Neuronal Diseases Category (7450 diseases)

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

#	Family	MCID	Name	MIFTS
1		MNT304	Mental Retardation, X-Linked, with or Without Seizures, Arx-Related	34
2		NRT001	Neurotic Disorder	56
3		RYN006	Raynaud-Claes Syndrome	29
4		NRF026	Neurofibromatosis, Type Iv, of Riccardi	24
5	c	ADT007	Auditory Neuropathy, Autosomal Dominant, 1	34
6		BLM002	Bulimia Nervosa	56
7		NRF008	Neurofibromatosis-Noonan Syndrome	56
8		MLN001	Melanotic Neuroectodermal Tumor	33
9		NRD085	Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures	22
10		LGS001	Legius Syndrome	60
11	P	HYP441	Hyperphosphatasia with Mental Retardation Syndrome 1	42
12		CLR029	Clark-Baraitser Syndrome	49
13	P	GST047	Gastrointestinal Neuroendocrine Tumor	36
14		DVL031	Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects	26
15		BSL048	Basilicata-Akhtar Syndrome	24
16		DFN305	Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy	18
17		MTH079	Methylmalonic Acidemia and Homocysteinemia, Cblx Type	47
18		ATX010	Ataxia Neuropathy Spectrum	36
19		SML004	Small Intestine Neuroendocrine Neoplasm	27
20		SYN092	Syndromic X-Linked Intellectual Disability Cabezas Type	25
21		RLN001	Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked	23
22		OBS002	Obsessive-Compulsive Disorder	67
23	c	LPD015	Lipodystrophy, Familial Partial, Type 2	61
24	P	FML012	Familial Partial Lipodystrophy	54
25	c	LPD021	Lipodystrophy, Familial Partial, Type 3	45
26	c	LPD019	Lipodystrophy, Partial, Acquired	43
27	c	LPD034	Lipodystrophy, Familial Partial, Type 4	42
28	c	LPD030	Lipodystrophy, Familial Partial, Type 5	40
29	c	LPD036	Lipodystrophy, Familial Partial, Type 6	33
30	c	LPD040	Lipodystrophy, Familial Partial, Type 1	32
31	c	LPD044	Lipodystrophy, Familial Partial, Type 7	25
32	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	15
33		NSC005	Nescav Syndrome	40
34		NRN016	Neuronal Migration Disorders	40
35		46X083	46,xy Gonadal Dysgenesis with Minifascicular Neuropathy	34
36		NRD105	Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities	22
37		SZR029	Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications	21
38		ANR007	Anorexia Nervosa	59
39		BRN139	Brain Small Vessel Disease 1 with or Without Ocular Anomalies	53
40		NRN001	Neuroendocrine Carcinoma	47
41		RCT005	Rectum Neuroendocrine Neoplasm	35
42		LRY013	Laryngeal Neuroendocrine Tumor	30
43	P	NRD034	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant	29
44		NRG006	Neurogenic Thoracic Outlet Syndrome	27
45		PRM284	Primitive Neuroectodermal Tumor of the Cervix Uteri	26
46		ART164	Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect	24
47		ANL010	Anal Neuroendocrine Tumor	19
48		LWG004	Low-Grade Neuroendocrine Tumor of the Corpus Uteri	7
49		CHL005	Childhood Mediastinal Neurogenic Tumor	6
50		CHR174	Christianson Syndrome	47
51		CNV002	Conversion Disorder	47
52	c	TRC101	Trichothiodystrophy 4, Nonphotosensitive	41
53	c	TRC117	Trichothiodystrophy 6, Nonphotosensitive	20
54	c	TRC125	Trichothiodystrophy 7, Nonphotosensitive	19
55		NRD118	Neurodevelopmental Disorder with or Without Autism or Seizures	16
56		NRD117	Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities	15
57		NRD114	Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities	14
58		BCH004	Bachmann-Bupp Syndrome	31
59		NRG003	Neurogenic Arthropathy	42
60	P	ATS366	Autism X-Linked 2	41
61		KHR001	Kahrizi Syndrome	33
62		BRN049	Brain Tumor, Childhood	28
63		ESP009	Esophageal Neuroendocrine Tumor	25
64		LNG002	Lung Combined Large Cell Neuroendocrine Carcinoma	19
65		NRF025	Neurofibromatosis, Type Iii, Mixed Central and Peripheral	15
66	c	VSC056	Visceral Neuropathy, Familial, Autosomal Dominant	15
67		HND013	Handl Syndrome	14
68		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	44
69		ABC001	Abcd Syndrome	44
70		GLC024	Glucose Transporter Type 1 Deficiency Syndrome	38
71		TNN015	Tonne-Kalscheuer Syndrome	30
72		NRD051	Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness	23
73		ART166	Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum	22
74		CLN039	Cln4 Disease	18
75	c	HYP580	Hyperphosphatasia with Mental Retardation Syndrome 4	29
76		OVR005	Ovarian Large-Cell Neuroendocrine Carcinoma	29
77		MLL023	Mullegama-Klein-Martinez Syndrome	29
78	c	CNT068	Central Pain Syndrome	28
79		BRN142	Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis	27
80		PRM183	Primary Aldosteronism, Seizures, and Neurologic Abnormalities	26
81		NRD099	Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity	24
82		NRD039	Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language	24
83		NRD067	Neurodevelopmental Disorder with or Without Variable Brain Abnormalities	23
84		NRD081	Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies	23
85		NRD061	Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities	23
86		NRD073	Neurodevelopmental Disorder with Visual Defects and Brain Anomalies	23
87		NRD092	Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis	22
88		NRD040	Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter	22
89		NRD108	Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities	21
90		NRD095	Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities	20
91		MNT107	Mental Retardation, Fra12a Type	20
92		ECT113	Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies	19
93		NRD093	Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy	19
94		KRK002	Karak Syndrome	17
95		NRF027	Neurofacioskeletal Syndrome with or Without Renal Agenesis	15
96		END088	Endove Syndrome, Limb-Brain Type	14
97		ADS006	Aids - Neurological Complications	11
98	P	FTL001	Fetal Alcohol Syndrome	55
99		NRS003	Neurosyphilis	45
100	c	FTL006	Fetal Alcohol Spectrum Disorder	43
101		INT372	Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	32
102		HRT037	Heart and Brain Malformation Syndrome	32
103		AMY005	Amyloid Neuropathy	31
104		NRD038	Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy	30
105		HNM002	Hinman Syndrome	29
106		MNT320	Mental Retardation, Autosomal Dominant 6, with or Without Seizures	26
107		NRD059	Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy	24
108	c	NRD041	Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive	23
109		MNT283	Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly	22
110		NRD082	Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies	20
111		NRD042	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy	20
112	c	VSC054	Visceral Neuropathy, Familial, Autosomal Recessive	17
113	c	GRN056	Grin1-Related Neurodevelopmental Disorder	13
114		CNG458	Congenital Abducens Nerve Palsy	10
115		SYN081	Syndromic X-Linked Intellectual Disability Abidi Type	9
116		BNP001	Bone Peripheral Neuroepithelioma	9
117	P	VSC017	Visceral Neuropathy Familial	7
118		CLS051	Classic Neuroendocrine Tumor of Appendix	6
119		PRM283	Primitive Neuroectodermal Tumor of the Corpus Uteri	6
120		LPS008	Lupus - Neurological Sequelae	3
121		GLM045	Glioma	62
122		AGN018	Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome	58
123		WRN002	Wernicke-Korsakoff Syndrome	49
124		MNN028	Mononeuropathy of the Median Nerve, Mild	47
125		SPN020	Spondylosis	46
126		NRT011	Neurotrophic Keratopathy	36
127		CHR655	Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive	32
128		NRF016	Neurofibromatosis, Familial Spinal	29
129	P	PRR032	Pura-Related Neurodevelopmental Disorders	26
130		NRD023	Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language	26
131		PRF003	Piriformis Syndrome	25
132		GNT184	Genitourinary and/or Brain Malformation Syndrome	25
133		ENC050	Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities	25
134		NRD107	Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia	23
135		PGN002	Paganini-Miozzo Syndrome	21
136		NRD079	Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies	21
137		NRD071	Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements	21
138	c	INT364	Intellectual Developmental Disorder, Autosomal Recessive 72	21
139		NRD115	Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities	21
140		NRD089	Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies	20
141		NRD070	Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies	19
142		NRD049	Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures	19
143		NRD090	Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements	19
144		NRD112	Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities	19
145	c	GRN052	Grin2b-Related Neurodevelopmental Disorder	18
146		NRD113	Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities	17
147		NRD111	Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy	16
148		NRD110	Neurodevelopmental Disorder with Seizures and Brain Atrophy	16
149		CRN305	Corneal Neuropathic Disease	8
150		LYM055	Lyme Disease - Neurological Complications	6
151		MDS014	Mediastinum Neuroblastoma	5
152		ATN005	Autonomic Dysfunction	45
153	P	HYP265	Hypotonia	42
154		HYD065	Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies	34
155		BRS005	Breast Neuroendocrine Neoplasm	31
156		ALC002	Alcohol-Related Neurodevelopmental Disorder	30
157		SPN185	Spinal Cord Infarction	28
158		NRD029	Neurodevelopmental Disorder with Involuntary Movements	25
159		NRD052	Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures	24
160	c	BRN141	Brain Small Vessel Disease 3	23
161		NRD096	Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures	22
162		MGR035	Migraine with Brainstem Aura	22
163		LKN030	Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome	22
164		NRD044	Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features	21
165		NRD097	Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline	21
166		EPL170	Epilepsy-Aphasia Spectrum	21
167	c	INT398	Intellectual Developmental Disorder, Autosomal Recessive 12	20
168		NRM024	Neuromuscular Oculoauditory Syndrome	20
169		NRD060	Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia	19
170		MNT331	Mental Retardation, Autosomal Dominant 55, with Seizures	18
171		FLP002	Floppy Infant Syndrome	13
172		CLP007	Clpb Deficiency	13
173		BRN069	Brain and Spinal Tumors	11
174	c	CL4005	Col4a1-Related Brain Small-Vessel Disease	7
175	P	SYP003	Syphilis	59
176		HMR039	Hemorrhage, Intracerebral	57
177		APH002	Aphasia	55
178	c	CRN278	Craniosynostosis 1	55
179		APR001	Apraxia	51
180		CRB090	Cerebral Hypoxia	42
181	c	CNG033	Congenital Syphilis	39
182		SPN050	Spinocerebellar Degeneration	38
183		DSN001	De Sanctis-Cacchione Syndrome	38
184	c	SCN006	Secondary Syphilis	36
185		MTH026	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	36
186		HYP264	Hypertonia	35
187	c	LTC001	Late Congenital Syphilis	34
188	c	ERL002	Early Congenital Syphilis	32
189		MTC108	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	32
190	c	PRM022	Primary Syphilis	32
191		NRG001	Neurogenic Bowel	31
192		PRM205	Primary Hepatic Neuroendocrine Carcinoma	30
193	P	BRN140	Brain Small Vessel Disease 2	30
194		NRD080	Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities	28
195		CLN014	Colon Neuroendocrine Neoplasm	27
196		PDT043	Pediatric Acute-Onset Neuropsychiatric Syndrome	26
197		PRS017	Prostate Neuroendocrine Neoplasm	26
198		SPN424	Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits	25
199		INT369	Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type	25
200		PRP102	Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development	24
201		NRD086	Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia	24
202	P	NBS002	Nabais Sa-De Vries Syndrome, Type 2	23
203		MYC075	Myoclonus, Intractable, Neonatal	23
204		NRD106	Neurodegeneration, Infantile-Onset, Biotin-Responsive	23
205		PRS131	Prostate Cancer/brain Cancer Susceptibility	23
206		NRD094	Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation	23
207		NRD088	Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity	22
208		SRB001	Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy	21
209		ILL008	Ileal Neuroendocrine Tumor	20
210	c	NBS001	Nabais Sa-De Vries Syndrome, Type 1	20
211		RDL014	Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation	20
212		NRD098	Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures	19
213		CNG362	Congenital Trochlear Nerve Palsy	16
214		DPB002	Deep Brain Stimulation for Movement Disorders	16
215		PRN063	Peroneal Nerve, Accessory Deep	15
216		NRP006	Neuropathy, Congenital, with Arthrogryposis Multiplex	15
217		CNG457	Congenital Oculomotor Nerve Palsy	14
218		NRH002	Neurohypophysis Granular Cell Tumor	14
219		EFV001	Efavirenz, Poor Metabolism of	14
220		JJN009	Jejunal Neuroendocrine Tumor	14
221		MFN001	Mfn2 Hereditary Motor and Sensory Neuropathy	13
222		NRD123	Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia	13
223		HRD103	Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum	13
224		RRR001	Rere-Related Disorders	12
225		CTR173	Cataract, Ataxia, Short Stature, and Mental Retardation	12
226		CLL024	Colloid Cysts of Third Ventricle	11
227	c	MCR373	Mecr-Related Neurologic Disorder	11
228	c	MNT313	Mental Health Wellness 2	10
229		PRP096	Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain	9
230		HRD181	Hereditary Neuroendocrine Tumor of Small Intestine	7
231		SFT001	Soft Tissue Peripheral Neuroepithelioma	7
232		NRN043	Neuroendocrine Neoplasm of Esophagus	7
233		GJB007	Gjb1 Disorders: Charcot Marie Tooth Neuropathy and Central Nervous System Phenotypes	6
234		SCM002	Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities	6
235		ARN002	Arnold Stickler Bourne Syndrome	4
236		ART040	Arthrogryposis Epileptic Seizures Migrational Brain Disorder	4
237		MBS003	Moebius Axonal Neuropathy Hypogonadism	4
238		VSC023	Vasculitis Syndromes of the Central and Peripheral Nervous Systems	3
