Neuronal Diseases Category (7905 diseases)

Including: Nervous, Brain, Spinal, Mental, Intellectual
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		NRS003	Neurosyphilis	48
2	c	NNS073	Non-Syndromic X-Linked Intellectual Disability 2	18
3	c	NNS117	Non-Syndromic X-Linked Intellectual Disability Arx-Related	17
4	c	NNS086	Non-Syndromic X-Linked Intellectual Disability 91	16
5	c	NNS090	Non-Syndromic X-Linked Intellectual Disability 82	14
6	c	NNS085	Non-Syndromic X-Linked Intellectual Disability 90	13
7	c	NNS076	Non-Syndromic X-Linked Intellectual Disability 58	13
8	c	NNS094	Non-Syndromic X-Linked Intellectual Disability 72	13
9	c	NNS080	Non-Syndromic X-Linked Intellectual Disability 89	13
10	c	NNS077	Non-Syndromic X-Linked Intellectual Disability 14	13
11	c	NNS081	Non-Syndromic X-Linked Intellectual Disability 81	11
12	c	NNS084	Non-Syndromic X-Linked Intellectual Disability 77	10
13	c	NNS092	Non-Syndromic X-Linked Intellectual Disability 46	10
14	c	NNS074	Non-Syndromic X-Linked Intellectual Disability 19	9
15	c	NNS078	Non-Syndromic X-Linked Intellectual Disability 45	9
16	c	NNS075	Non-Syndromic X-Linked Intellectual Disability 20	8
17	c	NNS079	Non-Syndromic X-Linked Intellectual Disability 84	6
18	c	NNS091	Non-Syndromic X-Linked Intellectual Disability 88	6
19		NRT001	Neurotic Disorder	57
20		NRF026	Neurofibromatosis, Type Iv, of Riccardi	26
21		BLM002	Bulimia Nervosa	58
22		MRS009	Marsili Syndrome	43
23	c	NRP067	Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy	30
24		MLN001	Melanotic Neuroectodermal Tumor	27
25		NRD085	Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures	24
26	c	NRN050	Neuronopathy, Distal Hereditary Motor, Type Vc	29
27		NRD118	Neurodevelopmental Disorder with or Without Autism or Seizures	24
28		ANR007	Anorexia Nervosa	61
29		CHR696	Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia	28
30	c	SPT021	Sptlc1-Related Hereditary Sensory Neuropathy	15
31		OBS002	Obsessive-Compulsive Disorder	67
32		LGS001	Legius Syndrome	58
33		RCT005	Rectum Neuroendocrine Neoplasm	36
34		LRY013	Laryngeal Neuroendocrine Tumor	32
35		DVL031	Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects	28
36		SZR029	Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications	22
37		NRD095	Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities	21
38		LWG004	Low-Grade Neuroendocrine Tumor of the Corpus Uteri	7
39	c	CNT122	Central Diabetes Insipidus	56
40	P	DBT005	Diabetes Insipidus	55
41	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	54
42		ATX010	Ataxia Neuropathy Spectrum	30
43		NRD067	Neurodevelopmental Disorder with or Without Variable Brain Abnormalities	25
44		NRD105	Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities	24
45		ANL010	Anal Neuroendocrine Tumor	18
46		CHL005	Childhood Mediastinal Neurogenic Tumor	6
47		DBT087	Diabetes Insipidus, Neurohypophyseal	57
48		AMY086	Amyotrophy, Hereditary Neuralgic	46
49		CNV002	Conversion Disorder	45
50		BRN139	Brain Small Vessel Disease 1 with or Without Ocular Anomalies	38
51		HRT037	Heart and Brain Malformation Syndrome	31
52	P	NRD034	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant	30
53	c	NRP068	Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy	21
54	P	GNT049	Giant Axonal Neuropathy 1, Autosomal Recessive	57
55		ERY029	Erythermalgia, Primary	48
56		NSC005	Nescav Syndrome	45
57		DPR002	Depersonalization Disorder	40
58	c	GNT040	Giant Axonal Neuropathy 2, Autosomal Dominant	22
59	P	NRB001	Neuroblastoma	62
60		DSS008	Disease of Mental Health	53
61	c	NRB010	Neuroblastoma 1	41
62		NRG003	Neurogenic Arthropathy	41
63	c	3MT025	3-Methylglutaconic Aciduria, Type Viib	35
64		NRN016	Neuronal Migration Disorders	34
65		SYN175	Syndromic X-Linked Intellectual Disability Lubs Type	34
66		LNG002	Lung Combined Large Cell Neuroendocrine Carcinoma	34
67	P	CRB059	Cerebellar Degeneration	32
68	c	NRB015	Neuroblastoma 2	32
69	c	PRM015	Primary Cerebellar Degeneration	30
70		ESP009	Esophageal Neuroendocrine Tumor	30
71		BRN049	Brain Tumor, Childhood	28
72		HLP033	Halperin-Birk Syndrome	23
73		NRD145	Neurodevelopmental Disorder, Nonprogressive, with Spasticity and Transient Opisthotonus	23
74	c	CHR725	Charcot-Marie-Tooth Disease, Demyelinating, Type 1h	23
75		SYN083	Syndromic X-Linked Intellectual Disability Shashi Type	19
76		NRF025	Neurofibromatosis, Type Iii, Mixed Central and Peripheral	18
77	c	SBC039	Subacute Cerebellar Degeneration	17
78	c	LPD015	Lipodystrophy, Familial Partial, Type 2	63
79	P	FML012	Familial Partial Lipodystrophy	54
80		MNN028	Mononeuropathy of the Median Nerve, Mild	53
81	c	LPD021	Lipodystrophy, Familial Partial, Type 3	52
82	c	LPD034	Lipodystrophy, Familial Partial, Type 4	44
83	c	LPD019	Lipodystrophy, Partial, Acquired	44
84	P	HYP888	Hyperphosphatasia with Impaired Intellectual Development Syndrome 1	41
85	c	LPD036	Lipodystrophy, Familial Partial, Type 6	40
86	c	LPD040	Lipodystrophy, Familial Partial, Type 1	39
87	c	TRC101	Trichothiodystrophy 4, Nonphotosensitive	37
88	c	TRC125	Trichothiodystrophy 7, Nonphotosensitive	36
89	c	LPD030	Lipodystrophy, Familial Partial, Type 5	36
90		NRD108	Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities	32
91	c	TRC117	Trichothiodystrophy 6, Nonphotosensitive	30
92	c	NRP065	Neuropathy, Congenital Hypomyelinating, 3	28
93	c	CRB136	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2	28
94	c	LPD044	Lipodystrophy, Familial Partial, Type 7	27
95		NRD049	Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures	26
96	c	AKT001	Akt2-Related Familial Partial Lipodystrophy	16
97		WRN002	Wernicke-Korsakoff Syndrome	51
98		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	49
99		ABC001	Abcd Syndrome	39
100	c	NRP064	Neuropathy, Congenital Hypomyelinating, 2	36
101		BRN142	Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis	29
102	c	NRB014	Neuroblastoma 3	28
103		PRM183	Primary Aldosteronism, Seizures, and Neurologic Abnormalities	28
104		46X083	46,xy Gonadal Dysgenesis with Minifascicular Neuropathy	28
105		ART164	Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect	26
106		NRD115	Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities	25
107	c	CRB195	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3	24
108	c	CRB141	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4	24
109		NRD061	Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities	24
110		NRD040	Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter	23
111		NRD136	Neurodevelopmental Disorder with Seizures and Brain Abnormalities	20
112		ALP091	Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	19
113		NRN023	Neuroendocrine Cell Hyperplasia of Infancy	19
114		NRD111	Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy	19
115		KRK002	Karak Syndrome	18
116		CNG458	Congenital Abducens Nerve Palsy	9
117		PRM283	Primitive Neuroectodermal Tumor of the Corpus Uteri	7
118	c	CFF010	Coffin-Siris Syndrome 3	38
119		KSK002	Kosaki Overgrowth Syndrome	36
120		NRD038	Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy	34
121		NRT011	Neurotrophic Keratopathy	33
122		AMY005	Amyloid Neuropathy	30
123		NRD059	Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy	28
124		NRD081	Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies	27
125		NRD099	Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity	25
126		NRD092	Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis	24
127		NRD073	Neurodevelopmental Disorder with Visual Defects and Brain Anomalies	24
128		NRD135	Neurodevelopmental Disorder with Hypotonia and Brain Abnormalities	24
129		MYS083	Myasthenic Syndrome, Congenital, 7a, Presynaptic, and Distal Motor Neuropathy, Autosomal Dominant	23
130		CHR639	Chromosome Xp11.22 Duplication Syndrome	23
131		NRD112	Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities	23
132	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	22
133		INT391	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy	22
134		ECT113	Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies	22
135		HNG004	Hengel-Maroofian-Schols Syndrome	21
136	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	21
137		NRD113	Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities	21
138		NRD042	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy	21
139	c	NNS089	Non-Syndromic X-Linked Intellectual Disability 30	21
140		DVL130	Developmental Delay with Variable Neurologic and Brain Abnormalities	21
141		END088	Endove Syndrome, Limb-Brain Type	20
142		NRD110	Neurodevelopmental Disorder with Seizures and Brain Atrophy	19
143	c	NRN053	Neuronopathy, Distal Hereditary Motor, Type X	12
144		BNP001	Bone Peripheral Neuroepithelioma	12
145		MNT257	Mental Retardation, X-Linked, with Craniofacial Dysmorphism	11
146		SYN081	Syndromic X-Linked Intellectual Disability Abidi Type	9
147		CLS051	Classic Neuroendocrine Tumor of Appendix	7
148		SPN020	Spondylosis	49
149		MTB008	Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration	44
150	c	SPN430	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1	37
151		KHR001	Kahrizi Syndrome	34
152		ALC002	Alcohol-Related Neurodevelopmental Disorder	32
153		EPL206	Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions	31
154	c	HYP891	Hyperphosphatasia with Impaired Intellectual Development Syndrome 4	30
155		NRD057	Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects	30
156		EMB015	Embryonal Tumor with Multilayered Rosettes	29
157		NRF016	Neurofibromatosis, Familial Spinal	28
158		NRD023	Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language	27
159		NRD051	Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness	27
160		PRF003	Piriformis Syndrome	26
161		GNT184	Genitourinary and/or Brain Malformation Syndrome	26
162	c	SPN432	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3	25
163		NRD107	Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia	25
164		MGR035	Migraine with Brainstem Aura	25
165		CHR655	Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive	24
166	c	CHR724	Charcot-Marie-Tooth Disease, Demyelinating, Type 1i	24
167		ENC050	Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities	24
168		NRD093	Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy	24
169		ART166	Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum	24
170	c	NNS112	Non-Syndromic X-Linked Intellectual Disability 21	24
171		NRD089	Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies	23
172	c	NRD041	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive	23
173		NRD123	Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia	22
174		NRD166	Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities	21
175		NRD070	Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies	20
176		NRD160	Neurodevelopmental Disorder with Epilepsy and Brain Atrophy	19
177	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	19
178		NRD164	Neurodevelopmental Disorder with Spasticity, Seizures, and Brain Abnormalities	19
179		NRD161	Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy	18
180		SBN004	Sabinas Brittle Hair Syndrome	16
181		NRD173	Neurodevelopmental Disorder with Dysmorphic Facies and Skeletal and Brain Abnormalities	16
182		KFF001	Kifafa Seizure Disorder	15
183		PCH018	Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts	15
184		MDS014	Mediastinum Neuroblastoma	5
185	P	ART005	Arteriovenous Malformation	65
186	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	59
187		DSN001	De Sanctis-Cacchione Syndrome	50
188		HYP265	Hypotonia	46
189	c	CFF009	Coffin-Siris Syndrome 4	43
190	P	CHR342	Chiari Malformation	42
191	P	GLY112	Glycosylphosphatidylinositol Biosynthesis Defect 1	39
192		MLT178	Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	38
193	c	CFF007	Coffin-Siris Syndrome 2	38
194		HYD065	Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies	34
195	c	CFF014	Coffin-Siris Syndrome 9	33
196		DVL111	Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy	28
197		IMP020	Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects	28
198	c	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	27
199		ILL008	Ileal Neuroendocrine Tumor	27
200	c	SPN451	Spinocerebellar Ataxia, Autosomal Recessive 29	27
201	c	HYP889	Hyperphosphatasia with Impaired Intellectual Development Syndrome 3	26
202		PRM205	Primary Hepatic Neuroendocrine Carcinoma	26
203		NRD096	Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures	26
204	c	DBT106	Diabetes Mellitus, Permanent Neonatal, 3	26
205	c	CRT089	Cortical Dysplasia, Complex, with Other Brain Malformations 10	24
206		LKN030	Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome	24
207		HTT003	Hiatt-Neu-Cooper Neurodevelopmental Syndrome	23
208		NRD079	Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies	23
209	c	CRT087	Cortical Dysplasia, Complex, with Other Brain Malformations 9	22
210	c	3MT026	3-Methylglutaconic Aciduria, Type Viia	22
211	c	CHR715	Charcot-Marie-Tooth Disease, Axonal, Type 2gg	22
212		NRM024	Neuromuscular Oculoauditory Syndrome	22
213		NRD097	Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline	22
214	c	CHR714	Charcot-Marie-Tooth Disease, Axonal, Type 2ff	20
215		SPN185	Spinal Cord Infarction	20
216		NRD127	Neurodevelopmental Disorder with Infantile Epileptic Spasms	19
217		BRS005	Breast Neuroendocrine Neoplasm	19
218	c	ALP114	Alopecia-Intellectual Disability Syndrome 2	18
219		CNG362	Congenital Trochlear Nerve Palsy	17
220		CNG457	Congenital Oculomotor Nerve Palsy	16
221		CLP007	Clpb Deficiency	15
222		BRN069	Brain and Spinal Tumors	11
223		FNC068	Functional Neurologic Disorder	10
224	c	ADL083	Adult-Onset Citrullinemia Type I	10
225	c	RRR004	Rare Arteriovenous Malformation	10
226	c	CL4005	Col4a1-Related Brain Small-Vessel Disease	9
227		MBS003	Moebius Axonal Neuropathy Hypogonadism	4
228		HMR039	Hemorrhage, Intracerebral	60
229	P	SYP003	Syphilis	60
230		PST028	Post-Traumatic Stress Disorder	59
231		APH002	Aphasia	55
232		TRD006	Tardive Dyskinesia	53
233		APR001	Apraxia	52
234		GLM045	Glioma	51
235		PYR037	Pyruvate Carboxylase Deficiency	48
236	c	CNG033	Congenital Syphilis	42
237		ADS004	Aids Dementia Complex	41
238	c	CRN277	Craniosynostosis 2	38
239		MHV001	Mahvash Disease	38
240		CRB090	Cerebral Hypoxia	38
241		MTH026	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	37
242	c	SCN006	Secondary Syphilis	37
243		HYP264	Hypertonia	35
244		MTC108	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	34
245	c	PRM022	Primary Syphilis	32
246		SYN178	Syndromic X-Linked Intellectual Disability Claes-Jensen Type	32
247	c	LTC001	Late Congenital Syphilis	31
248	c	DNC007	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	30
249		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	29
250	c	ERL002	Early Congenital Syphilis	28
251		PRS017	Prostate Neuroendocrine Neoplasm	27
252	P	NRD134	Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies	27
253		SDM007	Sodium-Dependent Multivitamin Transporter Deficiency	27
254		NRD094	Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation	25
255		SRB001	Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy	25
256		PRP102	Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development	25
257		CRB227	Cerebellar Ataxia, Brain Abnormalities, and Cardiac Conduction Defects	25
258		NRD088	Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity	25
259		NRD116	Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy	24
260		MYC075	Myoclonus, Intractable, Neonatal	24
261		CHL189	Chilton-Okur-Chung Neurodevelopmental Syndrome	24
262		NRD140	Neurodevelopmental Disorder with Impaired Language and Ataxia and with or Without Seizures	23
263		NRD119	Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism	23
264		NRH002	Neurohypophysis Granular Cell Tumor	23
265	c	CNT068	Central Pain Syndrome	22
266		INT568	Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly	22
267		NRD131	Neurodevelopmental Disorder with Dysmorphic Facies and Thin Corpus Callosum	22
268	c	CHR716	Charcot-Marie-Tooth Disease, Axonal, Type 2hh	22
269		NRD122	Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia	21
270	c	NRD152	Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies	21
271	P	DNC006	Diencephalic-Mesencephalic Junction Dysplasia	20
272		NRD126	Neurodevelopmental Disorder with Cerebellar Atrophy and Motor Dysfunction	20
273		CLN014	Colon Neuroendocrine Neoplasm	20
274		VCL007	Vocal Cord Paralysis and Ptosis	19
275		NRD146	Neurodevelopmental Disorder with Microcephaly, Seizures, and Neonatal Cholestasis	19
276	P	MNT312	Mental Health Wellness 1	18
277		MNT311	Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration	17
278		OVR004	Ovary Neuroendocrine Neoplasm	16
279		DPB002	Deep Brain Stimulation for Movement Disorders	16
280	c	PPP004	Ppp2r1a-Related Neurodevelopmental Disorder	16
281		NRP006	Neuropathy, Congenital, with Arthrogryposis Multiplex	15
282		DBT109	Diabetes Insipidus, Neurohypophyseal, X-Linked	15
283		PRN063	Peroneal Nerve, Accessory Deep	15
284	c	SH3001	Sh3tc2-Related Hereditary Motor and Sensory Neuropathy	15
285		RDL014	Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation	15
286	c	NRB012	Neuroblastoma 5	15
287	c	NRB016	Neuroblastoma 7	14
288	c	NNS123	Non-Syndromic X-Linked Intellectual Disability 97	14
289		HLL013	Hall-Riggs Mental Retardation Syndrome	14
290		HRD103	Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum	13
291	c	NRB011	Neuroblastoma 4	13
292		CRN293	Craniosynostosis-Mental Retardation-Clefting Syndrome	13
