Eye Diseases Category (3483 diseases)

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

#	Family	MCID	Name	MIFTS
1		NNR004	Nonarteritic Anterior Ischemic Optic Neuropathy	57
2		LBR031	Leber Optic Atrophy and Dystonia	39
3	c	SKN068	Skin/hair/eye Pigmentation, Variation in, 3	25
4	c	MCL042	Macular Degeneration, Age-Related, 1	84
5	c	SKN065	Skin/hair/eye Pigmentation, Variation in, 1	27
6	P	MCL058	Macular Degeneration, Early-Onset	23
7		SCH038	Schopf-Schulz-Passarge Syndrome	51
8		BHR001	Behr Syndrome	51
9		OPT001	Optic Disk Drusen	34
10		OCL011	Ocular Motility Disease	45
11	c	SKN071	Skin/hair/eye Pigmentation, Variation in, 9	15
12	P	EYD002	Eye Disease	57
13		OPT062	Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures	33
14		HYP742	Hyperpigmentation of Eyelids	13
15		DYN002	Doyne Honeycomb Retinal Dystrophy	44
16		VSL013	Visual Impairment and Progressive Phthisis Bulbi	36
17		OPT005	Optic Nerve Astrocytoma	23
18		EYL006	Eyelid Benign Neoplasm	22
19		OPT079	Optic Atrophy 13 with Retinal and Foveal Abnormalities	20
20		DRY001	Dry Eye Syndrome	49
21		TRC077	Trichomegaly	39
22		HYP859	Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities	27
23		SHR097	Short Tarsus with Absence of Lower Eyelashes	25
24		BRK005	Berk-Tabatznik Syndrome	8
25		VSL002	Visual Epilepsy	39
26		VSL003	Visual Agnosia	33
27		OPT002	Optic Nerve Sheath Meningioma	30
28		EYB005	Eyebrows, Duplication of, with Stretchable Skin and Syndactyly	14
29		CHL024	Childhood Optic Nerve Glioma	11
30		GLC005	Glaucomatous Atrophy of Optic Disc	7
31		VNS001	Venous Tributary Occlusion of Retina	7
32		CHL023	Childhood Optic Tract Astrocytoma	6
33		RMS001	Rem Sleep Behavior Disorder	47
34		SCT002	Scotoma	42
35		OPT032	Optic Pathway Glioma	34
36		MTC145	Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy	32
37	P	HRD022	Hordeolum	28
38	c	INT047	Internal Hordeolum	24
39		EXF001	Exfoliation Syndrome	55
40		AMB002	Amblyopia	49
41		PPL021	Papilledema	49
42		LSS001	Loiasis	45
43		GLC098	Glaucoma-Related Pigment Dispersion Syndrome	44
44		WGN003	Wagner Syndrome	31
45		ATM076	Autoimmune Retinopathy	27
46		ACT201	Acute Posterior Multifocal Placoid Pigment Epitheliopathy	21
47		ABS020	Absent Eyebrows and Eyelashes with Mental Retardation	19
48		RTN123	Retinochoroidal Coloboma	19
49		ALL005	Allergic Contact Dermatitis of Eyelid	7
50	c	LBR004	Leber Congenital Amaurosis 1	53
51		OCL006	Ocular Hypertension	53
52	c	LBR012	Leber Congenital Amaurosis 2	52
53		EST005	Esotropia	43
54		ACT011	Acute Contagious Conjunctivitis	41
55	P	JVN042	Juvenile Retinoschisis	39
56		KLV001	Kluver-Bucy Syndrome	34
57		XLN012	X-Linked Congenital Stationary Night Blindness	28
58		EYL002	Eyelid Carcinoma	27
59		SPN033	Spontaneous Ocular Nystagmus	25
60		CMB047	Combined Oxidative Phosphorylation Deficiency 18	24
61		ICH066	Ichthyosis--Cheek--Eyebrow Syndrome	24
62	c	SKN064	Skin/hair/eye Pigmentation, Variation in, 6	14
63	c	SKN069	Skin/hair/eye Pigmentation, Variation in, 7	14
64	c	SKN072	Skin/hair/eye Pigmentation, Variation in, 10	13
65	c	RTN201	Retinoschisis, Autosomal Dominant	12
66		SJG009	Sjogren-Larsson-Like Ichthyosis Without Cns or Eye Involvement	11
67		OCL031	Oculo-Cerebral Dysplasia	8
68		ANT020	Anterior Optic Tract Meningioma	8
69		PRM009	Primary Eye Hypotony	5
70		CRT010	Crater-Like Holes of Optic Disc	5
71		MCL006	Macular Retinal Edema	56
72		KRT001	Keratoconjunctivitis Sicca	49
73	P	CND005	Cone Dystrophy	47
74		ALB002	Albinism	46
75	c	RNG023	Ring Chromosome 7	43
76		RFR003	Refractive Error	41
77		OCL052	Ocular Dominance	40
78	P	RNG032	Ring Chromosome	39
79		3MC001	3mc Syndrome 2	37
80		ABS022	Absolute Glaucoma	34
81		ART110	Arteritic Anterior Ischemic Optic Neuropathy	34
82	c	RNG004	Ring Chromosome 1	32
83	c	RNG017	Ring Chromosome 21	32
84	c	RNG029	Ring Chromosome 14 Syndrome	31
85	c	RNG020	Ring Chromosome 4	31
86	c	CND012	Cone Dystrophy 4	31
87	c	RNG008	Ring Chromosome 13	31
88	c	RNG018	Ring Chromosome 22	30
89	c	RNG022	Ring Chromosome 6	28
90	c	RNG024	Ring Chromosome 8	28
91	c	RNG007	Ring Chromosome 12	27
92	c	RNG010	Ring Chromosome 15	27
93	c	RNG016	Ring Chromosome 20	26
94	c	RNG005	Ring Chromosome 10	26
95	c	RNG013	Ring Chromosome 18	25
96		ENC048	Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy	24
97	c	RNG015	Ring Chromosome 2	22
98		RTN229	Retinitis Pigmentosa 87 with Choroidal Involvement	20
99		NTR002	Nutritional Optic Neuropathy	20
100	c	RNG021	Ring Chromosome 5	20
101	c	RNG012	Ring Chromosome 17	20
102	c	RNG025	Ring Chromosome 9	19
103	c	RNG006	Ring Chromosome 11	19
104	c	RNG019	Ring Chromosome 3	19
105		EYC003	Eye Accommodation Disease	18
106	c	RNG014	Ring Chromosome 19	17
107	c	RNG011	Ring Chromosome 16	17
108		ULR001	Ulerythema Ophryogenesis	16
109	c	RNG031	Ring Chromosome Y Syndrome	16
110		INT303	Intracranial Hypertension, Idiopathic	56
111		WDM004	Wiedemann-Steiner Syndrome	49
112	c	LBR018	Leber Congenital Amaurosis 8	47
113	P	BLP003	Blepharospasm	45
114	c	LBR019	Leber Congenital Amaurosis 9	45
115	c	LBR016	Leber Congenital Amaurosis 6	43
116	P	SDR002	Siderosis	42
117	c	LBR008	Leber Congenital Amaurosis 13	41
118	P	CNR031	Cone-Rod Dystrophy, X-Linked, 1	37
119	c	BLP048	Blepharospasm, Benign Essential	36
120	c	GLC114	Glaucoma, Primary Closed-Angle	36
121	c	CNR038	Cone-Rod Dystrophy, X-Linked, 3	35
122	P	ACT028	Acute Closed-Angle Glaucoma	32
123		FML286	Familial Isolated Trichomegaly	31
124	c	MCL052	Macular Degeneration, Age-Related, 13	30
125	c	CNR039	Cone-Rod Dystrophy, X-Linked, 2	28
126		MCL057	Macular Dystrophy with Central Cone Involvement	28
127		AMT001	Ametropic Amblyopia	26
128		KRT074	Keratoendotheliitis Fugax Hereditaria	25
129		OCL016	Ocular Albinism, X-Linked	24
130		INT012	Interval Angle-Closure Glaucoma	23
131		RB1001	Rab18 Deficiency	22
132		HTR005	Heterochromia Iridis	22
133		JVN026	Jeavons Syndrome	21
134		NGH031	Night Blindness, Congenital Stationary, Type1i	20
135		19P004	19p13.13 Deletion Syndrome	19
136	c	LBR034	Leber Congenital Amaurosis 19	18
137		MYP135	Myopia 26, X-Linked, Female-Limited	17
138		GRP007	Grouped Pigmentation of the Retina	17
139		ANP019	Anophthalmos with Limb Anomalies	16
140		PTR030	Pterygium of Conjunctiva and Cornea	16
141		NRD120	Neurodegeneration with Ataxia and Late-Onset Optic Atrophy	14
142		ECT009	Ectopia Pupillae	13
143		FML160	Familial Spastic Paralysis	8
144		LXT001	Luxation of Globe	7
145	c	SDR001	Siderosis of Eye	7
146		HYP046	Hypopigmentation of Eyelid	7
147	P	ENC018	Encephalopathy	62
148		MNL001	Monilethrix	49
149		KHN001	Kuhnt-Junius Degeneration	48
150	c	LBR005	Leber Congenital Amaurosis 10	45
151		GLC084	Glaucoma, Normal Tension	45
152	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	43
153	c	LBR015	Leber Congenital Amaurosis 5	42
154		CRT012	Cortical Blindness	42
155	P	CLS010	Cluster Headache	42
156		BSL037	Basal Laminar Drusen	41
157	c	HYP581	Hypotrichosis 6	40
158	P	NYS013	Nystagmus 6, Congenital, X-Linked	39
159	c	MCL039	Macular Degeneration, Age-Related, 8	39
160		CRB016	Carbuncle	39
161		OCL025	Ocular Toxoplasmosis	39
162	c	LBR017	Leber Congenital Amaurosis 7	38
163		OPT010	Optic Papillitis	38
164		ORB006	Orbital Cellulitis	38
165		DNC004	Diencephalic Syndrome	36
166	c	MCL043	Macular Degeneration, Age-Related, 2	35
167		HYD007	Hydrophthalmos	35
168		CNR033	Cone-Rod Synaptic Disorder, Congenital Nonprogressive	35
169		PRR004	Preretinal Fibrosis	35
170		DSN002	Desanto-Shinawi Syndrome	35
171	c	LBR006	Leber Congenital Amaurosis 11	35
172		OCL066	Oculogyric Crisis	35
173	c	CHR054	Chronic Closed-Angle Glaucoma	33
174		SML010	Simultanagnosia	32
175		IRS003	Iris Disease	31
176		MLT035	Multifocal Choroiditis	31
177		LGN005	Ligneous Conjunctivitis	31
178		ACN019	Acanthamoeba Keratitis	31
179		STR019	Steroid-Induced Glaucoma	30
180		SHP001	Shipyard Eye	30
181	P	MCR352	Microphthalmia, Isolated, with Coloboma 6	30
182	c	NYS017	Nystagmus 1, Congenital, X-Linked	29
183		RTN005	Retinal Lattice Degeneration	28
184		MCL079	Macular Telangiectasia Type 2	28
185		STR046	Stargardt Macular Degeneration	27
186		EYD001	Eye Degenerative Disease	27
187		PHC002	Phacogenic Glaucoma	26
188		TRM002	Traumatic Glaucoma	26
189		CBB001	Cobblestone Retinal Degeneration	25
190	c	MCR214	Microphthalmia, Isolated, with Coloboma 9	24
191		PSD005	Pseudoretinitis Pigmentosa	24
192		OCL004	Ocular Hyperemia	24
193	c	MCR349	Microphthalmia, Isolated, with Coloboma 3	24
194		TCT002	Tactile Agnosia	23
195		AQS001	Aqueous Misdirection	22
196	c	MCR350	Microphthalmia, Isolated, with Coloboma 5	21
197		INT334	Intellectual Developmental Disorder and Retinitis Pigmentosa	20
198	c	HYP832	Hypotrichosis 14	20
199		AST004	Astereognosia	19
200	c	MCR210	Microphthalmia, Isolated, with Coloboma 7	19
201	c	MCR271	Microphthalmia, Isolated, with Coloboma 10	19
202	P	TLN014	Tl Antigen	19
203		PRT024	Partial Optic Atrophy	18
204	c	SKN066	Skin/hair/eye Pigmentation, Variation in, 5	18
205	c	OPT071	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive	18
206		BLN017	Balint Syndrome	17
207		FCL068	Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome	16
208		LTR005	Lateral Displacement of Eye	16
209		BLN008	Blind Hypotensive Eye	15
210		SPT020	Spatial Visualization, Aptitude for	15
211	c	CLS053	Cluster Headache, Familial	15
212		APR010	Apraxia of Eyelid Opening	15
213	c	MCR335	Microphthalmia, Isolated, with Coloboma 4	14
214		CHL133	Cholestasis with Gallstone, Ataxia, and Visual Disturbance	13
215		BLS004	Blessig's Cysts	13
216	c	MCR338	Microphthalmia, Isolated, with Coloboma 1	13
217		NGL005	Ngly1-Congenital Disorder of Deglycosylation	13
218		MTP036	Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy	13
219	c	HR4001	Hr44 Antigen	12
220	c	MCR346	Microphthalmia, Isolated, with Coloboma 2	12
221		OPT072	Opticocochleodentate Degeneration	11
222	c	ADM003	Adamtsl4-Related Eye Disorders	11
223		TNT001	Tented Eyebrows	11
224		MYL068	Myelinated Optic Nerve Fibers	11
225		OPT073	Optic Atrophy--Spastic Paraplegia Syndrome	11
226		SHR049	Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome	11
227		NRP050	Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance	10
228		SPS217	Spastic Paraplegia, Optic Atrophy, and Dementia	10
229		ALZ038	Alezzandrini Syndrome	10
230		HYP023	Hypersecretion Glaucoma	9
231		FRD011	Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness	9
232		OPT067	Optic Atrophy with Demyelinating Disease of Cns	9
233		DVL026	Developmental Defect of the Eye	9
234		LTT009	Lattice Degeneration of Retina Leading to Retinal Detachment	8
235		HLR003	Hole Retinal Cyst	8
236		VSL001	Visual Verbal Agnosia	8
237		ALG004	Al Gazali Khidr Prem Chandran Syndrome	8
238	c	XHN001	Xh Antigen	7
239		PGN001	Pagon Stephan Syndrome	7
240		CNT006	Central Pterygium	7
241		CYS012	Cystoid Macular Retinal Degeneration	7
242		TRS032	Tristichiasis	7
243	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	7
244		SNL002	Senile Reticular Retinal Degeneration	6
245		EYB006	Eyebrow, Whorl in	5
246		CLB023	Coloboma of Inferior Eyelid	5
247		CLB024	Coloboma of Superior Eyelid	5
248		INT285	Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome	5
249		SPS224	Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal	5
250		ECZ001	Eczematous Dermatitis of Eyelid	5
251		PRP004	Peripheral Scars of Retina	5
252		SLN003	Silengo Lerone Pelizza Syndrome	5
253		HYP045	Hypertrichosis of Eyelid	4
254		HYP044	Hypotrichosis of Eyelid	4
255		DSC002	Discoid Lupus Erythematosus of Eyelid	4
256		ECC013	Eccrine Syringofibroadenomatosis with Eyelid Abnormalities	4
257		RTN076	Retinopathy, Arteriosclerotic	4
258		DMR001	De Morsier's Syndrome Information	4
259		RRG068	Rare Genetic Optic Nerve Disorder	4
260	P	GNT060	Genetic Eye Tumor	3
261	c	RRG044	Rare Genetic Tumor	3
262	P	RRG058	Rare Genetic Disorder of the Anterior Segment of the Eye	3
263		RRG071	Rare Genetic Disorder of the Visual Organs	3
264		CLB012	Coloboma of Optic Papilla	3
265		GNT069	Genetic Developmental Defect of the Eye	3
266		GNT168	Genetic Congenital Malformation of the Eye with Glaucoma As a Major Feature	3
267		STR110	Structural Developmental Eye Defect of Genetic Origin	3
268		CNG589	Congenital Optic Disc Excavation of Genetic Origin	3
