Metabolic Diseases Category (1918 diseases)

Including: Metabolic, Nutritional, Anabolic, Catabolic, Obesity
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		BDY004	Body Mass Index Quantitative Trait Locus 11	68
2		ABD017	Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	48
3	c	INH020	Inherited Metabolic Disorder	48
4		CRB025	Carbohydrate Metabolic Disorder	50
5	P	ABD014	Abdominal Obesity-Metabolic Syndrome 1	59
6		TNG012	Tango2-Related Metabolic Encephalopathy and Arrhythmias	13
7		NTR005	Nutritional Deficiency Disease	43
8		LPD008	Lipid Metabolism Disorder	58
9		LPT006	Leptin Receptor Deficiency	38
10		MMS001	Momo Syndrome	30
11	P	DRG021	Drug Metabolism, Poor, Cyp2c19-Related	27
12	c	ABD013	Abdominal Obesity-Metabolic Syndrome 3	25
13		INT273	Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity	10
14		AMN002	Amino Acid Metabolic Disorder	47
15		MNT318	Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome	25
16		LPT014	Leptin Deficiency or Dysfunction	37
17		OBS081	Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair	34
18		HYD021	Hydrocephalus Obesity Hypogonadism	15
19		CHN016	Cohen Syndrome	47
20	P	THP004	Thiopurines, Poor Metabolism of, 1	34
21	P	SRF003	Surfactant Metabolism Dysfunction, Pulmonary, 2	31
22		CNG376	Congenital Leptin Deficiency	20
23		BDY020	Body Mass Index Quantitative Trait Locus 19	25
24		ANR042	Aniridia - Ptosis - Intellectual Disability - Familial Obesity	16
25		MRB003	Morbid Obesity	60
26		URC002	Urea Cycle Disorder	50
27		PHS001	Phosphorus Metabolism Disease	41
28		BDY019	Body Mass Index Quantitative Trait Locus 18	27
29		BDY005	Body Mass Index Quantitative Trait Locus 9	27
30		BDY015	Body Mass Index Quantitative Trait Locus 12	25
31		BDY017	Body Mass Index Quantitative Trait Locus 14	25
32		BDY010	Body Mass Index Quantitative Trait Locus 4	25
33		BDY006	Body Mass Index Quantitative Trait Locus 8	23
34		BDY012	Body Mass Index Quantitative Trait Locus 7	23
35		INB001	Inborn Amino Acid Metabolism Disorder	16
36		XLN122	X-Linked Intellectual Disability - Short Stature - Obesity	4
37	c	SRF005	Surfactant Metabolism Dysfunction, Pulmonary, 3	28
38	c	SRF008	Surfactant Metabolism Dysfunction, Pulmonary, 4	25
39	c	SRF004	Surfactant Metabolism Dysfunction, Pulmonary, 1	25
40	c	SRF007	Surfactant Metabolism Dysfunction, Pulmonary, 5	22
41	c	THM013	Thiamine Metabolism Dysfunction Syndrome 5	22
42	c	THM014	Thiamine Metabolism Dysfunction Syndrome 4	22
43	P	PRP029	Porphyria	62
44	c	ACT078	Acute Porphyria	47
45		SRF006	Surfactant Dysfunction	36
46		MNR003	Mineral Metabolism Disease	34
47		MTL002	Metal Metabolism Disorder	30
48		PRP098	Proprotein Convertase 1/3 Deficiency	29
49		PYR035	Pyrimidine Metabolic Disorder	23
50		MRB006	Morbid Obesity and Spermatogenic Failure	20
51		THY064	Thyroid Hormone Metabolism, Abnormal	19
52		IRN002	Iron Metabolism Disease	55
53		GLC008	Glucose Metabolism Disease	52
54		CHP002	Chops Syndrome	31
55		RPD006	Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	26
56		MTB004	Metabolic Acidosis	48
57		OBS037	Obesity-Hypoventilation Syndrome	46
58	P	THM010	Thiamine Metabolism Dysfunction Syndrome 2	45
59		ORG002	Organic Acidemia	38
60		RHH001	Rohhad	27
61		HMC042	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	22
62		MTC005	Mitochondrial Metabolism Disease	44
63		MTH021	Methylmalonic Acidemia with Homocystinuria	34
64		MTB007	Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration	29
65		STR018	Steroid Inherited Metabolic Disorder	27
66		PRN024	Purine-Pyrimidine Metabolic Disorder	25
67		HST007	Histidine Metabolism Disease	23
68		RTN173	Retinal Dystrophy and Obesity	20
69		CNZ007	Coenzyme Q10 Deficiency, Primary, 2	20
70	P	MCR323	Microcephaly, Short Stature, and Impaired Glucose Metabolism 1	19
71		WLM019	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome	14
72		KWS001	Kwashiorkor	42
73		CLP006	Clopidogrel Resistance	42
74		MRS001	Marasmus	39
75		BDY011	Body Mass Index Quantitative Trait Locus 10	24
76		DSR002	Disorders of Intracellular Cobalamin Metabolism	19
77		MNT259	Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies	18
78		CLB031	Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	16
79		PRL046	Prolactin Deficiency with Obesity and Enlarged Testes	10
80		OVR113	Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis	5
81		CRD029	Cardiomyopathy Hypogonadism Metabolic Anomalies	3
82		3HY005	3-Hydroxyacyl-Coa Dehydrogenase Deficiency	59
83		LYS002	Lysosomal Storage Disease	56
84		BLR008	Bilirubin Metabolic Disorder	43
85		SPS204	Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity	25
86		OBS015	Obesity, Hyperphagia, and Developmental Delay	24
87		GMM004	Gamma-Amino Butyric Acid Metabolism Disorder	18
88	P	ACQ009	Acquired Metabolic Disease	32
89		PLS010	Plasma Protein Metabolism Disease	26
90	c	MCR316	Microcephaly, Short Stature, and Impaired Glucose Metabolism 2	21
91		VTM003	Vitamin Metabolic Disorder	20
92		BRN135	Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency	19
93		DVL020	Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features	14
94	c	THP005	Thiopurines, Poor Metabolism of, 2	12
95	P	MGL001	Megaloblastic Anemia	51
96		ACT149	Acetaminophen Metabolism	38
97	c	DRG020	Drug Metabolism, Poor, Cyp2d6-Related	23
98		ANT078	Antipyrine Metabolism	22
99		SHR102	Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures	22
100		ERY030	Erythrocyte Lactate Transporter Defect	18
101		INT226	Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	18
102		ZNC006	Zinc, Elevated Plasma	17
103		XLN211	X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	16
104		INT298	Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	16
105		MDF004	Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia	14
106		NTR002	Nutritional Optic Neuropathy	14
107		OBS060	Obesity Due to Sim1 Deficiency	12
108		SHR107	Short Stature-Obesity Syndrome	12
109		SVR045	Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency	12
110		XLN208	X-Linked Intellectual Disability-Precocious Puberty-Obesity Syndrome	9
111		OBS068	Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	8
112		ANM041	Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism	8
113		CHR069	Chronic Metabolic Polyneuropathy	4
114		HYL006	Hyaluronan Metabolism, Defect in	3
115	P	DBT026	Diabetes Mellitus, Noninsulin-Dependent	91
116	P	AMY004	Amyloidosis	68
117	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	67
118	c	HRD010	Hereditary Spastic Paraplegia	67
119	c	GLY008	Glycogen Storage Disease Ii	64
120	P	DBT009	Diabetes Mellitus	64
121		HYP066	Hyperglycemia	63
122	P	ENC018	Encephalopathy	62
123	P	CTS001	Cutis Laxa	62
124	P	HML002	Hemolytic Anemia	62
125		HYP056	Hypoglycemia	62
126	P	GLY013	Glycogen Storage Disease	61
127		GST033	Gestational Diabetes	60
128	c	SPN327	Spinocerebellar Ataxia, Autosomal Recessive 1	60
129	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	59
130	c	ANM038	Anemia, Autoimmune Hemolytic	59
131	P	OCL002	Oculocutaneous Albinism	58
132	c	SPN294	Spinocerebellar Ataxia 1	58
133	c	LPM012	Lipomatosis, Multiple	58
134	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	57
135	c	GLY060	Glycogen Storage Disease Ia	57
136	c	ALM001	Al Amyloidosis	57
137		GLC003	Glucose Intolerance	56
138		HYP060	Hyperinsulinism	56
139	P	SPN301	Spinocerebellar Ataxia 2	56
140		IRN001	Iron Deficiency Anemia	55
141	c	GLY003	Glycogen Storage Disease Iii	55
142	P	HYP050	Hyperinsulinemic Hypoglycemia	54
143	P	MTC133	Mitochondrial Myopathy	54
144		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	54
145	c	GLY004	Glycogen Storage Disease V	54
146	P	INF016	Infantile Epileptic Encephalopathy	54
147	c	SPN291	Spinocerebellar Ataxia 7	53
148	c	AMY009	Amyloidosis Aa	53
149		MCR004	Macroglobulinemia	53
150	P	PRM002	Primary Hyperoxaluria	53
151		HYP005	Hypokalemia	53
152		XNT003	Xanthomatosis	53
153		OVR063	Overnutrition	53
154		DBT084	Diabetes Mellitus, Ketosis-Prone	52
155	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	52
156	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	52
157	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
158	c	GLY007	Glycogen Storage Disease Iv	51
159	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	51
160		LPD009	Lipid Storage Disease	51
161		CLC006	Calcinosis	51
162		PRT038	Protein-Energy Malnutrition	51
163	c	GLY005	Glycogen Storage Disease Vi	51
164	P	NGH001	Night Blindness	51
165	P	LCT001	Lactic Acidosis	50
166	P	LPM005	Lipomatosis	50
167	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	50
168	c	SPN309	Spinocerebellar Ataxia 6	49
169	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	48
170	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	48
171	c	SPN293	Spinocerebellar Ataxia 12	48
172	P	TYR004	Tyrosinemia	48
173	c	HRD039	Hereditary Amyloidosis	48
174		HYP025	Hyperphosphatemia	48
175	c	GLY011	Glycogen Storage Disease Vii	48
176	P	NNT009	Neonatal Diabetes Mellitus	48
177	P	LCT002	Lactose Intolerance	47
178	P	HYP058	Hypervitaminosis a	47
179	c	SPN314	Spinocerebellar Ataxia 10	47
180		VTM002	Vitamin B12 Deficiency	47
181	P	OCL001	Ocular Albinism	46
182		TRN022	Transcobalamin Ii Deficiency	46
183		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	46
184	c	SPN312	Spinocerebellar Ataxia 14	46
185	c	SPN296	Spinocerebellar Ataxia 17	46
186	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	46
187		HYP017	Hypophosphatemia	46
188	c	CNG027	Congenital Hemolytic Anemia	46
189		HYP347	Hypotonia-Cystinuria Syndrome	46
190		WRN003	Wernicke Encephalopathy	45
191	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	45
192		PRD004	Prediabetes Syndrome	45
193	c	SPN100	Spinocerebellar Ataxia 27	45
194	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	44
195		LPP002	Lipoprotein Glomerulopathy	44
196	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
197		PRX001	Peroxisomal Disease	44
198	c	SPN311	Spinocerebellar Ataxia 13	44
199	c	MCP047	Mucopolysaccharidosis, Type Iva	44
200		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	44
201	P	MNN018	Mannosidosis	43
202	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	43
203	P	MTC004	Mitochondrial Encephalomyopathy	43
204	c	SPN305	Spinocerebellar Ataxia 11	43
205	c	CHR095	Chronic Progressive External Ophthalmoplegia	43
206	c	XNT010	Xanthinuria, Type I	43
207		CLS049	Classic Phenylketonuria	42
208		PRP056	Porphyria, Acute Hepatic	42
209	c	GM1004	Gm1-Gangliosidosis, Type I	42
210		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	42
211	c	SPN265	Spinocerebellar Ataxia 36	42
212	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	42
213	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	42
214		ERL001	Early Myoclonic Encephalopathy	42
215	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
216	c	HYP057	Hypervitaminosis D	41
217	c	HYP794	Hyperoxaluria, Primary, Type I	41
218		RBF001	Riboflavin Deficiency	41
219	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	41
220		ART002	Arts Syndrome	41
221	c	SPN330	Spondylocostal Dysostosis 5	40
222	c	SPN290	Spinocerebellar Ataxia 15	40
223		VTM001	Vitamin K Deficiency Hemorrhagic Disease	40
224		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	40
225	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	40
226	c	SPN103	Spinocerebellar Ataxia 31	40
227	c	SPN106	Spinocerebellar Ataxia 5	40
228	c	GLY098	Glycogen Storage Disease, Type Ixd	40
229	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	40
230	c	HMC021	Hemochromatosis, Type 2a	40
231	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	39
232	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	39
233	P	XNT004	Xanthinuria	39
234		CRB148	Cerebral Creatine Deficiency Syndrome 3	39
235		MHR001	Mohr-Tranebjaerg Syndrome	39
236		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	39
237	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	39
238		END028	Endemic Goiter	39
239	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	39
240		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	38
241	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
242	c	ALB024	Albinism, Ocular, Type I	38
243	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	38
244	c	SPN304	Spinocerebellar Ataxia 8	38
245	c	MYC068	Myoclonic Epilepsy of Infancy	38
246	c	GM2005	Gm2-Gangliosidosis, Ab Variant	38
247	c	ATS393	Autosomal Recessive Cutis Laxa Type I	38
248		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	38
249	c	MYG007	Myoglobinuria, Recurrent	38
250	P	GNG010	Gangliosidosis Gm2	37
251	P	3MT007	3-Methylglutaconic Aciduria	37
252	c	HYP602	Hyperoxaluria, Primary, Type Ii	37
253	P	MYG005	Myoglobinuria	37
254	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	37
255	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	37
256		BTN004	Biotin Deficiency	37