239	P	NRL026	Neurological Channelopathy of the Central Nervous System Due to a Genetic Chloride Channel Defect	2
240	c	NRL032	Neurological Channelopathy of the Central Nervous System Due to a Genetic Glycine Receptor Defect	2
241	c	NRL033	Neurological Channelopathy of the Central Nervous System Due to a Genetic Acetylcholine Receptor Defect	2
242	c	NRL034	Neurological Channelopathy of the Central Nervous System Due to a Genetic Gaba Receptor Defect	2
243		GNT173	Genetic Neurological Channelopathy of the Central Nervous System	2
244	c	NRL035	Neurological Channelopathy of the Central Nervous System Due to a Genetic Sodium Channel Defect	2
245	c	NRL036	Neurological Channelopathy of the Central Nervous System Due to a Genetic Calcium Channel Defect	2
246	c	NRL037	Neurological Channelopathy of the Central Nervous System Due to a Genetic Potassium Channel Defect	2
247		OCL069	Ocular Motor Apraxia	57
248	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	56
249		PST048	Postural Orthostatic Tachycardia Syndrome	46
250		PYR037	Pyruvate Carboxylase Deficiency	45
251		LPD009	Lipid Storage Disease	45
252	c	CRN320	Cornelia De Lange Syndrome 3 with or Without Midline Brain Defects	40
253		MGC007	Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations	32
254		CHR554	Chromosome 17q11.2 Deletion Syndrome	30
255		MNT269	Mental Retardation, X-Linked, Syndromic, Bain Type	30
256		CBL011	Cebalid Syndrome	29
257		OKR001	Okur-Chung Neurodevelopmental Syndrome	29
258		SQL002	Squalene Synthase Deficiency	27
259		XLN162	X-Linked Intellectual Disability, Najm Type	27
260		ATS309	Autosomal Dominant Leukodystrophy with Autonomic Disease	27
261		NRD037	Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies	26
262		NRD054	Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures	25
263		IMM146	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities	25
264	c	ALP109	Alopecia-Mental Retardation Syndrome 4	24
265		NRD083	Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies	24
266		NRD027	Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset	24
267		LKN018	Leukoencephalopathy, Progressive, with Ovarian Failure	24
268		MLT178	Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	24
269		SPR032	Superficial Siderosis of the Central Nervous System	23
270		STR112	Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis	23
271		NRD062	Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction	22
272		NRD063	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination	22
273		CLP002	Colpocephaly	22
274		NRD072	Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities	22
275		NRD069	Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment	22
276		PRR044	Poirier-Bienvenu Neurodevelopmental Syndrome	22
277		NRD068	Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia	22
278		MTB009	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	21
279		NRD046	Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities	21
280		INT311	Intellectual Developmental Disorder with Neuropsychiatric Features	21
281		INT374	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or Without Seizures	20
282	c	INT348	Intellectual Developmental Disorder, Autosomal Recessive 71	20
283		MCR371	Microcephaly, Growth Deficiency, Seizures, and Brain Malformations	20
284		MCR370	Macrocephaly, Acquired, with Impaired Intellectual Development	20
285		NRD066	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements	20
286	c	INT345	Intellectual Developmental Disorder, Autosomal Recessive 70	19
287		NRD104	Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities	19
288		INT391	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy	19
289	c	INT344	Intellectual Developmental Disorder, Autosomal Recessive 69	19
290	P	ALP110	Alopecia-Mental Retardation Syndrome	19
291		NRD078	Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity	19
292		GTD002	Gatad2b-Associated Neurodevelopmental Disorder	18
293		BRN112	Brain Dopamine-Serotonin Vesicular Transport Disease	18
294		DVL111	Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy	17
295		NRD119	Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism	16
296		NRD122	Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia	15
297		ATX047	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation	15
298		NRD121	Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures	14
299		LCL011	Localized Hypertrophic Neuropathy	14
300		NRD116	Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy	14
301		HTT003	Hiatt-Neu-Cooper Neurodevelopmental Syndrome	13
302		KLM001	Klumpke Paralysis	12
303	c	ADL083	Adult-Onset Citrullinemia Type I	11
304		ATS241	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons	7
305		LBR037	Leber Hereditary Optic Neuropathy with Demyelinating Disease of Cns	4
306	P	CRN037	Craniosynostosis	67
307	P	MTR004	Maturity-Onset Diabetes of the Young	66
308		CLF027	Cleft Palate, Isolated	64
309	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	62
310		PTS001	Patau Syndrome	55
311	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	54
312	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	53
313		ACR041	Acromelic Frontonasal Dysostosis	53
314		CVR006	Cavernous Hemangioma	51
315	P	CHR345	Chronic Pain	50
316		BRN071	Brain Injury	50
317		ASP004	Asphyxia Neonatorum	50
318		LRN003	Learning Disability	49
319		ALK024	Alkuraya-Kucinskas Syndrome	46
320	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	44
321	P	BRB001	Beriberi	44
322		CMB011	Combined Malonic and Methylmalonic Aciduria	43
323	P	CRN321	Cornelia De Lange Syndrome 4 with or Without Midline Brain Defects	42
324	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	42
325	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	41
326		DPR002	Depersonalization Disorder	41
327	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	41
328		MLY001	Molybdenum Cofactor Deficiency	40
329	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	40
330	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	39
331		PRS063	Paresthesia	39
332	P	DYS021	Dysautonomia	38
333		BRN134	Brain Malformations with or Without Urinary Tract Defects	38
334		SWL001	Swallowing Disorders	37
335	c	CRN277	Craniosynostosis 2	37
336	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	36
337		FTD001	Foot Drop	36
338	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	33
339		CMB002	Combat Disorder	33
340		CNG538	Congenital Arthrogryposis with Anterior Horn Cell Disease	32
341	c	CRN281	Craniosynostosis 7	30
342	c	CRN221	Craniosynostosis 4	30
343		CMB064	Combined Oxidative Phosphorylation Deficiency 24	29
344		CNG545	Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies	29
345		CMB041	Combined Oxidative Phosphorylation Deficiency 13	29
346		DVL024	Developmental Delay with or Without Dysmorphic Facies and Autism	27
347	c	CRN217	Craniosynostosis 3	26
348		SNJ003	Snijders Blok-Fisher Syndrome	25
349	c	CRN256	Craniosynostosis 6	24
350		WCK004	Wieacker-Wolff Syndrome, Female-Restricted	24
351		NRD077	Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies	24
352		SHK002	Shukla-Vernon Syndrome	22
353		AMY018	Amyotonia Congenita	22
354	c	INT336	Intellectual Developmental Disorder, Autosomal Recessive 68	22
355	c	INT388	Intellectual Developmental Disorder, Autosomal Dominant 62	21
356	c	CHD006	Chd2-Related Neurodevelopmental Disorders	21
357		SPN409	Spongiform Encephalopathy with Neuropsychiatric Features	21
358		NRD109	Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies	21
359		NRD043	Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities	21
360		EPL253	Epilepsy, Early-Onset, with or Without Developmental Delay	21
361		CNT067	Central Cord Syndrome	21
362		NRD084	Neurodevelopmental Disorder with Absent Language and Variable Seizures	20
363		NRD053	Neurodevelopmental Disorder with Spasticity and Poor Growth	20
364		HYD066	Hydrocephalus, Congenital, 3, with Brain Anomalies	20
365		NRD025	Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations	20
366		NRD045	Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills	20
367		CRB089	Cerebral Beriberi	19
368		MNS002	Mini Stroke	19
369		RTR023	Retroperitoneal Neuroblastoma	19
370		NRD076	Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly	19
371		BBB001	Bobble-Head Doll Syndrome	19
372		CMB101	Combined Oxidative Phosphorylation Deficiency 45	18
373		MTC224	Mitochondrial Complex Iv Deficiency, Nuclear Type 17	18
374		ABS003	Absence of Septum Pellucidum	18
375		RTN207	Retinopathy, Pigmentary, and Mental Retardation	18
376	c	CRB140	Cerebral Palsy, Spastic Quadriplegic, 2	18
377		BRS024	Breast Large Cell Neuroendocrine Carcinoma	18
378		NRD055	Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum	17
379		VCL007	Vocal Cord Paralysis and Ptosis	17
380	c	INT386	Intellectual Developmental Disorder, Autosomal Dominant 59	17
381		NRD035	Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures	16
382		SYR007	Syringohydromyelia	15
383		ALZ064	Alzahrani-Kuwahara Syndrome	15
384		PST054	Postinfectious Encephalomyelitis	15
385		NRP070	Neuropathy, Hereditary Motor, with Myopathic Features	14
386		OCL083	Oculogastrointestinal Neurodevelopmental Syndrome	13
387	c	DYS194	Dysautonomia-Like Disorder	12
388		INT090	Intellectual Deficit Buenos-Aires Type	11
389		STB003	Setbp1 Disorder	11
390		ALD006	Aldred Syndrome	10
391		KRS005	Korsakoff's Amnesic Syndrome	9
392	c	INT400	Intellectual Developmental Disorder, Autosomal Dominant 65	9
393		MLT076	Multiple System Atrophy with Orthostatic Hypotension	9
394		PLT009	Pili Torti Developmental Delay Neurological Abnormalities	8
395	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	7
396		SCR027	Sacral Nerve Root Cysts	7
397		HRD105	Hereditary Sensorimotor Neuropathy with Hyperelastic Skin	4
398	c	CRN093	Craniosynostosis Autosomal Dominant	3
399		NRL011	Neurological Consequences of Cytomegalovirus Infection	2
400		FCS002	Fucosidosis	61
401	P	HMN010	Hemangioma	61
402		PTT041	Pituitary Stalk Interruption Syndrome	54
403	P	DBT005	Diabetes Insipidus	54
404		ABN011	Abnormal Hair, Joint Laxity, and Developmental Delay	49
405		CLB026	Colobomatous Microphthalmia	48
406		HYP016	Hypochondriasis	47
407	P	PLL002	Pellagra	46
408	c	TRC103	Trichothiodystrophy 5, Nonphotosensitive	45
409		TRN022	Transcobalamin Ii Deficiency	44
410		MTC091	Mitochondrial Complex Iii Deficiency, Nuclear Type 2	43
411		HYP648	Hypertension and Brachydactyly Syndrome	42
412		BDY001	Body Dysmorphic Disorder	40
413		OHT001	Ohtahara Syndrome	39
414		CGN005	Cognitive Impairment with or Without Cerebellar Ataxia	38
415	P	PRS013	Prosopagnosia	37
416		SPS226	Spastic Paraplegia, Ataxia, and Mental Retardation	36
417		DYS003	Dysgraphia	35
418		7Q1002	7q11.23 Duplication Syndrome	33
419		MLD017	Mal De Debarquement Syndrome	33
420		PRS064	Persistent Vegetative State	33
421		ENC065	Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization	33
422		THY108	Thymic Neuroendocrine Tumor	32
423		PCH002	Pachygyria	31
424		GBM001	Gaba Aminotransferase Deficiency	31
425		DFF029	Diffuse Large B-Cell Lymphoma of the Central Nervous System	29
426		CRB169	Cerebellar Atrophy, Developmental Delay, and Seizures	29
427		CVR010	Cavernous Malformation	29
428		BRN137	Bronchial Neuroendocrine Tumor	29
429		INT333	Intellectual Developmental Disorder with Autism and Speech Delay	28
430		GNT004	Gnathomiasis	28
431		DDN005	Duodenal Somatostatinoma	28
432		SNJ002	Snijders Blok-Campeau Syndrome	28
433		HYP711	Hypotonia, Ataxia, and Delayed Development Syndrome	28
434		CHR506	Choroideremia, Deafness, and Mental Retardation	27
435		SYN079	Syndromic X-Linked Intellectual Disability Siderius Type	27
436		PRV020	Periventricular Heterotopia with Microcephaly, Autosomal Recessive	26
437	P	CRB125	Cerebral Palsy, Spastic Quadriplegic, 1	26
438		SHS001	Shashi-Pena Syndrome	26
439		CMB078	Combined Oxidative Phosphorylation Deficiency 32	25
440		GLY094	Glycine Encephalopathy with Normal Serum Glycine	25
441		JBR046	Jaberi-Elahi Syndrome	25
442		CRB205	Cerebellar Atrophy with Seizures and Variable Developmental Delay	24
443		LSS039	Lissencephaly 6 with Microcephaly	24
444		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	24
445	c	ATS358	Autism X-Linked 6	24
446	c	HRD156	Hereditary Central Diabetes Insipidus	24
447		CHL150	Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter	24
448	c	ATS268	Autism X-Linked 4	23
449		SPN187	Spinocerebellar Atrophy	23
450		PRS053	Parsonage Turner Syndrome	22
451		NZN001	Nizon-Isidor Syndrome	22
452	c	PRS058	Prosopagnosia, Hereditary	22
453		HLP032	Holoprosencephaly 13, X-Linked	22
454		INT371	Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	22
455		CLC058	Clcn2-Related Leukoencephalopathy	22
456		INT378	Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures	22
457		DDN028	Duodenal Neuroendocrine Tumor	22
458		NRP027	Neuropathy, Painful	21
459		MNN022	Meningoencephalocele	21
460	c	INF065	Infantile Hypotonia	21
461		INF132	Infantile Osteopetrosis with Neuroaxonal Dysplasia	21
462		HRS002	Hersh Podruch Weisskopk Syndrome	21
463		ILL003	Illum Syndrome	21
464	c	CRN216	Craniosynostosis 5	21
465		URM001	Uremic Neuropathy	20
466	P	NNP004	Nonphotosensitive Trichothiodystrophy	20
467		INT110	Intracranial Cysts	20
468	c	ACQ004	Acquired Hemangioma	20
469		KNN010	Kennerknecht Syndrome	20
470		MTC220	Mitochondrial Complex Iv Deficiency, Nuclear Type 12	20
471		SPN086	Spinal Intradural Arachnoid Cysts	19
472		GNT023	Gnathostoma Infection	19
473		LGH020	Li-Ghorbani-Weisz-Hubshman Syndrome	19
474		JJN001	Jejunal Somatostatinoma	19
475		RSS027	Russell-Silver Syndrome, X-Linked	19
476		MTC217	Mitochondrial Complex Iv Deficiency, Nuclear Type 8	19
