OPT029	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant	10
526		TNT001	Tented Eyebrows	10
527		VSL001	Visual Verbal Agnosia	10
528		SPS217	Spastic Paraplegia, Optic Atrophy, and Dementia	10
529	c	FCS008	Fucosidosis Type 1	10
530		FRD011	Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness	9
531		OPT067	Optic Atrophy with Demyelinating Disease of Cns	9
532		OPT069	Optic Atrophy with Negative Electroretinograms	9
533		OPT073	Optic Atrophy--Spastic Paraplegia Syndrome	9
534		ALZ038	Alezzandrini Syndrome	9
535		HLR003	Hole Retinal Cyst	9
536		LTT009	Lattice Degeneration of Retina Leading to Retinal Detachment	9
537		RTN005	Retinal Lattice Degeneration	9
538		IDP087	Idiopathic Optic Perineuritis	9
539		MYL068	Myelinated Optic Nerve Fibers	9
540		PRT024	Partial Optic Atrophy	8
541		CBB001	Cobblestone Retinal Degeneration	8
542	P	TTL001	Total Internal Ophthalmoplegia	8
543		ALG004	Al Gazali Khidr Prem Chandran Syndrome	8
544		PGN001	Pagon Stephan Syndrome	7
545		TRS032	Tristichiasis	7
546		CYS012	Cystoid Macular Retinal Degeneration	7
547	c	INF151	Infectious Panuveitis	7
548		SNL002	Senile Reticular Retinal Degeneration	7
549		CNG355	Congenital Eyelid Retraction	7
550		XRD002	Xeroderma of Eyelid	7
551		ECZ001	Eczematous Dermatitis of Eyelid	7
552		EYB006	Eyebrow, Whorl in	6
553		CLB023	Coloboma of Inferior Eyelid	6
554		XLN221	X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome	6
555		PRP004	Peripheral Scars of Retina	6
556		CLB024	Coloboma of Superior Eyelid	6
557	c	TXC018	Toxic Maculopathy Due to Antimalarial Drugs	6
558		EYL004	Eyelid Degenerative Disease	6
559		DSC002	Discoid Lupus Erythematosus of Eyelid	5
560		HYP044	Hypotrichosis of Eyelid	5
561		HYP045	Hypertrichosis of Eyelid	5
562		ATS077	Autosomal Dominant Optic Atrophy and Peripheral Neuropathy	5
563		SPS224	Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal	5
564		SLN003	Silengo Lerone Pelizza Syndrome	5
565		RTN076	Retinopathy, Arteriosclerotic	4
566		ECC013	Eccrine Syringofibroadenomatosis with Eyelid Abnormalities	4
567		VSL006	Visual Pathway and Hypothalamic Glioma, Childhood	3
568	P	ATX030	Ataxia-Telangiectasia	82
569		PFF001	Pfeiffer Syndrome	80
570	P	NNN008	Noonan Syndrome 1	78
571	P	SRC025	Sarcoidosis 1	76
572	P	NRF023	Neurofibromatosis, Type Ii	75
573		MRF001	Marfan Syndrome	75
574		BHC003	Behcet Syndrome	74
575	P	MYS003	Myasthenia Gravis	73
576		VNH007	Von Hippel-Lindau Syndrome	72
577	P	TRN020	Turner Syndrome	71
578		FBR012	Fabry Disease	71
579	P	ALG028	Alagille Syndrome 1	70
580	P	SPR120	Supranuclear Palsy, Progressive, 1	70
581	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	69
582		APR006	Apert Syndrome	69
583	P	TYS001	Tay-Sachs Disease	69
584	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	69
585	P	FRG001	Fragile X Syndrome	69
586	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	68
587		SMT004	Smith-Lemli-Opitz Syndrome	68
588	P	PSD087	Pseudoxanthoma Elasticum	68
589	P	KRB001	Krabbe Disease	67
590	P	DYS007	Dyskeratosis Congenita	67
591	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
592	c	FML346	Familial Adenomatous Polyposis 1	67
593		LWC002	Lowe Oculocerebrorenal Syndrome	66
594	c	MCP050	Mucopolysaccharidosis, Type Ii	66
595	P	GCH001	Gaucher's Disease	66
596	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	66
597	P	KBK002	Kabuki Syndrome 1	66
598		INC021	Incontinentia Pigmenti	66
599	c	NNN010	Noonan Syndrome 3	65
600	P	CCK001	Cockayne Syndrome	65
601	c	GCH015	Gaucher Disease, Type I	65
602		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	65
603		NRR002	Norrie Disease	64
604		CRB011	Cerebrotendinous Xanthomatosis	64
605	c	CNG411	Congenital Disorder of Glycosylation, Type in	64
606	c	MCP049	Mucopolysaccharidosis, Type Vii	64
607	P	LPR021	Leprosy 3	63
608		WLL001	Williams-Beuren Syndrome	63
609	P	CRN015	Cornelia De Lange Syndrome	63
610	P	TRC072	Treacher Collins Syndrome 1	63
611	c	MNN047	Mannosidosis, Alpha B, Lysosomal	63
612		KRT001	Keratoconjunctivitis Sicca	62
613	P	MCK013	Meckel Syndrome, Type 1	62
614	P	RBL001	Rubella	62
615	P	UVT001	Uveitis	62
616		RFS006	Refsum Disease, Classic	62
617	P	NMN002	Niemann-Pick Disease	61
618	c	GCH016	Gaucher Disease, Type Ii	61
619		KLP010	Klippel-Trenaunay-Weber Syndrome	61
620	P	HRD008	Hereditary Hemorrhagic Telangiectasia	60
621	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
622		OCL020	Ocular Cicatricial Pemphigoid	60
623		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	60
624	P	DST002	Distal Arthrogryposis	60
625		VGT001	Vogt-Koyanagi-Harada Disease	59
626		PTR032	Peters-Plus Syndrome	59
627	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	59
628	c	GLC097	Glaucoma 3, Primary Congenital, a	59
629	P	OCL013	Oculodentodigital Dysplasia	58
630	P	PRM002	Primary Hyperoxaluria	58
631	c	MYT020	Myotonic Dystrophy 2	58
632	c	NMN016	Niemann-Pick Disease, Type B	58
633	c	PRX045	Peroxisome Biogenesis Disorder 1b	58
634		STR039	Sturge-Weber Syndrome	58
635	c	GCH017	Gaucher Disease, Type Iii	58
636	P	AXN002	Axenfeld-Rieger Syndrome	57
637		EXF001	Exfoliation Syndrome	57
638	P	ICH004	Ichthyosis	57
639	P	SLV001	Silver-Russell Syndrome	57
640	c	CRN139	Cornelia De Lange Syndrome 1	57
641		LCR014	Lacrimoauriculodentodigital Syndrome	57
642	P	LYS001	Loeys-Dietz Syndrome	57
643	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	56
644		OST024	Osteoporosis-Pseudoglioma Syndrome	56
645		CHN055	Chanarin-Dorfman Syndrome	56
646	P	STC001	Stickler Syndrome	56
647		STR020	Strabismus	56
648	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
649	P	HLL001	Hallermann-Streiff Syndrome	55
650		VRN004	Vernal Keratoconjunctivitis	55
651	c	NNN012	Noonan Syndrome 5	55
652	P	CRN108	Cranioectodermal Dysplasia 1	55
653		HRL003	Hurler Syndrome	55
654		KRT006	Keratoconjunctivitis	55
655		LPR001	Lepromatous Leprosy	54
656	P	END047	Endophthalmitis	54
657	c	ANT034	Anterior Uveitis	54
658	c	LBR014	Leber Congenital Amaurosis 4	54
659		MLT135	Multiple Sulfatase Deficiency	54
660	c	INT064	Intermediate Uveitis	53
661		ABL002	Ablepharon-Macrostomia Syndrome	53
662	c	NNN009	Noonan Syndrome 2	53
663	P	CNG010	Congenital Stationary Night Blindness	53
664		CCT002	Cicatricial Pemphigoid	53
665	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
666		EXP004	Exophthalmos	53
667		MCL006	Macular Retinal Edema	53
668	c	ART144	Arthrogryposis, Distal, Type 1a	53
669		RTN003	Retinal Ischemia	53
670		CYT005	Cytomegalovirus Retinitis	53
671		ENH001	Enhanced S-Cone Syndrome	53
672	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	53
673	P	OPN001	Open-Angle Glaucoma	53
674		DRY001	Dry Eye Syndrome	53
675	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	53
676		TRC008	Trachoma	52
677	c	OST163	Osteopetrosis, Autosomal Recessive 3	52
678	c	WRD033	Waardenburg Syndrome, Type 2e	52
679	c	ART120	Arthrogryposis, Distal, Type 3	52
680	c	PST005	Posterior Uveitis	52
681	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	52
682	P	MYT002	Myotonic Dystrophy	52
683		GLC012	Galactosialidosis	52
684	P	PSD015	Pseudohypoparathyroidism	51
685		CCH002	Coach Syndrome	51
686		KRT002	Keratomalacia	51
687	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	51
688	c	BRD012	Bardet-Biedl Syndrome 11	51
689	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	51
690	c	SPN293	Spinocerebellar Ataxia 12	51
691		FND002	Fundus Dystrophy	51
692		ACT011	Acute Contagious Conjunctivitis	51
693		NNT017	Neonatal Adrenoleukodystrophy	51
694	c	ATM099	Autoimmune Uveitis	51
695		CRN027	Corneal Neovascularization	51
696	c	PRX059	Peroxisome Biogenesis Disorder 1a	50
697		GLC004	Galactokinase Deficiency	50
698	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	50
699	P	WLL002	Weill-Marchesani Syndrome	50
700		PTH003	Pathologic Nystagmus	50
701	P	NGH001	Night Blindness	50
702		FSH001	Fish-Eye Disease	50
703	c	CCK007	Cockayne Syndrome B	50
704	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
705	P	HYP087	Hypotrichosis	50
706		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	50
707	P	RTN014	Retinal Artery Occlusion	50
708	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	50
709		CTY001	Cat Eye Syndrome	50
710		STR072	Stromal Keratitis	50
711	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
712		CHR101	Char Syndrome	50
713	P	SCL015	Scleritis	49
714		DBT006	Diabetic Macular Edema	49
715	P	ERL057	Early Infantile Epileptic Encephalopathy	49
716		PHL006	Phelan-Mcdermid Syndrome	49
717	P	NLX004	Neu-Laxova Syndrome 1	49
718	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
719	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	49
720		FRB001	Farber Lipogranulomatosis	49
721	c	GM2006	Gm2 Gangliosidosis	49
722	c	GRS014	Griscelli Syndrome, Type 2	48
723		RVS001	Revesz Syndrome	48
724	c	WRD032	Waardenburg Syndrome, Type 2a	48
725		CNJ012	Conjunctival Disease	48
726	c	BRD044	Bardet-Biedl Syndrome 17	48
727	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	48
728		NVS001	Neovascular Glaucoma	48
729		KRT008	Keratopathy	48
730		TBR006	Tuberculoid Leprosy	48
731		NNC002	Nance-Horan Syndrome	48
732		ACR058	Acrofacial Dysostosis 1, Nager Type	48
733	c	RTN177	Retinitis Pigmentosa 73	48
734	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	48
735	P	TYR004	Tyrosinemia	48
736	c	SPN312	Spinocerebellar Ataxia 14	48
737	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	48
738		RTN023	Retinitis	48
739		SYM002	Sympathetic Ophthalmia	47
740	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	47
741		MCR165	Microphthalmia with Limb Anomalies	47
742	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	47
743	c	HNT004	Huntington Disease-Like 2	47
744	P	CNR007	Cone-Rod Dystrophy 6	47
745	P	CRN028	Corneal Ulcer	47
746	c	ALB019	Albinism, Oculocutaneous, Type Iv	47
747	c	LKD015	Leukodystrophy, Hypomyelinating, 3	47
748	c	RTN142	Retinitis Pigmentosa 38	47
749	c	BRD032	Bardet-Biedl Syndrome 14	47
750	c	OPT051	Opitz Gbbb Syndrome, Type I	47
751	P	GNG009	Gangliosidosis	47
752		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	47
753	c	ART155	Arthrogryposis, Distal, Type 2b1	47
754	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	46
755	c	SPN100	Spinocerebellar Ataxia 27	46
756		MCL003	Macular Holes	46
757	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
758		MYP136	Myopathy, Centronuclear, X-Linked	46
759	c	WRD020	Waardenburg Syndrome, Type 4a	46
760	c	LKD010	Leukodystrophy, Hypomyelinating, 2	46
761		CRD002	Cri-Du-Chat Syndrome	46
762	P	SDR002	Siderosis	46
763	c	WRD019	Waardenburg Syndrome, Type 4b	46
764	P	CRN276	Corneal Endothelial Dystrophy	46
765	c	RTN172	Retinitis Pigmentosa 1	46
766		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	46
767		CHR492	Chromosome 13q14 Deletion Syndrome	45
768		BRN041	Bornholm Eye Disease	45
769	c	NNN013	Noonan Syndrome 6	45
770		BLL004	Bullous Keratopathy	45
771		MNL001	Monilethrix	45
772	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	45
773	P	MNN018	Mannosidosis	45
774		VTR005	Vitreous Disease	45
775	c	BRD020	Bardet-Biedl Syndrome 8	45
776	P	MSC022	Mosaic Variegated Aneuploidy Syndrome	45
777		IRD001	Iridocyclitis	45
778	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
779		CRN024	Corneal Disease	45
780		INC003	Inclusion Conjunctivitis	45
781		OCL033	Oculocerebral Syndrome with Hypopigmentation	45
782	c	BRD033	Bardet-Biedl Syndrome 13	45
783		TKL001	Tukel Syndrome	45
784	c	ACH021	Achromatopsia 3	45
785	c	ART061	Arthrogryposis, Distal, Type 2a	45
786	c	LKD019	Leukodystrophy, Hypomyelinating, 6	45
787	c	OPT050	Opitz Gbbb Syndrome, Type Ii	45
788	c	MCL066	Macular Dystrophy, Vitelliform, 2	44
789	c	SHR030	Short Qt Syndrome	44
790	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	44
791		UVL010	Uveal Disease	44
792	c	WRD031	Waardenburg Syndrome, Type 3	44
793	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	44
794	c	HYP507	Hypotrichosis 1	44
795	c	BRD011	Bardet-Biedl Syndrome 10	44
796	c	MCK032	Meckel Syndrome, Type 3	44
797	c	SPN103	Spinocerebellar Ataxia 31	44
798		CHR008	Choroiditis	44
799		ATP013	Atopic Keratoconjunctivitis	44
800	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	44
801	c	MCK012	Meckel Syndrome, Type 6	44
802		ANG002	Angiostrongyliasis	44
803	c	SPN308	Spinocerebellar Ataxia 28	44
804	c	BRD018	Bardet-Biedl Syndrome 6	44
805		BLP005	Blepharitis	44
806	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	44
807	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	43
808	c	JBR024	Joubert Syndrome 14	43
809	c	TYR011	Tyrosinemia, Type Iii	43
810	c	RTN160	Retinitis Pigmentosa 60	43
811	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	43
812		TRP014	Triploidy	43
813	P	CRN026	Corneal Edema	43
814	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	43
815		OCL025	Ocular Toxoplasmosis	43
816		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	43
817		EST005	Esotropia	43
818		LCR008	Lacrimal Apparatus Disease	43
819	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	43
820		CRN025	Corneal Dystrophy	42
821	c	NNN011	Noonan Syndrome 4	42