293	c	GDP003	Gdap1-Related Hereditary Motor and Sensory Neuropathy	12
294		CTR173	Cataract, Ataxia, Short Stature, and Mental Retardation	12
295		SCH022	Schimke X-Linked Mental Retardation Syndrome	12
296	c	NRB013	Neuroblastoma 6	12
297		RRR001	Rere-Related Disorders	12
298		CLL024	Colloid Cysts of Third Ventricle	11
299		LMB066	Limb Defects, Distal Transverse, with Mental Retardation and Spasticity	11
300	c	MNT313	Mental Health Wellness 2	11
301		TCP003	Tecpr2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability	10
302		ULN022	Ulnar Hypoplasia with Mental Retardation	10
303		MFN001	Mfn2 Hereditary Motor and Sensory Neuropathy	10
304		EFV001	Efavirenz, Poor Metabolism of	9
305		PRP096	Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain	9
306		SFT001	Soft Tissue Peripheral Neuroepithelioma	9
307	c	MCR373	Mecr-Related Neurologic Disorder	9
308		HRD181	Hereditary Neuroendocrine Tumor of Small Intestine	8
309	P	ATS499	Autosomal Dominant Familial Visceral Neuropathy	8
310		GJB008	Gjb1 Disorders: Charcot-Marie-Tooth Neuropathy and Central Nervous System Phenotypes	8
311		SYN181	Syndromic X-Linked Intellectual Disability Chudley-Schwartz Type	6
312		SCM002	Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities	6
313		ART040	Arthrogryposis Epileptic Seizures Migrational Brain Disorder	5
314		ARN002	Arnold Stickler Bourne Syndrome	4
315		NRL041	Neurological Sequelae of Lupus	4
316		VSC023	Vasculitis Syndromes of the Central and Peripheral Nervous Systems	4
317	P	NRL026	Neurological Channelopathy of the Central Nervous System Due to a Genetic Chloride Channel Defect	2
318	c	NRL032	Neurological Channelopathy of the Central Nervous System Due to a Genetic Glycine Receptor Defect	2
319	c	NRL036	Neurological Channelopathy of the Central Nervous System Due to a Genetic Calcium Channel Defect	2
320	c	NRL034	Neurological Channelopathy of the Central Nervous System Due to a Genetic Gaba Receptor Defect	2
321	c	NRL037	Neurological Channelopathy of the Central Nervous System Due to a Genetic Potassium Channel Defect	2
322	c	NRL033	Neurological Channelopathy of the Central Nervous System Due to a Genetic Acetylcholine Receptor Defect	2
323	c	NRL035	Neurological Channelopathy of the Central Nervous System Due to a Genetic Sodium Channel Defect	2
324		GNT173	Genetic Neurological Channelopathy of the Central Nervous System	2
325	P	CRB048	Cerebral Cavernous Malformations	66
326	c	MCP047	Mucopolysaccharidosis, Type Iva	65
327		PTS001	Patau Syndrome	57
328		OCL069	Ocular Motor Apraxia	48
329		HYP648	Hypertension and Brachydactyly Syndrome	45
330		MTC019	Metachromatic Leukodystrophy Due to Saposin B Deficiency	37
331		CNG538	Congenital Arthrogryposis with Anterior Horn Cell Disease	34
332	P	RJB003	Rajab Interstitial Lung Disease with Brain Calcifications 1	33
333		MGC007	Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations	32
334	P	TSS006	Tessadori-Van Haaften Neurodevelopmental Syndrome 1	32
335	c	HYP723	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1	32
336	P	ALP116	Alopecia-Intellectual Disability Syndrome 4	29
337		NRD156	Neurodevelopmental Disorder with Poor Growth and Skeletal Anomalies	28
338	c	LKD030	Leukodystrophy, Hypomyelinating, 17	28
339	P	HYP821	Hypermanganesemia with Dystonia	27
340		SPN424	Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits	27
341	c	BSL046	Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	26
342		MRB008	Marbach-Schaaf Neurodevelopmental Syndrome	24
343		NRD068	Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia	24
344	c	MTC234	Mitochondrial Dna Depletion Syndrome 16b	24
345		NRD062	Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction	24
346	c	CRB226	Cerebral Cavernous Malformations 4	23
347	c	RJB004	Rajab Interstitial Lung Disease with Brain Calcifications 2	23
348		NRD044	Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features	23
349		ILL003	Illum Syndrome	23
350		CLP002	Colpocephaly	23
351		DNT053	Dentici-Novelli Neurodevelopmental Syndrome	22
352		NRD154	Neurodegeneration, Childhood-Onset, with Progressive Microcephaly	22
353		MCR371	Microcephaly, Growth Deficiency, Seizures, and Brain Malformations	22
354		NRD027	Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset	22
355		HRS002	Hersh Podruch Weisskopk Syndrome	21
356		NRD162	Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies	21
357		NRD078	Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity	21
358		NRP070	Neuropathy, Hereditary Motor, with Myopathic Features	21
359		NRC024	Neurocardiofaciodigital Syndrome	20
360	c	VSC070	Visceral Neuropathy, Familial, 2, Autosomal Recessive	20
361		NRD159	Neurodevelopmental Disorder with Dystonia and Seizures	20
362		DWR024	Dworschak-Punetha Neurodevelopmental Syndrome	19
363		NRD158	Neurodevelopmental Disorder with Language Delay and Seizures	18
364		ATX047	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation	17
365	c	CHR732	Charcot-Marie-Tooth Disease, Demyelinating, Type 1j	17
366		NRD174	Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly	17
367		NRD175	Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects	16
368		SPR032	Superficial Siderosis of the Central Nervous System	15
369		NRD176	Neurodegeneration, Childhood-Onset, with Multisystem Involvement Due to Mitochondrial Dysfunction	15
370		HYP671	Hypomyelination Neuropathy-Arthrogryposis Syndrome	15
371		SCL044	Scalp Syndrome	14
372		RCR030	Recurrent Idiopathic Neuroretinitis	12
373		MDD017	Middle Ear Neuroendocrine Tumor	12
374		NRL040	Neurological Complications of Lyme Disease	6
375		FBX004	Fbxw7 Neurodevelopmental Syndrome	3
376		LBR037	Leber Hereditary Optic Neuropathy with Demyelinating Disease of Cns	3
377	P	CRN037	Craniosynostosis	66
378		ASP004	Asphyxia Neonatorum	54
379	c	CRN278	Craniosynostosis 1	53
380	P	BSL038	Basal Ganglia Calcification, Idiopathic, 1	52
381		MNN020	Meningococcal Infection	51
382		PTT041	Pituitary Stalk Interruption Syndrome	49
383	P	CHR345	Chronic Pain	48
384		LRN003	Learning Disability	45
385		MXD026	Mixed Glioma	45
386		LRG014	Large Cell Neuroendocrine Carcinoma	38
387		CMB041	Combined Oxidative Phosphorylation Deficiency 13	38
388		PRS063	Paresthesia	38
389		SWL001	Swallowing Disorders	37
390	P	OCL076	Oculopharyngodistal Myopathy 1	36
391	P	DYS021	Dysautonomia	36
392	c	SPS237	Spastic Paraplegia 30, Autosomal Dominant	36
393		CMB048	Combined Oxidative Phosphorylation Deficiency 15	35
394	P	CRB088	Cerebral Atrophy	34
395		CRT033	Corticobasal Degeneration	33
396	c	AMY094	Amyotrophic Lateral Sclerosis 5, Juvenile	32
397	c	CRN281	Craniosynostosis 7	32
398		BRN137	Bronchial Neuroendocrine Tumor	31
399		FTD001	Foot Drop	30
400	c	CRN217	Craniosynostosis 3	28
401	c	CRN221	Craniosynostosis 4	28
402	c	PRV018	Periventricular Nodular Heterotopia 7	27
403		CMB002	Combat Disorder	27
404		LKN018	Leukoencephalopathy, Progressive, with Ovarian Failure	27
405		LKN017	Leukoencephalopathy with Ataxia	27
406		WCK004	Wieacker-Wolff Syndrome, Female-Restricted	26
407	c	PRV022	Periventricular Nodular Heterotopia 9	26
408		SHK002	Shukla-Vernon Syndrome	26
409		NRD077	Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies	26
410	c	CRN256	Craniosynostosis 6	25
411	c	MCR382	Microcephaly 26, Primary, Autosomal Dominant	25
412	c	BSL049	Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	25
413	c	BSL035	Basal Ganglia Calcification, Idiopathic, 5	24
414		NRD138	Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures	24
415	c	BSL039	Basal Ganglia Calcification, Idiopathic, 6	24
416	c	SPN440	Spinocerebellar Ataxia, Autosomal Recessive 28	24
417		SYN176	Syndromic X-Linked Intellectual Disability Hedera Type	24
418	c	SPS042	Spastic Paraplegia 9	24
419		STR112	Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis	24
420		MTC229	Mitochondrial Complex Ii Deficiency, Nuclear Type 2	23
421	c	LKD032	Leukodystrophy, Hypomyelinating, 19, Transient Infantile	23
422	c	AMY110	Amyotrophic Lateral Sclerosis 24	23
423	c	SPN452	Spinocerebellar Ataxia, Autosomal Recessive 30	23
424	c	CHR681	Charcot-Marie-Tooth Disease, Demyelinating, Type 1g	23
425		KYB001	Kaya-Barakat-Masson Syndrome	23
426	c	OCL084	Oculopharyngodistal Myopathy 3	23
427		ATX050	Ataxia, Intention Tremor, and Hypotonia Syndrome, Childhood-Onset	22
428	c	PRV021	Periventricular Nodular Heterotopia 8	22
429		PDT043	Pediatric Acute-Onset Neuropsychiatric Syndrome	22
430		NRD035	Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures	22
431		PRN072	Parenti-Mignot Neurodevelopmental Syndrome	22
432	c	SPN459	Spinocerebellar Ataxia, Autosomal Recessive 32	22
433		AMY018	Amyotonia Congenita	22
434		THY108	Thymic Neuroendocrine Tumor	22
435		BSL043	Basal Ganglia Calcification, Idiopathic, Childhood-Onset	21
436		LCM001	Li-Campeau Syndrome	21
437	c	LKD034	Leukodystrophy, Hypomyelinating, 21	21
438	c	CRB140	Cerebral Palsy, Spastic Quadriplegic, 2	21
439		CMB101	Combined Oxidative Phosphorylation Deficiency 45	21
440	c	OCL085	Oculopharyngodistal Myopathy 4	21
441		MCR370	Macrocephaly, Acquired, with Impaired Intellectual Development	20
442		MTC224	Mitochondrial Complex Iv Deficiency, Nuclear Type 17	20
443		CNT067	Central Cord Syndrome	20
444	c	AMY112	Amyotrophic Lateral Sclerosis 25	20
445		NRD076	Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly	20
446	c	EPL257	Epilepsy, Progressive Myoclonic, 12	20
447	c	OCL080	Oculopharyngodistal Myopathy 2	20
448		CLR148	Ciliary Dyskinesia, Primary, 47, and Lissencephaly	19
449		BBB001	Bobble-Head Doll Syndrome	19
450		RTN207	Retinopathy, Pigmentary, and Mental Retardation	19
451		ABS003	Absence of Septum Pellucidum	18
452	c	CHR731	Charcot-Marie-Tooth Disease, Axonal, Type 2ii	18
453		BRS024	Breast Large Cell Neuroendocrine Carcinoma	18
454		NRD163	Neurodevelopmental Disorder with Intention Tremor, Pyramidal Signs, Dyspraxia, and Ocular Anomalies	18
455	c	HYD071	Hydrocephalus, Normal-Pressure, 1	18
456		PRP110	Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	17
457		RTR023	Retroperitoneal Neuroblastoma	17
458		ENC073	Encephalitis, Acute, Infection -Induced 11	17
459		GLL034	Gallbladder Neuroendocrine Tumor	16
460	c	ALP115	Alopecia-Intellectual Disability Syndrome 3	16
461		CCH008	Cochlear Nerve Deficiency	16
462	c	DYS194	Dysautonomia-Like Disorder	15
463		NRD179	Neurodevelopmental Disorder with Speech Impairment and with or Without Seizures	14
464		INF124	Infundibulo-Neurohypophysitis	14
465		MBS006	Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	12
466		MCH015	Machado-Joseph Disease and Spinocerebellar Ataxia	9
467		SYN180	Syndromic X-Linked Intellectual Disability Shrimpton Type	9
468		EXT057	Extensive Peripapillary Myelinated Nerve Fibers	8
469		LNR018	Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies	8
470	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
471	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	7
472		FML335	Familial Gastric Type 1 Neuroendocrine Tumor	7
473	c	CRN093	Craniosynostosis Autosomal Dominant	4
474		NRB018	Neurobehavioral Disorder with Prenatal Alcohol Exposure	3
475		NRL011	Neurological Consequences of Cytomegalovirus Infection	3
476	P	ATS364	Autism	74
477	c	ATS007	Autism Spectrum Disorder	70
478	P	ZLL001	Zellweger Syndrome	64
479	c	NMN014	Niemann-Pick Disease, Type C2	53
480	P	NLX004	Neu-Laxova Syndrome 1	51
481		LNG116	Long Covid	49
482		TRN022	Transcobalamin Ii Deficiency	48
483	c	ZLL011	Zellweger Spectrum Disorder	47
484		LPD009	Lipid Storage Disease	46
485	P	PLL002	Pellagra	46
486	P	BRB001	Beriberi	45
487	P	CRN321	Cornelia De Lange Syndrome 4 with or Without Midline Brain Defects	45
488		SPN362	Spondylometaphyseal Dysplasia, Sedaghatian Type	44
489	c	CRN320	Cornelia De Lange Syndrome 3 with or Without Midline Brain Defects	43
490	c	NLX003	Neu-Laxova Syndrome 2	43
491		MLY001	Molybdenum Cofactor Deficiency	41
492		OHT001	Ohtahara Syndrome	41
493		CLF050	Cleft Palate, Cardiac Defects, and Mental Retardation	40
494		ENC065	Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization	40
495	P	PRS013	Prosopagnosia	39
496	P	HYP263	Hypersomnia	37
497	P	CNG041	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	36
498	P	HRD217	Hereditary Optic Neuropathy	36
499		SYN177	Syndromic X-Linked Intellectual Disability Najm Type	35
500	c	SPN095	Spinocerebellar Ataxia 19	35
501		MLD017	Mal De Debarquement Syndrome	34
502		PRN039	Paraneoplastic Syndromes	33
503	c	ACR084	Aicardi-Goutieres Syndrome 7	33
504		DYS003	Dysgraphia	33
505		CMB078	Combined Oxidative Phosphorylation Deficiency 32	33
506	c	HYP698	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2	32
507	c	RCR002	Recurrent Hypersomnia	32
508		NRG001	Neurogenic Bowel	32
509		SYN091	Syndromic X-Linked Intellectual Disability Nascimento Type	32
510		GRN006	Granulomatous Angiitis	32
511	c	ADL008	Adult Oligodendroglioma	32
512		CHR718	Chromosome 1p36 Deletion Syndrome, Distal	29
513	c	SVR109	Severe Congenital Neutropenia 8	28
514		GNT004	Gnathomiasis	28
515	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	28
516	c	PRS058	Prosopagnosia, Hereditary	28
517		TCH005	Tièche-Jadassohn Nevus	28
518		SYN079	Syndromic X-Linked Intellectual Disability Siderius Type	27
519	c	ENC060	Encephalopathy, Acute, Infection-Induced 1	27
520	c	BSL032	Basal Ganglia Calcification, Idiopathic, 4	26
521	c	LKD031	Leukodystrophy, Hypomyelinating, 18	26
522		PRV020	Periventricular Heterotopia with Microcephaly, Autosomal Recessive	26
523	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	26
524		NZN001	Nizon-Isidor Syndrome	26
525	c	CRP037	Carpal Tunnel Syndrome 2	26
526		DDN005	Duodenal Somatostatinoma	26
527		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	26
528	c	CNG622	Congenital Disorder of Glycosylation, Type 2v	26
529		DRG004	Drug-Induced Mental Disorder	26
530		TCK002	Tick Paralysis	25
531		RDT018	Radio-Tartaglia Syndrome	25
532		LSS039	Lissencephaly 6 with Microcephaly	25
533	c	LKD029	Leukodystrophy, Hypomyelinating, 16	25
534	c	ATS370	Autism 3	25
535	c	HRD156	Hereditary Central Diabetes Insipidus	25
536	c	NNS087	Non-Syndromic X-Linked Intellectual Disability 93	25
537		MYC030	Myoclonic Epilepsy Myopathy Sensory Ataxia	24
538		HLP032	Holoprosencephaly 13, X-Linked	24
539		CHL150	Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter	24
540	c	ACR123	Aicardi-Goutieres Syndrome 8	24
541		NRP027	Neuropathy, Painful	23
542	c	SPS230	Spastic Paraplegia Type 49	23
543	c	ENC037	Encephalopathy, Acute, Infection-Induced 6	23
544	c	EPL254	Epilepsy, Progressive Myoclonic, 11	23
545	c	LKD035	Leukodystrophy, Hypomyelinating, 22	23
546	P	NNP004	Nonphotosensitive Trichothiodystrophy	23
547	P	HYP893	Hypomagnesemia, Seizures, and Impaired Intellectual Development 2	23
548		MGL040	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Impaired Intellectual Development	23
549	c	HYP892	Hypomagnesemia, Seizures, and Impaired Intellectual Development 1	23
550	c	ACQ034	Acquired Central Diabetes Insipidus	23
551		DDN028	Duodenal Neuroendocrine Tumor	23
552	c	MLT124	Multiple Sclerosis 5	23
553	c	CRN216	Craniosynostosis 5	23
554		SHK001	Shaken Baby Syndrome	23
555	c	DYS216	Dystonia 32	23
556	c	JBR051	Joubert Syndrome 39	23
557	c	ATS376	Autism 15	22
558	c	ATS474	Autism 20	22
559	c	ATS369	Autism 8	22
560		HYD066	Hydrocephalus, Congenital, 3, with Brain Anomalies	22
561		LGH020	Li-Ghorbani-Weisz-Hubshman Syndrome	22
562	c	JBR052	Joubert Syndrome 40	22
563	c	NNS088	Non-Syndromic X-Linked Intellectual Disability 63	22
564		SPN409	Spongiform Encephalopathy with Neuropsychiatric Features	22
565	c	ENC063	Encephalopathy, Acute, Infection-Induced 7	22
566		MTC220	Mitochondrial Complex Iv Deficiency, Nuclear Type 12	21
567		MNN022	Meningoencephalocele	21
568		ACT235	Acute Macular Neuroretinopathy	21
569		SPN086	Spinal Intradural Arachnoid Cysts	21
570	c	ENC062	Encephalopathy, Acute, Infection-Induced 5	21
571		DFF029	Diffuse Large B-Cell Lymphoma of the Central Nervous System	21
572		MTC223	Mitochondrial Complex Iv Deficiency, Nuclear Type 16	20
573	c	ATS378	Autism 17	20
574		LSC005	Luo-Schoch-Yamamoto Syndrome	20
575		URM001	Uremic Neuropathy	20
576		GNT023	Gnathostoma Infection	20
577	c	ATS377	Autism 16	20
578	c	NNS093	Non-Syndromic X-Linked Intellectual Disability 41	19
579		MTC228	Mitochondrial Complex Iv Deficiency, Nuclear Type 21	18
580		NRD055	Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum	18
581		CYS040	Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation	18
582	c	ATS371	Autism 6	18
583		ATM074	Autoimmune Autonomic Ganglionopathy	18
584	c	NNS119	Non-Syndromic X-Linked Intellectual Disability 96	18
585		JJN001	Jejunal Somatostatinoma	18
586	c	PLL014	Pellagra-Like Syndrome	17
587		SKL027	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal	17
588	c	CHR121	Charcot-Marie-Tooth Neuropathy X Type 5	17
589		IDP022	Idiopathic Spinal Cord Herniation	17
590	c	WST009	West Nile Virus Encephalitis	17
591		CRB053	Cerebellar Agenesis	17
592	c	ATS170	Autism 19	16
593		MNT315	Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism	16
594	c	ATS372	Autism 7	16
595		SPS218	Spastic Diplegia and Mental Retardation	15
596	c	ATS374	Autism 12	15
597		NRD172	Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing Loss	15
598		LKD038	Leukodystrophy, Childhood-Onset, Remitting	15
599		CTS046	Cutis Verticis Gyrata and Mental Retardation	15
600		SNR002	Sener Syndrome	15
601	c	ATS171	Autism 9	15
602	c	ATS172	Autism 10	15
603	c	ATS373	Autism 11	14