477		MTC223	Mitochondrial Complex Iv Deficiency, Nuclear Type 16	19
478		INT347	Intellectual Developmental Disorder with Severe Speech and Ambulation Defects	19
479	c	CNG578	Congenital Hemangioma	18
480		INT387	Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures	18
481	c	GST091	Gastrointestinal Neuroendocrine Benign Tumor	18
482		HRS003	Hirschsprung Disease Ganglioneuroblastoma	18
483		EXT039	Extrapontine Myelinolysis	18
484		HYP707	Hypertrophic Olivary Degeneration	18
485	c	ACQ034	Acquired Central Diabetes Insipidus	18
486	c	MLG144	Malignant Hemangioma	18
487	c	INT393	Intellectual Developmental Disorder, Autosomal Dominant 64	17
488	c	PLL014	Pellagra-Like Syndrome	17
489		IDP081	Idiopathic Hypertrophic Pachymeningitis	17
490		MTC228	Mitochondrial Complex Iv Deficiency, Nuclear Type 21	17
491		SNR002	Sener Syndrome	17
492		IDP022	Idiopathic Spinal Cord Herniation	17
493		CRB053	Cerebellar Agenesis	16
494		MTC229	Mitochondrial Complex Ii Deficiency, Nuclear Type 2	16
495		ACT235	Acute Macular Neuroretinopathy	16
496		MSP003	Misophonia	16
497		NRN023	Neuroendocrine Cell Hyperplasia of Infancy	16
498		MNT315	Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism	16
499	c	ALP063	Alopecia-Mental Retardation Syndrome 3	16
500		SKL027	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal	15
501		GLL034	Gallbladder Neuroendocrine Tumor	15
502		CTS046	Cutis Verticis Gyrata and Mental Retardation	14
503		PNF002	Painful Legs and Moving Toes Syndrome	14
504		BRL013	Baralle-Macken Syndrome	14
505	P	ATP015	Atp1a3-Related Neurologic Disorders	13
506		CRM012	Cree Mental Retardation Syndrome	13
507		HYP671	Hypomyelination Neuropathy-Arthrogryposis Syndrome	13
508		ERB002	Erb's Palsy	13
509		OCL024	Ocular Neuromyotonia	13
510		INF124	Infundibulo-Neurohypophysitis	13
511		ECT104	Ectodermal Dysplasia with Mental Retardation and Syndactyly	13
512		MTR081	Motor Neuron Disease with Dementia and Ophthalmoplegia	13
513		HRS040	Hirsutism, Skeletal Dysplasia, and Mental Retardation	13
514		INT288	Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	13
515		XLN197	X-Linked Intellectual Disability-Plagiocephaly Syndrome	13
516		INT286	Intellectual Disability-Spasticity-Ectrodactyly Syndrome	12
517		NTR055	Ntrk1 Congenital Insensitivity to Pain with Anhidrosis	12
518		DWR021	Dwarfism, Mental Retardation, and Eye Abnormality	12
519		CCH008	Cochlear Nerve Deficiency	12
520		SCL044	Scalp Syndrome	12
521		HYP816	Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes	12
522		MND028	Mandibulofacial Dysostosis with Mental Retardation	12
523		NRN032	Neuroendocrine Tumor of Anal Canal	12
524		CHR628	Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type	12
525		MSC159	Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers	11
526		MBS006	Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	11
527		ART149	Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies	11
528		INT390	Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies	11
529		MNT039	Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block	11
530	c	SVR109	Severe Congenital Neutropenia 8	11
531		RCR030	Recurrent Idiopathic Neuroretinitis	11
532		CTR179	Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy	11
533		SPN388	Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy	11
534		NRV013	Nerve Growth Factor, Alpha Subunit	11
535		NRL021	Neurologic Disease, Infantile Multisystem, with Osseous Fragility	10
536		GNT082	Genetic Neuromuscular Disease	10
537		MDN009	Median-Ulnar Nerve Communications	10
538	c	DDX004	Ddx3x-Related Neurodevelopmental Disorder	10
539		ELC003	Electroencephalographic Pattern, Beta Frequency, Quantitative Trait Locus	10
540		NRP061	Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia	10
541		BSC002	Bscl2-Related Neurologic Disorders/seipinopathy	10
542		LRY052	Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy	10
543		PCS004	Pacs1 Neurodevelopmental Disorder	10
544		MYC032	Myoclonic Encephalopathy of Infants	10
545		VTL010	Vitiligo, Progressive, with Mental Retardation and Urethral Duplication	10
546		CRB178	Cerebellar Ataxia and Neurosensory Deafness	10
547		SCR041	Sucrosuria, Hiatus Hernia and Mental Retardation	9
548		MDD017	Middle Ear Neuroendocrine Tumor	9
549		CTS047	Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation	9
550		AMY015	Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation	9
551		OPH019	Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria	9
552		GNT083	Genetic Neurodegenerative Disease	9
553		NRP052	Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine	8
554		SCN086	Scn9a Neuropathic Pain Syndromes	8
555	P	CRN291	Cranial Nerves, Recurrent Paresis of	8
556		EPL197	Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation	8
557		CRT047	Creatine Kinase, Brain Type, Ectopic Expression of	8
558		EXT057	Extensive Peripapillary Myelinated Nerve Fibers	8
559		GRS015	Gars1-Associated Axonal Neuropathy	8
560		IND013	Indolylacroyl Glycinuria with Mental Retardation	8
561		CHD008	Chd4 Neurodevelopmental Disorder	8
562		LNT009	Lentiginosis, Centrofacial Neurodysraphic	8
563	c	PPP002	Ppp2r5d-Related Neurodevelopmental Disorder	8
564		NRP069	Neuro-Ophthalmological Disease	8
565		PSD115	Pseudouridinuria and Mental Defect	8
566		HYP778	Hypertrophic Neuropathy and Cataract	8
567		ALK018	Alk-Related Neuroblastic Tumor Susceptibility	7
568		MDF003	Modifier, X-Linked, for Neurofunctional Defects	7
569		CNT066	Central Cervical Cord Syndrome	7
570		PRG048	Progressive Locomotor Ataxia	7
571		GNT121	Genetic Cerebral Malformation	7
572	c	CRN290	Cranial Nerves, Congenital Paresis of	7
573		NRV014	Neurovisceral Storage Disease with Curvilinear Bodies	7
574		RRG042	Rare Genetic Neurological Disorder	7
575		BYL002	Boylan Dew Greco Syndrome	6
576		SPS183	Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome	6
577		NRP056	Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive	6
578		FBR095	Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation	6
579		SHR110	Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting	6
580		DSL004	Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation	5
581	c	FML158	Familial Hemangioma	5
582		HRD179	Hair Defect-Photosensitivity-Intellectual Disability Syndrome	5
583		MCR342	Microcephaly, Macrotia, and Mental Retardation	5
584		DRC003	Drachtman Weinblatt Sitarz Syndrome	5
585		LNR018	Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies	5
586		GLT033	Glutamic Acid Decarboxylase, Brain, Membrane Form	4
587		GNT187	Genetic Syndrome with a Central Nervous System Malformation As a Major Feature	4
588		SYN047	Syndromic Optic Nerve Hypoplasia	4
589		SYN094	Syndromic X-Linked Mental Retardation Hough Type	4
590		KZN001	Kuzniecky Andermann Syndrome	4
591		NRL012	Neurological Manifestations of Pompe Disease	4
592		GNT058	Genetic Neuro-Ophthalmological Disease	4
593	c	ATM108	Autoimmune/inflammatory Optic Neuropathy	4
594		RRC030	Rare Oculomotor Nerve Disorder	4
595		GST109	Gastroenteric Neuroendocrine Neoplasm	3
596		CRN091	Craniosynostosis Alopecia Brain Defect	3
597		SYP007	Syphilitic Spinal Sclerosis	3
598		GNT081	Genetic Central Nervous System Malformation	3
599		NRM007	Neuroma Biliary Tract	3
600		GNT110	Genetic Neurodegenerative Disease with Dementia	3
601		NRM020	Neuromuscular Disease with Dilated Cardiomyopathy	3
602		DSR017	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Peripheral Nerves Predominant Involvement	3
603		DSR018	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Central Nervous System Predominant Involvement	3
604		ATS441	Autosomal Ichthyosis Syndrome with Prominent Neurologic Signs	3
605		RRG039	Rare Genetic Autonomic Nervous System Disorder	3
606		RRG063	Rare Genetic Neuromuscular Disorder with Ocular Motility/alignment Anomaly	3
607		RRG067	Rare Genetic Ophthalmic Disorder with Cranial Nerve Involvement	3
608		NRN048	Neuroendocrine Tumor with Other Location	3
609		DFN018	Deafness Peripheral Neuropathy Arterial Disease	2
610		ATX012	Ataxias and Cerebellar or Spinocerebellar Degeneration	2
611		SCK039	Sucking/swallowing Disorder Associated with a Neuromuscular Disease	2
612		SCK044	Sucking/swallowing Disorder Associated with Neurologic Anomalies	2
613		GNT115	Genetic Neuroendocrine Tumor	2
614		GNT120	Genetic Non-Syndromic Central Nervous System Malformation	2
615		QLT010	Qualitative or Quantitative Protein Defects in Neuromuscular Diseases	2
616		LMN009	Laminopathy with Peripheral Neuropathy	2
617		GNT153	Genetic Neurovascular Malformation	2
618		IRF003	Irf2bpl- Related Regressive Neurodevelopmental Disorder-Dystonia-Seizures Syndrome	2
619		EPL007	Epilepsy Mental Deterioration Finnish Type	2
620		HYP234	Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response	2
621		CHR279	Chronic Demyelinizing Neuropathy with Igm Monoclonal	1
622		FCL024	Focal or Multifocal Malformations in Neuronal Migration	1
623		NRC007	Neuroectodermal Endocrine Syndrome	1
624		NRN007	Neuronal Interstitial Dysplasia	1
625		RTN074	Retinopathy Aplastic Anemia Neurological Abnormalities	1
626	c	AMY091	Amyotrophic Lateral Sclerosis 1	87
627	P	MLT020	Multiple Sclerosis	79
628		MYL069	Myeloma, Multiple	76
629		PHN003	Phenylketonuria	76
630	c	MCP050	Mucopolysaccharidosis, Type Ii	73
631		XRD010	Xeroderma Pigmentosum, Variant Type	72
632	c	TBR026	Tuberous Sclerosis 2	71
633		BHC003	Behcet Syndrome	70
634	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	70
635		WLS001	Wilson Disease	70
636	P	GCH001	Gaucher's Disease	69
637	c	MSM022	Mismatch Repair Cancer Syndrome 1	69
638	c	MCP001	Mucopolysaccharidosis Iii	69
639		MLT157	Multiple System Atrophy 1	69
640	P	KRB001	Krabbe Disease	69
641	P	TYS001	Tay-Sachs Disease	69
642	P	HYP802	Hypocalcemia, Autosomal Dominant 1	68
643		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	68
644	P	SPR120	Supranuclear Palsy, Progressive, 1	68
645		LWC002	Lowe Oculocerebrorenal Syndrome	68
646	P	FCS012	Facioscapulohumeral Muscular Dystrophy 1	68
647	P	CCK001	Cockayne Syndrome	67
648		CRB037	Cerebral Palsy	66
649		HRL003	Hurler Syndrome	66
650	P	KBK002	Kabuki Syndrome 1	66
651	P	MLG056	Malignant Hyperthermia	65
652	P	HRD008	Hereditary Hemorrhagic Telangiectasia	64
653	P	MCK013	Meckel Syndrome, Type 1	64
654		TTN003	Tetanus	64
655		CRN296	Carnitine Palmitoyltransferase Ii Deficiency, Infantile	64
656		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	63
657		TNG002	Tangier Disease	63
658	c	NMN013	Niemann-Pick Disease, Type a	63
659		LYM017	Lyme Disease	63
660	P	CHL002	Childhood Absence Epilepsy	62
661	P	MCH002	Machado-Joseph Disease	62
662	c	MCP049	Mucopolysaccharidosis, Type Vii	62
663	c	OPT053	Optic Atrophy 1	62
664		CRN239	Carnitine Deficiency, Systemic Primary	62
665	c	PRX045	Peroxisome Biogenesis Disorder 1b	61
666		TRG002	Trigeminal Neuralgia	61
667		CHN055	Chanarin-Dorfman Syndrome	61
668		HRP004	Herpes Zoster	60
669	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	60
670	P	PRP029	Porphyria	60
671	c	GLY003	Glycogen Storage Disease Iii	60
672		CHR066	Chronic Fatigue Syndrome	59
673		SNS008	Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis	59
674		CFF002	Coffin-Lowry Syndrome	59
675	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	59
676		DNN001	Danon Disease	59
677		STT001	Status Epilepticus	58
678		HRL004	Hurler-Scheie Syndrome	58
679	c	GLY007	Glycogen Storage Disease Iv	58
680		PRT058	Pure Autonomic Failure	58
681	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	58
682		MLN014	Melnick-Needles Syndrome	58
683		GYR004	Gyrate Atrophy of Choroid and Retina	58
684		STF001	Stiff-Person Syndrome	57
685		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	57
686		VCS001	Vici Syndrome	57
687		MXD005	Mixed Connective Tissue Disease	57
688		MTC207	Mitochondrial Complex Ii Deficiency, Nuclear Type 1	57
689	c	PRX059	Peroxisome Biogenesis Disorder 1a	57
690		GLY010	Glycine Encephalopathy	57
691		INS023	Insensitivity to Pain, Congenital, with Anhidrosis	56
692	P	HDC001	Headache	56
693	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	56
694	P	EXD001	Exudative Vitreoretinopathy	56
695		PLS011	Plasmacytoma	56
696	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	56
697	P	MYS005	Myositis	55
698		BRT005	Barth Syndrome	55
699	P	TMT001	Timothy Syndrome	55
700		INT030	Intracranial Aneurysm	55
701		UNV001	Unverricht-Lundborg Syndrome	55
702		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	54
703		FND002	Fundus Dystrophy	54
704		SPN041	Spinal Cord Disease	54
705		ALL001	Allan-Herndon-Dudley Syndrome	54
706		DBT010	Diabetic Neuropathy	54
707	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	53
708		HMP005	Hemiplegia	53
709		GNG004	Ganglioglioma	53
710		KRT006	Keratoconjunctivitis	53
711		MLT135	Multiple Sulfatase Deficiency	53
712		FCL014	Focal Epilepsy	53
713		NRT004	Neuritis	53
714		MLL018	Miller-Dieker Lissencephaly Syndrome	53
715		TRC023	Trichinosis	53
716	c	GCH016	Gaucher Disease, Type Ii	53
717	P	ATS011	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	52
718		JHN001	Johanson-Blizzard Syndrome	52
719	P	FBR031	Febrile Seizures	52
720		NRL004	Neuroleptic Malignant Syndrome	52
721		PRP016	Paraplegia	52
722		GLL048	Glial Tumor	51
723	c	ART119	Arthrogryposis, Distal, Type 5	51
724	P	MGR003	Migraine with Aura	51
725	P	THY054	Thyrotoxic Periodic Paralysis	51
726		MCR088	Microscopic Polyangiitis	51
727	P	BNG030	Benign Ependymoma	51
728		CHR078	Chorioretinitis	50
729		EXP004	Exophthalmos	50
730		DBT004	Diabetic Polyneuropathy	50
731	c	HRD173	Hereditary Late-Onset Parkinson Disease	50
732	c	ACT078	Acute Porphyria	50
733		CYT005	Cytomegalovirus Retinitis	50
734		QDR001	Quadriplegia	49
735		RYS001	Reye Syndrome	49