822	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	42
823	c	MYS078	Myasthenic Syndrome, Congenital, 14	42
824	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	42
825		VRN001	Vernal Conjunctivitis	42
826	c	BRD048	Bardet-Biedl Syndrome 18	42
827	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	42
828	c	RTN143	Retinitis Pigmentosa 47	42
829		DBT090	Diabetes and Deafness, Maternally Inherited	42
830	c	ART146	Arthrogryposis, Distal, Type 9	42
831	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	42
832	c	BRD035	Bardet-Biedl Syndrome 15	42
833		ARC023	Arcus Corneae	42
834	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	42
835	c	RTN043	Retinitis Pigmentosa 13	42
836	c	JBR015	Joubert Syndrome 6	42
837	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	42
838	P	CHR637	Choroidal Dystrophy, Central Areolar, 1	41
839	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	41
840	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	41
841	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	41
842		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	41
843	c	HYP575	Hypotrichosis 7	41
844	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	41
845	c	CNT028	Central Retinal Artery Occlusion	41
846		ACN019	Acanthamoeba Keratitis	41
847		SPN331	Spondyloocular Syndrome	41
848	c	ALB016	Albinism, Oculocutaneous, Type Vii	41
849	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	41
850		MYP139	Myopathy, Proximal, and Ophthalmoplegia	41
851		CHR211	Chromosome 18p Deletion Syndrome	41
852	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	41
853	c	CTR098	Cataract 1, Multiple Types	41
854	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	41
855	c	CHR054	Chronic Closed-Angle Glaucoma	41
856	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	41
857	P	MTC010	Mitochondrial Dna Depletion Syndrome	41
858		HYP801	Hyperferritinemia with or Without Cataract	41
859	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
860	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	40
861		MRN002	Mooren's Ulcer	40
862		LWT001	Low Tension Glaucoma	40
863	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	40
864	c	GLC083	Glaucoma 3, Primary Infantile, B	40
865		FNG016	Fungal Keratitis	40
866	c	MCR263	Microphthalmia, Syndromic 1	40
867	c	MCR261	Microphthalmia, Syndromic 2	40
868	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
869		CHR382	Chromosome 18q Deletion Syndrome	40
870		SNL007	Senile Cataract	40
871	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	40
872	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	40
873		VTR003	Vitreous Detachment	40
874		PRM024	Primary Angle-Closure Glaucoma	40
875		ORB006	Orbital Cellulitis	40
876		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	40
877	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	40
878		EXT022	Exotropia	40
879		LNS003	Lens Disease	40
880	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
881	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	40
882	c	GLL038	Galloway-Mowat Syndrome 1	40
883		OCL010	Ocular Hypotension	40
884		GNT006	Giant Papillary Conjunctivitis	40
885	c	HYP559	Hypotrichosis 8	40
886	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	40
887		GLC001	Glaucomatocyclitic Crisis	40
888		CHR078	Chorioretinitis	39
889	c	BRD017	Bardet-Biedl Syndrome 5	39
890	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	39
891		END072	Endotheliitis	39
892		BRB006	Barber-Say Syndrome	39
893		CNJ007	Conjunctivochalasis	39
894	c	NNN021	Noonan Syndrome 8	39
895	c	MCK033	Meckel Syndrome, Type 4	39
896		HRL004	Hurler-Scheie Syndrome	39
897	c	NNN024	Noonan Syndrome 9	39
898	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	39
899		RCR001	Recurrent Corneal Erosion	39
900	c	ANT071	Anterior Segment Dysgenesis 4	39
901		CRN247	Corneal Dystrophy, Thiel-Behnke Type	39
902	c	MCK031	Meckel Syndrome, Type 2	39
903		FNT005	Fontaine Progeroid Syndrome	39
904	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
905		XFP001	Xfe Progeroid Syndrome	39
906		EXC003	Excessive Tearing	38
907		ORB013	Orbital Disease	38
908		SLF014	Sulfite Oxidase Deficiency, Isolated	38
909		BCK003	Background Diabetic Retinopathy	38
910		BLT001	Bilateral Retinoblastoma	38
911		INT042	Internuclear Ophthalmoplegia	38
912		CHR386	Chromosome 6pter-P24 Deletion Syndrome	38
913		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	38
914	c	MCP051	Mucopolysaccharidosis, Type Ix	38
915	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	38
916		RBS002	Rubeosis Iridis	38
917		HYP084	Hypopyon	38
918	c	RTN090	Retinitis Pigmentosa 55	38
919	c	LKD009	Leukodystrophy, Hypomyelinating, 5	38
920	c	RTN048	Retinitis Pigmentosa 19	38
921		DBT007	Diabetic Cataract	38
922		HRP025	Herpes Simplex Virus Keratitis	38
923		AST003	Asthenopia	38
924	c	DYS119	Dystonia 9	38
925		INT082	Intraocular Retinoblastoma	38
926		SPP007	Suppression Amblyopia	38
927		BRN026	Branch Retinal Artery Occlusion	38
928		PPL019	Papillary Conjunctivitis	38
929		RTN013	Retinal Hemangioblastoma	38
930	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	38
931	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	38
932	P	JVN042	Juvenile Retinoschisis	38
933	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	38
934	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	38
935	c	WRB005	Warburg Micro Syndrome 4	38
936	P	CNG024	Congenital Nystagmus	38
937	c	OST126	Osteopetrosis, Autosomal Recessive 1	37
938	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	37
939	c	MNS014	Monosomy 22	37
940	c	LKD008	Leukodystrophy, Hypomyelinating, 4	37
941	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
942	c	HYP581	Hypotrichosis 6	37
943	c	NNN025	Noonan Syndrome 10	37
944	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
945	c	PRM032	Primary Congenital Glaucoma	37
946		HYP008	Hypertensive Retinopathy	37
947	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	37
948	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	37
949	c	CNR017	Cone-Rod Dystrophy 9	37
950		EPT025	Epithelial Basement Membrane Dystrophy	37
951	P	JVN008	Juvenile Glaucoma	37
952	c	RTN136	Retinitis Pigmentosa 44	37
953	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	37
954		OCL004	Ocular Hyperemia	37
955		EPC005	Epicanthus	37
956		CRT012	Cortical Blindness	37
957		EPT021	Epithelial Recurrent Erosion Dystrophy	37
958	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
959	c	MCK014	Meckel Syndrome, Type 5	37
960		MND025	Mandibulofacial Dysostosis with Alopecia	37
961	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	37
962	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	37
963		PHT008	Photosensitive Epilepsy	37
964		PRL047	Prolonged Electroretinal Response Suppression	37
965		DGN002	Degenerative Myopia	37
966	c	RTN044	Retinitis Pigmentosa 14	37
967		MGL003	Megalocornea	37
968	c	LBR007	Leber Congenital Amaurosis 12	36
969	c	BRD045	Bardet-Biedl Syndrome 19	36
970		CHR079	Choroid Disease	36
971	c	RTN149	Retinitis Pigmentosa 42	36
972	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	36
973	c	RTN131	Retinitis Pigmentosa 27	36
974	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	36
975		PRS025	Presbyopia	36
976	c	CNR016	Cone-Rod Dystrophy 7	36
977		BLP006	Blepharoconjunctivitis	36
978		LMB008	Limb-Mammary Syndrome	36
979	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
980		PNC059	Punctate Inner Choroidopathy	36
981	c	WRD024	Waardenburg Syndrome, Type 4c	36
982	c	CTR118	Cataract 14, Multiple Types	36
983	c	ART147	Arthrogryposis, Distal, Type 7	36
984	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
985	c	LBR011	Leber Congenital Amaurosis 16	36
986		SPR034	Superior Limbic Keratoconjunctivitis	36
987	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
988		DSS006	Disuse Amblyopia	36
989		FRS019	Farsightedness	36
990	c	PST008	Posterior Scleritis	36
991		SHP001	Shipyard Eye	36
992		BLP001	Blepharochalasis	36
993	c	ATS076	Autosomal Recessive Stickler Syndrome	36
994	P	DCR003	Dacryoadenitis	36
995	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	36
996		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	36
997	c	RTN066	Retinitis Pigmentosa 4	36
998		PNG001	Pinguecula	36
999	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	36
1000		ANG004	Angioid Streaks	36
1001	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	36
1002	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	35
1003	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	35
1004		XRP001	Xerophthalmia	35
1005		LSS001	Loiasis	35
1006		ANG062	Angioosteohypertrophic Syndrome	35
1007	c	RTN186	Retinitis Pigmentosa 75	35
1008		MLT035	Multifocal Choroiditis	35
1009	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	35
1010	c	BRD047	Bardet-Biedl Syndrome 16	35
1011	c	RTN054	Retinitis Pigmentosa 25	35
1012		PHT002	Photokeratitis	35
1013	c	NNN020	Noonan Syndrome 7	35
1014		GPS001	Gapo Syndrome	35
1015	c	ANT023	Anterior Scleritis	35
1016	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	35
1017		RTN002	Retinal Perforation	35
1018		OPH002	Ophthalmia Neonatorum	35
1019	P	SPS012	Spastic Paraplegia 3a	35
1020		IRT001	Iritis	35
1021	c	SPN299	Spinocerebellar Ataxia 20	35
1022	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	35
1023	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	35
1024	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	35
1025		LGH012	Leigh Syndrome with Leukodystrophy	35
1026		PST063	Postsynaptic Congenital Myasthenic Syndromes	35
1027		PRM056	Primrose Syndrome	35
1028		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	35
1029	c	JBR025	Joubert Syndrome 17	35
1030	c	JBR041	Joubert Syndrome 3	34
1031	c	ART119	Arthrogryposis, Distal, Type 5	34
1032	c	RTN047	Retinitis Pigmentosa 18	34
1033	c	RTN134	Retinitis Pigmentosa 40	34
1034	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	34
1035	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	34
1036	c	CNR013	Cone-Rod Dystrophy 12	34
1037		CLR133	Colorblindness, Partial, Protan Series	34
1038		KNZ001	Kanzaki Disease	34
1039	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	34
1040	c	SPN247	Spinocerebellar Ataxia Type 19/22	34
1041	c	RTN050	Retinitis Pigmentosa 20	34
1042	c	CNG195	Congenital Disorder of Glycosylation, Type Id	34
1043	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
1044		CRN141	Corneal Dystrophy, Reis-Bucklers Type	34
1045	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	34
1046	c	JVN038	Juvenile Myasthenia Gravis	34
1047	c	RTN042	Retinitis Pigmentosa 12	34
1048	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
1049	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	34
1050	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	34
1051		FLM001	Filamentary Keratitis	34
1052	c	RTN165	Retinitis Pigmentosa 68	34
1053		JBR005	Joubert Syndrome with Ocular Anomalies	34
1054	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	34
1055		SVR002	Severe Nonproliferative Diabetic Retinopathy	34
1056		SCL013	Scleral Disease	34
1057		FCH002	Fuchs' Heterochromic Uveitis	34
1058		PHR002	Pharyngoconjunctival Fever	34
1059	c	MYS011	Myasthenia Gravis Congenital	33
1060		UNL002	Unilateral Retinoblastoma	33
1061	c	RTN055	Retinitis Pigmentosa 26	33
1062	c	WRD010	Waardenburg Syndrome Type 4	33
1063	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	33
1064		PNC012	Punctate Epithelial Keratoconjunctivitis	33
1065	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
1066	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	33
1067	c	ACT047	Acute Endophthalmitis	33
1068	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	33
1069		CRN273	Corneal Dystrophy, Subepithelial Mucinous	33
1070	c	ICH023	Ichthyosis, Acquired	33
1071	c	SPS039	Spastic Paraplegia 5a	33
1072		BLP004	Blepharophimosis	33
1073	c	ORT011	Orthostatic Hypotension 1	33
1074	c	CRN109	Cranioectodermal Dysplasia 2	33
1075	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	33
1076	c	MCK034	Meckel Syndrome, Type 8	33
1077	c	BRD019	Bardet-Biedl Syndrome 7	33
1078	c	MCR251	Microphthalmia, Syndromic 6	33
1079		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	33
1080		LCR001	Lacrimal Duct Obstruction	33
1081	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
1082	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	33
1083		HRD016	Hereditary Retinal Dystrophy	33
1084		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	33
1085	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	33
1086	c	SPN099	Spinocerebellar Ataxia 26	33
1087		HYD007	Hydrophthalmos	33
1088	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
1089		FRN020	Frontal Fibrosing Alopecia	33
1090	c	SPS036	Spastic Paraplegia 3	33
1091	c	CTR096	Cataract 6, Multiple Types	33
1092	c	JBR012	Joubert Syndrome 5	32
1093	c	RTN067	Retinitis Pigmentosa 41	32
1094	c	RTN062	Retinitis Pigmentosa 33	32
1095	c	LPR022	Leprosy 2	32
1096		BSL037	Basal Laminar Drusen	32
1097		CRN274	Corneal Dystrophy, Posterior Amorphous	32
1098	c	HYP515	Hypotrichosis 3	32