269		CNG068	Congenital Cystic Eye Multiple Ocular and Intracranial Anomalies	2
270		VSL006	Visual Pathway and Hypothalamic Glioma, Childhood	2
271		LGH007	Leigh Syndrome	70
272	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	69
273	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	68
274		BLS001	Blau Syndrome	68
275	c	GCH015	Gaucher Disease, Type I	67
276	P	MYS003	Myasthenia Gravis	67
277	P	CRN015	Cornelia De Lange Syndrome	67
278	c	MNN047	Mannosidosis, Alpha B, Lysosomal	67
279		NVS017	Nevus, Epidermal	66
280	P	BRD002	Bardet-Biedl Syndrome	66
281	P	KBK002	Kabuki Syndrome 1	66
282	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	66
283	c	HRD010	Hereditary Spastic Paraplegia	65
284	c	FML346	Familial Adenomatous Polyposis 1	65
285	P	ZLL001	Zellweger Syndrome	65
286		CRB011	Cerebrotendinous Xanthomatosis	64
287		INC021	Incontinentia Pigmenti	63
288		RBR002	Roberts-Sc Phocomelia Syndrome	63
289	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	63
290		MLT163	Multiple Pterygium Syndrome, Escobar Variant	62
291		KRN002	Kearns-Sayre Syndrome	62
292	c	TYR012	Tyrosinemia, Type I	61
293	c	MCP004	Mucopolysaccharidosis Iv	61
294	c	CRN139	Cornelia De Lange Syndrome 1	61
295	P	ADM011	Adams-Oliver Syndrome	60
296	P	NMN002	Niemann-Pick Disease	60
297		NRR002	Norrie Disease	59
298	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	59
299		LNG073	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	58
300	P	SCK004	Seckel Syndrome	58
301	P	CRN323	Cranioectodermal Dysplasia	58
302		VSC063	Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations	57
303	c	NMN016	Niemann-Pick Disease, Type B	56
304	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	55
305		VGT001	Vogt-Koyanagi-Harada Disease	55
306	P	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	55
307		HMF006	Hemifacial Microsomia	55
308	c	INT064	Intermediate Uveitis	54
309	c	CRD185	Ceroid Lipofuscinosis, Neuronal, 6	54
310	P	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	54
311	P	GRS003	Griscelli Syndrome	54
312	c	PST005	Posterior Uveitis	54
313	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	52
314		CHR101	Char Syndrome	52
315		MTC206	Mitochondrial Complex Iv Deficiency, Nuclear Type 5	52
316		LYM029	Lymphedema-Distichiasis Syndrome	52
317	P	SLV027	Silver-Russell Syndrome 1	52
318	c	BRD012	Bardet-Biedl Syndrome 11	52
319	P	NGH001	Night Blindness	52
320		PTH003	Pathologic Nystagmus	52
321	P	NRD007	Neurodegeneration with Brain Iron Accumulation	51
322		NNT017	Neonatal Adrenoleukodystrophy	51
323	c	3MT015	3-Methylglutaconic Aciduria, Type I	51
324	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	51
325	P	JVN008	Juvenile Glaucoma	51
326	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	50
327	P	SPS133	Spastic Paraplegia 2, X-Linked	50
328		BLP005	Blepharitis	50
329		PST049	Postaxial Acrofacial Dysostosis	50
330		RVS001	Revesz Syndrome	49
331	c	GNR043	Generalized Epilepsy with Febrile Seizures Plus, Type 7	49
332	c	SCK009	Seckel Syndrome 1	49
333	P	TYR004	Tyrosinemia	49
334	c	GNR039	Generalized Epilepsy with Febrile Seizures Plus, Type 2	49
335	c	CRN108	Cranioectodermal Dysplasia 1	48
336		OPS006	Opsoclonus-Myoclonus Syndrome	48
337		CHR008	Choroiditis	48
338	c	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	47
339		VRN004	Vernal Keratoconjunctivitis	47
340	c	MCK031	Meckel Syndrome, Type 2	47
341		NRP045	Neuropathy, Ataxia, and Retinitis Pigmentosa	47
342		CRN027	Corneal Neovascularization	47
343	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	45
344	c	RTN047	Retinitis Pigmentosa 18	45
345		CNJ012	Conjunctival Disease	45
346	c	3MT014	3-Methylglutaconic Aciduria, Type V	45
347		SVN002	Sveinsson Chorioretinal Atrophy	45
348	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	45
349		IRT001	Iritis	45
350	c	ATM099	Autoimmune Uveitis	44
351	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	44
352	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	44
353		MCL003	Macular Holes	44
354	c	RTN141	Retinitis Pigmentosa 39	44
355	P	DCR003	Dacryoadenitis	44
356	c	MCR137	Microphthalmia, Isolated 2	44
357		RPP001	Rapp-Hodgkin Syndrome	44
358	c	ORT011	Orthostatic Hypotension 1	43
359	P	FRN036	Frontonasal Dysplasia 1	43
360	c	RTN054	Retinitis Pigmentosa 25	43
361		BRT046	Baraitser-Winter Cerebrofrontofacial Syndrome	43
362	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	43
363		FNT005	Fontaine Progeroid Syndrome	43
364	c	CNG124	Congenital Rubella	43
365	c	RTN043	Retinitis Pigmentosa 13	43
366	c	LBR007	Leber Congenital Amaurosis 12	43
367	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	43
368	c	JBR024	Joubert Syndrome 14	43
369	c	WRB004	Warburg Micro Syndrome 3	42
370	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	42
371		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	42
372	c	BRD044	Bardet-Biedl Syndrome 17	42
373		EXT022	Exotropia	42
374	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	42
375	c	SPN100	Spinocerebellar Ataxia 27	41
376		VTR003	Vitreous Detachment	41
377	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	41
378		ATP013	Atopic Keratoconjunctivitis	41
379	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	41
380	c	WRB003	Warburg Micro Syndrome 2	41
381	c	CNG198	Congenital Disorder of Glycosylation, Type Il	41
382	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	41
383	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	41
384	P	LCR008	Lacrimal Apparatus Disease	41
385		UVL010	Uveal Disease	40
386	c	RTN114	Retinitis Pigmentosa 58	40
387	c	SCK015	Seckel Syndrome 2	40
388	c	CNR024	Cone-Rod Dystrophy 13	40
389		MCH006	Mechanical Strabismus	40
390		FNG016	Fungal Keratitis	40
391		ANG004	Angioid Streaks	39
392	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	39
393	c	SCK011	Seckel Syndrome 5	39
394		OCL015	Oculomotor Apraxia	39
395	c	RTN055	Retinitis Pigmentosa 26	39
396	P	SCL013	Scleral Disease	39
397	c	SCK010	Seckel Syndrome 4	39
398	c	GRN064	Granulomatous Disease, Chronic, Autosomal Recessive, 3	39
399	c	NNN020	Noonan Syndrome 7	39
400	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	39
401	c	HYP559	Hypotrichosis 8	39
402	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	39
403	c	RBN008	Rubinstein-Taybi Syndrome 2	38
404	c	RTN129	Retinitis Pigmentosa 49	38
405	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	38
406	c	MCL044	Macular Degeneration, Age-Related, 9	38
407		RTN002	Retinal Perforation	37
408	c	CRN109	Cranioectodermal Dysplasia 2	37
409	c	PLZ002	Pelizaeus-Merzbacher-Like Disease	37
410	c	BRW008	Brown-Vialetto-Van Laere Syndrome 2	37
411	c	MCL078	Macular Degeneration, Age-Related, 14	37
412	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	37
413		BTH002	Bothnia Retinal Dystrophy	37
414	c	CNG188	Congenital Disorder of Glycosylation, Type if	37
415	c	SCK029	Seckel Syndrome 7	37
416	c	NGH008	Night Blindness, Congenital Stationary, Autosomal Dominant 3	37
417	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	37
418	c	ACT067	Acute Conjunctivitis	36
419	c	ALB015	Albinism, Oculocutaneous, Type V	36
420		END072	Endotheliitis	36
421	c	CTR122	Cataract 5, Multiple Types	36
422		PTT063	Pattern Dystrophy	36
423	c	RTN146	Retinitis Pigmentosa 62	36
424		AKN002	Akinetic Mutism	36
425	P	IDP049	Idiopathic Anterior Uveitis	36
426		DBT007	Diabetic Cataract	36
427	P	CRN233	Corneal Dystrophy, Fuchs Endothelial, 1	36
428	c	RTN157	Retinitis Pigmentosa 37	35
429		EPC005	Epicanthus	35
430	c	RTN064	Retinitis Pigmentosa 35	35
431	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	35
432	c	LBR029	Leber Congenital Amaurosis 17	35
433	c	STS007	Sotos Syndrome 2	35
434	c	CNR006	Cone-Rod Dystrophy 5	35
435		CTR014	Cataract Microcornea Syndrome	35
436		BLP006	Blepharoconjunctivitis	35
437		OPH002	Ophthalmia Neonatorum	35
438	c	CNR021	Cone-Rod Dystrophy 10	35
439	c	SPN102	Spinocerebellar Ataxia 30	35
440	c	MNS014	Monosomy 22	34
441	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	34
442	c	NNN013	Noonan Syndrome 6	34
443	c	HYP576	Hypotrichosis 4	34
444	c	PRX050	Peroxisome Biogenesis Disorder 9b	34
445	P	ENT005	Entropion	34
446		HRD016	Hereditary Retinal Dystrophy	33
447	c	FRS015	Fraser Syndrome 3	33
448	c	NYS005	Nystagmus 4, Congenital, Autosomal Dominant	33
449	c	RTN131	Retinitis Pigmentosa 27	33
450	P	DSB002	Desbuquois Dysplasia	33
451	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	33
452	c	HYP564	Hypocalcemia, Autosomal Dominant 2	33
453		PSD008	Pseudopapilledema	33
454		OCL033	Oculocerebral Syndrome with Hypopigmentation	33
455		AMR003	Amaurosis Fugax	32
456	c	INF122	Infantile Krabbe Disease	32
457		INT042	Internuclear Ophthalmoplegia	32
458	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	32
459		ANS002	Aniseikonia	32
460	c	SCK033	Seckel Syndrome 8	32
461		CRN274	Corneal Dystrophy, Posterior Amorphous	32
462	c	GNR034	Generalized Epilepsy with Febrile Seizures Plus, Type 9	32
463	c	RTN061	Retinitis Pigmentosa 32	32
464	c	PRX043	Peroxisome Biogenesis Disorder 6b	31
465	c	INF019	Infectious Anterior Uveitis	31
466	c	HRD186	Hereditary Spastic Paraplegia 51	31
467		ERL027	Early-Onset Non-Syndromic Cataract	31
468	c	SCK032	Seckel Syndrome 6	31
469	c	RTN067	Retinitis Pigmentosa 41	31
470		BTT011	Butterfly-Shaped Pigment Dystrophy	30
471	c	SHR033	Short Qt Syndrome 3	30
472	c	ANT023	Anterior Scleritis	30
473		LGP001	Lagophthalmos	30
474	c	MCL059	Macular Dystrophy, Patterned, 1	30
475	c	HYP515	Hypotrichosis 3	30
476	c	RTN147	Retinitis Pigmentosa 48	30
477	c	GLL040	Galloway-Mowat Syndrome 3	29
478	c	RTN148	Retinitis Pigmentosa 63	29
479		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	29
480	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	29
481	c	PST008	Posterior Scleritis	28
482	c	ACT047	Acute Endophthalmitis	28
483	P	ERL043	Early-Onset Nuclear Cataract	28
484		SNC001	Sunct Headache	28
485	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	28
486	c	MSC041	Muscular Dystrophy-Dystroglycanopathy , Type a, 6	28
487		THL003	Thelaziasis	28
488	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	28
489		INT313	Intellectual Developmental Disorder with Cardiac Arrhythmia	28
490	c	HRD188	Hereditary Spastic Paraplegia 72	28
491	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	27
492	c	SPN421	Spinocerebellar Ataxia 47	27
493	c	DVL091	Developmental and Epileptic Encephalopathy 67	27
494	P	PPL023	Pupil Disease	27
495		KRT057	Keratosis Follicularis Spinulosa Decalvans, X-Linked	27
496	c	DVL089	Developmental and Epileptic Encephalopathy 65	27
497		ICH011	Ichthyosis Follicularis Atrichia Photophobia Syndrome	27
498	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	26
499	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	26
500	c	MCK035	Meckel Syndrome, Type 10	26
501		BLP001	Blepharochalasis	26
502		HMC012	Hemicrania Continua	26
503	c	XLN065	X-Linked Infantile Nystagmus	26
504		BLP041	Blepharochalasis and Double Lip	26
505		CRN273	Corneal Dystrophy, Subepithelial Mucinous	26
506		SVR058	Severe Early-Childhood-Onset Retinal Dystrophy	26
507	c	JBR021	Joubert Syndrome 18	26
508	c	CNR027	Cone-Rod Dystrophy 17	26
509	c	DVL093	Developmental and Epileptic Encephalopathy 69	25
510	c	DVL097	Developmental and Epileptic Encephalopathy 73	25
511	c	SPS027	Spastic Paraplegia 17	25
512		CLB009	Coloboma of Iris	25
513		EXF002	Exfoliative Ichthyosis	25
514	c	JBR040	Joubert Syndrome 30	25
515		HRD037	Hardikar Syndrome	25
516		ACT038	Acute Retrobulbar Neuritis	25
517		ACC002	Accommodative Spasm	25
518	c	FBL003	Fbln5-Related Cutis Laxa	25
519		PNC012	Punctate Epithelial Keratoconjunctivitis	25
520	c	CNR029	Cone-Rod Dystrophy 19	24
521	c	SCK037	Seckel Syndrome 9	24
522	c	JBR043	Joubert Syndrome 32	24
523	c	GNR046	Generalized Epilepsy with Febrile Seizures Plus, Type 10	24
524		CMB100	Combined Oxidative Phosphorylation Deficiency 44	24
525	c	ATS438	Autosomal Recessive Spastic Ataxia	24
526	P	PRM227	Primary Orthostatic Hypotension	24
527		HRP011	Herpes Zoster Ophthalmicus	24
528	c	SPS214	Spastic Ataxia 4	24
529	c	MCL030	Macular Degeneration, Age-Related, 10	24
530		KRT020	Keratoconus Posticus Circumscriptus	24
531	c	SCK038	Seckel Syndrome 10	24
532		SCL008	Scleromalacia Perforans	24
