Eye Diseases Category (3773 diseases)

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

#	Family	MCID	Name	MIFTS
1		LBR031	Leber Optic Atrophy and Dystonia	40
2		RTN179	Retinal Arteries, Tortuosity of	44
3	c	SKN065	Skin/hair/eye Pigmentation, Variation in, 1	27
4		SCH038	Schopf-Schulz-Passarge Syndrome	51
5		BHR001	Behr Syndrome	41
6	P	RTN034	Retinal Cone Dystrophy 3a	32
7		OPT062	Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures	43
8	c	PRS122	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	41
9	c	OPT053	Optic Atrophy 1	54
10	c	OPT068	Optic Atrophy 3, Autosomal Dominant	50
11	c	OPT024	Optic Atrophy 5	33
12	c	SKN071	Skin/hair/eye Pigmentation, Variation in, 9	13
13		DYN002	Doyne Honeycomb Retinal Dystrophy	46
14		OPT001	Optic Disk Drusen	36
15		OPT079	Optic Atrophy 13 with Retinal and Foveal Abnormalities	21
16	P	EYD002	Eye Disease	59
17		OCL011	Ocular Motility Disease	45
18	c	OPT065	Optic Atrophy 9	38
19	c	RTN131	Retinitis Pigmentosa 27	35
20		BRN026	Branch Retinal Artery Occlusion	40
21		HYP742	Hyperpigmentation of Eyelids	13
22	c	STR084	Stargardt Disease 1	55
23		RTN020	Retinal Vascular Disease	45
24	c	CNR014	Cone-Rod Dystrophy 16	44
25	c	LBR009	Leber Congenital Amaurosis 14	43
26	c	ACQ001	Acquired Color Blindness	31
27	c	OPT080	Optic Atrophy 12	25
28		EYL006	Eyelid Benign Neoplasm	23
29		OPT005	Optic Nerve Astrocytoma	22
30		APH013	Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	14
31		PRT027	Partial Arterial Retinal Occlusion	9
32		DRY001	Dry Eye Syndrome	52
33		RMS001	Rem Sleep Behavior Disorder	46
34	c	OPT064	Optic Atrophy 11	41
35		PRR004	Preretinal Fibrosis	40
36		VSL013	Visual Impairment and Progressive Phthisis Bulbi	39
37		ACT022	Acute Retinal Necrosis Syndrome	38
38		RTN212	Retinal Dystrophy with or Without Macular Staphyloma	28
39		SHR097	Short Tarsus with Absence of Lower Eyelashes	27
40		MTC145	Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy	23
41		EYB005	Eyebrows, Duplication of, with Stretchable Skin and Syndactyly	16
42	P	CLB034	Coloboma, Ocular, Autosomal Dominant	53
43	P	RTN016	Retinal Degeneration	52
44	c	CNR007	Cone-Rod Dystrophy 6	52
45		AMB002	Amblyopia	51
46	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	50
47	c	CND011	Cone Dystrophy 3	36
48		OPT032	Optic Pathway Glioma	34
49		BRK005	Berk-Tabatznik Syndrome	7
50		CLB012	Coloboma of Optic Papilla	6
51	c	LBR004	Leber Congenital Amaurosis 1	56
52		FND002	Fundus Dystrophy	55
53		MCL006	Macular Retinal Edema	54
54	P	CND005	Cone Dystrophy	47
55		VSL002	Visual Epilepsy	47
56	c	RTN042	Retinitis Pigmentosa 12	46
57	P	SPS008	Spastic Ataxia	45
58	c	CNR005	Cone-Rod Dystrophy 3	42
59	c	CNR006	Cone-Rod Dystrophy 5	40
60	c	MCL059	Macular Dystrophy, Patterned, 1	38
61		TRC077	Trichomegaly	37
62		VSL003	Visual Agnosia	36
63	c	RTN032	Retinal Cone Dystrophy 1	33
64	c	SPS025	Spastic Paraplegia 15	32
65		RTN011	Retina Lymphoma	32
66	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	31
67		OPT002	Optic Nerve Sheath Meningioma	30
68	c	RTN067	Retinitis Pigmentosa 41	30
69	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	30
70	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	30
71	c	SPS170	Spastic Ataxia 2	29
72		RTN010	Retinal Melanoma	27
73	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	27
74	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	27
75	c	SPS171	Spastic Ataxia 5	27
76	c	SPS214	Spastic Ataxia 4	24
77	c	SPS163	Spastic Ataxia 3	22
78	c	ATS438	Autosomal Recessive Spastic Ataxia	22
79	c	SPS233	Spastic Ataxia 9, Autosomal Recessive	22
80	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	21
81		CBB001	Cobblestone Retinal Degeneration	20
82		LBR039	Leber Hereditary Optic Neuropathy, Autosomal Recessive	19
83		RTN005	Retinal Lattice Degeneration	18
84	c	SPS229	Spastic Ataxia 8	18
85	c	SPS162	Spastic Ataxia 1	17
86	c	SKN069	Skin/hair/eye Pigmentation, Variation in, 7	14
87		CHL024	Childhood Optic Nerve Glioma	11
88		TRN010	Transient Retinal Arterial Occlusion	11
89	c	ATS437	Autosomal Dominant Spastic Ataxia	9
90		HLR003	Hole Retinal Cyst	7
91		PRT007	Partial of Retinal Vein Occlusion	7
92		GLC005	Glaucomatous Atrophy of Optic Disc	6
93		VNS001	Venous Tributary Occlusion of Retina	6
94	c	SPS172	Spastic Ataxia 7	5
95		CHL023	Childhood Optic Tract Astrocytoma	5
96	P	VTL001	Vitelliform Macular Dystrophy	47
97	c	RTN058	Retinitis Pigmentosa 3	45
98		OCL086	Ocular Pigment Dispersion with or Without Glaucoma	43
99		RTN231	Retinal Dystrophy with Leukodystrophy	38
100	P	CNR031	Cone-Rod Dystrophy, X-Linked, 1	38
101		CRB189	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss	34
102	c	CNR039	Cone-Rod Dystrophy, X-Linked, 2	29
103	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	29
104		RTN229	Retinitis Pigmentosa 87 with Choroidal Involvement	24
105		RTN191	Retinal Dystrophy with or Without Extraocular Anomalies	19
106		EXF001	Exfoliation Syndrome	56
107	c	LBR012	Leber Congenital Amaurosis 2	53
108		HYP748	Hypertelorism	50
109		PPL021	Papilledema	50
110	c	RTN036	Retinal Cone Dystrophy 4	48
111	c	MCR124	Microphthalmia, Isolated 1	46
112		OPT010	Optic Papillitis	40
113	c	RTN230	Retinitis Pigmentosa 88	39
114	c	CNR003	Cone-Rod Dystrophy 1	38
115	c	KNB006	Knobloch Syndrome 1	37
116	c	MCR211	Microphthalmia, Isolated 6	37
117	c	RTN130	Retinitis Pigmentosa 46	37
118	c	RTN217	Retinitis Pigmentosa 83	34
119	c	RNG029	Ring Chromosome 14 Syndrome	34
120	c	ISL165	Isolated Microphthalmia 3	34
121	c	RNG008	Ring Chromosome 13	33
122	c	RNG023	Ring Chromosome 7	33
123	c	RTN227	Retinitis Pigmentosa 86	32
124	c	RNG018	Ring Chromosome 22	32
125	c	CND012	Cone Dystrophy 4	31
126	c	RNG017	Ring Chromosome 21	31
127	c	RNG004	Ring Chromosome 1	30
128	c	RNG022	Ring Chromosome 6	29
129	c	RNG007	Ring Chromosome 12	29
130	c	RNG020	Ring Chromosome 4	28
131	c	RNG024	Ring Chromosome 8	28
132	c	RNG005	Ring Chromosome 10	28
133	P	RNG032	Ring Chromosome	27
134	c	RNG013	Ring Chromosome 18	26
135	c	OPT025	Optic Atrophy 6	26
136	c	OPT060	Optic Atrophy 8	25
137		RTN173	Retinal Dystrophy and Obesity	25
138	c	RNG010	Ring Chromosome 15	25
139	c	RNG016	Ring Chromosome 20	25
140	c	RNG006	Ring Chromosome 11	24
141	c	RNG015	Ring Chromosome 2	23
142	P	ISL020	Isolated Microphthalmia	23
143	c	RNG019	Ring Chromosome 3	23
144	c	RNG025	Ring Chromosome 9	22
145	c	RNG021	Ring Chromosome 5	22
146		ACT201	Acute Posterior Multifocal Placoid Pigment Epitheliopathy	21
147	c	OPT059	Optic Atrophy 4	20
148	c	RNG011	Ring Chromosome 16	19
149	c	RNG014	Ring Chromosome 19	19
150	c	RNG031	Ring Chromosome Y Syndrome	18
151		GRP007	Grouped Pigmentation of the Retina	17
152	c	CNT016	Central Retinal Vein Occlusion	57
153	P	RTN022	Retinal Vein Occlusion	53
154	c	ACH020	Achromatopsia 2	52
155	c	NGH026	Night Blindness, Congenital Stationary, Type 1a	51
156	c	LBR008	Leber Congenital Amaurosis 13	48
157		KHN001	Kuhnt-Junius Degeneration	47
158	c	SPN283	Spinocerebellar Ataxia 37	44
159		ACT011	Acute Contagious Conjunctivitis	42
160	c	MCL038	Macular Degeneration, Age-Related, 4	39
161		CNR033	Cone-Rod Synaptic Disorder, Congenital Nonprogressive	38
162	c	RTN070	Retinitis Pigmentosa 9	38
163	c	CNR038	Cone-Rod Dystrophy, X-Linked, 3	36
164	c	NGH029	Night Blindness, Congenital Stationary, Type 1e	36
165	c	RTN150	Retinitis Pigmentosa 10	35
166	c	GLC041	Glaucoma 1, Open Angle, a	34
167	c	RTN140	Retinitis Pigmentosa 67	31
168		RTN013	Retinal Hemangioblastoma	31
169	P	NYS017	Nystagmus 1, Congenital, X-Linked	31
170	c	FVL006	Foveal Hypoplasia 1	31
171	c	RTN057	Retinitis Pigmentosa 29	30
172		RFR017	Refractive Amblyopia	27
173	c	RTN068	Retinitis Pigmentosa 6	26
174		ENC048	Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy	26
175	c	RTN053	Retinitis Pigmentosa 24	25
176		XLN012	X-Linked Congenital Stationary Night Blindness	24
177	c	RTN051	Retinitis Pigmentosa 22	24
178		PSD005	Pseudoretinitis Pigmentosa	24
179	c	GLC079	Glaucoma 1, Open Angle, P	23
180	c	CNR032	Cone-Rod Dystrophy 21	23
181	c	RTN148	Retinitis Pigmentosa 63	22
182	c	MYP168	Myopia 27, Autosomal Dominant	21
183		NGH031	Night Blindness, Congenital Stationary, Type1i	21
184		ULR001	Ulerythema Ophryogenesis	20
185	c	RTN063	Retinitis Pigmentosa 34	19
186		BLN017	Balint Syndrome	18
187	c	RTN206	Retinitis Pigmentosa, Late-Adult Onset	18
188	c	GLC101	Glaucoma 1, Open Angle, B	17
189	c	GLC051	Glaucoma 1, Open Angle, M	17
190	c	GLC099	Glaucoma 1, Primary Open Angle, C	17
191	c	GLC100	Glaucoma 1, Open Angle, D	17
192	c	NNS043	Nonsyndromic Retinitis Pigmentosa	16
193	c	SKN060	Skin/hair/eye Pigmentation, Variation in, 11	15
194		BLS004	Blessig's Cysts	15
195	c	GLC048	Glaucoma 1, Open Angle, I	14
196	c	GLC076	Glaucoma 1, Open Angle, H	14
197	c	GLC103	Glaucoma 1, Open Angle, K	13
198		SJG009	Sjogren-Larsson-Like Ichthyosis Without Cns or Eye Involvement	13
199	c	GLC102	Glaucoma 1, Open Angle, J	11
200	c	GLC080	Glaucoma 1, Open Angle, N	11
201	c	RTN223	Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene	10
202		OCL031	Oculo-Cerebral Dysplasia	9
203		ANT020	Anterior Optic Tract Meningioma	6
204		SNL002	Senile Reticular Retinal Degeneration	6
205		CYS012	Cystoid Macular Retinal Degeneration	6
206		PRM009	Primary Eye Hypotony	5
207		CRT010	Crater-Like Holes of Optic Disc	4
208		RTN009	Retinal Dystrophies Primarily Involving Bruch's Membrane	4
209	P	ANR048	Aniridia 1	62
210	c	SPN309	Spinocerebellar Ataxia 6	60
211		3MC001	3mc Syndrome 2	49
212	c	LBR018	Leber Congenital Amaurosis 8	49
213	c	RTN041	Retinitis Pigmentosa 11	48
214		ALB002	Albinism	47
215		RFR003	Refractive Error	47
216	c	ACH021	Achromatopsia 3	47
217	c	LBR016	Leber Congenital Amaurosis 6	47
218	c	RTN069	Retinitis Pigmentosa 7	46
219		OCL052	Ocular Dominance	39
220	c	MCL043	Macular Degeneration, Age-Related, 2	39
221		PST036	Posterior Column Ataxia with Retinitis Pigmentosa	38
222	c	DNR003	Duane Retraction Syndrome 1	38
223		HYD007	Hydrophthalmos	37
224	c	RTN046	Retinitis Pigmentosa 17	36
225	c	OGC002	Oguchi Disease 2	35
226	c	OGC001	Oguchi Disease 1	35
227	c	RTN166	Retinitis Pigmentosa 69	35
228	c	NGH024	Night Blindness, Congenital Stationary, Type 1h	34
229		AMR003	Amaurosis Fugax	34
230		FML286	Familial Isolated Trichomegaly	34
231	c	RTN234	Retinitis Pigmentosa 90	32
232		ABS022	Absolute Glaucoma	31
233	c	RTN116	Retinitis Pigmentosa 56	31
234	c	PHL010	Peho-Like Syndrome	30
235	c	MCL052	Macular Degeneration, Age-Related, 13	30
236	c	MYP018	Myopia 6	29
237		MCL057	Macular Dystrophy with Central Cone Involvement	28
238	c	ANR047	Aniridia 2	28
239		OCL025	Ocular Toxoplasmosis	27
240		CHR393	Chromosome 19p13.13 Deletion Syndrome	27
241	c	MCR349	Microphthalmia, Isolated, with Coloboma 3	26
242		NRD120	Neurodegeneration with Ataxia and Late-Onset Optic Atrophy	24
243	c	MCL061	Macular Dystrophy, Vitelliform, 4	24
244		MCR330	Microphthalmia, Isolated, with Cataract 1	23
245	P	MCL058	Macular Degeneration, Early-Onset	23
246	c	MCL056	Macular Dystrophy, Vitelliform, 5	22
247		NTR002	Nutritional Optic Neuropathy	22
248		EYC003	Eye Accommodation Disease	21
249		RTN236	Retinal Dystrophy and Microvillus Inclusion Disease	21
250	c	MYP070	Myopia 21, Autosomal Dominant	20
251	c	MYP074	Myopia 23, Autosomal Recessive	20
252	c	CNR042	Cone-Rod Dystrophy 22	20
253	c	MYP090	Myopia 24, Autosomal Dominant	19
254	c	MYP117	Myopia 25, Autosomal Dominant	19
255		MCL018	Macular Dystrophy, Concentric Annular	19
256	c	RTN238	Retinitis Pigmentosa 92	19
257	c	MYP075	Myopia 22, Autosomal Dominant	18
258	c	PX6002	Pax6-Related Aniridia	14
259		CHR720	Chromosome 16q12 Duplication Syndrome	12
260		RTN203	Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole	10
261		HRD179	Hair Defect-Photosensitivity-Intellectual Disability Syndrome	7
262		WLK002	Walker Dyson Syndrome	6
263		INT303	Intracranial Hypertension, Idiopathic	57
264	c	LTH007	Lethal Congenital Contracture Syndrome 1	53
265		RTN003	Retinal Ischemia	48
266	c	LBR005	Leber Congenital Amaurosis 10	47
267		GRV014	Graves Ophthalmopathy	47
268	c	LBR019	Leber Congenital Amaurosis 9	47
269	c	RTN162	Retinitis Pigmentosa 2	47
270	P	SDR002	Siderosis	45
271		BSL037	Basal Laminar Drusen	44
272	P	HRN001	Horner's Syndrome	44
273	c	LBR007	Leber Congenital Amaurosis 12	44
274	c	LBR017	Leber Congenital Amaurosis 7	41
275	c	GLC114	Glaucoma, Primary Closed-Angle	40
276	P	LTH003	Lethal Congenital Contracture Syndrome	39
277	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	39
278	c	LBR006	Leber Congenital Amaurosis 11	39
279	c	LTH008	Lethal Congenital Contracture Syndrome 2	38
280	c	LTH026	Lethal Congenital Contracture Syndrome 4	36
281	c	CRN306	Corneal Dystrophy, Posterior Polymorphous, 4	33
282		LWR019	Lowry-Wood Syndrome	33
283	P	ACT028	Acute Closed-Angle Glaucoma	32
284		JVN026	Jeavons Syndrome	32
285	c	CTR187	Cataract 48	32
286		ACN019	Acanthamoeba Keratitis	31
287	c	NGH028	Night Blindness, Congenital Stationary, Type 1d	31
288	c	NYS004	Nystagmus 3, Congenital, Autosomal Dominant	30
289	c	CLB022	Coloboma, Ocular, Autosomal Recessive	29
290	c	ATM100	Autoimmune Optic Neuritis	29
291	c	LTH047	Lethal Congenital Contracture Syndrome 3	28
292	c	DNR004	Duane Retraction Syndrome 2	28
293	c	RTN219	Retinitis Pigmentosa 85	27
294	c	STR054	Stargardt Disease 4	27
295		KRT074	Keratoendotheliitis Fugax Hereditaria	26
296	c	LTH029	Lethal Congenital Contracture Syndrome 9	26
297	c	LTH042	Lethal Congenital Contracture Syndrome 10	25
298	c	LTH032	Lethal Congenital Contracture Syndrome 7	25
299	c	LTH027	Lethal Congenital Contracture Syndrome 5	25
300	c	LTH039	Lethal Congenital Contracture Syndrome 11	25
301	c	MCL039	Macular Degeneration, Age-Related, 8	25
302		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	25
303	c	LTH030	Lethal Congenital Contracture Syndrome 8	24
304		EPL011	Epilepsy, Benign Occipital	24
305	c	CTR136	Cataract 41	23
306		INT012	Interval Angle-Closure Glaucoma	23
307	c	HRN024	Horner Syndrome, Congenital	22
308	c	LTH031	Lethal Congenital Contracture Syndrome 6	22
309		HYP046	Hypopigmentation of Eyelid	21
310		NRD170	Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment	20
311		MYP135	Myopia 26, X-Linked, Female-Limited	20
312		RB1001	Rab18 Deficiency	20
313	c	LBR034	Leber Congenital Amaurosis 19	20
314	c	MYP169	Myopia 28, Autosomal Recessive	20
315	c	RTN239	Retinitis Pigmentosa 93	19
316		SRD002	Srd5a3-Congenital Disorder of Glycosylation	19
317	P	PTT054	Patterned Macular Dystrophy	19
318		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	15
319	c	MCL080	Macular Dystrophy, Retinal, 4	14
320		ECT009	Ectopia Pupillae	14
321		MCR357	Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	12
322	c	SDR001	Siderosis of Eye	7
323		CLB023	Coloboma of Inferior Eyelid	6
324		CLB024	Coloboma of Superior Eyelid	6
325		INT285	Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome	6
326		TTT001	Tatton-Brown-Rahman Syndrome	73
327	c	PRX045	Peroxisome Biogenesis Disorder 1b	65
328	P	ENC018	Encephalopathy	64
329	P	LBR014	Leber Congenital Amaurosis 4	61
330	c	FRS014	Fraser Syndrome 1	61
331	c	PRX059	Peroxisome Biogenesis Disorder 1a	59
332	c	ANT077	Anterior Segment Dysgenesis 1	52
333	c	SPN106	Spinocerebellar Ataxia 5	52
334		CHR078	Chorioretinitis	50
335		CYT005	Cytomegalovirus Retinitis	49
336	c	LBR013	Leber Congenital Amaurosis 3	48
337	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	47
338	c	RTN172	Retinitis Pigmentosa 1	47
339	c	CTR103	Cataract 4, Multiple Types	47
340	c	CTR098	Cataract 1, Multiple Types	47
341	c	RTN141	Retinitis Pigmentosa 39	46
342	c	ANT071	Anterior Segment Dysgenesis 4	46
343		IRT001	Iritis	45
344	c	RTN054	Retinitis Pigmentosa 25	45
345	c	RTN055	Retinitis Pigmentosa 26	45
346	c	RTN043	Retinitis Pigmentosa 13	44
347	c	CTR182	Cataract 23, Multiple Types	44
348	c	CTR096	Cataract 6, Multiple Types	44
349	c	RTN044	Retinitis Pigmentosa 14	43
350	c	RTN066	Retinitis Pigmentosa 4	43
351	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	43
352		CRB016	Carbuncle	42
353	c	GLC078	Glaucoma 1, Open Angle, F	42
354	c	RTN159	Retinitis Pigmentosa 45	42