1099	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	32
1100	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	32
1101		OLV004	Oliver-Mcfarlane Syndrome	32
1102	c	CND011	Cone Dystrophy 3	32
1103	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	32
1104		ORB008	Orbital Plasma Cell Granuloma	32
1105		EXP002	Exposure Keratitis	32
1106		END034	Endocrine Exophthalmos	32
1107	P	HYP700	Hypomyelinating Leukodystrophy	32
1108	c	RBN008	Rubinstein-Taybi Syndrome 2	32
1109		CRN285	Corneal Dystrophy, Fleck	32
1110	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	32
1111	c	CNG198	Congenital Disorder of Glycosylation, Type Il	32
1112		STR046	Stargardt Macular Degeneration	32
1113	c	WLL036	Weill-Marchesani Syndrome 1	32
1114	c	RTN133	Retinitis Pigmentosa 43	32
1115	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	32
1116	c	JBR022	Joubert Syndrome 20	32
1117		ANS004	Anisometropia	32
1118	c	HYP525	Hypotrichosis 2	32
1119	c	CNG199	Congenital Disorder of Glycosylation, Type Im	32
1120	c	PRX060	Peroxisome Biogenesis Disorder 5a	32
1121	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	32
1122	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	31
1123	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
1124	c	RTN046	Retinitis Pigmentosa 17	31
1125	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	31
1126	P	CRN249	Cornea Plana	31
1127	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	31
1128	c	RTN059	Retinitis Pigmentosa 30	31
1129	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	31
1130		ACT038	Acute Retrobulbar Neuritis	31
1131		SVN002	Sveinsson Chorioretinal Atrophy	31
1132	c	SPS091	Spastic Paraplegia 4	31
1133	c	RTN064	Retinitis Pigmentosa 35	31
1134	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	31
1135		RDG001	Red-Green Color Blindness	31
1136	c	CNG188	Congenital Disorder of Glycosylation, Type if	31
1137		OCL063	Oculopharyngodistal Myopathy	31
1138	c	CCK002	Cockayne Syndrome Type I	31
1139	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
1140	c	RTN056	Retinitis Pigmentosa 28	31
1141		ISL062	Isolated Plagiocephaly	31
1142	c	RTN116	Retinitis Pigmentosa 56	31
1143		TBL025	Tubulointerstitial Nephritis with Uveitis	31
1144		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	31
1145	P	ACT028	Acute Closed-Angle Glaucoma	31
1146	c	RTN129	Retinitis Pigmentosa 49	31
1147	c	ACQ027	Acquired Cutis Laxa	31
1148		CRN288	Corneal Dystrophy, Band-Shaped	31
1149		LRY022	Laryngoonychocutaneous Syndrome	31
1150		SPS002	Spastic Entropion	31
1151	c	DYS059	Dystonia 16	31
1152		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	31
1153	c	CNR006	Cone-Rod Dystrophy 5	31
1154	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	31
1155	c	RTN152	Retinitis Pigmentosa 66	31
1156	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	31
1157	c	RTN169	Retinitis Pigmentosa 70	31
1158		CNJ017	Conjunctival Nevus	31
1159	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	31
1160	c	PLZ002	Pelizaeus-Merzbacher-Like Disease	30
1161		SNL004	Senile Ectropion	30
1162		IRS003	Iris Disease	30
1163	P	DSB002	Desbuquois Dysplasia	30
1164	P	DCR004	Dacryocystitis	30
1165	c	SPS021	Spastic Paraplegia 10	30
1166	c	PRX056	Peroxisome Biogenesis Disorder 11b	30
1167	c	RTN114	Retinitis Pigmentosa 58	30
1168		ENT005	Entropion	30
1169		ENP001	Enophthalmos	30
1170	c	CNR005	Cone-Rod Dystrophy 3	30
1171	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	30
1172		HYP048	Hypotropia	30
1173	c	LBR013	Leber Congenital Amaurosis 3	30
1174		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	30
1175		BRD005	Borderline Leprosy	30
1176	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	30
1177	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	30
1178		STR019	Steroid-Induced Glaucoma	30
1179	c	SPN098	Spinocerebellar Ataxia 25	30
1180	c	CTR174	Cataract 40	30
1181		CRN010	Corneal Granular Dystrophy	30
1182	c	RTN210	Retinitis Pigmentosa 50	30
1183	c	ERY062	Erythrokeratodermia Variabilis Et Progressiva 5	30
1184		CNJ001	Conjugate Gaze Palsy	30
1185	c	HRM020	Hermansky-Pudlak Syndrome 10	30
1186	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	30
1187	c	STC013	Stickler Syndrome, Type Ii	30
1188		RTN006	Retinal Drusen	30
1189		LGP001	Lagophthalmos	30
1190		IMM002	Immature Cataract	30
1191		LNS001	Lens Subluxation	30
1192	c	MYS067	Myasthenic Syndrome, Congenital, 22	30
1193	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	30
1194	c	RTN171	Retinitis Pigmentosa 59	30
1195	c	DSB005	Desbuquois Dysplasia 2	30
1196	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	30
1197	c	OST120	Osteopetrosis, Autosomal Recessive 5	30
1198	c	HYP577	Hypotrichosis 13	30
1199		VTR002	Vitreous Syneresis	30
1200	c	WLL037	Weill-Marchesani Syndrome 2	30
1201	c	DYS146	Dystonia 24	29
1202	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
1203	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	29
1204		CNG005	Congenital Aphakia	29
1205	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	29
1206	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	29
1207		ACT022	Acute Retinal Necrosis Syndrome	29
1208		RTN019	Retinal Telangiectasia	29
1209	c	B4G002	B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	29
1210	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
1211	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	29
1212		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	29
1213		STR086	Stromal Dystrophy	29
1214	c	JBR014	Joubert Syndrome 9	29
1215		CYC001	Cycloplegia	29
1216	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	29
1217	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
1218	c	ART112	Arthrogryposis, Distal, Type 10	29
1219	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	29
1220		CHR053	Chronic Follicular Conjunctivitis	29
1221	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
1222	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
1223	c	SPS092	Spastic Paraplegia 11	29
1224	c	PRX050	Peroxisome Biogenesis Disorder 9b	29
1225	P	VTR008	Vitreoretinal Degeneration	29
1226	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	29
1227	c	PRX048	Peroxisome Biogenesis Disorder 10a	29
1228		CRN004	Corneal Abscess	29
1229	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	29
1230	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
1231	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	29
1232		RNG003	Ring Dermoid of Cornea	29
1233	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	29
1234		CNJ010	Conjunctival Degeneration	29
1235	P	SCL047	Sclerocornea	29
1236	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	29
1237	c	LBR009	Leber Congenital Amaurosis 14	29
1238	c	ERL012	Early-Onset Glaucoma	29
1239	c	PRX051	Peroxisome Biogenesis Disorder 6a	29
1240	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	28
1241	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	28
1242	c	MCR252	Microphthalmia, Syndromic 5	28
1243	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	28
1244	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
1245	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	28
1246	c	ANR046	Aniridia 3	28
1247	c	SPS025	Spastic Paraplegia 15	28
1248	c	GLL040	Galloway-Mowat Syndrome 3	28
1249	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	28
1250	c	RTN106	Retinitis Pigmentosa 51	28
1251	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	28
1252	c	STS007	Sotos Syndrome 2	28
1253	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	28
1254		SCL014	Scleral Staphyloma	28
1255	c	PRX054	Peroxisome Biogenesis Disorder 12a	28
1256	c	RTN146	Retinitis Pigmentosa 62	28
1257	c	FRN033	Frontonasal Dysplasia 2	28
1258	c	RTN052	Retinitis Pigmentosa 23	28
1259		CLS047	Classic Progressive Supranuclear Palsy Syndrome	28
1260	c	CRN120	Corneal Dystrophy, Fuchs Endothelial, 3	28
1261		FRN022	Frontofacionasal Dysplasia	28
1262	c	RTN190	Retinitis Pigmentosa 76	28
1263		ALT003	Alternating Exotropia	28
1264	c	INF019	Infectious Anterior Uveitis	28
1265	c	CHR093	Chronic Orbital Inflammation	28
1266	c	SPN286	Spinocerebellar Ataxia 40	28
1267	c	ART104	Arthrogryposis, Distal, Type 5d	28
1268		RGL001	Regular Astigmatism	28
1269	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	28
1270	c	HRD186	Hereditary Spastic Paraplegia 51	28
1271	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	28
1272	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
1273	c	MTC074	Metachromatic Leukodystrophy, Adult Form	28
1274		LKC002	Leukocoria	28
1275	c	ALB017	Albinism, Oculocutaneous, Type Vi	28
1276	c	ANT083	Anterior Segment Dysgenesis 7	28
1277		CRN235	Corneal Dystrophy, Groenouw Type I	28
1278	c	BRD021	Bardet-Biedl Syndrome 9	28
1279	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
1280	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	27
1281		CRN009	Corneal Ectasia	27
1282	c	LYS020	Loeys-Dietz Syndrome 5	27
1283	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	27
1284		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	27
1285	c	MCR245	Microphthalmia, Syndromic 8	27
1286	c	MCK028	Meckel Syndrome 13	27
1287		CLR132	Colorblindness, Partial, Deutan Series	27
1288	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	27
1289	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	27
1290	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	27
1291	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	27
1292	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	27
1293	c	BRD050	Bardet-Biedl Syndrome 21	27
1294	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	27
1295	c	LKD020	Leukodystrophy, Hypomyelinating, 10	27
1296		CHR077	Chorioretinal Scar	27
1297		PRL014	Paralytic Squint	27
1298	c	JBR016	Joubert Syndrome 10	27
1299		GLD003	Goldmann-Favre Syndrome	27
1300		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	27
1301	c	JBR031	Joubert Syndrome 21	27
1302	c	INF122	Infantile Krabbe Disease	27
1303	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	27
1304	c	KBK003	Kabuki Syndrome 2	27
1305		IRR001	Irregular Astigmatism	27
1306	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	27
1307	c	ART128	Arthrogryposis, Distal, Type 6	27
1308	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	27
1309	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	27
1310	c	SPS027	Spastic Paraplegia 17	27
1311	c	DYS145	Dystonia 23	27
1312	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	27
1313	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	27
1314		ISL011	Isolated Aniridia	27
1315	P	ATX033	Ataxia-Oculomotor Apraxia 4	27
1316		PRF002	Perforated Corneal Ulcer	27
1317		CCT001	Cicatricial Ectropion	27
1318	c	PRX065	Peroxisome Biogenesis Disorder 3a	27
1319		VST003	Vestibular Nystagmus	27
1320	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	27
1321	c	MCR352	Microphthalmia, Isolated, with Coloboma 6	27
1322		SLF015	Self-Improving Collodion Baby	27
1323	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
1324		HMC012	Hemicrania Continua	26
1325	c	MCR312	Microphthalmia, Syndromic 10	26
1326	c	PRX043	Peroxisome Biogenesis Disorder 6b	26
1327		OLG014	Oligocone Trichromacy	26
1328	c	MYS076	Myasthenic Syndrome, Congenital, 8	26
1329		CTR014	Cataract Microcornea Syndrome	26
1330	c	RTN213	Retinitis Pigmentosa 80	26
1331		NCR009	Necrobiotic Xanthogranuloma	26
1332		STC017	Stickler Syndrome, Type I, Nonsyndromic Ocular	26
1333		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	26
1334		CRN238	Corneal Dystrophy, Epithelial Basement Membrane	26
1335		MCH006	Mechanical Strabismus	26
1336		MCR067	Microcoria, Congenital	26
1337		MCL018	Macular Dystrophy, Concentric Annular	26
1338		CLB009	Coloboma of Iris	26
1339	c	NYS017	Nystagmus 1, Congenital, X-Linked	26
1340	c	JBR013	Joubert Syndrome 8	26
1341	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	26
1342	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
1343	c	JBR018	Joubert Syndrome 4	26
1344	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
1345	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	26
1346	c	RTN176	Retinitis Pigmentosa 71	26
1347	c	JVN015	Juvenile Huntington Disease	26
1348	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	26
1349		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	26
1350	c	MCR212	Microphthalmia, Syndromic 12	26
1351	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	26
1352	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	26
1353		CRN022	Corneal Degeneration	26
1354	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	26
1355		MNC001	Monocular Esotropia	26
1356		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	26
1357	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	26
1358		ACC003	Accommodative Esotropia	26
1359	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	26
1360		SHR065	Short Stature with Microcephaly and Distinctive Facies	26
1361		PSD004	Pseudomembranous Conjunctivitis	26
1362		MRG001	Morgagni Cataract	26
1363		CHR270	Chromosome 9p Duplication	26
1364	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	26