533	c	MTC074	Metachromatic Leukodystrophy, Adult Form	23
534	c	CRN147	Corneal Dystrophy, Fuchs Endothelial, 6	23
535		DYS096	Dyskeratosis, Hereditary Benign Intraepithelial	23
536		SCL011	Sclerosing Keratitis	23
537	c	DVL065	Developmental and Epileptic Encephalopathy 40	23
538		ISL145	Isolated Macular Dystrophy	23
539		MSC089	Mosaic Monosomy X	23
540	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	23
541		CLB011	Coloboma of Macula with Type B Brachydactyly	22
542	c	CNT026	Central Corneal Ulcer	22
543	c	MCL071	Macular Dystrophy, Patterned, 2	22
544		FLY003	Flynn-Aird Syndrome	22
545		ERY043	Euryblepharon	22
546		TTR019	Tetrasomy 5p	22
547		MTC230	Mitochondrial Complex I Deficiency, Nuclear Type 36	22
548	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	21
549	c	RTN196	Retinitis Pigmentosa 78	21
550	c	MCL051	Macular Degeneration, Age-Related, 12	21
551	c	SPS023	Spastic Paraplegia 13	21
552	c	ORT012	Orthostatic Hypotension 2	21
553		ISL019	Isolated Duane Retraction Syndrome	21
554		ALG024	Alg6-Congenital Disorder of Glycosylation	21
555		ERL042	Early-Onset Partial Cataract	21
556	c	NGH022	Night Blindness, Congenital Stationary, Type 1g	21
557	c	SPS233	Spastic Ataxia 9, Autosomal Recessive	21
558		CRN023	Corneal Deposit	21
559	c	SPS171	Spastic Ataxia 5	21
560		CTF001	Catifa Syndrome	21
561	c	SPS229	Spastic Ataxia 8	21
562		ERL041	Early-Onset Zonular Cataract	21
563	c	JBR049	Joubert Syndrome 37	21
564		SPS087	Spasmus Nutans	20
565	c	CRN242	Corneal Dystrophy, Fuchs Endothelial, 2	20
566	P	STR111	Stromal Corneal Dystrophy	20
567		ORB019	Orbital Margin, Hypoplasia of	20
568	c	LKD033	Leukodystrophy, Hypomyelinating, 20	20
569	c	GLC089	Glaucoma 3, Primary Congenital, E	20
570	c	MYP141	Myopia 5, Autosomal Dominant	20
571		DST044	Distal Trisomy 14q	20
572	c	CRN218	Corneal Dystrophy, Fuchs Endothelial, 8	19
573		RTN170	Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities	19
574	c	ADL071	Adult Krabbe Disease	19
575		DST036	Distal Trisomy 15q	19
576	c	SPS240	Spastic Paraplegia 83, Autosomal Recessive	19
577	c	ASP028	Asperger Syndrome, X-Linked 1	19
578	c	ACT030	Acute Dacryoadenitis	19
579		BLT023	Bilateral Acute Depigmentation of the Iris	18
580	c	NNN032	Non-Infectious Posterior Uveitis	18
581	P	ACT070	Acute Inflammation of Lacrimal Passage	18
582		OPH014	Ophthalmomandibulomelic Dysplasia	18
583		CNG171	Congenital Plasminogen Deficiency	18
584		BRW005	Brawny Scleritis	18
585		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	18
586	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	18
587	c	CTR178	Cataract 27	18
588		MCR317	Macrophthalmia, Colobomatous, with Microcornea	18
589	c	KRT053	Keratoconus 7	18
590		PLZ007	Pelizaeus-Merzbacher Disease, Classic Form	18
591	P	MYP137	Myopia 1, X-Linked	18
592		RTC011	Reticular Dystrophy of Retinal Pigment Epithelium	18
593	c	MCL032	Macular Degeneration, Age-Related, 11	18
594		BLP042	Blepharoptosis, Myopia, and Ectopia Lentis	17
595		MCR303	Macrosomia with Microphthalmia, Lethal	17
596	c	TYS005	Tay-Sachs Disease, B1 Variant	17
597	c	MCL065	Macular Degeneration, Age-Related, 15	17
598		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	17
599	c	SPS028	Spastic Paraplegia 18	17
600		HYD049	Hydrocephalus with Cerebellar Agenesis	17
601		CNT088	Central Cloudy Dystrophy of Francois	17
602	c	INF152	Infectious Posterior Uveitis	17
603	P	CNG348	Congenital Sialidosis Type 2	17
604	c	MYP040	Myopia 7	16
605		AMR007	Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis	16
606		PRS110	Persistent Placoid Maculopathy	16
607	c	MCL026	Macular Dystrophy, Retinal, 3	16
608	c	JVN036	Juvenile Sialidosis Type 2	16
609	c	KRT040	Keratoconus 3	16
610		HRP038	Herpes Simplex Virus Stromal Keratitis	16
611	c	KRT039	Keratoconus 2	15
612		PRG117	Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome	15
613	c	LKD034	Leukodystrophy, Hypomyelinating, 21	15
614	c	GLC076	Glaucoma 1, Open Angle, H	15
615	c	CRN121	Corneal Dystrophy, Fuchs Endothelial, 5	15
616		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	15
617		PTS017	Ptosis, Strabismus, and Ectopic Pupils	15
618	c	MYP145	Myopia 16, Autosomal Dominant	15
619	c	GLC052	Glaucoma 3, Primary Congenital, C	14
620		MNF001	Monofixation Syndrome	14
621		SPP006	Suppurative Uveitis	14
622	c	KRT041	Keratoconus 4	14
623	c	NNP008	Nanophthalmos 3	14
624	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	14
625		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	14
626		MCR070	Microcornea, Glaucoma, and Absent Frontal Sinuses	14
627	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	14
628		ORB016	Orbital Varix	14
629	c	MYP134	Myopia 13, X-Linked	14
630	P	NNN030	Non-Infectious Anterior Uveitis	14
631		MNS013	Monosomy 13q34	14
632	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	14
633		CRT080	Cortical Blindness, Retardation, and Postaxial Polydactyly	14
634		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	13
635		CNG400	Congenital Hereditary Endothelial Dystrophy Type I	13
636		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	13
637	c	CRN122	Corneal Dystrophy, Fuchs Endothelial, 7	13
638	c	CTR025	Cataract, Total Congenital	13
639		TRP011	Triopia	13
640		PRP103	Peripapillary Staphyloma	13
641		ERL036	Early-Onset Posterior Subcapsular Cataract	12
642		RTN189	Retinal Capillary Malformation	12
643		CNG335	Congenital Ectropion Uveae	12
644	c	MYP084	Myopia 20, Autosomal Dominant	12
645	c	SPS033	Spastic Paraplegia 25	11
646		SCL005	Scleroperikeratitis	11
647		SYN124	Syndromic Inherited Retinal Disorder	11
648	c	ALC031	Alacrima, Congenital, Autosomal Dominant	11
649		INT284	Intellectual Disability-Cataracts-Kyphosis Syndrome	10
650	c	IDP048	Idiopathic Posterior Uveitis	10
651	P	MCR048	Microcephaly Chorioretinopathy Recessive Form	10
652		HRD017	Hordeolum Externum	10
653	c	PSD023	Pseudo-Gaucher Disease	10
654		ISL065	Isolated Congenital Alacrima	10
655		DBL001	Double Pterygium	10
656		FND005	Fundus Pulverulentus	9
657	c	ALC032	Alacrima, Congenital, Autosomal Recessive	9
658		MLT117	Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	9
659		NYS018	Nystagmus, Voluntary	8
660		LNS002	Lens-Induced Iridocyclitis	8
661		TRS020	Tarsal Kink Syndrome	8
662		NBL002	Noble Bass Sherman Syndrome	8
663		SYN127	Syndromic Ectopia Lentis	8
664		EPS002	Episcleritis Periodica Fugax	7
665	c	IDP066	Idiopathic Macular Telangiectasia Type 3	7
666		SYN150	Syndromic Cataract	7
667	c	TXC018	Toxic Maculopathy Due to Antimalarial Drugs	6
668		OCL075	Oculocutaneous or Ocular Albinism	5
669		PHK010	Phakomatosis Spilorosea	5
670		SYN144	Syndromic Outer Canthal Malposition	5
671		CRN313	Corneodysgenesis	5
672		NLX006	Neu-Laxova Syndrome Due to 3-Phosphoglycerate Dehydrogenase Deficiency	5
673		SYN143	Syndromic Telecanthus	4
674		SYN128	Syndromic Macular Dystrophy	4
675	c	SYS074	Systemic Diseases with Anterior Uveitis	4
676	c	SYS076	Systemic Diseases with Posterior Uveitis	4
677		ISL126	Isolated Iridoschisis	4
678		SYN126	Syndromic Microspherophakia	4
679		MCR377	Microblepharon-Ablephara Syndrome	4
680	c	OCL037	Oculodentodigital Dysplasia Dominant	4
681	c	RRD050	Rare Disorder of the Pupil	4
682		IDP050	Idiopathic Linear Interstitial Keratitis	4
683		PDT047	Pediatric-Onset Glaucoma	4
684		LNS007	Lens Shape Anomaly	3
685	P	LGB001	Leg Absence Deformity Cataract	3
686		SYN129	Syndromic Chorioretinal Dystrophy	3
687		ISL147	Isolated Stationary Inherited Retinal Disorder	3
688		INF183	Inflammatory/autoimmune Disorder Involving the Lacrimal System	3
689		CRN312	Craniofacial Anomaly with Cataract	3
690		DNT052	Dentocutaneous Disease with Cataract	3
691		SYN151	Syndromic Corneal Dystrophy	3
692		SYN153	Syndromic Hyperopia	3
693		CRN314	Craniostenosis with Strabismus	3
694		OCL009	Ocular Cancer	54
695	c	SKN070	Skin/hair/eye Pigmentation, Variation in, 8	15
696		OCL022	Ocular Melanoma	54
697	P	NRP066	Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy	42
698		OPT008	Optic Nerve Neoplasm	28
699		RTN015	Retinal Cancer	49
700	c	NRP067	Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy	29
701		KPR002	Kapur-Toriello Syndrome	26
702	c	NRP068	Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy	21
703		ECZ002	Eczema Herpeticum	45
704		BLT005	Bilateral Meningioma of Optic Nerve	13
705		FLT006	Floating-Harbor Syndrome	52
706	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	26
707	P	INS002	in Situ Carcinoma	52
708		OPT007	Optic Nerve Glioma	41
709	c	PRM023	Pre-Malignant Neoplasm	31
710		WYB002	Wyburn-Mason Syndrome	29
711		NRD073	Neurodevelopmental Disorder with Visual Defects and Brain Anomalies	23
712		MLG010	Malignant Eyelid Melanoma	9
713	c	EYC001	Eye Carcinoma in Situ	7
714	P	LYM118	Lymphoma	66
715	c	LSS005	Lissencephaly 1	57
716	c	LSS006	Lissencephaly 2	54
717	P	LSS002	Lissencephaly	52
718		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	44
719	c	LSS009	Lissencephaly 3	40
720		FST001	Foster-Kennedy Syndrome	39
721	c	LSS010	Lissencephaly 4	38
722	P	SKN067	Skin/hair/eye Pigmentation, Variation in, 2	30
723	c	ADL001	Adult Lymphoma	29
724	c	LSS025	Lissencephaly 5	28
725	c	EYL003	Eye Lymphoma	27
726	c	LSS035	Lissencephaly 8	25
727		RTN011	Retina Lymphoma	25
728	c	LSS042	Lissencephaly 10	24
729		ICH079	Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features	18
730		WLF014	Wolfram Syndrome, Mitochondrial Form	18
731	c	LSS044	Lissencephaly 6	10
732	c	FBR046	Fibrosis of Extraocular Muscles, Congenital, 1	58
733		FCL045	Focal Facial Dermal Dysplasia 3, Setleis Type	32
734	c	FBR050	Fibrosis of Extraocular Muscles, Congenital, 2	27
735		WBB001	Webb-Dattani Syndrome	23
736		NRD097	Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline	21
737		NRD082	Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies	20
738	c	FBR078	Fibrosis of Extraocular Muscles, Congenital, 5	18
739	P	FBR081	Fibrosis of Extraocular Muscles, Congenital, 3c	16
740		SPN008	Spondyloepiphyseal Dysplasia Congenita	54
741	P	FML023	Familial Hemiplegic Migraine	53
742		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	50
743		ATX019	Ataxia with Vitamin E Deficiency	44
744		HYD065	Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies	34
745		ATX047	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation	15
746		LBR037	Leber Hereditary Optic Neuropathy with Demyelinating Disease of Cns	4
747		PTT046	Pituitary Hormone Deficiency, Combined, 2	62
748		TRN015	Transient Cerebral Ischemia	62
749		HMN009	Hemangioblastoma	53
750		TXC002	Toxic Encephalopathy	51
751		WRN002	Wernicke-Korsakoff Syndrome	49
752		RTN003	Retinal Ischemia	48
753		RTN020	Retinal Vascular Disease	45
754	P	SPN202	Spinocerebellar Ataxia, X-Linked 1	41
755		MND025	Mandibulofacial Dysostosis with Alopecia	40
756		EXD009	Exudative Vitreoretinopathy 2, X-Linked	39
757		SWN003	Sweeney-Cox Syndrome	39
758	c	KNN007	Kenny-Caffey Syndrome, Type 2	39
759		PST036	Posterior Column Ataxia with Retinitis Pigmentosa	38
760	c	SPN363	Spinocerebellar Ataxia, X-Linked 4	36
761	P	KNN002	Kenny-Caffey Syndrome	33
762	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	31
763	P	BRN140	Brain Small Vessel Disease 2	30
764		KPP002	Keppen-Lubinsky Syndrome	30
765	c	SPR083	Sporadic Hemiplegic Migraine	29
766		TTR024	Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities	28
767		BRW006	Brown Syndrome	27
768		TXC008	Toxic Optic Neuropathy	27
769	c	ATS009	Autosomal Genetic Disease	26
770		NRD099	Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity	24
771		CHR158	Charles Bonnet Syndrome	23
772	c	BRN141	Brain Small Vessel Disease 3	23
773		MYC075	Myoclonus, Intractable, Neonatal	23
774		CLC058	Clcn2-Related Leukoencephalopathy	22
775	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	21
776	c	CNR041	Cone-Rod Dystrophy and Hearing Loss 2	19
777		MTC217	Mitochondrial Complex Iv Deficiency, Nuclear Type 8	19
778		ABS003	Absence of Septum Pellucidum	18
779		TRN073	Trnt1 Deficiency	16
780	c	SKN060	Skin/hair/eye Pigmentation, Variation in, 11	16
781		PST054	Postinfectious Encephalomyelitis	15
782	P	ATP015	Atp1a3-Related Neurologic Disorders	13
783		MNT316	Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature	12
784		RRR001	Rere-Related Disorders	12
785	c	MCR373	Mecr-Related Neurologic Disorder	11