257	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
258	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	37
259		CHL050	Cholesterol Ester Storage Disease	37
260		BTR002	Beta-Ureidopropionase Deficiency	37
261	c	SPN097	Spinocerebellar Ataxia 23	37
262	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	37
263	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	37
264	c	CTS045	Cutis Laxa, Autosomal Dominant 1	37
265	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	37
266	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	37
267	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	37
268	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	37
269		GLY032	Glycosylphosphatidylinositol Deficiency	36
270	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	36
271	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	36
272	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	36
273	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
274	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	36
275	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	36
276		HYP003	Hypermethioninemia	36
277	c	SPN299	Spinocerebellar Ataxia 20	36
278	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	36
279	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	36
280	c	MCP051	Mucopolysaccharidosis, Type Ix	36
281	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	36
282	c	SPN094	Spinocerebellar Ataxia 18	36
283	c	GLY016	Glycogen Storage Disease Ib	35
284	c	HRD015	Hereditary Night Blindness	35
285	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	35
286	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	35
287	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	35
288		LGH012	Leigh Syndrome with Leukodystrophy	35
289		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	35
290		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	35
291	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	35
292		NNK001	Nonaka Myopathy	35
293	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	35
294	c	GM1005	Gm1-Gangliosidosis, Type Ii	35
295	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
296	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	34
297	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	34
298	c	GLY023	Glycogen Storage Disease Type 0	34
299	P	HYP111	Hyperprolinemia	34
300	c	XNT011	Xanthinuria, Type Ii	34
301		CHR387	Chromosome Xp21 Deletion Syndrome	34
302	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
303	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	34
304	c	MCL016	Mucolipidosis Iii Gamma	34
305	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
306		MNC019	Monocarboxylate Transporter 1 Deficiency	34
307		INF159	Infantile Sialic Acid Storage Disease	34
308	c	CNG379	Congenital Disorder of Glycosylation, Type It	34
309	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	33
310		ARB001	Ariboflavinosis	33
311	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	33
312	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	33
313	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
314	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	33
315	P	SPS008	Spastic Ataxia	33
316	c	PRP091	Porphyria Cutanea Tarda, Type I	33
317		CTN011	Cutaneous Porphyria	33
318		CHL045	Choline Deficiency Disease	33
319	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	33
320		PLY010	Polyclonal Hypergammaglobulinemia	33
321		GBT001	Gaba-Transaminase Deficiency	33
322	c	CNG195	Congenital Disorder of Glycosylation, Type Id	33
323	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	33
324	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	33
325		KLL014	Kelley-Seegmiller Syndrome	33
326	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
327		GLY094	Glycine Encephalopathy with Normal Serum Glycine	33
328	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	32
329	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	32
330		INC022	Inclusion-Cell Disease	32
331	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	32
332		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	32
333	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
334	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	32
335	c	SPN266	Spinocerebellar Ataxia 35	32
336	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	32
337	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	32
338	c	SPN101	Spinocerebellar Ataxia 29	32
339		MTC060	Mitochondrial Dna Depletion Syndrome 9	32
340	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	32
341	c	SPN105	Spinocerebellar Ataxia 4	31
342	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	31
343	c	SPN095	Spinocerebellar Ataxia 19	31
344	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	31
345		PHS021	Phosphoglycerate Dehydrogenase Deficiency	31
346	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	31
347		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	31
348	c	GLY044	Glycogen Storage Disease Ixc	31
349		SWY001	Swayback	31
350	c	MCP046	Mucopolysaccharidosis, Type Iiid	31
351	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	31
352	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	31
353	c	SPN099	Spinocerebellar Ataxia 26	31
354	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
355	c	SPS031	Spastic Paraplegia 23	31
356	c	MCP048	Mucopolysaccharidosis, Type Ivb	30
357		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	30
358		ASP024	Asparagine Synthetase Deficiency	30
359		PHS022	Phosphoserine Phosphatase Deficiency	30
360	c	PYR007	Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia	30
361	c	HYP603	Hyperoxaluria, Primary, Type Iii	30
362	P	SPS012	Spastic Paraplegia 3a	30
363	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	30
364	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	30
365	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
366	c	SPN096	Spinocerebellar Ataxia 21	30
367	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	30
368	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	30
369	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	30
370	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	30
371	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	30
372	c	HRD142	Hereditary Xanthinuria	30
373		MLD011	Mild Hyperphenylalaninemia	30
374	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	30
375	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	30
376		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	30
377	c	BNG079	Benign Adult Familial Myoclonic Epilepsy	30
378	c	MYC083	Myoclonic Epilepsy, Familial Infantile	30
379	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
380	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
381		CMB020	Combined Saposin Deficiency	30
382		LPD042	Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency	30
383	c	SPN104	Spinocerebellar Ataxia 34	29
384	c	GLY057	Glycogen Storage Disease X	29
385	c	ALB019	Albinism, Oculocutaneous, Type Iv	29
386		FLC001	Folic Acid Deficiency Anemia	29
387	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	29
388	c	GM1006	Gm1-Gangliosidosis, Type Iii	29
389	c	ACQ027	Acquired Cutis Laxa	29
390	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
391	c	MTC116	Mitochondrial Myopathy, Infantile, Transient	29
392		PHS014	Phosphoglycerate Kinase 1 Deficiency	29
393	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	29
394		HYP657	Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	29
395		MTC029	Mitochondrial Complex V Deficiency, Nuclear Type 1	29
396	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	29
397	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
398	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	28
399	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	28
400	c	MTC074	Metachromatic Leukodystrophy, Adult Form	28
401	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	28
402	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	28
403	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	28
404	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	28
405		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	28
406	P	EPL198	Epilepsy, Myoclonic Juvenile	28
407	c	ALB015	Albinism, Oculocutaneous, Type V	28
408	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
409	c	CNG198	Congenital Disorder of Glycosylation, Type Il	28
410		CMB040	Combined D-2- and L-2-Hydroxyglutaric Aciduria	28
411		MTC059	Mitochondrial Dna Depletion Syndrome 5	28
412	c	INF122	Infantile Krabbe Disease	28
413	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	28
414	c	GLY017	Glycogen Storage Disease Ic	28
415	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	28
416	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	28
417		ACD011	Acid Phosphatase Deficiency	28
418		MNC004	Monoclonal Paraproteinemia	28
419	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	28
420	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
421	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	27
422		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	27
423	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	27
424	c	SPN383	Spinocerebellar Ataxia 42	27
425	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
426	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	27
427	c	DBT054	Diabetes Mellitus, Insulin-Dependent, 24	27
428	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	27
429		GLT028	Glutaric Aciduria Iii	27
430		PYR021	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	27
431		CMB017	Combined Oxidative Phosphorylation Deficiency 6	27
432	c	SPN098	Spinocerebellar Ataxia 25	27
433		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	27
434	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	27
435		MYP097	Myopathy with Lactic Acidosis, Hereditary	27
436	c	HYP248	Hyperprolinemia, Type I	27
437		RBS005	Ribose 5-Phosphate Isomerase Deficiency	27
438	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	27
439	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
440	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	27
441	c	SPN247	Spinocerebellar Ataxia Type 19/22	27
442	c	SPN283	Spinocerebellar Ataxia 37	27
443	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	27
444	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	27
445	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
446		SRN001	Serine Deficiency	27
447	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	27
448	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	27
449	c	SPN284	Spinocerebellar Ataxia 38	27
450	c	GLY043	Glycogen Storage Disease Xii	27
451	c	HRD186	Hereditary Spastic Paraplegia 51	27
452		LKT001	Leukotriene C4 Synthase Deficiency	27
453	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	26
454	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	26
455		PRT094	Protoporphyria, Erythropoietic, X-Linked	26
456	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	26
457		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	26
458	c	TYP035	Type 1 Diabetes Mellitus 11	26
459	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	26
460	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	26
461	c	SPS021	Spastic Paraplegia 10	26
462	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	26
463	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	26
464	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	26
465	c	SPS092	Spastic Paraplegia 11	26
466		MTC088	Mitochondrial Dna Depletion Syndrome 13	26
467	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	26
468	c	CNG207	Congenital Disorder of Glycosylation, Type Io	26
469	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	26
470	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	26
471	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	26
472		CRT011	Carotenemia	26
473	c	GLY097	Glycogen Storage Disease Ixb	26
474		GLY078	Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency	26
475	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	26
476	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	26
477	c	SPN372	Spinocerebellar Ataxia 43	26
478	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
479	c	TYP037	Type 1 Diabetes Mellitus 13	26
480	c	GLY009	Glycogen Storage Disease Xv	26
481	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	26
482	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
483	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	26
484	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	26
485	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	26
486	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
487	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	25