1365	c	PRX046	Peroxisome Biogenesis Disorder 7a	26
1366		PNP001	Panophthalmitis	26
1367	c	MCK035	Meckel Syndrome, Type 10	26
1368		PGM007	Pigmented Paravenous Chorioretinal Atrophy	26
1369	c	CRN135	Cornelia De Lange Syndrome 3	26
1370		SVR058	Severe Early-Childhood-Onset Retinal Dystrophy	26
1371		BTT011	Butterfly-Shaped Pigment Dystrophy	26
1372		RTN004	Retinal Microaneurysm	26
1373	c	CCK004	Cockayne Syndrome Type Iii	25
1374	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	25
1375		ACT120	Acute Zonal Occult Outer Retinopathy	25
1376		SPR019	Superficial Keratitis	25
1377	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	25
1378	c	MYS056	Myasthenic Syndrome, Congenital, 17	25
1379	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	25
1380	c	PRX057	Peroxisome Biogenesis Disorder 4a	25
1381		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	25
1382	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	25
1383	c	ART131	Arthrogryposis, Distal, Type 4	25
1384	c	WLL040	Weill-Marchesani Syndrome 4	25
1385	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	25
1386	P	NNT006	Neonatal Myasthenia Gravis	25
1387		OPH001	Ophthalmomyiasis	25
1388	c	SPS013	Spastic Paraplegia 8	25
1389	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	25
1390	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	25
1391		VTR001	Vitreoretinal Dystrophy	25
1392	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	25
1393		TTR023	Tetraamelia-Multiple Malformations Syndrome	25
1394	c	RTN159	Retinitis Pigmentosa 45	25
1395	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	25
1396	c	WRB004	Warburg Micro Syndrome 3	25
1397	c	LKD016	Leukodystrophy, Hypomyelinating, 9	25
1398	c	SPN418	Spinocerebellar Ataxia 44	25
1399	c	CRN215	Cornelia De Lange Syndrome 4	25
1400	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	25
1401	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	25
1402		BLP041	Blepharochalasis and Double Lip	25
1403	c	PRX091	Peroxisome Biogenesis Disorder 8a	25
1404	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	25
1405	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	25
1406	c	MYS064	Myasthenic Syndrome, Congenital, 16	25
1407		MTR001	Mature Cataract	25
1408	c	CRN209	Cornelia De Lange Syndrome 5	25
1409	c	PRX058	Peroxisome Biogenesis Disorder 4b	25
1410		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	25
1411	c	FRN032	Frontonasal Dysplasia 3	25
1412		ISL089	Isolated Scaphocephaly	25
1413	c	RTN060	Retinitis Pigmentosa 31	25
1414		HRD019	Hereditary Choroidal Atrophy	25
1415	c	PRX047	Peroxisome Biogenesis Disorder 5b	25
1416		CNR033	Cone-Rod Synaptic Disorder, Congenital Nonprogressive	25
1417	c	ART122	Arthrogryposis, Distal, Type 8	25
1418	c	LKD030	Leukodystrophy, Hypomyelinating, 17	25
1419		IND004	Indeterminate Leprosy	25
1420	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	25
1421	c	WLL038	Weill-Marchesani Syndrome 3	25
1422	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	25
1423		TTR027	Tetrasomy 15q26	25
1424		INT012	Interval Angle-Closure Glaucoma	25
1425	c	SPS020	Spastic Paraplegia 1	25
1426	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	25
1427		CRL001	Cerulean Cataract	25
1428		RTN174	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome	25
1429		HRD037	Hardikar Syndrome	25
1430		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	25
1431	c	RTN178	Retinitis Pigmentosa 72	25
1432	c	JBR030	Joubert Syndrome 22	25
1433	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	25
1434	c	SPS041	Spastic Paraplegia 6	25
1435	c	LBR029	Leber Congenital Amaurosis 17	25
1436	c	JBR037	Joubert Syndrome 26	25
1437	c	HYP576	Hypotrichosis 4	25
1438	c	SPN421	Spinocerebellar Ataxia 47	25
1439	P	XLN065	X-Linked Infantile Nystagmus	25
1440	P	RTN102	Retinitis Pigmentosa, Y-Linked	25
1441	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	24
1442	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	24
1443	c	LKD023	Leukodystrophy, Hypomyelinating, 12	24
1444	c	BRD051	Bardet-Biedl Syndrome 20	24
1445	c	PSD047	Pseudo-Turner Syndrome	24
1446	c	SPN102	Spinocerebellar Ataxia 30	24
1447	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	24
1448	c	LBR010	Leber Congenital Amaurosis 15	24
1449	c	SHR032	Short Qt Syndrome 2	24
1450		CRN128	Corneal Dystrophy, Endothelial, X-Linked	24
1451	c	MCR228	Microphthalmia, Syndromic 13	24
1452		ISL087	Isolated Oxycephaly	24
1453		TTR019	Tetrasomy 5p	24
1454	c	NNN027	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2	24
1455	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	24
1456		SRP002	Serpiginous Choroiditis	24
1457	c	RTN141	Retinitis Pigmentosa 39	24
1458	c	DYS151	Dystonia 25	24
1459	c	CRN160	Corneal Dystrophy, Lattice Type Iiia	24
1460	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	24
1461		PRL018	Purulent Endophthalmitis	24
1462	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	24
1463	c	HYP578	Hypotrichosis 12	24
1464	c	EPL232	Epileptic Encephalopathy, Early Infantile, 68	24
1465		RTN185	Retinal Dysplasia, Primary	24
1466	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	24
1467		PHK008	Phakomatosis Cesioflammea	24
1468	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	24
1469	c	PRX052	Peroxisome Biogenesis Disorder 13a	24
1470	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	24
1471	c	ANT085	Anterior Segment Dysgenesis 5	24
1472		ISL061	Isolated Brachycephaly	24
1473	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	24
1474	c	STR040	Stargardt Disease 3	24
1475	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	24
1476	c	FRD006	Friedreich Ataxia 2	24
1477	c	SHR031	Short Qt Syndrome 1	24
1478	c	RTN147	Retinitis Pigmentosa 48	24
1479	c	SPN323	Spinocerebellar Ataxia 41	24
1480	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	24
1481	c	LKD021	Leukodystrophy, Hypomyelinating, 11	24
1482	c	CHR060	Chronic Dacryocystitis	24
1483	c	SPS023	Spastic Paraplegia 13	24
1484	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	24
1485	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	24
1486	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	24
1487		SHK001	Shaken Baby Syndrome	24
1488		TRM002	Traumatic Glaucoma	24
1489	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	24
1490		PRT101	Poretti-Boltshauser Syndrome	24
1491	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	24
1492	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	24
1493		ISL019	Isolated Duane Retraction Syndrome	24
1494	c	RTN157	Retinitis Pigmentosa 37	23
1495		ANS002	Aniseikonia	23
1496		PRT032	Partial Central Choroid Dystrophy	23
1497	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	23
1498		VTR018	Vitreoretinal Degeneration, Snowflake Type	23
1499		OCL057	Oculotrichodysplasia	23
1500	c	EPL234	Epileptic Encephalopathy, Early Infantile, 70	23
1501	c	CTR124	Cataract 10, Multiple Types	23
1502	c	CNR032	Cone-Rod Dystrophy 21	23
1503		DRM043	Dermochondrocorneal Dystrophy	23
1504		MTC181	Mitochondrial Dna-Related Progressive External Ophthalmoplegia	23
1505	P	PST016	Posterior Polar Cataract	23
1506		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	23
1507	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	23
1508	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	23
1509	c	DYS172	Dystonia 27	23
1510	c	JBR039	Joubert Syndrome 28	23
1511		PLL009	Pellucid Marginal Degeneration	23
1512	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	23
1513	c	PRX062	Peroxisome Biogenesis Disorder 8b	23
1514	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	23
1515	P	NNP011	Nanophthalmos 2	23
1516		HYP047	Hypertropia	23
1517	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	23
1518	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	23
1519		KRT057	Keratosis Follicularis Spinulosa Decalvans, X-Linked	23
1520	c	RTN195	Retinitis Pigmentosa 79	23
1521		KRT074	Keratoendotheliitis Fugax Hereditaria	23
1522	c	CNR026	Cone-Rod Dystrophy 18	23
1523		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	23
1524	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	23
1525		DPT001	Dipetalonemiasis	23
1526	c	SPN259	Spinocerebellar Ataxia 32	23
1527	c	SPS042	Spastic Paraplegia 9	23
1528		3MC004	3mc Syndrome 3	23
1529	c	MNS008	Monosomy 21	23
1530	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	23
1531	c	WRD022	Waardenburg Syndrome, Type 2d	23
1532	c	GLC078	Glaucoma 1, Open Angle, F	23
1533	c	LKD028	Leukodystrophy, Hypomyelinating, 15	23
1534	c	WRD029	Waardenburg Syndrome, Type 2b	23
1535	c	EPL233	Epileptic Encephalopathy, Early Infantile, 69	23
1536	c	JBR021	Joubert Syndrome 18	23
1537	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	23
1538	c	RTN085	Retinitis Pigmentosa 54	23
1539	c	LKD027	Leukodystrophy, Hypomyelinating, 14	22
1540	c	CNR012	Cone-Rod Dystrophy 11	22
1541	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	22
1542	c	SPS037	Spastic Paraplegia 31	22
1543	c	DYS138	Dystonia 21	22
1544	c	CNR025	Cone-Rod Dystrophy 15	22
1545	P	ACT077	Acute Orbital Inflammation	22
1546	c	SPN419	Spinocerebellar Ataxia 45	22
1547	c	HYP564	Hypocalcemia, Autosomal Dominant 2	22
1548		ERY043	Euryblepharon	22
1549	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	22
1550		CMB018	Combined Oxidative Phosphorylation Deficiency 7	22
1551	c	LKD029	Leukodystrophy, Hypomyelinating, 16	22
1552	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	22
1553	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	22
1554	c	GLL041	Galloway-Mowat Syndrome 4	22
1555	c	SNR015	Senior-Loken Syndrome 8	22
1556	c	ADL084	Adult-Onset Myasthenia Gravis	22
1557		PHC001	Phacolytic Glaucoma	22
1558		ORB010	Orbital Granuloma	22
1559	c	SPS198	Spastic Paraplegia 16, X-Linked	22
1560		CRT069	Cortical Malformations, Occipital	22
1561	c	JBR040	Joubert Syndrome 30	22
1562	c	JBR047	Joubert Syndrome 35	22
1563	c	EXD007	Exudative Vitreoretinopathy 3	22
1564	c	MCR217	Microphthalmia, Syndromic 11	22
1565	c	RTN192	Retinitis Pigmentosa 77	22
1566	c	CRN280	Cornea Plana 2, Autosomal Recessive	22
1567	c	RTN117	Retinitis Pigmentosa 57	22
1568	c	PRS058	Prosopagnosia, Hereditary	22
1569		MSC089	Mosaic Monosomy X	22
1570		CHR167	Chorioretinal Atrophy, Progressive Bifocal	22
1571	c	SPS028	Spastic Paraplegia 18	22
1572	c	TRC073	Treacher Collins Syndrome 2	22
1573	c	CNR030	Cone-Rod Dystrophy 20	22
1574	c	SNR004	Senior-Loken Syndrome 4	22
1575		DPK001	Deep Keratitis	22
1576	c	MYS077	Myasthenic Syndrome, Congenital, 15	22
1577	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	22
1578	c	GLL042	Galloway-Mowat Syndrome 5	22
1579	c	CRN147	Corneal Dystrophy, Fuchs Endothelial, 6	22
1580		SWN003	Sweeney-Cox Syndrome	22
1581	c	JBR043	Joubert Syndrome 32	22
1582	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	22
1583		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	22
1584	c	TRC071	Treacher Collins Syndrome 3	22
1585	c	MCK036	Meckel Syndrome, Type 9	22
1586		8P2002	8p23.1 Duplication Syndrome	22
1587	c	SPN107	Spinocerebellar Ataxia 9	22
1588	c	ATX024	Ataxia-Oculomotor Apraxia 3	22
1589	c	JBR028	Joubert Syndrome 13	22
1590		RTN212	Retinal Dystrophy with or Without Macular Staphyloma	22
1591	c	SPS034	Spastic Paraplegia 26	22
1592	c	CWD009	Cowden Syndrome 7	22
1593	c	CNR021	Cone-Rod Dystrophy 10	22
1594		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	22
1595	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	22
1596	c	CRN143	Corneal Dystrophy, Fuchs Endothelial, 4	21
1597		BTH002	Bothnia Retinal Dystrophy	21
1598	c	MCR262	Microphthalmia, Syndromic 4	21
1599		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	21
1600	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	21
1601	c	CLC055	Cole-Carpenter Syndrome 2	21
1602	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	21
1603	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	21
1604	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	21
1605	P	MNS011	Monosomy 9q22.3	21
1606	c	CTR182	Cataract 23, Multiple Types	21
1607	P	ERL043	Early-Onset Nuclear Cataract	21
1608		OCL070	Oculopalatocerebral Syndrome	21
1609	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	21
1610		EXT029	Extraocular Retinoblastoma	21
1611	P	IDP049	Idiopathic Anterior Uveitis	21
1612		ORB007	Orbital Cyst	21
1613	c	SHR033	Short Qt Syndrome 3	21
1614	c	CWD008	Cowden Syndrome 6	21
1615	c	CHR449	Choroidal Dystrophy, Central Areolar 2	21
1616	c	RTN144	Retinitis Pigmentosa 61	21
1617		RTN216	Retinitis Pigmentosa 82 with or Without Situs Inversus	21
1618		SCL011	Sclerosing Keratitis	21
1619		FLY003	Flynn-Aird Syndrome	21
1620	c	JBR045	Joubert Syndrome 33	21
1621	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	21
1622	c	MCR272	Microcephaly and Chorioretinopathy, Autosomal Recessive, 3	21
1623	c	HRN024	Horner Syndrome, Congenital	21
1624	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	21
1625	c	PRX068	Peroxisome Biogenesis Disorder 7b	21
1626	c	RTN181	Retinitis Pigmentosa 2, X-Linked	21
1627	c	MCR350	Microphthalmia, Isolated, with Coloboma 5	21