736		FCL012	Facial Paralysis	49
737	P	HLL001	Hallermann-Streiff Syndrome	49
738	P	OPT048	Opitz-Gbbb Syndrome	49
739		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	48
740		TRP002	Tropical Spastic Paraparesis	48
741		BHR002	Bohring-Opitz Syndrome	48
742	P	MGR001	Migraine Without Aura	48
743		PRL023	Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome	48
744		DBW001	Dubowitz Syndrome	48
745		INT010	Intracranial Embolism	48
746		CRY014	Cryptococcal Meningitis	48
747		OPD006	Opioid Addiction	48
748		DFF016	Diffuse Astrocytoma	48
749		BLL004	Bullous Keratopathy	48
750		MNN009	Meningoencephalitis	47
751	c	OPT050	Opitz Gbbb Syndrome, Type Ii	47
752		INT395	Intracranial Meningioma	47
753		WDM005	Wiedemann-Rautenstrauch Syndrome	47
754		SPN402	Spinal Muscular Atrophy, X-Linked 2	47
755	c	EPL073	Epilepsy, Nocturnal Frontal Lobe, 1	47
756		LNG015	Lingual-Facial-Buccal Dyskinesia	47
757		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	47
758		LBR025	Lobar Holoprosencephaly	47
759	P	CRN028	Corneal Ulcer	47
760	P	PLY020	Polyradiculoneuropathy	47
761		UND011	Undetermined Early-Onset Epileptic Encephalopathy	47
762		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	46
763		GNG008	Ganglioneuroblastoma	46
764		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	46
765		BCK003	Background Diabetic Retinopathy	46
766		ESN015	Eosinophilic Fasciitis	46
767	c	GM2006	Gm2 Gangliosidosis	46
768		KRT008	Keratopathy	46
769		FNG004	Fungal Meningitis	46
770	c	SPN312	Spinocerebellar Ataxia 14	46
771	c	ZLL011	Zellweger Spectrum Disorder	45
772		EPT021	Epithelial Recurrent Erosion Dystrophy	45
773		RTN023	Retinitis	45
774	c	RTN172	Retinitis Pigmentosa 1	45
775	c	PRK052	Parkinson Disease 17	45
776	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	45
777		SPN252	Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy	45
778		MNN020	Meningococcal Infection	44
779		OBS004	Obstructive Hydrocephalus	44
780	c	ATM099	Autoimmune Uveitis	44
781	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	44
782	P	GNT009	Giant Axonal Neuropathy	44
783		MDL020	Midline Interhemispheric Variant of Holoprosencephaly	44
784		LCK001	Locked-in Syndrome	44
785	P	WST004	West Nile Encephalitis	44
786		CSL001	Causalgia	44
787	c	JBR016	Joubert Syndrome 10	44
788		CHR543	Chromosome 2q37 Deletion Syndrome	43
789	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	43
790	c	ERL020	Early-Onset Schizophrenia	43
791	c	JBR031	Joubert Syndrome 21	43
792		MYC069	Myoclonic-Astastic Epilepsy	43
793		CRB009	Cerebritis	43
794	P	BRT047	Brittle Cornea Syndrome	43
795	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	43
796	c	HYP597	Hyperprolinemia, Type Ii	43
797	c	RTN143	Retinitis Pigmentosa 47	42
798	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	42
799	c	SPN265	Spinocerebellar Ataxia 36	42
800	P	CRN026	Corneal Edema	42
801	c	RTN066	Retinitis Pigmentosa 4	42
802	c	TRC100	Trichothiodystrophy 3, Photosensitive	42
803		RVL002	Ruvalcaba Syndrome	42
804		ELS006	Elsahy-Waters Syndrome	42
805		XRP001	Xerophthalmia	42
806	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	42
807		PHT008	Photosensitive Epilepsy	41
808	c	ART104	Arthrogryposis, Distal, Type 5d	41
809		FCL022	Focal Dystonia	41
810		AMY003	Amyotrophic Neuralgia	41
811		LWG006	Low Grade Glioma	41
812	P	CHR342	Chiari Malformation	41
813	c	LBR009	Leber Congenital Amaurosis 14	41
814	P	SPS008	Spastic Ataxia	41
815	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	41
816		CHL107	Childhood-Onset Nemaline Myopathy	41
817	c	TYR011	Tyrosinemia, Type Iii	41
818		PLL008	Pallister-Killian Syndrome	41
819		PHY002	Physical Disorder	40
820		MCR237	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive	40
821	P	PRK101	Parkinsonism-Dystonia, Infantile, 1	40
822		LNS001	Lens Subluxation	40
823		SCR001	Secretory Meningioma	40
824	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	40
825		PLM020	Pleomorphic Xanthoastrocytoma	39
826	c	DVL049	Developmental and Epileptic Encephalopathy 23	39
827		SPS004	Spastic Quadriplegia	39
828		SPN221	Spina Bifida Occulta	39
829	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	39
830	c	RTN048	Retinitis Pigmentosa 19	39
831		PRM056	Primrose Syndrome	39
832		CRP033	Corpus Callosum, Agenesis of, with Abnormal Genitalia	39
833		IDP031	Idiopathic Hypersomnia	39
834		FRY002	Fryns Syndrome	39
835		PLY158	Polyglucosan Body Neuropathy, Adult Form	39
836	c	RTN056	Retinitis Pigmentosa 28	39
837		LGH012	Leigh Syndrome with Leukodystrophy	39
838		HYP008	Hypertensive Retinopathy	39
839		EPL001	Epilepsy with Generalized Tonic-Clonic Seizures	39
840		CMB052	Combined Oxidative Phosphorylation Deficiency 20	39
841	c	ALT008	Alternating Hemiplegia of Childhood 1	39
842	c	ERL056	Early-Onset Parkinson's Disease	39
843		MYL057	Myelopathy, Htlv-1-Associated	39
844	c	RTN090	Retinitis Pigmentosa 55	39
845		PRS025	Presbyopia	39
846		SCR011	Scrapie	39
847		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	38
848	c	MCP051	Mucopolysaccharidosis, Type Ix	38
849	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	38
850	c	MCL041	Macular Degeneration, Age-Related, 7	38
851		AP4001	Ap-4-Associated Hereditary Spastic Paraplegia	38
852		ACT064	Acute Necrotizing Encephalitis	38
853		TMP012	Temple Syndrome	38
854		CNJ007	Conjunctivochalasis	38
855		MYX001	Myxopapillary Ependymoma	38
856		SPP007	Suppression Amblyopia	38
857	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	38
858	c	LBR011	Leber Congenital Amaurosis 16	38
859		MNN001	Meningeal Melanocytoma	38
860		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	38
861		CRT055	Creatine Deficiency Syndromes	38
862	c	PRM092	Primary Lateral Sclerosis, Adult, 1	38
863	c	RTN176	Retinitis Pigmentosa 71	38
864	c	CNR016	Cone-Rod Dystrophy 7	38
865		FBR064	Febrile Infection-Related Epilepsy Syndrome	38
866		ATX023	Ataxia, Sensory, 1, Autosomal Dominant	38
867	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	38
868		TRG019	Trigonocephaly with Short Stature and Developmental Delay	38
869		GLS004	Glossopharyngeal Neuralgia	37
870		HYP084	Hypopyon	37
871	c	EXD012	Exudative Vitreoretinopathy 7	37
872	c	RTN052	Retinitis Pigmentosa 23	37
873	c	DYS067	Dystonia 6, Torsion	37
874		UNL002	Unilateral Retinoblastoma	37
875		ALG001	Algoneurodystrophy	37
876	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	37
877	c	RTS002	Ritscher-Schinzel Syndrome 2	37
878		HRP025	Herpes Simplex Virus Keratitis	37
879		HYP026	Hypoglycemic Coma	37
880	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	37
881		SPT016	Septopreoptic Holoprosencephaly	37
882		KNZ001	Kanzaki Disease	37
883		INT053	Intracranial Vasospasm	37
884	c	RTN177	Retinitis Pigmentosa 73	37
885		CHR079	Choroid Disease	37
886		RNG003	Ring Dermoid of Cornea	37
887	c	BLP048	Blepharospasm, Benign Essential	36
888		GRN055	Granular Corneal Dystrophy	36
889		PST086	Posterior Cortical Atrophy	36
890		NWF001	Newfoundland Rod-Cone Dystrophy	36
891	P	DCR004	Dacryocystitis	36
892		INT003	Intracranial Hypotension	36
893		ESN006	Eosinophilic Meningitis	36
894		SVR002	Severe Nonproliferative Diabetic Retinopathy	36
895		MLT150	Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia	36
896		ARC023	Arcus Corneae	36
897	c	EPL236	Epilepsy, Idiopathic Generalized 15	36
898		PRN022	Perineurioma	36
899		CMP006	Complex Partial Epilepsy	36
900		DBT081	Diabetic Encephalopathy	36
901		DCR002	Dacryocystocele	36
902	c	DVL059	Developmental and Epileptic Encephalopathy 33	36
903	c	JBR022	Joubert Syndrome 20	36
904		CRT009	Critical Illness Polyneuropathy	36
905		CHR043	Chronic Inflammatory Demyelinating Polyneuritis	36
906		CRN288	Corneal Dystrophy, Band-Shaped	36
907		SYR010	Syringomyelia, Noncommunicating Isolated	36
908	c	ACR091	Aicardi-Goutieres Syndrome 4	35
909	c	B4G002	B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	35
910		CRB036	Cerebral Meningioma	35
911	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	35
912	P	HYP700	Hypomyelinating Leukodystrophy	35
913		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	35
914		HMP030	Haemophilus Meningitis	35
915		RCR001	Recurrent Corneal Erosion	35
916		TYP026	Typical Congenital Nemaline Myopathy	35
917	c	THY084	Thyrotoxic Periodic Paralysis 1	35
918	c	RTN171	Retinitis Pigmentosa 59	35
919		MLN009	Melanotic Neurilemmoma	35
920		INC003	Inclusion Conjunctivitis	35
921	c	DVL067	Developmental and Epileptic Encephalopathy 42	35
922		ADM001	Adamantinous Craniopharyngioma	35
923		PRF002	Perforated Corneal Ulcer	35
924		VRN001	Vernal Conjunctivitis	35
925	c	KLF005	Kleefstra Syndrome 2	35
926	P	MYC026	Myoclonus Epilepsy	35
927		BLT001	Bilateral Retinoblastoma	34
928	c	JVN009	Juvenile Pilocytic Astrocytoma	34
929		TBL035	Tubulinopathy	34
930		CNT106	Centralopathic Epilepsy	34
931		GNT006	Giant Papillary Conjunctivitis	34
932	c	JBR037	Joubert Syndrome 26	34
933		LRG003	Large Cell Medulloblastoma	34
934		PRG090	Progressive Relapsing Multiple Sclerosis	34
935		MCR183	Microcephaly-Capillary Malformation Syndrome	34
936		RTN006	Retinal Drusen	34
937		SYD002	Sydenham Chorea	34
938	c	HYP519	Hyperekplexia 3	34
939		WTT002	Witteveen-Kolk Syndrome	34
940		ANS006	Anosognosia	34
941		CLS049	Classic Phenylketonuria	34
942		AMN007	Aminoacylase 1 Deficiency	33
943		CHL006	Childhood Oligodendroglioma	33
944		GLF001	Gliofibroma	33
945	P	VCT008	Vacterl with Hydrocephalus	33
946		ATX039	Ataxia-Pancytopenia Syndrome	33
947	c	RTN134	Retinitis Pigmentosa 40	33
948		CRB028	Cerebellar Medulloblastoma	33
949		CHR362	Chromosome 17q21.31 Duplication Syndrome	33
950		CRN022	Corneal Degeneration	33
951		CHR028	Chronic Wasting Disease	33
952		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	33
953		PPL019	Papillary Conjunctivitis	33
954		ACT022	Acute Retinal Necrosis Syndrome	33
955		LKC002	Leukocoria	33
956		CLS047	Classic Progressive Supranuclear Palsy Syndrome	33
957		PRX009	Paroxysmal Hemicrania	33
958		ALT003	Alternating Exotropia	33
959		MRN002	Mooren's Ulcer	33
960	P	RDC010	Reducing Body Myopathy	33
961	c	CNR017	Cone-Rod Dystrophy 9	33
962		OPH001	Ophthalmomyiasis	32
963		RHB002	Rhabdoid Meningioma	32
964		CRB026	Cerebellar Astrocytoma	32
965		HRP037	Herpes Zoster Oticus	32
966		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	32
967		IRR001	Irregular Astigmatism	32
968	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	32
969	c	RTN186	Retinitis Pigmentosa 75	32
970	c	MCL036	Macular Degeneration, Age-Related, 6	32
971		RBS002	Rubeosis Iridis	32
972		ADL053	Adult Astrocytic Tumour	32
973	c	EPL096	Epilepsy, Nocturnal Frontal Lobe, 5	32
974	P	SCP010	Scapuloperoneal Myopathy	32
975		PPL050	Papillary Tumor of the Pineal Region	32
976	c	EPL209	Epilepsy, Idiopathic Generalized 10	32
977	c	EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	32
978	c	EPL188	Epilepsy, Progressive Myoclonic, 10	32
979		PHR002	Pharyngoconjunctival Fever	32
980	c	KBK003	Kabuki Syndrome 2	32
981		PNG001	Pinguecula	32
982		GMS001	Gemistocytic Astrocytoma	32
983	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	32
984	c	RTN169	Retinitis Pigmentosa 70	32
985		PST103	Postpartum Psychosis	31
986		XLN206	X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	31
987		ANT007	Anterior Horn Cell Disease	31
988		DYS001	Dyskinetic Cerebral Palsy	31
989	c	INF019	Infectious Anterior Uveitis	31
990	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	31
991		VTR002	Vitreous Syneresis	31
992		CLR011	Clear Cell Ependymoma	31
993		PRX090	Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy	31
994		PRT006	Partial Motor Epilepsy	31
995		DGN002	Degenerative Myopia	31
996		ANS004	Anisometropia	31
997	c	JVN038	Juvenile Myasthenia Gravis	31
998		CBB005	Cobblestone Lissencephaly	31
999		FRN003	Frontal Convexity Meningioma	31
1000	c	RTN178	Retinitis Pigmentosa 72	31
1001		CRT069	Cortical Malformations, Occipital	31
1002	c	RNG008	Ring Chromosome 13	31
1003		PSD006	Pseudopterygium	30
1004	c	GLY017	Glycogen Storage Disease Ic	30
1005	c	EPL155	Epilepsy, Progressive Myoclonic, 8	30
1006	c	CNR026	Cone-Rod Dystrophy 18	30
1007	c	EPL202	Epilepsy, Nocturnal Frontal Lobe, 2	30
1008		RTN013	Retinal Hemangioblastoma	30
1009		CRB015	Cerebellar Angioblastoma	30
1010	c	PRM015	Primary Cerebellar Degeneration	30
1011	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	30
1012	c	GLM043	Glioma Susceptibility 9	30
1013	c	RTN065	Retinitis Pigmentosa 36	30
1014	c	INF185	Infantile Epilepsy Syndrome	30
1015	P	VTR008	Vitreoretinal Degeneration	30
1016	c	GLM025	Glioma Susceptibility 2	30
1017		PPL013	Papillary Ependymoma	30
1018		MNC001	Monocular Esotropia	30
1019	c	EPL200	Epilepsy, Childhood Absence 1	30
1020	c	GLC100	Glaucoma 1, Open Angle, D	30
1021		SKR001	Skraban-Deardorff Syndrome	30
1022		PRX035	Paroxysmal Dyskinesia	30
1023		CNJ001	Conjugate Gaze Palsy	30
1024	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	30
1025	c	EPL165	Epilepsy, Idiopathic Generalized 14	30
1026		CRN009	Corneal Ectasia	30
1027		INT082	Intraocular Retinoblastoma	30
1028		CRB005	Cerebral Arteritis	29
1029	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	29
1030		CHR055	Chordoid Meningioma	29
1031		RDG001	Red-Green Color Blindness	29
1032	P	FML258	Familial Acute Necrotizing Encephalopathy	29
1033		LST003	Listeria Meningitis	29
1034		FLM001	Filamentary Keratitis	29
1035		PPL009	Papillary Craniopharyngioma	29
1036		CHR281	Chronic Hiccups	29
1037	c	CTR119	Cataract 32, Multiple Types	29
1038		CLL001	Cellular Schwannoma	29
1039		NSY001	N Syndrome	29
1040		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	29
1041	c	EPL205	Epilepsy, Idiopathic Generalized 13	29
1042	c	MYP088	Myopathy, Tubular Aggregate, 2	29
1043	c	ALZ031	Alzheimer Disease 17	29