786	P	OPT029	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant	10
787	c	CL4005	Col4a1-Related Brain Small-Vessel Disease	7
788	P	RRG076	Rare Genetic Eye Disease	6
789		XRD002	Xeroderma of Eyelid	5
790		RRG048	Rare Genetic Disorder Involving Multiple Structures of the Eye	3
791	c	RRG052	Rare Genetic Disorder of the Posterior Segment of the Eye	3
792		RRG062	Rare Genetic Eyelid Malposition Disorder	3
793	P	PRK057	Parkinson Disease, Late-Onset	79
794		DWN001	Down Syndrome	70
795		BHC003	Behcet Syndrome	70
796		CNT097	Central Hypoventilation Syndrome, Congenital	70
797	P	OST001	Osteopetrosis	70
798	P	ALP004	Alport Syndrome	69
799		SMT004	Smith-Lemli-Opitz Syndrome	69
800	P	HYP802	Hypocalcemia, Autosomal Dominant 1	68
801	P	TRN020	Turner Syndrome	67
802	P	DYS007	Dyskeratosis Congenita	66
803	P	PRM002	Primary Hyperoxaluria	65
804	P	MCK013	Meckel Syndrome, Type 1	64
805	c	MCL013	Mucolipidosis Iv	64
806	P	CFF008	Coffin-Siris Syndrome 1	63
807		SPT006	Septooptic Dysplasia	62
808	P	STS008	Sotos Syndrome 1	62
809	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	62
810	P	ACH003	Achromatopsia	61
811		MSL001	Measles	61
812		CHN055	Chanarin-Dorfman Syndrome	61
813	P	STR022	Stargardt Disease	61
814		NRM001	Neuromyelitis Optica	60
815	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	60
816		OST024	Osteoporosis-Pseudoglioma Syndrome	60
817	c	WLF013	Wolfram Syndrome 1	60
818	c	MSC037	Muscular Dystrophy-Dystroglycanopathy , Type a, 4	59
819		PPL048	Papillorenal Syndrome	58
820		ENH001	Enhanced S-Cone Syndrome	58
821	c	GLC097	Glaucoma 3, Primary Congenital, a	58
822	P	SPN429	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2	57
823		WLF002	Wolf-Hirschhorn Syndrome	57
824	P	STR020	Strabismus	56
825		TRC096	Trichothiodystrophy	56
826	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	56
827		FND001	Fundus Albipunctatus	56
828		SLP001	Sleeping Sickness	56
829	P	ICH004	Ichthyosis	56
830		MRS002	Marshall Syndrome	55
831	P	PLC011	Pilocytic Astrocytoma	55
832		BRN004	Brain Edema	54
833	c	STR084	Stargardt Disease 1	54
834	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	54
835	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	54
836	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	53
837	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	53
838		DNR002	Duane-Radial Ray Syndrome	53
839	c	CNR007	Cone-Rod Dystrophy 6	53
840	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	53
841	P	END047	Endophthalmitis	53
842		MCR165	Microphthalmia with Limb Anomalies	53
843	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	53
844		TRC008	Trachoma	53
845	c	SPN294	Spinocerebellar Ataxia 1	53
846	P	DNR001	Duane Retraction Syndrome	53
847		OCL008	Oculopharyngeal Muscular Dystrophy	52
848		ATX049	Ataxia with Vitamin 3 Deficiency	52
849	P	LNR013	Linear Skin Defects with Multiple Congenital Anomalies 1	52
850		OCL020	Ocular Cicatricial Pemphigoid	52
851	c	LKD019	Leukodystrophy, Hypomyelinating, 6	52
852	c	MCR113	Microvascular Complications of Diabetes 3	52
853		NVS001	Neovascular Glaucoma	52
854		FRY006	Fryns Microphthalmia Syndrome	52
855	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	51
856		LMB050	Limbal Stem Cell Deficiency	51
857		APR001	Apraxia	51
858	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	51
859		CTS003	Coats Disease	51
860		ALL009	Allergic Conjunctivitis	51
861	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	51
862		ICH054	Ichthyosis, X-Linked	51
863	c	PRK085	Parkinson Disease 1, Autosomal Dominant	50
864		EXP004	Exophthalmos	50
865	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	50
866	c	HRD173	Hereditary Late-Onset Parkinson Disease	50
867	c	PRK093	Parkinson Disease 8, Autosomal Dominant	50
868	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
869		JCK001	Jackson-Weiss Syndrome	49
870	P	FML362	Familial Isolated Hypoparathyroidism	49
871	P	KRT007	Keratoconus	49
872		TRT020	Tritanopia	49
873	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	49
874	c	MCK032	Meckel Syndrome, Type 3	49
875	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	49
876	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	49
877	c	MCR263	Microphthalmia, Syndromic 1	49
878	P	PNV001	Panuveitis	48
879	c	SPN311	Spinocerebellar Ataxia 13	48
880	c	LKD010	Leukodystrophy, Hypomyelinating, 2	48
881	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	48
882	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	48
883	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	48
884	c	DSB006	Desbuquois Dysplasia 1	48
885		BLL004	Bullous Keratopathy	48
886	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	47
887		NRM019	Neuraminidase Deficiency	47
888	P	SCL015	Scleritis	47
889		PRS012	Pars Planitis	47
890		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	47
891	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	47
892	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	47
893	P	CRN028	Corneal Ulcer	47
894	c	JBR014	Joubert Syndrome 9	46
895	c	PNT036	Pontocerebellar Hypoplasia, Type 6	46
896	c	GM2006	Gm2 Gangliosidosis	46
897		AST006	Astigmatism	46
898	P	MTC010	Mitochondrial Dna Depletion Syndrome	46
899		RTN001	Retinal Vasculitis	46
900	c	HRD026	Hereditary Ataxia	46
901	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	46
902	c	OPT068	Optic Atrophy 3, Autosomal Dominant	46
903	c	BRD033	Bardet-Biedl Syndrome 13	46
904		ACR012	Aicardi Syndrome	46
905	c	LBR013	Leber Congenital Amaurosis 3	46
906	c	HRM009	Hermansky-Pudlak Syndrome 6	46
907	c	XLN229	X-Linked Chondrodysplasia Punctata 2	46
908	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	45
909	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	45
910	c	DVL037	Developmental and Epileptic Encephalopathy 5	45
911	c	JBR015	Joubert Syndrome 6	45
912	c	ICH049	Ichthyosis, Congenital, Autosomal Recessive 2	45
913	P	PNT019	Pontocerebellar Hypoplasia	45
914	c	JBR035	Joubert Syndrome 24	45
915	P	VTR007	Vitreoretinopathy	45
916	c	DVL118	Developmental and Epileptic Encephalopathy 94	45
917	c	JBR013	Joubert Syndrome 8	45
918	c	HRM012	Hermansky-Pudlak Syndrome 9	45
919		RTN021	Retinal Vascular Occlusion	45
920	c	PRK052	Parkinson Disease 17	45
921		CTY001	Cat Eye Syndrome	45
922		JLL001	Jalili Syndrome	45
923	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	45
924	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	44
925	c	PNT057	Pontocerebellar Hypoplasia, Type 1e	44
926	c	USH039	Usher Syndrome, Type Ic	44
927	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	44
928		PLR023	Polr3-Related Leukodystrophy	44
929	c	PRK065	Parkinson Disease 20, Early-Onset	44
930	c	KNB006	Knobloch Syndrome 1	44
931	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	43
932	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	43
933	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	43
934	c	MSC100	Muscular Dystrophy-Dystroglycanopathy , Type C, 9	43
935	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	43
936	c	CFF009	Coffin-Siris Syndrome 4	43
937	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	43
938		CRN049	Craniolenticulosutural Dysplasia	43
939	c	CFF007	Coffin-Siris Syndrome 2	43
940	c	JBR026	Joubert Syndrome 15	43
941		PRL047	Prolonged Electroretinal Response Suppression	43
942	c	LKD015	Leukodystrophy, Hypomyelinating, 3	43
943		INF006	Infant Botulism	43
944	c	LKD020	Leukodystrophy, Hypomyelinating, 10	42
945	c	CFF010	Coffin-Siris Syndrome 3	42
946	c	RTN042	Retinitis Pigmentosa 12	42
947	c	MCR250	Microcephaly 6, Primary, Autosomal Recessive	42
948	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	42
949	c	PRK071	Parkinson Disease 14, Autosomal Recessive	42
950	c	MCR238	Microcephaly 7, Primary, Autosomal Recessive	42
951	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	42
952		NVL003	Nivelon-Nivelon-Mabille Syndrome	42
953		XRP001	Xerophthalmia	42
954		ORB013	Orbital Disease	42
955	c	MCR114	Microphthalmia, Isolated 3	42
956	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	42
957	c	SPN335	Spinocerebellar Ataxia Type 1 with Axonal Neuropathy	42
958		PGM007	Pigmented Paravenous Chorioretinal Atrophy	42
959	c	MCR320	Microcephaly 17, Primary, Autosomal Recessive	42
960		PRK003	Parkes Weber Syndrome	41
961	c	PNT039	Pontocerebellar Hypoplasia, Type 7	41
962	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	41
963	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	41
964	c	RTN050	Retinitis Pigmentosa 20	41
965		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	41
966		CNC014	Cancer-Associated Retinopathy	41
967	c	PNT043	Pontocerebellar Hypoplasia, Type 4	41
968		MKL001	Mikulicz Disease	41
969	P	WRB001	Warburg Micro Syndrome	41
970	c	PST022	Posterior Uveal Melanoma	41
971	P	SPS008	Spastic Ataxia	41
972		CLR033	Color Vision Deficiency	41
973	c	BRD048	Bardet-Biedl Syndrome 18	41
974	c	PNT032	Pontocerebellar Hypoplasia, Type 9	41
975	c	CND011	Cone Dystrophy 3	41
976		EYL005	Eyelid Disease	40
977	c	CNR005	Cone-Rod Dystrophy 3	40
978	c	DVL030	Developmental and Epileptic Encephalopathy 36	40
979	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	40
980	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	40
981	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	40
982	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	40
983		ENP001	Enophthalmos	40
984		BLD161	Blood Group, Globoside System	40
985	c	LKD023	Leukodystrophy, Hypomyelinating, 12	40
986	c	OPT024	Optic Atrophy 5	39
987	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	39
988		OLV004	Oliver-Mcfarlane Syndrome	39
989	c	RTN142	Retinitis Pigmentosa 38	39
990	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	39
991	c	NNN021	Noonan Syndrome 8	39
992	c	LBR010	Leber Congenital Amaurosis 15	39
993	c	SPN430	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1	39
994	c	SPN103	Spinocerebellar Ataxia 31	39
995	c	CTR115	Cataract 16, Multiple Types	39
996	c	ERL056	Early-Onset Parkinson's Disease	39
997		PRS025	Presbyopia	39
998		CHR211	Chromosome 18p Deletion Syndrome	38
999	c	SPN105	Spinocerebellar Ataxia 4	38
1000	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	38
1001	c	PRK090	Parkinson Disease 3, Autosomal Dominant	38
1002	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	38
1003	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	38
1004	c	LBR011	Leber Congenital Amaurosis 16	38
1005		MCL069	Macular Dystrophy, Retinal, 1, North Carolina Type	38
1006	c	HRM010	Hermansky-Pudlak Syndrome 7	38
1007	c	MCR243	Microcephaly 8, Primary, Autosomal Recessive	38
1008		ORB012	Orbital Cancer	38
1009		CLR133	Colorblindness, Partial, Protan Series	38
1010		TRP014	Triploidy	38
1011	c	MCR109	Microphthalmia, Isolated 4	38
1012	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	38
1013		VBR001	Vibratory Urticaria	38
1014		ATX023	Ataxia, Sensory, 1, Autosomal Dominant	38
1015	c	CRN236	Corneal Dystrophy, Lattice Type I	37
1016	P	SCH017	Schindler Disease	37
1017	c	PRK091	Parkinson Disease 4, Autosomal Dominant	37
1018	c	MLG049	Malignant Syringoma	37
1019	c	PNT033	Pontocerebellar Hypoplasia, Type 10	37
1020		FCH002	Fuchs' Heterochromic Uveitis	37
1021	c	SCH069	Schindler Disease, Type I	37
1022		ARC025	Arachnoid Cysts, Intracranial	37
1023		ISL011	Isolated Aniridia	37
1024		CHR079	Choroid Disease	37
1025	c	3MT007	3-Methylglutaconic Aciduria	37
1026	P	RHM037	Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	37
1027	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	37
1028	c	RTN060	Retinitis Pigmentosa 31	37
1029		ISL062	Isolated Plagiocephaly	37
1030	P	PRS013	Prosopagnosia	37
1031	c	SPN419	Spinocerebellar Ataxia 45	36
1032	c	PRK070	Parkinson Disease 21	36
1033		GRN055	Granular Corneal Dystrophy	36
1034	c	DYS172	Dystonia 27	36
1035	c	LKD021	Leukodystrophy, Hypomyelinating, 11	36
1036	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	36
1037	P	SYR003	Syringoma	36
1038	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	36
1039	c	DVL061	Developmental and Epileptic Encephalopathy 34	36
1040		BRN041	Bornholm Eye Disease	36
1041	c	CFF011	Coffin-Siris Syndrome 6	36
1042	c	PRX055	Peroxisome Biogenesis Disorder 11a	36
1043	c	LKD008	Leukodystrophy, Hypomyelinating, 4	36