488	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	25
489	c	ALB017	Albinism, Oculocutaneous, Type Vi	25
490	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	25
491	c	CHR522	Charcot-Marie-Tooth Disease, Dominant Intermediate E	25
492	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	25
493	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	25
494	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	25
495	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	25
496		MTC030	Mitochondrial Complex V Deficiency, Nuclear Type 3	25
497	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	25
498	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	25
499	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	25
500		DMT001	Dimethylglycine Dehydrogenase Deficiency	25
501	c	SPS039	Spastic Paraplegia 5a	25
502	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	25
503	c	TYP033	Type 1 Diabetes Mellitus 7	25
504	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
505	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	25
506	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	25
507	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	25
508		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	25
509	c	TYP032	Type 1 Diabetes Mellitus 6	24
510	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	24
511		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	24
512		MTC062	Mitochondrial Dna Depletion Syndrome 2	24
513	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	24
514	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	24
515	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	24
516	c	EPL154	Epilepsy, Progressive Myoclonic, 9	24
517	c	EPL210	Epilepsy, Progressive Myoclonic, 6	24
518	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	24
519	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	24
520	c	EPL155	Epilepsy, Progressive Myoclonic, 8	24
521		CMB046	Combined Oxidative Phosphorylation Deficiency 11	24
522	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	24
523		SZR018	Seizures, Scoliosis, and Macrocephaly Syndrome	24
524	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	24
525		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	24
526		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	24
527		LCT013	Lactase Deficiency, Congenital	24
528	c	SPN286	Spinocerebellar Ataxia 40	24
529		CMB045	Combined Oxidative Phosphorylation Deficiency 19	24
530	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	23
531	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	23
532		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	23
533	c	EPL134	Epilepsy, Progressive Myoclonic 7	23
534	c	TYP028	Type 1 Diabetes Mellitus 2	23
535	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	23
536	c	SPS036	Spastic Paraplegia 3	23
537	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	23
538	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	23
539	c	LCT011	Lactose Intolerance, Adult Type	23
540	c	SPS025	Spastic Paraplegia 15	23
541	c	TYP031	Type 1 Diabetes Mellitus 5	23
542		SDH011	Sedoheptulokinase Deficiency	23
543	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	23
544	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	23
545		MTC078	Mitochondrial Dna Depletion Syndrome 11	23
546		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	23
547		MTH013	Methylmalonate Semialdehyde Dehydrogenase Deficiency	23
548	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	23
549	c	EPL188	Epilepsy, Progressive Myoclonic, 10	23
550		PYR025	Pyruvate Dehydrogenase E2 Deficiency	23
551	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	23
552	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	23
553		3HY011	3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	23
554	c	ALB016	Albinism, Oculocutaneous, Type Vii	23
555	c	SPN323	Spinocerebellar Ataxia 41	23
556	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	23
557	c	HMC019	Hemochromatosis, Type 2b	23
558	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	23
559	c	FML324	Familial Porphyria Cutanea Tarda	22
560	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	22
561	c	DBT093	Diabetes Mellitus, Noninsulin-Dependent, 1	22
562	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	22
563		HYP719	Hyperglycinemia, Lactic Acidosis, and Seizures	22
564		PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	22
565	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	22
566	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	22
567	c	GLY059	Glycogen Storage Disease Xiii	22
568		CMB054	Combined Oxidative Phosphorylation Deficiency 23	22
569		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	22
570	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	22
571		CMB064	Combined Oxidative Phosphorylation Deficiency 24	22
572		ISL116	Isolated Complex Iii Deficiency	22
573	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	22
574		CMB018	Combined Oxidative Phosphorylation Deficiency 7	22
575		MTC091	Mitochondrial Complex Iii Deficiency, Nuclear Type 2	22
576	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	22
577	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	22
578	c	TYP038	Type 1 Diabetes Mellitus 15	22
579		CMB015	Combined Oxidative Phosphorylation Deficiency 4	22
580		CMB013	Combined Oxidative Phosphorylation Deficiency 2	22
581	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	22
582		MYP099	Myopathy, Isolated Mitochondrial, Autosomal Dominant	22
583	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	22
584		STT003	Steatitis	22
585		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	21
586	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	21
587	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	21
588		MTH040	Methylmalonyl-Coa Epimerase Deficiency	21
589		CMB065	Combined Oxidative Phosphorylation Deficiency 26	21
590	P	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	21
591	c	SPN259	Spinocerebellar Ataxia 32	21
592	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	21
593		PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	21
594		CMB044	Combined Oxidative Phosphorylation Deficiency 14	21
595	c	SPS091	Spastic Paraplegia 4	21
596	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	21
597		MTC137	Mitochondrial Complex V Deficiency, Nuclear Type 4	21
598	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	21
599		CMB016	Combined Oxidative Phosphorylation Deficiency 5	21
600		CMB043	Combined Oxidative Phosphorylation Deficiency 9	21
601	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	21
602		HMC036	Homocystinuria Without Methylmalonic Aciduria	21
603	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	21
604		MRC009	Mercaptolactate-Cysteine Disulfiduria	21
605		MTC087	Mitochondrial Complex Iii Deficiency, Nuclear Type 4	21
606	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	21
607	c	SPN420	Spinocerebellar Ataxia 46	21
608		MLT150	Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia	21
609	c	EPL129	Epileptic Encephalopathy, Early Infantile, 25	21
610		GCH010	Gaucher Disease, Atypical, Due to Saposin C Deficiency	21
611		SPS190	Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly	21
612		PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	21
613	c	TYP036	Type 1 Diabetes Mellitus 12	21
614	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	21
615		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	21
616	c	CTS031	Cutis Laxa, Autosomal Dominant 2	21
617		LPY002	Lipoyltransferase 1 Deficiency	21
618	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	21
619	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	21
620		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	20
621	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	20
622	c	GLY006	Glycogen Storage Disease Viii	20
623	c	SPN419	Spinocerebellar Ataxia 45	20
624		CMB049	Combined Oxidative Phosphorylation Deficiency 17	20
625	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	20
626	c	TYP027	Type 1 Diabetes Mellitus 10	20
627	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	20
628	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	20
629	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	20
630	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	20
631	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	20
632	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	20
633		CRB137	Cerebral Creatine Deficiency Syndrome	20
634	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	20
635	c	SPN418	Spinocerebellar Ataxia 44	20
636	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	20
637	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	20
638	c	SPS013	Spastic Paraplegia 8	20
639	c	SPN102	Spinocerebellar Ataxia 30	20
640	c	SPS020	Spastic Paraplegia 1	20
641	P	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	20
642	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	20
643		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	20
644	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	20
645	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	20
646	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	20
647		CMB048	Combined Oxidative Phosphorylation Deficiency 15	19
648		MTC095	Mitochondrial Complex Iii Deficiency, Nuclear Type 7	19
649		MTR058	Maternally-Inherited Progressive External Ophthalmoplegia	19
650	c	PRM150	Primary Localized Amyloidosis	19
651		NLX003	Neu-Laxova Syndrome 2	19
652	c	TYP039	Type 1 Diabetes Mellitus 17	19
653		PLY114	Polyglucosan Body Myopathy 2	19
654		ISL082	Isolated Atp Synthase Deficiency	19
655		CMB051	Combined Oxidative Phosphorylation Deficiency 21	19
656	c	DBT034	Diabetes Mellitus, Insulin-Dependent, 20	19
657	c	HYP564	Hypocalcemia, Autosomal Dominant 2	19
658	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	19
659	c	HRD188	Hereditary Spastic Paraplegia 72	19
660		CMB076	Combined Oxidative Phosphorylation Deficiency 31	19
661		CMB041	Combined Oxidative Phosphorylation Deficiency 13	19
662		CMB071	Combined Oxidative Phosphorylation Deficiency 27	19
663		CMB077	Combined Oxidative Phosphorylation Deficiency 30	19
664		HYP690	Hyper-Beta-Alaninemia	19
665		MTC098	Mitochondrial Complex Iii Deficiency, Nuclear Type 9	19
666	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	19
667	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	19
668		CMB052	Combined Oxidative Phosphorylation Deficiency 20	19
669	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	19
670		MYP149	Myopathy, Mitochondrial, and Ataxia	19
671	c	INF126	Infantile Glycine Encephalopathy	19
672		CMB063	Combined Oxidative Phosphorylation Deficiency 25	19
673	c	SPN107	Spinocerebellar Ataxia 9	19
674	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	19
675	c	DBT094	Diabetes Mellitus, Insulin-Dependent, 10	19
676	c	SPS042	Spastic Paraplegia 9	19
677		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	19
678	c	SPS037	Spastic Paraplegia 31	19
679		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	18
680		NNT038	Neonatal Glycine Encephalopathy	18
681	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	18
682		MTC090	Mitochondrial Complex Iii Deficiency, Nuclear Type 6	18
683		GLY085	Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency	18
684	P	JVN024	Juvenile Hereditary Hemochromatosis	18
685		MTC079	Mitochondrial Pyruvate Carrier Deficiency	18
686	c	SPS034	Spastic Paraplegia 26	18
687	c	SPS027	Spastic Paraplegia 17	18
688	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	18
689	c	TYP040	Type 1 Diabetes Mellitus 18	18
690	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	18
691	c	SPS028	Spastic Paraplegia 18	17
692	c	SPS041	Spastic Paraplegia 6	17
693	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	17
694		PRM123	Paramyloidosis	17
695		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	17
696	c	GLY093	Glycogen Storage Disease Ixa	17
697		2MN001	2-Aminoadipic 2-Oxoadipic Aciduria	17
698		NMN008	Niemann-Pick Disease Type C, Severe Perinatal Form	17
699	c	MYC086	Myoclonic Epilepsy, Juvenile 4	17
700	c	SPS023	Spastic Paraplegia 13	17
701	c	SPN421	Spinocerebellar Ataxia 47	17
702	c	EPL186	Epilepsy, Juvenile Myoclonic 9	17
703		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	17
704	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	17
705	c	SPN336	Spinocerebellar Ataxia Type 16	17
706	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	16
707	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	16
708	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	16
709	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	16
710		GLT036	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to	16