1044	c	EPL098	Epilepsy, Idiopathic Generalized 12	29
1045	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	29
1046	c	EPL091	Epilepsy, Idiopathic Generalized 3	29
1047		RST024	Rosette-Forming Glioneuronal Tumor	29
1048		ANS018	Anismus	29
1049		TNY001	Tanycytic Ependymoma	29
1050		NDL008	Nodular Episcleritis	29
1051		XLN235	X-Linked Intellectual Disability with Marfanoid Habitus	29
1052	P	NNT006	Neonatal Myasthenia Gravis	29
1053		WSS006	Weiss-Kruszka Syndrome	29
1054		PLX004	Plexopathy	29
1055		SPS134	Spasmodic Dystonia	28
1056		CRN128	Corneal Dystrophy, Endothelial, X-Linked	28
1057		SBD001	Subdural Empyema	28
1058		PLC004	Pilocytic Astrocytoma of Cerebellum	28
1059		NCL001	Nuclear Senile Cataract	28
1060		PNP001	Panophthalmitis	28
1061	c	CHR088	Chronic Inflammation of Lacrimal Passage	28
1062	c	PRX091	Peroxisome Biogenesis Disorder 8a	28
1063		CRB017	Cerebral Falx Meningioma	28
1064	c	EPS037	Episodic Ataxia, Type 4	28
1065		ODN024	O'donnell-Luria-Rodan Syndrome	28
1066	c	SPS021	Spastic Paraplegia 10	28
1067	c	EPL204	Epilepsy, Nocturnal Frontal Lobe, 4	28
1068		HMD003	Hemidystonia	28
1069	c	EPL086	Epilepsy, Idiopathic Generalized 9	28
1070		CMB071	Combined Oxidative Phosphorylation Deficiency 27	28
1071	c	THY083	Thyrotoxic Periodic Paralysis 2	28
1072		SPN340	Spontaneous Intracranial Hypotension	28
1073		CHR077	Chorioretinal Scar	28
1074		ANG050	Angiocentric Glioma	28
1075		SGM008	Segmental Dystonia	28
1076		FCL007	Facial Neuralgia	28
1077	c	RCR002	Recurrent Hypersomnia	28
1078	c	DVL094	Developmental and Epileptic Encephalopathy 70	28
1079		PST113	Posterior Fossa Ependymoma	28
1080	c	CTR158	Cataract 37	27
1081		TRN011	Transient Refractive Change	27
1082		IMM002	Immature Cataract	27
1083	c	RNG007	Ring Chromosome 12	27
1084	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	27
1085		MYP099	Myopathy, Isolated Mitochondrial, Autosomal Dominant	27
1086		SLR002	Solar Retinopathy	27
1087		PHT002	Photokeratitis	27
1088		MCR001	Microcystic Meningioma	27
1089		PHL001	Phlyctenulosis	27
1090	c	SCH080	Schizophrenia 3	27
1091	c	EPS014	Episodic Ataxia, Type 3	27
1092		PSD004	Pseudomembranous Conjunctivitis	27
1093		MNN024	Meningitis and Encephalitis	27
1094		PRS120	Persistent Idiopathic Facial Pain	27
1095		PLL004	Pallister W Syndrome	27
1096	P	OVR096	Overlap Myositis	27
1097	P	JVN001	Juvenile Astrocytoma	27
1098		CMP017	Camptocormism	27
1099		CHL062	Childhood Pilocytic Astrocytoma	26
1100		PRR019	Perioral Myoclonia with Absences	26
1101		DPT001	Dipetalonemiasis	26
1102		LCR001	Lacrimal Duct Obstruction	26
1103	c	CTR180	Cataract 22, Multiple Types	26
1104		PLY110	Polymicrogyria, Bilateral Temporooccipital	26
1105		ANG009	Angiomatous Meningioma	26
1106		HYP048	Hypotropia	26
1107		MSL004	Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis	26
1108	c	MYP127	Myopia 2, Autosomal Dominant	26
1109		EPT025	Epithelial Basement Membrane Dystrophy	26
1110		STR086	Stromal Dystrophy	26
1111	c	CFF012	Coffin-Siris Syndrome 7	26
1112	c	LTH047	Lethal Congenital Contracture Syndrome 3	26
1113		EXP002	Exposure Keratitis	26
1114		TTR027	Tetrasomy 15q26	26
1115	c	GLY093	Glycogen Storage Disease Ixa	26
1116	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	26
1117	P	HYP821	Hypermanganesemia with Dystonia	26
1118		CHL058	Childhood Electroclinical Syndrome	26
1119	c	ENC061	Encephalopathy, Acute, Infection-Induced 2	26
1120		PRS024	Parasagittal Meningioma	26
1121		MCR039	Macrophagic Myofasciitis	26
1122		INT310	Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis	26
1123	c	DVL071	Developmental and Epileptic Encephalopathy 46	26
1124	c	CTR116	Cataract 15, Multiple Types	25
1125		INT009	Intracranial Abscess	25
1126		TRN002	Transitional Meningioma	25
1127		MRG002	Marginal Corneal Ulcer	25
1128		DNC009	Diencephalic Astrocytoma	25
1129		NNT041	Neonatal Period Electroclinical Syndrome	25
1130		MYC001	Myoclonic Cerebellar Dyssynergia	25
1131	c	RNG013	Ring Chromosome 18	25
1132	c	CFF006	Coffin-Siris Syndrome 5	25
1133		MYP149	Myopathy, Mitochondrial, and Ataxia	25
1134		SHP003	Shapiro Syndrome	25
1135		EPL021	Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders	25
1136		CNJ002	Conjunctival Folliculosis	25
1137		MNN004	Meningothelial Meningioma	25
1138	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	25
1139	c	MRG014	Meier-Gorlin Syndrome 6	25
1140	c	CRN280	Cornea Plana 2, Autosomal Recessive	25
1141		CVR001	Cavernous Sinus Meningioma	25
1142		CRN004	Corneal Abscess	25
1143		EXT029	Extraocular Retinoblastoma	25
1144		SPC030	Specific Language Disorder	25
1145	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	25
1146		LNG113	Liang-Wang Syndrome	25
1147		VST003	Vestibular Nystagmus	25
1148	c	ATS432	Autosomal Dominant Distal Myopathy	24
1149		STR002	Streptococcal Meningitis	24
1150		SND005	Sandifer Syndrome	24
1151	P	PRD017	Periodic Paralyses	24
1152	c	EPL084	Epilepsy, Idiopathic Generalized 11	24
1153	c	BSL030	Basal Encephalocele	24
1154		ADL051	Adolescence-Adult Electroclinical Syndrome	24
1155		ARG003	Argyll Robertson Pupil	24
1156	c	NYS004	Nystagmus 3, Congenital, Autosomal Dominant	24
1157		KHN002	Khan-Khan-Katsanis Syndrome	24
1158		CGN001	Cogan-Reese Syndrome	24
1159		OCC008	Occipital Neuralgia	24
1160		CNT063	Continuous Spike-Wave During Slow Sleep Syndrome	24
1161		BRD008	Borderline Glaucoma	24
1162		MYP165	Myopathy, Epilepsy, and Progressive Cerebral Atrophy	24
1163		PRM050	Primary Orthostatic Tremor	24
1164		LGP003	Logopenic Progressive Aphasia	24
1165		HRD019	Hereditary Choroidal Atrophy	24
1166	c	CHR094	Chronic Polyneuropathy	24
1167	c	MYP138	Myopia 3, Autosomal Dominant	24
1168	c	CRB217	Cerebellar Ataxia Type 42	24
1169		ACC003	Accommodative Esotropia	24
1170		CRB023	Cerebellopontine Angle Meningioma	24
1171		CHR703	Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb	23
1172		ACT065	Acute Hemorrhagic Encephalitis	23
1173		DSS001	Disseminated Chorioretinitis	23
1174		BRC002	Brachial Plexus Neuritis	23
1175		HYP722	Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	23
1176		OCL070	Oculopalatocerebral Syndrome	23
1177		LTR007	Lateral Ventricle Meningioma	23
1178	c	ACT229	Acute Necrotizing Encephalopathy Type 1	23
1179		OPH003	Ophthalmia Nodosa	23
1180		SDN002	Sudanophilic Cerebral Sclerosis	23
1181		EXP001	Expressive Language Disorder	23
1182	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	23
1183	c	MLT094	Multiple Sclerosis 3	23
1184		CNG005	Congenital Aphakia	23
1185		CTR107	Cataract 13 with Adult I Phenotype	23
1186		STX005	Stxbp1 Encephalopathy	23
1187		INF033	Infancy Electroclinical Syndrome	23
1188	c	SCH082	Schizophrenia 5	23
1189		INT058	Intraorbital Meningioma	23
1190		DSS006	Disuse Amblyopia	23
1191		PDT016	Pediatric Infratentorial Ependymoma	23
1192		CRB018	Cerebral Lipidosis	23
1193		ABN003	Abnormal Threshold of Rods	23
1194	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	23
1195	c	RST020	Restless Legs Syndrome 6	23
1196		PRT005	Protoplasmic Astrocytoma	23
1197		BNG077	Benign Idiopathic Neonatal Seizures	23
1198	c	PRK096	Parkinson Disease 13, Autosomal Dominant	23
1199		HYP047	Hypertropia	22
1200	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	22
1201		PRN018	Paraneoplastic Polyneuropathy	22
1202	c	ATS451	Autosomal Recessive Cutis Laxa Type 2	22
1203		MCD002	Mcdonough Syndrome	22
1204	c	EPL092	Epilepsy, Idiopathic Generalized 2	22
1205	c	MYC085	Myoclonic Epilepsy, Juvenile 3	22
1206		SPR168	Supratentorial Ependymoma	22
1207		PDT002	Pediatric Meningioma	22
1208		MXD001	Mixed Cerebral Palsy	22
1209		PHC001	Phacolytic Glaucoma	22
1210		CRT003	Cortical Senile Cataract	22
1211		XLN236	X-Linked Intellectual Disability-Epilepsy Syndrome	22
1212		MNN016	Mononeuritis of Upper Limb and Mononeuritis Multiplex	22
1213		NWN001	New-Onset Refractory Status Epilepticus	22
1214	c	ENC037	Encephalopathy, Acute, Infection-Induced 6	22
1215	c	ERL044	Early-Onset Posterior Polar Cataract	22
1216		SCL014	Scleral Staphyloma	22
1217		PRL018	Purulent Endophthalmitis	22
1218	c	CHR060	Chronic Dacryocystitis	22
1219		CYC003	Cyclotropia	22
1220		BSL005	Basal Ganglia Cerebrovascular Disease	22
1221		RTN216	Retinitis Pigmentosa 82 with or Without Situs Inversus	21
1222	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	21
1223		RTC007	Reticular Perineurioma	21
1224		VTR001	Vitreoretinal Dystrophy	21
1225		PRT032	Partial Central Choroid Dystrophy	21
1226		SHK001	Shaken Baby Syndrome	21
1227		MLT132	Multifocal Dystonia	21
1228		LWR016	Lowry-Maclean Syndrome	21
1229		SPR019	Superficial Keratitis	21
1230		SCH031	Scholte Syndrome	21
1231	c	ZKV002	Zika Virus Congenital Syndrome	21
1232	c	KMT002	Kmt2b-Related Dystonia	21
1233		EXT009	Extratemporal Epilepsy	21
1234		SPN356	Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia	21
1235		CRN309	Cranial Neuralgia	21
1236	c	CTR106	Cataract 20, Multiple Types	21
1237	c	ATS369	Autism 8	21
1238	c	EPL093	Epilepsy, Idiopathic Generalized 7	21
1239		SCH025	Schisis Association	21
1240	c	EPL137	Epilepsy, Childhood Absence 6	21
1241	P	MNK007	Menke-Hennekam Syndrome	21
1242		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	21
1243		ART154	Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development	21
1244	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	21
1245		CHR051	Chorea Gravidarum	21
1246		CRN225	Cranio-Facial Dystonia	21
1247		PRN068	Paraneoplastic Limbic Encephalitis	21
1248	c	SCH086	Schizophrenia 11	21
1249		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	21
1250	c	ACT037	Acute Dacryocystitis	21
1251		CHR368	Chromosome Xp11.23-P11.22 Duplication Syndrome	21
1252		PRM187	Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	21
1253		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	21
1254	c	ACQ002	Acquired Night Blindness	20
1255		HMP027	Hemiparkinsonism-Hemiatrophy Syndrome	20
1256		CRN076	Crane-Heise Syndrome	20
1257		BLL005	Bullous Retinoschisis	20
1258	P	DNC006	Diencephalic-Mesencephalic Junction Dysplasia	20
1259		CRN007	Corneal Staphyloma	20
1260		HYP188	Hypnic Headache	20
1261	c	ENC063	Encephalopathy, Acute, Infection-Induced 7	20
1262	c	RTN214	Retinitis Pigmentosa 81	20
1263	c	RTN218	Retinitis Pigmentosa 84	20
1264		PNL003	Pineal Region Meningioma	20
1265		CNJ010	Conjunctival Degeneration	20
1266	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	20
1267	c	CTR159	Cataract 35	20
1268	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	20
1269		IDP006	Idiopathic Corneal Edema	20
1270		MNN006	Meninges Hemangiopericytoma	20
1271		KYB001	Kaya-Barakat-Masson Syndrome	20
1272		IDP067	Idiopathic Hemiconvulsion-Hemiplegia Syndrome	20
1273		FCL013	Focal Chorioretinitis	20
1274		FRL002	Froelich Syndrome	20
1275	c	CRB222	Cerebellar Ataxia Type 9	20
1276	c	PLY008	Polyneuropathy Due to Drug	20
1277	c	RNG021	Ring Chromosome 5	20
1278	c	LPR023	Leprosy 1	20
1279	c	RNG012	Ring Chromosome 17	20
1280		13Q001	13q12.3 Microdeletion Syndrome	20
1281		XLN191	X-Linked Hereditary Ataxia	20
1282		SPN092	Spinal Shock	20
1283		9Q3002	9q33.3q34.11 Microdeletion Syndrome	19
1284		DPK001	Deep Keratitis	19
1285	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	19
1286		UNL006	Unilateral Focal Polymicrogyria	19
1287	P	CNG515	Congenital Zika Syndrome	19
1288		CHR053	Chronic Follicular Conjunctivitis	19
1289		XQ2003	Xq25 Duplication Syndrome	19
1290		BSL043	Basal Ganglia Calcification, Idiopathic, Childhood-Onset	19
1291	c	CV3001	Cav3-Related Distal Myopathy	19
1292	c	RNG019	Ring Chromosome 3	19
1293	c	PRG145	Progressive Myoclonus Epilepsy 6	19
1294	c	DYS058	Dystonia 15, Myoclonic	19
1295	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	19
1296		CNJ011	Conjunctival Deposit	19
1297		MDD001	Middle Cranial Fossa Meningioma	19
1298	c	CNG433	Congenital Cornea Plana	19
1299	c	DYS184	Dystonia 17, Torsion, Autosomal Recessive	19
1300		RGL001	Regular Astigmatism	19
1301		PRM157	Primary Progressive Freezing Gait	19
1302		ABN001	Abnormal Retinal Correspondence	19
1303	c	ANR046	Aniridia 3	19
1304		ISL154	Isolated Exencephaly	19
1305	c	MCR363	Microcephaly 23, Primary, Autosomal Recessive	19
1306	c	MCR382	Microcephaly 26, Primary, Autosomal Dominant	19
1307	c	ENC062	Encephalopathy, Acute, Infection-Induced 5	19
1308	c	EPL090	Epilepsy, Idiopathic Generalized 5	18
1309	c	SPS022	Spastic Paraplegia 12	18
1310		HYP659	Hypomyelinating Leukoencephalopathy	18
1311		RSD002	Residual Stage of Open Angle Glaucoma	18
1312		LMB057	Lumbosacral Spina Bifida Aperta	18
1313		MCR311	Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome	18
1314		EPT024	Epithelial-Stromal Tgfbi Dystrophy	18
1315		17Q012	17q24.2 Microdeletion Syndrome	18
1316		MCL029	Macular Degeneration, X-Linked Atrophic	18
1317		ANP028	Anaplastic/large Cell Medulloblastoma	18
1318	c	MYP144	Myopia 12, Autosomal Dominant	18
1319	c	MLT095	Multiple Sclerosis 4	18
1320	c	GLC051	Glaucoma 1, Open Angle, M	18
1321	c	TRD001	Tardbp-Related Amyotrophic Lateral Sclerosis	18
1322		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	18
1323		UPP008	Upper Thoracic Spina Bifida Aperta	17
1324		THR085	Thoracolumbosacral Spina Bifida Aperta	17
1325		INT008	Intermittent Squint	17
1326		TRG017	Trigeminal Trophic Syndrome	17
1327		7P2001	7p22.1 Microduplication Syndrome	17
1328		CMP066	Complement Component 8 Deficiency	17
1329		EPT023	Epithelial and Subepithelial Dystrophy	17
1330	c	PRK022	Parkinson Disease 12	17
1331		21Q001	21q22.11q22.12 Microdeletion Syndrome	17
1332	c	ATS461	Autosomal Dominant Cerebellar Ataxia Type I	17
1333		SPN113	Spinocerebellar Ataxia with Dysmorphism	17
1334		ZBR001	Zebra Body Myopathy	17
1335	c	SPS034	Spastic Paraplegia 26	17
1336		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	17