604		CRN103	Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig	14
605	c	ATS375	Autism 13	14
606		KLM001	Klumpke Paralysis	14
607		SPS193	Spastic Paraplegia, Epilepsy, and Mental Retardation	14
608		CRM012	Cree Mental Retardation Syndrome	14
609		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	13
610	P	ATP015	Atp1a3-Related Neurologic Disorders	13
611		OCL024	Ocular Neuromyotonia	13
612		EHL082	Ehlers-Danlos Syndrome, Beasley-Cohen Type	13
613		GNT082	Genetic Neuromuscular Disease	13
614		NRN032	Neuroendocrine Tumor of Anal Canal	12
615		MNT030	Mental Retardation Syndrome, Belgian Type	12
616	c	NNS122	Non-Syndromic X-Linked Intellectual Disability 98	12
617		MYT024	Myotonia with Skeletal Abnormalities and Mental Retardation	12
618		NTR055	Ntrk1 Congenital Insensitivity to Pain with Anhidrosis	12
619		SPN396	Spinal Muscular Atrophy with Mental Retardation	12
620		MSC159	Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers	12
621		NRL021	Neurologic Disease, Infantile Multisystem, with Osseous Fragility	12
622		CHR580	Choroid Plexus Calcification and Mental Retardation	12
623		CTR179	Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy	12
624		DFN340	Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease	11
625		MDN009	Median-Ulnar Nerve Communications	11
626		SPN388	Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy	11
627	c	CTD001	Ctdp1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy	11
628		GNT083	Genetic Neurodegenerative Disease	11
629	P	FTL014	Fetal Brain Disruption Sequence	11
630		MNT255	Mental Retardation and Psoriasis	11
631		FCL076	Facial Abnormalities, Kyphoscoliosis, and Mental Retardation	11
632		MND028	Mandibulofacial Dysostosis with Mental Retardation	11
633		OPH019	Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria	11
634		NRP069	Neuro-Ophthalmological Disease	11
635		SCR041	Sucrosuria, Hiatus Hernia and Mental Retardation	11
636		NRP061	Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia	10
637		LRY052	Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy	10
638		MRF017	Marfanoid Mental Retardation Syndrome, Autosomal	10
639		LCL011	Localized Hypertrophic Neuropathy	10
640		VTL010	Vitiligo, Progressive, with Mental Retardation and Urethral Duplication	10
641	c	DDX004	Ddx3x-Related Neurodevelopmental Disorder	10
642	c	NNS130	Non-Syndromic X-Linked Intellectual Disability 23	10
643		MNT299	Mental and Growth Retardation with Amblyopia	10
644		ELC003	Electroencephalographic Pattern, Beta Frequency, Quantitative Trait Locus	10
645		ICH027	Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin	9
646	P	DCT005	Dctn1-Related Neurodegeneration	9
647		CHD011	Chd8-Related Neurodevelopmental Disorder with Overgrowth	9
648		LNT009	Lentiginosis, Centrofacial Neurodysraphic	9
649	c	NNS128	Non-Syndromic X-Linked Intellectual Disability 73	9
650		EBF001	Ebf3 Neurodevelopmental Disorder	9
651		SPT025	Sptbn4 Disorder	9
652		STD002	Setd2 Neurodevelopmental Disorders	9
653		CHR628	Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type	9
654		NRP052	Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine	9
655	P	CRN291	Cranial Nerves, Recurrent Paresis of	9
656		CHD008	Chd4 Neurodevelopmental Disorder	9
657		HYP778	Hypertrophic Neuropathy and Cataract	9
658		MNT250	Mental Retardation with Spastic Paraplegia	8
659		MDF003	Modifier, X-Linked, for Neurofunctional Defects	8
660	c	SVR017	Severe Infantile Axonal Neuropathy	8
661		PPP003	Ppp1r12a-Related Urogenital and/or Brain Malformation Syndrome	8
662		PRL043	Poorly Differentiated Thymic Neuroendocrine Carcinoma	8
663		HYP797	Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses	8
664		GRS015	Gars1-Associated Axonal Neuropathy	8
665		BSC007	Bscl2-Related Neurologic Disorders / Seipinopathy	8
666		CRT047	Creatine Kinase, Brain Type, Ectopic Expression of	7
667		SCN086	Scn9a Neuropathic Pain Syndromes	7
668		GNT121	Genetic Cerebral Malformation	7
669	c	GNR049	Gan-Related Neurodegeneration	7
670	c	CRN290	Cranial Nerves, Congenital Paresis of	7
671		ALK018	Alk-Related Neuroblastic Tumor Susceptibility	7
672	c	INF044	Infantile Axonal Neuropathy	7
673		NRV014	Neurovisceral Storage Disease with Curvilinear Bodies	7
674	c	RRD010	Rare Disease with Autism	7
675		SPN453	Spondyloepiphyseal Dysplasia Tarda with Intellectual Disability	7
676	c	CLC065	Clcn4-Related Neurodevelopmental Disorder	7
677	P	BNG037	Benign Angiitis of the Central Nervous System	6
678	c	NNS120	Non-Syndromic X-Linked Intellectual Disability 105	6
679		BYL002	Boylan Dew Greco Syndrome	6
680		CTS013	Cutis Verticis Gyrata Mental Deficiency	6
681		SHR110	Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting	6
682		NRP056	Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive	6
683		MCR344	Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation	6
684		EMP013	Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation	5
685		SYN121	Syndromic Hereditary Optic Neuropathy	5
686		RRP021	Rare Ophthalmic Disorder with Cranial Nerve Involvement	5
687		ANM047	Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome	5
688		MSC208	Mosaic Legius Syndrome	5
689		CNT053	Cantu Sanchez-Corona Fragoso Syndrome	5
690		ATS441	Autosomal Ichthyosis Syndrome with Prominent Neurologic Signs	5
691		GNT081	Genetic Central Nervous System Malformation	5
692		DRC003	Drachtman Weinblatt Sitarz Syndrome	5
693		GNT187	Genetic Syndrome with a Central Nervous System Malformation As a Major Feature	4
694		GLT033	Glutamic Acid Decarboxylase, Brain, Membrane Form	4
695		KZN001	Kuzniecky Andermann Syndrome	4
696		GNT058	Genetic Neuro-Ophthalmological Disease	4
697	c	RRT018	Rare Trochlear Nerve Disorder	4
698		SYN094	Syndromic X-Linked Mental Retardation Hough Type	4
699		DSR086	Disorder with Optic Nerve Compression	4
700		RRC030	Rare Oculomotor Nerve Disorder	4
701		GST109	Gastroenteric Neuroendocrine Neoplasm	3
702		GNT120	Genetic Non-Syndromic Central Nervous System Malformation	3
703		DSR082	Disorder of Neurotransmitter Metabolism and Transport	3
704		GNT080	Genetic Central Nervous System and Retinal Vascular Disease	3
705		GNT153	Genetic Neurovascular Malformation	3
706		ATX012	Ataxias and Cerebellar or Spinocerebellar Degeneration	3
707		CRN091	Craniosynostosis Alopecia Brain Defect	3
708		EPD081	Epidermoid Brain Cyst	3
709	c	MSC195	Miscellaneous Movement Disorder Due to Genetic Neurodegenerative Disease	3
710		NRN048	Neuroendocrine Tumor with Other Location	3
711		DSR018	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Central Nervous System Predominant Involvement	3
712		DSR017	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Peripheral Nerves Predominant Involvement	3
713		RRG067	Rare Genetic Ophthalmic Disorder with Cranial Nerve Involvement	3
714		GNT110	Genetic Neurodegenerative Disease with Dementia	3
715		GNT115	Genetic Neuroendocrine Tumor	2
716		KF1004	Kif1a-Associated Neurological Disorder	2
717		QLT010	Qualitative or Quantitative Protein Defects in Neuromuscular Diseases	2
718		LMN009	Laminopathy with Peripheral Neuropathy	2
719		HYP234	Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response	2
720		DFN018	Deafness Peripheral Neuropathy Arterial Disease	2
721		DFN012	Deafness Mesenteric Diverticula of Small Bowel Neuropathy	2
722		CRN305	Corneal Neuropathic Disease	1
723		CHR279	Chronic Demyelinizing Neuropathy with Igm Monoclonal	1
724		NDM001	Nedamss Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures	1
725		FCL024	Focal or Multifocal Malformations in Neuronal Migration	1
726		RTN074	Retinopathy Aplastic Anemia Neurological Abnormalities	1
727		NRN007	Neuronal Interstitial Dysplasia	1
728	P	ATX030	Ataxia-Telangiectasia	81
729	P	PRK057	Parkinson Disease, Late-Onset	81
730	P	MLT020	Multiple Sclerosis	81
731	P	RTT002	Rett Syndrome	78
732	P	SCH015	Schizophrenia	76
733		SCH036	Scheie Syndrome	75
734		ADR007	Adrenoleukodystrophy	75
735		MYL069	Myeloma, Multiple	75
736	c	TBR025	Tuberous Sclerosis 1	74
737	c	MSM022	Mismatch Repair Cancer Syndrome 1	73
738	P	LFR001	Li-Fraumeni Syndrome	73
739	P	HNT016	Huntington Disease	72
740	c	GLY008	Glycogen Storage Disease Ii	72
741	P	MTC003	Metachromatic Leukodystrophy	72
742	P	FRG001	Fragile X Syndrome	69
743	P	DYS007	Dyskeratosis Congenita	69
744		LGH007	Leigh Syndrome	69
745	P	SHW006	Shwachman-Diamond Syndrome 1	68
746	P	TBR001	Tuberous Sclerosis	68
747	c	MGR028	Migraine with or Without Aura 1	67
748	P	MYP004	Myopathy	67
749		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	67
750		LWC002	Lowe Oculocerebrorenal Syndrome	67
751	P	GLC113	Galactosemia I	66
752	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	66
753		GLS018	Glass Syndrome	66
754	c	MCL013	Mucolipidosis Iv	66
755	c	EPS035	Episodic Ataxia, Type 2	66
756	c	GM1007	Gm1 Gangliosidosis	66
757	c	GLY060	Glycogen Storage Disease Ia	66
758		SPT006	Septooptic Dysplasia	65
759	c	MCP049	Mucopolysaccharidosis, Type Vii	65
760		ORN008	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	64
761		APR006	Apert Syndrome	64
762		FCL009	Focal Dermal Hypoplasia	64
763	P	HRD008	Hereditary Hemorrhagic Telangiectasia	64
764		CHN016	Cohen Syndrome	64
765		TNG002	Tangier Disease	64
766	c	TBR026	Tuberous Sclerosis 2	63
767		NNN026	Noonan Syndrome with Multiple Lentigines	63
768	P	HYD006	Hydrocephalus	63
769		WLL001	Williams-Beuren Syndrome	63
770	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	63
771	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	62
772	c	NMN016	Niemann-Pick Disease, Type B	62
773		HRP004	Herpes Zoster	62
774	P	ANR048	Aniridia 1	62
775	P	PLY017	Polyarteritis Nodosa	62
776		CNT105	Central Core Disease of Muscle	62
777		TRG002	Trigeminal Neuralgia	61
778		GLT035	Glutaric Acidemia I	61
779		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	61
780	P	GLL022	Guillain-Barre Syndrome	61
781		ERL001	Early Myoclonic Encephalopathy	61
782	c	OTP007	Otopalatodigital Syndrome, Type Ii	61
783	P	PTT014	Pitt-Hopkins Syndrome	60
784		CYS005	Cysticercosis	60
785		WVR001	Weaver Syndrome	60
786	c	GLY005	Glycogen Storage Disease Vi	59
787	P	GLY013	Glycogen Storage Disease	59
788	P	MYM013	Moyamoya Disease 1	59
789		OCC006	Occipital Horn Syndrome	59
790	P	LKD001	Leukodystrophy	59
791	c	EPS042	Episodic Ataxia, Type 1	58
792		PMS001	Poems Syndrome	58
793	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	58
794		SPN186	Spinal Cord Injury	57
795	P	CTS001	Cutis Laxa	57
796		LNN001	Lennox-Gastaut Syndrome	57
797		SJG002	Sjogren-Larsson Syndrome	57
798	c	CTS045	Cutis Laxa, Autosomal Dominant 1	57
799	c	CNT016	Central Retinal Vein Occlusion	57
800	P	PRK039	Parkinsonism	57
801	c	MCL046	Mucolipidosis Iii Alpha/beta	57
802		GRS011	Gerstmann-Straussler Disease	56
803		RLP002	Relapsing-Remitting Multiple Sclerosis	56
804		PRT058	Pure Autonomic Failure	56
805	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	56
806	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	56
807		VGT001	Vogt-Koyanagi-Harada Disease	55
808		KBG001	Kbg Syndrome	55
809	P	LTR009	Lateral Meningocele Syndrome	55
810	c	GLC111	Galactosemia Ii	55
811		AMY084	Amyloidosis, Finnish Type	55
812	P	SCK004	Seckel Syndrome	55
813	c	ESS001	Essential Tremor	55
814		HLS003	Helsmoortel-Van Der Aa Syndrome	54
815	P	SLV027	Silver-Russell Syndrome 1	54
816		SPN041	Spinal Cord Disease	54
817	c	MCR240	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	54
818		MNN032	Meningococcal Meningitis	54
819	c	HYD064	Hydrocephalus, Congenital, 1	54
820	P	TRM003	Tremor	54
821		MLT135	Multiple Sulfatase Deficiency	53
822		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	53
823	P	FNG006	Feingold Syndrome 1	53
824		FCL014	Focal Epilepsy	53
825	c	GLC112	Galactosemia Iii	53
826		NRT004	Neuritis	53
827		CHP002	Chops Syndrome	53
828		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	53
829		DBT010	Diabetic Neuropathy	53
830	c	CNG216	Congenital Hydrocephalus	53
831	P	NRD007	Neurodegeneration with Brain Iron Accumulation	52
832	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
833		HMP005	Hemiplegia	52
834	P	FBR031	Febrile Seizures	52
835		YNS002	Yunis-Varon Syndrome	52
836		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	52
837		JHN001	Johanson-Blizzard Syndrome	52
838	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	52
839	P	FRN012	Frontometaphyseal Dysplasia	52
840	P	ANN002	Anencephaly	52
841		BRD054	Brody Disease	52
842	c	PRG011	Progressive Myoclonus Epilepsy	52
843	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	52
844	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	52
845		NRL004	Neuroleptic Malignant Syndrome	51
846		KRT006	Keratoconjunctivitis	51
847	c	TRC092	Trichorhinophalangeal Syndrome, Type I	51
848	c	FRN059	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7	51
849	P	MGR003	Migraine with Aura	51
850	P	CRN025	Corneal Dystrophy	51
851	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	51
852	c	HRD173	Hereditary Late-Onset Parkinson Disease	51
853	c	PRK085	Parkinson Disease 1, Autosomal Dominant	51
854		SPS007	Spastic Cerebral Palsy	51
855	c	D2H002	D-2-Hydroxyglutaric Aciduria 1	51
856	P	MNN007	Meningocele	50
857		OHD005	Ohdo Syndrome, Sbbys Variant	50
858	c	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	50
859		FCL012	Facial Paralysis	50
860		SND002	Sneddon Syndrome	50
861		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	50
862		INT075	Intracranial Hypertension	50
863		ENC054	Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations	50
864		TTH004	Tethered Spinal Cord Syndrome	50
865	P	MCL001	Mucolipidosis	50
866		SCH074	Schuurs-Hoeijmakers Syndrome	50
867		SBP001	Subependymal Giant Cell Astrocytoma	50
868	c	HNT004	Huntington Disease-Like 2	49
869		MCR088	Microscopic Polyangiitis	49
870	c	MCL016	Mucolipidosis Iii Gamma	49
871	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	49
872	c	EPS017	Episodic Ataxia, Type 6	49
873	c	CHR095	Chronic Progressive External Ophthalmoplegia	49
874	P	BHR002	Bohring-Opitz Syndrome	49
875	P	MGR001	Migraine Without Aura	48
876		BLL004	Bullous Keratopathy	48
877		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	48
878	P	SCL015	Scleritis	48
879		PLY024	Polymicrogyria	48
880		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	48
881	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	48
882	c	JBR013	Joubert Syndrome 8	48
883		HYP059	Hypertelorism, Microtia, Facial Clefting Syndrome	48
884	c	PRM108	Primary Progressive Multiple Sclerosis	48
885		MNN009	Meningoencephalitis	48
886		SPN402	Spinal Muscular Atrophy, X-Linked 2	48
887	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	48
888		THR013	Thoracic Outlet Syndrome	48
889		PRL019	Prolidase Deficiency	47
890		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	47
891	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	47
892		SML028	Semilobar Holoprosencephaly	47
893	c	SPN312	Spinocerebellar Ataxia 14	47
894	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	47
895	c	EPS034	Episodic Ataxia, Type 5	47
896		EPT021	Epithelial Recurrent Erosion Dystrophy	47
897		CCN001	Cocaine Dependence	47
898	c	HLP027	Holoprosencephaly 7	47
899	P	MTC010	Mitochondrial Dna Depletion Syndrome	47
900	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	47
901		PTH003	Pathologic Nystagmus	47
902	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	47
903	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	47
904	P	MSM014	Mismatch Repair Cancer Syndrome	47
905	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	47
906	c	JBR024	Joubert Syndrome 14	47
907	c	ATS393	Autosomal Recessive Cutis Laxa Type I	46
908		WHT019	White-Sutton Syndrome	46
909		UNV001	Unverricht-Lundborg Syndrome	46
910		SYN036	Syncope	46
911	c	DYS059	Dystonia 16	46
912	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	46
913		HSD004	Hsd10 Mitochondrial Disease	46
914	c	GLL037	Guillain-Barre Syndrome, Familial	46
915	P	PLY020	Polyradiculoneuropathy	46
916	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	46
917		MCL009	Mcleod Syndrome	46
918	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	46
919	c	JBR043	Joubert Syndrome 32	46
920	c	JBR031	Joubert Syndrome 21	46
921		QDR001	Quadriplegia	46
922	c	HNT010	Huntington Disease-Like 1	46
923		HNN001	Hennekam Syndrome	46
924	c	GLY016	Glycogen Storage Disease Ib	46
925	P	DMY001	Demyelinating Polyneuropathy	46
926	P	SPS008	Spastic Ataxia	45
927	c	PRK065	Parkinson Disease 20, Early-Onset	45
928	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	45
929	c	GM2006	Gm2 Gangliosidosis	45
930	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	45
931	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	45
932	c	FBR070	Febrile Seizures, Familial, 8	45
933		RNP003	Renpenning Syndrome 1	45
934	c	ALZ062	Alzheimer Disease 19	45
935	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	45
936	P	TRN034	Transverse Myelitis	45
937		GNG008	Ganglioneuroblastoma	45
938	c	SCN036	Secondary Progressive Multiple Sclerosis	45
939	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	44
940	c	SPN286	Spinocerebellar Ataxia 40	44
941	c	PRK093	Parkinson Disease 8, Autosomal Dominant	44
942	c	NGH010	Night Blindness, Congenital Stationary, Autosomal Dominant 2	44
943	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	44
944	c	SCK009	Seckel Syndrome 1	44
945		LNG015	Lingual-Facial-Buccal Dyskinesia	44
946		VTR003	Vitreous Detachment	44
947		MCR099	Microlissencephaly	44
948	P	CRN026	Corneal Edema	44
949		BCK003	Background Diabetic Retinopathy	44