355	c	FRS016	Fraser Syndrome 2	42
356	c	CNR024	Cone-Rod Dystrophy 13	42
357	c	RTN157	Retinitis Pigmentosa 37	41
358	c	LBR010	Leber Congenital Amaurosis 15	41
359	c	RTN177	Retinitis Pigmentosa 73	41
360	c	RTN050	Retinitis Pigmentosa 20	41
361	c	RTN142	Retinitis Pigmentosa 38	41
362	c	RTN062	Retinitis Pigmentosa 33	41
363	c	RTN047	Retinitis Pigmentosa 18	41
364	c	MCL078	Macular Degeneration, Age-Related, 14	40
365	c	RTN090	Retinitis Pigmentosa 55	40
366	c	RTN171	Retinitis Pigmentosa 59	40
367	c	CTR118	Cataract 14, Multiple Types	40
368	c	SPN099	Spinocerebellar Ataxia 26	40
369	c	EXD004	Exudative Vitreoretinopathy 4	40
370	c	RTN085	Retinitis Pigmentosa 54	40
371	c	ACH038	Achromatopsia 7	40
372	c	CNR017	Cone-Rod Dystrophy 9	39
373	c	PRX054	Peroxisome Biogenesis Disorder 12a	39
374	c	PRX055	Peroxisome Biogenesis Disorder 11a	39
375	c	CNR016	Cone-Rod Dystrophy 7	38
376	c	CTR174	Cataract 40	38
377	c	MCL041	Macular Degeneration, Age-Related, 7	38
378	c	RTN180	Retinitis Pigmentosa 74	38
379	c	RTN059	Retinitis Pigmentosa 30	38
380	c	RTN210	Retinitis Pigmentosa 50	38
381	c	RTN048	Retinitis Pigmentosa 19	38
382	c	MCL044	Macular Degeneration, Age-Related, 9	38
383	c	PRX063	Peroxisome Biogenesis Disorder 2a	37
384	c	LBR015	Leber Congenital Amaurosis 5	37
385	c	ACH023	Achromatopsia 4	37
386		DNC004	Diencephalic Syndrome	36
387	c	RTN056	Retinitis Pigmentosa 28	36
388	c	RTN146	Retinitis Pigmentosa 62	36
389	c	CNR013	Cone-Rod Dystrophy 12	36
390	c	PRX060	Peroxisome Biogenesis Disorder 5a	36
391		CRT012	Cortical Blindness	36
392	c	STR040	Stargardt Disease 3	35
393	c	RTN134	Retinitis Pigmentosa 40	35
394	c	RTN052	Retinitis Pigmentosa 23	35
395	c	CNR012	Cone-Rod Dystrophy 11	35
396	c	PRX050	Peroxisome Biogenesis Disorder 9b	35
397		RTN006	Retinal Drusen	34
398	c	CNR025	Cone-Rod Dystrophy 15	34
399	c	RTN152	Retinitis Pigmentosa 66	34
400	c	RTN176	Retinitis Pigmentosa 71	34
401	c	PRX057	Peroxisome Biogenesis Disorder 4a	34
402	c	RTN114	Retinitis Pigmentosa 58	34
403	c	PRX065	Peroxisome Biogenesis Disorder 3a	34
404	c	CTR095	Cataract 8, Multiple Types	34
405		STR019	Steroid-Induced Glaucoma	33
406	c	RTN149	Retinitis Pigmentosa 42	33
407	c	RTN186	Retinitis Pigmentosa 75	33
408		MCL029	Macular Degeneration, X-Linked Atrophic	33
409	c	CNR026	Cone-Rod Dystrophy 18	33
410	c	RTN060	Retinitis Pigmentosa 31	33
411	c	PRX051	Peroxisome Biogenesis Disorder 6a	33
412	c	CNR021	Cone-Rod Dystrophy 10	33
413	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	33
414	c	CNR030	Cone-Rod Dystrophy 20	32
415	c	PRX046	Peroxisome Biogenesis Disorder 7a	32
416	c	RTN165	Retinitis Pigmentosa 68	32
417	c	CHR054	Chronic Closed-Angle Glaucoma	32
418		ECT033	Ectopia Lentis Et Pupillae	32
419	c	RTN233	Retinitis Pigmentosa 89	32
420	c	RTN218	Retinitis Pigmentosa 84	32
421	c	CTR185	Cataract 30	32
422	c	EXD006	Exudative Vitreoretinopathy 5	31
423	c	RTN144	Retinitis Pigmentosa 61	31
424		SML010	Simultanagnosia	31
425	c	RTN061	Retinitis Pigmentosa 32	31
426	c	PRX048	Peroxisome Biogenesis Disorder 10a	31
427	c	RTN064	Retinitis Pigmentosa 35	31
428	c	CTR124	Cataract 10, Multiple Types	31
429	c	RTN190	Retinitis Pigmentosa 76	31
430	c	MCL071	Macular Dystrophy, Patterned, 2	31
431	c	RTN106	Retinitis Pigmentosa 51	31
432	c	RTN117	Retinitis Pigmentosa 57	31
433	c	SPS062	Spastic Paraplegia 34, X-Linked	31
434	c	RTN192	Retinitis Pigmentosa 77	30
435	c	RTN178	Retinitis Pigmentosa 72	30
436	P	PRX064	Peroxisome Biogenesis Disorder 2b	30
437	c	CTR175	Cataract 24	30
438	c	PRX058	Peroxisome Biogenesis Disorder 4b	30
439	c	RTN160	Retinitis Pigmentosa 60	30
440	c	PRX052	Peroxisome Biogenesis Disorder 13a	30
441	c	RTN133	Retinitis Pigmentosa 43	30
442		RTN019	Retinal Telangiectasia	30
443	P	MCR352	Microphthalmia, Isolated, with Coloboma 6	30
444		CRN238	Corneal Dystrophy, Epithelial Basement Membrane	30
445		CRT069	Cortical Malformations, Occipital	30
446	c	CTR119	Cataract 32, Multiple Types	30
447	c	NYS013	Nystagmus 6, Congenital, X-Linked	30
448		TXC008	Toxic Optic Neuropathy	29
449	c	SPS198	Spastic Paraplegia 16, X-Linked	29
450	c	RTN136	Retinitis Pigmentosa 44	29
451		SHP001	Shipyard Eye	29
452	c	RTN213	Retinitis Pigmentosa 80	29
453	c	RTN065	Retinitis Pigmentosa 36	29
454	c	RTN129	Retinitis Pigmentosa 49	29
455	c	PRX066	Peroxisome Biogenesis Disorder 3b	29
456		OCL004	Ocular Hyperemia	29
457	c	FRS015	Fraser Syndrome 3	28
458	c	PRX091	Peroxisome Biogenesis Disorder 8a	28
459	c	PRX043	Peroxisome Biogenesis Disorder 6b	28
460	c	PRX047	Peroxisome Biogenesis Disorder 5b	28
461	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
462	c	MCL077	Macular Degeneration, Age-Related, 5	28
463	c	MCL030	Macular Degeneration, Age-Related, 10	28
464	c	RTN143	Retinitis Pigmentosa 47	28
465	c	PRX068	Peroxisome Biogenesis Disorder 7b	27
466		HMC012	Hemicrania Continua	27
467	c	MCR282	Microcephaly and Chorioretinopathy 1	27
468		JBR046	Jaberi-Elahi Syndrome	27
469		RTN004	Retinal Microaneurysm	26
470	c	PRX062	Peroxisome Biogenesis Disorder 8b	26
471	c	CNR029	Cone-Rod Dystrophy 19	26
472	c	CTR121	Cataract 25	26
473		PHC002	Phacogenic Glaucoma	25
474	c	NNP011	Nanophthalmos 2	25
475	c	RTN169	Retinitis Pigmentosa 70	25
476	c	CRN160	Corneal Dystrophy, Lattice Type Iiia	25
477	c	MCL040	Macular Degeneration, Age-Related, 3	25
478	P	TXC009	Toxic Maculopathy	25
479		MTC230	Mitochondrial Complex I Deficiency, Nuclear Type 36	25
480	c	CHR449	Choroidal Dystrophy, Central Areolar 2	25
481	c	PRX056	Peroxisome Biogenesis Disorder 11b	24
482	c	NNP012	Nanophthalmos 4	24
483	c	MCL065	Macular Degeneration, Age-Related, 15	24
484		AQS001	Aqueous Misdirection	24
485	c	CTR169	Cataract 29	24
486		EYD001	Eye Degenerative Disease	24
487	c	MCL036	Macular Degeneration, Age-Related, 6	24
488	c	MCR272	Microcephaly and Chorioretinopathy, Autosomal Recessive, 3	24
489	c	RTN147	Retinitis Pigmentosa 48	23
490	c	RTN195	Retinitis Pigmentosa 79	23
491	c	CTR157	Cataract 28	23
492	c	MCR283	Microcephaly and Chorioretinopathy 2	23
493	c	CTR158	Cataract 37	23
494		TRM002	Traumatic Glaucoma	23
495		RTN216	Retinitis Pigmentosa 82 with or Without Situs Inversus	22
496	c	SPR083	Sporadic Hemiplegic Migraine	22
497	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	22
498	c	CTR110	Cataract 26, Multiple Types	22
499	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	22
500	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	21
501	c	HYP832	Hypotrichosis 14	21
502	c	PRX089	Peroxisome Biogenesis Disorder 10b	21
503	c	RTN214	Retinitis Pigmentosa 81	21
504	c	RTN196	Retinitis Pigmentosa 78	21
505	c	NNP017	Nanophthalmos 1	21
506	c	MCR350	Microphthalmia, Isolated, with Coloboma 5	21
507		MLT035	Multifocal Choroiditis	21
508	c	CTR178	Cataract 27	21
509	c	MCL073	Macular Dystrophy, Vitelliform, 1	21
510	c	MCL051	Macular Degeneration, Age-Related, 12	21
511	P	PRM016	Primary Optic Atrophy	21
512	c	CTR128	Cataract 33	20
513	c	CTR159	Cataract 35	20
514		TBR012	Tuberculous Uveitis	20
515		MTC217	Mitochondrial Complex Iv Deficiency, Nuclear Type 8	20
516		MCL079	Macular Telangiectasia Type 2	20
517		SPT020	Spatial Visualization, Aptitude for	20
518	c	MCR210	Microphthalmia, Isolated, with Coloboma 7	19
519	c	MCR271	Microphthalmia, Isolated, with Coloboma 10	19
520	c	GLC032	Glaucoma, Hereditary	19
521	c	GLC060	Glaucoma 1, Open Angle, G	19
522	c	CTR190	Cataract 49	18
523		PRT024	Partial Optic Atrophy	18
524		THY105	Thyrocerebroretinal Syndrome	18
525		ABN001	Abnormal Retinal Correspondence	18
526	c	MCL032	Macular Degeneration, Age-Related, 11	17
527	c	MCL026	Macular Dystrophy, Retinal, 3	16
528	c	RTN240	Retinitis Pigmentosa 95	16
529	c	GLC104	Glaucoma 1, Open Angle, O	16
530		CLL022	Collins Pope Syndrome	16
531		LTR005	Lateral Displacement of Eye	15
532		RTN198	Retinal Aplasia	15
533		APR010	Apraxia of Eyelid Opening	15
534		RTN185	Retinal Dysplasia, Primary	15
535		NGL005	Ngly1-Congenital Disorder of Deglycosylation	14
536	c	OPT071	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive	14
537	c	MCR335	Microphthalmia, Isolated, with Coloboma 4	14
538	c	MCR284	Microcephaly and Chorioretinopathy 3	14
539	P	LBR033	Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy	14
540	P	FRS017	Fraser-Like Syndrome	14
541		RTN199	Retinal Venous Beading	14
542	c	MCR346	Microphthalmia, Isolated, with Coloboma 2	14
543		MTP036	Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy	13
544		CHL133	Cholestasis with Gallstone, Ataxia, and Visual Disturbance	13
545		TDD001	Todd's Paralysis	13
546	c	MCR338	Microphthalmia, Isolated, with Coloboma 1	13
547	c	NNP008	Nanophthalmos 3	13
548		PDT048	Pediatric-Onset Glaucoma of Genetic Origin	13
549	P	RTN220	Retinal Ciliopathy	13
550		RSR001	Reese Retinal Dysplasia	12
551	c	STX006	Stxbp1-Related Encephalopathy	11
552		OPT072	Opticocochleodentate Degeneration	11
553		MYL068	Myelinated Optic Nerve Fibers	11
554	c	ADM003	Adamtsl4-Related Eye Disorders	11
555		OPT073	Optic Atrophy--Spastic Paraplegia Syndrome	10
556		NRP050	Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance	10
557		OPT067	Optic Atrophy with Demyelinating Disease of Cns	10
558	P	OPT029	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant	10
559		ART139	Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma	10
560	c	RP6003	Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy	9
561	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	9
562		SPS217	Spastic Paraplegia, Optic Atrophy, and Dementia	9
563		TNT001	Tented Eyebrows	9
564		HYP023	Hypersecretion Glaucoma	9
565	P	MCR048	Microcephaly Chorioretinopathy Recessive Form	9
566		RTN202	Retinal Degeneration and Epilepsy	9
567		LTT009	Lattice Degeneration of Retina Leading to Retinal Detachment	8
568		MCR336	Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies	8
569		RTN204	Retinal Telangiectasia and Hypogammaglobulinemia	8
570		GHS002	Ghose Sachdev Kumar Syndrome	7
571		ALG004	Al Gazali Khidr Prem Chandran Syndrome	7
572		FRN018	Frenkel Russe Syndrome	7
573		CNT006	Central Pterygium	6
574		VSL001	Visual Verbal Agnosia	6
575		TRS032	Tristichiasis	6
576		PGN001	Pagon Stephan Syndrome	6
577		LXT001	Luxation of Globe	6
578	c	CTR008	Cataract Congenital Autosomal Dominant	5
579		EYB006	Eyebrow, Whorl in	5
580		XRD002	Xeroderma of Eyelid	5
581		ECZ001	Eczematous Dermatitis of Eyelid	5
582		DSC002	Discoid Lupus Erythematosus of Eyelid	4
583		HYP045	Hypertrichosis of Eyelid	4
584		SPS224	Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal	4
585		HYP044	Hypotrichosis of Eyelid	4
586		PRP004	Peripheral Scars of Retina	4
587		DYS010	Dystrophies Primarily Involving the Retinal Pigment Epithelium	4
588		GNT168	Genetic Congenital Malformation of the Eye with Glaucoma As a Major Feature	4
589		RRG068	Rare Genetic Optic Nerve Disorder	4
590		ECC013	Eccrine Syringofibroadenomatosis with Eyelid Abnormalities	4
591		RRG051	Rare Genetic Retinal Disorder	3
592		RTN007	Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses	3
593		RRG048	Rare Genetic Disorder Involving Multiple Structures of the Eye	3
594	P	GNT060	Genetic Eye Tumor	3
595	c	RRG044	Rare Genetic Tumor	3
596	P	RRG058	Rare Genetic Disorder of the Anterior Segment of the Eye	3
597		STR110	Structural Developmental Eye Defect of Genetic Origin	3
598		RRC021	Rare Central Nervous System and Retinal Vascular Disease	3
599	c	MCR059	Microcephaly with Chorioretinopathy, Autosomal Dominant Form	3
600		RTN076	Retinopathy, Arteriosclerotic	3
601	c	RTN224	Retinal Ciliopathy Due to Mutation in the Rpgr Gene	3
602	c	RTN226	Retinal Ciliopathy Due to Mutation in Usher Gene	3
603	c	RTN222	Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene	3
604	c	RTN225	Retinal Ciliopathy Due to Mutation in the Rpgrip Gene	3
605		RRG062	Rare Genetic Eyelid Malposition Disorder	3
606	c	RTN221	Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene	3
607		CNG068	Congenital Cystic Eye Multiple Ocular and Intracranial Anomalies	2
608		CNG589	Congenital Optic Disc Excavation of Genetic Origin	2
609		VSL006	Visual Pathway and Hypothalamic Glioma, Childhood	1
610	P	NNN008	Noonan Syndrome 1	76
611	c	MCP050	Mucopolysaccharidosis, Type Ii	74
612	P	JBR020	Joubert Syndrome 1	72
613		XRD010	Xeroderma Pigmentosum, Variant Type	72
614		ACR006	Aceruloplasminemia	69
615	P	SPR120	Supranuclear Palsy, Progressive, 1	69
616	P	GCH001	Gaucher's Disease	68
617		SND001	Sandhoff Disease	68
618	P	KBK002	Kabuki Syndrome 1	67
619	P	CNG042	Congenital Central Hypoventilation Syndrome	67
620		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	66
621		MVL001	Mevalonic Aciduria	66
622		ALS001	Alstrom Syndrome	66
623		NVS017	Nevus, Epidermal	65
624	P	CNG001	Congenital Myasthenic Syndrome	65
625	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	63
626		GRG001	Greig Cephalopolysyndactyly Syndrome	63
627	P	FRD001	Friedreich Ataxia	62
628		CHN055	Chanarin-Dorfman Syndrome	62
629		MYP136	Myopathy, Centronuclear, X-Linked	62
630	c	CNT119	Central Hypoventilation Syndrome, Congenital, 1	62
631	P	NRB001	Neuroblastoma	62
632	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	61
633		MSL001	Measles	61
634	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	61
635	P	SPN301	Spinocerebellar Ataxia 2	61
636		VSC063	Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations	61
637		GYR004	Gyrate Atrophy of Choroid and Retina	60
638		IMM140	Immunodeficiency 47	59
639		CRT002	Cartilage-Hair Hypoplasia	59
640		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	59
641		FRB001	Farber Lipogranulomatosis	59
642		MLN014	Melnick-Needles Syndrome	59
643	P	CTS001	Cutis Laxa	57
644	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	57
645	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	57
646	P	ADM011	Adams-Oliver Syndrome	57
647	c	CCK007	Cockayne Syndrome B	57
648	c	CTS045	Cutis Laxa, Autosomal Dominant 1	57
649	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	57
650		PPL025	Popliteal Pterygium Syndrome	56
651	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	56
652	c	SPN294	Spinocerebellar Ataxia 1	56
653		KRT002	Keratomalacia	56
654	c	CRD259	Ceroid Lipofuscinosis, Neuronal, 6a	55
655		PLS030	Plasminogen Deficiency, Type I	55
656		CHR101	Char Syndrome	55
657	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	54
658		CLB010	Coloboma of Macula	54
659		ACR058	Acrofacial Dysostosis 1, Nager Type	54
660		OPT066	Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy	52
661	c	GCH016	Gaucher Disease, Type Ii	52
662	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	52
663		SCL046	Scalp-Ear-Nipple Syndrome	52
664		DNR002	Duane-Radial Ray Syndrome	52
665	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	52
666		MBS002	Moebius Syndrome	52
667	c	NNN010	Noonan Syndrome 3	52
668	P	NGH001	Night Blindness	52
669		SCH068	Schwartz-Jampel Syndrome, Type 1	52
670		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	51
671	c	SPN311	Spinocerebellar Ataxia 13	51
672	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	51
673	P	KRT028	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	51
674	P	CRN028	Corneal Ulcer	51
675		BLP005	Blepharitis	51
676	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	51
677	c	MCR251	Microphthalmia, Syndromic 6	50
678	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	50
679		CRD002	Cri-Du-Chat Syndrome	50
680	c	SPN100	Spinocerebellar Ataxia 27	50
681	c	JBR004	Joubert Syndrome 2	50
682	P	VTR007	Vitreoretinopathy	49
683	c	SPN296	Spinocerebellar Ataxia 17	49
684	c	NNN028	Noonan Syndrome-Like Disorder with Loose Anagen Hair 1	49
685	c	SPN308	Spinocerebellar Ataxia 28	49
686	c	GNR039	Generalized Epilepsy with Febrile Seizures Plus, Type 2	49
687	c	JBR012	Joubert Syndrome 5	48
688	c	DSB006	Desbuquois Dysplasia 1	48
689	c	SPN305	Spinocerebellar Ataxia 11	48
690	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	48
691	c	JBR013	Joubert Syndrome 8	48
692	c	SPN304	Spinocerebellar Ataxia 8	48
693	c	SPN293	Spinocerebellar Ataxia 12	48
694		CHR008	Choroiditis	47