1044		CRB215	Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay	36
1045		XRD026	Xeroderma Pigmentosum-Cockayne Syndrome Complex	35
1046	c	XLN227	X-Linked Chondrodysplasia Punctata 1	35
1047		FRS019	Farsightedness	35
1048	P	HYP700	Hypomyelinating Leukodystrophy	35
1049	c	KNN009	Kenny-Caffey Syndrome, Type 1	35
1050	c	CTR111	Cataract 36	35
1051	c	NGH021	Night Blindness, Congenital Stationary, Autosomal Dominant 1	35
1052	c	LKD016	Leukodystrophy, Hypomyelinating, 9	35
1053		CYC001	Cycloplegia	35
1054	c	JVN009	Juvenile Pilocytic Astrocytoma	34
1055		CRB159	Cerebral Visual Impairment	34
1056		WGN007	Wagner Vitreoretinopathy	34
1057	c	WLL037	Weill-Marchesani Syndrome 2	34
1058		PST063	Postsynaptic Congenital Myasthenic Syndromes	34
1059	c	MYS064	Myasthenic Syndrome, Congenital, 16	34
1060		PNC059	Punctate Inner Choroidopathy	34
1061	c	RTN152	Retinitis Pigmentosa 66	34
1062	c	DYS145	Dystonia 23	33
1063		EXC003	Excessive Tearing	33
1064	c	HNT011	Huntington Disease-Like 3	33
1065	c	PRK025	Parkinson Disease 10	33
1066		CRN022	Corneal Degeneration	33
1067	c	PHL010	Peho-Like Syndrome	33
1068	c	PRX060	Peroxisome Biogenesis Disorder 5a	33
1069	c	MCR329	Microcephaly, Autosomal Dominant	33
1070	c	RTN136	Retinitis Pigmentosa 44	33
1071	c	SPN383	Spinocerebellar Ataxia 42	33
1072	c	ADM007	Adams-Oliver Syndrome 2	33
1073	c	CFF014	Coffin-Siris Syndrome 9	33
1074	c	OPT065	Optic Atrophy 9	33
1075	c	GLC083	Glaucoma 3, Primary Infantile, B	33
1076		LKC002	Leukocoria	33
1077		CLS047	Classic Progressive Supranuclear Palsy Syndrome	33
1078		MRN002	Mooren's Ulcer	33
1079	c	RTN057	Retinitis Pigmentosa 29	33
1080	c	PRX054	Peroxisome Biogenesis Disorder 12a	33
1081	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	32
1082	c	DVL057	Developmental and Epileptic Encephalopathy 31	32
1083	c	SPS036	Spastic Paraplegia 3	32
1084	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	32
1085		DFN256	Deafness and Myopia	32
1086	c	SHR032	Short Qt Syndrome 2	32
1087	c	ATP003	Atp6v0a2-Related Cutis Laxa	32
1088		CYS045	Cystinosis, Adult Nonnephropathic	32
1089	c	RTN035	Retinal Cone Dystrophy 3b	32
1090	c	NNN024	Noonan Syndrome 9	32
1091	c	RTN169	Retinitis Pigmentosa 70	32
1092		CRN238	Corneal Dystrophy, Epithelial Basement Membrane	32
1093	P	LTT001	Lattice Corneal Dystrophy	32
1094	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	31
1095	c	KRT029	Keratoconus 1	31
1096	c	ACQ001	Acquired Color Blindness	31
1097		SPR034	Superior Limbic Keratoconjunctivitis	31
1098	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	31
1099		TTR014	Tetrasomy 18p	31
1100	c	DSB005	Desbuquois Dysplasia 2	31
1101	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	31
1102		RTN212	Retinal Dystrophy with or Without Macular Staphyloma	31
1103		CLR132	Colorblindness, Partial, Deutan Series	31
1104		DGN002	Degenerative Myopia	31
1105		MCP039	Mucoepithelial Dysplasia, Hereditary	31
1106	c	RTN178	Retinitis Pigmentosa 72	31
1107	c	DVL053	Developmental and Epileptic Encephalopathy 27	31
1108	P	INT006	Intestinal Botulism	31
1109	c	DVL090	Developmental and Epileptic Encephalopathy 66	30
1110		EPL206	Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions	30
1111		OPT058	Optic Disc Anomalies with Retinal and/or Macular Dystrophy	30
1112	P	VTR008	Vitreoretinal Degeneration	30
1113	c	GLC100	Glaucoma 1, Open Angle, D	30
1114	P	CRN249	Cornea Plana	30
1115	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	30
1116	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	30
1117		FBR094	Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement	29
1118		LGH017	Leigh Syndrome with Nephrotic Syndrome	29
1119	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	29
1120	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	29
1121		DGN003	Degeneration of Macula and Posterior Pole	29
1122		PRP026	Peripheral Retinal Degeneration	29
1123	c	MYP018	Myopia 6	29
1124	c	DVL063	Developmental and Epileptic Encephalopathy 37	29
1125	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	29
1126	c	PNT050	Pontocerebellar Hypoplasia, Type 11	29
1127	c	PNT046	Pontocerebellar Hypoplasia, Type 5	29
1128		NDL008	Nodular Episcleritis	29
1129	c	SNR006	Senior-Loken Syndrome 6	29
1130		GNT004	Gnathomiasis	28
1131	c	BRD050	Bardet-Biedl Syndrome 21	28
1132		NCL001	Nuclear Senile Cataract	28
1133	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	28
1134	c	CHR088	Chronic Inflammation of Lacrimal Passage	28
1135	c	PRX091	Peroxisome Biogenesis Disorder 8a	28
1136	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	28
1137		SNJ002	Snijders Blok-Campeau Syndrome	28
1138		PRL014	Paralytic Squint	28
1139	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	28
1140		CHR077	Chorioretinal Scar	28
1141		STC017	Stickler Syndrome, Type I, Nonsyndromic Ocular	28
1142		NRD080	Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities	28
1143	c	SNR015	Senior-Loken Syndrome 8	28
1144	c	DVL094	Developmental and Epileptic Encephalopathy 70	28
1145		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	27
1146	c	JBR039	Joubert Syndrome 28	27
1147	c	DVL099	Developmental and Epileptic Encephalopathy 75	27
1148	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	27
1149		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	27
1150	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	27
1151	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
1152	c	DVL088	Developmental and Epileptic Encephalopathy 64	27
1153		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	27
1154	c	DVL076	Developmental and Epileptic Encephalopathy 52	27
1155	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	27
1156	c	SNR007	Senior-Loken Syndrome 7	26
1157	c	DVL047	Developmental and Epileptic Encephalopathy 19	26
1158		HYP048	Hypotropia	26
1159	c	CFF012	Coffin-Siris Syndrome 7	26
1160	c	DVL072	Developmental and Epileptic Encephalopathy 47	26
1161		ISL089	Isolated Scaphocephaly	26
1162	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	26
1163	c	JVN058	Juvenile-Onset Parkinson's Disease	26
1164	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	26
1165		CRB165	Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation	26
1166		MRN005	Marie Unna Congenital Hypotrichosis	26
1167		CRL001	Cerulean Cataract	26
1168	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	26
1169	c	SPN372	Spinocerebellar Ataxia 43	26
1170	c	GLL042	Galloway-Mowat Syndrome 5	26
1171	c	PRK083	Parkinson Disease 22, Autosomal Dominant	26
1172	c	DVL080	Developmental and Epileptic Encephalopathy 56	26
1173		NCR009	Necrobiotic Xanthogranuloma	26
1174	c	ANR047	Aniridia 2	26
1175	c	PNT053	Pontocerebellar Hypoplasia, Type 13	26
1176	c	SYN073	Syngap1-Related Intellectual Disability	26
1177		BKR002	Baker-Gordon Syndrome	25
1178	c	DVL092	Developmental and Epileptic Encephalopathy 68	25
1179	c	DVL074	Developmental and Epileptic Encephalopathy 49	25
1180	c	PRK098	Parkinson Disease 5, Autosomal Dominant	25
1181	c	LKD030	Leukodystrophy, Hypomyelinating, 17	25
1182	c	PRK094	Parkinson Disease 11, Autosomal Dominant	25
1183	c	RTN116	Retinitis Pigmentosa 56	25
1184		OLG014	Oligocone Trichromacy	25
1185	c	LKD031	Leukodystrophy, Hypomyelinating, 18	25
1186	c	MCR219	Microphthalmia, Isolated 8	25
1187	c	DVL109	Developmental and Epileptic Encephalopathy 87	25
1188	c	ANT067	Anterior Segment Dysgenesis 8	25
1189	c	CFF006	Coffin-Siris Syndrome 5	25
1190	c	CFF013	Coffin-Siris Syndrome 8	25
1191	c	PRK099	Parkinson Disease 18, Autosomal Dominant	25
1192	c	CHR449	Choroidal Dystrophy, Central Areolar 2	25
1193	c	ERY062	Erythrokeratodermia Variabilis Et Progressiva 5	25
1194	c	MCK028	Meckel Syndrome 13	25
1195	c	MCR272	Microcephaly and Chorioretinopathy, Autosomal Recessive, 3	25
1196	c	DVL086	Developmental and Epileptic Encephalopathy 62	25
1197	c	SPN432	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3	25
1198	c	GLC054	Glaucoma 3, Primary Congenital, D	25
1199	c	MTC182	Mitochondrial Dna Depletion Syndrome 16	25
1200		MLN046	Melanoma-Associated Retinopathy	25
1201	c	MCK036	Meckel Syndrome, Type 9	25
1202		JBR046	Jaberi-Elahi Syndrome	25
1203	c	USH011	Usher Syndrome, Type 2b	25
1204	c	DVL084	Developmental and Epileptic Encephalopathy 60	24
1205	c	WLL038	Weill-Marchesani Syndrome 3	24
1206		DRM043	Dermochondrocorneal Dystrophy	24
1207	c	DVL104	Developmental and Epileptic Encephalopathy 81	24
1208	c	HRM020	Hermansky-Pudlak Syndrome 10	24
1209	c	LKD027	Leukodystrophy, Hypomyelinating, 14	24
1210		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	24
1211		ORB003	Orbital Tenonitis	24
1212	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	24
1213	c	SNR005	Senior-Loken Syndrome 5	24
1214	c	LKD022	Leukodystrophy, Hypomyelinating, 13	24
1215	c	RTN230	Retinitis Pigmentosa 88	24
1216	c	DVL098	Developmental and Epileptic Encephalopathy 74	24
1217	c	DVL105	Developmental and Epileptic Encephalopathy 82	24
1218		HRD019	Hereditary Choroidal Atrophy	24
1219	c	NYS012	Nystagmus 5, Congenital, X-Linked	24
1220		MCR220	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus	24
1221	c	DVL095	Developmental and Epileptic Encephalopathy 71	24
1222	c	CNR032	Cone-Rod Dystrophy 21	23
1223	c	SPS238	Spastic Paraplegia 81, Autosomal Recessive	23
1224	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
1225	c	NNN029	Noonan Syndrome 11	23
1226	P	ACT077	Acute Orbital Inflammation	23
1227		CNG005	Congenital Aphakia	23
1228	P	NBS002	Nabais Sa-De Vries Syndrome, Type 2	23
1229	c	JBR047	Joubert Syndrome 35	23
1230	c	RTN051	Retinitis Pigmentosa 22	23
1231	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	23
1232	c	SPN434	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3	23
1233		HYP213	Hypomelanotic Disorder	23
1234	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	23
1235		ANK013	Ankyloblepharon Filiforme Adnatum and Cleft Palate	23
1236		SHR065	Short Stature with Microcephaly and Distinctive Facies	23
1237	c	DVL096	Developmental and Epileptic Encephalopathy 72	23
1238	c	PRK096	Parkinson Disease 13, Autosomal Dominant	23
1239		EPL011	Epilepsy, Benign Occipital	22
1240		HYP047	Hypertropia	22
1241	c	ANT087	Anterior Segment Dysgenesis 6	22
1242		8P2002	8p23.1 Duplication Syndrome	22
1243	c	CFF015	Coffin-Siris Syndrome 10	22
1244		MCD002	Mcdonough Syndrome	22
1245	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	22
1246	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	22
1247	c	SPS239	Spastic Paraplegia 82, Autosomal Recessive	22
1248	c	DYS138	Dystonia 21	22
1249	c	CFF016	Coffin-Siris Syndrome 11	22
1250	c	CHR093	Chronic Orbital Inflammation	22
1251		SRP002	Serpiginous Choroiditis	22
1252	c	SPS038	Spastic Paraplegia 39	22
1253	c	LKD029	Leukodystrophy, Hypomyelinating, 16	22
1254		CMB069	Combined Hamartoma of the Retina and Retinal Pigment Epithelium	22
1255		ATX037	Ataxia-Deafness-Retardation Syndrome	22
1256		PRL018	Purulent Endophthalmitis	22
1257		CNG357	Congenital Symblepharon	22
1258	c	RTN227	Retinitis Pigmentosa 86	22
1259		CYC003	Cyclotropia	22
1260	c	CHR059	Chronic Endophthalmitis	21
1261		CTR027	Cataract-Glaucoma	21
1262	c	PNT052	Pontocerebellar Hypoplasia, Type 12	21
1263		ATS012	Autosomal Dominant Partial Epilepsy with Auditory Features	21
1264		SHK001	Shaken Baby Syndrome	21
1265	c	MTC204	Mitochondrial Dna Depletion Syndrome 18	21
1266	c	DVL110	Developmental and Epileptic Encephalopathy 88	21
1267		SYN149	Syndromic Rod-Cone Dystrophy	21
1268		VSL004	Visual Cortex Disease	21
1269	c	MTC213	Mitochondrial Dna Depletion Syndrome 19	21
1270		PHK008	Phakomatosis Cesioflammea	21
1271		PLL009	Pellucid Marginal Degeneration	21
1272	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	21
1273		CHR241	Chromosome 2q24 Microdeletion Syndrome	21
1274		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	21
1275	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	21
1276	c	ADL084	Adult-Onset Myasthenia Gravis	21
1277	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	21
1278		SYN120	Syndromic Oculocutaneous Albinism	21
1279	c	MYP146	Myopia 15, Autosomal Dominant	21
1280	c	HRN024	Horner Syndrome, Congenital	20
1281	c	VCN001	Vcan-Related Vitreoretinopathy	20
1282		MTC181	Mitochondrial Dna-Related Progressive External Ophthalmoplegia	20