1337		BNG078	Benign Paroxysmal Torticollis of Infancy	17
1338	c	MGR042	Migraine with or Without Aura 13	17
1339		JGL001	Jugular Foramen Meningioma	17
1340		IGG013	Igg4-Related Pachymeningitis	17
1341	c	ATS170	Autism 19	17
1342	c	MYP133	Myopia 18, Autosomal Recessive	17
1343		20P002	20p13 Microdeletion Syndrome	17
1344		RLN004	Rolandic Epilepsy-Speech Dyspraxia Syndrome	17
1345		LTH036	Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome	17
1346	c	INF047	Infantile Free Sialic Acid Storage Disease	17
1347	c	MTC014	Mitochondrial Dna Deletion Syndromes	16
1348	c	CMP088	Camptodactyly Syndrome, Guadalajara, Type Iii	16
1349	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	16
1350	c	RTN208	Retinopathy, Pericentral Pigmentary, Autosomal Recessive	16
1351		MLT155	Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	16
1352	c	CNG563	Congenital Myopathy with Cores	16
1353		3P2001	3p25.3 Microdeletion Syndrome	16
1354	c	EPL208	Epilepsy, Idiopathic Generalized 8	16
1355		CTR171	Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome	16
1356	c	CHR688	Chronic Acquired Demyelinating Polyneuropathy	16
1357	c	EPL247	Epilepsy, Idiopathic Generalized 16	16
1358		RLF001	Rela Fusion-Positive Ependymoma	16
1359		PCS003	Pacs1 Syndrome	16
1360	c	MYP069	Myopia 14	16
1361		MYC030	Myoclonic Epilepsy Myopathy Sensory Ataxia	16
1362		ALT004	Alternating Esotropia	16
1363	c	MXD051	Mixed Cryoglobulinemia Type Ii	16
1364		ITR003	Iatrogenic Creutzfeldt-Jakob Disease	16
1365		EXT050	Extraneural Perineurioma	16
1366	c	MGR023	Migraine Without Aura 4	16
1367		MRF018	Marfanoid Habitus with Microcephaly and Glomerulonephritis	16
1368		MCR300	Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	16
1369		VTR004	Vitreous Abscess	16
1370		CRB032	Cerebral Convexity Meningioma	16
1371	c	MCH014	Machado-Joseph Disease Type 2	15
1372	c	CHR035	Chronic Dacryoadenitis	15
1373	c	MYP143	Myopia 11, Autosomal Dominant	15
1374		MLT154	Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type	15
1375	c	FCL050	Facial Paresis, Hereditary Congenital, 2	15
1376		TRG013	Trigeminal Autonomic Cephalalgia	15
1377	c	ATS373	Autism 11	15
1378		ABN004	Abnormal Pupillary Function	15
1379		ANP032	Anaplastic Pleomorphic Xanthoastrocytoma	15
1380	c	SCN003	Secondary Corneal Edema	15
1381		PRX084	Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia	15
1382		EXP003	Exophthalmic Ophthalmoplegia	15
1383	c	SPS032	Spastic Paraplegia 24	15
1384	c	MRR012	Mirror Movements 3	15
1385		ENC045	Encephalopathy, Recurrent, of Childhood	15
1386	c	NRC012	Narcolepsy 4	15
1387	c	MGR038	Migraine with or Without Aura 10	15
1388	c	HNT014	Huntington Disease-Like Syndrome Due to C9orf72 Expansions	15
1389		CNS012	Cono-Spondylar Dysplasia	15
1390	c	MCR282	Microcephaly and Chorioretinopathy 1	15
1391		FNG010	Fingerprint Body Myopathy	15
1392		RDT014	Radiation Myelitis	14
1393	c	EPL186	Epilepsy, Juvenile Myoclonic 9	14
1394		MYC004	Mycotic Corneal Ulcer	14
1395		SCR022	Sacral Meningocele Conotruncal Heart Defects	14
1396		SPS093	Spastic Diplegia Cerebral Palsy	14
1397	c	LTN017	Late-Infantile/juvenile Krabbe Disease	14
1398		GLY074	Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset	14
1399	c	PNT056	Pontocerebellar Hypoplasia, Type 15	14
1400		PLY127	Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	14
1401		PHK006	Phakomatosis Pigmentokeratotica	14
1402		CMB094	Combined Dystonia	14
1403		VNB001	Van Benthem-Driessen-Hanveld Syndrome	14
1404	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	14
1405		DRL001	Dural Sinus Malformation	14
1406	c	EPL089	Epilepsy, Idiopathic Generalized 4	14
1407		CNG472	Congenital Insensitivity to Pain with Severe Intellectual Disability	14
1408		CHR152	Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism	14
1409	c	SPS029	Spastic Paraplegia 19	14
1410		PHR010	Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome	14
1411	P	RTN200	Retinopathy, Pericentral Pigmentary, Dominant	14
1412		SCL041	Sclerosing Perineurioma	14
1413		CHR170	Choroid Plexus Cyst	14
1414		RCS010	Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	14
1415		SPS047	Spastic Paraplegia with Precocious Puberty	14
1416		16P011	16p12.1p12.3 Triplication Syndrome	14
1417		SPN015	Spinal Polio	14
1418	c	SPR166	Sporadic Fatal Insomnia	14
1419		ARC020	Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	14
1420	c	DVL119	Developmental and Epileptic Encephalopathy 6b	13
1421	c	PST110	Posterior Corneal Dystrophy	13
1422		EPL095	Epilepsy with Myoclonic Absences	13
1423		KNJ001	Kunjin Encephalitis	13
1424		ATS112	Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity	13
1425	c	SPS035	Spastic Paraplegia 29	13
1426	c	KCN020	Kcnt1-Related Epilepsy	13
1427		PLZ008	Pelizaeus-Merzbacher Disease, Transitional Form	13
1428		SYM015	Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers	13
1429		ATY052	Atypical Timothy Syndrome	13
1430		FMR019	Fmr1 Disorders	13
1431		RTN102	Retinitis Pigmentosa, Y-Linked	13
1432	c	ANT021	Anterior Foramen Magnum Meningioma	13
1433	c	PRG144	Progressive Myoclonus Epilepsy 1b	13
1434		11P002	11p15.4 Microduplication Syndrome	13
1435	P	HRD194	Hereditary Geniospasm	13
1436		SPS045	Spastic Paraplegia Facial Cutaneous Lesions	13
1437	c	DPD002	Depdc5-Related Epilepsy	13
1438	c	SPS024	Spastic Paraplegia 14	12
1439		TRM021	Tremor, Nystagmus, and Duodenal Ulcer	12
1440	c	CLD017	Cold-Induced Sweating Syndrome 3	12
1441		ATX036	Ataxia-Photosensitivity-Short Stature Syndrome	12
1442	c	RST015	Restless Legs Syndrome 4	12
1443	c	RRH030	Rare Headache	12
1444		TMR022	Tumor of Meninges	12
1445		MNN015	Mononeuritis of Lower Limb	12
1446	c	SPR097	Sporadic Hyperekplexia	12
1447		LMB001	Lumbosacral Plexus Lesion	12
1448		INT294	Intellectual Disability-Short Stature-Hypertelorism Syndrome	12
1449		SLC037	Slc35a2-Congenital Disorder of Glycosylation	12
1450	c	CNG253	Congenital Communicating Hydrocephalus	12
1451	P	TRS005	Torsion Dystonia with Onset in Infancy	12
1452		PST111	Posterior Fossa Malformation	12
1453		ANR041	Aniridia-Intellectual Disability Syndrome	12
1454		ZLL010	Zellweger-Like Syndrome Without Peroxisomal Anomalies	12
1455		ATT023	Attenuated Chediak-Higashi Syndrome	12
1456		CHR706	Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	12
1457	c	SPS161	Spastic Paraplegia 32	12
1458	c	RST021	Restless Legs Syndrome 5	12
1459		NNP018	Non-Paraneoplastic Limbic Encephalitis	12
1460		PTT005	Pituitary Stalk Meningioma	12
1461	c	ANR023	Aneurysm, Intracranial Berry, 7	12
1462		ATM088	Autoimmune Encephalopathy with Parasomnia and Obstructive Sleep Apnea	12
1463		INT228	Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	12
1464		RBL002	Rubella Panencephalitis	12
1465		SYP002	Syphilitic Encephalitis	11
1466		XLN156	X-Linked Intellectual Disability, Golabi-Ito-Hall Type	11
1467		INT227	Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	11
1468	P	MDS020	Mediastinal Neurilemmoma	11
1469		CNG459	Congenital Myopathy with Myasthenic-Like Onset	11
1470	P	ISL045	Isolated Focal Cortical Dysplasia Type I	11
1471		TTN002	Tetanic Cataract	11
1472		CRN194	Cranial Meningocele	11
1473		TDD001	Todd's Paralysis	11
1474		TPT004	Tapetoretinal Degeneration with Ataxia	11
1475	c	MGR025	Migraine with Aura 7	11
1476		XLN101	X-Linked Complex Spastic Paraplegia	11
1477	c	KLH005	Klhl9-Related Early-Onset Distal Myopathy	11
1478		IDP040	Idiopathic Eosinophilic Myositis	11
1479		ATS233	Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	11
1480		MLL015	Mills Syndrome	11
1481	c	ISL040	Isolated Focal Cortical Dysplasia Type Ia	11
1482	c	NYS019	Nystagmus, Congenital, Autosomal Recessive	10
1483	c	CHR689	Chronic Polyradiculoneuropathy	10
1484	c	CHR061	Chronic Canaliculitis	10
1485		INT396	Internal Carotid Absence	10
1486		PRP108	Paraparetic Variant of Guillain-Barre Syndrome	10
1487		CNG516	Congenital Cervical Spinal Stenosis	10
1488		HYP062	Hypopyon Ulcer	10
1489		CRN002	Corneal Argyrosis	10
1490	P	ACT026	Acute Canaliculitis	10
1491		ADL033	Adult Papillary Meningioma	10
1492	c	MGR027	Migraine with Aura 9	10
1493		PRG076	Progressive Cavitating Leukoencephalopathy	10
1494		FRR002	Ferro-Cerebro-Cutaneous Syndrome	10
1495		XLN210	X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	10
1496		HST002	Histoplasmosis Retinitis	10
1497	c	ATS403	Autosomal Dominant Intellectual Disability 40	10
1498		HTR024	Htra1-Related Cerebral Small Vessel Disease	9
1499		XLN207	X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome	9
1500		SMP006	Simple Cryoglobulinemia	9
1501	c	PST025	Posterior Dislocation of Lens	9
1502		CTH001	Cathepsin a-Related Arteriopathy-Strokes-Leukoencephalopathy	9
1503		CYN006	Cyanide-Induced Parkinsonism-Dystonia	9
1504		EQT001	Equatorial Staphyloma	9
1505	P	ANT012	Anterior Dislocation of Lens	9
1506		STP001	Staphyloma Posticum	9
1507		CRY020	Cryptogenic Late-Onset Epileptic Spasms	9
1508		AXN006	Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy	9
1509	c	ATS437	Autosomal Dominant Spastic Ataxia	9
1510	c	HLL012	Hallermann-Streiff-Like Syndrome	9
1511	P	RCR003	Recurrent Peripheral Facial Palsy	9
1512		BNG092	Benign Infantile Focal Epilepsy with Midline Spikes and Waves During Sleep	9
1513		GLB012	Glioblastoma Proneural Subtype	8
1514		CPN001	C-P Angle Neurinoma	8
1515		NDL004	Nodular Degeneration of Cornea	8
1516		BNG090	Benign Nocturnal Alternating Hemiplegia of Childhood	8
1517		RDT016	Radiation-Induced Plexopathy	8
1518	c	ISL038	Isolated Focal Cortical Dysplasia Type Ib	8
1519		GNC007	Gonococcal Keratitis	8
1520		SYM001	Sympathetic Neurilemmoma	8
1521		PHL004	Phlegmonous Dacryocystitis	8
1522		INC032	Inclusion Myopathy	8
1523		SMP001	Simple Partial Epilepsy	8
1524	c	NNS090	Non-Syndromic X-Linked Intellectual Disability 82	8
1525	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	8
1526	P	EPP001	Epiphora Due to Insufficient Drainage	8
1527		BNG011	Benign Shuddering Attacks	7
1528		ACQ003	Acquired Tear Duct Stenosis	7
1529		SNG013	Single-Organ Polyarteritis Nodosa	7
1530		ANG003	Angelucci's Syndrome	7
1531	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	7
1532		ACT005	Acute Hydrops Keratoconus	7
1533		PRG012	Progressive Peripheral Pterygium	7
1534		ARC019	Arachnodactyly - Intellectual Disability - Dysmorphism	7
1535		RGN006	Regional Variant of Guillain-Barre Syndrome	7
1536	c	PRM322	Primary Myoclonus	7
1537		MDS004	Mediastinum Leiomyoma	7
1538	c	PST023	Posterior Foramen Magnum Meningioma	7
1539		UPP001	Upper Clivus Meningioma	7
1540		NND013	Non-Dystrophic Myopathy	7
1541		MDL030	Medulloblastoma Wnt Activated	6
1542	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	6
1543	c	ATS153	Autosomal Recessive Pure Spastic Paraplegia	6
1544	c	NNS091	Non-Syndromic X-Linked Intellectual Disability 88	6
1545		PDT010	Pediatric Intraocular Retinoblastoma	6
1546		GSS001	Gasserian Ganglion Meningioma	6
1547		PDT013	Pediatric Extraocular Retinoblastoma	6
1548		CPH001	Cephalic Disorders	6
1549		BNG083	Benign Focal Seizures of Adolescence	6
1550		EXT049	Extramedullary Soft Tissue Plasmacytoma	6
1551	c	SPS172	Spastic Ataxia 7	6
1552		RNG002	Ring Corneal Ulcer	6
1553		CNJ008	Conjunctival Concretion	6
1554	c	PST012	Posterior Corneal Pigmentation	6
1555		LCL001	Localized Anterior Staphyloma	6
1556		EPL031	Epileptic Hemiplegia	6
1557	c	MCR283	Microcephaly and Chorioretinopathy 2	6
1558		MDL031	Medulloblastoma Shh Activated	6
1559		MNN003	Mononeuritis of Upper Limb	6
1560		DPL002	Diplegia of Upper Limb	6
1561	c	NNS075	Non-Syndromic X-Linked Intellectual Disability 20	6
1562	c	NNS079	Non-Syndromic X-Linked Intellectual Disability 84	6
1563		CHL154	Childhood-Onset Epilepsy Syndrome	6
1564		MNC005	Monocular Exotropia	5
1565		MDS016	Mediastinal Melanocytic Neurilemmoma	5
1566		PDT017	Pediatric Infratentorial Ependymoblastoma	5
1567	c	ATS179	Autosomal Recessive Cerebral Atrophy	5
1568		GNT165	Genetic Cerebral Small Vessel Disease	5
1569		MLF009	Malformation of the Cerebellar Vermis	5
1570		MCL004	Macular Keratitis	5
1571	P	ANT008	Anterior Corneal Pigmentation	5
1572		EXT011	Extrapyramidal and Movement Disease	5
1573		GNC004	Gonococcal Iridocyclitis	5
1574		PHL002	Philophthalmiasis	5
1575		MDL034	Medulloblastoma Non-Wnt/non-Shh	5
1576		IDP007	Idiopathic Progressive Polyneuropathy	5
1577		FLT003	Flat Retinoschisis	5
1578		CLS018	Classic Paraneoplastic Limbic Encephalitis	5
1579		HRD119	Hereditary Inclusion Body Myopathy Type 4	5
1580		MYC061	Myoclonic Epilepsy in Non-Progressive Encephalopathies	5
1581	c	NNS080	Non-Syndromic X-Linked Intellectual Disability 89	5
1582	c	LSS019	Lissencephaly with Cerebellar Hypoplasia Type E	5
1583	c	LSS022	Lissencephaly with Cerebellar Hypoplasia Type D	5
1584		SCH013	Schwannoma of Ureter	5
1585		ANT015	Anatomical Narrow Angle Borderline Glaucoma	5
1586		STR016	Steroid-Induced Glaucoma - Borderline	5
1587		EPD007	Epidural Spinal Canal Angiolipoma	5
1588		PPL011	Papillary Meningioma of the Cerebellum	5
1589		SCH006	Schwannoma of Jugular Foramen	5
1590		SPN023	Spinal Multifocal Clear Cell Meningioma	5
1591	c	ISL039	Isolated Focal Cortical Dysplasia Type Ic	5
1592		2P1003	2p13.2 Microdeletion Syndrome	5
1593		ATS449	Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome	5
1594		MCR280	Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	5
1595		NLX008	Neu-Laxova Syndrome Due to 3-Phosphoserine Phosphatase Deficiency	5
1596		ISL079	Isolated Encephalocele	5
1597		LCR003	Lacrimal Passage Granuloma	4
1598		STB001	Stable Condition Keratoconus	4
1599		RSD001	Residual Stage Angle-Closure Glaucoma	4
1600		PRN013	Perineural Angioma	4
1601		ISL106	Isolated Congenital Microcephaly	4
1602		MDL033	Medulloblastoma Shh Activated and Tp53 Wild-Type	4