695	c	SPN312	Spinocerebellar Ataxia 14	47
696	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	47
697	c	GNR043	Generalized Epilepsy with Febrile Seizures Plus, Type 7	47
698	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	47
699	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	47
700		RTN023	Retinitis	47
701	c	JBR025	Joubert Syndrome 17	47
702	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	47
703	c	JBR024	Joubert Syndrome 14	47
704	c	ATS393	Autosomal Recessive Cutis Laxa Type I	46
705	c	SPN314	Spinocerebellar Ataxia 10	46
706	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	46
707		ACR012	Aicardi Syndrome	46
708	c	JBR035	Joubert Syndrome 24	46
709	c	JBR043	Joubert Syndrome 32	46
710	c	JBR031	Joubert Syndrome 21	46
711	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	46
712		OLV004	Oliver-Mcfarlane Syndrome	46
713	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	46
714	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	45
715	c	JBR022	Joubert Syndrome 20	45
716		MCR216	Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation	45
717	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	45
718	c	JBR011	Joubert Syndrome 7	45
719	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	45
720	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	45
721	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	45
722	c	SPN104	Spinocerebellar Ataxia 34	45
723		ORB013	Orbital Disease	44
724	c	SPN101	Spinocerebellar Ataxia 29	44
725	c	SPN286	Spinocerebellar Ataxia 40	44
726		FNT005	Fontaine Progeroid Syndrome	44
727	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	44
728	c	SPN284	Spinocerebellar Ataxia 38	44
729	c	SPN097	Spinocerebellar Ataxia 23	44
730	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	44
731	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	44
732	c	SPN266	Spinocerebellar Ataxia 35	44
733	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	44
734	c	JBR026	Joubert Syndrome 15	44
735	c	NNN009	Noonan Syndrome 2	44
736	c	JBR042	Joubert Syndrome 23	44
737	c	SPN290	Spinocerebellar Ataxia 15	44
738	P	NNN037	Noonan Syndrome-Like Disorder with Loose Anagen Hair	44
739	P	OCL001	Ocular Albinism	43
740	P	DCR003	Dacryoadenitis	43
741	P	CLD003	Cold-Induced Sweating Syndrome	43
742	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	43
743	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	43
744	c	JBR016	Joubert Syndrome 10	43
745	c	MYS052	Myasthenic Syndrome, Congenital, 10	43
746	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	43
747		RBF003	Riboflavin Transporter Deficiency	43
748	c	SPN247	Spinocerebellar Ataxia Type 19/22	43
749		PHT008	Photosensitive Epilepsy	42
750	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	42
751	c	CTS041	Cutis Laxa, Autosomal Dominant 3	42
752	c	SPN105	Spinocerebellar Ataxia 4	42
753	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	42
754	c	NNN012	Noonan Syndrome 5	42
755	c	SPN265	Spinocerebellar Ataxia 36	42
756	c	ADM005	Adams-Oliver Syndrome 1	42
757		MCL003	Macular Holes	42
758		OCL020	Ocular Cicatricial Pemphigoid	42
759		3MC002	3mc Syndrome 1	42
760	c	MYS075	Myasthenic Syndrome, Congenital, 13	41
761	c	MCR137	Microphthalmia, Isolated 2	41
762	c	MYS074	Myasthenic Syndrome, Congenital, 12	41
763		CLR133	Colorblindness, Partial, Protan Series	41
764	c	MYS076	Myasthenic Syndrome, Congenital, 8	41
765	c	NRB010	Neuroblastoma 1	41
766	c	ORT011	Orthostatic Hypotension 1	41
767	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	41
768		XRP001	Xerophthalmia	41
769	c	SPN096	Spinocerebellar Ataxia 21	41
770	P	HYP087	Hypotrichosis	40
771	P	BRT062	Bartsocas-Papas Syndrome 1	40
772	c	NNN021	Noonan Syndrome 8	40
773	c	JBR015	Joubert Syndrome 6	40
774	c	MYS078	Myasthenic Syndrome, Congenital, 14	40
775	c	NNN011	Noonan Syndrome 4	40
776	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	40
777	c	JBR030	Joubert Syndrome 22	40
778	c	SPN103	Spinocerebellar Ataxia 31	40
779		BRT046	Baraitser-Winter Cerebrofrontofacial Syndrome	40
780	c	HYP581	Hypotrichosis 6	40
781	P	LCR008	Lacrimal Apparatus Disease	39
782	P	CNG629	Congenital Disorder of Deglycosylation 1	39
783		GNT006	Giant Papillary Conjunctivitis	39
784	c	JBR028	Joubert Syndrome 13	39
785	c	JBR037	Joubert Syndrome 26	39
786	c	LKD018	Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	39
787	c	JBR027	Joubert Syndrome 16	39
788		ENP001	Enophthalmos	39
789	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	39
790	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	39
791	c	SPN419	Spinocerebellar Ataxia 45	39
792	c	NNN020	Noonan Syndrome 7	38
793	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	38
794	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	38
795		DBT007	Diabetic Cataract	38
796	c	MYS067	Myasthenic Syndrome, Congenital, 22	38
797	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	38
798	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	38
799	P	DCR004	Dacryocystitis	38
800		HYP008	Hypertensive Retinopathy	38
801		BLP006	Blepharoconjunctivitis	37
802	c	JBR036	Joubert Syndrome 25	37
803	c	SPN102	Spinocerebellar Ataxia 30	37
804	P	CRN233	Corneal Dystrophy, Fuchs Endothelial, 1	37
805		STR113	Strabismic Amblyopia	37
806		TLC001	Telecanthus	37
807	c	JBR021	Joubert Syndrome 18	37
808	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	37
809		EPT025	Epithelial Basement Membrane Dystrophy	37
810	c	SPN418	Spinocerebellar Ataxia 44	37
811	P	CNG041	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	36
812		AKN002	Akinetic Mutism	36
813	c	NNN025	Noonan Syndrome 10	36
814	c	JBR040	Joubert Syndrome 30	36
815	c	HYP507	Hypotrichosis 1	36
816		LMB050	Limbal Stem Cell Deficiency	36
817	c	MYS070	Myasthenic Syndrome, Congenital, 19	36
818	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	36
819		RHY001	Rhyns Syndrome	36
820	c	NNN013	Noonan Syndrome 6	36
821	P	LNS003	Lens Disease	36
822		VTR005	Vitreous Disease	35
823	c	KBK003	Kabuki Syndrome 2	35
824		UVL010	Uveal Disease	35
825		PST086	Posterior Cortical Atrophy	35
826	c	JBR045	Joubert Syndrome 33	35
827	c	SPN383	Spinocerebellar Ataxia 42	35
828	c	ATP003	Atp6v0a2-Related Cutis Laxa	35
829	c	SPN299	Spinocerebellar Ataxia 20	35
830		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	35
831	c	SPN095	Spinocerebellar Ataxia 19	35
832	c	SPN098	Spinocerebellar Ataxia 25	35
833	c	CTS031	Cutis Laxa, Autosomal Dominant 2	35
834	c	SPN427	Spinocerebellar Ataxia 48	35
835	c	NNN027	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2	34
836	P	DSB002	Desbuquois Dysplasia	34
837		SLF015	Self-Improving Collodion Baby	34
838	c	MYS064	Myasthenic Syndrome, Congenital, 16	34
839		SPN450	Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis	34
840	c	SPN094	Spinocerebellar Ataxia 18	34
841		PST063	Postsynaptic Congenital Myasthenic Syndromes	34
842	c	ADM007	Adams-Oliver Syndrome 2	34
843	c	JBR014	Joubert Syndrome 9	34
844	c	HYP577	Hypotrichosis 13	34
845	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	34
846	c	NNN024	Noonan Syndrome 9	33
847	c	NNN034	Noonan Syndrome 12	33
848	c	GNR034	Generalized Epilepsy with Febrile Seizures Plus, Type 9	33
849		CNG462	Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	33
850	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	33
851	c	ADM010	Adams-Oliver Syndrome 5	33
852		LKC002	Leukocoria	33
853	c	MYS077	Myasthenic Syndrome, Congenital, 15	33
854		PSD008	Pseudopapilledema	33
855		HRD037	Hardikar Syndrome	33
856	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	33
857	c	HYP576	Hypotrichosis 4	33
858		GLC001	Glaucomatocyclitic Crisis	33
859	c	NRB015	Neuroblastoma 2	32
860	c	CTR111	Cataract 36	32
861	c	KRT078	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	32
862	c	NNN036	Noonan Syndrome 13	31
863	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	31
864	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	31
865		SCR039	Scorpion Envenomation	31
866	c	SPN431	Spinocerebellar Ataxia, Autosomal Recessive 27	31
867	c	DSB005	Desbuquois Dysplasia 2	31
868	c	CTS048	Cutis Laxa, Autosomal Recessive, Type Iie	31
869	c	MNS014	Monosomy 22	30
870	c	JBR039	Joubert Syndrome 28	30
871	c	MCR392	Microphthalmia, Syndromic 16	30
872	c	MYS065	Myasthenic Syndrome, Congenital, 18	30
873	c	NNN029	Noonan Syndrome 11	30
874		CLR132	Colorblindness, Partial, Deutan Series	30
875	c	FRD006	Friedreich Ataxia 2	30
876		NSL017	Nasolacrimal Duct Cyst	29
877	c	ACT047	Acute Endophthalmitis	29
878	c	SPN372	Spinocerebellar Ataxia 43	29
879		ATP013	Atopic Keratoconjunctivitis	29
880		KRT079	Keratosis Pilaris Atrophicans Faciei	29
881		XLN232	X-Linked Alport Syndrome-Diffuse Leiomyomatosis	29
882		PLL004	Pallister W Syndrome	28
883	c	NRB014	Neuroblastoma 3	28
884	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	28
885	c	SPN421	Spinocerebellar Ataxia 47	28
886	c	HYP528	Hypotrichosis 11	28
887		KRT057	Keratosis Follicularis Spinulosa Decalvans, X-Linked	28
888		MNC001	Monocular Esotropia	28
889	c	MYP127	Myopia 2, Autosomal Dominant	28
890	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	28
891		DPR017	Deprivation Amblyopia	27
892	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	27
893		PRL006	Paralytic Lagophthalmos	27
894		ISL011	Isolated Aniridia	27
895	c	MYS056	Myasthenic Syndrome, Congenital, 17	27
896	c	SHR129	Short-Rib Thoracic Dysplasia 21 Without Polydactyly	27
897	c	ADM009	Adams-Oliver Syndrome 4	27
898	c	JBR044	Joubert Syndrome 31	27
899	c	SPN451	Spinocerebellar Ataxia, Autosomal Recessive 29	27
900		HYP048	Hypotropia	27
901	c	HYP578	Hypotrichosis 12	27
902	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	27
903	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	27
904	c	SPN420	Spinocerebellar Ataxia 46	26
905	c	SPN458	Spinocerebellar Ataxia 49	26
906	c	SPN323	Spinocerebellar Ataxia 41	26
907	c	ADM012	Adams-Oliver Syndrome 6	26
908	c	SPN455	Spinocerebellar Ataxia, Autosomal Recessive 31	26
909	c	JBR049	Joubert Syndrome 37	26
910		NDL008	Nodular Episcleritis	26
911	c	CTR166	Cataract 33, Multiple Types	26
912		CRN267	Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation	26
913	c	CTR097	Cataract 34, Multiple Types	26
914	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	25
915	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	25
916		PHC015	Phacoanaphylactic Uveitis	25
917	c	MYP138	Myopia 3, Autosomal Dominant	25
918		SCL011	Sclerosing Keratitis	25
919		HRD019	Hereditary Choroidal Atrophy	25
920	c	CNG630	Congenital Disorder of Deglycosylation 2	25
921	c	MYS084	Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive	25
922		CNG005	Congenital Aphakia	25
923	c	GNR046	Generalized Epilepsy with Febrile Seizures Plus, Type 10	25
924	c	NGH030	Night Blindness, Congenital Stationary, Type 1f	24
925	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	24
926	c	MNS008	Monosomy 21	24
927		MRN005	Marie Unna Congenital Hypotrichosis	24
928	c	JBR047	Joubert Syndrome 35	24
929	P	PRM227	Primary Orthostatic Hypotension	24
930	c	NNN038	Noonan Syndrome 14	24
931	c	JBR038	Joubert Syndrome 27	24
932		TTR019	Tetrasomy 5p	24
933		CGN001	Cogan-Reese Syndrome	24
934	c	SPN440	Spinocerebellar Ataxia, Autosomal Recessive 28	24
935	c	ADM008	Adams-Oliver Syndrome 3	24
936		SHR065	Short Stature with Microcephaly and Distinctive Facies	24
937		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	24
938		CRN004	Corneal Abscess	24
939	c	JBR050	Joubert Syndrome 38	24
940	c	MTC074	Metachromatic Leukodystrophy, Adult Form	24
941	c	NYS016	Nystagmus 7, Congenital, Autosomal Dominant	23
942		ISL145	Isolated Macular Dystrophy	23
943		SCL008	Scleromalacia Perforans	23
944	c	CHR060	Chronic Dacryocystitis	23
945		MTC169	Mitochondrial Complex I Deficiency, Nuclear Type 23	23
946	c	JBR048	Joubert Syndrome 36	23
947	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	23
948		KRT020	Keratoconus Posticus Circumscriptus	23
949	c	SPN452	Spinocerebellar Ataxia, Autosomal Recessive 30	23
950	c	BRT063	Bartsocas-Papas Syndrome 2	23
951	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	23
952		CRP036	Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	23
953	c	CRN143	Corneal Dystrophy, Fuchs Endothelial, 4	23
954	c	JBR051	Joubert Syndrome 39	23
955	c	CRB168	Cerebroretinal Microangiopathy with Calcifications and Cysts 2	22
956	c	CLD017	Cold-Induced Sweating Syndrome 3	22
957		BRD008	Borderline Glaucoma	22
958	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	22
959	c	MNS011	Monosomy 9q22.3	22
960		NTH002	Nathalie Syndrome	22
961	c	SPN459	Spinocerebellar Ataxia, Autosomal Recessive 32	22
962	c	JBR052	Joubert Syndrome 40	22
963	c	ACT037	Acute Dacryocystitis	22
964		ERY043	Euryblepharon	22
965	c	ORT012	Orthostatic Hypotension 2	21
966	c	CRN318	Corneal Dystrophy, Meesmann, 2	21
967		DST044	Distal Trisomy 14q	21
968	c	MYP146	Myopia 15, Autosomal Dominant	21
969		GRW033	Growth Retardation, Small and Puffy Hands and Feet, and Eczema	21
970	c	HYP573	Hypotrichosis 5	20
971	c	VCN001	Vcan-Related Vitreoretinopathy	20
972	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	20
973	c	SPN259	Spinocerebellar Ataxia 32	20
974	c	CTR139	Cataract 42	20
975		CYC003	Cyclotropia	20
976	c	MYP141	Myopia 5, Autosomal Dominant	20
977	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	20
978	P	ASP028	Asperger Syndrome, X-Linked 1	20
979		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	20
980	c	ADL084	Adult-Onset Myasthenia Gravis	20
981	P	STR111	Stromal Corneal Dystrophy	20
982	c	JVN038	Juvenile Myasthenia Gravis	20
983	P	MYP137	Myopia 1, X-Linked	20
984	c	ACQ027	Acquired Cutis Laxa	20
985		MCR317	Macrophthalmia, Colobomatous, with Microcornea	20
986		HMF007	Hemifacial Hyperplasia with Strabismus	20
987	c	ASP029	Asperger Syndrome, X-Linked 2	19
988	c	SPR049	Supranuclear Palsy, Progressive, 2	19
989	c	NYS012	Nystagmus 5, Congenital, X-Linked	19
990	c	MYP140	Myopia 17, Autosomal Dominant	19
991		MNF001	Monofixation Syndrome	19
992	c	LTB003	Ltbp4-Related Cutis Laxa	19
993	c	CNT121	Central Hypoventilation Syndrome, Congenital, 3	19
994		OPH014	Ophthalmomandibulomelic Dysplasia	19
995	c	ACQ002	Acquired Night Blindness	19
996	c	MYP044	Myopia 10	19
997	P	ATS469	Autosomal Monosomy	19
998		BTT011	Butterfly-Shaped Pigment Dystrophy	19
999	c	CHR088	Chronic Inflammation of Lacrimal Passage	18
1000	c	CNT026	Central Corneal Ulcer	18
1001	c	CRN218	Corneal Dystrophy, Fuchs Endothelial, 8	18
1002	c	FBL003	Fbln5-Related Cutis Laxa	18
1003	c	MYP144	Myopia 12, Autosomal Dominant	18
1004		ACR078	Acral Self-Healing Collodion Baby	18
1005		PRD026	Pre-Descemet Corneal Dystrophy	18
1006	c	KRT053	Keratoconus 7	18
1007	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	17
1008		PRG117	Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome	17
1009		BRW005	Brawny Scleritis	17
1010		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	17
1011		ESS005	Essential Iris Atrophy	17
1012	c	NNN032	Non-Infectious Posterior Uveitis	17
1013	c	MYP040	Myopia 7	17
1014	c	MYP048	Myopia 9	17
1015	c	CNG621	Congenital Myasthenic Syndrome 7	17
1016		RDL029	Radial Ray Hypoplasia with Choanal Atresia	17
1017		CRY037	Cryptophthalmia	17
1018	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	17
1019	c	MYP041	Myopia 8	17
1020	c	MYP133	Myopia 18, Autosomal Recessive	17
1021		ORB003	Orbital Tenonitis	17
1022		HRP038	Herpes Simplex Virus Stromal Keratitis	16
1023	c	SPN107	Spinocerebellar Ataxia 9	16
1024	c	ACT030	Acute Dacryoadenitis	16
1025		NMN008	Niemann-Pick Disease Type C, Severe Perinatal Form	16
1026	c	JVN036	Juvenile Sialidosis Type 2	16
1027	c	CHR035	Chronic Dacryoadenitis	16
1028	c	MYP069	Myopia 14	16
1029		APP006	Apperceptive Agnosia	16
1030	c	MYP147	Myopia 19, Autosomal Dominant	16
1031		ERL040	Early-Onset Sutural Cataract	16
1032	c	MYP143	Myopia 11, Autosomal Dominant	15
1033	c	HYP551	Hypotrichosis 9	15
1034	P	ACT070	Acute Inflammation of Lacrimal Passage	15
1035	c	HYP544	Hypotrichosis 10	15
1036	P	LGB001	Leg Absence Deformity Cataract	15