711	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	16
712	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	16
713	c	SPS080	Spastic Paraplegia 51	16
714		MTC089	Mitochondrial Complex Iii Deficiency, Nuclear Type 3	16
715	c	TYP029	Type 1 Diabetes Mellitus 3	16
716		PYR009	Pyridoxine Deficiency Anemia	16
717	c	DBT082	Diabetes Mellitus, Insulin-Dependent, 12	16
718	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	16
719	c	DBT032	Diabetes Mellitus, Insulin-Dependent, 22	15
720		HYD055	Hydroxylysinuria	15
721	c	DBT050	Diabetes Mellitus, Insulin-Dependent, 15	15
722	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	15
723	c	SPS032	Spastic Paraplegia 24	15
724	c	SPS033	Spastic Paraplegia 25	15
725	c	SPS035	Spastic Paraplegia 29	15
726	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	15
727		GNT042	Genetic Recurrent Myoglobinuria	15
728	c	AHM002	Ah Amyloidosis	15
729	c	DBT077	Diabetes Mellitus, Insulin-Dependent, 19	15
730	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	15
731	c	DBT057	Diabetes Mellitus, Insulin-Dependent, 6	15
732	c	SPS022	Spastic Paraplegia 12	15
733	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	15
734	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	15
735	c	DBT038	Diabetes Mellitus, Insulin-Dependent, 5	14
736	c	SPS026	Spastic Paraplegia 16	14
737	c	SPS161	Spastic Paraplegia 32	14
738	c	TYP030	Type 1 Diabetes Mellitus 4	14
739		ZLL010	Zellweger-Like Syndrome Without Peroxisomal Anomalies	14
740	c	SPN121	Spondylocostal Dysostosis 1	14
741	c	MYG006	Myoglobinuria, Autosomal Dominant	14
742	c	DBT053	Diabetes Mellitus, Insulin-Dependent, 23	14
743	c	SPS038	Spastic Paraplegia 39	14
744	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	14
745	c	PRG133	Progressive Myoclonic Epilepsy Type 5	14
746		MTC115	Mitochondrial Myopathy, Lethal, Infantile	14
747	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	14
748	c	EFM001	Efemp2-Related Cutis Laxa	14
749	c	SPS029	Spastic Paraplegia 19	14
750	c	TYS005	Tay-Sachs Disease, B1 Variant	14
751	c	MLT167	Multiple Mitochondrial Dysfunctions Syndrome 6	14
752		GNR029	Generalized Galactose Epimerase Deficiency	14
753	c	MYC085	Myoclonic Epilepsy, Juvenile 3	14
754	c	LTB003	Ltbp4-Related Cutis Laxa	14
755	c	EPL217	Epilepsy, Juvenile Myoclonic 10	14
756		MTH068	Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect	14
757	c	DBT049	Diabetes Mellitus, Insulin-Dependent, 13	13
758	c	DBT079	Diabetes Mellitus, Insulin-Dependent, 21	13
759		MTH003	Methylmalonic Aciduria and Homocystinuria Type Cble	13
760		MTH002	Methylmalonic Aciduria and Homocystinuria Type Cblg	13
761	c	DBT086	Diabetes Mellitus, Noninsulin-Dependent, 5	13
762	c	DBT055	Diabetes Mellitus, Insulin-Dependent, 3	13
763	c	DBT056	Diabetes Mellitus, Insulin-Dependent, 4	13
764	c	DBT048	Diabetes Mellitus, Insulin-Dependent, 11	13
765	c	DBT051	Diabetes Mellitus, Insulin-Dependent, 17	13
766	c	DBT052	Diabetes Mellitus, Insulin-Dependent, 18	13
767	c	TYP034	Type 1 Diabetes Mellitus 8	13
768	c	DBT033	Diabetes Mellitus, Noninsulin-Dependent, 2	13
769	c	DBT058	Diabetes Mellitus, Insulin-Dependent, 7	13
770	c	DBT059	Diabetes Mellitus, Insulin-Dependent, 8	13
771		HYP822	Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency	13
772		RNN006	Reunion Island Larsen Syndrome	12
773		HYP485	Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency	12
774	c	MLT069	Multiple Mitochondrial Dysfunctions Syndrome 2	12
775	c	SPS024	Spastic Paraplegia 14	12
776		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	12
777	c	GLY001	Glycogen Storage Disease Ix	12
778	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	12
779	c	TFR001	Tfr2-Related Hereditary Hemochromatosis	12
780	c	ACQ002	Acquired Night Blindness	11
781	c	SPS040	Spastic Paraplegia 5b	11
782	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	11
783	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	11
784	c	ATS186	Autosomal Recessive Spastic Paraplegia Type 68	11
785	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	11
786	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	11
787	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	11
788	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	11
789	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	11
790	c	DBT097	Diabetes Mellitus, Noninsulin-Dependent, 4	11
791		FLN005	Folinic Acid-Responsive Seizures	10
792		ERY041	Erythrocyte Galactose Epimerase Deficiency	10
793	c	DBT095	Diabetes Mellitus, Noninsulin-Dependent, 3	10
794	c	SPN122	Spondylocostal Dysostosis 2	10
795		GLY074	Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset	10
796		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
797		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
798	c	SPN123	Spondylocostal Dysostosis 3	10
799	c	SPN124	Spondylocostal Dysostosis 4	10
800		DBT003	Diabetic Peripheral Angiopathy	9
801		GLY052	Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset	9
802		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	9
803		CHR474	Chronic Diarrhea Due to Glucoamylase Deficiency	9
804	c	SPS214	Spastic Ataxia 4	9
805	c	SPS171	Spastic Ataxia 5	9
806	c	LTN017	Late-Infantile/juvenile Krabbe Disease	9
807	c	ADL071	Adult Krabbe Disease	9
808	c	LCT020	Lactic Acidosis, Chronic Adult Form	9
809	c	INF166	Infantile Epileptic Encephalopathy 55	9
810	c	INF169	Infantile Epileptic Encephalopathy 59	9
811	c	GRD008	Grid2-Related Spinocerebellar Ataxia	9
812	c	ACT189	Acute Neonatal Citrullinemia Type I	9
813		MNM005	Minimal Pigment Oculocutaneous Albinism Type 1	8
814		MTH069	Methylmalonic Acidemia Due to Transcobalamin Receptor Defect	8
815	c	TYS006	Tay-Sachs Disease, B Variant, Adult Form	8
816	c	SPS162	Spastic Ataxia 1	8
817	c	SPS163	Spastic Ataxia 3	8
818	c	FBL003	Fbln5-Related Cutis Laxa	8
819	c	EPL009	Epilepsy Progressive Myoclonic Type 3	8
820	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	8
821	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	8
822	P	TTL001	Total Internal Ophthalmoplegia	8
823	c	INF165	Infantile Epileptic Encephalopathy 56	8
824	c	INF167	Infantile Epileptic Encephalopathy 57	8
825	c	INF168	Infantile Epileptic Encephalopathy 58	8
826	c	ADL083	Adult-Onset Citrullinemia Type I	8
827	c	DBT096	Diabetes Mellitus, Congenital Autoimmune	8
828		DRR012	Diarrhea, Chronic, with Villous Atrophy	8
829	P	JVN036	Juvenile Sialidosis Type 2	7
830	c	CNG348	Congenital Sialidosis Type 2	7
831	c	SPS170	Spastic Ataxia 2	7
832	c	SPS229	Spastic Ataxia 8	7
833		TRN049	Transient Tyrosinemia of the Newborn	7
834		CNG299	Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance	7
835		CNG301	Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance	7
836		CNG300	Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance	7
837		CNG304	Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance	7
838		TTR020	Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria	7
839		CNG305	Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance	7
840	c	GM2001	Gm2 Gangliosidosis, 0 Variant	7
841	c	ALP055	Alpha-Mannosidosis, Infantile Form	7
842	c	ALP056	Alpha-Mannosidosis, Adult Form	7
843	c	SPS172	Spastic Ataxia 7	7
844		ATS112	Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity	6
845		PRM138	Pure Mitochondrial Myopathy	6
846	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	6
847		TRN050	Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency	6
848		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	6
849	c	MTH080	Methylmalonic Acidemia Cb1b Type	6
850	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	6
851	P	ATS321	Autosomal Dominant Complex Spastic Paraplegia Type 9b	6
852		XYL001	Xylt1-Cdg	5
853	c	FST011	Fastkd2-Related Infantile Mitochondrial Encephalomyopathy	5
854	P	MTH065	Methylmalonic Acidemia Cb1a Type	5
855		ATS233	Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	5
856	c	ATS405	Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction	5
857		ISL027	Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type	5
858	c	LCT010	Lactic Acidosis Congenital Infantile	5
859		HRD143	Hereditary Hypercarotenemia and Vitamin a Deficiency	4
860		CRB012	Cerebral Folate Receptor Alpha Deficiency	4
861		MTR052	Maternally-Inherited Mitochondrial Dystonia	3
862	c	MYG002	Myoglobinuria Dominant Form	3
863		MTC086	Mitochondrial Dna Depletion Syndrome 12	3
864		LYS024	Lysosomal and Lipase Deficiency	3
865		ADN058	Adenylosuccinase Lyase Deficiency	2
866		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	51
867	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	59
868	c	3MT015	3-Methylglutaconic Aciduria, Type I	44
869	c	3MT014	3-Methylglutaconic Aciduria, Type V	41
870		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	29
871		AYZ001	Ayazi Syndrome	9
872		RCK004	Rickets	62
873	P	GLT035	Glutaric Acidemia I	45
874		CMR002	Coumarin Resistance	44
875		3HY007	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	41
876		GRC001	Gracile Syndrome	31
877		MCR257	Microcephaly, Amish Type	27
878		OBS050	Obesity Due to Congenital Leptin Deficiency	23
879	c	GLT029	Glutaric Acidemia Type Iii	16
880		IRN004	Iron-Refractory Iron Deficiency Anemia	42
881		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	54
882		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	51
883		ADN024	Adenine Phosphoribosyltransferase Deficiency	49
884		TTR005	Tetrahydrobiopterin Deficiency	44
885		3HY001	3-Hydroxyisobutyric Aciduria	25
886	P	CRB059	Cerebellar Degeneration	39
887		HYP364	Hyperostosis Frontalis Interna	28
888	c	SBC039	Subacute Cerebellar Degeneration	22
889	c	PRM015	Primary Cerebellar Degeneration	19
890		DPL003	Diploid-Triploid Mosaicism	15
891		THP001	Thiopurine S Methyltranferase Deficiency	15
892		EFV001	Efavirenz, Poor Metabolism of	13
893		MN1002	Man1b1-Cdg	11
894		INT088	Intrinsic Factor Deficiency	35
895		IRN008	Iron Overload in Africa	32
896		CNG016	Congenital Intrinsic Factor Deficiency	28
897		AMN012	Aminoacidopathies	24
898		CHR506	Choroideremia, Deafness, and Mental Retardation	24
899		CLR029	Clark-Baraitser Syndrome	23
900		BTN005	Biotin-Thiamine-Responsive Basal Ganglia Disease	20
901	c	BMN004	Biemond Syndrome Ii	19
902	P	BMN001	Biemond Syndrome	14
903		CMR005	Camera-Marugo-Cohen Syndrome	12
904		TGL001	Tiglic Acidemia	11
905		WNS001	Weinstein Kliman Scully Syndrome	5
906	c	BMN003	Biemond Syndrome Type 1	3
907	P	PRK057	Parkinson Disease, Late-Onset	76
908	P	MTC003	Metachromatic Leukodystrophy	71
909	P	TYS001	Tay-Sachs Disease	71
910		FBR012	Fabry Disease	71
911	P	DMN001	Diamond-Blackfan Anemia	69
912	P	KRB001	Krabbe Disease	69
913		SCH036	Scheie Syndrome	68
914	P	MCL013	Mucolipidosis Iv	67
915		CHD001	Chediak-Higashi Syndrome	65
916	P	DBT085	Diabetes Mellitus, Insulin-Dependent	65
917		GLC006	Galactosemia	65
918	P	CHR071	Charcot-Marie-Tooth Disease	65
919		SND001	Sandhoff Disease	64
920		CRB011	Cerebrotendinous Xanthomatosis	63
921	c	MCP050	Mucopolysaccharidosis, Type Ii	63
922	c	MCL062	Mucolipidosis Ii Alpha/beta	63
923	c	MCP049	Mucopolysaccharidosis, Type Vii	63
924		CYS013	Cystinuria	63
925	P	CNG411	Congenital Disorder of Glycosylation, Type in	62
926		PRP001	Propionic Acidemia	62
927	c	MCP024	Mucopolysaccharidosis Type Vi	62
928	P	GCH001	Gaucher's Disease	62
929		PTR032	Peters-Plus Syndrome	62
930	P	NRN021	Neuronal Ceroid Lipofuscinosis	61
931		MTH078	Methylmalonic Aciduria, Cblb Type	61
932		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	61
933		PRP083	Porphyria, Acute Intermittent	61
934		FTT001	Fatty Liver Disease	60
935		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	60
936	P	INT001	Intrahepatic Cholestasis	60
937		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	60
938	P	FCS002	Fucosidosis	60
939	c	MCP001	Mucopolysaccharidosis Iii	60
940	P	CTR002	Cataract	60
941	c	MCP004	Mucopolysaccharidosis Iv	59
942		ORN008	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	58
943	P	HYP724	Hyperlipoproteinemia, Type Iii	58
944	c	MSC113	Muscular Dystrophy, Limb-Girdle, Type 2b	58
945		PRT118	Protoporphyria, Erythropoietic	58
946		HLC001	Holocarboxylase Synthetase Deficiency	58
947	c	MSC121	Muscular Dystrophy, Limb-Girdle, Type 2a	58
948	c	GNG001	Gangliosidosis Gm1	57
949		DBF001	D-Bifunctional Protein Deficiency	57
950		ARG002	Argininosuccinic Aciduria	57
951		MTC007	Mitochondrial Complex I Deficiency	57
952		PYR041	Pyruvate Kinase Deficiency of Red Cells	57
953	c	PRX045	Peroxisome Biogenesis Disorder 1b	56
954	c	FRC011	Fructose Intolerance, Hereditary	56
955		MLT118	Multiple Acyl-Coa Dehydrogenase Deficiency	56
956	c	MNN047	Mannosidosis, Alpha B, Lysosomal	56
957	c	PSD108	Pseudohypoparathyroidism, Type Ia	56
958	P	ZLL001	Zellweger Syndrome	56
959	P	HYP614	Hyperlipidemia, Familial Combined	56
960		BTN003	Biotinidase Deficiency	56