950		MYH012	Myhre Syndrome	44
951		CNJ012	Conjunctival Disease	44
952	c	ATM099	Autoimmune Uveitis	44
953		KRT008	Keratopathy	44
954		HYP034	Hypertensive Encephalopathy	44
955	P	CMM008	Communicating Hydrocephalus	43
956	c	GLY044	Glycogen Storage Disease Ixc	43
957	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	43
958		WDM005	Wiedemann-Rautenstrauch Syndrome	43
959	c	PRK052	Parkinson Disease 17	43
960	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	43
961	c	CTR130	Cataract 9, Multiple Types	43
962	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	43
963		EPL001	Epilepsy with Generalized Tonic-Clonic Seizures	43
964		CNT063	Continuous Spike-Wave During Slow Sleep Syndrome	43
965		OBS004	Obstructive Hydrocephalus	43
966		INF159	Infantile Sialic Acid Storage Disease	43
967		ENC005	Encephalomalacia	43
968	c	MYC083	Myoclonic Epilepsy, Familial Infantile	43
969		NTR007	Neutral Lipid Storage Disease with Myopathy	42
970	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	42
971		EXT022	Exotropia	42
972	c	CTS041	Cutis Laxa, Autosomal Dominant 3	42
973	c	SPN265	Spinocerebellar Ataxia 36	42
974	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	42
975		RFL002	Reflex Epilepsy	42
976		SCH037	Schinzel-Giedion Midface Retraction Syndrome	42
977		CDK006	Cdkl5 Deficiency Disorder	41
978	P	FML186	Familial Paroxysmal Nonkinesigenic Dyskinesia	41
979	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	41
980	P	CRN024	Corneal Disease	41
981	c	SCK010	Seckel Syndrome 4	41
982	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	41
983		MLT150	Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia	41
984	c	CHR086	Chronic Conjunctivitis	41
985		LWG006	Low Grade Glioma	41
986	c	PRK091	Parkinson Disease 4, Autosomal Dominant	41
987		KPR003	Keipert Syndrome	41
988		CRB081	Cerebellar Ataxia, Cayman Type	41
989		IFP002	Ifap Syndrome 1, with or Without Bresheck Syndrome	41
990	c	PRM032	Primary Congenital Glaucoma	41
991	c	FRN049	Frontometaphyseal Dysplasia 1	41
992		HMF008	Hemifacial Atrophy, Progressive	41
993		ANG004	Angioid Streaks	41
994		CHR661	Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction	41
995	c	SCK015	Seckel Syndrome 2	40
996		PLY110	Polymicrogyria, Bilateral Temporooccipital	40
997		HYP084	Hypopyon	40
998	c	ALP076	Alopecia-Mental Retardation Syndrome 1	40
999		LNS001	Lens Subluxation	40
1000	c	RBN008	Rubinstein-Taybi Syndrome 2	40
1001		FRY002	Fryns Syndrome	40
1002	c	JBR030	Joubert Syndrome 22	40
1003	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	40
1004	P	CRB045	Cerebellar Hypoplasia	40
1005	c	SPN103	Spinocerebellar Ataxia 31	40
1006	c	SCH079	Schizophrenia 1	40
1007		INT409	Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	40
1008		IDM001	Ideomotor Apraxia	40
1009	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	40
1010	P	CNG024	Congenital Nystagmus	40
1011	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	40
1012		BDY001	Body Dysmorphic Disorder	40
1013	c	HYP519	Hyperekplexia 3	39
1014	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	39
1015	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	39
1016	c	PRM212	Primary Microcephaly	39
1017	P	CNG629	Congenital Disorder of Deglycosylation 1	39
1018		TBL035	Tubulinopathy	39
1019	c	PRK090	Parkinson Disease 3, Autosomal Dominant	39
1020	c	CTR115	Cataract 16, Multiple Types	39
1021	c	JBR028	Joubert Syndrome 13	39
1022		48X003	48,xxyy Syndrome	39
1023	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	39
1024		CRT009	Critical Illness Polyneuropathy	39
1025	c	HYP510	Hyperekplexia 2	39
1026	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	39
1027	c	DVL103	Developmental and Epileptic Encephalopathy 80	39
1028		SCR011	Scrapie	38
1029	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	38
1030		SLT014	Salt and Pepper Developmental Regression Syndrome	38
1031		PRM056	Primrose Syndrome	38
1032	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	38
1033	c	FBR072	Febrile Seizures, Familial, 11	38
1034		CRN022	Corneal Degeneration	38
1035	c	MYS067	Myasthenic Syndrome, Congenital, 22	38
1036		GTP002	Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia	38
1037		MLN088	Malan Syndrome	38
1038		HYP026	Hypoglycemic Coma	38
1039		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	38
1040	P	UVS001	Uv-Sensitive Syndrome	38
1041	c	GLC083	Glaucoma 3, Primary Infantile, B	38
1042		DBT081	Diabetic Encephalopathy	38
1043	c	NGH008	Night Blindness, Congenital Stationary, Autosomal Dominant 3	38
1044	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	38
1045	P	SCH077	Schwannomatosis 1	38
1046	c	SCH056	Schizophrenia 15	38
1047		EHR002	Ehrlichiosis	38
1048	c	ERL056	Early-Onset Parkinson's Disease	38
1049	c	FBR069	Febrile Seizures, Familial, 4	37
1050		ARC023	Arcus Corneae	37
1051	c	EPL209	Epilepsy, Idiopathic Generalized 10	37
1052		CRN288	Corneal Dystrophy, Band-Shaped	37
1053		ANT019	Anterograde Amnesia	37
1054	c	ACT067	Acute Conjunctivitis	37
1055	c	SCK029	Seckel Syndrome 7	37
1056	P	PRR032	Pura-Related Neurodevelopmental Disorders	37
1057		INT042	Internuclear Ophthalmoplegia	37
1058		DYS001	Dyskinetic Cerebral Palsy	37
1059	P	THY054	Thyrotoxic Periodic Paralysis	37
1060	c	JBR021	Joubert Syndrome 18	37
1061	P	SCL013	Scleral Disease	37
1062	c	GLY043	Glycogen Storage Disease Xii	37
1063	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	37
1064		UVL008	Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability	37
1065	c	EPS033	Episodic Ataxia, Type 8	37
1066	c	SCK011	Seckel Syndrome 5	37
1067		SCR035	Sacral Agenesis with Vertebral Anomalies	37
1068		RCR001	Recurrent Corneal Erosion	37
1069		DGN002	Degenerative Myopia	36
1070		RHB002	Rhabdoid Meningioma	36
1071	P	SCL047	Sclerocornea	36
1072		SCR001	Secretory Meningioma	36
1073		CMB015	Combined Oxidative Phosphorylation Deficiency 4	36
1074		INT003	Intracranial Hypotension	36
1075	c	FRN048	Frontometaphyseal Dysplasia 2	36
1076		IDH005	Idh-Wildtype Glioblastoma	36
1077	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	36
1078	c	NGH021	Night Blindness, Congenital Stationary, Autosomal Dominant 1	36
1079		MLN009	Melanotic Neurilemmoma	36
1080		CHR079	Choroid Disease	36
1081	c	MCR109	Microphthalmia, Isolated 4	36
1082	c	ERL020	Early-Onset Schizophrenia	36
1083		CLR011	Clear Cell Ependymoma	36
1084	P	HYP700	Hypomyelinating Leukodystrophy	36
1085	c	GLY006	Glycogen Storage Disease Viii	36
1086	c	EPS037	Episodic Ataxia, Type 4	36
1087	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	36
1088		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	35
1089		ADM001	Adamantinous Craniopharyngioma	35
1090		CNJ007	Conjunctivochalasis	35
1091	c	PRK070	Parkinson Disease 21	35
1092	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	35
1093		CMP006	Complex Partial Epilepsy	35
1094	c	LFR009	Li-Fraumeni Syndrome 1	35
1095		RBS002	Rubeosis Iridis	35
1096		PKL002	Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis	35
1097		KLV001	Kluver-Bucy Syndrome	35
1098		HYD048	Hydrocephalus with Stenosis of the Aqueduct of Sylvius	35
1099	c	ANR050	Aneurysm, Intracranial Berry, 12	35
1100	c	TRM024	Tremor, Hereditary Essential, 1	35
1101		CRT078	Corticobasal Syndrome	35
1102	c	ATP003	Atp6v0a2-Related Cutis Laxa	35
1103	c	LFR007	Li-Fraumeni Syndrome 2	35
1104		CRB009	Cerebritis	35
1105		PNC012	Punctate Epithelial Keratoconjunctivitis	35
1106	c	HNT011	Huntington Disease-Like 3	35
1107	c	EPL155	Epilepsy, Progressive Myoclonic, 8	35
1108	c	CHR091	Chronic Meningitis	35
1109	c	CTS031	Cutis Laxa, Autosomal Dominant 2	35
1110	c	EPL133	Epilepsy, Juvenile Absence 1	35
1111	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	34
1112		ALZ030	Alazami Syndrome	34
1113		WLL004	Wallerian Degeneration	34
1114		PRT006	Partial Motor Epilepsy	34
1115		LMB069	Lamb-Shaffer Syndrome	34
1116	c	CTR122	Cataract 5, Multiple Types	34
1117	c	PNT052	Pontocerebellar Hypoplasia, Type 12	34
1118	c	RTT008	Rett Syndrome, Congenital Variant	34
1119		MLT105	Multiple System Atrophy, Cerebellar Type	34
1120	c	MYS064	Myasthenic Syndrome, Congenital, 16	34
1121	c	ANT023	Anterior Scleritis	34
1122	c	EPL134	Epilepsy, Progressive Myoclonic 7	34
1123		INT370	Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	34
1124		PPL019	Papillary Conjunctivitis	34
1125		CHR028	Chronic Wasting Disease	34
1126	c	RNG029	Ring Chromosome 14 Syndrome	34
1127	c	ISL165	Isolated Microphthalmia 3	34
1128	P	XLN255	X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders	34
1129		PST092	Posttransplant Acute Limbic Encephalitis	34
1130		RDG001	Red-Green Color Blindness	34
1131	P	SYN165	Syndromic Microphthalmia	34
1132	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	34
1133	P	SPS012	Spastic Paraplegia 3a	34
1134	c	SCH045	Schizophrenia 12	34
1135	c	PST008	Posterior Scleritis	34
1136		ANS004	Anisometropia	33
1137	c	ACT159	Acute Transverse Myelitis	33
1138		PLX004	Plexopathy	33
1139		NWF001	Newfoundland Rod-Cone Dystrophy	33
1140		PPL013	Papillary Ependymoma	33
1141	c	INF019	Infectious Anterior Uveitis	33
1142		CBB005	Cobblestone Lissencephaly	33
1143		MRT012	Martin-Probst Syndrome	33
1144	P	OVR096	Overlap Myositis	33
1145	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
1146	c	EPL096	Epilepsy, Nocturnal Frontal Lobe, 5	33
1147	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	33
1148		PRL013	Paralytic Poliomyelitis	33
1149		LRG003	Large Cell Medulloblastoma	33
1150	c	RNG008	Ring Chromosome 13	33
1151	c	THY084	Thyrotoxic Periodic Paralysis 1	33
1152	c	EPS015	Episodic Ataxia, Type 7	33
1153	c	THY083	Thyrotoxic Periodic Paralysis 2	33
1154	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	33
1155	c	JVN009	Juvenile Pilocytic Astrocytoma	33
1156	c	RNG023	Ring Chromosome 7	33
1157		CRN009	Corneal Ectasia	32
1158	c	AMY081	Amyotrophic Lateral Sclerosis Type 12	32
1159	c	CTR131	Cataract 17, Multiple Types	32
1160	P	SPC019	Specific Language Impairment	32
1161	c	FML350	Familial Febrile Seizures	32
1162	c	SCH075	Schizophrenia 19	32
1163		HRP025	Herpes Simplex Virus Keratitis	32
1164		NWN001	New-Onset Refractory Status Epilepticus	32
1165		ALT003	Alternating Exotropia	32
1166	c	RNG018	Ring Chromosome 22	32
1167		TYP026	Typical Congenital Nemaline Myopathy	32
1168	c	EPL086	Epilepsy, Idiopathic Generalized 9	32
1169	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	32
1170		SDN002	Sudanophilic Cerebral Sclerosis	32
1171	c	SCH051	Schizophrenia 4	32
1172	c	EPS014	Episodic Ataxia, Type 3	32
1173		IRR001	Irregular Astigmatism	32
1174		NNS061	Non-Syndromic Pontocerebellar Hypoplasia	32
1175	c	EPL009	Epilepsy Progressive Myoclonic Type 3	32
1176		CHL107	Childhood-Onset Nemaline Myopathy	32
1177	c	GLY017	Glycogen Storage Disease Ic	32
1178		CRN273	Corneal Dystrophy, Subepithelial Mucinous	32
1179	c	FBR073	Febrile Seizures, Familial, 1	32
1180		MNN006	Meninges Hemangiopericytoma	32
1181	c	TRM017	Tremor, Hereditary Essential, 4	31
1182	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	31
1183		BRC002	Brachial Plexus Neuritis	31
1184		FCL049	Focal Hand Dystonia	31
1185	c	SCK033	Seckel Syndrome 8	31
1186		MGL033	Megalocornea-Mental Retardation Syndrome	31
1187	P	VTR008	Vitreoretinal Degeneration	31
1188		RCH002	Richards-Rundle Syndrome	31
1189		ANT007	Anterior Horn Cell Disease	31
1190	c	EPL188	Epilepsy, Progressive Myoclonic, 10	31
1191	c	RNG017	Ring Chromosome 21	31
1192	c	SLV028	Silver-Russell Syndrome 3	31
1193	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	31
1194	c	PRR021	Perrault Syndrome 4	31
1195	c	CTS048	Cutis Laxa, Autosomal Recessive, Type Iie	31
1196	c	DRY002	Dry Beriberi	31
1197		MTC212	Mitchell Syndrome	31
1198		ANP032	Anaplastic Pleomorphic Xanthoastrocytoma	31
1199	c	SPS062	Spastic Paraplegia 34, X-Linked	31
1200		FBR001	Fibrous Meningioma	31
1201		TRN002	Transitional Meningioma	31
1202		TTR027	Tetrasomy 15q26	31
1203		VTR002	Vitreous Syneresis	30
1204		FCL003	Facial Hemiatrophy	30
1205		SPR168	Supratentorial Ependymoma	30
1206		LGH012	Leigh Syndrome with Leukodystrophy	30
1207	c	RTN057	Retinitis Pigmentosa 29	30
1208	c	ANN020	Anencephaly 1	30
1209	c	GLY023	Glycogen Storage Disease Type 0	30
1210	P	CRN249	Cornea Plana	30
1211		VRN001	Vernal Conjunctivitis	30
1212	c	RNG004	Ring Chromosome 1	30
1213	c	CTR175	Cataract 24	30
1214	c	EPL084	Epilepsy, Idiopathic Generalized 11	30
1215		EPL138	Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp	30
1216	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	30
1217	c	EPL165	Epilepsy, Idiopathic Generalized 14	30
1218		MRR003	Murray Valley Encephalitis	30
1219	P	TRC031	Trichorhinophalangeal Syndrome	30
1220	c	HLP021	Holoprosencephaly 6	30
1221		SPS134	Spasmodic Dystonia	30
1222	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	30
1223	c	MCR392	Microphthalmia, Syndromic 16	30
1224		MLT116	Multiple System Atrophy, Parkinsonian Type	30
1225	c	SCK032	Seckel Syndrome 6	30
1226		LTN022	Late-Onset Distal Myopathy, Markesbery-Griggs Type	30
1227		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	30
1228	c	CTR119	Cataract 32, Multiple Types	30
1229	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	30
1230	c	FRD006	Friedreich Ataxia 2	30
1231		ATM008	Autoimmune Disease of Eyes, Ear, Nose and Throat	30
1232	c	GLC115	Galactosemia Iv	30
1233	c	SCH087	Schizophrenia 18	29
1234	c	EPL091	Epilepsy, Idiopathic Generalized 3	29
1235		MNG007	Manganese Poisoning	29
1236		INT428	Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	29
1237	c	HRD186	Hereditary Spastic Paraplegia 51	29
1238	c	FBR074	Febrile Seizures, Familial, 6	29
1239	c	SPS170	Spastic Ataxia 2	29
1240	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	29
1241	c	SCH083	Schizophrenia 7	29
1242		RHM015	Rhombencephalosynapsis	29
1243	c	RNG022	Ring Chromosome 6	29
1244	c	RNG007	Ring Chromosome 12	29
1245	c	CTR141	Cataract 21, Multiple Types	29
1246		DSS005	Dissociated Nystagmus	29
1247	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	29
1248	c	SCH080	Schizophrenia 3	29
1249		CTN019	Cutaneous Polyarteritis Nodosa	29
1250		CRB017	Cerebral Falx Meningioma	29
1251		PHT002	Photokeratitis	29
1252		PRM004	Primary Amebic Meningoencephalitis	29
1253		RST024	Rosette-Forming Glioneuronal Tumor	29
1254		IRS003	Iris Disease	29
1255	c	RNG020	Ring Chromosome 4	28
1256		CRN128	Corneal Dystrophy, Endothelial, X-Linked	28
1257	c	EPL154	Epilepsy, Progressive Myoclonic, 9	28
1258	c	ALZ059	Alzheimer Disease 13	28
1259		ANS002	Aniseikonia	28
1260		OCL051	Ocular Tuberculosis	28
1261		DCR002	Dacryocystocele	28
1262		LCR001	Lacrimal Duct Obstruction	28
1263	c	DYS175	Dystonia 26, Myoclonic	28
1264	c	SCH064	Schizophrenia 10	28
1265	c	PRX091	Peroxisome Biogenesis Disorder 8a	28
1266	c	TRM022	Tremor, Hereditary Essential, 5	28
1267	c	TRM020	Tremor, Hereditary Essential, 2	28
1268	c	JVN015	Juvenile Huntington Disease	28
1269	c	SPN421	Spinocerebellar Ataxia 47	28
1270	c	ERL003	Early Onset Absence Epilepsy	28
1271		PNP001	Panophthalmitis	28
1272	c	SCH052	Schizophrenia 14	28
1273		SLR002	Solar Retinopathy	28
1274		IDP062	Idiopathic Syringomyelia	28
1275	c	SHW007	Shwachman-Diamond Syndrome 2	28
1276	c	RNG024	Ring Chromosome 8	28
1277		HYP047	Hypertropia	28
1278		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	28
1279	c	CHR026	Charcot-Marie-Tooth Disease Type X	28
1280		NSY001	N Syndrome	28
1281	c	RNG005	Ring Chromosome 10	28
1282		LST003	Listeria Meningitis	28
1283		MCR326	Microcephaly-Micromelia Syndrome	28
1284	c	MYC086	Myoclonic Epilepsy, Juvenile 4	28
1285		OPH015	Ophn1 Syndrome	28
1286	c	GLY093	Glycogen Storage Disease Ixa	28
1287	c	ANR047	Aniridia 2	28
1288	c	LKD028	Leukodystrophy, Hypomyelinating, 15	28
1289	c	SCH061	Schizophrenia 16	28
1290		STR086	Stromal Dystrophy	28
1291		TRG019	Trigonocephaly with Short Stature and Developmental Delay	28
1292	c	BLT007	Bilateral Frontal Polymicrogyria	28
1293	P	MCR327	Microcephaly, Short Stature, and Limb Abnormalities	28
1294	P	NNT006	Neonatal Myasthenia Gravis	28
1295		OCC011	Occipital Encephalocele	27
1296	c	UVS005	Uv-Sensitive Syndrome 1	27
1297	c	SCH085	Schizophrenia 2	27
1298		INT053	Intracranial Vasospasm	27
1299	c	MYC068	Myoclonic Epilepsy of Infancy	27
1300	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	27
1301		VST003	Vestibular Nystagmus	27
1302		RMN002	Ramon Syndrome	27
1303	c	PRK083	Parkinson Disease 22, Autosomal Dominant	27
1304	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	27
1305	c	MYS056	Myasthenic Syndrome, Congenital, 17	27
1306	c	MYM004	Moyamoya Disease 2	27
1307	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	27
1308		FCL007	Facial Neuralgia	27
1309	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	27
1310		ART110	Arteritic Anterior Ischemic Optic Neuropathy	27
1311	c	SCH053	Schizophrenia 13	27
1312	c	SLV029	Silver-Russell Syndrome 2	27
1313		SBD001	Subdural Empyema	27
1314	c	EPS048	Episodic Ataxia, Type 9	27
1315	c	MSM025	Mismatch Repair Cancer Syndrome 4	27
1316	c	JBR044	Joubert Syndrome 31	27
1317		HTR001	Heterophyiasis	27
1318		IGG013	Igg4-Related Pachymeningitis	27
1319	c	FBR071	Febrile Seizures, Familial, 5	27
1320	P	RNG032	Ring Chromosome	27
1321	c	SPS171	Spastic Ataxia 5	27
1322	c	PRK098	Parkinson Disease 5, Autosomal Dominant	27
1323	P	ACT241	Acute Bilirubin Encephalopathy	27
1324	P	AST059	Astrocytoma, Idh-Mutant, Grade 4	26
1325	P	CNG539	Congenital Disorder of Glycosylation with Defective Fucosylation 1	26
1326	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	26