1283	c	SPS163	Spastic Ataxia 3	20
1284	c	NBS001	Nabais Sa-De Vries Syndrome, Type 1	20
1285	c	CTR144	Cataract 43	20
1286	c	MYP070	Myopia 21, Autosomal Dominant	20
1287	P	PTT054	Patterned Macular Dystrophy	20
1288	c	RTN214	Retinitis Pigmentosa 81	20
1289	c	MTC200	Mitochondrial Dna Depletion Syndrome 17	20
1290	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	20
1291	c	HYP573	Hypotrichosis 5	20
1292		PRD026	Pre-Descemet Corneal Dystrophy	20
1293	c	CTR139	Cataract 42	20
1294	c	MNS011	Monosomy 9q22.3	20
1295	c	MYP074	Myopia 23, Autosomal Recessive	20
1296		OCL071	Oculocerebral Hypopigmentation Syndrome of Preus	20
1297		ANT065	Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis	20
1298		RTN037	Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma	19
1299		AMB007	Amoebic Keratitis	19
1300	c	LKD032	Leukodystrophy, Hypomyelinating, 19, Transient Infantile	19
1301		GNT023	Gnathostoma Infection	19
1302	c	CRN279	Cornea Plana 1, Autosomal Dominant	19
1303		OCL043	Oculorenocerebellar Syndrome	19
1304		MYP060	Myopic Macular Degeneration	19
1305	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	19
1306	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	19
1307	c	MYP090	Myopia 24, Autosomal Dominant	19
1308		CRM007	Crome Syndrome	19
1309		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	19
1310	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	19
1311	P	ASP029	Asperger Syndrome, X-Linked 2	19
1312		RTN185	Retinal Dysplasia, Primary	19
1313	c	CTR128	Cataract 33	19
1314	c	MYP117	Myopia 25, Autosomal Dominant	19
1315		APP006	Apperceptive Agnosia	19
1316	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	19
1317	c	ICH071	Ichthyosis, Congenital, Autosomal Recessive 12	19
1318	c	GLC101	Glaucoma 1, Open Angle, B	19
1319	P	NMN011	Niemann-Pick Disease Type C, Adult Neurologic Onset	19
1320		BLP011	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	19
1321	c	PRK058	Parkinson Disease 16	18
1322		VSL012	Visual Snow Syndrome	18
1323	c	SPS170	Spastic Ataxia 2	18
1324	c	ERY068	Erythrokeratodermia Variabilis Et Progressiva 6	18
1325	c	MYP044	Myopia 10	18
1326		PHC015	Phacoanaphylactic Uveitis	18
1327	c	MYP075	Myopia 22, Autosomal Dominant	18
1328		OCL057	Oculotrichodysplasia	18
1329	c	NMN012	Niemann-Pick Disease Type C, Juvenile Neurologic Onset	18
1330		MCL029	Macular Degeneration, X-Linked Atrophic	18
1331		HRS003	Hirschsprung Disease Ganglioneuroblastoma	18
1332		IDP047	Idiopathic Panuveitis	18
1333	c	GLC051	Glaucoma 1, Open Angle, M	18
1334	c	TRN062	Transient Neonatal Myasthenia Gravis	18
1335		DRM015	Dermoids of Cornea	17
1336		BRC094	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	17
1337	c	DVL032	Developmental and Epileptic Encephalopathy 90	17
1338		INT008	Intermittent Squint	17
1339	c	PRK022	Parkinson Disease 12	17
1340	c	NMN009	Niemann-Pick Disease Type C, Late Infantile Neurologic Onset	17
1341	c	NMN010	Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset	17
1342	c	KRT050	Keratoconus 5	17
1343	c	KRT052	Keratoconus 6	17
1344		MLN018	Moloney Syndrome	17
1345		CLB018	Coloboma of Eyelid	17
1346	c	MTC014	Mitochondrial Dna Deletion Syndromes	16
1347		ACR078	Acral Self-Healing Collodion Baby	16
1348		ACT235	Acute Macular Neuroretinopathy	16
1349		MSC133	Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus	16
1350	c	KRT054	Keratoconus 8	16
1351		OST148	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	16
1352		ERL040	Early-Onset Sutural Cataract	16
1353	c	ERY072	Erythrokeratodermia Variabilis Et Progressiva 7	16
1354		ESS005	Essential Iris Atrophy	16
1355	c	CNG596	Congenital Ectropion	16
1356	c	PNT055	Pontocerebellar Hypoplasia, Type 14	16
1357		HYP667	Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	16
1358		CLB008	Coloboma of Eye Lens	16
1359	c	MYP147	Myopia 19, Autosomal Dominant	16
1360		CLM004	Climatic Droplet Keratopathy	16
1361		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
1362		MCR078	Microphthalmia Microtia Fetal Akinesia	16
1363		CNG362	Congenital Trochlear Nerve Palsy	16
1364		ERL037	Early-Onset Lamellar Cataract	16
1365		OST058	Osteopoikilosis and Dacryocystitis	16
1366	c	CHR035	Chronic Dacryoadenitis	15
1367		DST082	Distal Trisomy 10q	15
1368	c	GLC048	Glaucoma 1, Open Angle, I	15
1369	c	CLC009	Clcn7-Related Osteopetrosis	15
1370	c	HNT014	Huntington Disease-Like Syndrome Due to C9orf72 Expansions	15
1371	c	MCR282	Microcephaly and Chorioretinopathy 1	15
1372		IDP043	Idiopathic Uveal Effusion Syndrome	15
1373		BNC002	Binocular Vision Disease	15
1374		PRG115	Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome	15
1375		CNG457	Congenital Oculomotor Nerve Palsy	14
1376	c	BCL018	Bcl11a-Related Intellectual Disability	14
1377	c	PNT058	Pontocerebellar Hypoplasia, Type 1f	14
1378		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	14
1379	c	LTN017	Late-Infantile/juvenile Krabbe Disease	14
1380	c	PNT056	Pontocerebellar Hypoplasia, Type 15	14
1381		10Q004	10q26 Deletion Syndrome	14
1382		ATS495	Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	14
1383	c	CSK002	Cask-Related Intellectual Disability	14
1384		VSC048	Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	14
1385		INT176	Intraocular Medulloepithelioma	14
1386		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1387		ISL128	Isolated Microspherophakia	13
1388		PLZ008	Pelizaeus-Merzbacher Disease, Transitional Form	13
1389		ETH013	Euthyroid Graves Orbitopathy	13
1390		INF184	Infective Keratitis	13
1391		SYN112	Syndromic Microphthalmia-Anophthalmia-Coloboma	13
1392		ORB018	Orbital Leiomyoma	13
1393	c	CCH011	Coach Syndrome 3	13
1394		CLB032	Coloboma of Macula and Skeletal Anomalies	13
1395	c	VPS003	Vps35-Related Parkinson Disease	13
1396		CTR153	Cataract-Deafness-Hypogonadism Syndrome	13
1397	c	INF151	Infectious Panuveitis	13
1398		PLZ009	Pelizaeus-Merzbacher Disease in Female Carriers	13
1399	c	MLN039	Melanoma, Uveal 1	13
1400		PSD101	Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa	12
1401		ISL131	Isolated Foveal Hypoplasia	12
1402		FLC004	Fleck Retina of Kandori	12
1403	c	MLN041	Melanoma, Uveal 2	12
1404		ANR041	Aniridia-Intellectual Disability Syndrome	12
1405		CLF040	Cleft Lip-Retinopathy Syndrome	12
1406	P	RRN017	Rare Intellectual Disability	12
1407	c	ADL101	Adult-Onset Steinert Myotonic Dystrophy	12
1408	c	SYR009	Syringomas, Multiple	12
1409		TXN001	Toxin-Mediated Infectious Botulism	12
1410	c	SCL053	Sclerocornea, Autosomal Dominant	11
1411		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	11
1412		SPR147	Superficial Corneal Dystrophy	11
1413		RCR030	Recurrent Idiopathic Neuroretinitis	11
1414	P	RRT024	Rare Ataxia	11
1415	P	CNG595	Congenital Alacrima	11
1416		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	11
1417		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	10
1418	c	TRR002	Trio-Related Intellectual Disability	10
1419		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	10
1420		ACT168	Acute Annular Outer Retinopathy	10
1421	c	WCR002	Wac-Related Intellectual Disability	10
1422		TRR003	Terrien Marginal Degeneration	10
1423		CNG458	Congenital Abducens Nerve Palsy	10
1424	c	WDR002	Wdr26-Related Intellectual Disability	10
1425	c	SPS162	Spastic Ataxia 1	10
1426	c	HVP001	Hivep2-Related Intellectual Disability	10
1427	c	ATS403	Autosomal Dominant Intellectual Disability 40	10
1428	c	ATS437	Autosomal Dominant Spastic Ataxia	9
1429		INV017	Inverse Marcus-Gunn Phenomenon	9
1430	c	MLT169	Multiple Mitochondrial Dna Deletion Syndrome	9
1431	c	RRH004	Rare Hereditary Ataxia	9
1432	c	ACQ056	Acquired Ataxia	9
1433	c	RRC027	Rare Corneal Disorder	8
1434		EXT057	Extensive Peripapillary Myelinated Nerve Fibers	8
1435	c	ATS360	Autosomal Recessive Intellectual Disability 58	8
1436	c	GLC032	Glaucoma, Hereditary	8
1437	P	VRC007	Varicella, Severe Recurrent	8
1438	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
1439		NRP069	Neuro-Ophthalmological Disease	8
1440	c	SPS040	Spastic Paraplegia 5b	7
1441		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	7
1442		PRG012	Progressive Peripheral Pterygium	7
1443		INF115	Infectious Epithelial Keratitis	7
1444	P	DSR041	Disorder of Multiple Glycosylation	7
1445	c	ATS439	Autosomal Ichthyosis Syndrome	7
1446		ODN003	O Donnell Pappas Syndrome	7
1447		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	7
1448	c	ATS273	Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy	7
1449		CNG355	Congenital Eyelid Retraction	7
1450		RRD062	Rare Disorder with Lens Opacification	7
1451		LYM055	Lyme Disease - Neurological Complications	6
1452	P	ATS271	Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy	6
1453	c	SPS172	Spastic Ataxia 7	6
1454		CNJ008	Conjunctival Concretion	6
1455	c	MCR283	Microcephaly and Chorioretinopathy 2	6
1456		GRY003	Grayson-Wilbrandt Corneal Dystrophy	6
1457		ECS003	Eec Syndrome and Related Disorders	6
1458	c	SCN004	Secondary Vitreoretinal Degeneration	6
1459		SYN148	Syndromic Aniridia	5
1460		SYN152	Syndromic Keratoconus	5
1461	c	ATS348	Autosomal Dominant Intellectual Disability 30	5
1462	c	PRM303	Primary Early-Onset Glaucoma	5
1463	c	SCN083	Secondary Early-Onset Glaucoma	5
1464	c	MCR284	Microcephaly and Chorioretinopathy 3	5
1465		C12001	C12orf65-Related Combined Oxidative Phosphorylation Defect	5
1466		CNG533	Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome	5
1467		ACT252	Acute Disseminated Encephalomyelitis with Anti-Mog Antibodies	5
1468	c	RRD060	Rare Disorder of the Lacrimal Apparatus	5
1469	c	TTL014	Total Autosomal Monosomy	5
1470		NLX005	Neu-Laxova Syndrome Due to Phosphoserine Aminotransferase Deficiency	5
1471		SPR148	Supranuclear Eye Movement Disorder	5
1472		SCR032	Scarring in Glaucoma Filtration Surgical Procedures	4
1473		RRP026	Rare Palpebral Disorder	4
1474		CNG597	Congenital Malformation of the Eyelid	4
1475		ISL130	Isolated Congenital Entropion	4
1476		ISL071	Isolated Congenital Ectropion	4
1477		RRD059	Rare Disorder with Conjunctival Involvement As a Major Feature	4
1478		SYN147	Syndromic Ankyloblepharon Filiforme Adnatum	4
1479	c	RRL005	Rare Lens Disease	4
1480		RRR012	Rare Refraction Anomaly	4
1481	c	RRD064	Rare Disorder with Strabismus	4
1482	c	DDX001	Ddx3x-Related Intellectual Disability	4
1483	c	GLC029	Glaucoma Type 1c	4
1484	c	GLC033	Glaucoma, Hereditary Adult Type 1a	4
1485	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	4
1486	c	GLC035	Glaucoma, Primary Infantile Type 3a	4
1487	c	FRG004	Fragile X Syndrome Type 1	4
1488	c	SYS075	Systemic Diseases with Panuveitis	4
1489	c	RRN016	Rare Inflammatory/autoimmune Corneal Disorder	4
1490	c	MCR059	Microcephaly with Chorioretinopathy, Autosomal Dominant Form	4
1491		PRN060	Paraneoplastic Uveitis	4
1492	P	RRD036	Rare Idiopathic Macular Telangiectasia	4
1493		SYN125	Syndromic Vitreoretinopathy	4
1494		EYL007	Eyelid Border Anomaly	4
1495		SYN154	Syndromic Disorder with Strabismus	4
1496		ISL127	Isolated Blepharochalasis	3
1497		RRC024	Rare Ocular Motility/alignment Disorder	3
1498		RRC025	Rare Choroidal Disorder	3
1499		SYN130	Syndromic Lacrimal System Disorder	3
1500		ANT090	Anterior Segment Developmental Abnormality with Extraocular Manifestations	3
1501		SYN145	Syndromic Epicanthus	3
1502		RNL124	Renal Disease with Cataract	3
1503		RRD063	Rare Disease with Glaucoma As a Major Feature	3
1504		ANT094	Anterior Segment Developmental Anomaly Without Extraocular Manifestations	3
1505	c	ISL143	Isolated Progressive Inherited Retinal Disorder	3
1506		ISL144	Isolated Vitreoretinopathy	3
1507		ISL146	Isolated Chorioretinal Dystrophy	3
1508	P	ISL148	Isolated Inherited Retinal Disorder	3
1509		CHR694	Chromosomal Anomaly with Cataract	3
1510		NSC005	Nescav Syndrome	40
1511		KNS001	Kniest Dysplasia	50
1512		NRD057	Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects	31
1513		PHC018	Phace Association	37
1514		ONC002	Onchocerciasis	50
1515		BLL003	Bell's Palsy	48
1516	P	MLN008	Melanoma	75
1517	c	PRD013	Periodic Fever, Familial, Autosomal Dominant	67
1518		PBL005	Piebald Trait	60
1519	P	CNT005	Central Nervous System Lymphoma	51
1520	c	PRM226	Primary Central Nervous System Lymphoma	47
1521	c	HRD223	Hereditary Melanoma	38
1522		MYP086	Myopathy with Extrapyramidal Signs	38