1603		CNT008	Contact Lens Corneal Edema	4
1604	P	PRM007	Primary Lacrimal Atrophy	4
1605		PRT004	Partial Sensory Epilepsy	4
1606	c	CTR008	Cataract Congenital Autosomal Dominant	4
1607		CNG234	Congenital Myopathy, Paradas Type	4
1608		FNC064	Functional Variant of Guillain-Barre Syndrome	4
1609		XLN238	X-Linked Congenital Disorder of Glycosylation with Intellectual Disability As a Major Feature	4
1610		PRD032	Periodic Paralysis with Transient Compartment-Like Syndrome	4
1611		MDL029	Medullar Disease	4
1612	c	RDC017	Reducing Body Myopathy 1a	4
1613		CRP024	Corpus Callosum Oligodendroglioma	4
1614		EPD008	Epidural Spinal Canal Meningioma	4
1615		CDQ002	Cauda Equina Intradural Extramedullary Astrocytoma	4
1616	c	ISL052	Isolated Total Cerebellar Vermis Agenesis	4
1617	c	PRR041	Pure or Complex Autosomal Dominant Spastic Paraplegia	4
1618	c	SYS074	Systemic Diseases with Anterior Uveitis	4
1619	P	NNT056	Neonatal Epilepsy Syndrome	4
1620		OTH025	Other Syndrome with Lissencephaly As a Major Feature	4
1621	c	DDX001	Ddx3x-Related Intellectual Disability	4
1622	c	GLC029	Glaucoma Type 1c	4
1623		BWM001	Bowman's Membrane Folds or Rupture	4
1624		RNG001	Ring Staphyloma	4
1625		STN003	Stenosis of Lacrimal Passage	4
1626		PRP014	Peripheral Degeneration of Cornea	4
1627		SMP002	Simple Chronic Conjunctivitis	4
1628		GNC008	Gonococcal Endophthalmia	4
1629		RSC002	Rosacea Conjunctivitis	4
1630	c	FRG005	Fragile X Syndrome Type 2	4
1631	c	SYS075	Systemic Diseases with Panuveitis	4
1632	c	INF176	Infectious Disease with Epilepsy	4
1633	c	INF177	Inflammatory and Autoimmune Disease with Epilepsy	4
1634		MDL032	Medulloblastoma Shh Activated and Tp53 Mutant	4
1635	P	MDL035	Medulloblastoma Non-Wnt/non-Shh Group 3	4
1636		OCL054	Ocular Motor Apraxia, Cogan Type	4
1637		PHT005	Phthisical Cornea	4
1638		PRP012	Peripheral Focal Chorioretinitis	4
1639		DYS010	Dystrophies Primarily Involving the Retinal Pigment Epithelium	4
1640		TCT001	Tactile Epilepsy	4
1641		PRT016	Partial Circumpapillary Choroid Dystrophy	4
1642		CNT022	Central Gyrate Choroidal Dystrophy	4
1643		TTL003	Total Circumpapillary Dystrophy of Choroid	4
1644	c	MCR059	Microcephaly with Chorioretinopathy, Autosomal Dominant Form	4
1645	c	ARX003	Arx-Related Epileptic Encephalopathy	4
1646		OLG023	Oligoastrocytic Tumor	4
1647		PNL022	Pineal Parenchymal Tumor of Intermediate Differenciation	4
1648	c	ACT242	Acute and Subacute Inflammatory Demyelinating Polyneuropathy	4
1649		PRR043	Pure or Complex X-Linked Spastic Paraplegia	4
1650		CNG568	Congenital Disorder of Glycosylation with Epilepsy As a Major Feature	4
1651		NNX001	Non-X-Linked Congenital Disorder of Glycosylation with Intellectual Disability As a Major Feature	4
1652		CLD015	Cold-Induced Sweating Syndrome-Hyperthermia Spectrum	4
1653		PRM328	Primary Orthostatic Disorder	4
1654		BNG080	Benign Childhood Occipital Epilepsy, Gastaut Type	4
1655		ALP080	Alpha-Crystallinopathy	4
1656		PLM197	Pleomorphic Xanthoastrocytoma Braf Mutant	3
1657		RTN009	Retinal Dystrophies Primarily Involving Bruch's Membrane	3
1658		CHR044	Chronic Toxic Polyneuropathy	3
1659		STR013	Stroma-Dominant and Stroma-Poor Composite Ganglioneuroblastoma	3
1660		SCH005	Schwannian Stroma-Rich and Stroma-Poor Composite Ganglioneuroblastoma	3
1661		RMS003	Ramsay Hunt Syndrome I	3
1662		SYN102	Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature	3
1663		LTH040	Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome	3
1664		EVR001	Eversion of Lacrimal Punctum	3
1665		STN002	Stenosis of Lacrimal Punctum	3
1666	c	EPP002	Epiphora Due to Excess Lacrimation	3
1667	c	SCN002	Secondary Lacrimal Atrophy	3
1668		STN001	Stenosis of Lacrimal Sac	3
1669		DFF008	Diffuse Secondary Choroid Atrophy	3
1670		SNL006	Senile Atrophy of Choroid	3
1671		ANG008	Angioid Streaks of Choroid	3
1672		RSD003	Residual Stage Corticosteroid-Induced Glaucoma	3
1673		EPL256	Epilepsy and/or Ataxia with Myoclonus As a Major Feature	3
1674		PRS141	Persistent Combined Dystonia	3
1675		CL4011	Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Hemorrhagic Tendancy	3
1676		CL4012	Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Ischemic Tendancy	3
1677		ADL098	Adolescent-Onset Epilepsy Syndrome	3
1678		ISL159	Isolated Melanotic Schwannoma	3
1679		RTN007	Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses	3
1680		ENC071	Encephaloclastic Disorder	3
1681		CHR685	Chromosomal Anomaly with Epilepsy As a Major Feature	2
1682		CRB206	Cerebral Malformation with Epilepsy	2
1683		ACQ060	Acquired Peripheral Movement Disorder	2
1684		MTL006	Metal Transport or Utilization Disorder with Epilepsy	2
1685		NNP020	Non Progressive Epilepsy and/or Ataxia with Myoclonus As a Major Feature	2
1686		PST108	Postinfectious Autoimmune Disease with Chorea	2
1687		SPH020	Sphingolipidosis with Epilepsy	2
1688		ATS457	Autosomal Recessive Syndromic Cerebellar Ataxia	2
1689		GRN066	Grin2b-Related Developmental Delay, Intellectual Disability and Autism Spectrum Disorder	2
1690		ERB001	Erb-Duchenne and Dejerine-Klumpke Palsies	1
1691		EWN003	Ewing Sarcoma	69
1692		ALP100	Alpha-Thalassemia/mental Retardation Syndrome, X-Linked	62
1693	c	FVL008	Foveal Hypoplasia 2	27
1694		INT319	Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	40
1695	c	DFN352	Deafness, Autosomal Recessive 8	37
1696	c	HYP553	Hyperphosphatasia with Mental Retardation Syndrome 3	24
1697		NRG002	Neurogenic Bladder	54
1698	c	DFN136	Deafness, Autosomal Dominant 9	46
1699	c	DFN133	Deafness, Autosomal Recessive 9	45
1700	c	DFN200	Deafness, Autosomal Dominant 17	43
1701	c	DFN203	Deafness, Autosomal Recessive 30	41
1702	c	DFN117	Deafness, Autosomal Dominant 15	37
1703	c	DFN182	Deafness, Autosomal Recessive 71	36
1704	c	NNS007	Nonsyndromic Deafness	36
1705	c	ATS006	Autosomal Recessive Nonsyndromic Deafness	36
1706	c	DFN111	Deafness, Autosomal Recessive 35	35
1707	c	DFN280	Deafness, Autosomal Recessive	35
1708	c	DFN155	Deafness, Autosomal Dominant 41	34
1709	c	DFN259	Deafness, Autosomal Recessive 86	34
1710	c	DFN360	Deafness, Autosomal Dominant 69	34
1711	c	DFN260	Deafness, Autosomal Recessive 89	32
1712	c	DFN119	Deafness, Autosomal Dominant 50	32
1713	c	DFN248	Deafness, Autosomal Recessive 18b	31
1714	c	DFN192	Deafness, Autosomal Dominant 23	31
1715	c	DFN254	Deafness, Autosomal Recessive 84b	30
1716	c	DFN246	Deafness, Autosomal Dominant 51	30
1717	c	DFN099	Deafness, Autosomal Dominant 2b	30
1718	c	DFN179	Deafness, Autosomal Recessive 62	29
1719	c	DFN277	Deafness, Autosomal Recessive 102	29
1720	c	DFN148	Deafness, Autosomal Dominant 16	28
1721	c	DFN118	Deafness, Autosomal Dominant 44	28
1722	c	DFN183	Deafness, Autosomal Recessive 83	27
1723	c	DFN152	Deafness, Autosomal Dominant 27	26
1724	c	ATS380	Autosomal Recessive Nonsyndromic Deafness 36	25
1725	c	DFN160	Deafness, Autosomal Dominant 52	25
1726	c	DFN173	Deafness, Autosomal Recessive 40	25
1727	c	DFN030	Deafness, Autosomal Recessive 55	25
1728	c	DFN149	Deafness, Autosomal Dominant 18	24
1729	c	DFN164	Deafness, Autosomal Recessive 13	24
1730	c	ATS005	Autosomal Dominant Nonsyndromic Deafness	24
1731	c	DFN150	Deafness, Autosomal Dominant 21	24
1732	c	DFN243	Deafness, Autosomal Recessive 88	24
1733	c	DFN158	Deafness, Autosomal Dominant 49	23
1734	c	DFN273	Deafness, Autosomal Recessive 101	23
1735	c	DFN156	Deafness, Autosomal Dominant 43	23
1736	c	OTF001	Otof-Related Deafness	23
1737	c	DFN184	Deafness, Autosomal Recessive 85	23
1738	c	DFN166	Deafness, Autosomal Recessive 17	23
1739	c	DFN169	Deafness, Autosomal Recessive 27	23
1740	c	DFN151	Deafness, Autosomal Dominant 24	23
1741	c	DFN153	Deafness, Autosomal Dominant 30	23
1742	c	ATS409	Autosomal Recessive Nonsyndromic Deafness 32	23
1743	c	DFN154	Deafness, Autosomal Dominant 31	22
1744	c	DFN272	Deafness, Autosomal Dominant 54	22
1745	c	DFN257	Deafness, Autosomal Dominant 33	21
1746	P	RRD005	Rare Deafness	20
1747	c	DFN242	Deafness, Autosomal Recessive 70	20
1748	c	DFN171	Deafness, Autosomal Recessive 33	20
1749	c	DFN029	Deafness, Autosomal Recessive 51	20
1750	c	DFN281	Deafness, Autosomal Recessive 103	19
1751	c	DFN165	Deafness, Autosomal Recessive 14	19
1752	c	DFN157	Deafness, Autosomal Dominant 47	19
1753	c	DFN161	Deafness, Autosomal Dominant 53	19
1754	c	DFN240	Deafness, Autosomal Recessive 96	19
1755	c	DFN333	Deafness, Autosomal Dominant 73	19
1756	c	DFN271	Deafness, Autosomal Dominant 58	18
1757	c	DFN167	Deafness, Autosomal Recessive 20	18
1758	c	DFN174	Deafness, Autosomal Recessive 44	18
1759	c	DFN180	Deafness, Autosomal Recessive 65	17
1760	c	DFN368	Deafness, Autosomal Dominant 74	17
1761	c	DFN385	Deafness, Autosomal Dominant 78	17
1762	c	DFN261	Deafness, Autosomal Recessive 46	16
1763	c	DFN381	Deafness, Autosomal Dominant 75	16
1764	c	DFN390	Deafness, Autosomal Dominant 80	15
1765	c	DFN172	Deafness, Autosomal Recessive 38	15
1766	c	DFN162	Deafness, Autosomal Dominant 59	15
1767	c	FML056	Familial Deafness	15
1768	c	DFN175	Deafness, Autosomal Recessive 45	14
1769	c	DFN387	Deafness, Autosomal Recessive 116	13
1770	c	DFN386	Deafness, Autosomal Dominant 79	13
1771	c	DFN388	Deafness, Autosomal Recessive 117	12
1772	c	ATS484	Autosomal Dominant Nonsyndromic Deafness 78	6
1773	c	ATS485	Autosomal Dominant Nonsyndromic Deafness 79	6
1774	c	ATS486	Autosomal Recessive Nonsyndromic Deafness 116	6
1775	c	ATS487	Autosomal Dominant Nonsyndromic Deafness 74	6
1776	c	ATS488	Autosomal Dominant Nonsyndromic Deafness 75	6
1777	c	ATS489	Autosomal Dominant Nonsyndromic Deafness 76	6
1778	c	ATS490	Autosomal Dominant Nonsyndromic Deafness 77	6
1779	c	ATS396	Autosomal Recessive Nonsyndromic Deafness 106	5
1780	c	ATS397	Autosomal Recessive Nonsyndromic Deafness 107	5
1781	c	ATS398	Autosomal Recessive Nonsyndromic Deafness 108	5
1782	c	ATS399	Autosomal Dominant Nonsyndromic Deafness 71	5
1783	c	ATS400	Autosomal Dominant Nonsyndromic Deafness 72	5
1784	c	ATS401	Autosomal Dominant Nonsyndromic Deafness 73	5
1785	c	ATS402	Autosomal Dominant Nonsyndromic Deafness 34	5
1786		LBR031	Leber Optic Atrophy and Dystonia	39
1787		CHR639	Chromosome Xp11.22 Duplication Syndrome	17
1788		DFN245	Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct	52
1789	c	DFN250	Deafness, Autosomal Recessive 2	45
1790	c	DFN201	Deafness, Autosomal Recessive 3	37
1791	c	DFN124	Deafness, Autosomal Recessive 6	35
1792	P	ADT009	Auditory Neuropathy Spectrum Disorder	34
1793		IMM185	Immunodeficiency 26 with or Without Neurologic Abnormalities	31
1794		RFQ001	Rafiq Syndrome	27
1795		DSS008	Disease of Mental Health	74
1796		ATS252	Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	42
1797		VLT001	Vulto-Van Silfhout-De Vries Syndrome	41
1798		ATS251	Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	38
1799		GST004	Gastric Neuroendocrine Neoplasm	36
1800	P	DFN349	Deafness, Nonsyndromic Sensorineural, Mitochondrial	35
1801		EPD081	Epidermoid Brain Cyst	24
1802		XLN174	X-Linked Non-Syndromic Sensorineural Deafness Type Dfn	20
1803		NNF009	Non-Functioning Neuroendocrine Tumor of Pancreas	17
1804		HGH030	High-Grade Neuroendocrine Carcinoma of the Cervix Uteri	16
1805		FNC065	Functioning Neuroendocrine Tumor of Pancreas	15
1806	c	DFN348	Deafness, Sensorineural, Autosomal-Mitochondrial Type	14
1807		HGH029	High-Grade Neuroendocrine Carcinoma of the Corpus Uteri	7
1808		INT252	Intestinal Neuroendocrine Benign Tumor	6
1809	c	DFN127	Deafness, Autosomal Recessive 7	39
1810	P	URF003	Urofacial Syndrome 1	56
1811	c	DFN036	Deafness, X-Linked 2	44
1812		ADR003	Adrenal Neuroblastoma	27
1813	c	URF002	Urofacial Syndrome 2	21
1814		ADP007	Adie Pupil	40
1815		MLS013	Miles-Carpenter Syndrome	35
1816		ALP094	Alpha Thalassemia-Intellectual Disability Syndrome Type 1	31
1817		SYN090	Syndromic X-Linked Intellectual Disability Turner Type	30
1818		RTN232	Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome	25
1819		SYN062	Syncope, Familial Vasovagal	18
1820		MNT201	Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	17
1821		ARM005	Armfield Syndrome	16
1822		PSY004	Psychotic Disorder	66
1823	c	DFN097	Deafness, Autosomal Recessive 1a	49
1824	c	DFN141	Deafness, Autosomal Recessive 12	46
1825	c	DFN197	Deafness, Autosomal Recessive 37	42
1826	c	DFN103	Deafness, Autosomal Recessive 1b	40
1827	c	DFN244	Deafness, Autosomal Recessive 42	34
1828	c	DFN120	Deafness, Autosomal Recessive 39	31
1829	c	HYP442	Hyperphosphatasia with Mental Retardation Syndrome 2	28
1830	c	HYP697	Hyperphosphatasia with Mental Retardation Syndrome 6	26
1831		MNG003	Mungan Syndrome	26
1832		DFN356	Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement	23
1833		SBN004	Sabinas Brittle Hair Syndrome	18
1834		ANX010	Anxiety	70
1835	P	ATT013	Attention Deficit-Hyperactivity Disorder	65
1836	P	ART005	Arteriovenous Malformation	64
1837		DPR016	Depression	64
1838	P	VSC007	Vascular Disease	62
1839	P	LRG012	Large Congenital Melanocytic Nevus	48
1840		SHR058	Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly	32
1841		KSK002	Kosaki Overgrowth Syndrome	32
1842		PLM039	Pulmonary Neuroendocrine Tumor	31
1843		GZP006	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development	23
1844	P	HYP834	Hypomagnesemia, Seizures, and Mental Retardation 2	22
1845	c	HYP830	Hypomagnesemia, Seizures, and Mental Retardation 1	22
1846	c	RRV009	Rare Vascular Disease	13
1847	c	ATT020	Attention Deficit-Hyperactivity Disorder 2	13
1848	c	ATT019	Attention Deficit-Hyperactivity Disorder 1	11
1849	c	ATT022	Attention Deficit-Hyperactivity Disorder 4	10
1850	c	ATT021	Attention Deficit-Hyperactivity Disorder 3	10
1851	c	RRR004	Rare Arteriovenous Malformation	8
1852		PST028	Post-Traumatic Stress Disorder	58
1853	P	MTC069	Mitochondrial Disorders	57
1854	P	BPL003	Bipolar Disorder	56