961		HRL003	Hurler Syndrome	56
962		ALK013	Alkaptonuria	56
963		ASP002	Aspartylglucosaminuria	56
964	P	HYP014	Hyperuricemia	55
965		DBN001	Dubin-Johnson Syndrome	55
966		PRP082	Porphyria, Congenital Erythropoietic	55
967		CTR172	Citrullinemia, Classic	55
968		PRP032	Porphyria Variegata	55
969		LPD016	Lipoid Proteinosis of Urbach and Wiethe	55
970	c	ANM036	Anemia, Sideroblastic, 1	55
971		MVL001	Mevalonic Aciduria	54
972	P	HYP818	Hypobetalipoproteinemia, Familial, 1	54
973		APP015	Apparent Mineralocorticoid Excess	54
974	P	LMB006	Limb-Girdle Muscular Dystrophy	54
975		HMZ003	Homozygous Familial Hypercholesterolemia	54
976	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	54
977		MLT135	Multiple Sulfatase Deficiency	53
978		CRB186	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to	53
979		GLC012	Galactosialidosis	53
980	P	GLY010	Glycine Encephalopathy	53
981	c	PSD066	Pseudohypoparathyroidism, Type Ib	53
982		LYS003	Lysinuric Protein Intolerance	52
983		CLC001	Calciphylaxis	52
984	c	CRG004	Crigler-Najjar Syndrome, Type Ii	52
985		WRN002	Wernicke-Korsakoff Syndrome	52
986	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	52
987		VTM028	Vitamin E, Familial Isolated Deficiency of	52
988	c	MSC120	Muscular Dystrophy, Limb-Girdle, Type 2c	51
989		TRS021	Triosephosphate Isomerase Deficiency	51
990		ARG007	Argininemia	51
991		HMS001	Hemosiderosis	51
992	P	NNL004	Nonalcoholic Fatty Liver Disease	51
993	c	HYP739	Hyperlipoproteinemia, Type Iv	50
994		HYP732	Hyperalphalipoproteinemia 1	50
995		PYC001	Pycnodysostosis	50
996	P	PSD015	Pseudohypoparathyroidism	50
997	P	HMC002	Homocystinuria	50
998		PRN011	Pernicious Anemia	50
999	c	MCL046	Mucolipidosis Iii Alpha/beta	49
1000		ORT008	Orotic Aciduria	49
1001	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	49
1002		HYP088	Hyper-Igd Syndrome	49
1003		NLX004	Neu-Laxova Syndrome 1	49
1004		ISV001	Isovaleric Acidemia	49
1005	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
1006	c	MSC042	Muscular Dystrophy-Dystroglycanopathy , Type B, 6	49
1007		OCC006	Occipital Horn Syndrome	49
1008	c	MSC035	Muscular Dystrophy-Dystroglycanopathy , Type B, 5	49
1009	P	KRN004	Kernicterus	48
1010		HYP081	Hypolipoproteinemia	48
1011		GLC009	Glucosephosphate Dehydrogenase Deficiency	48
1012		HMC014	Homocysteinemia	48
1013	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	48
1014	c	DWL002	Dowling-Degos Disease 1	48
1015		GLY014	Glycerol Kinase Deficiency	48
1016		HPT025	Hepatic Lipase Deficiency	47
1017		HRT031	Hartnup Disorder	47
1018	P	MNN019	Mannosidosis, Beta a, Lysosomal	47
1019	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	47
1020		MTC020	Mitochondrial Complex Ii Deficiency	47
1021		SPH010	Sphingolipidosis	47
1022	P	D2H002	D-2-Hydroxyglutaric Aciduria 1	47
1023	P	FML035	Familial Hyperlipidemia	47
1024		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	47
1025		SGW002	Segawa Syndrome, Autosomal Recessive	47
1026	c	DMN023	Diamond-Blackfan Anemia 1	46
1027		BTY001	Butyrylcholinesterase Deficiency	46
1028	c	HRM005	Hermansky-Pudlak Syndrome 1	46
1029	c	TYR013	Tyrosinemia, Type Ii	46
1030	c	HRM006	Hermansky-Pudlak Syndrome 3	46
1031		FRB001	Farber Lipogranulomatosis	46
1032		GLT007	Glutathione Synthetase Deficiency	46
1033		NRM019	Neuraminidase Deficiency	46
1034	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	46
1035		ALB002	Albinism	46
1036	c	ALB021	Albinism, Oculocutaneous, Type Ii	45
1037		CRB150	Cerebral Creatine Deficiency Syndrome 2	45
1038		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	45
1039		ENC055	Encephalopathy, Ethylmalonic	45
1040		FSH001	Fish-Eye Disease	45
1041		GLC011	Galactose Epimerase Deficiency	45
1042		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	45
1043		MND021	Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome	44
1044		BRN045	Brunner Syndrome	44
1045		MLT018	Multiple Carboxylase Deficiency	44
1046	c	MSC123	Muscular Dystrophy, Limb-Girdle, Type 2d	44
1047	P	SLL003	Salla Disease	44
1048		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	44
1049		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	44
1050		SLR001	Sialuria	43
1051		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	43
1052	P	SDR003	Sideroblastic Anemia	43
1053	c	HYP734	Hypercholesterolemia, Autosomal Dominant, Type B	43
1054		FRC001	Fructose-1,6-Bisphosphatase Deficiency	43
1055	c	MSC116	Muscular Dystrophy, Limb-Girdle, Type 2f	43
1056	P	PLL002	Pellagra	43
1057	c	HMC009	Hemochromatosis Type 2	42
1058		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	42
1059	c	L2H001	L-2-Hydroxyglutaric Aciduria	42
1060	c	MSC119	Muscular Dystrophy, Limb-Girdle, Type 2h	42
1061	c	TYR011	Tyrosinemia, Type Iii	42
1062	P	TRM004	Trimethylaminuria	42
1063		HYP781	Hypoascorbemia	42
1064		PRL019	Prolidase Deficiency	42
1065	c	HMC010	Hemochromatosis, Type 3	42
1066		HMC041	Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity	41
1067		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	41
1068	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	41
1069	c	HRM008	Hermansky-Pudlak Syndrome 5	41
1070	P	PNT019	Pontocerebellar Hypoplasia	41
1071	P	CNG003	Congenital Dyserythropoietic Anemia	41
1072		GLC004	Galactokinase Deficiency	41
1073	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	41
1074		ALP077	Alpha-Methylacetoacetic Aciduria	41
1075		SBL008	Sea-Blue Histiocyte Disease	41
1076		BRB001	Beriberi	41
1077		GLC022	Glucose/galactose Malabsorption	41
1078	c	CTR130	Cataract 9, Multiple Types	41
1079	c	ALB009	Albinism, Oculocutaneous, Type Ia	41
1080	c	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	41
1081		HYP236	Hyperbilirubinemia, Rotor Type	40
1082	c	PRX059	Peroxisome Biogenesis Disorder 1a	40
1083	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	40
1084		IMN001	Iminoglycinuria	40
1085	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	40
1086	c	ERL056	Early-Onset Parkinson's Disease	40
1087	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	40
1088	c	PNT036	Pontocerebellar Hypoplasia, Type 6	40
1089	c	HMC035	Hemochromatosis, Type 4	40
1090		MTH074	Methionine Adenosyltransferase I/iii Deficiency	40
1091		HRL004	Hurler-Scheie Syndrome	40
1092	c	MSC112	Muscular Dystrophy, Limb-Girdle, Type 1b	40
1093	c	MSC115	Muscular Dystrophy, Limb-Girdle, Type 1a	40
1094	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	40
1095	P	DWL001	Dowling-Degos Disease	40
1096	c	SPN308	Spinocerebellar Ataxia 28	39
1097	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	39
1098		DHY011	Dihydropyrimidinase Deficiency	39
1099	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	39
1100	c	MSC059	Muscular Dystrophy, Limb-Girdle, Type 2l	39
1101		SVR095	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency	39
1102	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	39
1103		HYP815	Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome	39
1104		TRN021	Transaldolase Deficiency	39
1105	c	FTT008	Fatty Liver Disease, Nonalcoholic 1	39
1106		MLY001	Molybdenum Cofactor Deficiency	39
1107		DPM007	Dopamine Beta-Hydroxylase Deficiency, Congenital	39
1108		ARM002	Aromatic L-Amino Acid Decarboxylase Deficiency	38
1109		SLF014	Sulfite Oxidase Deficiency, Isolated	38
1110	c	MSC117	Muscular Dystrophy, Limb-Girdle, Type 1e	38
1111	P	HYP605	Hyperphenylalaninemia, Bh4-Deficient, B	38
1112		GLY081	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency	38
1113	c	NMN014	Niemann-Pick Disease, Type C2	38
1114		MTC111	Mitochondrial Neurogastrointestinal Encephalomyopathy	38
1115	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	38
1116	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	38
1117	c	PRK090	Parkinson Disease 3, Autosomal Dominant	38
1118		PYR037	Pyruvate Carboxylase Deficiency	38
1119	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	38
1120	c	CTR115	Cataract 16, Multiple Types	38
1121	c	ATS331	Autosomal Recessive Limb-Girdle Muscular Dystrophy	37
1122	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	37
1123	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	37
1124	c	ATS359	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	37
1125	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	37
1126		ADN022	Adenylosuccinase Deficiency	37
1127		HMC038	Hemochromatosis, Neonatal	37
1128	c	CTR118	Cataract 14, Multiple Types	37
1129	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	37
1130	c	MSC108	Muscular Dystrophy-Dystroglycanopathy , Type C, 2	37
1131		EPL131	Epilepsy, Pyridoxine-Dependent	37
1132	c	MSC103	Muscular Dystrophy-Dystroglycanopathy , Type C, 4	37
1133		ALP011	Alpha-Ketoglutarate Dehydrogenase Deficiency	36
1134	c	PSD117	Pseudohypoparathyroidism, Type Ic	36
1135		PYR016	Pyridoxine Deficiency	36
1136	c	HYP768	Hyperlipoproteinemia, Type I	36
1137	c	CRD226	Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive	36
1138	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	36
1139	c	HYP331	Hyperphenylalaninemia, Bh4-Deficient, a	36
1140		GLY015	Glycine N-Methyltransferase Deficiency	36
1141	c	MSC063	Muscular Dystrophy, Limb-Girdle, Type 2j	36
1142		NCT003	N-Acetylglutamate Synthase Deficiency	36
1143	c	CTR129	Cataract 31, Multiple Types	36
1144	c	MSC122	Muscular Dystrophy, Limb-Girdle, Type 2g	36
1145	c	CTR170	Cataract 30, Multiple Types	36
1146		DSM002	Desmosterolosis	36
1147		PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	35
1148	c	PNT010	Pontocerebellar Hypoplasia Type 1	35
1149	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	35
1150		CNZ001	Coenzyme Q10 Deficiency Disease	35
1151		FLT009	Folate Malabsorption, Hereditary	35
1152	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	35
1153		KNZ001	Kanzaki Disease	35
1154	c	MSC161	Muscular Dystrophy, Limb-Girdle, Type 1c	35
1155		INF129	Infantile Cerebellar-Retinal Degeneration	35
1156	c	CTR098	Cataract 1, Multiple Types	35
1157	c	PRK025	Parkinson Disease 10	35
1158	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	35
1159		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	34
1160		FMR004	Fumarase Deficiency	34
1161		DYS161	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency	34
1162	c	ATS330	Autosomal Dominant Limb-Girdle Muscular Dystrophy	34
1163		GLY031	Glycoproteinosis	34
1164	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	34
1165		LTH002	Lathosterolosis	34
1166		ACT209	Acatalasemia	34
1167	P	SCH017	Schindler Disease	33
1168	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	33
1169		PPC001	Pepck 1 Deficiency	33
1170	c	ATS280	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	33
1171	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	33
1172	c	HRM009	Hermansky-Pudlak Syndrome 6	33
1173	c	CTR141	Cataract 21, Multiple Types	33
1174	c	PSD104	Pseudohypoparathyroidism, Type Ii	33
1175	c	MSC057	Muscular Dystrophy, Limb-Girdle, Type 1f	33
1176	c	HYP396	Hypercholesterolemia, Autosomal Recessive	33
1177		FRS004	Free Sialic Acid Storage Disorders	33
1178		SCR037	Sucrase-Isomaltase Deficiency, Congenital	33
1179	c	CRD239	Ceroid Lipofuscinosis, Neuronal, 13	33
1180		KSH001	Keshan Disease	33
1181	P	2HY001	2-Hydroxyglutaric Aciduria	32
1182	c	MSC093	Muscular Dystrophy-Dystroglycanopathy , Type C, 3	32
1183	c	HRM011	Hermansky-Pudlak Syndrome 8	32
1184	c	CTR122	Cataract 5, Multiple Types	32
1185	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	32
1186		HMC001	Homocarnosinosis	32
1187		MTC008	Mitochondrial Complex Iii Deficiency	32
1188	c	ZLL011	Zellweger Spectrum Disorder	32
1189	c	HRM012	Hermansky-Pudlak Syndrome 9	32
1190	c	PRX055	Peroxisome Biogenesis Disorder 11a	32
1191	c	PNT037	Pontocerebellar Hypoplasia, Type 3	32
1192		SCH030	Schneckenbecken Dysplasia	32
1193	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	32
1194		MLN011	Malonyl-Coa Decarboxylase Deficiency	32
1195	c	MSC111	Muscular Dystrophy-Dystroglycanopathy , Type C, 7	31
1196	c	ALB010	Albinism, Oculocutaneous, Type Ib	31
1197	c	MSC100	Muscular Dystrophy-Dystroglycanopathy , Type C, 9	31
1198		SRC015	Sarcosinemia	31
1199	c	CTR125	Cataract 7	31
1200	c	HMC034	Hemochromatosis, Type 5	31
1201		CMB012	Combined Oxidative Phosphorylation Deficiency 1	31
1202	c	MSC062	Muscular Dystrophy, Limb-Girdle, Type 2q	31
1203		2MT003	2-Methylbutyryl-Coa Dehydrogenase Deficiency	31
1204	c	CTR145	Cataract 44	31
1205	c	HYP804	Hyperlipidemia, Combined, 1	31
1206	c	ATS297	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	31
1207	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	31
1208	c	CTR103	Cataract 4, Multiple Types	31
1209	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	31
1210	c	CTR158	Cataract 37	31
1211	c	PNT033	Pontocerebellar Hypoplasia, Type 10	31
1212	c	PRK085	Parkinson Disease 1, Autosomal Dominant	31
1213	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	30