1037		PRX083	Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	15
1038	c	MYP145	Myopia 16, Autosomal Dominant	15
1039	c	NRB012	Neuroblastoma 5	15
1040	c	NRB016	Neuroblastoma 7	14
1041		ETH013	Euthyroid Graves Orbitopathy	14
1042		MLT117	Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	14
1043		CNG335	Congenital Ectropion Uveae	14
1044	c	ELN002	Eln-Related Cutis Laxa	14
1045	c	MYP134	Myopia 13, X-Linked	14
1046	c	EFM001	Efemp2-Related Cutis Laxa	13
1047		TRP011	Triopia	13
1048		PLZ009	Pelizaeus-Merzbacher Disease in Female Carriers	13
1049		ACT168	Acute Annular Outer Retinopathy	13
1050		SPR147	Superficial Corneal Dystrophy	13
1051	c	NRB011	Neuroblastoma 4	13
1052		ERL036	Early-Onset Posterior Subcapsular Cataract	13
1053		CLF040	Cleft Lip-Retinopathy Syndrome	12
1054		ORB018	Orbital Leiomyoma	12
1055		TXN001	Toxin-Mediated Infectious Botulism	12
1056		IDP036	Idiopathic Bilateral Vestibulopathy	12
1057	c	NRB013	Neuroblastoma 6	12
1058		ISL131	Isolated Foveal Hypoplasia	12
1059	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	11
1060	c	CTD001	Ctdp1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy	11
1061		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	11
1062	P	CNG595	Congenital Alacrima	11
1063	c	MYP084	Myopia 20, Autosomal Dominant	11
1064		SCL005	Scleroperikeratitis	11
1065	c	ALC031	Alacrima, Congenital, Autosomal Dominant	10
1066		3Q2004	3q26 Microduplication Syndrome	10
1067		OCL054	Ocular Motor Apraxia, Cogan Type	10
1068		MNM005	Minimal Pigment Oculocutaneous Albinism Type 1	10
1069		SGL001	Siegler Brewer Carey Syndrome	10
1070	c	SCN085	Secondary Ectropion	9
1071		INV017	Inverse Marcus-Gunn Phenomenon	9
1072		NBL002	Noble Bass Sherman Syndrome	9
1073	c	FML317	Familial Monosomy 7 Syndrome	9
1074		ISL071	Isolated Congenital Ectropion	9
1075	c	SPR048	Supranuclear Palsy, Progressive, 3	9
1076		NYS018	Nystagmus, Voluntary	9
1077	c	ALC032	Alacrima, Congenital, Autosomal Recessive	9
1078	c	PSD023	Pseudo-Gaucher Disease	9
1079		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	8
1080		HRM024	Hermansky-Pudlak Syndrome Due to Ap-3 Deficiency	8
1081	P	LTN030	Late-Onset Steinert Myotonic Dystrophy	8
1082		SYN127	Syndromic Ectopia Lentis	8
1083		LNS002	Lens-Induced Iridocyclitis	8
1084		LCR016	Lacrimal Drainage System Anomaly	7
1085		MCH005	Mechanical Lagophthalmos	7
1086	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	7
1087		SYN150	Syndromic Cataract	7
1088		PRG012	Progressive Peripheral Pterygium	7
1089		OCL075	Oculocutaneous or Ocular Albinism	7
1090		EPS002	Episcleritis Periodica Fugax	6
1091		GRY003	Grayson-Wilbrandt Corneal Dystrophy	6
1092	c	KLH009	Klhl7-Related Cold-Induced Sweating-Like Syndrome	6
1093		ERL041	Early-Onset Zonular Cataract	6
1094		NLX006	Neu-Laxova Syndrome Due to 3-Phosphoglycerate Dehydrogenase Deficiency	6
1095		SYN148	Syndromic Aniridia	6
1096	c	GRD008	Grid2-Related Spinocerebellar Ataxia	6
1097	c	TTL014	Total Autosomal Monosomy	6
1098		INT586	Intellectual Disability-Early-Onset Cataract-Microcephaly Syndrome	6
1099		NLX008	Neu-Laxova Syndrome Due to 3-Phosphoserine Phosphatase Deficiency	5
1100	c	RRD060	Rare Disorder of the Lacrimal Apparatus	5
1101		ISL130	Isolated Congenital Entropion	5
1102		SYN143	Syndromic Telecanthus	4
1103		SCR032	Scarring in Glaucoma Filtration Surgical Procedures	4
1104		ISL132	Isolated Megalopapilla	4
1105	c	SYS075	Systemic Diseases with Panuveitis	4
1106	c	RRL005	Rare Lens Disease	4
1107		SYN126	Syndromic Microspherophakia	4
1108		SYN147	Syndromic Ankyloblepharon Filiforme Adnatum	4
1109		LNS009	Lens Size Anomaly	4
1110		SYN145	Syndromic Epicanthus	3
1111		SYN130	Syndromic Lacrimal System Disorder	3
1112		LNS007	Lens Shape Anomaly	3
1113		CRN314	Craniostenosis with Strabismus	3
1114		CNG631	Congenital Aphakia-Iris Hypoplasia-Microphthalmia-Microcornea Syndrome	3
1115		CHR694	Chromosomal Anomaly with Cataract	3
1116		SYN129	Syndromic Chorioretinal Dystrophy	3
1117		INF183	Inflammatory/autoimmune Disorder Involving the Lacrimal System	3
1118		ISL146	Isolated Chorioretinal Dystrophy	3
1119		ISL144	Isolated Vitreoretinopathy	3
1120		SYN151	Syndromic Corneal Dystrophy	3
1121		SYN153	Syndromic Hyperopia	3
1122		RTN015	Retinal Cancer	52
1123		OCL009	Ocular Cancer	57
1124	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	58
1125	c	SKN068	Skin/hair/eye Pigmentation, Variation in, 3	26
1126	c	SKN070	Skin/hair/eye Pigmentation, Variation in, 8	15
1127	P	NRP066	Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy	43
1128	c	MSC036	Muscular Dystrophy-Dystroglycanopathy , Type C, 5	66
1129	c	MSC037	Muscular Dystrophy-Dystroglycanopathy , Type a, 4	60
1130	c	MSC104	Muscular Dystrophy-Dystroglycanopathy , Type C, 1	52
1131	c	MSC093	Muscular Dystrophy-Dystroglycanopathy , Type C, 3	52
1132	c	MSC048	Muscular Dystrophy-Dystroglycanopathy , Type B, 1	51
1133	c	MSC035	Muscular Dystrophy-Dystroglycanopathy , Type B, 5	50
1134		OCL022	Ocular Melanoma	50
1135	c	MSC108	Muscular Dystrophy-Dystroglycanopathy , Type C, 2	50
1136	c	MSC042	Muscular Dystrophy-Dystroglycanopathy , Type B, 6	50
1137	c	MSC103	Muscular Dystrophy-Dystroglycanopathy , Type C, 4	48
1138	c	MSC100	Muscular Dystrophy-Dystroglycanopathy , Type C, 9	46
1139	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	45
1140	c	MSC111	Muscular Dystrophy-Dystroglycanopathy , Type C, 7	42
1141	c	MSC046	Muscular Dystrophy-Dystroglycanopathy , Type B, 3	37
1142	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	37
1143	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	36
1144	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	35
1145	c	MSC182	Muscular Dystrophy-Dystroglycanopathy , Type C, 15	33
1146	c	MSC044	Muscular Dystrophy-Dystroglycanopathy , Type B, 2	33
1147	c	MSC099	Muscular Dystrophy-Dystroglycanopathy , Type B, 14	30
1148	c	MSC038	Muscular Dystrophy-Dystroglycanopathy , Type B, 4	25
1149	c	MSC188	Muscular Dystrophy-Dystroglycanopathy , Type C, 8	24
1150	c	MSC200	Muscular Dystrophy-Dystroglycanopathy , Type B, 15	20
1151	c	MSC203	Muscular Dystrophy-Dystroglycanopathy Type B	10
1152		OPT008	Optic Nerve Neoplasm	27
1153	c	MSC097	Muscular Dystrophy-Dystroglycanopathy , Type a, 14	30
1154		ENC043	Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration	19
1155	c	NRP067	Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy	30
1156	c	NRP068	Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy	21
1157	P	LYM118	Lymphoma	65
1158		KNS001	Kniest Dysplasia	54
1159		ECZ002	Eczema Herpeticum	44
1160		RFM001	Roifman Syndrome	37
1161	c	ADL001	Adult Lymphoma	35
1162	c	CNG553	Congenital Muscular Dystrophy-Dystroglycanopathy Type A3	33
1163		WYB002	Wyburn-Mason Syndrome	30
1164	c	CNG550	Congenital Muscular Dystrophy-Dystroglycanopathy A14	29
1165	c	EYL003	Eye Lymphoma	28
1166		KPR002	Kapur-Toriello Syndrome	27
1167	c	SKN064	Skin/hair/eye Pigmentation, Variation in, 6	14
1168	c	SKN072	Skin/hair/eye Pigmentation, Variation in, 10	13
1169		BLT005	Bilateral Meningioma of Optic Nerve	10
1170		FLT006	Floating-Harbor Syndrome	55
1171	c	FBR046	Fibrosis of Extraocular Muscles, Congenital, 1	56
1172	c	USH037	Usher Syndrome, Type Iia	55
1173		OPT007	Optic Nerve Glioma	41
1174	c	PRM023	Pre-Malignant Neoplasm	29
1175		NRD073	Neurodevelopmental Disorder with Visual Defects and Brain Anomalies	24
1176		HLP033	Halperin-Birk Syndrome	23
1177		MLG010	Malignant Eyelid Melanoma	8
1178	P	EYC001	Eye Carcinoma in Situ	7
1179		ALL005	Allergic Contact Dermatitis of Eyelid	7
1180	P	MCH002	Machado-Joseph Disease	63
1181	P	NRN021	Neuronal Ceroid Lipofuscinosis	61
1182	c	LSS005	Lissencephaly 1	59
1183	P	LSS002	Lissencephaly	54
1184		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	49
1185	c	LSS010	Lissencephaly 4	46
1186	c	LSS009	Lissencephaly 3	43
1187	c	LSS025	Lissencephaly 5	39
1188	c	LSS042	Lissencephaly 10	39
1189	c	LSS035	Lissencephaly 8	35
1190	P	SKN067	Skin/hair/eye Pigmentation, Variation in, 2	32
1191	c	BRN149	Brain Small Vessel Disease 1	31
1192		EYL002	Eyelid Carcinoma	27
1193	c	CNG554	Congenital Muscular Dystrophy-Dystroglycanopathy Type A1	24
1194		ICH079	Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features	24
1195		NRV002	Nerve Fibre Bundle Defect	20
1196	c	SKN066	Skin/hair/eye Pigmentation, Variation in, 5	19
1197		WLF014	Wolfram Syndrome, Mitochondrial Form	19
1198	c	LSS044	Lissencephaly 6	18
1199	c	MCH012	Machado-Joseph Disease Type 1	18
1200	c	CNG556	Congenital Muscular Dystrophy-Dystroglycanopathy Type A10	18
1201	c	MCH013	Machado-Joseph Disease Type 3	17
1202	c	MCH014	Machado-Joseph Disease Type 2	17
1203	c	CNG548	Congenital Muscular Dystrophy-Dystroglycanopathy Type A8	9
1204	c	CNG549	Congenital Muscular Dystrophy-Dystroglycanopathy Type A9	9
1205	P	PLC011	Pilocytic Astrocytoma	66
1206		SPN008	Spondyloepiphyseal Dysplasia Congenita	57
1207		ONC002	Onchocerciasis	50
1208		BRN139	Brain Small Vessel Disease 1 with or Without Ocular Anomalies	38
1209		SNJ002	Snijders Blok-Campeau Syndrome	33
1210	c	JVN009	Juvenile Pilocytic Astrocytoma	33
1211	c	CNG546	Congenital Muscular Dystrophy-Dystroglycanopathy Type a	31
1212		NRD097	Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline	22
1213	c	CNR041	Cone-Rod Dystrophy and Hearing Loss 2	19
1214		HYP874	Hypotaurinemic Retinal Degeneration and Cardiomyopathy	19
1215	c	CNG411	Congenital Disorder of Glycosylation, Type in	67
1216	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	61
1217		CYS010	Cystinosis	59
1218	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	59
1219		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	58
1220	P	FML023	Familial Hemiplegic Migraine	54
1221		BLL003	Bell's Palsy	53
1222	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	52
1223	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	52
1224	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	51
1225	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	50
1226	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	49
1227	c	CNG199	Congenital Disorder of Glycosylation, Type Im	49
1228	c	USH039	Usher Syndrome, Type Ic	48
1229	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	48
1230	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	48
1231	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	47
1232	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	47
1233	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	47
1234	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	46
1235	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	46
1236	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	45
1237	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	45
1238	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	45
1239	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	44
1240	c	CNG198	Congenital Disorder of Glycosylation, Type Il	42
1241	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	42
1242	c	CNG379	Congenital Disorder of Glycosylation, Type It	42
1243	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	42
1244	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	41
1245	c	KNN007	Kenny-Caffey Syndrome, Type 2	41
1246	c	CNG195	Congenital Disorder of Glycosylation, Type Id	41
1247	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	40
1248	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	40
1249	c	KNN009	Kenny-Caffey Syndrome, Type 1	39
1250	c	BRN140	Brain Small Vessel Disease 2	39
1251	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	37
1252	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	36
1253	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	36
1254	c	CNG188	Congenital Disorder of Glycosylation, Type if	35
1255	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	35
1256	c	BRN141	Brain Small Vessel Disease 3	34
1257	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	34
1258		KPP002	Keppen-Lubinsky Syndrome	32
1259	P	BRN150	Brain Small Vessel Disease	28
1260	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	28
1261	c	CNG626	Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive	27
1262		CLC058	Clcn2-Related Leukoencephalopathy	26
1263	c	MCR214	Microphthalmia, Isolated, with Coloboma 9	26
1264	c	CNG623	Congenital Disorder of Glycosylation, Type Iiw	26
1265	c	CNG622	Congenital Disorder of Glycosylation, Type 2v	26
1266	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	25
1267	c	CNG627	Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant	24
1268	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	23
1269		INT334	Intellectual Developmental Disorder and Retinitis Pigmentosa	21
1270		FCL068	Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome	18
1271	c	CL4005	Col4a1-Related Brain Small-Vessel Disease	9
1272	c	CNG628	Congenital Disorder of Glycosylation Iw	9
1273	P	DSR041	Disorder of Multiple Glycosylation	6
1274		LBR037	Leber Hereditary Optic Neuropathy with Demyelinating Disease of Cns	3
1275	P	CRN037	Craniosynostosis	66
1276	P	HRM001	Hermansky-Pudlak Syndrome	63
1277		PTT046	Pituitary Hormone Deficiency, Combined, 2	63
1278	P	EPD009	Epidermolysis Bullosa Dystrophica	62
1279		TRN015	Transient Cerebral Ischemia	61
1280	c	LSS006	Lissencephaly 2	59
1281		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	57
1282	c	HRM005	Hermansky-Pudlak Syndrome 1	57
1283	c	HRM017	Hermansky-Pudlak Syndrome 2	56
1284	c	CRN278	Craniosynostosis 1	53
1285		WRN002	Wernicke-Korsakoff Syndrome	51
1286	c	HRM009	Hermansky-Pudlak Syndrome 6	50
1287		MNL001	Monilethrix	49
1288	c	HRM006	Hermansky-Pudlak Syndrome 3	49
1289	c	WRD032	Waardenburg Syndrome, Type 2a	49
1290		PTT004	Pituitary Apoplexy	49
1291	c	EPD076	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	48
1292		OCL069	Ocular Motor Apraxia	48
1293	c	HRM008	Hermansky-Pudlak Syndrome 5	48
1294	c	EPD071	Epidermolysis Bullosa Dystrophica, Autosomal Dominant	47
1295	c	HRM012	Hermansky-Pudlak Syndrome 9	46
1296	P	SPN202	Spinocerebellar Ataxia, X-Linked 1	46
1297	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	44
1298	c	JBR018	Joubert Syndrome 4	43
1299		MND025	Mandibulofacial Dysostosis with Alopecia	43
1300	c	USH044	Usher Syndrome, Type Iiib	42
1301	c	HRM007	Hermansky-Pudlak Syndrome 4	41
1302	c	HRM010	Hermansky-Pudlak Syndrome 7	40
1303	c	DVL064	Developmental and Epileptic Encephalopathy 38	40
1304		SWN003	Sweeney-Cox Syndrome	39
1305	c	SPN364	Spinocerebellar Ataxia, X-Linked 3	39
1306	c	CRN277	Craniosynostosis 2	38
1307	c	HRM011	Hermansky-Pudlak Syndrome 8	38
1308	c	SPN363	Spinocerebellar Ataxia, X-Linked 4	35
1309	c	WRD022	Waardenburg Syndrome, Type 2d	35
1310		EXD009	Exudative Vitreoretinopathy 2, X-Linked	35
1311	c	WRD029	Waardenburg Syndrome, Type 2b	34
1312		FBR094	Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement	34
1313		INT313	Intellectual Developmental Disorder with Cardiac Arrhythmia	34
1314		HYD065	Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies	34
1315	c	CRN281	Craniosynostosis 7	32
1316		HYP346	Hypotrichosis and Recurrent Skin Vesicles	32
1317	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	29
1318		BRW006	Brown Syndrome	28
1319	c	CRN217	Craniosynostosis 3	28
1320	c	CRN221	Craniosynostosis 4	28
1321	P	CNR040	Cone-Rod Dystrophy and Hearing Loss 1	27
1322	c	HRM023	Hermansky-Pudlak Syndrome 11	26
1323		LKD026	Leukodystrophy, Progressive, Early Childhood-Onset	26
1324	c	HRM020	Hermansky-Pudlak Syndrome 10	26
1325	c	CRN256	Craniosynostosis 6	25
1326		CLR122	Ciliary Body Cancer	25
1327	c	DVL106	Developmental and Epileptic Encephalopathy 83	25
1328		8P2002	8p23.1 Duplication Syndrome	24
1329		MYC075	Myoclonus, Intractable, Neonatal	24
1330	c	INT477	Intellectual Developmental Disorder, Autosomal Recessive 74	24
1331	c	CRN216	Craniosynostosis 5	23
1332		SHK001	Shaken Baby Syndrome	23
1333	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	20
1334		ABS003	Absence of Septum Pellucidum	18
1335		OST142	Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	14
1336		DWR021	Dwarfism, Mental Retardation, and Eye Abnormality	13