1327		PHC001	Phacolytic Glaucoma	26
1328		MSC185	Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue	26
1329	c	CTR116	Cataract 15, Multiple Types	26
1330		ANS018	Anismus	26
1331	c	EPS013	Episodic Kinesigenic Dyskinesia 2	26
1332	c	EPL089	Epilepsy, Idiopathic Generalized 4	26
1333	c	RNG013	Ring Chromosome 18	26
1334		ACT065	Acute Hemorrhagic Encephalitis	26
1335	c	DVL104	Developmental and Epileptic Encephalopathy 81	26
1336	c	RST020	Restless Legs Syndrome 6	26
1337	c	ANT087	Anterior Segment Dysgenesis 6	26
1338		CHR055	Chordoid Meningioma	26
1339		ALG001	Algoneurodystrophy	26
1340	c	RTN068	Retinitis Pigmentosa 6	26
1341		TRN011	Transient Refractive Change	26
1342		NN2002	Non 24 Hour Sleep Wake Disorder	26
1343	c	VNT024	Ventricular Septal Defect 3	26
1344	c	EPL261	Epilepsy, X-Linked 1, with Variable Learning Disabilities and Behavior Disorders	26
1345	c	FBR067	Febrile Seizures, Familial, 9	26
1346		GLY094	Glycine Encephalopathy with Normal Serum Glycine	26
1347		CVR001	Cavernous Sinus Meningioma	26
1348		PSD004	Pseudomembranous Conjunctivitis	26
1349	c	ALZ014	Alzheimer Disease 16	26
1350	c	CHD006	Chd2-Related Neurodevelopmental Disorders	26
1351	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	26
1352	c	SCH084	Schizophrenia 8	26
1353		CRN268	Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis	26
1354	c	PRK099	Parkinson Disease 18, Autosomal Dominant	26
1355	c	SCH081	Schizophrenia 6	26
1356	c	EPL093	Epilepsy, Idiopathic Generalized 7	26
1357	c	TRM029	Tremor, Hereditary Essential, 6	26
1358		EXP002	Exposure Keratitis	26
1359	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	25
1360		CHL162	Childhood Astrocytic Tumor	25
1361		MNT256	Mental Retardation, Buenos Aires Type	25
1362		HYP690	Hyper-Beta-Alaninemia	25
1363		FLM001	Filamentary Keratitis	25
1364	c	RTS005	Ritscher-Schinzel Syndrome 4	25
1365	P	FRM004	Foramen Magnum Meningioma	25
1366	c	CRN280	Cornea Plana 2, Autosomal Recessive	25
1367		MCR001	Microcystic Meningioma	25
1368	P	BLT016	Bilateral Polymicrogyria	25
1369	c	DYS185	Dystonia 13, Torsion, Autosomal Dominant	25
1370		CHL182	Childhood Supratentorial Ependymoma	25
1371	c	DYS212	Dystonia 30	25
1372		HMD003	Hemidystonia	25
1373	c	RTN053	Retinitis Pigmentosa 24	25
1374		OCC008	Occipital Neuralgia	25
1375		UNL005	Unilateral Polymicrogyria	25
1376		FRL002	Froelich Syndrome	25
1377	c	CNG630	Congenital Disorder of Deglycosylation 2	25
1378	c	RNG010	Ring Chromosome 15	25
1379	c	ATS358	Autism X-Linked 6	25
1380	c	RNG016	Ring Chromosome 20	25
1381	c	CNG541	Congenital Disorder of Glycosylation with Defective Fucosylation 2	25
1382		ARG003	Argyll Robertson Pupil	25
1383	c	SCH073	Schizophrenia 9	25
1384		CHL058	Childhood Electroclinical Syndrome	25
1385		PSM001	Psammomatous Meningioma	25
1386		PLC004	Pilocytic Astrocytoma of Cerebellum	25
1387		NDL011	Nodular Ganglioneuroblastoma	25
1388	P	PPL023	Pupil Disease	24
1389	c	MYM003	Moyamoya Disease 5	24
1390	c	STR092	Striatal Degeneration, Autosomal Dominant 2	24
1391	c	SCK037	Seckel Syndrome 9	24
1392		PRS053	Parsonage Turner Syndrome	24
1393	c	PRK094	Parkinson Disease 11, Autosomal Dominant	24
1394	c	PRK096	Parkinson Disease 13, Autosomal Dominant	24
1395	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	24
1396	c	SCK038	Seckel Syndrome 10	24
1397		ADG002	Audiogenic Seizures	24
1398	c	JBR047	Joubert Syndrome 35	24
1399	c	GLC054	Glaucoma 3, Primary Congenital, D	24
1400	c	HRD210	Hereditary Spastic Paraplegia 23	24
1401	c	ADL068	Adult-Onset Nemaline Myopathy	24
1402	P	MYM016	Moyamoya Angiopathy	24
1403	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	24
1404	c	SLV031	Silver-Russell Syndrome 5	24
1405		LMB001	Lumbosacral Plexus Lesion	24
1406	c	JBR038	Joubert Syndrome 27	24
1407		CHL168	Childhood Ependymoma	24
1408	c	CRB221	Cerebellar Ataxia Type 48	24
1409		PRL014	Paralytic Squint	24
1410	c	HRD212	Hereditary Episodic Ataxia	24
1411		HYP638	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	24
1412	c	TRS027	Torsion Dystonia 4	24
1413	c	RNG006	Ring Chromosome 11	24
1414		DYS188	Dyskinesia, Limb and Orofacial, Infantile-Onset	24
1415	c	JVN058	Juvenile-Onset Parkinson's Disease	24
1416		CG5002	Cog5-Congenital Disorder of Glycosylation	24
1417		STR002	Streptococcal Meningitis	24
1418		ACC003	Accommodative Esotropia	24
1419	c	RTN051	Retinitis Pigmentosa 22	24
1420	c	SCH082	Schizophrenia 5	24
1421		FTL045	Fatal Infantile Hypertonic Myofibrillar Myopathy	24
1422		GNT042	Genetic Recurrent Myoglobinuria	24
1423	c	JBR050	Joubert Syndrome 38	24
1424	c	SPS214	Spastic Ataxia 4	24
1425	c	DNC008	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	24
1426		BRT061	Buratti-Harel Syndrome	24
1427	c	AMY089	Amyotrophic Lateral Sclerosis 7	24
1428		CMB063	Combined Oxidative Phosphorylation Deficiency 25	24
1429	c	ENC064	Encephalopathy, Acute, Infection-Induced 8	24
1430	c	RNG015	Ring Chromosome 2	23
1431	c	MTC204	Mitochondrial Dna Depletion Syndrome 18	23
1432		LWR016	Lowry-Maclean Syndrome	23
1433		ANG009	Angiomatous Meningioma	23
1434		SCH031	Scholte Syndrome	23
1435		PSY017	Psychogenic Movement Disorders	23
1436	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	23
1437	c	MSM024	Mismatch Repair Cancer Syndrome 3	23
1438		SPS236	Spastic Tetraplegia and Axial Hypotonia, Progressive	23
1439		HMC036	Homocystinuria Without Methylmalonic Aciduria	23
1440	c	MCR217	Microphthalmia, Syndromic 11	23
1441	c	SCH088	Schwannomatosis 2	23
1442		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	23
1443		PNG001	Pinguecula	23
1444	c	GLY001	Glycogen Storage Disease Ix	23
1445	c	CTR158	Cataract 37	23
1446	c	MTC236	Mitochondrial Dna Depletion Syndrome 20	23
1447	c	CHR060	Chronic Dacryocystitis	23
1448	c	CHR094	Chronic Polyneuropathy	23
1449	c	CRB209	Cerebellar Malformation	23
1450	P	ISL020	Isolated Microphthalmia	23
1451	c	JBR048	Joubert Syndrome 36	23
1452	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	23
1453	c	MLT094	Multiple Sclerosis 3	23
1454	c	RNG019	Ring Chromosome 3	23
1455	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
1456		NNT041	Neonatal Period Electroclinical Syndrome	23
1457		CRB144	Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	23
1458		ADL051	Adolescence-Adult Electroclinical Syndrome	23
1459		CRB018	Cerebral Lipidosis	23
1460		ATY034	Atypical Juvenile Parkinsonism	23
1461		DYT003	Dyt-Gnal	23
1462		SCL014	Scleral Staphyloma	23
1463		PRK107	Parkinsonism-Dystonia 3, Childhood-Onset	23
1464	c	MYC085	Myoclonic Epilepsy, Juvenile 3	23
1465		PST056	Postural Tachycardia Syndrome	23
1466		SMP001	Simple Partial Epilepsy	22
1467	c	RNG025	Ring Chromosome 9	22
1468	c	FBR076	Febrile Seizures, Familial, 7	22
1469	c	SPS163	Spastic Ataxia 3	22
1470		CRN156	Craniofacioskeletal Syndrome	22
1471	c	ALZ060	Alzheimer Disease 14	22
1472		LFR008	L-Ferritin Deficiency	22
1473	c	RNG021	Ring Chromosome 5	22
1474	c	EPL092	Epilepsy, Idiopathic Generalized 2	22
1475	c	CTR184	Cataract 39, Multiple Types	22
1476	c	ALZ031	Alzheimer Disease 17	22
1477	c	ATS438	Autosomal Recessive Spastic Ataxia	22
1478	c	MSM023	Mismatch Repair Cancer Syndrome 2	22
1479		INT058	Intraorbital Meningioma	22
1480	c	MTC182	Mitochondrial Dna Depletion Syndrome 16	22
1481		MYP154	Myopathy, Congenital, with Fast-Twitch Fiber Atrophy	22
1482	c	UVS003	Uv-Sensitive Syndrome 3	22
1483	c	CTR110	Cataract 26, Multiple Types	22
1484		MCR274	Microcephalic Primordial Dwarfism, Montreal Type	22
1485		ABN003	Abnormal Threshold of Rods	22
1486		LTR007	Lateral Ventricle Meningioma	22
1487	c	EPL210	Epilepsy, Progressive Myoclonic, 6	22
1488	c	CRB217	Cerebellar Ataxia Type 42	22
1489		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	22
1490		PRF002	Perforated Corneal Ulcer	22
1491	c	PRG143	Progressive Myoclonus Epilepsy 7	22
1492	c	ENC070	Encephalopathy, Acute, Infection-Induced 9	22
1493	c	ACT037	Acute Dacryocystitis	22
1494		LNG104	Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia	22
1495	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	22
1496		PHL001	Phlyctenulosis	22
1497	c	RNG012	Ring Chromosome 17	22
1498	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	22
1499	c	SPS233	Spastic Ataxia 9, Autosomal Recessive	22
1500		CRN076	Crane-Heise Syndrome	22
1501		CRB032	Cerebral Convexity Meningioma	22
1502	c	GLC089	Glaucoma 3, Primary Congenital, E	22
1503		CHR507	Chromosome Xq27.3-Q28 Duplication Syndrome	22
1504		NPH064	Nipah Virus Disease	21
1505	c	MTC213	Mitochondrial Dna Depletion Syndrome 19	21
1506	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	21
1507	c	EPL217	Epilepsy, Juvenile Myoclonic 10	21
1508		CHR051	Chorea Gravidarum	21
1509	c	MGR036	Migraine with or Without Aura 2	21
1510	c	HLP022	Holoprosencephaly 8	21
1511		9Q3002	9q33.3q34.11 Microdeletion Syndrome	21
1512	c	ANG059	Angelman Syndrome Due to Imprinting Defect in 15q11-Q13	21
1513	P	CRB095	Cerebral Palsy, Spastic Quadriplegic, 3	21
1514	c	CTR160	Cataract 45	21
1515	c	ERL063	Early-Onset Isolated Dystonia	21
1516		INF033	Infancy Electroclinical Syndrome	21
1517		PRT032	Partial Central Choroid Dystrophy	21
1518		SPN015	Spinal Polio	21
1519		PRN018	Paraneoplastic Polyneuropathy	21
1520		SPR019	Superficial Keratitis	21
1521	c	CTR178	Cataract 27	21
1522	c	SCH086	Schizophrenia 11	21
1523		CRN007	Corneal Staphyloma	21
1524	c	PRK104	Parkinson Disease 24, Autosomal Dominant	21
1525		NCL001	Nuclear Senile Cataract	21
1526		NNP002	Nonparalytic Poliomyelitis	21
1527	c	NGH022	Night Blindness, Congenital Stationary, Type 1g	21
1528	P	CTS012	Cutis Verticis Gyrata	21
1529	c	PRG146	Progressive Myoclonus Epilepsy 9	21
1530	c	ZKV002	Zika Virus Congenital Syndrome	21
1531	c	TRN062	Transient Neonatal Myasthenia Gravis	21
1532	P	USM001	Usmani-Riazuddin Syndrome, Autosomal Dominant	21
1533	c	ADL071	Adult Krabbe Disease	21
1534	c	DYS223	Dystonia 28	21
1535		CLV003	Clivus Meningioma	20
1536	c	CTR128	Cataract 33	20
1537		SPN092	Spinal Shock	20
1538		7P2001	7p22.1 Microduplication Syndrome	20
1539	c	MLT093	Multiple Sclerosis 2	20
1540	c	MTC200	Mitochondrial Dna Depletion Syndrome 17	20
1541		BNG077	Benign Idiopathic Neonatal Seizures	20
1542		GLF001	Gliofibroma	20
1543		BSL005	Basal Ganglia Cerebrovascular Disease	20
1544		DSS001	Disseminated Chorioretinitis	20
1545	c	ANR046	Aniridia 3	20
1546	c	SLV030	Silver-Russell Syndrome 4	20
1547	c	ENC072	Encephalopathy, Acute, Infection-Induced 10	20
1548	c	LKD037	Leukodystrophy, Hypomyelinating, 24	20
1549		PLY088	Polyvalvular Heart Disease Syndrome	20
1550		MLT132	Multifocal Dystonia	20
1551	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	20
1552	c	TRM016	Tremor, Hereditary Essential, 3	20
1553	c	ACQ027	Acquired Cutis Laxa	20
1554		KT6003	Kat6b-Related Multiple Congenital Anomalies Syndrome	20
1555	c	HYD070	Hydrocephalus, Congenital Communicating, 1	20
1556		MXD001	Mixed Cerebral Palsy	20
1557	c	PRK025	Parkinson Disease 10	20
1558	P	ISL135	Isolated Dystonia	20
1559	c	ANN021	Anencephaly 2	20
1560		MNN016	Mononeuritis of Upper Limb and Mononeuritis Multiplex	20
1561	c	PRK058	Parkinson Disease 16	20
1562		IDP067	Idiopathic Hemiconvulsion-Hemiplegia Syndrome	19
1563	c	RNG011	Ring Chromosome 16	19
1564	c	SPC027	Specific Language Impairment 1	19
1565	c	CRN279	Cornea Plana 1, Autosomal Dominant	19
1566		PSD006	Pseudopterygium	19
1567		VTR001	Vitreoretinal Dystrophy	19
1568	c	RTN063	Retinitis Pigmentosa 34	19
1569	c	INF152	Infectious Posterior Uveitis	19
1570	c	RNG014	Ring Chromosome 19	19
1571		CRN023	Corneal Deposit	19
1572	c	EPL247	Epilepsy, Idiopathic Generalized 16	19
1573		RGL001	Regular Astigmatism	19
1574	c	LTB003	Ltbp4-Related Cutis Laxa	19
1575		CRV063	Cervical Spina Bifida Aperta	19
1576	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	19
1577	c	HNT013	Huntington Disease-Like Syndrome	19
1578		ART113	Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability	19
1579	c	SPC023	Specific Language Impairment 5	19
1580	c	UVS004	Uv-Sensitive Syndrome 2	19
1581		CRB015	Cerebellar Angioblastoma	19
1582		PST109	Postinfectious Encephalitis	19
1583	c	GLC032	Glaucoma, Hereditary	19
1584		CHR706	Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	19
1585	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	19
1586		CHR043	Chronic Inflammatory Demyelinating Polyneuritis	19
1587	c	MGR033	Migraine with or Without Aura 6	19
1588		FRY007	Fryns Macrocephaly	19
1589		MLT155	Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	19
1590		SKL031	Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	19
1591		FLN005	Folinic Acid-Responsive Seizures	19
1592		NRN022	Neurenteric Cyst	19
1593	c	FBR068	Febrile Seizures, Familial, 10	19
1594	c	MCR108	Microphthalmia, Isolated 7	19
1595		RSD002	Residual Stage of Open Angle Glaucoma	19
1596		SPN113	Spinocerebellar Ataxia with Dysmorphism	19
1597	c	EPL260	Epilepsy, Idiopathic Generalized 18	19
1598	c	PRX024	Paroxysmal Nonkinesigenic Dyskinesia 2	19
1599		CRN225	Cranio-Facial Dystonia	18
1600		FCL013	Focal Chorioretinitis	18
1601		HST005	Histoplasmosis Meningitis	18
1602	c	CNT026	Central Corneal Ulcer	18
1603	c	LSS044	Lissencephaly 6	18
1604	c	ATS461	Autosomal Dominant Cerebellar Ataxia Type I	18
1605	P	CNG515	Congenital Zika Syndrome	18
1606		OPH003	Ophthalmia Nodosa	18
1607		ISL155	Isolated Anencephaly	18
1608		JGL001	Jugular Foramen Meningioma	18
1609		DBL001	Double Pterygium	18
1610		LTH036	Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome	18
1611	P	BMN001	Biemond Syndrome	18
1612		CHR053	Chronic Follicular Conjunctivitis	18
1613	c	FBL003	Fbln5-Related Cutis Laxa	18
1614	c	MGR042	Migraine with or Without Aura 13	18
1615		DPK001	Deep Keratitis	18
1616	c	MGR023	Migraine Without Aura 4	18
1617		PRM139	Primary Melanoma of the Central Nervous System	18
1618	c	RNG031	Ring Chromosome Y Syndrome	18
1619	c	CRB220	Cerebellar Ataxia Type 43	18
1620	c	MGR022	Migraine with or Without Aura 3	18
1621		UPP007	Upper Thoracic Spina Bifida Cystica	18
1622		CRV061	Cervicothoracic Spina Bifida Cystica	18
1623		UPP008	Upper Thoracic Spina Bifida Aperta	18
1624	c	RTN206	Retinitis Pigmentosa, Late-Adult Onset	18
1625	c	GLY116	Glycosylphosphatidylinositol Biosynthesis Defect 25	18
1626	c	SPS229	Spastic Ataxia 8	18
1627		BNG078	Benign Paroxysmal Torticollis of Infancy	18
1628		3P2001	3p25.3 Microdeletion Syndrome	18
1629	c	MLT095	Multiple Sclerosis 4	18
1630	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	17
1631		MCR042	Microbrachycephaly Ptosis Cleft Lip	17
1632		CMP066	Complement Component 8 Deficiency	17
1633	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	17
1634	c	SCN003	Secondary Corneal Edema	17
1635	c	MCH013	Machado-Joseph Disease Type 3	17
1636	c	SM1001	Sim1-Related Prader-Willi-Like Syndrome	17
1637	c	MGR024	Migraine with or Without Aura 5	17
1638	c	MCH014	Machado-Joseph Disease Type 2	17
1639		ABN004	Abnormal Pupillary Function	17
1640		IDP006	Idiopathic Corneal Edema	17
1641	c	CHR692	Chronic Encephalitis	17
1642		INT008	Intermittent Squint	17
1643	c	CRB222	Cerebellar Ataxia Type 9	17
1644		CNJ011	Conjunctival Deposit	17
1645		RLN004	Rolandic Epilepsy-Speech Dyspraxia Syndrome	17
1646	c	EPL074	Epilepsy, Hot Water, 1	17
1647	c	ATS462	Autosomal Dominant Cerebellar Ataxia Type Iii	17
1648		CHL098	Childhood Myocerebrohepatopathy Spectrum	17
1649		HYD055	Hydroxylysinuria	17
1650	c	SPS162	Spastic Ataxia 1	17
1651	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	17
1652		MRF018	Marfanoid Habitus with Microcephaly and Glomerulonephritis	17
1653		PRX084	Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia	17
1654	P	HTW002	Hot Water Epilepsy	17
1655		VNB001	Van Benthem-Driessen-Hanveld Syndrome	17
1656	P	CNG348	Congenital Sialidosis Type 2	17
1657		EPT023	Epithelial and Subepithelial Dystrophy	17
1658		CNJ002	Conjunctival Folliculosis	17
1659		EPP005	Epiphyseal Dysplasia Hearing Loss Dysmorphism	17
1660		CRM010	Cramp-Fasciculation Syndrome	16
1661		CTR171	Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome	16
1662	c	PRG148	Progressive Myoclonus Epilepsy 1a	16
1663	c	CNG433	Congenital Cornea Plana	16
1664		THY131	Thyrotoxic Myopathy	16
1665	c	ACT030	Acute Dacryoadenitis	16
1666		FNG010	Fingerprint Body Myopathy	16
1667		PRG115	Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome	16
1668	c	GRN052	Grin2b-Related Neurodevelopmental Disorder	16
1669		MNN024	Meningitis and Encephalitis	16
1670		1P2001	1p21.3 Microdeletion Syndrome	16
1671		EPT024	Epithelial-Stromal Tgfbi Dystrophy	16
1672	c	PRK022	Parkinson Disease 12	16
1673		MYC004	Mycotic Corneal Ulcer	16
1674		SPS006	Spastic Monoplegia	16
1675		CHR189	Chromosome 12p Deletion	16
1676		INF053	Infantile Spasms Broad Thumbs	16
1677	c	MGR040	Migraine with or Without Aura 12	16
1678		PLY127	Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	16
1679	c	CHR035	Chronic Dacryoadenitis	16
1680		BNG011	Benign Shuddering Attacks	16
1681	c	SPC028	Specific Language Impairment 2	16
1682	c	EPL090	Epilepsy, Idiopathic Generalized 5	16
1683	c	LTN017	Late-Infantile/juvenile Krabbe Disease	16
1684		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	16
1685	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	16
1686	c	SYN077	Syndromic X-Linked Intellectual Disability 12	16
1687		EXP003	Exophthalmic Ophthalmoplegia	16
1688		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	16
1689		HLL006	Halal Setton Wang Syndrome	16
1690	c	LMN017	Lmnb1-Related Autosomal Dominant Leukodystrophy	16
1691	c	ANR028	Aneurysm, Intracranial Berry, 3	16
