Metabolic Diseases Category (2220 diseases)

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

#	Family	MCID	Name	MIFTS
1	P	BDY004	Body Mass Index Quantitative Trait Locus 11	74
2	c	BDY007	Body Mass Index Quantitative Trait Locus 1	48
3	c	BDY013	Body Mass Index Quantitative Trait Locus 5	11
4	c	BDY009	Body Mass Index Quantitative Trait Locus 3	10
5	c	BDY014	Body Mass Index Quantitative Trait Locus 6	10
6	c	BDY008	Body Mass Index Quantitative Trait Locus 2	10
7	c	BDY018	Body Mass Index Quantitative Trait Locus 15	9
8	c	BDY016	Body Mass Index Quantitative Trait Locus 13	9
9		ABD017	Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	48
10	c	INH020	Inherited Metabolic Disorder	54
11	P	ABD014	Abdominal Obesity-Metabolic Syndrome 1	58
12		CRB025	Carbohydrate Metabolic Disorder	48
13		HYP835	Hypothalamic Obesity	44
14		TNG012	Tango2-Related Metabolic Encephalopathy and Arrhythmias	15
15		NTR005	Nutritional Deficiency Disease	60
16		LPT006	Leptin Receptor Deficiency	40
17		LPD008	Lipid Metabolism Disorder	65
18		MMS001	Momo Syndrome	30
19	P	DRG021	Drug Metabolism, Poor, Cyp2c19-Related	28
20	c	ABD013	Abdominal Obesity-Metabolic Syndrome 3	27
21		INT273	Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity	13
22		AMN002	Amino Acid Metabolic Disorder	49
23		MNT318	Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome	25
24		CHN016	Cohen Syndrome	54
25		LPT014	Leptin Deficiency or Dysfunction	40
26		OBS081	Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair	36
27		HYD021	Hydrocephalus Obesity Hypogonadism	17
28	P	THP004	Thiopurines, Poor Metabolism of, 1	35
29	P	SRF003	Surfactant Metabolism Dysfunction, Pulmonary, 2	30
30		CNG376	Congenital Leptin Deficiency	26
31	c	BDY020	Body Mass Index Quantitative Trait Locus 19	43
32		ANR042	Aniridia - Ptosis - Intellectual Disability - Familial Obesity	16
33		XLN122	X-Linked Intellectual Disability - Short Stature - Obesity	8
34		MRB003	Morbid Obesity	62
35		URC002	Urea Cycle Disorder	50
36	c	BDY019	Body Mass Index Quantitative Trait Locus 18	43
37	c	BDY017	Body Mass Index Quantitative Trait Locus 14	41
38		PHS001	Phosphorus Metabolism Disease	40
39	c	BDY005	Body Mass Index Quantitative Trait Locus 9	29
40	c	BDY015	Body Mass Index Quantitative Trait Locus 12	28
41	c	BDY010	Body Mass Index Quantitative Trait Locus 4	27
42	c	BDY012	Body Mass Index Quantitative Trait Locus 7	27
43	c	BDY006	Body Mass Index Quantitative Trait Locus 8	27
44		INB001	Inborn Amino Acid Metabolism Disorder	16
45	P	THM010	Thiamine Metabolism Dysfunction Syndrome 2	44
46	c	SRF004	Surfactant Metabolism Dysfunction, Pulmonary, 1	28
47	c	SRF005	Surfactant Metabolism Dysfunction, Pulmonary, 3	28
48	c	SRF008	Surfactant Metabolism Dysfunction, Pulmonary, 4	25
49	c	SRF007	Surfactant Metabolism Dysfunction, Pulmonary, 5	22
50	c	THM014	Thiamine Metabolism Dysfunction Syndrome 4	22
51		MTL002	Metal Metabolism Disorder	40
52		MNR003	Mineral Metabolism Disease	38
53		SRF006	Surfactant Dysfunction	37
54		PRP098	Proprotein Convertase 1/3 Deficiency	31
55		THY064	Thyroid Hormone Metabolism, Abnormal	23
56		PYR035	Pyrimidine Metabolic Disorder	21
57		MRB006	Morbid Obesity and Spermatogenic Failure	19
58		IRN002	Iron Metabolism Disease	60
59		GLC008	Glucose Metabolism Disease	54
60		CHP002	Chops Syndrome	32
61		RPD006	Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	27
62		3HY005	3-Hydroxyacyl-Coa Dehydrogenase Deficiency	62
63		MTB004	Metabolic Acidosis	51
64		OBS037	Obesity-Hypoventilation Syndrome	50
65		ORG002	Organic Acidemia	38
66		SPS204	Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity	28
67		RHH001	Rohhad	27
68	c	THM013	Thiamine Metabolism Dysfunction Syndrome 5	23
69		HMC042	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	22
70		MTB007	Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration	53
71		MTC005	Mitochondrial Metabolism Disease	46
72		MRS001	Marasmus	43
73		MTH021	Methylmalonic Acidemia with Homocystinuria	39
74		STR018	Steroid Inherited Metabolic Disorder	35