1855	c	BPL002	Bipolar I Disorder	47
1856	c	PRR020	Perrault Syndrome 1	34
1857	c	DFN178	Deafness, Autosomal Recessive 59	32
1858	P	NRN038	Neuronal Intestinal Dysplasia, Type B	31
1859		EXT065	Extraosseous Ewing Sarcoma	30
1860		WTS001	Watson Syndrome	30
1861	c	PRR022	Perrault Syndrome 2	25
1862	c	ALP076	Alopecia-Mental Retardation Syndrome 1	23
1863	c	PRR026	Perrault Syndrome 5	22
1864		MNT254	Mental Retardation Syndrome, Mietens-Weber Type	22
1865		KCN019	Kcnk9 Imprinting Syndrome	22
1866	c	DFN177	Deafness, Autosomal Recessive 5	22
1867	c	PRR033	Perrault Syndrome 6	21
1868		EXT008	Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor	20
1869		NRN045	Neuroendocrine Neoplasm of Appendix	19
1870		OVR004	Ovary Neuroendocrine Neoplasm	18
1871		DFF020	Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia	17
1872		MNT311	Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration	16
1873		NRN033	Neuroendocrine Tumor of the Colon	16
1874		ECT088	Ectodermal Dysplasia and Neurosensory Deafness	15
1875	c	RRM002	Rrm2b-Related Mitochondrial Disease	15
1876	P	MNT312	Mental Health Wellness 1	15
1877	c	MTC199	Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis	12
1878		CRN293	Craniosynostosis-Mental Retardation-Clefting Syndrome	11
1879	c	ISC017	Isca2-Related Mitochondrial Disorder	9
1880		OCL031	Oculo-Cerebral Dysplasia	8
1881		SRT005	Serotonin-Producing Neuroendocrine Tumor of Pancreas	8
1882		PDT011	Pediatric Cns Choriocarcinoma	7
1883		MLG125	Malignant Mediastinal Neurogenic Neoplasm	7
1884		LBN005	Lubani-Al Saleh-Teebi Syndrome	6
1885	c	MTC198	Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes	6
1886		XLN075	X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness	4
1887		CHL153	Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified	4
1888	c	BPL001	Bipolar Ll Disorder	4
1889	P	MJR001	Major Depressive Disorder	68
1890		MRK001	Merkel Cell Carcinoma	64
1891	c	MLN065	Melanocytic Nevus Syndrome, Congenital	62
1892	P	XRD029	Xeroderma Pigmentosum, Complementation Group a	55
1893	c	XRD031	Xeroderma Pigmentosum, Complementation Group F	55
1894		CD4003	Cd40 Ligand Deficiency	53
1895		OSS014	Ossification of the Posterior Longitudinal Ligament of Spine	48
1896		GLT007	Glutathione Synthetase Deficiency	48
1897	c	DFN351	Deafness, Autosomal Dominant 6	42
1898	c	DFN354	Deafness, Autosomal Dominant 20	41
1899	c	DFN098	Deafness, Autosomal Dominant 3a	41
1900	c	DFN139	Deafness, Autosomal Recessive 29	41
1901	c	DFN107	Deafness, Autosomal Dominant 10	40
1902	c	DFN247	Deafness, Autosomal Recessive 18a	40
1903	c	DFN170	Deafness, Autosomal Recessive 31	39
1904	c	DFN093	Deafness, Autosomal Recessive 23	39
1905	c	DFN128	Deafness, Autosomal Dominant 36	39
1906	c	DFN112	Deafness, Autosomal Recessive 63	39
1907	c	DFN189	Deafness, Autosomal Dominant 25	39
1908	c	DFN130	Deafness, Autosomal Recessive 21	38
1909	c	DFN092	Deafness, Autosomal Recessive 49	38
1910	c	DFN102	Deafness, Autosomal Dominant 3b	37
1911	c	DFN190	Deafness, Autosomal Dominant 2a	37
1912	c	DFN143	Deafness, Autosomal Recessive 16	36
1913	c	DFN202	Deafness, Autosomal Dominant 48	36
1914	c	DFN262	Deafness, Autosomal Recessive 15	35
1915	c	DFN121	Deafness, Autosomal Recessive 28	34
1916	c	DFN132	Deafness, Autosomal Recessive 22	34
1917	c	DFN258	Deafness, Autosomal Recessive 48	33
1918		MTC208	Mitochondrial Complex Iv Deficiency, Nuclear Type 2	33
1919	c	DFN138	Deafness, Autosomal Recessive 53	33
1920	c	DFN188	Deafness, Autosomal Recessive 61	32
1921	c	DFN137	Deafness, Autosomal Dominant 13	32
1922	c	DFN159	Deafness, Autosomal Dominant 5	31
1923	c	DFN094	Deafness, Autosomal Dominant 28	31
1924	c	DFN267	Deafness, Autosomal Dominant 4a	29
1925		CLF050	Cleft Palate, Cardiac Defects, and Mental Retardation	27
1926		FGS004	Fg Syndrome 4	27
1927	c	DFN255	Deafness, Autosomal Dominant 64	27
1928		NRN006	Neuroendocrine Carcinoma of the Cervix	20
1929		MNT306	Mental Retardation, X-Linked, Syndromic, Houge Type	19
1930	c	MJR013	Major Depressive Disorder 1	14
1931	c	MJR014	Major Depressive Disorder 2	13
1932		DF1001	Deaf1-Associated Disorders	9
1933	c	HMP029	Hemophilia a	69
1934	c	HMP004	Hemophilia B	68
1935	P	HRS035	Hirschsprung Disease 1	66
1936	P	NTR004	Neutropenia	62
1937	c	SVR003	Severe Congenital Neutropenia	59
1938	c	XRD023	Xeroderma Pigmentosum, Complementation Group G	53
1939	P	HMP007	Hemophilia	52
1940	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	51
1941		SMT006	Somatoform Disorder	50
1942	P	ASP001	Asperger Syndrome	48
1943	c	FML297	Familial Thyroid Dyshormonogenesis	47
1944	c	ACQ014	Acquired Hemophilia	45
1945		LRG014	Large Cell Neuroendocrine Carcinoma	44
1946		DGL002	D-Glyceric Aciduria	40
1947		DSM002	Desmosterolosis	39
1948		BJR001	Bjornstad Syndrome	39
1949		NRD001	Neurodermatitis	39
1950	c	ATS483	Autosomal Dominant Severe Congenital Neutropenia	38
1951		LTH002	Lathosterolosis	38
1952	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	38
1953	c	ACQ042	Acquired Hemophilia a	37
1954	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	37
1955	c	HRS036	Hirschsprung Disease 2	36
1956	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	36
1957		MTC141	Mitochondrial Complex V Deficiency, Nuclear Type 5	36
1958		PSD088	Pseudobulbar Affect	33
1959	c	THY056	Thyroid Dyshormonogenesis 3	32
1960	c	THY071	Thyroid Dyshormonogenesis 1	31
1961	P	THY061	Thyroid Dyshormonogenesis 2a	30
1962	c	NTR054	Neutropenia, Severe Congenital, 8, Autosomal Dominant	28
1963		CFL005	Cafe-Au-Lait Spots, Multiple	28
1964		FKY002	Fukuyama Type Muscular Dystrophy	28
1965		TCH005	Tièche-Jadassohn Nevus	28
1966	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	27
1967	c	THY110	Thyroid Dyshormonogenesis 6	26
1968		MN1003	Mn1 C-Terminal Truncation Syndrome	26
1969	c	THY063	Thyroid Dyshormonogenesis 4	26
1970	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	26
1971	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	26
1972	c	HRS029	Hirschsprung Disease 4	24
1973	c	HRS034	Hirschsprung Disease 3	24
1974	P	INT385	Intellectual Developmental Disorder, Autosomal Dominant 61	24
1975		BRC097	Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation	24
1976	c	ASP032	Asperger Syndrome 1	23
1977		SPN428	Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant	22
1978	c	THY062	Thyroid Dyshormonogenesis 5	22
1979		INT377	Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly	22
1980	c	NTR045	Neutropenia, Chronic Familial	21
1981	c	SVR107	Severe Congenital Neutropenia 3	20
1982	c	SVR103	Severe Congenital Neutropenia 1	20
1983		SBC025	Subcortical Arteriosclerotic Encephalopathy	19
1984		ATM074	Autoimmune Autonomic Ganglionopathy	19
1985	c	ATS450	Autosomal Recessive Severe Congenital Neutropenia	18
1986	c	ALP075	Alopecia-Mental Retardation Syndrome 2	18
1987	c	INT335	Intellectual Developmental Disorder, Autosomal Recessive 67	18
1988	c	HRS027	Hirschsprung Disease 5	17
1989	c	ASP031	Asperger Syndrome 2	17
1990		CRV015	Cervical Large Cell Neuroendocrine Carcinoma	16
1991	c	SVR110	Severe Congenital Neutropenia 4	16
1992		CHR675	Chronic Relapsing Inflammatory Optic Neuropathy	15
1993	c	SVR106	Severe Congenital Neutropenia 5	14
1994	c	ELN001	Elane-Related Neutropenia	14
1995		NRD120	Neurodegeneration with Ataxia and Late-Onset Optic Atrophy	14
1996	c	ASP033	Asperger Syndrome 3	13
1997	c	HRS024	Hirschsprung Disease 9	13
1998	c	HRS028	Hirschsprung Disease 6	13
1999	c	HRS026	Hirschsprung Disease 7	13
2000	c	ASP034	Asperger Syndrome 4	12
2001	c	ACQ053	Acquired Neutropenia	12
2002	c	HRS025	Hirschsprung Disease 8	12
2003	c	SVR105	Severe Congenital Neutropenia 2	10
2004		IMM028	Immune-Mediated Encephalomyelitis	10
2005	c	SVR108	Severe Congenital Neutropenia 6	9
2006	c	SVR104	Severe Congenital Neutropenia 7	8
2007	P	OST001	Osteopetrosis	70
2008	P	PRS038	Personality Disorder	65
2009	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	61
2010	P	SNS001	Sensorineural Hearing Loss	60
2011		ARG007	Argininemia	58
2012		MNT002	Mental Depression	56
2013	c	OST163	Osteopetrosis, Autosomal Recessive 3	54
2014		HYP691	Hypomelanosis of Ito	53
2015	c	OST131	Osteopetrosis, Autosomal Dominant 2	52
2016	c	OST126	Osteopetrosis, Autosomal Recessive 1	51
2017		TRC010	Trichotillomania	51
2018	c	OST136	Osteopetrosis, Autosomal Recessive 7	50
2019	c	OST120	Osteopetrosis, Autosomal Recessive 5	50
2020	c	BRD015	Bardet-Biedl Syndrome 3	49
2021	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	45
2022	c	OST134	Osteopetrosis, Autosomal Recessive 6	45
2023	c	XRD021	Xeroderma Pigmentosum, Complementation Group E	45
2024	c	DFN251	Deafness, Autosomal Dominant 11	44
2025	c	OST129	Osteopetrosis, Autosomal Recessive 2	44
2026		TCL016	T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy	44
2027		SPS057	Spasticity	43
2028		LPM010	Lipomatosis, Multiple Symmetric	43
2029	P	LBY004	Labyrinthitis	42
2030		DCR008	Dicarboxylic Aminoaciduria	42
2031	c	OST106	Osteopetrosis, Autosomal Recessive 8	42
2032		EMP001	Empty Sella Syndrome	41
2033		ADS004	Aids Dementia Complex	39
2034		PST053	Postherpetic Neuralgia	39
2035		ADR022	Adrenomyeloneuropathy	38
2036	c	DFN108	Deafness, Autosomal Recessive 77	37
2037		MSC190	Muscular Disease	36
2038	P	HRD217	Hereditary Optic Neuropathy	36
2039		DNC004	Diencephalic Syndrome	36
2040	c	DFN123	Deafness, Autosomal Recessive 79	34
2041	c	VRL004	Viral Labyrinthitis	34
2042		GRN006	Granulomatous Angiitis	34
2043		NRT002	Neurotic Excoriation	31
2044	c	ATS336	Autosomal Recessive Nonsyndromic Deafness 3	31
2045	c	DFN249	Deafness, Autosomal Recessive 93	30
2046	c	DFN135	Deafness, Autosomal Recessive 91	30
2047		EXT052	Extraskeletal Ewing Sarcoma	30
2048	c	MLT010	Multiple Personality Disorder	29
2049	c	CRN240	Craniometaphyseal Dysplasia, Autosomal Recessive	29
2050	c	DFN253	Deafness, Autosomal Recessive 84a	28
2051		EXT051	Extracranial Arteriovenous Malformation	26
2052	P	MTC140	Mitochondrial Dna Maintenance Defects	25
2053		TNG012	Tango2-Related Metabolic Encephalopathy and Arrhythmias	25
2054		GST031	Gastric Gastrinoma	25
2055		FRN030	Frontotemporal Dementia with Parkinsonism-17	24
2056		GLL007	Gallbladder Small Cell Carcinoma	23
2057	c	OST171	Osteopetrosis, Autosomal Dominant 3	22
2058		DRG004	Drug-Induced Mental Disorder	22
2059		OHD002	Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant	22
2060		SPN447	Spinal Muscular Atrophy, Infantile, James Type	22
2061		HYD052	Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia	21
2062		LKN032	Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness	21
2063		CYS040	Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation	20
2064		INT343	Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects	20
2065	c	DFN357	Deafness, Autosomal Recessive 47	20
2066		VCL008	Vacuolar Neuromyopathy	20
2067		GST111	Gastroenteropancreatic Neuroendocrine Neoplasm	20
2068		ALC013	Alcohol-Induced Mental Disorder	19
2069		MSC029	Muscular Dystrophy, Congenital, Merosin-Positive	19
2070		PTR028	Pterygia, Mental Retardation, and Distinctive Craniofacial Features	19
2071		PCD002	Pcdh19-Related Female-Limited Epilepsy	18
2072	P	DFN023	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17	18
2073		ATM091	Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	18
2074	c	MPV002	Mpv17-Related Mitochondrial Dna Maintenance Defect	18
2075		LKN027	Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate	18
2076		WLM019	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome	17
2077		GST057	Gastro-Enteropancreatic Neuroendocrine Tumor	16
2078		SPT020	Spatial Visualization, Aptitude for	15
2079		ART113	Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability	15
2080	c	CLC009	Clcn7-Related Osteopetrosis	15
2081		ALP067	Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	15
2082		PLX003	Plexosarcoma	14
2083		SPS218	Spastic Diplegia and Mental Retardation	14
2084		DFN014	Deafness Nephritis Anorectal Malformation	14
2085		IMM234	Immunodeficiency 26	14
2086	c	DFN024	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22	14
2087		SPS193	Spastic Paraplegia, Epilepsy, and Mental Retardation	14
2088		CRN103	Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig	14
2089		FTL066	Fetal Akinesia Syndrome, X-Linked	14
2090		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	14
2091	c	DFN027	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3	14
2092		THY092	Thymic Neuroendocrine Carcinoma	14
2093		DBT089	Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification	13
2094		NRF015	Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome	13
2095		RNL121	Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies	12
2096		STR104	Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features	12
2097		SPN396	Spinal Muscular Atrophy with Mental Retardation	12
2098		OHD001	Ohdo Syndrome, Maat-Kievit-Brunner Type	12
2099		OST048	Osteopetrosis and Infantile Neuroaxonal Dystrophy	11
2100		MYL068	Myelinated Optic Nerve Fibers	11
2101		FCL076	Facial Abnormalities, Kyphoscoliosis, and Mental Retardation	11
2102		HRD035	Hair Defect with Photosensitivity and Mental Retardation	10
2103		NRP050	Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance	10
2104		ESP004	Esophagus Small Cell Carcinoma	10
2105		SPT025	Sptbn4 Disorder	9
2106		MNT299	Mental and Growth Retardation with Amblyopia	9
2107		MNT250	Mental Retardation with Spastic Paraplegia	9
2108		HYP783	Hypogonadism with Low-Grade Mental Deficiency and Microcephaly	9
2109		AMP002	Ampulla of Vater Small Cell Carcinoma	9
2110		HYP797	Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses	8
2111		PRL043	Poorly Differentiated Thymic Neuroendocrine Carcinoma	8
2112	c	DFN028	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53	8