1692	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	15
1693		16P011	16p12.1p12.3 Triplication Syndrome	15
1694	c	MGR038	Migraine with or Without Aura 10	15
1695	c	MTC014	Mitochondrial Dna Deletion Syndromes	15
1696		MLT154	Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type	15
1697	c	PST110	Posterior Corneal Dystrophy	15
1698		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	15
1699		INF139	Infantile Choroidocerebral Calcification Syndrome	15
1700	c	CRB218	Cerebellar Ataxia Type 47	15
1701	c	MGR037	Migraine with or Without Aura 8	15
1702		DST102	Distal Nebulin Myopathy	15
1703		APR008	Aprosencephaly and Cerebellar Dysgenesis	15
1704	c	EPL186	Epilepsy, Juvenile Myoclonic 9	15
1705		PHR010	Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome	15
1706		KNJ001	Kunjin Encephalitis	15
1707		TRG013	Trigeminal Autonomic Cephalalgia	15
1708	c	TBB006	Tubb4a-Related Leukodystrophy	15
1709		ANT040	Anton's Syndrome	15
1710	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	15
1711	c	ANG058	Angelman Syndrome Due to a Point Mutation	15
1712	c	SPR166	Sporadic Fatal Insomnia	15
1713		HMD002	Hemidystonia-Hemiatrophy Syndrome	15
1714	c	HNT014	Huntington Disease-Like Syndrome Due to C9orf72 Expansions	15
1715	c	MGR039	Migraine with or Without Aura 11	15
1716	c	SCN087	Scn3a-Related Neurodevelopmental Disorder	15
1717		XQ1001	Xq12-Q13.3 Duplication Syndrome	15
1718		CLF019	Cleft Palate Short Stature Vertebral Anomalies	15
1719		ACQ003	Acquired Tear Duct Stenosis	14
1720		TRC112	Trochlea of the Humerus, Aplasia of	14
1721		20Q002	20q11.2 Microduplication Syndrome	14
1722		EPL095	Epilepsy with Myoclonic Absences	14
1723		CNG472	Congenital Insensitivity to Pain with Severe Intellectual Disability	14
1724		MDL031	Medulloblastoma Shh Activated	14
1725	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	14
1726	c	CRB219	Cerebellar Ataxia Type 41	14
1727		CHR152	Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism	14
1728		CMB094	Combined Dystonia	14
1729	c	PX6002	Pax6-Related Aniridia	14
1730	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	14
1731		MDL032	Medulloblastoma Shh Activated and Tp53 Mutant	14
1732	c	RST016	Restless Legs Syndrome 7	14
1733		VTR004	Vitreous Abscess	14
1734	P	RTN200	Retinopathy, Pericentral Pigmentary, Dominant	14
1735		MNN015	Mononeuritis of Lower Limb	14
1736		ALT004	Alternating Esotropia	14
1737	c	ANR011	Aneurysm, Intracranial Berry, 2	14
1738		STR070	Startle Epilepsy	14
1739	c	GLC052	Glaucoma 3, Primary Congenital, C	14
1740	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	14
1741		9Q3001	9q31.1q31.3 Microdeletion Syndrome	14
1742	c	ATS470	Autosomal Dominant Pure Spastic Paraplegia	14
1743		PNF002	Painful Legs and Moving Toes Syndrome	14
1744		CNJ010	Conjunctival Degeneration	14
1745	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	14
1746	c	SCN066	Secondary Erythromelalgia	14
1747		SPS045	Spastic Paraplegia Facial Cutaneous Lesions	14
1748		ATS233	Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	14
1749	c	PRG147	Progressive Myoclonus Epilepsy 8	14
1750	c	ART171	Arthrogryposis Multiplex Congenita-3	14
1751	c	ELN002	Eln-Related Cutis Laxa	14
1752		MCR285	Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	14
1753	c	PRG144	Progressive Myoclonus Epilepsy 1b	14
1754		SPP006	Suppurative Uveitis	13
1755		BLL005	Bullous Retinoschisis	13
1756		MCR299	Microlissencephaly-Micromelia Syndrome	13
1757		BNG075	Benign Samaritan Congenital Myopathy	13
1758		MCR367	Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	13
1759	c	EFM001	Efemp2-Related Cutis Laxa	13
1760		TPT004	Tapetoretinal Degeneration with Ataxia	13
1761	P	ALP110	Alopecia-Mental Retardation Syndrome	13
1762	c	ANR022	Aneurysm, Intracranial Berry, 4	13
1763		ACQ033	Acquired Aneurysmal Subarachnoid Hemorrhage	13
1764		CHL009	Childhood Cerebral Astrocytoma	13
1765	c	ART170	Arthrogryposis Multiplex Congenita-1	13
1766	c	HYD042	Hydrocephalus, Autosomal Dominant	13
1767		RTN102	Retinitis Pigmentosa, Y-Linked	13
1768		GLB019	Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	13
1769		SVR093	Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	13
1770		MRG002	Marginal Corneal Ulcer	13
1771		XLN145	X-Linked Intellectual Disability, Pai Type	13
1772	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	13
1773		CTH001	Cathepsin a-Related Arteriopathy-Strokes-Leukoencephalopathy	13
1774	P	ANT012	Anterior Dislocation of Lens	13
1775	c	NTC002	Notch3-Related Lateral Meningocele Syndrome	13
1776	c	ANR024	Aneurysm, Intracranial Berry, 9	13
1777		CRT077	Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	13
1778	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	13
1779		ATY052	Atypical Timothy Syndrome	13
1780	P	VTM031	Vitamin B12 Plasma Level Quantitative Trait Locus 1	13
1781		GNT189	Genetic Prion Disease	13
1782	c	VPS003	Vps35-Related Parkinson Disease	12
1783	c	CNG253	Congenital Communicating Hydrocephalus	12
1784	c	ANR030	Aneurysm, Intracranial Berry, 8	12
1785	c	ANR023	Aneurysm, Intracranial Berry, 7	12
1786		DYS158	Dystonia-Aphonia Syndrome	12
1787		EVR001	Eversion of Lacrimal Punctum	12
1788		RBL002	Rubella Panencephalitis	12
1789		MLL015	Mills Syndrome	12
1790		DLY009	Delayed Encephalopathy Due to Carbon Monoxide Poisoning	12
1791	c	THY119	Thyrotoxic Periodic Paralysis 3	12
1792		CYN006	Cyanide-Induced Parkinsonism-Dystonia	12
1793		INT228	Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	12
1794	c	MYM005	Moyamoya Disease 3	12
1795		STN003	Stenosis of Lacrimal Passage	12
1796	c	ANR026	Aneurysm, Intracranial Berry, 5	12
1797		SPS184	Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome	12
1798		LRY045	Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	12
1799	c	PRM188	Primary Cutis Verticis Gyrata	12
1800	c	ATS460	Autosomal Recessive Congenital Cerebellar Ataxia	12
1801		PRT138	Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	12
1802		CNG459	Congenital Myopathy with Myasthenic-Like Onset	12
1803		IDP079	Idiopathic Dropped Head Syndrome	12
1804		ATS074	Autosomal Recessive Ataxia Due to Pex10 Deficiency	12
1805	c	ART172	Arthrogryposis Multiplex Congenita-4	12
1806		CRB013	Cerebellar Vermis Medulloblastoma	12
1807		SCL041	Sclerosing Perineurioma	12
1808		XLN142	X-Linked Intellectual Disability, Stevenson Type	12
1809		CNG516	Congenital Cervical Spinal Stenosis	12
1810	c	MGR025	Migraine with Aura 7	12
1811	c	SPC015	Specific Language Impairment 4	12
1812		SYP002	Syphilitic Encephalitis	12
1813		HYP062	Hypopyon Ulcer	11
1814	c	ANR039	Aneurysm, Intracranial Berry, 11	11
1815		PRP108	Paraparetic Variant of Guillain-Barre Syndrome	11
1816		XLN101	X-Linked Complex Spastic Paraplegia	11
1817	c	MGR027	Migraine with Aura 9	11
1818		CRN002	Corneal Argyrosis	11
1819	c	SPC029	Specific Language Impairment 3	11
1820	c	GNB002	Gnb5-Related Neurodevelopmental Disorder	11
1821	c	DYS225	Dyskeratosis Congenita, Autosomal Recessive 8	11
1822		FNG013	Fungal Myositis	11
1823		CHL160	Childhood-Onset Steinert Myotonic Dystrophy	11
1824		HTR024	Htra1-Related Cerebral Small Vessel Disease	11
1825	c	EPL075	Epilepsy, Hot Water, 2	11
1826		SBC038	Sub-Cortical Nodular Heterotopia	11
1827	c	ATS431	Autosomal Recessive Distal Myopathy	11
1828	c	HNR003	Hnrnpu-Related Neurodevelopmental Disorder	11
1829		MDL033	Medulloblastoma Shh Activated and Tp53 Wild-Type	11
1830		PRG076	Progressive Cavitating Leukoencephalopathy	11
1831	c	ISL040	Isolated Focal Cortical Dysplasia Type Ia	10
1832	c	PRM185	Primary Essential Cutis Verticis Gyrata	10
1833		SPL071	Split Cord Malformation Type Ii	10
1834		GLB013	Glioblastoma Mesenchymal Subtype	10
1835	c	GRN056	Grin1-Related Neurodevelopmental Disorder	10
1836		CRY020	Cryptogenic Late-Onset Epileptic Spasms	10
1837	c	CHR061	Chronic Canaliculitis	10
1838	c	HNR004	Hnrnph2-Related Neurodevelopmental Disorder	10
1839	c	CHR689	Chronic Polyradiculoneuropathy	10
1840		HST002	Histoplasmosis Retinitis	10
1841		PRM376	Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	10
1842	c	ACQ069	Acquired Human Prion Disease	10
1843	c	ATN031	Atn1-Related Neurodevelopmental Disorder	10
1844		XLN207	X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome	10
1845		MYC062	Mycoplasma Encephalitis	10
1846	c	RRC027	Rare Corneal Disorder	10
1847		PRS140	Parasitic Myositis	10
1848	c	SPR154	Sporadic Human Prion Disease	10
1849		BLK004	Blake Pouch Cyst	10
1850		ANT052	Antenatal Multiminicore Disease with Arthrogryposis Multiplex Congenita	10
1851		FCL062	Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation	10
1852		AXN006	Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy	10
1853		KLH007	Klhl7-Related Bohring-Opitz-Like/cold-Induced Sweating-Like Overlap Syndrome	10
1854	P	ACT026	Acute Canaliculitis	10
1855	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	9
1856	c	PRR042	Pure or Complex Autosomal Recessive Spastic Paraplegia	9
1857	c	MYP129	Myopathy Due to Malate-Aspartate Shuttle Defect	9
1858	c	STD003	Setd1b-Related Neurodevelopmental Disorder	9
1859		BNG092	Benign Infantile Focal Epilepsy with Midline Spikes and Waves During Sleep	9
1860		MLT076	Multiple System Atrophy with Orthostatic Hypotension	9
1861		EQT001	Equatorial Staphyloma	9
1862		RTC007	Reticular Perineurioma	9
1863		TRF003	Traf7-Associated Heart Defect-Digital Anomalies-Facial Dysmorphism-Motor and Speech Delay Syndrome	9
1864		ISL058	Isolated Anencephaly/exencephaly	9
1865	c	PST025	Posterior Dislocation of Lens	9
1866	P	PST115	Posterior Fossa Group a Ependymoma	9
1867		MRB005	Marburg Acute Multiple Sclerosis	9
1868	c	CRB128	Cerebrofacial Arteriovenous Metameric Syndrome Type 1	9
1869	c	ATS437	Autosomal Dominant Spastic Ataxia	9
1870		NDL004	Nodular Degeneration of Cornea	9
1871		STP001	Staphyloma Posticum	9
1872		ISL050	Isolated Dandy-Walker Malformation with Hydrocephalus	9
1873		TRN052	Transient Hyperammonemia of the Newborn	9
1874	c	TYS006	Tay-Sachs Disease, B Variant, Adult Form	9
1875		ISL028	Isolated Cerebellar Vermis Hypoplasia	9
1876		ADL033	Adult Papillary Meningioma	9
1877	c	PPP002	Ppp2r5d-Related Neurodevelopmental Disorder	9
1878	c	PLY008	Polyneuropathy Due to Drug	9
1879		IDP042	Idiopathic Recurrent Stupor	8
1880		ANP028	Anaplastic/large Cell Medulloblastoma	8
1881	c	ISL038	Isolated Focal Cortical Dysplasia Type Ib	8
1882	c	SCL053	Sclerocornea, Autosomal Dominant	8
1883	c	CRB127	Cerebrofacial Arteriovenous Metameric Syndrome Type 3	8
1884	c	MLT169	Multiple Mitochondrial Dna Deletion Syndrome	8
1885	P	TTL001	Total Internal Ophthalmoplegia	8
1886		1P3003	1p35.2 Microdeletion Syndrome	8
1887		GNC007	Gonococcal Keratitis	8
1888		MNC005	Monocular Exotropia	8
1889	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	8
1890	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	8
1891		INT048	Intracerebral Cystic Meningioma	7
1892		HRD105	Hereditary Sensorimotor Neuropathy with Hyperelastic Skin	7
1893		2P1003	2p13.2 Microdeletion Syndrome	7
1894	c	ATS179	Autosomal Recessive Cerebral Atrophy	7
1895		ACT192	Acute Encephalopathy with Inflammation-Mediated Status Epilepticus	7
1896		PHL004	Phlegmonous Dacryocystitis	7
1897		XLN237	X-Linked Pure Spastic Paraplegia	7
1898		GNT165	Genetic Cerebral Small Vessel Disease	7
1899	P	EPP001	Epiphora Due to Insufficient Drainage	7
1900	c	PST023	Posterior Foramen Magnum Meningioma	7
1901		CPN001	C-P Angle Neurinoma	7
1902		ISL034	Isolated Megalencephaly	7
1903	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	7
1904		EXT049	Extramedullary Soft Tissue Plasmacytoma	7
1905		CNJ008	Conjunctival Concretion	7
1906		ACT005	Acute Hydrops Keratoconus	7
1907		CNG634	Congenital Insensitivity to Pain-Hyperhidrosis-Absence of Cutaneous Sensory Innervation	7
1908		ERL058	Early-Onset Progressive Encephalopathy with Migrant Continuous Myoclonus	7
1909		RNG002	Ring Corneal Ulcer	7
1910		CVT002	Cavitary Myiasis	7
1911	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	7
1912		ISL079	Isolated Encephalocele	7
1913	c	VTM032	Vitamin B6 Plasma Level Quantitative Trait Locus 1	7
1914		SPS235	Spastic Ataxia-Dysarthria Due to Glutaminase Deficiency	7
1915		EML001	Emilin-1-Related Connective Tissue Disease	7
1916	c	PST116	Posterior Fossa Group B Ependymoma	7
1917		ORG008	Orgasm-Induced Seizures	7
1918		DPL002	Diplegia of Upper Limb	7
1919		STR016	Steroid-Induced Glaucoma - Borderline	6
1920		PHL002	Philophthalmiasis	6
1921		MYC061	Myoclonic Epilepsy in Non-Progressive Encephalopathies	6
1922	c	LSS022	Lissencephaly with Cerebellar Hypoplasia Type D	6
1923	c	LSS023	Lissencephaly with Cerebellar Hypoplasia Type C	6
1924		ATS449	Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome	6
1925		PRT098	Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome	6
1926	c	PST012	Posterior Corneal Pigmentation	6
1927		THN007	Thinking Seizures	6
1928		MNN003	Mononeuritis of Upper Limb	6
1929		LCL001	Localized Anterior Staphyloma	6
1930	c	AST061	Astrocytoma, Idh-Mutant, Grade 3	6
1931	c	BNG038	Benign Autosomal Dominant Myopathy	6
1932	c	AST060	Astrocytoma, Idh-Mutant, Grade 2	6
1933		GNC004	Gonococcal Iridocyclitis	6
1934		LTH040	Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome	5
1935		SYM001	Sympathetic Neurilemmoma	5
1936	c	SPS172	Spastic Ataxia 7	5
1937		CNG234	Congenital Myopathy, Paradas Type	5
1938	c	SCN083	Secondary Early-Onset Glaucoma	5
1939		FLT003	Flat Retinoschisis	5
1940		ANT015	Anatomical Narrow Angle Borderline Glaucoma	5
1941	P	NNT056	Neonatal Epilepsy Syndrome	5
1942		RSD001	Residual Stage Angle-Closure Glaucoma	5
1943	c	RRC026	Rare Conjunctivitis	5
1944	c	PRM303	Primary Early-Onset Glaucoma	5
1945		MCR280	Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	5
1946	c	KLH006	Klhl7-Related Bohring-Opitz-Like Syndrome	5
1947	c	TRS028	Torsion Dystonia 17	5
1948		EXT011	Extrapyramidal and Movement Disease	5
1949	c	ARX003	Arx-Related Epileptic Encephalopathy	5
1950	c	ATS459	Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect	5
1951		NSL019	Nasal Ganglioglioma	5
1952		IDP007	Idiopathic Progressive Polyneuropathy	5
1953	P	ANT008	Anterior Corneal Pigmentation	5
1954		MCL004	Macular Keratitis	5
1955		ISL159	Isolated Melanotic Schwannoma	5
1956	c	CHR572	Charcot-Marie-Tooth Disease Type 7	5
1957	c	SYS074	Systemic Diseases with Anterior Uveitis	5
1958		SCH006	Schwannoma of Jugular Foramen	5
1959		EPD007	Epidural Spinal Canal Angiolipoma	5
1960	P	ISL048	Isolated Cerebellar Vermis Agenesis	5
1961		SCH013	Schwannoma of Ureter	5
1962		BNG027	Benign Mediastinal Psammomatous Neurilemmoma	5
1963	c	GLC033	Glaucoma, Hereditary Adult Type 1a	5
1964	c	GLC029	Glaucoma Type 1c	5
1965		PPL011	Papillary Meningioma of the Cerebellum	5
1966	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	5
1967	c	GLC035	Glaucoma, Primary Infantile Type 3a	5
1968		APR011	Aprosencephaly/atelencephaly Spectrum	5
1969	c	FRG005	Fragile X Syndrome Type 2	4
1970	c	FRG006	Fragile X Syndrome Type 3	4
1971	c	FRG004	Fragile X Syndrome Type 1	4
1972	c	DDX001	Ddx3x-Related Intellectual Disability	4
1973		SYN168	Syndrome with a Cerebellar Malformation As a Major Feature	4
1974		LCR003	Lacrimal Passage Granuloma	4
1975		FNC064	Functional Variant of Guillain-Barre Syndrome	4
1976		CRP024	Corpus Callosum Oligodendroglioma	4
1977		PRT004	Partial Sensory Epilepsy	4
1978		STB001	Stable Condition Keratoconus	4
1979		CNT008	Contact Lens Corneal Edema	4
1980		PRS141	Persistent Combined Dystonia	4
1981		PRT099	Parietal Lobe Ependymoma	4
1982	P	PRM007	Primary Lacrimal Atrophy	4
1983		PRS026	Parasitic Conjunctivitis	4
1984		ATS457	Autosomal Recessive Syndromic Cerebellar Ataxia	4
1985	c	SCN004	Secondary Vitreoretinal Degeneration	4
1986	c	RRT014	Rare Tremor Disorder	4
1987	c	SYS076	Systemic Diseases with Posterior Uveitis	4
1988		EPD008	Epidural Spinal Canal Meningioma	4
1989		CDQ002	Cauda Equina Intradural Extramedullary Astrocytoma	4
1990	c	PRR041	Pure or Complex Autosomal Dominant Spastic Paraplegia	4
1991		PRC007	Periocular Meningioma	4
1992		CRB206	Cerebral Malformation with Epilepsy	4
1993	c	ACT242	Acute and Subacute Inflammatory Demyelinating Polyneuropathy	4
1994		MLF008	Malformation of the Cerebellar Hemispheres	4
1995	c	ATP023	Atp13a2-Related Parkinsonism	4
1996		BLP052	Blepharophimosis-Intellectual Disability Syndrome/genitopatellar Overlap Syndrome	4
1997	c	RRN016	Rare Inflammatory/autoimmune Corneal Disorder	4
1998		TCT001	Tactile Epilepsy	4
1999		RSC002	Rosacea Conjunctivitis	4
2000		TTL003	Total Circumpapillary Dystrophy of Choroid	4
2001		BWM001	Bowman's Membrane Folds or Rupture	4
2002		SMP002	Simple Chronic Conjunctivitis	4
2003		PRP014	Peripheral Degeneration of Cornea	4
2004		PHT005	Phthisical Cornea	4
2005		PRT016	Partial Circumpapillary Choroid Dystrophy	4
2006		BNG064	Benign Partial Epilepsy of Infancy with Complex Partial Seizures	4
2007		INT028	Intermixed Schwannian Stroma-Rich Ganglioneuroblastoma	4
2008	c	RRS012	Rare Scleral Disorder	4
2009		RNG001	Ring Staphyloma	4
2010		PRP012	Peripheral Focal Chorioretinitis	4
2011		GNC008	Gonococcal Endophthalmia	4
2012	c	RRD050	Rare Disorder of the Pupil	4
2013		CNT022	Central Gyrate Choroidal Dystrophy	4
2014		CLD015	Cold-Induced Sweating Syndrome-Hyperthermia Spectrum	4
2015		STR013	Stroma-Dominant and Stroma-Poor Composite Ganglioneuroblastoma	3
2016		SYN102	Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature	3
2017		CHR044	Chronic Toxic Polyneuropathy	3
2018	c	FXG003	Foxg1 Syndrome Due to Intragenic Alteration	3