1214	c	PRK071	Parkinson Disease 14, Autosomal Recessive	30
1215	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	30
1216	c	MSC058	Muscular Dystrophy, Limb-Girdle, Type 1h	30
1217	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	30
1218		PHS023	Phosphoserine Aminotransferase Deficiency	30
1219	c	MSC136	Muscular Dystrophy, Limb-Girdle, Type 2w	30
1220	P	ALB023	Albinism, Ocular, with Sensorineural Deafness	30
1221	c	PNT043	Pontocerebellar Hypoplasia, Type 4	30
1222		CYS019	Cystathioninuria	30
1223	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	30
1224		24D001	2,4-Dienoyl-Coa Reductase Deficiency	30
1225	c	CTR095	Cataract 8, Multiple Types	29
1226	c	ATS298	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	29
1227	P	CTR077	Citrullinemia, Type Ii, Neonatal-Onset	29
1228	c	HRM020	Hermansky-Pudlak Syndrome 10	29
1229		PLY158	Polyglucosan Body Neuropathy, Adult Form	29
1230	c	ALB020	Albinism, Oculocutaneous, Type Iii	29
1231		MTH056	Methylmalonic Aciduria and Homocystinuria, Cblf Type	29
1232		MTC063	Mitochondrial Dna Depletion Syndrome 3	29
1233		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	29
1234	c	CTR096	Cataract 6, Multiple Types	29
1235	c	PNT032	Pontocerebellar Hypoplasia, Type 9	29
1236	c	MSC095	Muscular Dystrophy, Limb-Girdle, Type 2r	29
1237	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	29
1238	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
1239	P	XLN161	X-Linked Chondrodysplasia Punctata	29
1240	c	CTR102	Cataract 2, Multiple Types	28
1241	c	GCH013	Gaucher Disease, Type Iiic	28
1242	c	HYP805	Hypercholesterolemia, Autosomal Dominant, 3	28
1243	c	PNT046	Pontocerebellar Hypoplasia, Type 5	28
1244	c	CTR175	Cataract 24	28
1245	c	HRM010	Hermansky-Pudlak Syndrome 7	28
1246		LGH003	Leigh Syndrome, French Canadian Type	28
1247	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	28
1248	c	CTR132	Cataract 3, Multiple Types	28
1249		SCC011	Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	28
1250	c	MSC048	Muscular Dystrophy-Dystroglycanopathy , Type B, 1	28
1251	c	PRX060	Peroxisome Biogenesis Disorder 5a	28
1252	c	CRD181	Ceroid Lipofuscinosis, Neuronal, 8	28
1253	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	28
1254	c	CTR121	Cataract 25	28
1255		GLT005	Glutamate Formiminotransferase Deficiency	28
1256		MTC107	Mitochondrial Complex I Deficiency Due to Acad9 Deficiency	28
1257	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	28
1258	c	HYP716	Hypermanganesemia with Dystonia 1	28
1259	c	HRM007	Hermansky-Pudlak Syndrome 4	27
1260	c	ATS247	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c	27
1261	c	CTR174	Cataract 40	27
1262	c	CHR491	Charcot-Marie-Tooth Disease, Dominant Intermediate a	27
1263	c	PRX053	Peroxisome Biogenesis Disorder 14b	27
1264	c	PRX056	Peroxisome Biogenesis Disorder 11b	27
1265		HWK001	Hawkinsinuria	27
1266		3MT022	3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia	27
1267	c	CTR124	Cataract 10, Multiple Types	27
1268	c	MSC101	Muscular Dystrophy-Dystroglycanopathy , Type a, 7	27
1269	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	27
1270	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	27
1271	c	MSC044	Muscular Dystrophy-Dystroglycanopathy , Type B, 2	27
1272	c	PRK093	Parkinson Disease 8, Autosomal Dominant	27
1273		MTC068	Mitochondrial Complex V Deficiency, Nuclear Type 2	26
1274		VTM024	Vitamin B12-Responsive Methylmalonic Acidemia	26
1275		PLY052	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	26
1276		GLY061	Glycogen Storage Disease 0, Muscle	26
1277		MTH077	Methylmalonic Aciduria, Cbla Type	26
1278		DGL002	D-Glyceric Aciduria	26
1279	c	PRX054	Peroxisome Biogenesis Disorder 12a	26
1280	c	DMN017	Diamond-Blackfan Anemia 10	26
1281	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	26
1282	c	LMB047	Limb-Girdle Muscular Dystrophy, Type 1g	26
1283	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	26
1284	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	26
1285		CNG002	Congenital Bile Acid Synthesis Defect	26
1286	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	26
1287		PNC048	Pancreatic Lipase Deficiency	26
1288		MTC055	Mitochondrial Dna Depletion Syndrome 4b	26
1289	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	26
1290		CMB011	Combined Malonic and Methylmalonic Aciduria	26
1291	c	CHN018	Chondrodysplasia Punctata 2, X-Linked	25
1292	c	MSC041	Muscular Dystrophy-Dystroglycanopathy , Type a, 6	25
1293	c	MSC105	Muscular Dystrophy-Dystroglycanopathy , Type a, 13	25
1294		MTC021	Mitochondrial Complex V Deficiency	25
1295		5XP001	5-Oxoprolinase Deficiency	25
1296	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	25
1297	c	MSC102	Muscular Dystrophy-Dystroglycanopathy , Type a, 12	25
1298		LCT017	Lactate Dehydrogenase B Deficiency	25
1299	c	CTR113	Cataract 11, Multiple Types	25
1300		CNG466	Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	25
1301	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	25
1302	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
1303		GLY065	Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency	25
1304	c	PNT039	Pontocerebellar Hypoplasia, Type 7	25
1305	c	PRK065	Parkinson Disease 20, Early-Onset	25
1306	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	25
1307	c	DMN022	Diamond-Blackfan Anemia 9	25
1308		PYR018	Pyruvate Dehydrogenase Phosphatase Deficiency	25
1309	c	HRD173	Hereditary Late-Onset Parkinson Disease	25
1310	c	DMN021	Diamond-Blackfan Anemia 6	25
1311		MND023	Mend Syndrome	25
1312		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	25
1313	c	CTR169	Cataract 29	25
1314		ATY030	Atypical Pantothenate Kinase-Associated Neurodegeneration	24
1315	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	24
1316	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	24
1317	c	PRX065	Peroxisome Biogenesis Disorder 3a	24
1318		EPL206	Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions	24
1319	c	PRX091	Peroxisome Biogenesis Disorder 8a	24
1320	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	24
1321		HYD030	Hydroxykynureninuria	24
1322		FRC005	Fructosuria, Essential	24
1323	c	PRX057	Peroxisome Biogenesis Disorder 4a	24
1324	c	MSC097	Muscular Dystrophy-Dystroglycanopathy , Type a, 14	24
1325	c	ANM035	Anemia, Hypochromic Microcytic, with Iron Overload 1	24
1326		CMB014	Combined Oxidative Phosphorylation Deficiency 3	24
1327	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	24
1328		MLD010	Mild Phenylketonuria	24
1329	c	PRX048	Peroxisome Biogenesis Disorder 10a	24
1330	c	PRX046	Peroxisome Biogenesis Disorder 7a	24
1331	c	MSC046	Muscular Dystrophy-Dystroglycanopathy , Type B, 3	24
1332	P	PNT006	Pentosuria	23
1333	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	23
1334	c	MSC099	Muscular Dystrophy-Dystroglycanopathy , Type B, 14	23
1335	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	23
1336		BLC011	Bile Acid Synthesis Defect, Congenital, 3	23
1337	c	PRX052	Peroxisome Biogenesis Disorder 13a	23
1338	c	PNT050	Pontocerebellar Hypoplasia, Type 11	23
1339	c	DMN019	Diamond-Blackfan Anemia 4	23
1340	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	23
1341	c	DMN024	Diamond-Blackfan Anemia 7	23
1342		SCC002	Saccharopinuria	23
1343	c	CHR622	Charcot-Marie-Tooth Disease Type 2a2	23
1344	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
1345	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	23
1346	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	23
1347		CYS046	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type	23
1348		GLT014	Glutathionuria	23
1349	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	23
1350	c	PRX043	Peroxisome Biogenesis Disorder 6b	22
1351	c	PRX051	Peroxisome Biogenesis Disorder 6a	22
1352	c	CTR166	Cataract 33, Multiple Types	22
1353		CNZ010	Coenzyme Q10 Deficiency, Primary, 7	22
1354		MCR315	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	22
1355	c	CTR131	Cataract 17, Multiple Types	22
1356	c	PRK052	Parkinson Disease 17	22
1357	c	PRK070	Parkinson Disease 21	22
1358		CMB008	Combined Oxidative Phosphorylation Deficiency	22
1359	c	CTR181	Cataract 18	22
1360	P	HYP252	Hypochromic Microcytic Anemia with Iron Overload	22
1361	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	22
1362	c	HYP597	Hyperprolinemia, Type Ii	22
1363	c	PRX050	Peroxisome Biogenesis Disorder 9b	22
1364	c	DMN018	Diamond-Blackfan Anemia 5	22
1365	c	PRX058	Peroxisome Biogenesis Disorder 4b	22
1366	c	DMN040	Diamond-Blackfan Anemia 16	22
1367	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	22
1368		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	22
1369	c	PRK091	Parkinson Disease 4, Autosomal Dominant	22
1370	c	INT262	Intermediate Maple Syrup Urine Disease	22
1371	c	CTR180	Cataract 22, Multiple Types	22
1372	c	CTR184	Cataract 39, Multiple Types	22
1373	c	DMN029	Diamond-Blackfan Anemia 11	22
1374	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	22
1375	c	PRX047	Peroxisome Biogenesis Disorder 5b	22
1376	c	DMN006	Diamond-Blackfan Anemia 3	22
1377	c	CTR162	Cataract 47	21
1378	c	JVN058	Juvenile-Onset Parkinson's Disease	21
1379		HYP279	Hypercholanemia, Familial	21
1380	c	CTR119	Cataract 32, Multiple Types	21
1381	c	PRK099	Parkinson Disease 18, Autosomal Dominant	21
1382	c	PRX062	Peroxisome Biogenesis Disorder 8b	21
1383		VRR003	Verruciform Xanthoma of Skin	21
1384		URC006	Urocanase Deficiency	21
1385		CMB025	Combined Oxidative Phosphorylation Deficiency 10	21
1386		CMB019	Combined Oxidative Phosphorylation Deficiency 8	21
1387	c	ATS133	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g	21
1388	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	21
1389	c	DMN020	Diamond-Blackfan Anemia 8	21
1390	c	HYP713	Hypermanganesemia with Dystonia 2	21
1391	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	21
1392	c	CTR105	Cataract 12, Multiple Types	21
1393	c	MSC140	Muscular Dystrophy, Limb-Girdle, Type 2x	21
1394		MTC037	Mitochondrial Phosphate Carrier Deficiency	21
1395		CMB047	Combined Oxidative Phosphorylation Deficiency 18	20
1396		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	20
1397	c	PRK008	Parkinson Disease Type 9	20
1398	c	CTR165	Cataract 19, Multiple Types	20
1399	c	MSC038	Muscular Dystrophy-Dystroglycanopathy , Type B, 4	20
1400	c	CTR159	Cataract 35	20
1401	c	CTR182	Cataract 23, Multiple Types	20
1402	c	CTR116	Cataract 15, Multiple Types	20
1403	c	HYP290	Hypobetalipoproteinemia, Familial, 2	20
1404		FTL003	Fatal Infantile Encephalocardiomyopathy	20
1405		MTC025	Mitochondrial Myopathy with Diabetes	20
1406		CNG426	Congenital Muscular Dystrophy with Cerebellar Involvement	20
1407		BSP004	Bisphosphoglycerate Mutase Deficiency	20
1408	c	DMN028	Diamond-Blackfan Anemia 12	20
1409	c	PRX066	Peroxisome Biogenesis Disorder 3b	20
1410		CNG427	Congenital Muscular Dystrophy with Intellectual Disability	20
1411	c	ATS210	Autosomal Recessive Sideroblastic Anemia	20
1412	c	CTR183	Cataract 38	20
1413		CMB084	Combined Oxidative Phosphorylation Deficiency 34	20
1414		CRN042	Carnosinemia	20
1415	c	CTR136	Cataract 41	20
1416	c	PRK094	Parkinson Disease 11, Autosomal Dominant	20
1417	c	ANM034	Anemia, Sideroblastic, 4	20
1418	c	CTR097	Cataract 34, Multiple Types	20
1419		CMB072	Combined Oxidative Phosphorylation Deficiency 28	20
1420	c	CTR111	Cataract 36	20
1421		FTL054	Fatal Infantile Cytochrome C Oxidase Deficiency	20
1422	c	CTR163	Cataract 46, Juvenile-Onset	19
1423	c	PRK096	Parkinson Disease 13, Autosomal Dominant	19
1424		TRN067	Transcobalamin I Deficiency	19
1425	c	SDR005	Sideroblastic Anemia Acquired	19
1426	c	HYP819	Hyperlipoproteinemia, Type Id	19
1427	P	PRX064	Peroxisome Biogenesis Disorder 2b	19
1428	c	MSC137	Muscular Dystrophy, Limb-Girdle, Type 2z	19
1429		CNG428	Congenital Muscular Dystrophy Without Intellectual Disability	19
1430	c	PLL014	Pellagra-Like Syndrome	19
1431		BLC018	Bile Acid Synthesis Defect, Congenital, 6	18
1432	c	CTR139	Cataract 42	18
1433	P	HYP821	Hypermanganesemia with Dystonia	18
1434	c	PRX068	Peroxisome Biogenesis Disorder 7b	18
1435	c	CTR178	Cataract 27	18
1436	c	HYP302	Hypomagnesemia 4, Renal	18
1437	P	NMN012	Niemann-Pick Disease Type C, Juvenile Neurologic Onset	18
1438		BLC016	Bile Acid Synthesis Defect, Congenital, 5	18
1439	c	CTR157	Cataract 28	18
1440		RNL111	Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia	18
1441	c	CTR110	Cataract 26, Multiple Types	18
1442	c	CTR106	Cataract 20, Multiple Types	18
1443	c	HYP163	Hyperlipidemia Type 3	18
1444	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	18
1445	c	DMN030	Diamond-Blackfan Anemia 13	18
1446	c	PRX089	Peroxisome Biogenesis Disorder 10b	18
1447		BRN112	Brain Dopamine-Serotonin Vesicular Transport Disease	18
1448		NRD004	Neurodegeneration Due to Cerebral Folate Transport Deficiency	18