1628		CHR241	Chromosome 2q24 Microdeletion Syndrome	21
1629	c	MCK020	Meckel Syndrome, Type 11	21
1630	c	RTN196	Retinitis Pigmentosa 78	21
1631	c	CTR136	Cataract 41	21
1632	c	SPS062	Spastic Paraplegia 34, X-Linked	21
1633		TCT002	Tactile Agnosia	21
1634		CHR252	Chromosome 5p Duplication	21
1635		EYD001	Eye Degenerative Disease	21
1636	c	PRX066	Peroxisome Biogenesis Disorder 3b	21
1637	c	JBR044	Joubert Syndrome 31	21
1638	c	PRX089	Peroxisome Biogenesis Disorder 10b	21
1639	c	ACT037	Acute Dacryocystitis	21
1640		DCR002	Dacryocystocele	20
1641	c	BLP049	Blepharocheilodontic Syndrome 2	20
1642	c	SPS022	Spastic Paraplegia 12	20
1643	c	CWD004	Cowden Syndrome 5	20
1644		ACC002	Accommodative Spasm	20
1645		CRN007	Corneal Staphyloma	20
1646	c	LPR023	Leprosy 1	20
1647	c	RTN065	Retinitis Pigmentosa 36	20
1648		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	20
1649	c	STC011	Stickler Syndrome, Type V	20
1650	c	JBR038	Joubert Syndrome 27	20
1651		SPS087	Spasmus Nutans	20
1652		CLB011	Coloboma of Macula with Type B Brachydactyly	20
1653		CGN001	Cogan-Reese Syndrome	20
1654	c	CRN068	Corneal Endothelial Dystrophy Type 2	20
1655	c	SPN431	Spinocerebellar Ataxia, Autosomal Recessive 27	20
1656	c	MCR210	Microphthalmia, Isolated, with Coloboma 7	20
1657	c	GLC054	Glaucoma 3, Primary Congenital, D	20
1658	c	MCR214	Microphthalmia, Isolated, with Coloboma 9	20
1659	c	XLN227	X-Linked Chondrodysplasia Punctata 1	20
1660		DRM015	Dermoids of Cornea	20
1661	c	XLN229	X-Linked Chondrodysplasia Punctata 2	20
1662		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	20
1663	P	PRX064	Peroxisome Biogenesis Disorder 2b	20
1664		MCR220	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus	20
1665	P	MCL035	Macular Dystrophy, Retinal, 2	20
1666	c	ART060	Arthrogryposis, Distal, Type 1b	20
1667		ALT004	Alternating Esotropia	20
1668		CRY030	Cryptophthalmos, Unilateral or Bilateral, Isolated	20
1669	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	20
1670		ORB019	Orbital Margin, Hypoplasia of	20
1671	c	SNR011	Senior-Loken Syndrome 3	20
1672	c	RTN180	Retinitis Pigmentosa 74	20
1673		SLR002	Solar Retinopathy	20
1674	c	SPS032	Spastic Paraplegia 24	20
1675		HRR005	Harrod Syndrome	20
1676	c	HRD210	Hereditary Spastic Paraplegia 23	20
1677	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	20
1678		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	20
1679	c	RTN218	Retinitis Pigmentosa 84	20
1680	c	CRB168	Cerebroretinal Microangiopathy with Calcifications and Cysts 2	20
1681	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	20
1682		CTR027	Cataract-Glaucoma	20
1683	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	20
1684	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	20
1685		ARG003	Argyll Robertson Pupil	20
1686	c	MCL039	Macular Degeneration, Age-Related, 8	20
1687	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	20
1688	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	20
1689	c	RTN214	Retinitis Pigmentosa 81	20
1690	c	SPS029	Spastic Paraplegia 19	20
1691	c	CNR024	Cone-Rod Dystrophy 13	20
1692		ISL084	Isolated Trigonocephaly	19
1693		SNL001	Senile Entropion	19
1694		MNT308	Mental Retardation with Optic Atrophy, Deafness, and Seizures	19
1695	c	HYP528	Hypotrichosis 11	19
1696	c	STS009	Sotos Syndrome 3	19
1697	c	STC012	Stickler Syndrome, Type Iv	19
1698		GRM003	German Syndrome	19
1699	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	19
1700	P	MCR349	Microphthalmia, Isolated, with Coloboma 3	19
1701	c	SNR007	Senior-Loken Syndrome 7	19
1702	c	STC007	Stickler Syndrome, Type 3	19
1703	c	LKD031	Leukodystrophy, Hypomyelinating, 18	19
1704		CMB076	Combined Oxidative Phosphorylation Deficiency 31	19
1705	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	19
1706	c	NNP012	Nanophthalmos 4	19
1707		NTH002	Nathalie Syndrome	19
1708		ATS012	Autosomal Dominant Partial Epilepsy with Auditory Features	19
1709		IDP006	Idiopathic Corneal Edema	19
1710	c	HYP573	Hypotrichosis 5	19
1711	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	19
1712		RTH002	Rutherfurd Syndrome	19
1713		RTN037	Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma	19
1714	c	SPS033	Spastic Paraplegia 25	19
1715	c	SPS035	Spastic Paraplegia 29	19
1716	c	SPS038	Spastic Paraplegia 39	19
1717	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	19
1718		INT313	Intellectual Developmental Disorder with Cardiac Arrhythmia	19
1719	c	RTN130	Retinitis Pigmentosa 46	19
1720		CRN126	Corneal Dystrophy, Lisch Epithelial	19
1721		BLP042	Blepharoptosis, Myopia, and Ectopia Lentis	19
1722		MCR303	Macrosomia with Microphthalmia, Lethal	19
1723		PPL023	Pupil Disease	19
1724	c	SPS080	Spastic Paraplegia 51	19
1725		PHL001	Phlyctenulosis	19
1726	c	EPL238	Epileptic Encephalopathy, Early Infantile, 73	19
1727		SPN117	Spinocerebellar Degeneration and Corneal Dystrophy	19
1728	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	19
1729		FCL013	Focal Chorioretinitis	19
1730	c	ACQ050	Acquired Schizencephaly	18
1731		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	18
1732	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	18
1733		CRN023	Corneal Deposit	18
1734	c	SPS026	Spastic Paraplegia 16	18
1735		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	18
1736	c	SPR049	Supranuclear Palsy, Progressive, 2	18
1737		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	18
1738		GRW033	Growth Retardation, Small and Puffy Hands and Feet, and Eczema	18
1739	c	ANT067	Anterior Segment Dysgenesis 8	18
1740	c	EPL239	Epileptic Encephalopathy, Early Infantile, 74	18
1741	c	SPS161	Spastic Paraplegia 32	18
1742		MYP060	Myopic Macular Degeneration	18
1743		RDR002	Rodrigues Blindness	18
1744		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	18
1745		ABN001	Abnormal Retinal Correspondence	18
1746		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	18
1747	c	CHR059	Chronic Endophthalmitis	18
1748	c	GLL045	Galloway-Mowat Syndrome 6	18
1749		RTN170	Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities	18
1750	c	SNR006	Senior-Loken Syndrome 6	18
1751		ITR001	Iatrogenic Botulism	18
1752	c	CWD005	Cowden Syndrome 4	18
1753		MCR307	Microspherophakia-Metaphyseal Dysplasia	18
1754	c	MCR271	Microphthalmia, Isolated, with Coloboma 10	18
1755	c	HRD188	Hereditary Spastic Paraplegia 72	18
1756		CTR107	Cataract 13 with Adult I Phenotype	18
1757		NWF001	Newfoundland Rod-Cone Dystrophy	18
1758	c	EFM001	Efemp2-Related Cutis Laxa	18
1759		SPN356	Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia	18
1760		ICH011	Ichthyosis Follicularis Atrichia Photophobia Syndrome	18
1761		BRC094	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	18
1762	c	CNR029	Cone-Rod Dystrophy 19	18
1763	c	CHR665	Choroidal Dystrophy, Central Areolar, 3	18
1764		DST044	Distal Trisomy 14q	18
1765		MCR317	Macrophthalmia, Colobomatous, with Microcornea	18
1766	c	EPL237	Epileptic Encephalopathy, Early Infantile, 72	18
1767	c	GLL046	Galloway-Mowat Syndrome 7	18
1768	c	LPR017	Leprosy 5	17
1769		EPB002	Epiblepharon	17
1770	c	WRD026	Waardenburg Syndrome, Type 2c	17
1771		PHC002	Phacogenic Glaucoma	17
1772		CLB008	Coloboma of Eye Lens	17
1773	c	MSC139	Mosaic Variegated Aneuploidy Syndrome 3	17
1774	c	SPS024	Spastic Paraplegia 14	17
1775		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	17
1776		CCT003	Cicatricial Entropion	17
1777	c	MCR335	Microphthalmia, Isolated, with Coloboma 4	17
1778		SCL008	Scleromalacia Perforans	17
1779	c	NNP017	Nanophthalmos 1	17
1780		NMN008	Niemann-Pick Disease Type C, Severe Perinatal Form	17
1781		IGG009	Igg4-Related Ophthalmic Disease	17
1782	c	NYS003	Nystagmus 2, Congenital, Autosomal Dominant	17
1783	c	TRN062	Transient Neonatal Myasthenia Gravis	17
1784		AQS001	Aqueous Misdirection	17
1785	c	GLL047	Galloway-Mowat Syndrome 8	17
1786	c	SX2003	Six2-Related Frontonasal Dysplasia	17
1787		ERL040	Early-Onset Sutural Cataract	17
1788		MNF001	Monofixation Syndrome	17
1789		BLP011	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	17
1790	c	ART054	Arthrogryposis, Distal, Type 2e	17
1791	c	GLC089	Glaucoma 3, Primary Congenital, E	17
1792		MCR330	Microphthalmia, Isolated, with Cataract 1	17
1793	c	SRC024	Sarcoidosis 3	17
1794		PLS001	Pulsating Exophthalmos	17
1795		PRG116	Progressive Supranuclear Palsy-Corticobasal Syndrome	17
1796	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	17
1797		DST036	Distal Trisomy 15q	17
1798	c	ANT087	Anterior Segment Dysgenesis 6	17
1799	c	MCL026	Macular Dystrophy, Retinal, 3	17
1800		OPH014	Ophthalmomandibulomelic Dysplasia	17
1801		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	17
1802	c	NYS012	Nystagmus 5, Congenital, X-Linked	17
1803	c	ART156	Arthrogryposis, Distal, Type 2b2	17
1804	c	NYS013	Nystagmus 6, Congenital, X-Linked	17
1805	c	HNT014	Huntington Disease-Like Syndrome Due to C9orf72 Expansions	17
1806	c	ART157	Arthrogryposis, Distal, Type 2b3	16
1807		PTS017	Ptosis, Strabismus, and Ectopic Pupils	16
1808		PHC015	Phacoanaphylactic Uveitis	16
1809	c	HYP551	Hypotrichosis 9	16
1810	c	CRN279	Cornea Plana 1, Autosomal Dominant	16
1811		BLT023	Bilateral Acute Depigmentation of the Iris	16
1812		ESS005	Essential Iris Atrophy	16
1813		BLN008	Blind Hypotensive Eye	16
1814	c	HYP832	Hypotrichosis 14	16
1815		NSL017	Nasolacrimal Duct Cyst	16
1816		8Q1001	8q12 Microduplication Syndrome	16
1817		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	16
1818		HRD017	Hordeolum Externum	16
1819	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	16
1820	c	KRT075	Keratoconus 9	16
1821		INF053	Infantile Spasms Broad Thumbs	16
1822		ISL067	Isolated Congenital Megalocornea	16
1823	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	16
1824		ORB003	Orbital Tenonitis	16
1825	c	HNT013	Huntington Disease-Like Syndrome	16
1826		CNJ002	Conjunctival Folliculosis	16
1827	c	NYS005	Nystagmus 4, Congenital, Autosomal Dominant	16
1828		EXP003	Exophthalmic Ophthalmoplegia	16
1829		ERL037	Early-Onset Lamellar Cataract	16
1830		CLM004	Climatic Droplet Keratopathy	16
1831		WHT005	White Forelock with Malformations	16
1832		RDL029	Radial Ray Hypoplasia with Choanal Atresia	16
1833	c	TYS005	Tay-Sachs Disease, B1 Variant	16
1834	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	16
1835		MNS013	Monosomy 13q34	16
1836	P	GLC100	Glaucoma 1, Open Angle, D	16
1837		NCL001	Nuclear Senile Cataract	16
1838	c	GLC052	Glaucoma 3, Primary Congenital, C	16
1839		AST004	Astereognosia	16
1840		HYP667	Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	16
1841		AMR007	Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis	16
1842	c	HYP544	Hypotrichosis 10	16
1843		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
1844	c	GLC099	Glaucoma 1, Primary Open Angle, C	15
1845	c	CRN218	Corneal Dystrophy, Fuchs Endothelial, 8	15
1846		PDT013	Pediatric Extraocular Retinoblastoma	15
1847		INH013	Inhalational Botulism	15
1848		HYD049	Hydrocephalus with Cerebellar Agenesis	15
1849		PDT010	Pediatric Intraocular Retinoblastoma	15
1850	c	MCR338	Microphthalmia, Isolated, with Coloboma 1	15
1851	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	15
1852	c	MTC014	Mitochondrial Dna Deletion Syndromes	15
1853		DST082	Distal Trisomy 10q	15
1854		EPT023	Epithelial and Subepithelial Dystrophy	15
1855		VNB001	Van Benthem-Driessen-Hanveld Syndrome	15
1856	c	LPR020	Leprosy 6	15
1857		RTC011	Reticular Dystrophy of Retinal Pigment Epithelium	15
1858		PRL006	Paralytic Lagophthalmos	15
1859	c	LPR016	Leprosy 4	15
1860		EPT024	Epithelial-Stromal Tgfbi Dystrophy	15
1861	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	15
1862	c	SPS040	Spastic Paraplegia 5b	15
1863	c	MCR346	Microphthalmia, Isolated, with Coloboma 2	15
1864	c	GLC101	Glaucoma 1, Open Angle, B	14
1865		MCR242	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	14
1866	c	ACQ026	Acquired Pseudoxanthoma Elasticum	14
1867		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	14
1868		CNG067	Congenital Cystic Eye	14
1869	c	SPS230	Spastic Paraplegia Type 49	14
1870		CNT088	Central Cloudy Dystrophy of Francois	14
1871		DSS005	Dissociated Nystagmus	14
1872		VCL007	Vocal Cord Paralysis and Ptosis	14
1873	c	GLC060	Glaucoma 1, Open Angle, G	14
1874	c	NYS004	Nystagmus 3, Congenital, Autosomal Dominant	14
1875	c	ATS413	Autosomal Recessive Anterior Segment Dysgenesis	14
1876		PRS110	Persistent Placoid Maculopathy	14
1877		CRT080	Cortical Blindness, Retardation, and Postaxial Polydactyly	14
1878		CYC003	Cyclotropia	14
1879	c	RTN208	Retinopathy, Pericentral Pigmentary, Autosomal Recessive	14
1880	c	GLC051	Glaucoma 1, Open Angle, M	14
1881	c	GRN044	Granulomatous Disease, Chronic, Autosomal Dominant Type	14
1882	c	DNS004	Duane Syndrome Type 2	14
1883	c	GLC104	Glaucoma 1, Open Angle, O	14
1884		MCR070	Microcornea, Glaucoma, and Absent Frontal Sinuses	14
1885		NND003	Non-Distal Trisomy 10q	14
1886		MYC004	Mycotic Corneal Ulcer	14
1887	c	PSD023	Pseudo-Gaucher Disease	14
1888		GNR029	Generalized Galactose Epimerase Deficiency	14
1889	P	RTN200	Retinopathy, Pericentral Pigmentary, Dominant	14