2019	c	HYD017	Hydrocephalus Autosomal Recessive	3
2020		CL4011	Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Hemorrhagic Tendancy	3
2021		DFF008	Diffuse Secondary Choroid Atrophy	3
2022		PLM197	Pleomorphic Xanthoastrocytoma Braf Mutant	3
2023		CL4012	Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Ischemic Tendancy	3
2024	c	SCN002	Secondary Lacrimal Atrophy	3
2025		STN001	Stenosis of Lacrimal Sac	3
2026		STN002	Stenosis of Lacrimal Punctum	3
2027		ANG008	Angioid Streaks of Choroid	3
2028	c	EPP002	Epiphora Due to Excess Lacrimation	3
2029		RSD003	Residual Stage Corticosteroid-Induced Glaucoma	3
2030		XLN236	X-Linked Intellectual Disability-Epilepsy Syndrome	3
2031		ATS456	Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia	3
2032		SNL006	Senile Atrophy of Choroid	3
2033		CHR685	Chromosomal Anomaly with Epilepsy As a Major Feature	2
2034		BNG065	Benign Partial Infantile Seizures	2
2035		LYS027	Lysosomal Disease with Epilepsy	2
2036		SPR171	Sporatic Amyotrophic Lateral Sclerosis	2
2037		PST108	Postinfectious Autoimmune Disease with Chorea	2
2038		SPH020	Sphingolipidosis with Epilepsy	2
2039		ERB001	Erb-Duchenne and Dejerine-Klumpke Palsies	1
2040	P	FVL008	Foveal Hypoplasia 2	30
2041		ALP100	Alpha-Thalassemia/mental Retardation Syndrome, X-Linked	49
2042	c	ADT011	Auditory Neuropathy, Autosomal Dominant 1	37
2043	c	DFN133	Deafness, Autosomal Recessive 9	48
2044		INT319	Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	43
2045	c	INT414	Intellectual Developmental Disorder, X-Linked 29	35
2046	c	INT430	Intellectual Developmental Disorder, X-Linked 98	32
2047	c	INT425	Intellectual Developmental Disorder, X-Linked 19	30
2048	c	INT427	Intellectual Developmental Disorder, X-Linked 90	24
2049	c	INT411	Intellectual Developmental Disorder, X-Linked 72	24
2050	c	INT492	Intellectual Developmental Disorder, X-Linked 2	20
2051	c	INT494	Intellectual Developmental Disorder, X-Linked 46	18
2052	c	INT487	Intellectual Developmental Disorder, X-Linked 14	15
2053	c	INT486	Intellectual Developmental Disorder, X-Linked 20	14
2054		NRG002	Neurogenic Bladder	55
2055		ALP093	Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related	25
2056	c	DFN352	Deafness, Autosomal Recessive 8	39
2057	P	GST047	Gastrointestinal Neuroendocrine Tumor	36
2058	P	INT404	Intellectual Developmental Disorder, X-Linked, Syndromic 13	35
2059	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	67
2060	P	HRD207	Hereditary Transthyretin Amyloidosis	32
2061		SYN092	Syndromic X-Linked Intellectual Disability Cabezas Type	32
2062		SML004	Small Intestine Neuroendocrine Neoplasm	24
2063	c	INT533	Intellectual Developmental Disorder, Autosomal Dominant 13	39
2064		PRM284	Primitive Neuroectodermal Tumor of the Cervix Uteri	12
2065		NRN001	Neuroendocrine Carcinoma	46
2066	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	34
2067	c	DFN250	Deafness, Autosomal Recessive 2	48
2068	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	32
2069		GST004	Gastric Neuroendocrine Neoplasm	44
2070		IMM185	Immunodeficiency 26 with or Without Neurologic Abnormalities	30
2071		ADR003	Adrenal Neuroblastoma	27
2072		NNF009	Non-Functioning Neuroendocrine Tumor of Pancreas	20
2073		HGH030	High-Grade Neuroendocrine Carcinoma of the Cervix Uteri	18
2074	c	FRT006	Fourth Cranial Nerve Palsy, Familial Congenital	17
2075		HGH029	High-Grade Neuroendocrine Carcinoma of the Corpus Uteri	8
2076		BSL048	Basilicata-Akhtar Syndrome	41
2077		LBR031	Leber Optic Atrophy and Dystonia	40
2078	c	MSC101	Muscular Dystrophy-Dystroglycanopathy , Type a, 7	34
2079	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	33
2080		ATS252	Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	32
2081	P	DFN349	Deafness, Nonsyndromic Sensorineural, Mitochondrial	32
2082	c	MSC041	Muscular Dystrophy-Dystroglycanopathy , Type a, 6	29
2083	c	MSC105	Muscular Dystrophy-Dystroglycanopathy , Type a, 13	29
2084	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	29
2085		RTN232	Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome	28
2086	c	INT475	Intellectual Developmental Disorder, Autosomal Dominant 39	27
2087		ATS251	Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	27
2088	c	INT558	Intellectual Developmental Disorder, Autosomal Recessive 61	26
2089	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	25
2090	c	INT424	Intellectual Developmental Disorder, X-Linked 97	24
2091		FNC065	Functioning Neuroendocrine Tumor of Pancreas	18
2092	c	DFN348	Deafness, Sensorineural, Autosomal-Mitochondrial Type	13
2093		XLN174	X-Linked Non-Syndromic Sensorineural Deafness Type Dfn	12
2094		INT252	Intestinal Neuroendocrine Benign Tumor	6
2095		DFN245	Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct	53
2096	c	DFN127	Deafness, Autosomal Recessive 7	38
2097	c	DFN124	Deafness, Autosomal Recessive 6	38
2098	c	DFN201	Deafness, Autosomal Recessive 3	38
2099	c	MSC102	Muscular Dystrophy-Dystroglycanopathy , Type a, 12	30
2100	c	INT436	Intellectual Developmental Disorder, X-Linked, Syndromic 34	29
2101	c	ADT012	Auditory Neuropathy, Autosomal Dominant 3	16
2102	P	URF003	Urofacial Syndrome 1	55
2103		INT417	Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	41
2104		OVR005	Ovarian Large-Cell Neuroendocrine Carcinoma	31
2105		HNM002	Hinman Syndrome	31
2106	c	VSC067	Visceral Neuropathy, Familial, 1, Autosomal Recessive	29
2107	P	ADT009	Auditory Neuropathy Spectrum Disorder	28
2108		DFN356	Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement	24
2109	c	URF002	Urofacial Syndrome 2	22
2110	c	VSC068	Visceral Neuropathy, Familial, 3, Autosomal Dominant	20
2111	P	MJR001	Major Depressive Disorder	75
2112	P	GRS003	Griscelli Syndrome	56
2113	P	EMR017	Emery-Dreifuss Muscular Dystrophy 1, X-Linked	53
2114	c	GRS014	Griscelli Syndrome, Type 2	53
2115	c	GRS013	Griscelli Syndrome, Type 1	48
2116	c	INT520	Intellectual Developmental Disorder, Autosomal Dominant 7	46
2117	c	XLN241	X-Linked Emery-Dreifuss Muscular Dystrophy	42
2118	c	GRS012	Griscelli Syndrome, Type 3	40
2119		ADP007	Adie Pupil	40
2120		VLT001	Vulto-Van Silfhout-De Vries Syndrome	40
2121	P	INT454	Intellectual Developmental Disorder, Autosomal Dominant 55, with Seizures	38
2122	c	INT542	Intellectual Developmental Disorder, Autosomal Dominant 29	37
2123		GND017	Gand Syndrome	35
2124		INT578	Intellectual Developmental Disorder, Autosomal Dominant 30, with Speech Delay and Behavioral Abnormalities	34
2125	c	INT550	Intellectual Developmental Disorder, Autosomal Dominant 41	34
2126		INT408	Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	33
2127	c	CNG557	Congenital Muscular Dystrophy-Dystroglycanopathy Type A2	32
2128	c	INT507	Intellectual Developmental Disorder, Autosomal Recessive 5	31
2129	P	ATS522	Autosomal Dominant Intellectual Developmental Disorder	31
2130	c	INT555	Intellectual Developmental Disorder, Autosomal Dominant 46	30
2131	c	INT549	Intellectual Developmental Disorder, Autosomal Dominant 38	30
2132		SYN090	Syndromic X-Linked Intellectual Disability Turner Type	30
2133	c	INT546	Intellectual Developmental Disorder, Autosomal Dominant 33	29
2134	c	CNG547	Congenital Muscular Dystrophy-Dystroglycanopathy Type A11	29
2135	c	INT505	Intellectual Developmental Disorder, Autosomal Recessive 2	29
2136		CHR712	Chromosome 20q11-Q12 Deletion Syndrome	28
2137	c	INT560	Intellectual Developmental Disorder, Autosomal Dominant 52	28
2138	c	INT554	Intellectual Developmental Disorder, Autosomal Dominant 45	28
2139	c	CNG551	Congenital Muscular Dystrophy-Dystroglycanopathy A7	27
2140	c	ATS523	Autosomal Recessive Intellectual Developmental Disorder	26
2141	c	INT561	Intellectual Developmental Disorder, Autosomal Dominant 53	26
2142	c	INT523	Intellectual Developmental Disorder, Autosomal Dominant 10	24
2143	c	ATS524	Autosomal Dominant Intellectual Developmental Disorder 6	24
2144	c	INT559	Intellectual Developmental Disorder, Autosomal Dominant 51	24
2145	c	INT397	Intellectual Developmental Disorder, X-Linked 50	24
2146		MNT196	Mental Retardation, X-Linked 92	24
2147		URN001	Urinary Bladder Small Cell Neuroendocrine Carcinoma	24
2148	c	INT462	Intellectual Developmental Disorder, Autosomal Dominant 34	23
2149	c	CNG559	Congenital Muscular Dystrophy-Dystroglycanopathy Type A6	22
2150		SYN062	Syncope, Familial Vasovagal	19
2151	c	MJR013	Major Depressive Disorder 1	16
2152	c	MJR014	Major Depressive Disorder 2	16
2153	c	CNG555	Congenital Muscular Dystrophy-Dystroglycanopathy Type A13	9
2154		PSY004	Psychotic Disorder	69
2155	c	DFN097	Deafness, Autosomal Recessive 1a	51
2156	c	DFN141	Deafness, Autosomal Recessive 12	47
2157	c	DFN136	Deafness, Autosomal Dominant 9	46
2158	c	DFN200	Deafness, Autosomal Dominant 17	44
2159	c	DFN197	Deafness, Autosomal Recessive 37	43
2160	c	DFN103	Deafness, Autosomal Recessive 1b	41
2161	c	DFN203	Deafness, Autosomal Recessive 30	41
2162		OKR001	Okur-Chung Neurodevelopmental Syndrome	41
2163	c	DFN111	Deafness, Autosomal Recessive 35	38
2164	c	DFN117	Deafness, Autosomal Dominant 15	37
2165	c	ATS006	Autosomal Recessive Nonsyndromic Deafness	37
2166	c	DFN259	Deafness, Autosomal Recessive 86	37
2167	c	DFN244	Deafness, Autosomal Recessive 42	36
2168	c	DFN155	Deafness, Autosomal Dominant 41	34
2169	c	INT403	Intellectual Developmental Disorder, X-Linked 21	34
2170	c	DFN360	Deafness, Autosomal Dominant 69	34
2171	c	DFN277	Deafness, Autosomal Recessive 102	33
2172	c	DFN120	Deafness, Autosomal Recessive 39	33
2173	c	DFN280	Deafness, Autosomal Recessive	33
2174	c	DFN260	Deafness, Autosomal Recessive 89	33
2175	c	DFN248	Deafness, Autosomal Recessive 18b	32
2176	c	DFN254	Deafness, Autosomal Recessive 84b	31
2177	c	DFN281	Deafness, Autosomal Recessive 103	30
2178	c	DFN148	Deafness, Autosomal Dominant 16	29
2179	c	DFN192	Deafness, Autosomal Dominant 23	29
2180	c	DFN099	Deafness, Autosomal Dominant 2b	29
2181	c	DFN118	Deafness, Autosomal Dominant 44	29
2182	c	DFN183	Deafness, Autosomal Recessive 83	29
2183	c	DFN119	Deafness, Autosomal Dominant 50	29
2184		INT518	Intellectual Developmental Disorder, Autosomal Dominant 6, with or Without Seizures	29
2185	c	DFN273	Deafness, Autosomal Recessive 101	28
2186	c	INT434	Intellectual Developmental Disorder, X-Linked 12	28
2187	c	ATS005	Autosomal Dominant Nonsyndromic Deafness	27
2188		MNG003	Mungan Syndrome	27
2189	c	ATS380	Autosomal Recessive Nonsyndromic Deafness 36	27
2190	c	DFN246	Deafness, Autosomal Dominant 51	27
2191	c	ATS409	Autosomal Recessive Nonsyndromic Deafness 32	27
2192	c	DFN152	Deafness, Autosomal Dominant 27	26
2193	c	DFN257	Deafness, Autosomal Dominant 33	26
2194		ABN011	Abnormal Hair, Joint Laxity, and Developmental Delay	26
2195	c	DFN030	Deafness, Autosomal Recessive 55	25
2196	c	OTF001	Otof-Related Deafness	25
2197	c	DFN173	Deafness, Autosomal Recessive 40	25
2198	c	DFN271	Deafness, Autosomal Dominant 58	25
2199	c	DFN169	Deafness, Autosomal Recessive 27	24
2200	c	DFN162	Deafness, Autosomal Dominant 59	24
2201	c	ATS528	Autosomal Recessive Nonsyndromic Deafness 70	24
2202	c	DFN240	Deafness, Autosomal Recessive 96	24
2203	c	DFN179	Deafness, Autosomal Recessive 62	24
2204	c	DFN149	Deafness, Autosomal Dominant 18	24
2205	c	DFN174	Deafness, Autosomal Recessive 44	23
2206	c	DFN184	Deafness, Autosomal Recessive 85	23
2207	c	DFN166	Deafness, Autosomal Recessive 17	23
2208		INT459	Intellectual Developmental Disorder, Autosomal Recessive 34, with Variant Lissencephaly	22
2209		NRD071	Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements	22
2210	c	DFN160	Deafness, Autosomal Dominant 52	22
2211	c	DFN151	Deafness, Autosomal Dominant 24	20
2212	c	DFN029	Deafness, Autosomal Recessive 51	20
2213	c	DFN333	Deafness, Autosomal Dominant 73	20
2214	c	DFN171	Deafness, Autosomal Recessive 33	19
2215	c	DFN165	Deafness, Autosomal Recessive 14	19
2216	c	DFN164	Deafness, Autosomal Recessive 13	18
2217	c	DFN368	Deafness, Autosomal Dominant 74	18
2218	c	DFN167	Deafness, Autosomal Recessive 20	18
2219	c	DFN180	Deafness, Autosomal Recessive 65	18
2220	c	DFN158	Deafness, Autosomal Dominant 49	18
2221	c	DFN243	Deafness, Autosomal Recessive 88	17
2222	c	DFN154	Deafness, Autosomal Dominant 31	17
2223	c	DFN272	Deafness, Autosomal Dominant 54	17
2224	c	DFN161	Deafness, Autosomal Dominant 53	17
2225	c	DFN381	Deafness, Autosomal Dominant 75	17
2226	c	DFN156	Deafness, Autosomal Dominant 43	16
2227	c	ATS490	Autosomal Dominant Nonsyndromic Deafness 77	16
2228	c	DFN153	Deafness, Autosomal Dominant 30	16
2229	c	ATS484	Autosomal Dominant Nonsyndromic Deafness 78	16
2230	c	DFN261	Deafness, Autosomal Recessive 46	16
2231	c	DFN157	Deafness, Autosomal Dominant 47	15
2232	c	DFN172	Deafness, Autosomal Recessive 38	15
2233	c	DFN182	Deafness, Autosomal Recessive 71	14
2234	c	DFN175	Deafness, Autosomal Recessive 45	14
2235	c	ATS487	Autosomal Dominant Nonsyndromic Deafness 74	13
2236	P	RRD005	Rare Deafness	13
2237	c	ATS485	Autosomal Dominant Nonsyndromic Deafness 79	6
2238	c	ATS489	Autosomal Dominant Nonsyndromic Deafness 76	6
2239	c	ATS488	Autosomal Dominant Nonsyndromic Deafness 75	6
2240	c	ATS486	Autosomal Recessive Nonsyndromic Deafness 116	6
2241	c	ATS396	Autosomal Recessive Nonsyndromic Deafness 106	5
2242	c	ATS399	Autosomal Dominant Nonsyndromic Deafness 71	5
2243	c	ATS401	Autosomal Dominant Nonsyndromic Deafness 73	5
2244	c	ATS398	Autosomal Recessive Nonsyndromic Deafness 108	5
2245	c	ATS397	Autosomal Recessive Nonsyndromic Deafness 107	5
2246	c	ATS400	Autosomal Dominant Nonsyndromic Deafness 72	5
2247	c	ATS402	Autosomal Dominant Nonsyndromic Deafness 34	5
2248	P	FML018	Familial Mediterranean Fever	75
2249		ANX010	Anxiety	69
2250	P	VSC007	Vascular Disease	64
2251	P	LRG012	Large Congenital Melanocytic Nevus	53
2252	P	RHB008	Rhabdoid Tumor Predisposition Syndrome 1	48
2253		HGH043	High Grade Glioma	47
2254	c	PRV019	Periventricular Nodular Heterotopia 1	42
2255		BRK002	Birk-Barel Syndrome	39
2256		PLM039	Pulmonary Neuroendocrine Tumor	36
2257		MLL023	Mullegama-Klein-Martinez Syndrome	35
2258	c	INT446	Intellectual Developmental Disorder, X-Linked 1	35
2259	c	INT342	Intellectual Developmental Disorder, X-Linked 108	32
2260	c	INT419	Intellectual Developmental Disorder, X-Linked 30	30
2261	c	INT420	Intellectual Developmental Disorder, X-Linked 93	27
2262	c	INT431	Intellectual Developmental Disorder, X-Linked 99	27
2263		HYP697	Hyperphosphatasia with Mental Retardation Syndrome 6	26
2264	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	26
2265		NRD150	Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features	26
2266	c	INT439	Intellectual Developmental Disorder, X-Linked 104	26
2267		INT458	Intellectual Developmental Disorder, Autosomal Recessive 18, with or Without Epilepsy	25
2268	c	INT442	Intellectual Developmental Disorder, X-Linked 106	25
2269		NRN006	Neuroendocrine Carcinoma of the Cervix	22
2270	c	INT438	Intellectual Developmental Disorder, X-Linked 103	22
2271	c	INT519	Intellectual Developmental Disorder, Autosomal Recessive 14	22
2272	c	INT445	Intellectual Developmental Disorder, X-Linked 107	21
2273		NRD090	Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements	21
2274		JJN009	Jejunal Neuroendocrine Tumor	20
2275	c	INT440	Intellectual Developmental Disorder, X-Linked 105	19
2276	c	INT433	Intellectual Developmental Disorder, X-Linked 101	19
2277	c	INT432	Intellectual Developmental Disorder, X-Linked 100	17
2278		EPL170	Epilepsy-Aphasia Spectrum	17
2279	c	RRV009	Rare Vascular Disease	14
2280	c	PRV013	Periventricular Nodular Heterotopia 3	13
2281		NRN043	Neuroendocrine Neoplasm of Esophagus	11
2282		SRT005	Serotonin-Producing Neuroendocrine Tumor of Pancreas	10
2283		MTH089	Methylmalonic Aciduria and Homocystinuria, Cblx Type	48
2284	c	ATS525	Autosomal Dominant Intellectual Developmental Disorder 8	38
2285		CBL011	Cebalid Syndrome	37
2286	c	INT455	Intellectual Developmental Disorder, Autosomal Dominant 56	35
2287		SHR058	Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly	35
2288		PLM038	Pulmonary Large Cell Neuroendocrine Carcinoma	35
2289		EXT065	Extraosseous Ewing Sarcoma	35
2290	c	INT557	Intellectual Developmental Disorder, Autosomal Dominant 48	32
2291	c	DFN178	Deafness, Autosomal Recessive 59	31
2292		MMS001	Momo Syndrome	29
2293		INT437	Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	28
2294	P	NRN038	Neuronal Intestinal Dysplasia, Type B	27
2295	c	INT562	Intellectual Developmental Disorder, Autosomal Dominant 54	27
2296		INT369	Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type	27
2297	c	CNG558	Congenital Muscular Dystrophy-Dystroglycanopathy Type A5	27
2298		NRD052	Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures	25
2299		INT416	Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	25
2300	c	INT544	Intellectual Developmental Disorder, Autosomal Recessive 46	25
2301		PRS131	Prostate Cancer/brain Cancer Susceptibility	25
2302	c	INT508	Intellectual Developmental Disorder, Autosomal Recessive 7	25
2303	c	INT471	Intellectual Developmental Disorder, Autosomal Recessive 27	24
2304	c	INT479	Intellectual Developmental Disorder, Autosomal Recessive 58	24
2305		NRN033	Neuroendocrine Tumor of the Colon	24
2306	c	INT540	Intellectual Developmental Disorder, Autosomal Recessive 44	23
2307	c	INT364	Intellectual Developmental Disorder, Autosomal Recessive 72	23
2308	c	INT468	Intellectual Developmental Disorder, Autosomal Recessive 66	23
2309	c	ATS529	Autosomal Dominant Intellectual Developmental Disorder 40	22