1337		RRR001	Rere-Related Disorders	12
1338		DVL026	Developmental Defect of the Eye	10
1339		FRD011	Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness	9
1340		RRG076	Rare Genetic Eye Disease	8
1341		ALG005	Al Gazali Sabrinathan Nair Syndrome	7
1342	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	7
1343		GNT069	Genetic Developmental Defect of the Eye	6
1344		SNS025	Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth	5
1345		RVL001	Ruvalcaba Churesigaew Myhre Syndrome	5
1346	c	CRN093	Craniosynostosis Autosomal Dominant	4
1347	c	RRG052	Rare Genetic Disorder of the Posterior Segment of the Eye	3
1348		GNT080	Genetic Central Nervous System and Retinal Vascular Disease	3
1349		RRG047	Rare Genetic Retinal Vasculopathy	3
1350		RRG071	Rare Genetic Disorder of the Visual Organs	3
1351	c	MCL042	Macular Degeneration, Age-Related, 1	82
1352	P	HNT016	Huntington Disease	72
1353	P	FRG001	Fragile X Syndrome	69
1354	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	69
1355		SMT004	Smith-Lemli-Opitz Syndrome	69
1356	P	MYS003	Myasthenia Gravis	69
1357	P	RTH006	Rothmund-Thomson Syndrome, Type 2	69
1358		MLT163	Multiple Pterygium Syndrome, Escobar Variant	68
1359		ACH022	Achalasia-Addisonianism-Alacrima Syndrome	66
1360	P	CRN015	Cornelia De Lange Syndrome	66
1361	P	PLZ001	Pelizaeus-Merzbacher Disease	65
1362	P	CFF008	Coffin-Siris Syndrome 1	64
1363	P	ZLL001	Zellweger Syndrome	64
1364	c	MCP043	Mucopolysaccharidosis, Type Iiia	64
1365	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	64
1366	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	63
1367	c	GLC097	Glaucoma 3, Primary Congenital, a	63
1368	P	EPL198	Epilepsy, Myoclonic Juvenile	62
1369	c	LTN004	Late-Onset Retinal Degeneration	62
1370		STR039	Sturge-Weber Syndrome	62
1371	c	CRN139	Cornelia De Lange Syndrome 1	62
1372	P	STR022	Stargardt Disease	62
1373	P	TRC072	Treacher Collins Syndrome 1	62
1374		PPL048	Papillorenal Syndrome	62
1375		LCR014	Lacrimoauriculodentodigital Syndrome	61
1376		DPM001	Dopamine Beta-Hydroxylase Deficiency	60
1377	P	CTR002	Cataract	60
1378		GLC012	Galactosialidosis	59
1379	P	STC001	Stickler Syndrome	58
1380		CRN276	Corneal Endothelial Dystrophy	57
1381	P	STR020	Strabismus	57
1382	P	UVT001	Uveitis	57
1383	P	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	56
1384	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	56
1385	c	MCP048	Mucopolysaccharidosis, Type Ivb	56
1386	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	56
1387	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	56
1388	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	56
1389	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	56
1390	c	ANT034	Anterior Uveitis	56
1391	P	MYP006	Myopia	56
1392	c	GLC111	Galactosemia Ii	55
1393	P	FRN036	Frontonasal Dysplasia 1	55
1394	c	INT064	Intermediate Uveitis	55
1395		OHD004	Ohdo Syndrome	54
1396		ICH054	Ichthyosis, X-Linked	54
1397		MSC077	Muscle Eye Brain Disease	54
1398		OCL008	Oculopharyngeal Muscular Dystrophy	54
1399	P	CNG010	Congenital Stationary Night Blindness	54
1400	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	54
1401	P	RTN018	Retinal Disease	54
1402	P	CHR637	Choroidal Dystrophy, Central Areolar, 1	53
1403		FRY006	Fryns Microphthalmia Syndrome	53
1404	P	NRD007	Neurodegeneration with Brain Iron Accumulation	52
1405	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	52
1406	c	GLL038	Galloway-Mowat Syndrome 1	52
1407	P	JVN008	Juvenile Glaucoma	51
1408	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	51
1409		ALL009	Allergic Conjunctivitis	51
1410	c	PST005	Posterior Uveitis	51
1411		HYP801	Hyperferritinemia with or Without Cataract	51
1412		EXS001	Exostosis	50
1413		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	50
1414	P	BLP047	Blepharocheilodontic Syndrome 1	50
1415	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	49
1416	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	49
1417	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	49
1418	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	49
1419		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	49
1420		AST006	Astigmatism	48
1421		BLL004	Bullous Keratopathy	48
1422		SNG007	Sengers Syndrome	48
1423	c	GRS013	Griscelli Syndrome, Type 1	48
1424	c	USH020	Usher Syndrome, Type Iic	48
1425	P	TTR031	Tetraamelia Syndrome	48
1426	c	CRN134	Cornelia De Lange Syndrome 2	47
1427		EPT021	Epithelial Recurrent Erosion Dystrophy	47
1428		PLR023	Polr3-Related Leukodystrophy	47
1429	c	ANT085	Anterior Segment Dysgenesis 5	47
1430	P	MTC010	Mitochondrial Dna Depletion Syndrome	47
1431	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	47
1432		OCC002	Occult Macular Dystrophy	47
1433	c	ZLL011	Zellweger Spectrum Disorder	47
1434		CHR492	Chromosome 13q14 Deletion Syndrome	47
1435		SVR058	Severe Early-Childhood-Onset Retinal Dystrophy	47
1436		PTH003	Pathologic Nystagmus	47
1437	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	46
1438	c	BRW008	Brown-Vialetto-Van Laere Syndrome 2	46
1439		VRN004	Vernal Keratoconjunctivitis	46
1440	P	GLL032	Galloway-Mowat Syndrome	46
1441		JLL001	Jalili Syndrome	46
1442	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	45
1443	P	DNR001	Duane Retraction Syndrome	45
1444		ARC025	Arachnoid Cysts, Intracranial	45
1445		PRP026	Peripheral Retinal Degeneration	45
1446	c	FML363	Familial Adult Myoclonic Epilepsy	44
1447	c	NGH010	Night Blindness, Congenital Stationary, Autosomal Dominant 2	44
1448	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	44
1449		VTR003	Vitreous Detachment	44
1450	P	CRN026	Corneal Edema	44
1451	P	PLM158	Palmoplantar Keratoderma and Congenital Alopecia 1	44
1452	c	NPH067	Nephronophthisis 12	44
1453	P	ECT005	Ectropion	44
1454	c	ATM099	Autoimmune Uveitis	44
1455		EST005	Esotropia	43
1456	c	CTR130	Cataract 9, Multiple Types	43
1457	c	CFF009	Coffin-Siris Syndrome 4	43
1458	c	MYC083	Myoclonic Epilepsy, Familial Infantile	43
1459	c	MCR212	Microphthalmia, Syndromic 12	42
1460	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	42
1461		EXT022	Exotropia	42
1462	c	MCP051	Mucopolysaccharidosis, Type Ix	42
1463		PRL047	Prolonged Electroretinal Response Suppression	42
1464		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	42
1465	c	CRD257	Ceroid Lipofuscinosis, Neuronal, 4	42
1466		CHR382	Chromosome 18q Deletion Syndrome	42
1467		IVC001	Ivic Syndrome	42
1468		SCT002	Scotoma	42
1469	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	42
1470		ORB006	Orbital Cellulitis	42
1471		CRN237	Corneal Dystrophy, Avellino Type	41
1472	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	41
1473	P	CRN024	Corneal Disease	41
1474		OCL015	Oculomotor Apraxia	41
1475	c	CHR086	Chronic Conjunctivitis	41
1476		LCR013	Lacrimal Duct Defect	41
1477		NRR001	Neuroretinitis	41
1478	c	PRM032	Primary Congenital Glaucoma	41
1479		ANG004	Angioid Streaks	41
1480		EYL005	Eyelid Disease	41
1481	c	PLM149	Palmoplantar Keratoderma and Congenital Alopecia 2	40
1482		LTH002	Lathosterolosis	40
1483	c	CRN209	Cornelia De Lange Syndrome 5	40
1484	c	GRS012	Griscelli Syndrome, Type 3	40
1485	c	MCR312	Microphthalmia, Syndromic 10	40
1486		SYM002	Sympathetic Ophthalmia	40
1487		FCH002	Fuchs' Heterochromic Uveitis	40
1488	c	HYP525	Hypotrichosis 2	40
1489	P	OGC005	Oguchi Disease	40
1490	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	40
1491		ATX023	Ataxia, Sensory, 1, Autosomal Dominant	39
1492	c	CTR125	Cataract 7	39
1493	c	WRB005	Warburg Micro Syndrome 4	39
1494		FRS019	Farsightedness	39
1495	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	39
1496	c	CTR132	Cataract 3, Multiple Types	39
1497		RNG003	Ring Dermoid of Cornea	39
1498	c	CFF011	Coffin-Siris Syndrome 6	39
1499	c	CTR115	Cataract 16, Multiple Types	39
1500		PRM024	Primary Angle-Closure Glaucoma	39
1501	P	PRS013	Prosopagnosia	39
1502	P	RHM037	Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	39
1503	c	HYP559	Hypotrichosis 8	39
1504	P	FML362	Familial Isolated Hypoparathyroidism	39
1505	c	CTR170	Cataract 30, Multiple Types	39
1506	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	38
1507	c	CTR113	Cataract 11, Multiple Types	38
1508		CRN022	Corneal Degeneration	38
1509		EXC003	Excessive Tearing	38
1510	c	GLC083	Glaucoma 3, Primary Infantile, B	38
1511	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	38
1512	c	NGH008	Night Blindness, Congenital Stationary, Autosomal Dominant 3	38
1513	c	STC013	Stickler Syndrome, Type Ii	38
1514	c	CFF007	Coffin-Siris Syndrome 2	38
1515	c	CFF010	Coffin-Siris Syndrome 3	38
1516	c	ANT084	Anterior Segment Dysgenesis 3	38
1517		OPH002	Ophthalmia Neonatorum	38
1518	c	CTR145	Cataract 44	37
1519		CRN274	Corneal Dystrophy, Posterior Amorphous	37
1520	c	ACT067	Acute Conjunctivitis	37
1521		INT042	Internuclear Ophthalmoplegia	37
1522		GRN055	Granular Corneal Dystrophy	37
1523		UVL008	Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability	37
1524	c	FRN033	Frontonasal Dysplasia 2	37
1525		RCR001	Recurrent Corneal Erosion	37
1526		DGN002	Degenerative Myopia	36
1527	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	36
1528	c	TRC071	Treacher Collins Syndrome 3	36
1529	c	NGH021	Night Blindness, Congenital Stationary, Autosomal Dominant 1	36
1530		CHR079	Choroid Disease	36
1531		HRD016	Hereditary Retinal Dystrophy	36
1532	c	CTR129	Cataract 31, Multiple Types	36
1533		OCL010	Ocular Hypotension	35
1534	c	CTR181	Cataract 18	35
1535		XRD026	Xeroderma Pigmentosum-Cockayne Syndrome Complex	35
1536		CNJ007	Conjunctivochalasis	35
1537	c	NGH027	Night Blindness, Congenital Stationary, Type 1c	35
1538	c	EPL155	Epilepsy, Progressive Myoclonic, 8	35
1539	c	RTN237	Retinitis Pigmentosa 91	34
1540	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	34
1541	c	CTR122	Cataract 5, Multiple Types	34
1542		BRN041	Bornholm Eye Disease	34
1543		CTR014	Cataract Microcornea Syndrome	34
1544	c	CTR183	Cataract 38	34
1545	c	ALB015	Albinism, Oculocutaneous, Type V	34
1546	c	EPL134	Epilepsy, Progressive Myoclonic 7	34
1547		PPL019	Papillary Conjunctivitis	34
1548	c	INF122	Infantile Krabbe Disease	34
1549		LGP001	Lagophthalmos	34
1550	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	34
1551		NRD139	Neurodevelopmental Disorder with Hearing Loss, Seizures, and Brain Abnormalities	34
1552		ANS004	Anisometropia	33
1553		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	33
1554	c	INF019	Infectious Anterior Uveitis	33
1555		RTN123	Retinochoroidal Coloboma	33
1556	c	MCR228	Microphthalmia, Syndromic 13	33
1557		YHV001	You-Hoover-Fong Syndrome	33
1558	c	CFF014	Coffin-Siris Syndrome 9	33
1559	c	CTR102	Cataract 2, Multiple Types	33
1560		MCP039	Mucoepithelial Dysplasia, Hereditary	33
1561	c	CTR131	Cataract 17, Multiple Types	32
1562		CHR077	Chorioretinal Scar	32
1563	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	32
1564	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	32
1565	P	KNN002	Kenny-Caffey Syndrome	32
1566	c	EPL009	Epilepsy Progressive Myoclonic Type 3	32
1567	c	GLL040	Galloway-Mowat Syndrome 3	32
1568		CRN273	Corneal Dystrophy, Subepithelial Mucinous	32
1569	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	31
1570	c	EPL188	Epilepsy, Progressive Myoclonic, 10	31
1571		TTR027	Tetrasomy 15q26	31
1572		PTH001	Pthirus Pubis Infestation	30
1573		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	30
1574		LGH012	Leigh Syndrome with Leukodystrophy	30
1575		LGH013	Leigh Syndrome with Cardiomyopathy	30
1576		3MC004	3mc Syndrome 3	30
1577		DRM043	Dermochondrocorneal Dystrophy	30
1578	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	30
1579	c	BRD050	Bardet-Biedl Syndrome 21	29
1580	c	FRN032	Frontonasal Dysplasia 3	29
1581		WLD004	Wildervanck Syndrome	29
1582	c	SNR015	Senior-Loken Syndrome 8	29
1583	c	KRT029	Keratoconus 1	29
1584	c	CFF017	Coffin-Siris Syndrome 12	29
1585	c	CTR141	Cataract 21, Multiple Types	29
1586	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	29
1587		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	29
1588	c	CFF013	Coffin-Siris Syndrome 8	29
1589	P	MCL035	Macular Dystrophy, Retinal, 2	29
1590	c	INH030	Inherited Retinal Disorder	28
1591	c	EPL154	Epilepsy, Progressive Myoclonic, 9	28
1592		ANS002	Aniseikonia	28
1593		IMM002	Immature Cataract	28
1594		HYP047	Hypertropia	28
1595		PST044	Postorgasmic Illness Syndrome	28
1596		CRB204	Cerebellar, Ocular, Craniofacial, and Genital Syndrome	28
1597	c	MYC086	Myoclonic Epilepsy, Juvenile 4	28
1598		PTC005	Pituicytoma	28
1599	c	LKD028	Leukodystrophy, Hypomyelinating, 15	28
1600	c	PRS058	Prosopagnosia, Hereditary	28
1601	c	CFF012	Coffin-Siris Syndrome 7	27
1602	c	MYC068	Myoclonic Epilepsy of Infancy	27
1603	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	27
1604		VST003	Vestibular Nystagmus	27
1605	c	CTR180	Cataract 22, Multiple Types	27
1606	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	27
1607	c	HYP515	Hypotrichosis 3	27
1608	c	DVL101	Developmental and Epileptic Encephalopathy 78	27
1609	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	26
1610		CHR252	Chromosome 5p Duplication	26
1611	c	PLZ002	Pelizaeus-Merzbacher-Like Disease	26
1612	c	CTR116	Cataract 15, Multiple Types	26
1613	c	ANT067	Anterior Segment Dysgenesis 8	26
1614	P	ACT077	Acute Orbital Inflammation	26
1615	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	26
1616	c	ANT087	Anterior Segment Dysgenesis 6	26
1617	c	CFF006	Coffin-Siris Syndrome 5	26
1618		TRN011	Transient Refractive Change	26
1619		PRG122	Prognathism, Mandibular	26
1620	c	GLL042	Galloway-Mowat Syndrome 5	26
1621		NNS134	Non-Syndromic Bicoronal Craniosynostosis	26
1622	c	TTR028	Tetraamelia Syndrome 1	26
1623	c	CTR105	Cataract 12, Multiple Types	26
1624	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	26
1625	c	OCL081	Oculocutaneous Albinism, Type Viii	26
1626		PRT091	Partial Cryptophthalmia	26
1627		EXP002	Exposure Keratitis	26
1628		YMN001	Yemenite Deaf-Blind Hypopigmentation Syndrome	25
1629		SRP002	Serpiginous Choroiditis	25
1630		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	25
1631	c	GLL045	Galloway-Mowat Syndrome 6	25
1632	c	SNR005	Senior-Loken Syndrome 5	25
1633	c	GLL046	Galloway-Mowat Syndrome 7	25
1634		HRP011	Herpes Zoster Ophthalmicus	25
1635		ARG003	Argyll Robertson Pupil	25
1636	c	TTR029	Tetraamelia Syndrome 2	25
1637	c	BLP049	Blepharocheilodontic Syndrome 2	25
1638	c	GLL041	Galloway-Mowat Syndrome 4	25
1639	c	SNR016	Senior-Loken Syndrome 9	25
1640		PRP102	Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development	25
1641		SHP004	Shprintzen Omphalocele Syndrome	24
1642	c	GLC054	Glaucoma 3, Primary Congenital, D	24
1643		VSL005	Visual Pathway Disease	24
1644		PRL014	Paralytic Squint	24
1645		ORB007	Orbital Cyst	24
1646		OCL070	Oculopalatocerebral Syndrome	24
1647		ATX037	Ataxia-Deafness-Retardation Syndrome	24
1648	c	CTR165	Cataract 19, Multiple Types	24
1649	c	CHR093	Chronic Orbital Inflammation	24
1650		MCR220	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus	24
1651	c	MTC234	Mitochondrial Dna Depletion Syndrome 16b	24
1652		CLB011	Coloboma of Macula with Type B Brachydactyly	23
1653	c	CTR162	Cataract 47	23
1654		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	23
1655	c	MTC204	Mitochondrial Dna Depletion Syndrome 18	23
1656		CHR158	Charles Bonnet Syndrome	23
1657	c	GLL053	Galloway-Mowat Syndrome 10	23
1658	c	EPL254	Epilepsy, Progressive Myoclonic, 11	23
1659	c	CFF016	Coffin-Siris Syndrome 11	23
1660	c	MCR217	Microphthalmia, Syndromic 11	23
1661		PNG001	Pinguecula	23
1662		CCT004	Cicatricial Lagophthalmos	23
1663	c	MTC236	Mitochondrial Dna Depletion Syndrome 20	23
1664	c	DVL082	Developmental and Epileptic Encephalopathy 58	23
1665	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
1666		ORB019	Orbital Margin, Hypoplasia of	23
1667		THL003	Thelaziasis	23
1668		CTR188	Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy	23
1669	c	GLL047	Galloway-Mowat Syndrome 8	23
1670		FLY003	Flynn-Aird Syndrome	23
1671	c	HYP867	Hypoparathyroidism, Familial Isolated, 2	23