75		PRN024	Purine-Pyrimidine Metabolic Disorder	23
76		HST007	Histidine Metabolism Disease	23
77		CNZ007	Coenzyme Q10 Deficiency, Primary, 2	21
78	P	MCR323	Microcephaly, Short Stature, and Impaired Glucose Metabolism 1	19
79		RTN173	Retinal Dystrophy and Obesity	19
80		WLM019	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome	14
81		CLP006	Clopidogrel Resistance	45
82	c	BDY011	Body Mass Index Quantitative Trait Locus 10	41
83		MNT259	Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies	18
84		DSR002	Disorders of Intracellular Cobalamin Metabolism	17
85		CLB031	Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	16
86		PRL046	Prolactin Deficiency with Obesity and Enlarged Testes	10
87		OVR113	Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis	5
88		CRD029	Cardiomyopathy Hypogonadism Metabolic Anomalies	3
89		LYS002	Lysosomal Storage Disease	56
90		BLR008	Bilirubin Metabolic Disorder	53
91		OBS015	Obesity, Hyperphagia, and Developmental Delay	26
92		DVL020	Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features	21
93		GMM004	Gamma-Amino Butyric Acid Metabolism Disorder	18
94		DBT084	Diabetes Mellitus, Ketosis-Prone	62
95	P	ACQ009	Acquired Metabolic Disease	32
96		PLS010	Plasma Protein Metabolism Disease	25
97		BRN135	Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency	21
98	c	MCR316	Microcephaly, Short Stature, and Impaired Glucose Metabolism 2	21
99		VTM003	Vitamin Metabolic Disorder	20
100	c	THP005	Thiopurines, Poor Metabolism of, 2	13
101	c	DRG023	Drug Metabolism, Altered, Ces1-Related	6
102	P	DRG022	Drug Metabolism, Altered, Cyp2c8-Related	6
103		OVR063	Overnutrition	53
104	P	CHR654	Charcot-Marie-Tooth Disease, Axonal, Type 2e	53
105	P	MGL001	Megaloblastic Anemia	52
106	c	CHR350	Charcot-Marie-Tooth Disease, Axonal, Type 2k	45
107		ACT149	Acetaminophen Metabolism	41
108	c	CHR646	Charcot-Marie-Tooth Disease, Axonal, Type 2b	41
109	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	38
110	c	CHR649	Charcot-Marie-Tooth Disease, Axonal, Type 2d	38
111	c	CHR351	Charcot-Marie-Tooth Disease, Axonal, Type 2n	34
112	c	CHR352	Charcot-Marie-Tooth Disease, Axonal, Type 2f	33
113	c	CHR542	Charcot-Marie-Tooth Disease, Axonal, Type 2t	32
114	c	CHR608	Charcot-Marie-Tooth Disease, Axonal, Type 2p	31
115	c	CHR626	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	31
116	c	CHR547	Charcot-Marie-Tooth Disease, Axonal, Type 2u	31
117	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	30
118	c	CHR650	Charcot-Marie-Tooth Disease, Axonal, Type 2b1	30
119	c	CHR657	Charcot-Marie-Tooth Disease, Axonal, Type 2j	29
120	c	CHR660	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a	29
121	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	29
122	c	CHR544	Charcot-Marie-Tooth Disease, Axonal, Type 2w	29
123	c	CHR671	Charcot-Marie-Tooth Disease, Axonal, Type 2r	28
124	c	CHR651	Charcot-Marie-Tooth Disease, Axonal, Type 2b2	27
125	c	CHR652	Charcot-Marie-Tooth Disease, Axonal, Type 2i	27
126	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	26
127		ANT078	Antipyrine Metabolism	25
128	c	CHR617	Charcot-Marie-Tooth Disease, Axonal, Type 2z	24
129	c	CHR668	Charcot-Marie-Tooth Disease, Axonal, Type 2o	24
130	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	23
131	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	23
132	c	DRG020	Drug Metabolism, Poor, Cyp2d6-Related	22
133		SHR102	Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures	22
134	c	CHR678	Charcot-Marie-Tooth Disease, Axonal, Type 2dd	21
135	c	CHR548	Charcot-Marie-Tooth Disease, Axonal, Type 2v	21
136		MTC079	Mitochondrial Pyruvate Carrier Deficiency	19
137		ERY030	Erythrocyte Lactate Transporter Defect	18
138		INT226	Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	18
139		SHR107	Short Stature-Obesity Syndrome	17
140		XLN211	X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	17
141		INT298	Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	16
142		MDF004	Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia	14
143		OBS060	Obesity Due to Sim1 Deficiency	12