1449	c	CTR144	Cataract 43	18
1450	c	DMN039	Diamond-Blackfan Anemia 17	18
1451	c	CTR185	Cataract 30	17
1452	c	CTR160	Cataract 45	17
1453	c	PRK022	Parkinson Disease 12	17
1454		BRK013	Birk-Landau-Perez Syndrome	17
1455	c	NMN010	Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset	17
1456	c	NMN009	Niemann-Pick Disease Type C, Late Infantile Neurologic Onset	17
1457	c	NMN011	Niemann-Pick Disease Type C, Adult Neurologic Onset	17
1458	c	DWL003	Dowling-Degos Disease 2	17
1459		NNP016	Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy	17
1460	c	CHR139	Charcot-Marie-Tooth Disease Type 2c	17
1461	c	CHR147	Charcot-Marie-Tooth Disease Type 2k	17
1462	c	PRK083	Parkinson Disease 22, Autosomal Dominant	16
1463	c	CHR142	Charcot-Marie-Tooth Disease Type 2f	16
1464		GBM001	Gaba Aminotransferase Deficiency	16
1465	c	DMN005	Diamond-Blackfan Anemia 2	16
1466	c	LRR001	Lrrk2-Related Parkinson Disease	16
1467		PRD033	Periodic Paralysis with Later-Onset Distal Motor Neuropathy	16
1468	c	PRK098	Parkinson Disease 5, Autosomal Dominant	16
1469	c	DWL004	Dowling-Degos Disease 4	15
1470	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	15
1471	c	CHR143	Charcot-Marie-Tooth Disease Type 2g	15
1472	c	ESS007	Essential Pentosuria	15
1473		HRD160	Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors	15
1474		DBS003	Dibasic Amino Aciduria I	15
1475	P	ACQ013	Acquired Fructose Intolerance	14
1476		FML315	Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia	14
1477	c	CTR128	Cataract 33	14
1478	c	CHN017	Chondrodysplasia Punctata 1, X-Linked	14
1479	c	CHR550	Charcot-Marie-Tooth Disease Type 2n	14
1480	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	14
1481	c	PSD023	Pseudo-Gaucher Disease	14
1482	c	ATS261	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B	14
1483	c	CTR025	Cataract, Total Congenital	13
1484		LGH017	Leigh Syndrome with Nephrotic Syndrome	13
1485	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	13
1486	c	PRK058	Parkinson Disease 16	13
1487	c	DWL005	Dowling-Degos Disease 3	13
1488	c	FTT007	Fatty Liver Disease, Nonalcoholic 2	12
1489	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	12
1490	c	DMN045	Diamond-Blackfan Anemia-Like	12
1491	c	CHR553	Charcot-Marie-Tooth Disease Type 2q	12
1492	c	HYP333	Hyperlipidemia, Combined, 2	11
1493	c	CHR551	Charcot-Marie-Tooth Disease Type 2o	11
1494	c	PMP012	Pmp2-Related Charcot-Marie-Tooth Disease Type 1	10
1495	c	PRM209	Primary Trimethylaminuria	10
1496	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	10
1497	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	10
1498	c	DNJ004	Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	10
1499	c	CHR571	Charcot-Marie-Tooth Disease Type 5	10
1500	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	10
1501		INT043	Intestinal Disaccharidase Deficiency	10
1502	c	KRN003	Kernicterus Due to Isoimmunization	10
1503	c	INT094	Intermediate Severe Salla Disease	9
1504	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	9
1505		ERY024	Erythropoietic Uroporphyria Associated with Myeloid Malignancy	9
1506	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	9
1507	c	CHR572	Charcot-Marie-Tooth Disease Type 7	8
1508	c	FCS008	Fucosidosis Type 1	8
1509	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	8
1510	c	HRD048	Hereditary Hyperuricemia	8
1511	c	VPS003	Vps35-Related Parkinson Disease	8
1512		MTC093	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form	7
1513		FTL050	Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency	7
1514	c	CTR008	Cataract Congenital Autosomal Dominant	7
1515		IDP068	Idiopathic Malabsorption Due to Bile Acid Synthesis Defects	7
1516	c	ATS269	Autosomal Dominant Sideroblastic Anemia	6
1517		BLC013	Bile Acid Coa Ligase Deficiency and Defective Amidation	5
1518		INF150	Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	5
1519	c	HMC017	Homocystinuria Due to Defect in Methylation Cbl E	2
1520	c	HMC018	Homocystinuria Due to Defect in Methylation Cbl G	2
1521		WLS003	Wilson-Turner X-Linked Mental Retardation Syndrome	44
1522		MHM001	Mehmo Syndrome	28
1523		ERY061	Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige	33
1524		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	41
1525		3HY010	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	26
1526		MTC026	Mitochondrial Myopathy with Lactic Acidosis	26
1527	c	MGL018	Megaloblastic Anemia 1	42
1528	P	HYP658	Hypoplastic Amelogenesis Imperfecta	26
1529	c	AML006	Amelogenesis Imperfecta Hypoplastic Type, Ig	14
1530	P	HYP607	Hypercholesterolemia, Familial	79
1531	P	LVR013	Liver Disease	75
1532		ACR006	Aceruloplasminemia	73
1533		PHN003	Phenylketonuria	73
1534		WLS001	Wilson Disease	71
1535	c	HMC039	Hemochromatosis, Type 1	70
1536		LPD012	Lipoid Congenital Adrenal Hyperplasia	69
1537	c	NMN015	Niemann-Pick Disease, Type C1	68
1538		LGH007	Leigh Syndrome	67
1539	P	MPL001	Maple Syrup Urine Disease	65
1540	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	63
1541		MNK001	Menkes Disease	63
1542	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	63
1543		HYP020	Hyperprolactinemia	63
1544		RFS006	Refsum Disease, Classic	62
1545	P	HYP802	Hypocalcemia, Autosomal Dominant 1	62
1546	P	HRM001	Hermansky-Pudlak Syndrome	62
1547		LWC002	Lowe Oculocerebrorenal Syndrome	61
1548	P	CRG003	Crigler-Najjar Syndrome, Type I	61
1549		ALP103	Alpha-1-Antitrypsin Deficiency	61
1550		DBT083	Diabetes Mellitus, Permanent Neonatal	60
1551	c	CRD177	Ceroid Lipofuscinosis, Neuronal, 1	60
1552	c	MSC036	Muscular Dystrophy-Dystroglycanopathy , Type C, 5	60
1553	P	NMN002	Niemann-Pick Disease	60
1554		CRN296	Carnitine Palmitoyltransferase Ii Deficiency, Infantile	60
1555	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	59
1556	c	NMN013	Niemann-Pick Disease, Type a	59
1557	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	59
1558		HYP190	Hypoalphalipoproteinemia, Primary	58
1559	c	GCH015	Gaucher Disease, Type I	57
1560	P	HYP097	Hyperekplexia	56
1561		CNV004	Canavan Disease	56
1562		CPR004	Coproporphyria, Hereditary	56
1563		HYP052	Hyperkalemic Periodic Paralysis	55
1564	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	55
1565		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	55
1566	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	55
1567	c	TYR012	Tyrosinemia, Type I	54
1568		CYS010	Cystinosis	54
1569		MTC097	Mitochondrial Complex Iv Deficiency	54
1570		MTC027	Mitochondrial Trifunctional Protein Deficiency	54
1571		CRN239	Carnitine Deficiency, Systemic Primary	53
1572		CHY002	Chylomicron Retention Disease	52
1573		NNT017	Neonatal Adrenoleukodystrophy	52
1574		PRN001	Purine Nucleoside Phosphorylase Deficiency	52
1575	c	CHL132	Cholestasis, Progressive Familial Intrahepatic, 1	52
1576	c	OPT053	Optic Atrophy 1	52
1577		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	52
1578	c	ACT134	Acute Liver Failure	52
1579		BRT005	Barth Syndrome	51
1580	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	51
1581		ATR002	Atransferrinemia	51
1582		CHN055	Chanarin-Dorfman Syndrome	51
1583	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	50
1584		PPL049	Papillon-Lefevre Syndrome	50
1585		GYR004	Gyrate Atrophy of Choroid and Retina	50
1586		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	49
1587	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	48
1588		NPH003	Nephrocalcinosis	48
1589	P	FML068	Familial Hypocalciuric Hypercalcemia	48
1590	P	PLM085	Pulmonary Hemosiderosis	48
1591		CYS036	Cystinosis, Nephropathic	48
1592		DNN001	Danon Disease	48
1593	P	PRM001	Primary Cutaneous Amyloidosis	48
1594	c	HYP740	Hyperlipoproteinemia, Type V	48
1595	c	CHL137	Cholestasis, Progressive Familial Intrahepatic, 3	47
1596	c	GCH017	Gaucher Disease, Type Iii	47
1597	c	EXS019	Exostoses, Multiple, Type I	47
1598		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	46
1599		FML026	Familial Lipoprotein Lipase Deficiency	46
1600		CRN295	Carnitine Palmitoyltransferase I Deficiency	46
1601	c	CHL134	Cholestasis, Benign Recurrent Intrahepatic, 1	46
1602		HST006	Histidinemia	45
1603	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	45
1604	P	HRD001	Hereditary Multiple Exostoses	45
1605	P	NRD007	Neurodegeneration with Brain Iron Accumulation	45
1606	c	GCH016	Gaucher Disease, Type Ii	44
1607		MTC061	Mitochondrial Dna Depletion Syndrome 1	44
1608	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	43
1609	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	43
1610	c	HRM017	Hermansky-Pudlak Syndrome 2	43
1611	P	AMY084	Amyloidosis, Finnish Type	43
1612	c	CHL136	Cholestasis, Progressive Familial Intrahepatic, 2	43
1613	c	NMN016	Niemann-Pick Disease, Type B	42
1614	P	CNG436	Congenital Disorder of Deglycosylation	41
1615		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	41
1616		FML036	Familial Periodic Paralysis	41
1617		SNS008	Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis	41
1618	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	40
1619		DBT090	Diabetes and Deafness, Maternally Inherited	40
1620		ATX029	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	40
1621	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	40
1622		TRH001	Trehalase Deficiency	39
1623		MSC028	Muscular Dystrophy, Congenital, Megaconial Type	39
1624	c	CRD179	Ceroid Lipofuscinosis, Neuronal, 7	39
1625	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	38
1626	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	38
1627	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	38
1628		GLT018	Glut1 Deficiency Syndrome 1	37
1629	c	CRB193	Cerebral Amyloid Angiopathy, App-Related	37
1630		DCR008	Dicarboxylic Aminoaciduria	37
1631	c	HYP534	Hypomagnesemia 3, Renal	37
1632		APL017	Apolipoprotein C-Ii Deficiency	36
1633	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	36
1634	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	36
1635		NTR007	Neutral Lipid Storage Disease with Myopathy	36
1636	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	36
1637	P	HYP769	Hyperlysinemia, Type I	36
1638	P	HYP210	Hypomagnesemia 2, Renal	36
1639		AMN007	Aminoacylase 1 Deficiency	35
1640	c	INF145	Infantile Liver Failure Syndrome 1	35
1641		WRN004	Wrinkly Skin Syndrome	35
1642	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	34
1643		DHY010	Dihydrolipoamide Dehydrogenase Deficiency	34
1644		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	34
1645	P	PRR025	Perrault Syndrome	33
1646		SNG007	Sengers Syndrome	33
1647	c	CRD185	Ceroid Lipofuscinosis, Neuronal, 6	33
1648	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	32
1649	c	CRD184	Ceroid Lipofuscinosis, Neuronal, 5	32
1650		LKN026	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	32
1651	c	SCH069	Schindler Disease, Type I	32
1652	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	32
1653		HMM002	Haim-Munk Syndrome	31
1654		GCH018	Gaucher Disease, Perinatal Lethal	31
1655		MTC085	Mitochondrial Complex Iii Deficiency, Nuclear Type 1	31
1656		NRP045	Neuropathy, Ataxia, and Retinitis Pigmentosa	31
1657		GLY058	Glycogen Storage Disease 0, Liver	30
1658	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	30
1659		HSD004	Hsd10 Mitochondrial Disease	30
1660		BLC008	Bile Acid Synthesis Defect, Congenital, 2	29
1661	c	EXS020	Exostoses, Multiple, Type Ii	29
1662		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	29
1663		CMB026	Combined Oxidative Phosphorylation Deficiency 12	28
1664	c	MNT185	Mental Retardation, Autosomal Dominant 7	28
1665	P	MNT319	Mental Retardation, Autosomal Dominant 20	28
1666		BLC009	Bile Acid Synthesis Defect, Congenital, 4	28
1667	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	28
1668		LKN010	Leukoencephalopathy with Dystonia and Motor Neuropathy	28
1669	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	28
1670		DFN270	Deafness, Dystonia, and Cerebral Hypomyelination	28
1671		IMM080	Immunodeficiency 23	28
1672	c	LVR030	Liver Failure, Infantile, Transient	27
1673		ISB001	Isobutyryl-Coa Dehydrogenase Deficiency	27
1674	c	MNT212	Mental Retardation, Autosomal Dominant 26	27
1675		DFN350	Deafness, Aminoglycoside-Induced	26
1676		CKS001	Ck Syndrome	26
1677	c	HYP699	Hyperekplexia 1	26
1678	c	MNT145	Mental Retardation, Autosomal Recessive 5	26
1679	c	MNT143	Mental Retardation, Autosomal Dominant 13	26
1680	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	26
1681	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
1682	c	MNT210	Mental Retardation, Autosomal Recessive 42	25
1683	c	ATS069	Autosomal Dominant Optic Atrophy Plus Syndrome	25
1684		HYP241	Hypermethioninemia Due to Adenosine Kinase Deficiency	25
1685	c	PRR026	Perrault Syndrome 5	25
1686	c	MNT157	Mental Retardation, Autosomal Dominant 18	25
1687		MTC065	Mitochondrial Dna Depletion Syndrome 8a	25