1523		FLP001	Filippi Syndrome	37
1524	P	STR001	Striatonigral Degeneration	37
1525	c	STR085	Striatonigral Degeneration, Infantile	34
1526	P	HRD214	Hereditary Periodic Fever Syndrome	31
1527		DWR021	Dwarfism, Mental Retardation, and Eye Abnormality	12
1528		IMM028	Immune-Mediated Encephalomyelitis	10
1529		RTN010	Retinal Melanoma	9
1530	c	NRF024	Neurofibromatosis, Type I	76
1531		VNH007	Von Hippel-Lindau Syndrome	72
1532	P	ATS364	Autism	72
1533	c	ATS007	Autism Spectrum Disorder	71
1534	P	SRC025	Sarcoidosis 1	70
1535	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	70
1536		CTN028	Cutaneous Telangiectasia and Cancer Syndrome, Familial	70
1537	P	SZR006	Seizure Disorder	69
1538	P	TYS001	Tay-Sachs Disease	69
1539	P	SPR120	Supranuclear Palsy, Progressive, 1	68
1540	c	MCP052	Mucopolysaccharidosis, Type Vi	67
1541		LBR036	Leber Plus Disease	67
1542	P	RTH006	Rothmund-Thomson Syndrome, Type 2	67
1543		HRL003	Hurler Syndrome	66
1544		YMN001	Yemenite Deaf-Blind Hypopigmentation Syndrome	66
1545	c	ATS013	Autosomal Recessive Congenital Ichthyosis	66
1546		CNC002	Cinca Syndrome	65
1547	P	LYS001	Loeys-Dietz Syndrome	65
1548		ALS001	Alstrom Syndrome	65
1549	P	CTS001	Cutis Laxa	64
1550		CRZ001	Crouzon Syndrome	64
1551	P	DYS154	Dystonia	64
1552		GRG001	Greig Cephalopolysyndactyly Syndrome	64
1553		FCL009	Focal Dermal Hypoplasia	63
1554		INT323	Intraocular Pressure Quantitative Trait Locus	63
1555	c	NMN013	Niemann-Pick Disease, Type a	63
1556	P	DNT020	Dent Disease 1	63
1557	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	63
1558	c	HYP794	Hyperoxaluria, Primary, Type I	63
1559	c	OPT053	Optic Atrophy 1	62
1560	c	MCL046	Mucolipidosis Iii Alpha/beta	61
1561	P	WLF004	Wolfram Syndrome	61
1562	c	GLC092	Glaucoma, Primary Open Angle	60
1563		WLL001	Williams-Beuren Syndrome	60
1564		RTN017	Retinal Detachment	60
1565	c	USH036	Usher Syndrome, Type I	60
1566	P	MCR010	Microcephaly	59
1567		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	58
1568		HRL004	Hurler-Scheie Syndrome	58
1569	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	58
1570	c	ALB021	Albinism, Oculocutaneous, Type Ii	58
1571	P	RBL001	Rubella	58
1572	c	SPN309	Spinocerebellar Ataxia 6	58
1573		GYR004	Gyrate Atrophy of Choroid and Retina	58
1574	P	OPT009	Optic Neuritis	57
1575	P	OPT006	Optic Nerve Disease	57
1576	c	CCK007	Cockayne Syndrome B	56
1577	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	56
1578	P	CNG010	Congenital Stationary Night Blindness	56
1579	c	MCR241	Microphthalmia, Syndromic 3	56
1580		KFM001	Kaufman Oculocerebrofacial Syndrome	55
1581	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	55
1582	P	WLL002	Weill-Marchesani Syndrome	55
1583	P	NRC002	Narcolepsy	55
1584	c	ORF034	Orofaciodigital Syndrome Vi	55
1585		PTS001	Patau Syndrome	55
1586		GLC012	Galactosialidosis	55
1587	P	NLX004	Neu-Laxova Syndrome 1	55
1588	c	HNT010	Huntington Disease-Like 1	54
1589		KRT002	Keratomalacia	54
1590	c	CRD184	Ceroid Lipofuscinosis, Neuronal, 5	54
1591	P	PSD015	Pseudohypoparathyroidism	54
1592		PPL025	Popliteal Pterygium Syndrome	54
1593		IRD001	Iridocyclitis	54
1594	c	MCR240	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	54
1595	c	MYS051	Myasthenic Syndrome, Congenital, 5	53
1596		WLM014	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome	53
1597		KRT006	Keratoconjunctivitis	53
1598		SJG002	Sjogren-Larsson Syndrome	53
1599	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	53
1600	P	CRB101	Cerebrooculofacioskeletal Syndrome 1	53
1601	c	JBR018	Joubert Syndrome 4	53
1602	P	RTN018	Retinal Disease	53
1603	c	CTS045	Cutis Laxa, Autosomal Dominant 1	52
1604	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	52
1605	c	OST131	Osteopetrosis, Autosomal Dominant 2	52
1606	c	GRS014	Griscelli Syndrome, Type 2	52
1607	P	NNN037	Noonan Syndrome-Like Disorder with Loose Anagen Hair	51
1608	c	USH035	Usher Syndrome Type 2	51
1609	c	EPD076	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	51
1610	P	CNG436	Congenital Disorder of Deglycosylation	51
1611	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	51
1612		TRC010	Trichotillomania	51
1613	c	ALB025	Albinism, Ocular, with Late-Onset Sensorineural Deafness	50
1614		CHR078	Chorioretinitis	50
1615	c	OST136	Osteopetrosis, Autosomal Recessive 7	50
1616	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	50
1617		BRN071	Brain Injury	50
1618		CYT005	Cytomegalovirus Retinitis	50
1619	c	GM1005	Gm1-Gangliosidosis, Type Ii	50
1620	c	ATS393	Autosomal Recessive Cutis Laxa Type I	49
1621	c	BRD020	Bardet-Biedl Syndrome 8	49
1622	c	NNN028	Noonan Syndrome-Like Disorder with Loose Anagen Hair 1	49
1623	P	CRN025	Corneal Dystrophy	49
1624	c	CRN241	Corneal Dystrophy, Congenital Stromal	49
1625	P	CHR637	Choroidal Dystrophy, Central Areolar, 1	49
1626	P	OPT048	Opitz-Gbbb Syndrome	49
1627	c	NMN014	Niemann-Pick Disease, Type C2	49
1628		FRN020	Frontal Fibrosing Alopecia	48
1629	c	TYR013	Tyrosinemia, Type Ii	48
1630	c	JBR012	Joubert Syndrome 5	48
1631		CLB026	Colobomatous Microphthalmia	48
1632		BTT001	Bietti Crystalline Corneoretinal Dystrophy	48
1633	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	48
1634	c	MCR251	Microphthalmia, Syndromic 6	48
1635		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	48
1636		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	48
1637	c	BRD032	Bardet-Biedl Syndrome 14	47
1638		HLX001	Helix Syndrome	47
1639	P	CLR019	Color Blindness	47
1640		MGL003	Megalocornea	47
1641	P	OCL001	Ocular Albinism	47
1642	c	USH040	Usher Syndrome, Type Id	47
1643	c	NGH026	Night Blindness, Congenital Stationary, Type 1a	47
1644	c	NLX003	Neu-Laxova Syndrome 2	47
1645	P	RTN014	Retinal Artery Occlusion	46
1646	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	46
1647	c	JBR011	Joubert Syndrome 7	46
1648	c	CTS041	Cutis Laxa, Autosomal Dominant 3	46
1649	c	WRD031	Waardenburg Syndrome, Type 3	46
1650	c	HRM008	Hermansky-Pudlak Syndrome 5	46
1651	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	46
1652	c	MCK014	Meckel Syndrome, Type 5	46
1653	c	GM1006	Gm1-Gangliosidosis, Type Iii	46
1654	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	45
1655	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	45
1656		EPT021	Epithelial Recurrent Erosion Dystrophy	45
1657	c	NGH010	Night Blindness, Congenital Stationary, Autosomal Dominant 2	45
1658	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	45
1659	c	SZR007	Seizures, Benign Familial Infantile, 3	45
1660	c	RTN172	Retinitis Pigmentosa 1	45
1661	P	HRN001	Horner's Syndrome	45
1662	c	USH020	Usher Syndrome, Type Iic	45
1663	c	OST134	Osteopetrosis, Autosomal Recessive 6	45
1664	c	HYP575	Hypotrichosis 7	45
1665	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	44
1666		CRN045	Corneal Dystrophy and Perceptive Deafness	44
1667	c	NRC009	Narcolepsy 1	44
1668	c	RTN069	Retinitis Pigmentosa 7	44
1669	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	44
1670	P	GNG009	Gangliosidosis	44
1671	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	44
1672	P	OGC005	Oguchi Disease	44
1673	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	44
1674	c	ANT085	Anterior Segment Dysgenesis 5	44
1675	c	SRC023	Sarcoidosis 2	44
1676	c	HRM006	Hermansky-Pudlak Syndrome 3	43
1677	c	NNN027	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2	43
1678	c	MYS078	Myasthenic Syndrome, Congenital, 14	43
1679	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	43
1680	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	43
1681	c	CNG513	Congenital Ptosis	43
1682	c	EPD071	Epidermolysis Bullosa Dystrophica, Autosomal Dominant	43
1683	c	OST118	Osteogenesis Imperfecta, Type Viii	43
1684	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	43
1685	c	RTN058	Retinitis Pigmentosa 3	43
1686	c	JBR028	Joubert Syndrome 13	43
1687	c	WLF009	Wolfram Syndrome 2	43
1688	c	WRD024	Waardenburg Syndrome, Type 4c	42
1689	c	MYS070	Myasthenic Syndrome, Congenital, 19	42
1690	c	RTN066	Retinitis Pigmentosa 4	42
1691	c	OST106	Osteopetrosis, Autosomal Recessive 8	42
1692	c	PNT037	Pontocerebellar Hypoplasia, Type 3	42
1693		CHR492	Chromosome 13q14 Deletion Syndrome	42
1694		PHT008	Photosensitive Epilepsy	41
1695	c	ICH040	Ichthyosis, Congenital, Autosomal Recessive 4a	41
1696	c	XLN231	X-Linked Alport Syndrome	41
1697	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	41
1698		CRN237	Corneal Dystrophy, Avellino Type	41
1699	P	CLC057	Cole-Carpenter Syndrome	41
1700		SLW006	Saul-Wilson Syndrome	41
1701	c	LBR009	Leber Congenital Amaurosis 14	41
1702		VTR005	Vitreous Disease	41
1703	c	MSC111	Muscular Dystrophy-Dystroglycanopathy , Type C, 7	41
1704	c	CTS031	Cutis Laxa, Autosomal Dominant 2	41
1705	c	SPN104	Spinocerebellar Ataxia 34	41
1706	c	RTN130	Retinitis Pigmentosa 46	40
1707		WCK001	Wieacker-Wolff Syndrome	40
1708		SNL007	Senile Cataract	40
1709	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	40
1710	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	40
1711	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	40
1712		CRB086	Cerebral Aneurysms	40
1713	c	MCR124	Microphthalmia, Isolated 1	40
1714		LCR013	Lacrimal Duct Defect	40
1715		CHR382	Chromosome 18q Deletion Syndrome	40
1716		ANG062	Angioosteohypertrophic Syndrome	40
1717	c	MCR122	Microphthalmia, Isolated 5	39
1718	c	MCR312	Microphthalmia, Syndromic 10	39
1719	c	RTN062	Retinitis Pigmentosa 33	39
1720		PRM056	Primrose Syndrome	39
1721	c	RTN056	Retinitis Pigmentosa 28	39
1722	P	RRT020	Rare Tumor	39
1723		LGH012	Leigh Syndrome with Leukodystrophy	39
1724	c	DNT021	Dent Disease 2	39
1725	c	DNR003	Duane Retraction Syndrome 1	39
1726	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	39
1727		PRM024	Primary Angle-Closure Glaucoma	38
1728	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	38
1729	c	RTN085	Retinitis Pigmentosa 54	38
1730	c	PLM149	Palmoplantar Keratoderma and Congenital Alopecia 2	38
1731	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	38
1732	c	MYS076	Myasthenic Syndrome, Congenital, 8	38
1733	c	RTN052	Retinitis Pigmentosa 23	37
1734		CMB018	Combined Oxidative Phosphorylation Deficiency 7	37
1735	P	HRZ002	Horizontal Gaze Palsy with Progressive Scoliosis	37
1736	c	WRB005	Warburg Micro Syndrome 4	37
1737	c	DVL040	Developmental and Epileptic Encephalopathy 12	37
1738		CHR502	Chromosome 17q12 Duplication Syndrome	37
1739	c	ATS076	Autosomal Recessive Stickler Syndrome	37
1740	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	37
1741	c	DVL050	Developmental and Epileptic Encephalopathy 24	37
1742		OCL010	Ocular Hypotension	37
1743		RNG003	Ring Dermoid of Cornea	37
1744	c	RTH007	Rothmund-Thomson Syndrome, Type 1	37
1745		CRN247	Corneal Dystrophy, Thiel-Behnke Type	37
1746	c	SPS237	Spastic Paraplegia 30, Autosomal Dominant	37
1747	c	NGH027	Night Blindness, Congenital Stationary, Type 1c	36
1748	c	CTR141	Cataract 21, Multiple Types	36
1749	c	MYS067	Myasthenic Syndrome, Congenital, 22	36
1750	P	HRD217	Hereditary Optic Neuropathy	36
1751	c	NGH024	Night Blindness, Congenital Stationary, Type 1h	36
1752	c	CNR013	Cone-Rod Dystrophy 12	36
1753		NRT011	Neurotrophic Keratopathy	36
1754		MBM001	Meibomian Cyst	36
1755	c	NRC010	Narcolepsy 2	36
1756	c	RTN106	Retinitis Pigmentosa 51	36
1757		OCL048	Oculoauricular Syndrome	36
1758		ISL087	Isolated Oxycephaly	36
1759	c	JBR022	Joubert Syndrome 20	36
1760	c	CNR025	Cone-Rod Dystrophy 15	35
1761	c	HRM011	Hermansky-Pudlak Syndrome 8	35
1762	P	CNG024	Congenital Nystagmus	35
1763	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	35
1764		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	35
1765	c	RTN171	Retinitis Pigmentosa 59	35
1766	c	RTN036	Retinal Cone Dystrophy 4	35
1767	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	35
1768	c	JBR030	Joubert Syndrome 22	35
1769	c	CRB170	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2	35
1770		KRN001	Korean Hemorrhagic Fever	34
1771	c	RTN180	Retinitis Pigmentosa 74	34
1772	c	PRX051	Peroxisome Biogenesis Disorder 6a	34
1773	c	CNR030	Cone-Rod Dystrophy 20	34
1774	c	JBR037	Joubert Syndrome 26	34
1775	c	CTR095	Cataract 8, Multiple Types	34
1776	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	34
1777		TLS001	Tolosa-Hunt Syndrome	34
1778	c	OPT064	Optic Atrophy 11	34