144		SVR045	Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency	12
145	c	ATS421	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect	9
146		OBS068	Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	8
147		ANM041	Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism	8
148		CHR069	Chronic Metabolic Polyneuropathy	4
149		HYL006	Hyaluronan Metabolism, Defect in	3
150	P	DBT026	Diabetes Mellitus, Noninsulin-Dependent	92
151		CYS001	Cystic Fibrosis	83
152	P	PRK057	Parkinson Disease, Late-Onset	77
153		PHN003	Phenylketonuria	75
154	c	HMC039	Hemochromatosis, Type 1	74
155	P	DBT085	Diabetes Mellitus, Insulin-Dependent	73
156		ADR007	Adrenoleukodystrophy	72
157		FBR012	Fabry Disease	72
158	P	DMN001	Diamond-Blackfan Anemia	71
159	P	TYS001	Tay-Sachs Disease	70
160	P	AMY004	Amyloidosis	69
161	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	69
162	c	HRD010	Hereditary Spastic Paraplegia	69
163		SMT004	Smith-Lemli-Opitz Syndrome	69
164	c	NMN015	Niemann-Pick Disease, Type C1	68
165		LWC002	Lowe Oculocerebrorenal Syndrome	67
166	c	GLY008	Glycogen Storage Disease Ii	67
167	c	MCP050	Mucopolysaccharidosis, Type Ii	67
168	P	GCH001	Gaucher's Disease	66
169	P	KRB001	Krabbe Disease	66
170	c	LPM012	Lipomatosis, Multiple	66
171	c	MCL062	Mucolipidosis Ii Alpha/beta	65
172	P	ENC018	Encephalopathy	65
173		CRB011	Cerebrotendinous Xanthomatosis	65
174	P	HML002	Hemolytic Anemia	65
175	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	65
176	c	MCP049	Mucopolysaccharidosis, Type Vii	65
177	c	GCH015	Gaucher Disease, Type I	65
178		HYP066	Hyperglycemia	65
179	P	BRD002	Bardet-Biedl Syndrome	65
180		TNG002	Tangier Disease	64
181	c	MCP001	Mucopolysaccharidosis Iii	63
182		LSC001	Lesch-Nyhan Syndrome	63
183	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	63
184		RFS006	Refsum Disease, Classic	63
185	c	GLY060	Glycogen Storage Disease Ia	62
186	P	CTS001	Cutis Laxa	62
187	c	MCP052	Mucopolysaccharidosis, Type Vi	62
188	c	GLY003	Glycogen Storage Disease Iii	62
189		ALP103	Alpha-1-Antitrypsin Deficiency	62
190	P	NRN021	Neuronal Ceroid Lipofuscinosis	62
191	P	GLY013	Glycogen Storage Disease	62
192	c	ANM038	Anemia, Autoimmune Hemolytic	61
193		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	61
194		LYS012	Lysosomal Acid Lipase Deficiency	60
195	P	PRP029	Porphyria	60
196	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
197	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
198	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	60
199		ARG002	Argininosuccinic Aciduria	60
200	c	MCP004	Mucopolysaccharidosis Iv	60
201	c	ALM001	Al Amyloidosis	60
202	c	PRT132	Protoporphyria, Erythropoietic, 1	59
203	c	PRX045	Peroxisome Biogenesis Disorder 1b	59
204		GLC003	Glucose Intolerance	59
205	c	NMN016	Niemann-Pick Disease, Type B	59
206	c	CRP023	Carpenter Syndrome 1	59
207	P	NPH012	Nephrotic Syndrome	59
208	c	GCH016	Gaucher Disease, Type Ii	59
209	c	GM1007	Gm1 Gangliosidosis	58
210	P	OCL002	Oculocutaneous Albinism	58
211	c	MNN047	Mannosidosis, Alpha B, Lysosomal	58
212		PRP082	Porphyria, Congenital Erythropoietic	58
213		PRP032	Porphyria Variegata	57
214		HYP060	Hyperinsulinism	57
215	c	GLY005	Glycogen Storage Disease Vi	57
216		CPR004	Coproporphyria, Hereditary	57
217	c	GM1004	Gm1-Gangliosidosis, Type I	57
218	P	ZLL001	Zellweger Syndrome	57
219		HYP005	Hypokalemia	56
220		CHN055	Chanarin-Dorfman Syndrome	56
221	c	AMY009	Amyloidosis Aa	56
222		MTC146	Mitochondrial Complex I Deficiency, Nuclear Type 1	56
223		ASP002	Aspartylglucosaminuria	56
224		HYP276	Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant	56
225		ART002	Arts Syndrome	56
226		MTC097	Mitochondrial Complex Iv Deficiency	55
227		HRL003	Hurler Syndrome	55
228	P	HYP050	Hyperinsulinemic Hypoglycemia	55
229	c	ANM036	Anemia, Sideroblastic, 1	55
230		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	55
231	c	GLY004	Glycogen Storage Disease V	55
232	c	GCH017	Gaucher Disease, Type Iii	55
233		XNT003	Xanthomatosis	54
234	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	54