1890		ARC020	Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	13
1891	c	SPS165	Spastic Paraplegia 47	13
1892		TRP011	Triopia	13
1893	c	CTR176	Cataract, Age-Related Nuclear	13
1894		ANR041	Aniridia-Intellectual Disability Syndrome	13
1895		EYC003	Eye Accommodation Disease	13
1896		ACR078	Acral Self-Healing Collodion Baby	13
1897		ORB018	Orbital Leiomyoma	13
1898	P	DNS003	Duane Syndrome Type 1	13
1899	c	GLC076	Glaucoma 1, Open Angle, H	13
1900		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	13
1901	c	GLC103	Glaucoma 1, Open Angle, K	13
1902	c	KMT002	Kmt2b-Related Dystonia	13
1903		NND004	Non-Distal Monosomy 10q	13
1904		SCL050	Scoliosis, Arachnodactyly, and Blindness	13
1905		ANG003	Angelucci's Syndrome	13
1906	c	FRM005	Frmd7-Related Infantile Nystagmus	13
1907		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	13
1908	c	ACT030	Acute Dacryoadenitis	13
1909	c	INF152	Infectious Posterior Uveitis	13
1910		CNG335	Congenital Ectropion Uveae	13
1911	P	IDP065	Idiopathic Macular Telangiectasia Type 1	13
1912	c	NYS016	Nystagmus 7, Congenital, Autosomal Dominant	13
1913		ERL036	Early-Onset Posterior Subcapsular Cataract	12
1914		ETH013	Euthyroid Graves Orbitopathy	12
1915		PRD026	Pre-Descemet Corneal Dystrophy	12
1916		CLF040	Cleft Lip-Retinopathy Syndrome	12
1917		ISL131	Isolated Foveal Hypoplasia	12
1918		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	12
1919	c	HLL012	Hallermann-Streiff-Like Syndrome	12
1920		APP006	Apperceptive Agnosia	12
1921	c	SCL053	Sclerocornea, Autosomal Dominant	12
1922		PRG115	Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome	12
1923		TXN001	Toxin-Mediated Infectious Botulism	12
1924	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	12
1925		HST002	Histoplasmosis Retinitis	12
1926		PRG117	Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome	12
1927	c	ACQ002	Acquired Night Blindness	12
1928		ISL128	Isolated Microspherophakia	12
1929	c	RTN201	Retinoschisis, Autosomal Dominant	12
1930	c	B3G001	B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	12
1931		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	12
1932		PRP103	Peripapillary Staphyloma	12
1933		BRD008	Borderline Glaucoma	12
1934	c	NNP008	Nanophthalmos 3	12
1935		CRN002	Corneal Argyrosis	12
1936	c	GRD008	Grid2-Related Spinocerebellar Ataxia	12
1937		THY013	Thyrotoxic Exophthalmos	12
1938		NDL008	Nodular Episcleritis	11
1939		SVR082	Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	11
1940		CNG400	Congenital Hereditary Endothelial Dystrophy Type I	11
1941	P	GLC102	Glaucoma 1, Open Angle, J	11
1942	P	ACT070	Acute Inflammation of Lacrimal Passage	11
1943		INT176	Intraocular Medulloepithelioma	11
1944		PSD006	Pseudopterygium	11
1945	P	ACT026	Acute Canaliculitis	11
1946	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	11
1947	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	11
1948		INT026	Intermittent Proptosis	11
1949		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	11
1950	c	SPR048	Supranuclear Palsy, Progressive, 3	11
1951	c	GM2001	Gm2 Gangliosidosis, 0 Variant	11
1952		CNG357	Congenital Symblepharon	11
1953		MCH001	Mechanical Ectropion	11
1954	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	10
1955		HMN007	Hemangioma of Orbit	10
1956		PRT027	Partial Arterial Retinal Occlusion	10
1957	c	CHR035	Chronic Dacryoadenitis	10
1958		ERY041	Erythrocyte Galactose Epimerase Deficiency	10
1959		TRN010	Transient Retinal Arterial Occlusion	10
1960		OPH003	Ophthalmia Nodosa	10
1961		TRR003	Terrien Marginal Degeneration	10
1962	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	10
1963		INF115	Infectious Epithelial Keratitis	10
1964		ISL065	Isolated Congenital Alacrima	10
1965		CNT011	Contact Blepharoconjunctivitis	10
1966	P	VRC007	Varicella, Severe Recurrent	10
1967	c	GLC080	Glaucoma 1, Open Angle, N	10
1968	c	LTN017	Late-Infantile/juvenile Krabbe Disease	10
1969		ACT168	Acute Annular Outer Retinopathy	10
1970		HYP062	Hypopyon Ulcer	10
1971		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
1972		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	10
1973		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
1974		SNS024	Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	9
1975	c	ERL039	Early-Onset Anterior Polar Cataract	9
1976	c	PRS137	Persistent Hyperplastic Primary Vitreous, Autosomal Dominant	9
1977	c	CNG433	Congenital Cornea Plana	9
1978		STP001	Staphyloma Posticum	9
1979		EQT001	Equatorial Staphyloma	9
1980	c	CHR061	Chronic Canaliculitis	9
1981	c	TYS006	Tay-Sachs Disease, B Variant, Adult Form	9
1982		ULC003	Ulcerative Blepharitis	9
1983	c	GLC032	Glaucoma, Hereditary	9
1984	c	FBL003	Fbln5-Related Cutis Laxa	9
1985	c	ADL071	Adult Krabbe Disease	9
1986		GNC009	Gonococcal Seminal Vesiculitis	9
1987		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
1988		MRG002	Marginal Corneal Ulcer	9
1989		CCT004	Cicatricial Lagophthalmos	9
1990	c	CNT026	Central Corneal Ulcer	9
1991	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	9
1992		BLL005	Bullous Retinoschisis	9
1993	c	NYS019	Nystagmus, Congenital, Autosomal Recessive	9
1994	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	9
1995	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	9
1996		DST090	Distal Trisomy 2p	9
1997	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	9
1998		MNM005	Minimal Pigment Oculocutaneous Albinism Type 1	8
1999		INV017	Inverse Marcus-Gunn Phenomenon	8
2000	c	GLL043	Galloway-Mowat Syndrome 2	8
2001		STR016	Steroid-Induced Glaucoma - Borderline	8
2002	c	IDP048	Idiopathic Posterior Uveitis	8
2003		IDP047	Idiopathic Panuveitis	8
2004		INT008	Intermittent Squint	8
2005		MRN008	Marin-Amat Syndrome	8
2006		TTN002	Tetanic Cataract	8
2007		NDL004	Nodular Degeneration of Cornea	8
2008	c	ALP056	Alpha-Mannosidosis, Adult Form	8
2009	c	ALP055	Alpha-Mannosidosis, Infantile Form	8
2010		BRW005	Brawny Scleritis	8
2011	c	SDR001	Siderosis of Eye	8
2012		ORB005	Orbital Periostitis	8
2013	P	ANT012	Anterior Dislocation of Lens	8
2014		NBL002	Noble Bass Sherman Syndrome	8
2015		3Q2004	3q26 Microduplication Syndrome	8
2016		PLZ007	Pelizaeus-Merzbacher Disease, Classic Form	8
2017		ABN004	Abnormal Pupillary Function	8
2018		TRN011	Transient Refractive Change	8
2019		MLT117	Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	8
2020		PHK009	Phakomatosis Cesiomarmorata	8
2021		OKH001	Okihiro Syndrome Due to a Point Mutation	8
2022		LNS002	Lens-Induced Iridocyclitis	7
2023		MCR069	Microcornea Corectopia Macular Hypoplasia	7
2024	P	JVN036	Juvenile Sialidosis Type 2	7
2025	c	CNG348	Congenital Sialidosis Type 2	7
2026		CNJ011	Conjunctival Deposit	7
2027		TRS020	Tarsal Kink Syndrome	7
2028		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	7
2029		FND005	Fundus Pulverulentus	7
2030	c	DNS005	Duane Syndrome Type 3	7
2031	c	IDP066	Idiopathic Macular Telangiectasia Type 3	7
2032	c	SJG003	Sjogren-Larsson-Like Syndrome	7
2033		ACQ003	Acquired Tear Duct Stenosis	7
2034		CNJ008	Conjunctival Concretion	7
2035		PHL004	Phlegmonous Dacryocystitis	7
2036	c	PST025	Posterior Dislocation of Lens	7
2037	c	PST012	Posterior Corneal Pigmentation	7
2038		STB001	Stable Condition Keratoconus	7
2039		ANG010	Angular Blepharoconjunctivitis	7
2040		LXT001	Luxation of Globe	7
2041		PLZ008	Pelizaeus-Merzbacher Disease, Transitional Form	7
2042		IDP043	Idiopathic Uveal Effusion Syndrome	7
2043		PHK010	Phakomatosis Spilorosea	7
2044		SPS001	Spastic Ectropion	7
2045		KRS001	Krauss Herman Holmes Syndrome	7
2046	P	SMN001	Seminal Vesicle Acute Gonorrhea	7
2047	c	SMN004	Seminal Vesicle Chronic Gonorrhea	7
2048		CRT003	Cortical Senile Cataract	7
2049		STN002	Stenosis of Lacrimal Punctum	7
2050		SCL005	Scleroperikeratitis	6
2051		HYP023	Hypersecretion Glaucoma	6
2052	P	ANT008	Anterior Corneal Pigmentation	6
2053		SQM003	Squamous Blepharitis	6
2054	c	MCR282	Microcephaly and Chorioretinopathy 1	6
2055	c	MCR283	Microcephaly and Chorioretinopathy 2	6
2056	c	MCR284	Microcephaly and Chorioretinopathy 3	6
2057		RNG002	Ring Corneal Ulcer	6
2058		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
2059		DBL001	Double Pterygium	6
2060	c	CHR088	Chronic Inflammation of Lacrimal Passage	6
2061		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	6
2062		VTR004	Vitreous Abscess	6
2063		MCH004	Mechanical Entropion	6
2064		RTN189	Retinal Capillary Malformation	6
2065	c	OCL037	Oculodentodigital Dysplasia Dominant	6
2066		DSS001	Disseminated Chorioretinitis	6
2067		MNC005	Monocular Exotropia	6
2068		PLZ009	Pelizaeus-Merzbacher Disease in Female Carriers	6
2069		STN003	Stenosis of Lacrimal Passage	6
2070		ACT005	Acute Hydrops Keratoconus	6
2071		ERL041	Early-Onset Zonular Cataract	6
2072		CNJ015	Conjunctivitis with Pseudomembrane	6
2073		CMP057	Complete Cryptophthalmia	6
2074	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	5
2075	c	GLC035	Glaucoma, Primary Infantile Type 3a	5
2076	c	GLC033	Glaucoma, Hereditary Adult Type 1a	5
2077	c	GLC029	Glaucoma Type 1c	5
2078		RSD002	Residual Stage of Open Angle Glaucoma	5
2079		PRP014	Peripheral Degeneration of Cornea	5
2080	c	SCN004	Secondary Vitreoretinal Degeneration	5
2081		RSD001	Residual Stage Angle-Closure Glaucoma	5
2082		LCR003	Lacrimal Passage Granuloma	5
2083	c	SCN003	Secondary Corneal Edema	5
2084		ABN003	Abnormal Threshold of Rods	5
2085		LTR005	Lateral Displacement of Eye	5
2086		EPS002	Episcleritis Periodica Fugax	5
2087		GNC007	Gonococcal Keratitis	5
2088		BWM001	Bowman's Membrane Folds or Rupture	5
2089		PRM009	Primary Eye Hypotony	5
2090		MCL004	Macular Keratitis	5
2091		MYT001	Myotonic Cataract	5
2092		LCL001	Localized Anterior Staphyloma	5
2093		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	5
2094		CNT008	Contact Lens Corneal Edema	5
2095	c	ATS022	Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract	5
2096		SPP006	Suppurative Uveitis	5
2097	P	PRM007	Primary Lacrimal Atrophy	5
2098		DMR001	De Morsier's Syndrome Information	5
2099		PRP012	Peripheral Focal Chorioretinitis	5
2100		TTL003	Total Circumpapillary Dystrophy of Choroid	5
2101		GRY003	Grayson-Wilbrandt Corneal Dystrophy	5
2102		CNT022	Central Gyrate Choroidal Dystrophy	5
2103		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	5
2104		PRG012	Progressive Peripheral Pterygium	5
2105		STN001	Stenosis of Lacrimal Sac	5
2106		ISL071	Isolated Congenital Ectropion	5
2107		RTN009	Retinal Dystrophies Primarily Involving Bruch's Membrane	5
2108		ERL027	Early-Onset Non-Syndromic Cataract	5
2109		PRT091	Partial Cryptophthalmia	5
2110		ERL042	Early-Onset Partial Cataract	5
2111		CNS003	Constant Exophthalmos	4
2112		EVR001	Eversion of Lacrimal Punctum	4
2113		DFF008	Diffuse Secondary Choroid Atrophy	4
2114	P	CHR168	Chorioretinopathy Dominant Form Microcephaly	4
2115	c	FRG006	Fragile X Syndrome Type 3	4
2116	P	EPP001	Epiphora Due to Insufficient Drainage	4
2117	c	SCN002	Secondary Lacrimal Atrophy	4
2118	c	MCR048	Microcephaly Chorioretinopathy Recessive Form	4
2119		RNG001	Ring Staphyloma	4
2120	c	EPP002	Epiphora Due to Excess Lacrimation	4
2121	c	FRG004	Fragile X Syndrome Type 1	4
2122	P	LGB001	Leg Absence Deformity Cataract	4
2123		MCH005	Mechanical Lagophthalmos	4
2124	c	MCR059	Microcephaly with Chorioretinopathy, Autosomal Dominant Form	4
2125	c	FRG005	Fragile X Syndrome Type 2	4
2126		GNC004	Gonococcal Iridocyclitis	4
2127		SMP002	Simple Chronic Conjunctivitis	4
2128		GNC008	Gonococcal Endophthalmia	4
2129		DYS010	Dystrophies Primarily Involving the Retinal Pigment Epithelium	4
2130		SNL006	Senile Atrophy of Choroid	4
2131		PRT016	Partial Circumpapillary Choroid Dystrophy	4
2132		RSD003	Residual Stage Corticosteroid-Induced Glaucoma	4
2133		THY120	Thygeson Superficial Punctate Keratopathy	4
2134		RSC002	Rosacea Conjunctivitis	4
2135		ANG008	Angioid Streaks of Choroid	4
2136		FLT003	Flat Retinoschisis	4
2137		IDP050	Idiopathic Linear Interstitial Keratitis	4
2138		PHT005	Phthisical Cornea	4
2139		CNT006	Central Pterygium	4
2140		BLN007	Blind Hypertensive Eye	4
2141		PRS026	Parasitic Conjunctivitis	4
2142		PHL002	Philophthalmiasis	4
2143		INT284	Intellectual Disability-Cataracts-Kyphosis Syndrome	4
2144		ISL126	Isolated Iridoschisis	4
2145		ISL132	Isolated Megalopapilla	4
2146		ISL127	Isolated Blepharochalasis	4
2147		ANT015	Anatomical Narrow Angle Borderline Glaucoma	4
2148		ATS361	Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome	4
2149		ISL130	Isolated Congenital Entropion	4
2150		RTN007	Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses	4
2151		PRN060	Paraneoplastic Uveitis	3
2152		PPL048	Papillorenal Syndrome	50
2153	P	RTN024	Retinoblastoma	72
2154		OPT008	Optic Nerve Neoplasm	38
2155	c	FML008	Familial Retinoblastoma	34
2156		RTN015	Retinal Cancer	52
2157	c	HRD094	Hereditary Motor and Sensory Neuropathy, Type Iic	42
2158	P	NRP059	Neuropathy, Hereditary Motor and Sensory, Type Via	34
2159	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	31
2160	c	HRD138	Hereditary Motor and Sensory Neuropathy V	31
2161	c	GDP003	Gdap1-Related Hereditary Motor and Sensory Neuropathy	7