2310	c	CNG552	Congenital Muscular Dystrophy-Dystroglycanopathy Type A12	22
2311	c	NNS083	Non-Syndromic X-Linked Intellectual Disability 1	22
2312	c	INT474	Intellectual Developmental Disorder, Autosomal Recessive 43	22
2313		NRD060	Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia	22
2314	c	INT565	Intellectual Developmental Disorder, Autosomal Recessive 64	21
2315	c	INT423	Intellectual Developmental Disorder, X-Linked 96	21
2316		NRN045	Neuroendocrine Neoplasm of Appendix	20
2317	c	SYN170	Syndromic X-Linked Intellectual Disability 94	20
2318	c	INT429	Intellectual Developmental Disorder, X-Linked, Syndromic 32	19
2319		DFF020	Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia	19
2320	c	INT461	Intellectual Developmental Disorder, Autosomal Recessive 47	18
2321	c	INT463	Intellectual Developmental Disorder, Autosomal Recessive 50	18
2322		EXT008	Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor	17
2323	c	INT465	Intellectual Developmental Disorder, Autosomal Recessive 52	17
2324	c	INT470	Intellectual Developmental Disorder, X-Linked, Syndromic 7	17
2325		CHR675	Chronic Relapsing Inflammatory Optic Neuropathy	17
2326		DBT089	Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification	17
2327	c	INT500	Intellectual Developmental Disorder, X-Linked, Syndromic 17	16
2328		INT501	Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	16
2329		RTN071	Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism	15
2330	c	INT489	Intellectual Developmental Disorder, X-Linked 53	14
2331		OCL031	Oculo-Cerebral Dysplasia	9
2332		CHL176	Childhood Cns Choriocarcinoma	7
2333		MLG125	Malignant Mediastinal Neurogenic Neoplasm	6
2334		MRK001	Merkel Cell Carcinoma	67
2335	P	ATT013	Attention Deficit-Hyperactivity Disorder	66
2336	c	MLN065	Melanocytic Nevus Syndrome, Congenital	59
2337	P	XRD029	Xeroderma Pigmentosum, Complementation Group a	57
2338	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	56
2339		CD4003	Cd40 Ligand Deficiency	56
2340	c	XRD031	Xeroderma Pigmentosum, Complementation Group F	56
2341		GLT007	Glutathione Synthetase Deficiency	51
2342	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	49
2343		OSS014	Ossification of the Posterior Longitudinal Ligament of Spine	46
2344	c	DFN247	Deafness, Autosomal Recessive 18a	42
2345	c	DFN128	Deafness, Autosomal Dominant 36	42
2346	c	DFN093	Deafness, Autosomal Recessive 23	42
2347	c	DFN189	Deafness, Autosomal Dominant 25	42
2348	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	41
2349	c	DFN139	Deafness, Autosomal Recessive 29	41
2350	c	DFN112	Deafness, Autosomal Recessive 63	41
2351	c	DFN107	Deafness, Autosomal Dominant 10	40
2352	c	DFN143	Deafness, Autosomal Recessive 16	39
2353	c	DFN130	Deafness, Autosomal Recessive 21	39
2354	c	DFN092	Deafness, Autosomal Recessive 49	39
2355	c	DFN267	Deafness, Autosomal Dominant 4a	39
2356	c	DFN098	Deafness, Autosomal Dominant 3a	39
2357	c	DFN170	Deafness, Autosomal Recessive 31	38
2358	c	DFN262	Deafness, Autosomal Recessive 15	38
2359	c	DFN351	Deafness, Autosomal Dominant 6	38
2360	c	DFN102	Deafness, Autosomal Dominant 3b	38
2361	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	38
2362	c	DFN190	Deafness, Autosomal Dominant 2a	38
2363	c	PRR020	Perrault Syndrome 1	37
2364	c	DFN202	Deafness, Autosomal Dominant 48	36
2365	c	DFN159	Deafness, Autosomal Dominant 5	36
2366	c	DFN354	Deafness, Autosomal Dominant 20	35
2367		CFL005	Cafe-Au-Lait Spots, Multiple	33
2368	c	DFN132	Deafness, Autosomal Recessive 22	33
2369	c	DFN137	Deafness, Autosomal Dominant 13	33
2370	c	SPS025	Spastic Paraplegia 15	32
2371	c	DFN121	Deafness, Autosomal Recessive 28	32
2372	c	DFN188	Deafness, Autosomal Recessive 61	32
2373	c	DFN255	Deafness, Autosomal Dominant 64	31
2374	c	DFN094	Deafness, Autosomal Dominant 28	31
2375		SQL002	Squalene Synthase Deficiency	29
2376		NRD037	Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies	29
2377		PRR044	Poirier-Bienvenu Neurodevelopmental Syndrome	27
2378		NRD039	Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language	27
2379	c	PRR022	Perrault Syndrome 2	26
2380		FCL093	Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome	25
2381	c	PRR026	Perrault Syndrome 5	25
2382	c	DFN258	Deafness, Autosomal Recessive 48	24
2383	c	DFN138	Deafness, Autosomal Recessive 53	24
2384		NRD046	Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities	24
2385		NRD104	Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities	23
2386		PGN002	Paganini-Miozzo Syndrome	22
2387		NRD142	Neurodevelopmental Disorder with Hearing Loss and Spasticity	22
2388		INT311	Intellectual Developmental Disorder with Neuropsychiatric Features	21
2389	c	PRR033	Perrault Syndrome 6	21
2390		INT569	Intellectual Developmental Disorder with or Without Peripheral Neuropathy	20
2391		LBR039	Leber Hereditary Optic Neuropathy, Autosomal Recessive	19
2392	c	ATT025	Attention Deficit-Hyperactivity Disorder 8	14
2393	c	ATT021	Attention Deficit-Hyperactivity Disorder 3	13
2394	c	ATT020	Attention Deficit-Hyperactivity Disorder 2	12
2395	c	ATT019	Attention Deficit-Hyperactivity Disorder 1	12
2396	c	ATT022	Attention Deficit-Hyperactivity Disorder 4	11
2397	P	HRS035	Hirschsprung Disease 1	69
2398	c	MSC170	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	69
2399	P	HYP086	Hypothyroidism	68
2400	P	CNG042	Congenital Central Hypoventilation Syndrome	67
2401	c	ORF037	Orofaciodigital Syndrome I	64
2402	c	CNG006	Congenital Hypothyroidism	64
2403	c	CNT119	Central Hypoventilation Syndrome, Congenital, 1	62
2404	P	NTR004	Neutropenia	61
2405	c	ORF040	Orofaciodigital Syndrome Viii	59
2406	c	MSC169	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	58
2407	c	SVR003	Severe Congenital Neutropenia	58
2408	P	BPL003	Bipolar Disorder	57
2409	P	LMB006	Limb-Girdle Muscular Dystrophy	56
2410	c	XRD023	Xeroderma Pigmentosum, Complementation Group G	54
2411	c	MSC048	Muscular Dystrophy-Dystroglycanopathy , Type B, 1	51
2412	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	51
2413		SMT006	Somatoform Disorder	50
2414	c	MSC176	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	50
2415	c	MSC042	Muscular Dystrophy-Dystroglycanopathy , Type B, 6	50
2416	c	MSC175	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	49
2417	c	ORF035	Orofaciodigital Syndrome Iv	49
2418	P	ORF001	Orofaciodigital Syndrome	49
2419	c	MSC173	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	48
2420		CRY008	Cryopyrin-Associated Periodic Syndrome	48
2421	c	ORF033	Orofaciodigital Syndrome V	47
2422	c	BPL002	Bipolar I Disorder	47
2423	c	MSC178	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	47
2424	P	THY061	Thyroid Dyshormonogenesis 2a	46
2425	c	ATS298	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	46
2426	c	MSC172	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	46
2427	c	ATS279	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	46
2428	c	ATS207	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	45
2429	c	MSC174	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	44
2430	c	FML297	Familial Thyroid Dyshormonogenesis	44
2431	c	SVR107	Severe Congenital Neutropenia 3	44
2432	c	MSC177	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	43
2433	c	ATS246	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	43
2434	c	MSC171	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	43
2435	c	ATS277	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	43
2436	c	ATS331	Autosomal Recessive Limb-Girdle Muscular Dystrophy	42
2437	c	ATS217	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	42
2438	c	MSC179	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	41
2439	c	MSC180	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	41
2440	c	ATS297	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	40
2441	c	ORF038	Orofaciodigital Syndrome Iii	40
2442	c	HRS036	Hirschsprung Disease 2	40
2443	c	SVR110	Severe Congenital Neutropenia 4	39
2444	c	MSC183	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	39
2445	c	MSC181	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	38
2446	c	ORF043	Orofaciodigital Syndrome Ix	38
2447	c	INT516	Intellectual Developmental Disorder, Autosomal Dominant 5	37
2448	P	ATS366	Autism X-Linked 2	37
2449	c	SVR106	Severe Congenital Neutropenia 5	37
2450	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	37
2451	c	MSC184	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	37
2452	c	ATS299	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	36
2453	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	36
2454	c	THY071	Thyroid Dyshormonogenesis 1	36
2455	c	THY063	Thyroid Dyshormonogenesis 4	36
2456	c	ATS211	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	36
2457		ANR009	Aneurysmal Bone Cysts	35
2458	c	THY056	Thyroid Dyshormonogenesis 3	35
2459	c	THY110	Thyroid Dyshormonogenesis 6	35
2460	c	MSC189	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	34
2461	c	LMB073	Limb-Girdle Muscular Dystrophy Type 1a	34
2462	c	ATS483	Autosomal Dominant Severe Congenital Neutropenia	33
2463	c	CRB099	Cerebrooculofacioskeletal Syndrome 3	33
2464	c	NTR054	Neutropenia, Severe Congenital, 8, Autosomal Dominant	33
2465	c	ORF036	Orofaciodigital Syndrome Xiv	31
2466	c	ATS280	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	31
2467	c	SVR104	Severe Congenital Neutropenia 7	31
2468	c	ATS330	Autosomal Dominant Limb-Girdle Muscular Dystrophy	31
2469	c	MSC058	Muscular Dystrophy, Limb-Girdle, Type 1h	30
2470	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	30
2471		CNG545	Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies	30
2472		INT441	Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	29
2473		DVL024	Developmental Delay with or Without Dysmorphic Facies and Autism	29
2474	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	29
2475	c	MSC191	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	29
2476	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	28
2477	c	ORF041	Orofaciodigital Syndrome X	28
2478		CLF045	Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa	28
2479	c	DBT105	Diabetes Mellitus, Permanent Neonatal, 2	27
2480	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	27
2481	c	INT563	Intellectual Developmental Disorder, Autosomal Dominant 57	27
2482	c	MSC187	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	27
2483	c	INT517	Intellectual Developmental Disorder, Autosomal Recessive 13	27
2484	c	ATS333	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	27
2485	c	ATS367	Autism X-Linked 3	26
2486	c	THY062	Thyroid Dyshormonogenesis 5	26
2487	c	CNT101	Central Congenital Hypothyroidism	26
2488	c	INT447	Intellectual Developmental Disorder, X-Linked 9	26
2489	c	INT545	Intellectual Developmental Disorder, Autosomal Recessive 48	26
2490	c	ORF042	Orofaciodigital Syndrome Xi	26
2491		NRD109	Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies	26
2492		SPN428	Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant	26
2493	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	25
2494	c	ORF046	Orofaciodigital Syndrome Xvi	25
2495	c	HRS029	Hirschsprung Disease 4	25
2496		NRD043	Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities	25
2497	c	LMB074	Limb-Girdle Muscular Dystrophy Type 1b	25
2498		NRD084	Neurodevelopmental Disorder with Absent Language and Variable Seizures	25
2499	c	INT413	Intellectual Developmental Disorder, X-Linked 63	25
2500	c	ORF051	Orofaciodigital Syndrome Xvii	25
2501	c	SVR108	Severe Congenital Neutropenia 6	25
2502		INT383	Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	25
2503	c	ORF052	Orofaciodigital Syndrome Xviii	25
2504		NRD072	Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities	25
2505		NRD120	Neurodegeneration with Ataxia and Late-Onset Optic Atrophy	24
2506	c	HRS034	Hirschsprung Disease 3	24
2507	c	ATS365	Autism X-Linked 1	24
2508	c	INT400	Intellectual Developmental Disorder, Autosomal Dominant 65	24
2509	c	ATS332	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w	24
2510	c	INT478	Intellectual Developmental Disorder, Autosomal Recessive 57	24
2511	c	ORF045	Orofaciodigital Syndrome Xv	24
2512	c	INT426	Intellectual Developmental Disorder, X-Linked 41	24
2513	c	INT477	Intellectual Developmental Disorder, Autosomal Recessive 74	24
2514		NRD144	Neurodevelopmental Disorder with Hyperkinetic Movements and Dyskinesia	24
2515		ALZ064	Alzahrani-Kuwahara Syndrome	24
2516		INT570	Intellectual Developmental Disorder with Language Impairment and with or Without Autistic Features	24
2517	c	MSC186	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21	23
2518	c	NTR056	Neutropenia, Severe Congenital, 9, Autosomal Dominant	23
2519		NRD069	Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment	23
2520		EPL253	Epilepsy, Early-Onset, with or Without Developmental Delay	23
2521	c	INT484	Intellectual Developmental Disorder, Autosomal Recessive 1	23
2522		NRD066	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements	22
2523	c	MSC202	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	22
2524		NRD025	Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations	22
2525		DFN389	Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy	22
2526		RCH010	Richieri-Costa/guion-Almeida Syndrome	22
2527	c	NTR045	Neutropenia, Chronic Familial	22
2528	c	INT398	Intellectual Developmental Disorder, Autosomal Recessive 12	22
2529	c	INT452	Intellectual Developmental Disorder, Autosomal Recessive 6	22
2530	c	INT406	Intellectual Developmental Disorder, X-Linked 58	22
2531	c	INT575	Intellectual Developmental Disorder, Autosomal Dominant 67	22
2532		MTB009	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	22
2533		STB004	Setbp1 Haploinsufficiency Disorder	22
2534	c	INT480	Intellectual Developmental Disorder, Autosomal Recessive 73	21
2535		RLN005	Rolandic Epilepsy, Impaired Intellectual Development, and Speech Dyspraxia, X-Linked	21
2536	c	ORF039	Orofaciodigital Syndrome Vii	21
2537		BRN151	Brunet-Wagner Neurodevelopmental Syndrome	20
2538		NRD170	Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment	20
2539		CRP038	Corpus Callosum, Agenesis of, with Impaired Intellectual Development, Ocular Coloboma, and Micrognathia	20
2540	c	MSC199	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	20
2541	c	ATS354	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z	20
2542	c	SVR103	Severe Congenital Neutropenia 1	20
2543	c	TSS007	Tessadori-Van Haaften Neurodevelopmental Syndrome 2	19
2544	c	INT512	Intellectual Developmental Disorder, Autosomal Recessive 4	19
2545	c	PRM316	Primary Congenital Hypothyroidism	19
2546	c	TSS008	Tessadori-Van Haaften Neurodevelopmental Syndrome 3	19
2547		CRV015	Cervical Large Cell Neuroendocrine Carcinoma	18
2548	c	INT541	Intellectual Developmental Disorder, Autosomal Recessive 45	18
2549	c	TSS009	Tessadori-Van Haaften Neurodevelopmental Syndrome 4	17
2550	c	HRS027	Hirschsprung Disease 5	17
2551	c	ACQ053	Acquired Neutropenia	17
2552		DFN398	Deafness, Autosomal Recessive 70, with or Without Adult-Onset Neurodegeneration	17
2553		NRD177	Neurodevelopmental Disorder with Eye Movement Abnormalities and Ataxia	17
2554	c	ATS450	Autosomal Recessive Severe Congenital Neutropenia	17
2555		DVL144	Developmental Delay, Behavioral Abnormalities, and Neuropsychiatric Disorders	17
2556		NRD178	Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities	17
2557		NRD157	Neurodevelopmental Disorder with Microcephaly, Hypotonia, Nystagmus, and Seizures	16
2558	c	TRN047	Transient Congenital Hypothyroidism	16
2559	c	ATS177	Autism X-Linked 5	16
2560	c	SVR105	Severe Congenital Neutropenia 2	16
2561		NRD168	Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures	15
2562		THY092	Thymic Neuroendocrine Carcinoma	15
2563		NRD165	Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures	15
2564	c	PMG002	Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	14
2565		NRD171	Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties	14
2566	c	CNG263	Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs	14
2567	c	INT511	Intellectual Developmental Disorder, Autosomal Recessive 11	14
2568	c	CNG543	Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies	14
2569	c	ELN001	Elane-Related Neutropenia	13
2570	c	ORF054	Orofaciodigital Syndrome Xix	13
2571	c	ORF006	Orofaciodigital Syndrome 13	13
2572	c	ORF005	Orofaciodigital Syndrome 12	13
2573	c	HRS024	Hirschsprung Disease 9	13
2574	c	HRS026	Hirschsprung Disease 7	13
2575	c	HRS028	Hirschsprung Disease 6	13
2576		NRD167	Neurodevelopmental Disorder with Microcephaly, Short Stature, and Speech Delay	12
2577	c	HRS025	Hirschsprung Disease 8	12
2578	c	RRH009	Rare Hypothyroidism	12
2579	c	CNG591	Congenital Hypothyroidism Due to Developmental Anomaly	8
2580	c	ATS531	Autosomal Recessive Intellectual Developmental Disorder 75	6
2581	c	TRN076	Transient Congenital Hypothyroidism Due to Neonatal Factor	5
2582	c	HYP232	Hypothyroidism Due to Iodide Transport Defect	5
2583	c	TRN075	Transient Congenital Hypothyroidism Due to Maternal Factor	5
2584	c	ATS530	Autosomal Recessive Intellectual Developmental Disorder 34	5
2585	c	RRD014	Rare Adult Hypothyroidism	4
2586	c	BPL001	Bipolar Ll Disorder	4
2587	c	MCL042	Macular Degeneration, Age-Related, 1	82
2588		LPT014	Leptin Deficiency or Dysfunction	78
2589	P	PRS038	Personality Disorder	63
2590	P	OST001	Osteopetrosis	63
2591	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	61
2592	P	SNS001	Sensorineural Hearing Loss	59
2593	c	OST131	Osteopetrosis, Autosomal Dominant 2	58
2594	c	OST163