1672		SCL014	Scleral Staphyloma	23
1673		CTF001	Catifa Syndrome	23
1674	c	MYC085	Myoclonic Epilepsy, Juvenile 3	23
1675		CNG357	Congenital Symblepharon	23
1676		CTR027	Cataract-Glaucoma	22
1677	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	22
1678		GRN016	Grant Syndrome	22
1679	c	CTR184	Cataract 39, Multiple Types	22
1680	P	ATM076	Autoimmune Retinopathy	22
1681	c	CHR059	Chronic Endophthalmitis	22
1682		INT392	Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures	22
1683	c	STC012	Stickler Syndrome, Type Iv	22
1684	c	CTR106	Cataract 20, Multiple Types	22
1685	c	MTC182	Mitochondrial Dna Depletion Syndrome 16	22
1686	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	22
1687	c	EPL210	Epilepsy, Progressive Myoclonic, 6	22
1688		CMB069	Combined Hamartoma of the Retina and Retinal Pigment Epithelium	22
1689		EXF002	Exfoliative Ichthyosis	22
1690	c	RHM033	Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	22
1691	c	KRT075	Keratoconus 9	22
1692	c	RNG012	Ring Chromosome 17	22
1693	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	22
1694	c	GLC089	Glaucoma 3, Primary Congenital, E	22
1695		BLN008	Blind Hypotensive Eye	21
1696	c	MTC213	Mitochondrial Dna Depletion Syndrome 19	21
1697	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	21
1698		OCL043	Oculorenocerebellar Syndrome	21
1699	c	EPL217	Epilepsy, Juvenile Myoclonic 10	21
1700	P	IDP049	Idiopathic Anterior Uveitis	21
1701	c	TRC126	Treacher Collins Syndrome 4	21
1702	c	CTR160	Cataract 45	21
1703	c	STC020	Stickler Syndrome, Type Vi	21
1704		ACT235	Acute Macular Neuroretinopathy	21
1705		SPS087	Spasmus Nutans	21
1706	c	MSC139	Mosaic Variegated Aneuploidy Syndrome 3	21
1707		DRM015	Dermoids of Cornea	21
1708	c	CTR144	Cataract 43	21
1709		PHK008	Phakomatosis Cesioflammea	21
1710		SYN149	Syndromic Rod-Cone Dystrophy	21
1711		CRN007	Corneal Staphyloma	21
1712		NCL001	Nuclear Senile Cataract	21
1713	c	NGH022	Night Blindness, Congenital Stationary, Type 1g	21
1714		PNC059	Punctate Inner Choroidopathy	21
1715		AMB007	Amoebic Keratitis	21
1716	c	MTC200	Mitochondrial Dna Depletion Syndrome 17	20
1717	c	GLL052	Galloway-Mowat Syndrome 9	20
1718	c	EPL257	Epilepsy, Progressive Myoclonic, 12	20
1719		RTC011	Reticular Dystrophy of Retinal Pigment Epithelium	20
1720	c	ANR046	Aniridia 3	20
1721		IDP047	Idiopathic Panuveitis	20
1722		MCR381	Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1	20
1723	c	STC011	Stickler Syndrome, Type V	20
1724		ITR001	Iatrogenic Botulism	20
1725		EPD051	Epidermolysis Bullosa Simplex with Anodontia/hypodontia	20
1726		EPB002	Epiblepharon	19
1727		SPC024	Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease	19
1728		CNT088	Central Cloudy Dystrophy of Francois	19
1729		PNH003	Pinheiro Freire-Maia Miranda Syndrome	19
1730	c	INF152	Infectious Posterior Uveitis	19
1731		CMP074	Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye	19
1732	c	TYS005	Tay-Sachs Disease, B1 Variant	19
1733		INH013	Inhalational Botulism	19
1734	c	MCR108	Microphthalmia, Isolated 7	19
1735		ACH040	Achoo Syndrome	19
1736		HRD017	Hordeolum Externum	19
1737		PLZ007	Pelizaeus-Merzbacher Disease, Classic Form	18
1738	c	KRT040	Keratoconus 3	18
1739		DBL001	Double Pterygium	18
1740		OPT077	Optic Disc Pit	18
1741		HRM026	Hermansky-Pudlak Syndrome Due to Bloc-2 Deficiency	18
1742	c	KRT050	Keratoconus 5	18
1743		HRM025	Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency	18
1744		HYP667	Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	17
1745	c	CNG596	Congenital Ectropion	17
1746	c	SCN003	Secondary Corneal Edema	17
1747		MCR078	Microphthalmia Microtia Fetal Akinesia	17
1748	c	KRT052	Keratoconus 6	17
1749	c	SX2003	Six2-Related Frontonasal Dysplasia	17
1750		INT008	Intermittent Squint	17
1751		DST082	Distal Trisomy 10q	17
1752		VNB001	Van Benthem-Driessen-Hanveld Syndrome	17
1753		VSP001	Vasoproliferative Tumor of the Retina	17
1754		TRN026	Tranebjaerg Svejgaard Syndrome	17
1755		LVC001	Levic Stefanovic Nikolic Syndrome	17
1756		CNG362	Congenital Trochlear Nerve Palsy	17
1757		CSK001	Cask-Related Disorders	16
1758		PRG115	Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome	16
1759		ECT016	Ectodermal Dysplasia Blindness	16
1760		BNC002	Binocular Vision Disease	16
1761		INT176	Intraocular Medulloepithelioma	16
1762		CNG457	Congenital Oculomotor Nerve Palsy	16
1763	c	LTN017	Late-Infantile/juvenile Krabbe Disease	16
1764		NND003	Non-Distal Trisomy 10q	16
1765		CRN324	Corneal Endotheliitis	16
1766		ERL037	Early-Onset Lamellar Cataract	16
1767	c	MTC014	Mitochondrial Dna Deletion Syndromes	15
1768		APL011	Aplasia Cutis Myopia	15
1769		MRC008	Mrcs Syndrome	15
1770	c	PST110	Posterior Corneal Dystrophy	15
1771		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	15
1772	c	KRT054	Keratoconus 8	15
1773	c	KRT039	Keratoconus 2	15
1774		NRD176	Neurodegeneration, Childhood-Onset, with Multisystem Involvement Due to Mitochondrial Dysfunction	15
1775		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	15
1776		OLG014	Oligocone Trichromacy	15
1777	c	EPL186	Epilepsy, Juvenile Myoclonic 9	15
1778		INF184	Infective Keratitis	15
1779	c	ADL101	Adult-Onset Steinert Myotonic Dystrophy	15
1780	P	NNN030	Non-Infectious Anterior Uveitis	14
1781		FLC004	Fleck Retina of Kandori	14
1782		CLM004	Climatic Droplet Keratopathy	14
1783		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1784	c	CHR665	Choroidal Dystrophy, Central Areolar, 3	14
1785	c	GLL043	Galloway-Mowat Syndrome 2	14
1786	c	GLC052	Glaucoma 3, Primary Congenital, C	14
1787		NND004	Non-Distal Monosomy 10q	14
1788		SYN112	Syndromic Microphthalmia-Anophthalmia-Coloboma	14
1789		PLZ008	Pelizaeus-Merzbacher Disease, Transitional Form	14
1790		SPP006	Suppurative Uveitis	13
1791	c	KRT041	Keratoconus 4	13
1792	c	NDP001	Ndp-Related Retinopathies	13
1793		SPS186	Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome	13
1794	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	13
1795		MLT143	Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	13
1796		ODN004	Odonto Onycho Dysplasia with Alopecia	13
1797		EVR001	Eversion of Lacrimal Punctum	12
1798		SYN120	Syndromic Oculocutaneous Albinism	12
1799		SPS184	Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome	12
1800	c	HLL012	Hallermann-Streiff-Like Syndrome	12
1801		TRR003	Terrien Marginal Degeneration	11
1802		ISL128	Isolated Microspherophakia	11
1803	c	IDP048	Idiopathic Posterior Uveitis	11
1804		NRP069	Neuro-Ophthalmological Disease	11
1805		ISL065	Isolated Congenital Alacrima	10
1806	c	RRC027	Rare Corneal Disorder	10
1807	c	MSC205	Mosaic Variegated Aneuploidy Syndrome 4	10
1808		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	9
1809		CNG458	Congenital Abducens Nerve Palsy	9
1810		MCH015	Machado-Joseph Disease and Spinocerebellar Ataxia	9
1811		FND005	Fundus Pulverulentus	9
1812	c	MLT169	Multiple Mitochondrial Dna Deletion Syndrome	8
1813	c	RRR006	Rare Retinal Disorder	8
1814		CNJ008	Conjunctival Concretion	7
1815		PRS018	Parasitic Eyelid Infestation	7
1816	c	TXC018	Toxic Maculopathy Due to Antimalarial Drugs	7
1817		RRD062	Rare Disorder with Lens Opacification	7
1818	c	JVN062	Juvenile-Onset Steinert Myotonic Dystrophy	6
1819		XLN221	X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome	6
1820		NLX005	Neu-Laxova Syndrome Due to Phosphoserine Aminotransferase Deficiency	6
1821		NRL040	Neurological Complications of Lyme Disease	6
1822		PFF003	Pfeiffer Mayer Syndrome	6
1823		ATS361	Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome	6
1824		LNS008	Lens Position Anomaly	5
1825	c	SCN083	Secondary Early-Onset Glaucoma	5
1826		ERL027	Early-Onset Non-Syndromic Cataract	5
1827		ANT015	Anatomical Narrow Angle Borderline Glaucoma	5
1828	c	PRM303	Primary Early-Onset Glaucoma	5
1829		SYN152	Syndromic Keratoconus	5
1830		CNG588	Congenital Optic Disc Excavation	5
1831		ACT252	Acute Disseminated Encephalomyelitis with Anti-Mog Antibodies	5
1832	c	SYS074	Systemic Diseases with Anterior Uveitis	5
1833	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	5
1834	c	GLC029	Glaucoma Type 1c	5
1835		ISL126	Isolated Iridoschisis	5
1836	c	GLC033	Glaucoma, Hereditary Adult Type 1a	5
1837	c	GLC035	Glaucoma, Primary Infantile Type 3a	5
1838	c	FRG006	Fragile X Syndrome Type 3	4
1839	c	FRG004	Fragile X Syndrome Type 1	4
1840	c	FRG005	Fragile X Syndrome Type 2	4
1841		PRN060	Paraneoplastic Uveitis	4
1842		PDT047	Pediatric-Onset Glaucoma	4
1843		SYN128	Syndromic Macular Dystrophy	4
1844		IDP050	Idiopathic Linear Interstitial Keratitis	4
1845		CNG597	Congenital Malformation of the Eyelid	4
1846		SYN154	Syndromic Disorder with Strabismus	4
1847	c	RRD045	Rare Disorder with Ectropion	4
1848		ANT094	Anterior Segment Developmental Anomaly Without Extraocular Manifestations	4
1849	c	SYS076	Systemic Diseases with Posterior Uveitis	4
1850	c	RRD064	Rare Disorder with Strabismus	4
1851	P	ISL148	Isolated Inherited Retinal Disorder	4
1852		RRR012	Rare Refraction Anomaly	4
1853	c	RRN016	Rare Inflammatory/autoimmune Corneal Disorder	4
1854		SYN125	Syndromic Vitreoretinopathy	4
1855		CRB216	Cerebellar Hyplasia/atrophy, Epilepsy, and Global Developmental Delay	4
1856		RRC024	Rare Ocular Motility/alignment Disorder	3
1857		RRP023	Rare Ophthalmic Disorder with Cortical Involvement	3
1858		RRC025	Rare Choroidal Disorder	3
1859		RRH031	Rare Hyperopia and Astigmatism	3
1860		RRD063	Rare Disease with Glaucoma As a Major Feature	3
1861		RNL124	Renal Disease with Cataract	3
1862		MSC198	Musculoskeletal Disease with Cataract	3
1863		CRN312	Craniofacial Anomaly with Cataract	3
1864		DNT052	Dentocutaneous Disease with Cataract	3
1865	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	34
1866	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	32
1867	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	33
1868	c	MSC101	Muscular Dystrophy-Dystroglycanopathy , Type a, 7	34
1869	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	33
1870	c	MSC102	Muscular Dystrophy-Dystroglycanopathy , Type a, 12	30
1871	c	MSC041	Muscular Dystrophy-Dystroglycanopathy , Type a, 6	29
1872	c	MSC105	Muscular Dystrophy-Dystroglycanopathy , Type a, 13	29
1873	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	29
1874	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	25
1875	c	CNG557	Congenital Muscular Dystrophy-Dystroglycanopathy Type A2	32
1876	c	CNG547	Congenital Muscular Dystrophy-Dystroglycanopathy Type A11	29
1877	c	CNG551	Congenital Muscular Dystrophy-Dystroglycanopathy A7	27
1878	c	CNG559	Congenital Muscular Dystrophy-Dystroglycanopathy Type A6	22
1879	c	CNG555	Congenital Muscular Dystrophy-Dystroglycanopathy Type A13	9
1880		NSC005	Nescav Syndrome	45
1881		NRD057	Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects	30
1882	c	CNG558	Congenital Muscular Dystrophy-Dystroglycanopathy Type A5	27
1883	c	CNG552	Congenital Muscular Dystrophy-Dystroglycanopathy Type A12	22
1884	P	WRD001	Waardenburg's Syndrome	57
1885		PBL005	Piebald Trait	59
1886		CRP032	Corpus Callosum, Agenesis of	55
1887		MYP086	Myopathy with Extrapyramidal Signs	47
1888		ATX047	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation	17
1889		NRD177	Neurodevelopmental Disorder with Eye Movement Abnormalities and Ataxia	17
1890	P	MLN008	Melanoma	74
1891		SPN209	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	69
1892	P	CHR071	Charcot-Marie-Tooth Disease	64
1893		PPL058	Papilloma of Choroid Plexus	55
1894		HMN009	Hemangioblastoma	54
1895	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	51
1896	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	51
1897		SPN060	Spondylocarpotarsal Synostosis Syndrome	50
1898	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	50
1899	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	50
1900	c	PRM226	Primary Central Nervous System Lymphoma	49
1901	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	49
1902	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	49
1903		CRD075	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	49
1904	P	CNT005	Central Nervous System Lymphoma	49
1905	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	47
1906	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	46
1907	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	46
1908		CNT019	Central Neurocytoma	44
1909	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	43
1910	c	CHR522	Charcot-Marie-Tooth Disease, Dominant Intermediate E	41
1911	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	40
1912	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	40
1913	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	37
1914	c	HRD223	Hereditary Melanoma	37
1915	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	37
1916	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	37
1917	P	KRT014	Keratosis Follicularis Spinulosa Decalvans	35
1918	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	35
1919	c	KRT073	Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	34
1920	c	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	34
1921	c	CHR699	Charcot-Marie-Tooth Disease Type 2a2a	31
1922	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	29
1923	c	CHR026	Charcot-Marie-Tooth Disease Type X	28
1924	c	CHR701	Charcot-Marie-Tooth Disease Type 1g	26
1925	c	CHR700	Charcot-Marie-Tooth Disease Type 2a2b	26
1926	c	CHR717	Charcot-Marie-Tooth Disease Dominant Intermediate a	25
1927		NRD099	Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity	25
1928	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	25
1929		TTR024	Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities	25
1930	c	CHR571	Charcot-Marie-Tooth Disease Type 5	23
1931		CHR730	Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsiv	23
1932		RCH010	Richieri-Costa/guion-Almeida Syndrome	22
1933		DRM042	Dermatoosteolysis, Kirghizian Type	22
1934	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	19
1935	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	15
1936	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	13
1937		MNT316	Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature	12
1938	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	8
1939	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	8
1940	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	7
1941	c	CHR572	Charcot-Marie-Tooth Disease Type 7	5
1942	P	PRK057	Parkinson Disease, Late-Onset	81
1943		SCH036	Scheie Syndrome	75
1944	P	MYT021	Myotonic Dystrophy 1	74
1945		WLS001	Wilson Disease	72
1946	P	SRC025	Sarcoidosis 1	71
1947	c	NMN015	Niemann-Pick Disease, Type C1	71
1948	P	TYS001	Tay-Sachs Disease	71
1949		DWN001	Down Syndrome	71
1950	c	GCH015	Gaucher Disease, Type I	70
1951	P	DYS007	Dyskeratosis Congenita	69
1952	c	MCL062	Mucolipidosis Ii Alpha/beta	69
1953		CHD001	Chediak-Higashi Syndrome	69
1954	c	HRD010	Hereditary Spastic Paraplegia	68
1955	P	MCK013	Meckel Syndrome, Type 1	67
1956		ATX029	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	67
1957	P	ALP004	Alport Syndrome	67
1958		KRT019	Keratitis, Hereditary	67
1959	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
1960	P	CCK001	Cockayne Syndrome	67
1961		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	67
1962	P	HLP001	Holoprosencephaly	66
1963	P	CNJ013	Conjunctivitis	66
1964	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	66
1965	c	MCL013	Mucolipidosis Iv	66
1966		CRZ001	Crouzon Syndrome	65
1967		SPT006	Septooptic Dysplasia	65
1968		BLS001	Blau Syndrome	64
1969		INT323	Intraocular Pressure Quantitative Trait Locus	64
1970	P	HRD008	Hereditary Hemorrhagic Telangiectasia	64
1971	P	ATS308	Autosomal Dominant Cerebellar Ataxia	64
1972	P	PRT008	Proteus Syndrome	63
1973	P	SHR029	Short Syndrome	63
1974	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	63
1975		NRR002	Norrie Disease	62
1976	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	62
1977	c	NMN016	Niemann-Pick Disease, Type B	62
1978		NRM001	Neuromyelitis Optica	62
1979		VTR013	Vitreoretinopathy, Neovascular Inflammatory	62