2162		ECZ002	Eczema Herpeticum	49
2163	P	EXD001	Exudative Vitreoretinopathy	50
2164		OPT007	Optic Nerve Glioma	44
2165		CRT082	Cortical Dysplasia, Complex, with Other Brain Malformations 8	22
2166		MRC002	Marcus Gunn Phenomenon	53
2167		ACR012	Aicardi Syndrome	47
2168	P	MCR241	Microphthalmia, Syndromic 3	42
2169		NRP045	Neuropathy, Ataxia, and Retinitis Pigmentosa	37
2170		WYB002	Wyburn-Mason Syndrome	31
2171		RTN011	Retina Lymphoma	29
2172		OCL009	Ocular Cancer	61
2173	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	52
2174		ELS001	Eales Disease	51
2175	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	49
2176		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	49
2177	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	46
2178	P	NRD007	Neurodegeneration with Brain Iron Accumulation	45
2179	c	CRD184	Ceroid Lipofuscinosis, Neuronal, 5	44
2180	P	BLP047	Blepharocheilodontic Syndrome 1	44
2181	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	44
2182	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	43
2183	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	39
2184	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	39
2185	c	CRD239	Ceroid Lipofuscinosis, Neuronal, 13	37
2186	c	CRD225	Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant	30
2187	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	20
2188	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	20
2189		ACR006	Aceruloplasminemia	73
2190	P	MCH002	Machado-Joseph Disease	63
2191	P	HRM001	Hermansky-Pudlak Syndrome	63
2192	c	CRD177	Ceroid Lipofuscinosis, Neuronal, 1	60
2193	c	USH036	Usher Syndrome, Type I	59
2194	c	HRM005	Hermansky-Pudlak Syndrome 1	54
2195		KNS001	Kniest Dysplasia	54
2196		BLL003	Bell's Palsy	53
2197	c	HRM008	Hermansky-Pudlak Syndrome 5	52
2198		OCL008	Oculopharyngeal Muscular Dystrophy	52
2199	c	HRM006	Hermansky-Pudlak Syndrome 3	51
2200	c	HRM017	Hermansky-Pudlak Syndrome 2	51
2201	c	CRD185	Ceroid Lipofuscinosis, Neuronal, 6	49
2202	c	HRM009	Hermansky-Pudlak Syndrome 6	44
2203	c	CRD179	Ceroid Lipofuscinosis, Neuronal, 7	43
2204	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	42
2205	c	HRM011	Hermansky-Pudlak Syndrome 8	39
2206	c	HRM007	Hermansky-Pudlak Syndrome 4	38
2207	c	HRM012	Hermansky-Pudlak Syndrome 9	37
2208	c	HRM010	Hermansky-Pudlak Syndrome 7	35
2209		FCL045	Focal Facial Dermal Dysplasia 3, Setleis Type	31
2210	c	NRP043	Neuropathy, Hereditary Motor and Sensory, Type Vib	28
2211		ENC047	Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum	25
2212		WBB001	Webb-Dattani Syndrome	22
2213	c	MCH013	Machado-Joseph Disease Type 3	19
2214	c	MCH014	Machado-Joseph Disease Type 2	19
2215	c	MCH012	Machado-Joseph Disease Type 1	19
2216		ATX047	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation	15
2217	c	EXD008	Exudative Vitreoretinopathy 1	72
2218	P	CNG001	Congenital Myasthenic Syndrome	66
2219		CHR103	Charge Syndrome	61
2220		INT030	Intracranial Aneurysm	59
2221		RRR001	Rere-Related Disorders	59
2222	c	SPN294	Spinocerebellar Ataxia 1	59
2223	P	SPN301	Spinocerebellar Ataxia 2	59
2224		PBL005	Piebald Trait	58
2225		TXC002	Toxic Encephalopathy	57
2226		SPN008	Spondyloepiphyseal Dysplasia Congenita	57
2227	P	OCL002	Oculocutaneous Albinism	54
2228		RTN020	Retinal Vascular Disease	54
2229	c	SPN291	Spinocerebellar Ataxia 7	53
2230		FLR001	Filarial Elephantiasis	53
2231	c	SPN314	Spinocerebellar Ataxia 10	51
2232	c	SPN296	Spinocerebellar Ataxia 17	48
2233	c	USH037	Usher Syndrome, Type Iia	47
2234	c	MYS051	Myasthenic Syndrome, Congenital, 5	47
2235	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	47
2236	c	SPN311	Spinocerebellar Ataxia 13	46
2237	c	SPN097	Spinocerebellar Ataxia 23	45
2238	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	44
2239	c	SPN290	Spinocerebellar Ataxia 15	43
2240	c	SPN305	Spinocerebellar Ataxia 11	42
2241	c	SPN265	Spinocerebellar Ataxia 36	42
2242	c	SPN283	Spinocerebellar Ataxia 37	41
2243	c	SPN304	Spinocerebellar Ataxia 8	41
2244	c	SPN106	Spinocerebellar Ataxia 5	41
2245	c	MYS052	Myasthenic Syndrome, Congenital, 10	39
2246	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	39
2247	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	39
2248	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	38
2249	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	37
2250	c	SPN094	Spinocerebellar Ataxia 18	37
2251	c	CRD226	Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive	37
2252	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	35
2253	c	SPN101	Spinocerebellar Ataxia 29	35
2254	c	SPN095	Spinocerebellar Ataxia 19	35
2255	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	35
2256	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	34
2257	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	34
2258	c	SPN266	Spinocerebellar Ataxia 35	34
2259	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	34
2260	c	MYS075	Myasthenic Syndrome, Congenital, 13	34
2261		INF129	Infantile Cerebellar-Retinal Degeneration	33
2262	c	SPN096	Spinocerebellar Ataxia 21	33
2263	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	33
2264	c	SPN105	Spinocerebellar Ataxia 4	33
2265	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	33
2266	c	SPN383	Spinocerebellar Ataxia 42	32
2267		EXD009	Exudative Vitreoretinopathy 2, X-Linked	32
2268	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	32
2269	c	SPN104	Spinocerebellar Ataxia 34	31
2270	c	SPN284	Spinocerebellar Ataxia 38	31
2271	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	30
2272	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	30
2273	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	30
2274	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	28
2275		SPN151	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	28
2276	c	SPN372	Spinocerebellar Ataxia 43	27
2277		TTR024	Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities	26
2278	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
2279	c	MYS074	Myasthenic Syndrome, Congenital, 12	25
2280	c	SPN420	Spinocerebellar Ataxia 46	25
2281	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	24
2282	c	SPN427	Spinocerebellar Ataxia 48	24
2283	c	MYS070	Myasthenic Syndrome, Congenital, 19	22
2284	c	MYS065	Myasthenic Syndrome, Congenital, 18	22
2285		ABS003	Absence of Septum Pellucidum	17
2286		RTN010	Retinal Melanoma	9
2287	P	MCR373	Mecr-Related Neurologic Disorder	7
2288		FML160	Familial Spastic Paralysis	6
2289	c	ATP015	Atp1a3-Related Neurologic Disorders	3
2290		OPT027	Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia	3
2291		OPT022	Optic Atrophy 1 and Deafness	3
2292		WRN001	Werner Syndrome	73
2293	c	MYT021	Myotonic Dystrophy 1	71
2294		DWN001	Down Syndrome	71
2295		CRB037	Cerebral Palsy	71
2296	P	MCR115	Microvascular Complications of Diabetes 5	70
2297	P	CHR012	Chronic Granulomatous Disease	69
2298	P	CWD010	Cowden Syndrome	68
2299		SCH036	Scheie Syndrome	67
2300	c	NMN015	Niemann-Pick Disease, Type C1	67
2301		LGH007	Leigh Syndrome	67
2302		NVS017	Nevus, Epidermal	66
2303	P	DYS154	Dystonia	65
2304		GLC006	Galactosemia	65
2305	c	MCP001	Mucopolysaccharidosis Iii	63
2306	P	BRD002	Bardet-Biedl Syndrome	63
2307	c	ATS013	Autosomal Recessive Congenital Ichthyosis	62
2308	c	MSC036	Muscular Dystrophy-Dystroglycanopathy , Type C, 5	62
2309	c	MCP052	Mucopolysaccharidosis, Type Vi	61
2310		NRM019	Neuraminidase Deficiency	60
2311	P	MLN069	Melanoma, Uveal	60
2312	c	INS002	in Situ Carcinoma	60
2313	P	NRN021	Neuronal Ceroid Lipofuscinosis	60
2314		DBT010	Diabetic Neuropathy	60
2315	c	BRD014	Bardet-Biedl Syndrome 2	60
2316	c	MCP004	Mucopolysaccharidosis Iv	59
2317	P	EPS003	Episodic Ataxia	59
2318	c	BRD010	Bardet-Biedl Syndrome 1	59
2319	c	ORF040	Orofaciodigital Syndrome Viii	59
2320	c	MCR113	Microvascular Complications of Diabetes 3	58
2321	c	EPS042	Episodic Ataxia, Type 1	58
2322	P	SPN429	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2	58
2323	P	OST080	Osteogenesis Imperfecta, Type Ii	58
2324	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	58
2325	c	OST122	Osteogenesis Imperfecta, Type Iii	58
2326	c	LYS021	Loeys-Dietz Syndrome 3	57
2327		ICH054	Ichthyosis, X-Linked	57
2328	P	SHR029	Short Syndrome	57
2329		YMN001	Yemenite Deaf-Blind Hypopigmentation Syndrome	57
2330	c	EPS035	Episodic Ataxia, Type 2	57
2331	c	OST135	Osteogenesis Imperfecta, Type I	57
2332		CLS005	Clouston Syndrome	56
2333	P	PLC011	Pilocytic Astrocytoma	56
2334		LKN001	Leukoencephalopathy with Vanishing White Matter	56
2335		HMN009	Hemangioblastoma	55
2336	c	CHR320	Chiari Malformation Type I	55
2337		RLP001	Relapsing Polychondritis	55
2338	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	54
2339		SPN209	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	54
2340	P	STS008	Sotos Syndrome 1	54
2341	P	RTN022	Retinal Vein Occlusion	54
2342	P	EPD009	Epidermolysis Bullosa Dystrophica	54
2343	P	BRT029	Brittle Cornea Syndrome 2	54
2344		NLP001	Nail-Patella Syndrome	54
2345		ONC002	Onchocerciasis	54
2346	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	53
2347		ALL009	Allergic Conjunctivitis	53
2348		HYP691	Hypomelanosis of Ito	53
2349		VTM028	Vitamin E, Familial Isolated Deficiency of	52
2350	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
2351	P	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	52
2352	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	52
2353		PTS001	Patau Syndrome	52
2354	c	MCR256	Microphthalmia, Syndromic 9	52
2355	c	CCK008	Cockayne Syndrome a	51
2356		CGN006	Cogan Syndrome	51
2357		INT054	Intraocular Lymphoma	51
2358		ANC001	Ancylostomiasis	50
2359		MCL027	Macular Dystrophy, Dominant Cystoid	50
2360		PTT004	Pituitary Apoplexy	50
2361		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	50
2362	c	CNT016	Central Retinal Vein Occlusion	50
2363	c	HNT010	Huntington Disease-Like 1	50
2364	P	ISL078	Isolated Ectopia Lentis	50
2365		OCL069	Ocular Motor Apraxia	49
2366	c	ICH047	Ichthyosis, Congenital, Autosomal Recessive 1	49
2367		CHR222	Chromosome 1p36 Deletion Syndrome	49
2368		INF006	Infant Botulism	49
2369	c	SPN309	Spinocerebellar Ataxia 6	49
2370		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	49
2371	c	OST121	Osteogenesis Imperfecta, Type Iv	49
2372	c	ORF034	Orofaciodigital Syndrome Vi	49
2373	c	CHR579	Chiari Malformation Type Ii	49
2374	c	LYS017	Loeys-Dietz Syndrome 4	48
2375	P	HRN001	Horner's Syndrome	48
2376	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	48
2377		JCB001	Jacobsen Syndrome	48
2378	c	BRD013	Bardet-Biedl Syndrome 12	48
2379		EPD061	Epidermolysis Bullosa, Junctional, Herlitz Type	48
2380	P	D2H002	D-2-Hydroxyglutaric Aciduria 1	48
2381		NRR001	Neuroretinitis	47
2382		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	47
2383		RTN001	Retinal Vasculitis	47
2384		CNT019	Central Neurocytoma	47
2385	c	BRD016	Bardet-Biedl Syndrome 4	47
2386		GLD006	Goldberg-Shprintzen Syndrome	47
2387	c	EPD076	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	46
2388		ATX029	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	46
2389		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	46
2390	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	46
2391		HMF008	Hemifacial Atrophy, Progressive	46
2392		LRN001	Laurence-Moon Syndrome	46
2393		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	46
2394	c	JVN009	Juvenile Pilocytic Astrocytoma	46
2395	P	CHR342	Chiari Malformation	46
2396	c	MCR120	Microvascular Complications of Diabetes 7	46
2397		CHN054	Chondrodysplasia, Blomstrand Type	45
2398		DPM001	Dopamine Beta-Hydroxylase Deficiency	45
2399		RTN021	Retinal Vascular Occlusion	45
2400		PST049	Postaxial Acrofacial Dysostosis	45
2401	c	HYP794	Hyperoxaluria, Primary, Type I	45
2402	c	PST022	Posterior Uveal Melanoma	45
2403		BRD001	Brody Myopathy	45
2404	c	LYS018	Loeys-Dietz Syndrome 2	44
2405	c	MCP047	Mucopolysaccharidosis, Type Iva	44
2406	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
2407	P	ANT088	Anterior Segment Dysgenesis	43
2408	c	MCR130	Microvascular Complications of Diabetes 6	43
2409	c	MCR133	Microvascular Complications of Diabetes 4	43
2410	c	ANT077	Anterior Segment Dysgenesis 1	43
2411	c	BRD015	Bardet-Biedl Syndrome 3	43
2412		APL002	Aplasia of Lacrimal and Salivary Glands	43
2413	c	SRC023	Sarcoidosis 2	43
2414		KDS001	Kid Syndrome	43
2415	c	MSC103	Muscular Dystrophy-Dystroglycanopathy , Type C, 4	42
2416	P	CNG436	Congenital Disorder of Deglycosylation	42
2417	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	42
2418		ABD002	Abducens Nerve Disease	42
2419	c	MCR112	Microvascular Complications of Diabetes 2	42
2420	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	42
2421		VNC001	Von Economo's Disease	42
2422		ACT012	Acute Hemorrhagic Conjunctivitis	42
2423		PLY052	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	42
2424		PRS055	Pierson Syndrome	42
2425	c	USH040	Usher Syndrome, Type Id	42
2426	P	OPT048	Opitz-Gbbb Syndrome	42
2427		BRT059	Bartsocas-Papas Syndrome	42
2428	P	SPS133	Spastic Paraplegia 2, X-Linked	42
2429		MBM001	Meibomian Cyst	41