1779		FML292	Familial Drusen	34
1780	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	34
1781	c	GLC041	Glaucoma 1, Open Angle, a	34
1782		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	34
1783	c	RTN059	Retinitis Pigmentosa 30	33
1784	c	GLC078	Glaucoma 1, Open Angle, F	33
1785	c	RTN134	Retinitis Pigmentosa 40	33
1786	c	ADM010	Adams-Oliver Syndrome 5	33
1787	c	SPN299	Spinocerebellar Ataxia 20	33
1788		NRP048	Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration	33
1789	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	33
1790	c	SPN095	Spinocerebellar Ataxia 19	33
1791	c	CRB100	Cerebrooculofacioskeletal Syndrome 4	33
1792	c	ATX033	Ataxia-Oculomotor Apraxia 4	33
1793	c	WLL040	Weill-Marchesani Syndrome 4	33
1794	c	ICH045	Ichthyosis, Congenital, Autosomal Recessive 7	33
1795		3MC002	3mc Syndrome 1	33
1796	c	CNR017	Cone-Rod Dystrophy 9	33
1797	c	ICH050	Ichthyosis, Congenital, Autosomal Recessive 5	32
1798		SPN348	Spondylometaphyseal Dysplasia, Axial	32
1799	c	RTN140	Retinitis Pigmentosa 67	32
1800	c	CRN134	Cornelia De Lange Syndrome 2	32
1801	P	SCL047	Sclerocornea	32
1802	c	OST169	Osteogenesis Imperfecta, Type Xviii	32
1803	c	OPT023	Optic Atrophy 2	31
1804	c	NYS003	Nystagmus 2, Congenital, Autosomal Dominant	31
1805		EPP022	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	31
1806	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	31
1807	c	MYS065	Myasthenic Syndrome, Congenital, 18	31
1808	c	JVN038	Juvenile Myasthenia Gravis	31
1809	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	31
1810	c	PSD104	Pseudohypoparathyroidism, Type Ii	31
1811	c	ORF036	Orofaciodigital Syndrome Xiv	31
1812	c	CRB098	Cerebrooculofacioskeletal Syndrome 2	30
1813	c	SPS025	Spastic Paraplegia 15	30
1814	c	FRD006	Friedreich Ataxia 2	30
1815	c	EXD010	Exudative Vitreoretinopathy 6	30
1816	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	30
1817	c	HYP864	Hypoparathyroidism, Familial Isolated, 1	30
1818	c	RTN190	Retinitis Pigmentosa 76	30
1819	c	MYS077	Myasthenic Syndrome, Congenital, 15	30
1820	c	ICH023	Ichthyosis, Acquired	30
1821	c	CCK004	Cockayne Syndrome Type Iii	30
1822		3MC004	3mc Syndrome 3	30
1823	c	CTR175	Cataract 24	30
1824		CNJ001	Conjugate Gaze Palsy	30
1825		TBL025	Tubulointerstitial Nephritis with Uveitis	30
1826	c	ATM100	Autoimmune Optic Neuritis	29
1827	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	29
1828	c	RTN149	Retinitis Pigmentosa 42	29
1829	c	CWD008	Cowden Syndrome 6	29
1830	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	29
1831		CHR270	Chromosome 9p Duplication	29
1832	c	SZR020	Seizures, Benign Familial Infantile, 5	29
1833	P	NNT006	Neonatal Myasthenia Gravis	29
1834	P	RTN034	Retinal Cone Dystrophy 3a	29
1835		LKN017	Leukoencephalopathy with Ataxia	28
1836		CRN128	Corneal Dystrophy, Endothelial, X-Linked	28
1837		MD1003	Med13l Haploinsufficiency Syndrome	28
1838	c	SPS091	Spastic Paraplegia 4	28
1839	c	INH030	Inherited Retinal Disorder	28
1840	c	DNR004	Duane Retraction Syndrome 2	28
1841	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	28
1842	c	MCL077	Macular Degeneration, Age-Related, 5	28
1843	c	RTN213	Retinitis Pigmentosa 80	28
1844		ACT120	Acute Zonal Occult Outer Retinopathy	28
1845	c	MCL070	Macular Dystrophy, Patterned, 3	28
1846	c	MCR212	Microphthalmia, Syndromic 12	28
1847	c	SPS062	Spastic Paraplegia 34, X-Linked	28
1848	c	NYS016	Nystagmus 7, Congenital, Autosomal Dominant	27
1849	c	ATS173	Autism 18	27
1850		PLY050	Polymicrogyria with Optic Nerve Hypoplasia	27
1851	c	FRN032	Frontonasal Dysplasia 3	27
1852		IMM002	Immature Cataract	27
1853	c	CRN120	Corneal Dystrophy, Fuchs Endothelial, 3	27
1854		MCR315	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	27
1855		MNT308	Mental Retardation with Optic Atrophy, Deafness, and Seizures	27
1856	c	SPN286	Spinocerebellar Ataxia 40	27
1857		MCL018	Macular Dystrophy, Concentric Annular	27
1858	P	CNR040	Cone-Rod Dystrophy and Hearing Loss 1	27
1859		PLL004	Pallister W Syndrome	27
1860	c	FVL008	Foveal Hypoplasia 2	27
1861	P	MCL035	Macular Dystrophy, Retinal, 2	26
1862	c	DVL115	Developmental and Epileptic Encephalopathy 92	26
1863		MGL033	Megalocornea-Mental Retardation Syndrome	26
1864	c	NGH028	Night Blindness, Congenital Stationary, Type 1d	26
1865	c	SLV029	Silver-Russell Syndrome 2	26
1866		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	26
1867		SHS001	Shashi-Pena Syndrome	26
1868		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	26
1869	c	DVL101	Developmental and Epileptic Encephalopathy 78	26
1870		IRD003	Iridocorneal Endothelial Syndrome	26
1871		MCR067	Microcoria, Congenital	26
1872		OCL030	Oculoauriculofrontonasal Syndrome	26
1873	c	CTR125	Cataract 7	26
1874	c	PRX056	Peroxisome Biogenesis Disorder 11b	26
1875	c	NGH030	Night Blindness, Congenital Stationary, Type 1f	26
1876		DYS187	Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities	26
1877	c	DVL068	Developmental and Epileptic Encephalopathy 43	26
1878		CHR284	Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids	25
1879	c	SZR016	Seizures, Benign Familial Infantile, 2	25
1880		VSL005	Visual Pathway Disease	25
1881	c	MCK026	Meckel Syndrome 12	25
1882	c	DVL107	Developmental and Epileptic Encephalopathy 84	25
1883	c	LNR016	Linear Skin Defects with Multiple Congenital Anomalies 2	25
1884	c	ACQ027	Acquired Cutis Laxa	25
1885	c	CTR165	Cataract 19, Multiple Types	25
1886		RTN232	Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome	25
1887	c	CRN280	Cornea Plana 2, Autosomal Recessive	25
1888	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	25
1889	c	SZR014	Seizures, Benign Familial Infantile, 1	25
1890		CHS002	Chiasmal Syndrome	25
1891	c	MNS008	Monosomy 21	25
1892	c	DVL070	Developmental and Epileptic Encephalopathy 45	25
1893		EXT029	Extraocular Retinoblastoma	25
1894		CHR252	Chromosome 5p Duplication	24
1895	c	ALP109	Alopecia-Mental Retardation Syndrome 4	24
1896		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	24
1897	c	DVL112	Developmental and Epileptic Encephalopathy 89	24
1898		PRP102	Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development	24
1899	c	OPT080	Optic Atrophy 12	24
1900	c	SLV031	Silver-Russell Syndrome 5	24
1901	c	PX6002	Pax6-Related Aniridia	24
1902		CMB076	Combined Oxidative Phosphorylation Deficiency 31	24
1903	c	SNR016	Senior-Loken Syndrome 9	24
1904	c	MCR331	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	24
1905	P	OCL062	Ocular Albinism with Congenital Sensorineural Deafness	24
1906	c	ATS370	Autism 3	24
1907	c	CRN143	Corneal Dystrophy, Fuchs Endothelial, 4	24
1908	c	RTN032	Retinal Cone Dystrophy 1	24
1909	c	RTN234	Retinitis Pigmentosa 90	24
1910	c	ADM012	Adams-Oliver Syndrome 6	24
1911	c	EFM001	Efemp2-Related Cutis Laxa	23
1912		PRT091	Partial Cryptophthalmia	23
1913	c	DVL085	Developmental and Epileptic Encephalopathy 61	23
1914		OCL070	Oculopalatocerebral Syndrome	23
1915	c	ERL012	Early-Onset Glaucoma	23
1916	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	23
1917	c	LTB003	Ltbp4-Related Cutis Laxa	23
1918	c	ATS376	Autism 15	23
1919		CTR107	Cataract 13 with Adult I Phenotype	23
1920		HYP346	Hypotrichosis and Recurrent Skin Vesicles	23
1921		NRD031	Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination	23
1922	c	GLC079	Glaucoma 1, Open Angle, P	23
1923	c	ALP076	Alopecia-Mental Retardation Syndrome 1	23
1924	c	GLL047	Galloway-Mowat Syndrome 8	23
1925		IRV001	Irvan Syndrome	23
1926		NRD062	Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction	22
1927	c	ATS451	Autosomal Recessive Cutis Laxa Type 2	22
1928		MNT254	Mental Retardation Syndrome, Mietens-Weber Type	22
1929	c	CTR169	Cataract 29	22
1930		NRD096	Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures	22
1931	c	ICH072	Ichthyosis, Congenital, Autosomal Recessive 14	22
1932		CTR188	Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy	22
1933	c	NRC017	Narcolepsy 7	22
1934	c	MSC188	Muscular Dystrophy-Dystroglycanopathy , Type C, 8	22
1935		PRG116	Progressive Supranuclear Palsy-Corticobasal Syndrome	22
1936		RTN216	Retinitis Pigmentosa 82 with or Without Situs Inversus	21
1937	c	ATS474	Autism 20	21
1938	c	ATS378	Autism 17	21
1939	P	RBN007	Rubinstein Taybi Like Syndrome	21
1940		SPN356	Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia	21
1941	c	MCL073	Macular Dystrophy, Vitelliform, 1	21
1942	c	ATS369	Autism 8	21
1943	c	ATS371	Autism 6	21
1944		NTH002	Nathalie Syndrome	21
1945	c	TRC126	Treacher Collins Syndrome 4	21
1946		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	21
1947		SZR029	Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications	21
1948		LNS008	Lens Position Anomaly	21
1949	c	SNR011	Senior-Loken Syndrome 3	20
1950	c	ACQ002	Acquired Night Blindness	20
1951	c	CWD005	Cowden Syndrome 4	20
1952	c	ATS377	Autism 16	20
1953	c	HYP867	Hypoparathyroidism, Familial Isolated, 2	20
1954		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	20
1955	c	RTN218	Retinitis Pigmentosa 84	20
1956		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	20
1957		CHR397	Chromosome Xp11.3 Deletion Syndrome	20
1958		LYM123	Lymphedema-Hypoparathyroidism Syndrome	20
1959		ORB020	Orbital Lymphoma	20
1960		RTH002	Rutherfurd Syndrome	20
1961	c	SPR049	Supranuclear Palsy, Progressive, 2	20
1962	c	PTS018	Ptosis, Hereditary Congenital 1	19
1963	c	CRN068	Corneal Endothelial Dystrophy Type 2	19
1964	c	INH022	Inherited Ichthyosis	19
1965		ALG025	Alg1-Congenital Disorder of Glycosylation	19
1966	c	MNT181	Mental Retardation, Autosomal Recessive 35	19
1967		MNS002	Mini Stroke	19
1968		SPN117	Spinocerebellar Degeneration and Corneal Dystrophy	19
1969		MCR052	Microcephaly Microcornea Syndrome Seemanova Type	19
1970	c	GLC060	Glaucoma 1, Open Angle, G	19
1971	P	ALP110	Alopecia-Mental Retardation Syndrome	19
1972	P	DFN296	Deafness-Onychodystrophy Syndrome	19
1973	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	18
1974	c	RTN219	Retinitis Pigmentosa 85	18
1975	c	GLC099	Glaucoma 1, Primary Open Angle, C	18
1976		NSL017	Nasolacrimal Duct Cyst	18
1977	c	ALP075	Alopecia-Mental Retardation Syndrome 2	18
1978		GMS002	Gms Syndrome	18
1979	c	DYS212	Dystonia 30	18
1980	c	USH046	Usher Syndrome, Type 1m	18
1981	c	SRC024	Sarcoidosis 3	17
1982	c	NRC011	Narcolepsy 3	17
1983		RDR002	Rodrigues Blindness	17
1984		IGG009	Igg4-Related Ophthalmic Disease	17
1985	c	ATS171	Autism 9	17
1986	c	ATS172	Autism 10	17
1987		ATS326	Autosomal Recessive Isolated Optic Atrophy	17
1988	c	SPS034	Spastic Paraplegia 26	17
1989	c	ATS170	Autism 19	17
1990	c	MYP133	Myopia 18, Autosomal Recessive	17
1991		MNT255	Mental Retardation and Psoriasis	16
1992	c	CNG618	Congenital Nystagmus 1	16
1993	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	16
1994	c	MYP041	Myopia 8	16
1995	c	ATS372	Autism 7	16
1996		EPB002	Epiblepharon	16
1997		CTR154	Cataract, Aberrant Oral Frenula, and Growth Retardation	16
1998		SPS194	Spastic Paresis, Glaucoma, and Mental Retardation	16
1999		CHR580	Choroid Plexus Calcification and Mental Retardation	16
2000	c	MYP069	Myopia 14	16
2001	c	ATS374	Autism 12	16
2002	c	ALP063	Alopecia-Mental Retardation Syndrome 3	16
2003		MCR300	Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	16
2004		CNG067	Congenital Cystic Eye	16
2005		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	15
2006	c	MYP143	Myopia 11, Autosomal Dominant	15
2007	c	MNT162	Mental Retardation, Autosomal Recessive 24	15
2008	c	ATS373	Autism 11	15
2009		8Q1001	8q12 Microduplication Syndrome	15
2010		CHM001	Cahmr Syndrome	15
2011		MCR242	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	15
2012	c	PTS010	Ptosis, Hereditary Congenital 2	15
2013	c	MNT163	Mental Retardation, Autosomal Recessive 30	15
2014	c	ATS375	Autism 13	15
2015	c	NRC012	Narcolepsy 4	15
2016	c	FRM005	Frmd7-Related Infantile Nystagmus	15
2017	c	CHR665	Choroidal Dystrophy, Central Areolar, 3	15
2018	c	GLC103	Glaucoma 1, Open Angle, K	15
2019		CHR675	Chronic Relapsing Inflammatory Optic Neuropathy	15
2020	c	NRC018	Narcolepsy 6	14
2021		SPS195	Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation	14
2022	c	MNT182	Mental Retardation, Autosomal Recessive 19	14
2023	c	SX2003	Six2-Related Frontonasal Dysplasia	14
2024		VNB001	Van Benthem-Driessen-Hanveld Syndrome