1980	c	DVL042	Developmental and Epileptic Encephalopathy 14	62
1981	P	NPH005	Nephronophthisis	62
1982	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	61
1983	c	DVL030	Developmental and Epileptic Encephalopathy 36	61
1984		MRS002	Marshall Syndrome	61
1985	P	STS001	Sotos Syndrome	61
1986	P	ACH003	Achromatopsia	60
1987	P	RTN209	Retinoschisis 1, X-Linked, Juvenile	60
1988		RTN017	Retinal Detachment	60
1989	P	NMN002	Niemann-Pick Disease	60
1990	P	MCR010	Microcephaly	59
1991	c	MCR241	Microphthalmia, Syndromic 3	59
1992	c	WLF013	Wolfram Syndrome 1	59
1993		CRN005	Craniofrontonasal Syndrome	59
1994	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	59
1995	c	ICH047	Ichthyosis, Congenital, Autosomal Recessive 1	59
1996		ENH001	Enhanced S-Cone Syndrome	59
1997	c	CCK008	Cockayne Syndrome a	58
1998	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	58
1999	c	OST080	Osteogenesis Imperfecta, Type Ii	58
2000	P	ISL078	Isolated Ectopia Lentis	58
2001	P	KHL003	Kohlschutter-Tonz Syndrome	57
2002	P	WLF004	Wolfram Syndrome	57
2003		BRN004	Brain Edema	57
2004	P	OPT009	Optic Neuritis	57
2005	c	FML116	Familial Cold Autoinflammatory Syndrome 1	57
2006	c	DVL033	Developmental and Epileptic Encephalopathy 1	57
2007	P	JNC001	Junctional Epidermolysis Bullosa	57
2008	c	MCL046	Mucolipidosis Iii Alpha/beta	57
2009		TSY002	Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations	56
2010	P	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	56
2011	c	HLP023	Holoprosencephaly 1	56
2012	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	56
2013	c	SPN291	Spinocerebellar Ataxia 7	55
2014	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	55
2015	c	MCP046	Mucopolysaccharidosis, Type Iiid	55
2016		LKC005	Leukocyte Adhesion Deficiency, Type Iii	55
2017	P	FML052	Familial Cold Autoinflammatory Syndrome	55
2018	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	55
2019	P	WLL002	Weill-Marchesani Syndrome	55
2020		CCT002	Cicatricial Pemphigoid	55
2021	P	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	54
2022		NVS001	Neovascular Glaucoma	54
2023	c	MCR240	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	54
2024	c	DVL038	Developmental and Epileptic Encephalopathy 7	54
2025	P	NRC002	Narcolepsy	54
2026	P	SPN429	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2	54
2027	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	54
2028		GLL028	Gillespie Syndrome	54
2029	c	EPD115	Epidermolysis Bullosa, Junctional 1b, Severe	54
2030	c	OST121	Osteogenesis Imperfecta, Type Iv	54
2031	c	NRC009	Narcolepsy 1	54
2032		NRP045	Neuropathy, Ataxia, and Retinitis Pigmentosa	53
2033	c	USH038	Usher Syndrome, Type Iiia	53
2034	P	PTS002	Ptosis	53
2035	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	53
2036	P	OPN001	Open-Angle Glaucoma	53
2037	c	DVL029	Developmental and Epileptic Encephalopathy 2	53
2038	c	NMN014	Niemann-Pick Disease, Type C2	53
2039	c	PNT057	Pontocerebellar Hypoplasia, Type 1e	52
2040		OCL006	Ocular Hypertension	52
2041	c	DVL027	Developmental and Epileptic Encephalopathy 9	52
2042	c	MCL066	Macular Dystrophy, Vitelliform, 2	52
2043	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	52
2044		WLF002	Wolf-Hirschhorn Syndrome	52
2045	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	52
2046	c	HLP026	Holoprosencephaly 3	52
2047		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	52
2048	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	52
2049	P	DVL113	Developmental and Epileptic Encephalopathy	51
2050	c	EPD114	Epidermolysis Bullosa, Junctional 1a, Intermediate	51
2051	c	PRM031	Primary Autosomal Recessive Microcephaly	51
2052	c	MCR263	Microphthalmia, Syndromic 1	51
2053	c	HRD026	Hereditary Ataxia	51
2054		KRT006	Keratoconjunctivitis	51
2055	P	NLX004	Neu-Laxova Syndrome 1	51
2056	c	PRG059	Progressive Cone Dystrophy	51
2057	P	CRN025	Corneal Dystrophy	51
2058	P	MTH008	Methylmalonic Acidemia	51
2059	P	CLR019	Color Blindness	51
2060	c	HRD173	Hereditary Late-Onset Parkinson Disease	51
2061		BRD025	Birdshot Chorioretinopathy	51
2062	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	51
2063	c	PRK085	Parkinson Disease 1, Autosomal Dominant	51
2064	c	CNG513	Congenital Ptosis	51
2065	c	MGR032	Migraine, Familial Hemiplegic, 1	51
2066	c	FML253	Familial Cold Autoinflammatory Syndrome 3	51
2067	P	PNV001	Panuveitis	51
2068		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	50
2069	c	HLP025	Holoprosencephaly 9	50
2070	c	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	50
2071	c	USH040	Usher Syndrome, Type Id	50
2072		NRN005	Neuronal Ceroid-Lipofuscinoses	50
2073	c	INT483	Intellectual Developmental Disorder, Autosomal Dominant 1	50
2074	c	ATS307	Autosomal Recessive Cerebellar Ataxia	50
2075	c	DVL041	Developmental and Epileptic Encephalopathy 13	50
2076	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	50
2077		BNB002	Bainbridge-Ropers Syndrome	50
2078	c	SRC023	Sarcoidosis 2	50
2079		ANK017	Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate	50
2080	c	HRD227	Hereditary Spastic Paraplegia 35	50
2081	P	KRT007	Keratoconus	50
2082	P	MCL001	Mucolipidosis	50
2083	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	50
2084	c	HNT004	Huntington Disease-Like 2	49
2085	c	MCL016	Mucolipidosis Iii Gamma	49
2086		IRD001	Iridocyclitis	49
2087	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	49
2088	P	SPS133	Spastic Paraplegia 2, X-Linked	49
2089	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	49
2090	c	CHR095	Chronic Progressive External Ophthalmoplegia	49
2091	c	JVN041	Juvenile Nephronophthisis	49
2092	c	HYP575	Hypotrichosis 7	49
2093		KRT001	Keratoconjunctivitis Sicca	49
2094	c	MGR030	Migraine, Familial Hemiplegic, 2	49
2095	c	NPH019	Nephronophthisis 1	49
2096		MGL003	Megalocornea	49
2097	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	49
2098		CRN049	Craniolenticulosutural Dysplasia	48
2099	P	RTN014	Retinal Artery Occlusion	48
2100	P	SCL015	Scleritis	48
2101		CRN027	Corneal Neovascularization	48
2102		BLC001	Blue Cone Monochromacy	48
2103	c	PNT036	Pontocerebellar Hypoplasia, Type 6	48
2104	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	48
2105	c	PRK071	Parkinson Disease 14, Autosomal Recessive	48
2106	c	NPH030	Nephronophthisis 2	48
2107	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	48
2108	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	48
2109	c	MGR031	Migraine, Familial Hemiplegic, 3	48
2110		CRY008	Cryopyrin-Associated Periodic Syndrome	48
2111	c	MCK032	Meckel Syndrome, Type 3	47
2112	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	47
2113	c	MCK033	Meckel Syndrome, Type 4	47
2114	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	47
2115	c	HLP027	Holoprosencephaly 7	47
2116	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	47
2117	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	47
2118	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	47
2119	c	MCK031	Meckel Syndrome, Type 2	47
2120	c	NPH032	Nephronophthisis 4	47
2121	c	DVL035	Developmental and Epileptic Encephalopathy 4	47
2122	c	CRN241	Corneal Dystrophy, Congenital Stromal	47
2123		ALN001	Aland Island Eye Disease	47
2124		MLG142	Malignant Conjunctival Melanoma	47
2125		PRS012	Pars Planitis	47
2126	c	FML117	Familial Cold Autoinflammatory Syndrome 2	47
2127	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	47
2128	c	WRD024	Waardenburg Syndrome, Type 4c	47
2129	c	WRD031	Waardenburg Syndrome, Type 3	46
2130	c	MCK030	Meckel Syndrome, Type 7	46
2131		RTN001	Retinal Vasculitis	46
2132	P	PNT019	Pontocerebellar Hypoplasia	46
2133		AYM001	Ayme-Gripp Syndrome	46
2134	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	46
2135	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	46
2136	c	XLN229	X-Linked Chondrodysplasia Punctata 2	46
2137	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	46
2138		CLB026	Colobomatous Microphthalmia	46
2139	c	MCL060	Macular Dystrophy, Vitelliform, 3	46
2140	c	HNT010	Huntington Disease-Like 1	46
2141	c	INT520	Intellectual Developmental Disorder, Autosomal Dominant 7	46
2142	c	PNT043	Pontocerebellar Hypoplasia, Type 4	46
2143	c	MCK014	Meckel Syndrome, Type 5	46
2144	c	DVL118	Developmental and Epileptic Encephalopathy 94	46
2145	c	SPN335	Spinocerebellar Ataxia Type 1 with Axonal Neuropathy	46
2146		RTN002	Retinal Perforation	45
2147	c	USH041	Usher Syndrome, Type if	45
2148	c	HLP016	Holoprosencephaly 11	45
2149		CRN045	Corneal Dystrophy and Perceptive Deafness	45
2150	c	PRK065	Parkinson Disease 20, Early-Onset	45
2151	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	45
2152	c	MCK012	Meckel Syndrome, Type 6	45
2153	c	DVL048	Developmental and Epileptic Encephalopathy 21	45
2154	c	MCR247	Microcephaly 1, Primary, Autosomal Recessive	45
2155	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	45
2156		GLT018	Glut1 Deficiency Syndrome 1	45
2157		ANG062	Angioosteohypertrophic Syndrome	45
2158	c	DVL039	Developmental and Epileptic Encephalopathy 11	45
2159	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	45
2160	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	45
2161	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	45
2162		INF006	Infant Botulism	45
2163		DBT090	Diabetes and Deafness, Maternally Inherited	45
2164		PGM007	Pigmented Paravenous Chorioretinal Atrophy	45
2165	c	HRD220	Hereditary Spastic Paraplegia 30	45
2166	c	NPH053	Nephronophthisis 11	45
2167	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	44
2168	c	NPH075	Nephronophthisis 18	44
2169	c	PRK093	Parkinson Disease 8, Autosomal Dominant	44
2170	c	CRB170	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2	44
2171		CRN247	Corneal Dystrophy, Thiel-Behnke Type	44
2172	c	USH021	Usher Syndrome, Type Iid	44
2173	c	HLP029	Holoprosencephaly 4	44
2174	c	NPH069	Nephronophthisis 15	44
2175		SLW006	Saul-Wilson Syndrome	44
2176		RTN021	Retinal Vascular Occlusion	44
2177	P	BLP003	Blepharospasm	44
2178	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	44
2179	c	DVL056	Developmental and Epileptic Encephalopathy 30	44
2180	c	NPH071	Nephronophthisis 14	44
2181	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	44
2182	c	DVL068	Developmental and Epileptic Encephalopathy 43	44
2183		STR094	Stromme Syndrome	44
2184	c	SHR030	Short Qt Syndrome	44
2185	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	44
2186	c	WLL036	Weill-Marchesani Syndrome 1	44
2187	c	PNT032	Pontocerebellar Hypoplasia, Type 9	44
2188	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	44
2189		CRB159	Cerebral Visual Impairment	44
2190	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	43
2191	c	DVL099	Developmental and Epileptic Encephalopathy 75	43
2192	c	USH042	Usher Syndrome, Type Ig	43
2193	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	43
2194	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	43
2195	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	43
2196	c	WRB004	Warburg Micro Syndrome 3	43
2197	c	CNT028	Central Retinal Artery Occlusion	43
2198	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	43
2199	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	43
2200	c	PRK052	Parkinson Disease 17	43
2201	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	43
2202	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	43
2203	c	BRD017	Bardet-Biedl Syndrome 5	43
2204	c	NPH068	Nephronophthisis 16	43
2205	c	NLX003	Neu-Laxova Syndrome 2	43
2206	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	43
2207	c	CRD239	Ceroid Lipofuscinosis, Neuronal, 13	43
2208	c	INT548	Intellectual Developmental Disorder, Autosomal Dominant 36	43
2209	c	DVL067	Developmental and Epileptic Encephalopathy 42	43
2210	c	DVL044	Developmental and Epileptic Encephalopathy 16	43
2211		CHR211	Chromosome 18p Deletion Syndrome	43
2212	c	DVL077	Developmental and Epileptic Encephalopathy 53	42
2213	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	42
2214	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	42
2215	c	NPH031	Nephronophthisis 3	42
2216	c	BCT006	Bacterial Conjunctivitis	42
2217	c	NPH035	Nephronophthisis 9	42
2218	c	INT538	Intellectual Developmental Disorder, Autosomal Dominant 23	42
2219	c	ALP105	Alport Syndrome 2, Autosomal Recessive	42
2220	c	NPH077	Nephronophthisis 19	42
2221	c	ALP104	Alport Syndrome 3, Autosomal Dominant	42
2222	c	LBR011	Leber Congenital Amaurosis 16	42
2223	c	DVL076	Developmental and Epileptic Encephalopathy 52	42
2224		PRS025	Presbyopia	42
2225	c	DVL037	Developmental and Epileptic Encephalopathy 5	42
2226	c	MCR255	Microcephaly 9, Primary, Autosomal Recessive	42
2227	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	42
2228	c	DVL049	Developmental and Epileptic Encephalopathy 23	42
2229	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	42
2230		CRN106	Corneal Dystrophy, Gelatinous Drop-Like	42
2231	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	42
2232	c	DVL062	Developmental and Epileptic Encephalopathy 35	42
2233	c	MCR320	Microcephaly 17, Primary, Autosomal Recessive	41
2234	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	41
2235	c	ALB024	Albinism, Ocular, Type I	41
2236	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	41
2237		HMC030	Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency	41
2238	c	NRC010	Narcolepsy 2	41
2239	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	41
2240	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	41
2241	c	PRK091	Parkinson Disease 4, Autosomal Dominant	41
2242		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	41
2243	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	41
2244	c	WLF009	Wolfram Syndrome 2	41
2245	c	DVL072	Developmental and Epileptic Encephalopathy 47	41
2246	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	41
2247		ORB012	Orbital Cancer	41
2248	c	PNT039	Pontocerebellar Hypoplasia, Type 7	41
2249	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	41
2250	c	HLP028	Holoprosencephaly 5	40
2251	c	FML294	Familial Short Qt Syndrome	40
2252	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	40
2253		FLC002	Fleck Retina, Familial Benign	40
2254	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	40
2255	P	KNB001	Knobloch Syndrome	40
2256		CRN141	Corneal Dystrophy, Reis-Bucklers Type	40
2257	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	40
2258	c	DVL100	Developmental and Epileptic Encephalopathy 76	40
2259	P	CNG024	Congenital Nystagmus	40
2260	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	40
2261	c	BLP048	Blepharospasm, Benign Essential	40
2262		BLP004	Blepharophimosis	40
2263	c	DVL045	Developmental and Epileptic Encephalopathy 17	40
2264		WGN007	Wagner Vitreoretinopathy	39
2265	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	39
2266		EPD117	Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous	39
2267	c	INT539	Intellectual Developmental Disorder, Autosomal Dominant 26	39
2268	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	39
2269		DFN256	Deafness and Myopia	39
2270		TRP014	Triploidy	39
2271	c	PRM212	Primary Microcephaly	39
2272	c	DVL034	Developmental and Epileptic Encephalopathy 3	39
2273	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	39
2274	c	DVL061	Developmental and Epileptic Encephalopathy 34	39
2275	c	DVL098	Developmental and Epileptic Encephalopathy 74	39
2276	c	INT536	Intellectual Developmental Disorder, Autosomal Dominant 21	39
2277	c	PRK090	Parkinson Disease 3, Autosomal Dominant	39
2278	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	39
2279		BTH002	Bothnia Retinal Dystrophy	39
2280	c	DVL052	Developmental and Epileptic Encephalopathy 26	39
2281	c	DVL028	Developmental and Epileptic Encephalopathy 8	39
2282	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	39
2283	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	39
2284	c	INT533	Intellectual Developmental Disorder, Autosomal Dominant 13	39
2285	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	39
2286	c	DVL040	Developmental and Epileptic Encephalopathy 12	39
2287		SNL007	Senile Cataract	39