2430	c	USH020	Usher Syndrome, Type Iic	41
2431	P	MRN003	Marinesco-Sjogren Syndrome	41
2432		ECT007	Ectodermal Dysplasia/skin Fragility Syndrome	41
2433		LCR013	Lacrimal Duct Defect	41
2434	c	ALB024	Albinism, Ocular, Type I	41
2435	c	DSB006	Desbuquois Dysplasia 1	40
2436	P	FRN036	Frontonasal Dysplasia 1	40
2437		MTC111	Mitochondrial Neurogastrointestinal Encephalomyopathy	40
2438		DPR002	Depersonalization Disorder	40
2439		PLS030	Plasminogen Deficiency, Type I	40
2440		BKR002	Baker-Gordon Syndrome	40
2441	c	HNT011	Huntington Disease-Like 3	40
2442		ARC007	Arachnoid Cysts	39
2443	c	EPS017	Episodic Ataxia, Type 6	39
2444	c	MSC108	Muscular Dystrophy-Dystroglycanopathy , Type C, 2	39
2445	c	USH039	Usher Syndrome, Type Ic	39
2446	c	STC015	Stickler Syndrome, Type I	39
2447		LYM043	Lymphocytic Hypophysitis	39
2448	c	ANT086	Anterior Segment Dysgenesis 2	39
2449		HYD001	Hydranencephaly	39
2450		MKL001	Mikulicz Disease	39
2451		CRN049	Craniolenticulosutural Dysplasia	39
2452	c	HYP602	Hyperoxaluria, Primary, Type Ii	38
2453		CNC014	Cancer-Associated Retinopathy	38
2454	c	ADL001	Adult Lymphoma	38
2455		VBR001	Vibratory Urticaria	37
2456	c	MSC100	Muscular Dystrophy-Dystroglycanopathy , Type C, 9	37
2457	c	CRD181	Ceroid Lipofuscinosis, Neuronal, 8	37
2458		PRK003	Parkes Weber Syndrome	37
2459		CHR410	Choroid Cancer	37
2460	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	37
2461	c	PRM023	Pre-Malignant Neoplasm	37
2462	P	NNN028	Noonan Syndrome-Like Disorder with Loose Anagen Hair 1	37
2463		MLG070	Malignant Iris Melanoma	37
2464		RHM032	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis	36
2465	P	CLC057	Cole-Carpenter Syndrome	36
2466		DNC004	Diencephalic Syndrome	36
2467		BSM002	Bosma Arhinia Microphthalmia Syndrome	36
2468		NRS005	Neurosarcoidosis	36
2469	c	ALB025	Albinism, Ocular, with Late-Onset Sensorineural Deafness	36
2470	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	35
2471		TLS001	Tolosa-Hunt Syndrome	35
2472		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	35
2473	c	ADM005	Adams-Oliver Syndrome 1	35
2474	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	35
2475	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	35
2476	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	35
2477	P	PRS013	Prosopagnosia	35
2478	P	SCH017	Schindler Disease	35
2479	c	MCP048	Mucopolysaccharidosis, Type Ivb	34
2480	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
2481	c	FML294	Familial Short Qt Syndrome	34
2482	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	34
2483	c	SCH069	Schindler Disease, Type I	34
2484	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	34
2485	c	MSC093	Muscular Dystrophy-Dystroglycanopathy , Type C, 3	34
2486	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	34
2487		MLG142	Malignant Conjunctival Melanoma	34
2488	c	HYP603	Hyperoxaluria, Primary, Type Iii	33
2489	c	BRT028	Brittle Cornea Syndrome 1	33
2490		PST036	Posterior Column Ataxia with Retinitis Pigmentosa	33
2491	c	ORT012	Orthostatic Hypotension 2	33
2492	c	EYL003	Eye Lymphoma	33
2493	c	ORF038	Orofaciodigital Syndrome Iii	32
2494		OCL048	Oculoauricular Syndrome	32
2495	c	HRD198	Hereditary Dystonia	32
2496		NRT011	Neurotrophic Keratopathy	32
2497		CNJ006	Conjunctival Intraepithelial Neoplasm	32
2498		LTH002	Lathosterolosis	32
2499		ATX019	Ataxia with Vitamin E Deficiency	32
2500	c	GCH013	Gaucher Disease, Type Iiic	32
2501	c	MCP046	Mucopolysaccharidosis, Type Iiid	32
2502		CNG041	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	32
2503	P	FRT001	Fourth Cranial Nerve Palsy	32
2504	c	SPN335	Spinocerebellar Ataxia Type 1 with Axonal Neuropathy	32
2505	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	31
2506	c	MSC111	Muscular Dystrophy-Dystroglycanopathy , Type C, 7	31
2507	c	EPS037	Episodic Ataxia, Type 4	31
2508		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	31
2509	c	SPN430	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1	31
2510	c	LKD018	Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	31
2511	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	30
2512	c	ALG016	Alagille Syndrome 2	30
2513		WND001	Wound Botulism	30
2514		3MT022	3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia	30
2515		BRN062	Burn-Mckeown Syndrome	30
2516	P	ALB023	Albinism, Ocular, with Sensorineural Deafness	30
2517		PLM156	Palmoplantar Carcinoma, Multiple Self-Healing	30
2518	c	EPS015	Episodic Ataxia, Type 7	30
2519	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	30
2520	c	CCK003	Cockayne Syndrome Type Ii	29
2521	c	CRN134	Cornelia De Lange Syndrome 2	29
2522		JBR007	Joubert Syndrome with Renal Anomalies	29
2523	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	29
2524	c	ANT084	Anterior Segment Dysgenesis 3	29
2525	c	ADM010	Adams-Oliver Syndrome 5	29
2526	c	ADM007	Adams-Oliver Syndrome 2	29
2527	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	29
2528		FML292	Familial Drusen	29
2529		IVC001	Ivic Syndrome	28
2530	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	28
2531		CRN021	Cornea Cancer	28
2532	c	JBR026	Joubert Syndrome 15	28
2533	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	28
2534	c	CNG133	Congenital Varicella Syndrome	28
2535	c	EPD071	Epidermolysis Bullosa Dystrophica, Autosomal Dominant	28
2536		CLF045	Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa	28
2537	c	MSC182	Muscular Dystrophy-Dystroglycanopathy , Type C, 15	28
2538		BLD161	Blood Group, Globoside System	28
2539		LGH013	Leigh Syndrome with Cardiomyopathy	27
2540	c	DYS162	Dystonia, Juvenile-Onset	27
2541	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	27
2542		EPL206	Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions	27
2543		BYL001	Baylisascariasis	27
2544	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	27
2545		CNJ009	Conjunctival Cancer	27
2546		CRN045	Corneal Dystrophy and Perceptive Deafness	27
2547		CYS045	Cystinosis, Adult Nonnephropathic	26
2548	c	MCR331	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	26
2549		HYP643	Hypohidrotic Ectodermal Dysplasia with Immunodeficiency	26
2550		NRD028	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies	26
2551	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	26
2552		MLG061	Malignant Choroid Melanoma	26
2553	c	CRN110	Cranioectodermal Dysplasia 3	26
2554	c	CRN111	Cranioectodermal Dysplasia 4	26
2555	c	JBR011	Joubert Syndrome 7	26
2556		MLN046	Melanoma-Associated Retinopathy	26
2557	c	LKD022	Leukodystrophy, Hypomyelinating, 13	26
2558		MTC036	Mitochondrial Membrane Protein-Associated Neurodegeneration	26
2559	P	PRM227	Primary Orthostatic Hypotension	25
2560		DFN256	Deafness and Myopia	25
2561	c	DFN331	Deafness, Congenital, with Onychodystrophy, Autosomal Dominant	25
2562		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	25
2563	c	PLM158	Palmoplantar Keratoderma and Congenital Alopecia 1	25
2564	P	HRZ002	Horizontal Gaze Palsy with Progressive Scoliosis	25
2565		EPP022	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	25
2566		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	25
2567	c	PLM149	Palmoplantar Keratoderma and Congenital Alopecia 2	25
2568	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	25
2569	c	EPS014	Episodic Ataxia, Type 3	25
2570		DYS096	Dyskeratosis, Hereditary Benign Intraepithelial	25
2571	P	INT006	Intestinal Botulism	24
2572		SLW006	Saul-Wilson Syndrome	24
2573	c	GZP005	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1	24
2574		BSL045	Basel-Vanagaite-Smirin-Yosef Syndrome	24
2575		RTN179	Retinal Arteries, Tortuosity of	24
2576	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	24
2577		MCR315	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	24
2578		EDC001	Edict Syndrome	24
2579	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	24
2580	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	24
2581		CNG466	Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	24
2582	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	24
2583	c	LNR016	Linear Skin Defects with Multiple Congenital Anomalies 2	24
2584	c	MCK026	Meckel Syndrome 12	24
2585	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	24
2586	c	CRB170	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2	23
2587		SPN047	Spindle Cell Intraocular Melanoma	23
2588	c	JBR035	Joubert Syndrome 24	23
2589		LKN017	Leukoencephalopathy with Ataxia	23
2590	c	CLC056	Cole-Carpenter Syndrome 1	23
2591		BRW002	Brown's Tendon Sheath Syndrome	23
2592	c	ERY054	Erythrokeratodermia Variabilis Et Progressiva 2	23
2593		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	23
2594	c	NLX003	Neu-Laxova Syndrome 2	23
2595	c	CNR041	Cone-Rod Dystrophy and Hearing Loss 2	23
2596	P	CNR040	Cone-Rod Dystrophy and Hearing Loss 1	23
2597	c	EPS034	Episodic Ataxia, Type 5	23
2598	c	MSC188	Muscular Dystrophy-Dystroglycanopathy , Type C, 8	23
2599		PTR030	Pterygium of Conjunctiva and Cornea	22
2600		SHR112	Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies	22
2601	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	22
2602	c	ADM009	Adams-Oliver Syndrome 4	22
2603	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	22
2604	c	ADM012	Adams-Oliver Syndrome 6	22
2605	c	ADM008	Adams-Oliver Syndrome 3	22
2606		RCS008	Recessive Dystrophic Epidermolysis Bullosa-Generalized Other	22
2607	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	22
2608		ATX037	Ataxia-Deafness-Retardation Syndrome	21
2609		PRT015	Partial Third-Nerve Palsy	21
2610		NRD031	Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination	21
2611	c	SNR016	Senior-Loken Syndrome 9	21
2612	c	JBR036	Joubert Syndrome 25	21
2613		MYC075	Myoclonus, Intractable, Neonatal	21
2614		JBR046	Jaberi-Elahi Syndrome	21
2615	c	EPS033	Episodic Ataxia, Type 8	20
2616		YHV001	You-Hoover-Fong Syndrome	20
2617		RTN145	Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis	20
2618		CRM007	Crome Syndrome	20
2619	c	MLT167	Multiple Mitochondrial Dysfunctions Syndrome 6	20
2620		LYM123	Lymphedema-Hypoparathyroidism Syndrome	20
2621	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	20
2622		ALG026	Al-Gazali Syndrome	20
2623		GRN016	Grant Syndrome	20
2624	c	SNR005	Senior-Loken Syndrome 5	20
2625		RRS002	Rare Isolated Myopia	20
2626		HRS003	Hirschsprung Disease Ganglioneuroblastoma	20
2627	c	ERY055	Erythrokeratodermia Variabilis Et Progressiva 3	19
2628		BRK013	Birk-Landau-Perez Syndrome	19
2629	c	RRM004	Rrm2b-Related Mitochondrial Dna Depletion Syndrome	19
2630	c	ERY056	Erythrokeratodermia Variabilis Et Progressiva 4	19
2631	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	19
2632		ANR043	Aniridia and Absent Patella	19
2633	c	ADL069	Adult Intestinal Botulism	19
2634		LCR012	Lacrimal System Cancer	19
2635		BRN125	Branchiogenic-Deafness Syndrome	19
2636	c	ATS072	Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia	19
2637	c	DNR004	Duane Retraction Syndrome 2	19
2638	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	19
2639		SPC024	Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease	18
2640	P	NMN012	Niemann-Pick Disease Type C, Juvenile Neurologic Onset	18
2641		LGH017	Leigh Syndrome with Nephrotic Syndrome	18
2642		CMP074	Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye	18
2643		OST148	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	18
2644	c	SPN432	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3	18
2645	c	NMN009	Niemann-Pick Disease Type C, Late Infantile Neurologic Onset	17
2646	c	NMN010	Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset	17
2647	c	NMN011	Niemann-Pick Disease Type C, Adult Neurologic Onset	17
2648		RTN104	Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness	17
2649		RTN211	Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract	17
2650		EPD051	Epidermolysis Bullosa Simplex with Anodontia/hypodontia	17
2651		MCR078	Microphthalmia Microtia Fetal Akinesia	17
2652		CTR155	Cataract-Ataxia-Deafness-Retardation Syndrome	17
2653		VTR017	Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency	17
2654		CTR154	Cataract, Aberrant Oral Frenula, and Growth Retardation	17
2655		ANR044	Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation	17
2656		ACT235	Acute Macular Neuroretinopathy	17
2657		MSC133	Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus	16
2658		XLN211	X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	16
2659		MLG062	Malignant Ciliary Body Melanoma	16
2660		OST058	Osteopoikilosis and Dacryocystitis	16
2661		CRN069	Corneal Hypesthesia, Familial	15
2662		CNG457	Congenital Oculomotor Nerve Palsy	15
2663		VSC048	Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	15
2664		CTR151	Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	14
2665		THM020	Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness	14
2666		CLB032	Coloboma of Macula and Skeletal Anomalies	14
2667		PST054	Postinfectious Encephalomyelitis	14
2668		PSD101	Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa	13
2669		CTR153	Cataract-Deafness-Hypogonadism Syndrome	13
2670	c	MLN039	Melanoma, Uveal 1