1688	c	MNT280	Mental Retardation, Autosomal Dominant 43	25
1689	c	CRD225	Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant	25
1690	c	MNT158	Mental Retardation, Autosomal Dominant 22	25
1691	c	MNT322	Mental Retardation, Autosomal Dominant 27	25
1692	c	CHL118	Cholestasis, Benign Recurrent Intrahepatic, 2	25
1693	c	PRR020	Perrault Syndrome 1	25
1694		HYP629	Hyperphosphatasia-Intellectual Disability Syndrome	25
1695		GLT011	Glutamine Deficiency, Congenital	25
1696	c	MNT270	Mental Retardation, Autosomal Recessive 53	25
1697	c	MNT241	Mental Retardation, Autosomal Dominant 32	24
1698	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	24
1699	c	ALB025	Albinism, Ocular, with Late-Onset Sensorineural Deafness	24
1700	c	MNT166	Mental Retardation, Autosomal Recessive 39	24
1701	c	MNT222	Mental Retardation, Autosomal Dominant 29	24
1702	c	MNT214	Mental Retardation, Autosomal Dominant 24	24
1703	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
1704	c	MNT287	Mental Retardation, Autosomal Recessive 57	24
1705	c	OPT064	Optic Atrophy 11	24
1706	c	MNT246	Mental Retardation, Autosomal Dominant 38	24
1707	c	MNT213	Mental Retardation, Autosomal Recessive 40	24
1708	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	23
1709		ART103	Arthrogryposis, Mental Retardation, and Seizures	23
1710	c	MNT242	Mental Retardation, Autosomal Dominant 40	23
1711		GLY033	Glycogen Storage Disease of Heart, Lethal Congenital	23
1712	c	MNT150	Mental Retardation, Autosomal Recessive 15	23
1713	c	MNT239	Mental Retardation, Autosomal Dominant 35	23
1714	c	MNT155	Mental Retardation, Autosomal Recessive 2	23
1715	c	MNT219	Mental Retardation, Autosomal Dominant 30	23
1716	c	MNT262	Mental Retardation, Autosomal Dominant 42	23
1717	c	FML249	Familial Amyloidosis, Finnish Type	23
1718	c	MNT226	Mental Retardation, Autosomal Dominant 31	23
1719	c	MNT216	Mental Retardation, Autosomal Recessive 41	23
1720	c	MNT176	Mental Retardation, Autosomal Recessive 38	23
1721	P	PRM016	Primary Optic Atrophy	23
1722	c	MNT321	Mental Retardation, Autosomal Recessive 37	23
1723	c	MNT238	Mental Retardation, Autosomal Dominant 34	22
1724	c	MNT183	Mental Retardation, Autosomal Recessive 36	22
1725	c	MNT273	Mental Retardation, Autosomal Dominant 44	22
1726		ICH043	Ichthyosis, Spastic Quadriplegia, and Mental Retardation	22
1727		CYS045	Cystinosis, Adult Nonnephropathic	22
1728	c	MNT282	Mental Retardation, Autosomal Recessive 55	22
1729	c	MNT159	Mental Retardation, Autosomal Dominant 19	22
1730	c	MNT221	Mental Retardation, Autosomal Recessive 44	22
1731	c	MNT211	Mental Retardation, Autosomal Dominant 23	22
1732	c	PRR024	Perrault Syndrome 3	22
1733	c	MNT245	Mental Retardation, Autosomal Dominant 36	22
1734	c	MNT181	Mental Retardation, Autosomal Recessive 35	22
1735	c	OPT023	Optic Atrophy 2	22
1736	c	MNT236	Mental Retardation, Autosomal Dominant 39	21
1737	c	MNT244	Mental Retardation, Autosomal Recessive 49	21
1738		HYP187	Hypertryptophanemia	21
1739	c	MNT179	Mental Retardation, Autosomal Dominant 21	21
1740	c	MNT227	Mental Retardation, Autosomal Recessive 46	21
1741	c	INF138	Infantile Liver Failure Syndrome 2	21
1742	c	MNT325	Mental Retardation, Autosomal Recessive 61	21
1743	c	MNT177	Mental Retardation, Autosomal Recessive 27	21
1744	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	21
1745	c	MNT240	Mental Retardation, Autosomal Dominant 33	21
1746	c	OPT025	Optic Atrophy 6	21
1747	c	MNT285	Mental Retardation, Autosomal Recessive 58	21
1748	c	PRR021	Perrault Syndrome 4	21
1749	c	OPT060	Optic Atrophy 8	21
1750	c	ATP003	Atp6v0a2-Related Cutis Laxa	21
1751	c	MNT323	Mental Retardation, Autosomal Dominant 48	21
1752		CMB042	Combined Oxidative Phosphorylation Deficiency 16	21
1753	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	21
1754	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	20
1755	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	20
1756	c	MNT234	Mental Retardation, Autosomal Recessive 48	20
1757		OPT074	Optic Atrophy 7 with or Without Auditory Neuropathy	20
1758	c	MNT220	Mental Retardation, Autosomal Recessive 45	20
1759		HRL006	Harel-Yoon Syndrome	20
1760	c	MNT154	Mental Retardation, Autosomal Recessive 14	20
1761	c	MNT328	Mental Retardation, Autosomal Dominant 52	20
1762	c	MNT275	Mental Retardation, Autosomal Recessive 60	20
1763	c	MNT215	Mental Retardation, Autosomal Recessive 43	20
1764	c	HYP510	Hyperekplexia 2	20
1765	c	OPT065	Optic Atrophy 9	20
1766	c	MNT225	Mental Retardation, Autosomal Recessive 47	20
1767	c	MNT272	Mental Retardation, Autosomal Dominant 41	19
1768	c	MNT324	Mental Retardation, Autosomal Dominant 49	19
1769		CNZ009	Coenzyme Q10 Deficiency, Primary, 5	19
1770	c	MNT263	Mental Retardation, Autosomal Recessive 51	19
1771	c	HYP445	Hypomagnesemia 6, Renal	19
1772	c	MNT162	Mental Retardation, Autosomal Recessive 24	19
1773	c	MNT163	Mental Retardation, Autosomal Recessive 30	19
1774	c	MNT329	Mental Retardation, Autosomal Dominant 53	19
1775		CPP001	Copper Deficiency, Familial Benign	18
1776	c	MNT286	Mental Retardation, Autosomal Dominant 45	18
1777	c	MNT172	Mental Retardation, Autosomal Recessive 25	18
1778	c	MNT327	Mental Retardation, Autosomal Dominant 51	18
1779	c	MNT167	Mental Retardation, Autosomal Recessive 16	18
1780	c	MNT165	Mental Retardation, Autosomal Recessive 28	18
1781	c	PRR022	Perrault Syndrome 2	18
1782	c	MNT180	Mental Retardation, Autosomal Recessive 33	18
1783	c	MNT264	Mental Retardation, Autosomal Recessive 52	18
1784	c	MNT330	Mental Retardation, Autosomal Dominant 54	18
1785	c	HYP519	Hyperekplexia 3	18
1786	c	MNT326	Mental Retardation, Autosomal Dominant 50	18
1787	c	EXS021	Exostoses, Multiple, Type Iii	18
1788	c	MNT151	Mental Retardation, Autosomal Recessive 18	18
1789	c	MNT186	Mental Retardation, Autosomal Dominant 10	18
1790	c	MNT184	Mental Retardation, Autosomal Dominant 11	18
1791	c	MNT277	Mental Retardation, Autosomal Recessive 54	18
1792	c	MNT279	Mental Retardation, Autosomal Dominant 47	18
1793	c	MNT182	Mental Retardation, Autosomal Recessive 19	18
1794	c	MNT281	Mental Retardation, Autosomal Recessive 59	18
1795	c	MNT243	Mental Retardation, Autosomal Recessive 50	18
1796	c	MNT170	Mental Retardation, Autosomal Recessive 23	17
1797	c	OPT024	Optic Atrophy 5	17
1798	c	MNT278	Mental Retardation, Autosomal Dominant 46	17
1799	c	MNT284	Mental Retardation, Autosomal Recessive 56	17
1800	c	MNT161	Mental Retardation, Autosomal Recessive 29	17
1801	c	MNT160	Mental Retardation, Autosomal Recessive 31	16
1802	c	PRR033	Perrault Syndrome 6	16
1803		MTC106	Mitochondrial Non-Syndromic Sensorineural Deafness	16
1804	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	16
1805	c	HYP825	Hyperekplexia 4	15
1806	c	MNT332	Mental Retardation, Autosomal Dominant 56	14
1807	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	14
1808	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	14
1809	c	SPR097	Sporadic Hyperekplexia	13
1810	c	OPT059	Optic Atrophy 4	12
1811	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
1812	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	11
1813	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	11
1814	c	SCN047	Secondary Pulmonary Hemosiderosis	9
1815	c	ATS394	Autosomal Dominant Mental Retardation 55	8
1816	c	ATS395	Autosomal Dominant Mental Retardation 61	8
1817	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	7
1818		HYP492	Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation	6
1819		ATS077	Autosomal Dominant Optic Atrophy and Peripheral Neuropathy	5
1820	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	37
1821	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	33
1822		CYS001	Cystic Fibrosis	84
1823		ADR007	Adrenoleukodystrophy	71
1824		SMT004	Smith-Lemli-Opitz Syndrome	68
1825	P	PRP003	Porphyria Cutanea Tarda	66
1826		TNG002	Tangier Disease	64
1827		ABT001	Abetalipoproteinemia	63
1828		LSC001	Lesch-Nyhan Syndrome	62
1829		LYS012	Lysosomal Acid Lipase Deficiency	60
1830		KRN002	Kearns-Sayre Syndrome	60
1831		LNG073	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	60
1832		WLK001	Walker-Warburg Syndrome	59
1833	P	NPH012	Nephrotic Syndrome	59
1834	c	LPD015	Lipodystrophy, Familial Partial, Type 2	59
1835		LBR002	Leber Hereditary Optic Neuropathy	57
1836	c	MSC037	Muscular Dystrophy-Dystroglycanopathy , Type a, 4	56
1837		GLB001	Gilbert Syndrome	56
1838		PSD014	Pseudopseudohypoparathyroidism	55
1839		ACR056	Acrodermatitis Enteropathica, Zinc-Deficiency Type	52
1840		ALB001	Albright's Hereditary Osteodystrophy	52
1841	c	FML012	Familial Partial Lipodystrophy	52
1842	P	SJG002	Sjogren-Larsson Syndrome	51
1843		CRB151	Cerebral Creatine Deficiency Syndrome 1	50
1844		MSC077	Muscle Eye Brain Disease	50
1845		RNL024	Renal Glucosuria	49
1846	P	PRT078	Partial Lipodystrophy	46
1847	c	NPH055	Nephrotic Syndrome, Type 1	46
1848		PRS127	Pearson Marrow-Pancreas Syndrome	44
1849	c	LPD019	Lipodystrophy, Partial, Acquired	43
1850		MTC054	Mitochondrial Dna Depletion Syndrome 7	41
1851		CRD075	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	41
1852	P	HYP758	Hyperuricemic Nephropathy, Familial Juvenile, 1	40
1853		PRM237	Primary Hypomagnesemia	39
1854		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	37
1855	c	MSC104	Muscular Dystrophy-Dystroglycanopathy , Type C, 1	37
1856		SLT014	Salt and Pepper Developmental Regression Syndrome	37
1857		HYP550	Hypomagnesemia 1, Intestinal	35
1858	c	CRB176	Cerebral Amyloid Angiopathy, Itm2b-Related, 1	35
1859	c	LPD021	Lipodystrophy, Familial Partial, Type 3	35
1860	c	FML015	Familial Nephrotic Syndrome	34
1861	c	NPH049	Nephrotic Syndrome, Type 2	34
1862		BJR001	Bjornstad Syndrome	32
1863	c	OPT068	Optic Atrophy 3, Autosomal Dominant	32
1864		BLC007	Bile Acid Synthesis Defect, Congenital, 1	31
1865	c	NPH054	Nephrotic Syndrome, Type 3	30
1866		MTC058	Mitochondrial Dna Depletion Syndrome 6	29
1867	c	NPH072	Nephrotic Syndrome, Type 7	29
1868	c	LPD040	Lipodystrophy, Familial Partial, Type 1	27
1869		HYP527	Hypomagnesemia 5, Renal, with Ocular Involvement	26
1870	c	LPD034	Lipodystrophy, Familial Partial, Type 4	25
1871	c	LPD036	Lipodystrophy, Familial Partial, Type 6	25
1872	c	NPH047	Nephrotic Syndrome, Type 4	25
1873	c	HYP813	Hyperuricemic Nephropathy, Familial Juvenile, 2	24
1874	c	LPD030	Lipodystrophy, Familial Partial, Type 5	24
1875		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	22
1876		MTH079	Methylmalonic Acidemia and Homocysteinemia, Cblx Type	22
1877		MYP017	Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay	22
1878	c	NPH073	Nephrotic Syndrome, Type 8	21
1879	c	NPH074	Nephrotic Syndrome, Type 9	21
1880	c	CHL143	Cholestasis, Progressive Familial Intrahepatic, 4	21
1881	c	NPH070	Nephrotic Syndrome, Type 6	20
1882		CNZ008	Coenzyme Q10 Deficiency, Primary, 6	20
1883	c	HYP718	Hyperuricemic Nephropathy, Familial Juvenile, 4	20
1884	c	NPH096	Nephrotic Syndrome, Type 12	19
1885	c	NPH094	Nephrotic Syndrome 14	19
1886	c	NPH095	Nephrotic Syndrome, Type 11	19
1887		BLD065	Blue Diaper Syndrome	19
1888	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
1889	c	NPH076	Nephrotic Syndrome, Type 10	17
1890	c	LPR019	Lipe-Related Familial Partial Lipodystrophy	17
1891	c	NPH092	Nephrotic Syndrome 15	17
1892	c	NPH093	Nephrotic Syndrome, Type 13	17
1893	c	HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	15
1894	c	NPH101	Nephrotic Syndrome 16	15
1895	c	SJG003	Sjogren-Larsson-Like Syndrome	6
1896	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	59
1897		FNC009	Fanconi-Bickel Syndrome	53
1898		MTC056	Mitochondrial Dna Depletion Syndrome 4a	51
1899	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	48
1900		AMY082	Amyloidosis, Familial Visceral	46
1901	P	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	46
1902	c	CRB174	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	36
1903	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	31
1904	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	31
1905		TMT002	Temtamy Preaxial Brachydactyly Syndrome	29
1906	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	27
1907	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	27
1908	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	26
1909	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	24
1910	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	23
1911	c	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	44
1912	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	38
1913	P	XLN110	X-Linked Charcot-Marie-Tooth Disease	36
1914	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	35
1915	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	27
1916	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	24
1917		KRT002	Keratomalacia	54
1918		CYS040	Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation	21