2288	c	DVL103	Developmental and Epileptic Encephalopathy 80	39
2289		PRM056	Primrose Syndrome	38
2290	c	DVL073	Developmental and Epileptic Encephalopathy 48	38
2291	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	38
2292	c	MCR250	Microcephaly 6, Primary, Autosomal Recessive	38
2293	P	ENT005	Entropion	38
2294	c	MCK034	Meckel Syndrome, Type 8	38
2295	c	MCR238	Microcephaly 7, Primary, Autosomal Recessive	38
2296	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	38
2297	c	DVL109	Developmental and Epileptic Encephalopathy 87	38
2298	c	CRN236	Corneal Dystrophy, Lattice Type I	38
2299	c	DVL060	Developmental and Epileptic Encephalopathy 50	38
2300	c	DVL053	Developmental and Epileptic Encephalopathy 27	38
2301	c	NPH033	Nephronophthisis 7	38
2302		SPN446	Spondylometaphyseal Dysplasia with Corneal Dystrophy	38
2303	c	PNT050	Pontocerebellar Hypoplasia, Type 11	38
2304		CMB018	Combined Oxidative Phosphorylation Deficiency 7	38
2305	c	DVL043	Developmental and Epileptic Encephalopathy 15	38
2306		OCL066	Oculogyric Crisis	38
2307	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	38
2308	c	ERL056	Early-Onset Parkinson's Disease	38
2309	c	ATS525	Autosomal Dominant Intellectual Developmental Disorder 8	38
2310	c	SPS238	Spastic Paraplegia 81, Autosomal Recessive	37
2311	c	INT542	Intellectual Developmental Disorder, Autosomal Dominant 29	37
2312	c	SPN430	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1	37
2313	c	HLP024	Holoprosencephaly 2	37
2314	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	37
2315	c	INT516	Intellectual Developmental Disorder, Autosomal Dominant 5	37
2316	c	INT547	Intellectual Developmental Disorder, Autosomal Dominant 35	37
2317	c	XLN227	X-Linked Chondrodysplasia Punctata 1	37
2318	P	SCL013	Scleral Disease	37
2319	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	37
2320	c	MCR329	Microcephaly, Autosomal Dominant	37
2321		DST033	Distichiasis	37
2322	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	37
2323	c	PNT033	Pontocerebellar Hypoplasia, Type 10	37
2324	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	37
2325	c	DVL050	Developmental and Epileptic Encephalopathy 24	37
2326	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	37
2327	c	DVL078	Developmental and Epileptic Encephalopathy 54	36
2328	P	SCL047	Sclerocornea	36
2329	c	EPD123	Epidermolysis Bullosa, Junctional 4, Intermediate	36
2330		HMM004	Hamamy Syndrome	36
2331	c	DVL079	Developmental and Epileptic Encephalopathy 55	36
2332	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	36
2333	c	INT513	Intellectual Developmental Disorder, Autosomal Dominant 22	36
2334	c	DVL069	Developmental and Epileptic Encephalopathy 44	36
2335	P	HRD217	Hereditary Optic Neuropathy	36
2336	c	FML270	Familial Cold Autoinflammatory Syndrome 4	36
2337		SPN331	Spondyloocular Syndrome	36
2338	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	36
2339	c	SPS239	Spastic Paraplegia 82, Autosomal Recessive	36
2340		ACT012	Acute Hemorrhagic Conjunctivitis	36
2341	c	INT453	Intellectual Developmental Disorder, Autosomal Dominant 42	36
2342	c	LBR029	Leber Congenital Amaurosis 17	36
2343	c	DVL097	Developmental and Epileptic Encephalopathy 73	36
2344	c	MCR248	Microcephaly 3, Primary, Autosomal Recessive	36
2345	c	MCR109	Microphthalmia, Isolated 4	36
2346	c	ALG016	Alagille Syndrome 2	36
2347	c	SPS237	Spastic Paraplegia 30, Autosomal Dominant	36
2348	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	36
2349	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	36
2350	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	35
2351	c	PRK070	Parkinson Disease 21	35
2352	c	INT455	Intellectual Developmental Disorder, Autosomal Dominant 56	35
2353	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	35
2354	c	NPH086	Nephronophthisis 20	35
2355		MBM001	Meibomian Cyst	35
2356	c	HRD229	Hereditary Spastic Paraplegia 56	35
2357	c	SPS092	Spastic Paraplegia 11	35
2358		PNC012	Punctate Epithelial Keratoconjunctivitis	35
2359	c	HNT011	Huntington Disease-Like 3	35
2360		MCL069	Macular Dystrophy, Retinal, 1, North Carolina Type	35
2361		PRL018	Purulent Endophthalmitis	34
2362		ICH066	Ichthyosis--Cheek--Eyebrow Syndrome	34
2363	c	PNT052	Pontocerebellar Hypoplasia, Type 12	34
2364	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	34
2365	c	DVL054	Developmental and Epileptic Encephalopathy 28	34
2366	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	34
2367		OCL034	Oculocerebrocutaneous Syndrome	34
2368	c	INF147	Infantile Nephronophthisis	34
2369	c	ATS076	Autosomal Recessive Stickler Syndrome	34
2370	c	ANT023	Anterior Scleritis	34
2371	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	34
2372	c	DVL059	Developmental and Epileptic Encephalopathy 33	34
2373	c	DVL090	Developmental and Epileptic Encephalopathy 66	34
2374		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	34
2375	c	DVL057	Developmental and Epileptic Encephalopathy 31	34
2376	c	USH031	Usher Syndrome, Type Ij	34
2377	c	PNT030	Pontocerebellar Hypoplasia, Type 8	34
2378	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	34
2379	P	SPS012	Spastic Paraplegia 3a	34
2380	c	PST008	Posterior Scleritis	34
2381	c	INT550	Intellectual Developmental Disorder, Autosomal Dominant 41	34
2382		NRT011	Neurotrophic Keratopathy	33
2383	c	HRD226	Hereditary Spastic Paraplegia 49	33
2384		CNJ001	Conjugate Gaze Palsy	33
2385	c	DVL089	Developmental and Epileptic Encephalopathy 65	33
2386	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	33
2387	c	MCL070	Macular Dystrophy, Patterned, 3	33
2388	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
2389		DGN003	Degeneration of Macula and Posterior Pole	33
2390		FML292	Familial Drusen	33
2391		CLS047	Classic Progressive Supranuclear Palsy Syndrome	33
2392	c	MCR254	Microcephaly 4, Primary, Autosomal Recessive	33
2393		CHR386	Chromosome 6pter-P24 Deletion Syndrome	33
2394	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	33
2395	c	DVL084	Developmental and Epileptic Encephalopathy 60	33
2396	c	INT514	Intellectual Developmental Disorder, Autosomal Dominant 3	32
2397	P	JVN042	Juvenile Retinoschisis	32
2398	P	LTT001	Lattice Corneal Dystrophy	32
2399	c	TRC073	Treacher Collins Syndrome 2	32
2400	c	INT551	Intellectual Developmental Disorder, Autosomal Dominant 43	32
2401	P	FXG001	Foxg1 Syndrome	32
2402	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	32
2403	c	DVL046	Developmental and Epileptic Encephalopathy 18	32
2404	c	INT557	Intellectual Developmental Disorder, Autosomal Dominant 48	32
2405	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	32
2406		MCH006	Mechanical Strabismus	31
2407	c	DVL129	Developmental and Epileptic Encephalopathy 25	31
2408		NPH018	Nephrogenic Systemic Fibrosis	31
2409		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	31
2410	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	31
2411	P	FRT001	Fourth Cranial Nerve Palsy	31
2412	c	SPS243	Spastic Paraplegia 85, Autosomal Recessive	31
2413		KRN001	Korean Hemorrhagic Fever	31
2414	c	STS008	Sotos Syndrome 1	31
2415	c	DVL119	Developmental and Epileptic Encephalopathy 6b	31
2416	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	31
2417	c	INT507	Intellectual Developmental Disorder, Autosomal Recessive 5	31
2418	P	RRT020	Rare Tumor	31
2419	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	31
2420	c	CCK004	Cockayne Syndrome Type Iii	31
2421	P	ATS522	Autosomal Dominant Intellectual Developmental Disorder	31
2422	c	PNT059	Pontocerebellar Hypoplasia, Type 16	31
2423	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	31
2424	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	31
2425	c	DVL114	Developmental and Epileptic Encephalopathy 91	31
2426	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	31
2427		STC017	Stickler Syndrome, Type I, Nonsyndromic Ocular	30
2428	c	ALB017	Albinism, Oculocutaneous, Type Vi	30
2429	c	OPT023	Optic Atrophy 2	30
2430		CHR270	Chromosome 9p Duplication	30
2431	P	CRN249	Cornea Plana	30
2432		CHR167	Chorioretinal Atrophy, Progressive Bifocal	30
2433	c	HLP021	Holoprosencephaly 6	30
2434	P	FVL008	Foveal Hypoplasia 2	30
2435	c	INT555	Intellectual Developmental Disorder, Autosomal Dominant 46	30
2436		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	30
2437	c	SPS240	Spastic Paraplegia 83, Autosomal Recessive	30
2438	c	INT549	Intellectual Developmental Disorder, Autosomal Dominant 38	30
2439	c	INT537	Intellectual Developmental Disorder, Autosomal Recessive 41	30
2440	c	PRT063	Proteus-Like Syndrome	30
2441	c	DVL063	Developmental and Epileptic Encephalopathy 37	30
2442		SNC001	Sunct Headache	30
2443	c	DVL107	Developmental and Epileptic Encephalopathy 84	30
2444	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	30
2445		OPT058	Optic Disc Anomalies with Retinal and/or Macular Dystrophy	30
2446	c	SPS244	Spastic Paraplegia 86, Autosomal Recessive	30
2447		PHC006	Phacomatosis Pigmentovascularis	30
2448	c	SHR032	Short Qt Syndrome 2	30
2449	P	HRD022	Hordeolum	30
2450	c	PNT046	Pontocerebellar Hypoplasia, Type 5	30
2451	c	INT472	Intellectual Developmental Disorder, Autosomal Recessive 39	29
2452	c	SHR033	Short Qt Syndrome 3	29
2453		PTT063	Pattern Dystrophy	29
2454		HRL006	Harel-Yoon Syndrome	29
2455	c	PNT056	Pontocerebellar Hypoplasia, Type 15	29
2456	c	INT546	Intellectual Developmental Disorder, Autosomal Dominant 33	29
2457	c	ATS526	Autosomal Dominant Intellectual Developmental Disorder 19	29
2458	c	HRD186	Hereditary Spastic Paraplegia 51	29
2459	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	29
2460	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	29
2461	c	INT556	Intellectual Developmental Disorder, Autosomal Dominant 47	29
2462	c	SPS242	Spastic Paraplegia 84, Autosomal Recessive	29
2463	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
2464	c	INT521	Intellectual Developmental Disorder, Autosomal Dominant 2	29
2465	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	29
2466		CHS002	Chiasmal Syndrome	29
2467	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	29
2468	c	FML306	Familial or Sporadic Hemiplegic Migraine	29
2469	c	INT505	Intellectual Developmental Disorder, Autosomal Recessive 2	29
2470	c	HRD188	Hereditary Spastic Paraplegia 72	29
2471	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	29
2472		IGG009	Igg4-Related Ophthalmic Disease	29
2473	c	SPS091	Spastic Paraplegia 4	29
2474		CNJ005	Conjunctival Vascular Disease	29
2475		DMD001	Demodicidosis	29
2476	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	29
2477		ACT120	Acute Zonal Occult Outer Retinopathy	28
2478		CRN128	Corneal Dystrophy, Endothelial, X-Linked	28
2479		CHR707	Chromosome 13q33-Q34 Deletion Syndrome	28
2480	c	DVL080	Developmental and Epileptic Encephalopathy 56	28
2481	c	DVL058	Developmental and Epileptic Encephalopathy 32	28
2482	c	JVN015	Juvenile Huntington Disease	28
2483		GNT004	Gnathomiasis	28
2484	c	SPS013	Spastic Paraplegia 8	28
2485		MRN002	Mooren's Ulcer	28
2486		SPS209	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	28
2487	c	CRN120	Corneal Dystrophy, Fuchs Endothelial, 3	28
2488		ACT038	Acute Retrobulbar Neuritis	28
2489	c	MCK035	Meckel Syndrome, Type 10	28
2490	c	SNR007	Senior-Loken Syndrome 7	28
2491	c	DVL071	Developmental and Epileptic Encephalopathy 46	28
2492	c	INT560	Intellectual Developmental Disorder, Autosomal Dominant 52	28
2493	c	USH045	Usher Syndrome, Type Iv	28
2494	c	NPH065	Nephronophthisis 13	28
2495	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	28
2496	c	INT460	Intellectual Developmental Disorder, Autosomal Recessive 38	28
2497	c	INT554	Intellectual Developmental Disorder, Autosomal Dominant 45	28
2498		HYP643	Hypohidrotic Ectodermal Dysplasia with Immunodeficiency	28
2499	P	NNT006	Neonatal Myasthenia Gravis	28
2500	c	ATS527	Autosomal Dominant Intellectual Developmental Disorder 31	28
2501	c	DVL112	Developmental and Epileptic Encephalopathy 89	28
2502	c	INT566	Intellectual Developmental Disorder, Autosomal Dominant 58	27
2503		BLP001	Blepharochalasis	27
2504		FNG016	Fungal Keratitis	27
2505	c	MCK020	Meckel Syndrome, Type 11	27
2506	c	PRK083	Parkinson Disease 22, Autosomal Dominant	27
2507	c	SHR031	Short Qt Syndrome 1	27
2508	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	27
2509	c	INT475	Intellectual Developmental Disorder, Autosomal Dominant 39	27
2510	P	PST016	Posterior Polar Cataract	27
2511		SPN033	Spontaneous Ocular Nystagmus	27
2512	c	INT562	Intellectual Developmental Disorder, Autosomal Dominant 54	27
2513		INT337	Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies	27
2514	c	INT563	Intellectual Developmental Disorder, Autosomal Dominant 57	27
2515	c	DVL066	Developmental and Epileptic Encephalopathy 41	27
2516	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
2517	c	DVL094	Developmental and Epileptic Encephalopathy 70	27
2518	c	DVL093	Developmental and Epileptic Encephalopathy 69	27
2519	c	DVL120	Developmental and Epileptic Encephalopathy 95	27
2520	c	DVL086	Developmental and Epileptic Encephalopathy 62	27
2521	c	DVL088	Developmental and Epileptic Encephalopathy 64	27
2522	c	KHL004	Kohlschutter-Tonz Syndrome-Like	27
2523	c	DVL074	Developmental and Epileptic Encephalopathy 49	27
2524	c	INT517	Intellectual Developmental Disorder, Autosomal Recessive 13	27
2525	c	MCK028	Meckel Syndrome 13	27
2526		LKN017	Leukoencephalopathy with Ataxia	27
2527		PLM137	Palmoplantar Keratoderma and Woolly Hair	27
2528	c	PRK098	Parkinson Disease 5, Autosomal Dominant	27
2529	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	27
2530	c	DVL047	Developmental and Epileptic Encephalopathy 19	27
2531	c	INT535	Intellectual Developmental Disorder, Autosomal Recessive 37	27
2532	c	DVL092	Developmental and Epileptic Encephalopathy 68	26
2533	c	SNR004	Senior-Loken Syndrome 4	26
2534		ACC002	Accommodative Spasm	26
2535	c	DVL091	Developmental and Epileptic Encephalopathy 67	26
2536	c	MCK026	Meckel Syndrome 12	26
2537	c	DVL083	Developmental and Epileptic Encephalopathy 59	26
2538	c	PNT055	Pontocerebellar Hypoplasia, Type 14	26
2539	c	DVL075	Developmental and Epileptic Encephalopathy 51	26
2540	c	DVL104	Developmental and Epileptic Encephalopathy 81	26
2541	c	MCR219	Microphthalmia, Isolated 8	26
2542		TKL001	Tukel Syndrome	26
2543	c	ATS523	Autosomal Recessive Intellectual Developmental Disorder	26
2544	c	FRM005	Frmd7-Related Infantile Nystagmus	26
2545	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	26
2546	c	DVL115	Developmental and Epileptic Encephalopathy 92	26
2547	c	INT393	Intellectual Developmental Disorder, Autosomal Dominant 64	26
2548	c	INT545	Intellectual Developmental Disorder, Autosomal Recessive 48	26
2549	c	INT558	Intellectual Developmental Disorder, Autosomal Recessive 61	26
2550	c	DVL127	Developmental and Epileptic Encephalopathy 98	26
2551	c	INT515	Intellectual Developmental Disorder, Autosomal Dominant 4	26
2552	c	DVL128	Developmental and Epileptic Encephalopathy 99	26
2553	c	INT561	Intellectual Developmental Disorder, Autosomal Dominant 53	26
2554		NRD096	Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures	26
2555	c	DVL070	Developmental and Epileptic Encephalopathy 45	26
2556	c	PRK099	Parkinson Disease 18, Autosomal Dominant	26
2557	c	EPD124	Epidermolysis Bullosa, Junctional 5a, Intermediate	26
2558	c	MCR382	Microcephaly 26, Primary, Autosomal Dominant	25
2559	c	DVL081	Developmental and Epileptic Encephalopathy 57	25
2560		EXT029	Extraocular Retinoblastoma	25
2561	c	SPN432	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3	25
2562	c	CRN280	Cornea Plana 2, Autosomal Recessive	25
2563		NNS133	Non-Syndromic Metopic Craniosynostosis	25
2564	c	INT544	Intellectual Developmental Disorder, Autosomal Recessive 46	25
2565	c	DVL102	Developmental and Epileptic Encephalopathy 79	25
2566	c	DVL032	Developmental and Epileptic Encephalopathy 90	25
2567		MCD002	Mcdonough Syndrome	25
2568	c	DVL131	Developmental and Epileptic Encephalopathy 100	25
2569	c	SNR006	Senior-Loken Syndrome 6	25
2570	c	DVL105