235	P	PRM002	Primary Hyperoxaluria	54
236		MLT135	Multiple Sulfatase Deficiency	54
237	c	DMN023	Diamond-Blackfan Anemia 1	53
238		PRT038	Protein-Energy Malnutrition	53
239	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	53
240	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
241		ERL001	Early Myoclonic Encephalopathy	53
242	c	NMN014	Niemann-Pick Disease, Type C2	53
243	P	LCT001	Lactic Acidosis	53
244	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	53
245	c	MCP043	Mucopolysaccharidosis, Type Iiia	53
246	P	LPM005	Lipomatosis	53
247		CLC006	Calcinosis	53
248	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	53
249	c	GLY007	Glycogen Storage Disease Iv	52
250		PRN011	Pernicious Anemia	52
251		GLC012	Galactosialidosis	52
252	P	PRC019	Precocious Puberty	52
253	c	CNT075	Central Precocious Puberty	52
254		BRT005	Barth Syndrome	52
255		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	52
256	c	CNG027	Congenital Hemolytic Anemia	52
257	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	52
258	P	MTC133	Mitochondrial Myopathy	52
259		NNT017	Neonatal Adrenoleukodystrophy	52
260	c	GLY011	Glycogen Storage Disease Vii	52
261		GLC009	Glucosephosphate Dehydrogenase Deficiency	52
262		PRD004	Prediabetes Syndrome	51
263	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	51
264	c	PRX059	Peroxisome Biogenesis Disorder 1a	51
265	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
266	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	50
267	P	NMN002	Niemann-Pick Disease	50
268	P	NGH001	Night Blindness	50
269	P	NLX004	Neu-Laxova Syndrome 1	50
270		DNN001	Danon Disease	50
271		ORT008	Orotic Aciduria	49
272	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	49
273	c	GM2005	Gm2-Gangliosidosis, Ab Variant	49
274	c	GM2006	Gm2 Gangliosidosis	49
275	P	TYR004	Tyrosinemia	49
276	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	49
277	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
278	c	ACT078	Acute Porphyria	49
279	P	ERL057	Early Infantile Epileptic Encephalopathy	49
280		FRB001	Farber Lipogranulomatosis	49
281	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	49
282		HYP025	Hyperphosphatemia	49
283	c	HRD039	Hereditary Amyloidosis	48
284		VTM002	Vitamin B12 Deficiency	48
285		HYP347	Hypotonia-Cystinuria Syndrome	48
286	P	HYP058	Hypervitaminosis a	48
287	c	HMC010	Hemochromatosis, Type 3	48
288	P	NNT009	Neonatal Diabetes Mellitus	48
289		TRN022	Transcobalamin Ii Deficiency	48
290	c	ALB019	Albinism, Oculocutaneous, Type Iv	47
291		HRT031	Hartnup Disorder	47
292	c	NPH055	Nephrotic Syndrome, Type 1	47
293	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	47
294	c	TYR013	Tyrosinemia, Type Ii	47
295	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	47
296	c	CHR095	Chronic Progressive External Ophthalmoplegia	47
297	c	BRD044	Bardet-Biedl Syndrome 17	47
298	P	GNG009	Gangliosidosis	47
299		LPP002	Lipoprotein Glomerulopathy	47
300	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	47
301	c	HMC009	Hemochromatosis Type 2	46
302	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	46
303	c	CTS045	Cutis Laxa, Autosomal Dominant 1	46
304		PRX001	Peroxisomal Disease	46
305	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	46
306	c	HMC035	Hemochromatosis, Type 4	46
307		MNC019	Monocarboxylate Transporter 1 Deficiency	46
308	P	MCL001	Mucolipidosis	46
309	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
310	c	ALB015	Albinism, Oculocutaneous, Type V	46
311	P	MNN018	Mannosidosis	45
312	c	GM1005	Gm1-Gangliosidosis, Type Ii	45
313		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	45
314		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	45
315	c	BRD032	Bardet-Biedl Syndrome 14	45
316		RBF001	Riboflavin Deficiency	45
317	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	45
318	P	TRM004	Trimethylaminuria	45
319	c	MCP047	Mucopolysaccharidosis, Type Iva	45
320	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	45
321	c	3MT015	3-Methylglutaconic Aciduria, Type I	45
322		PRS127	Pearson Marrow-Pancreas Syndrome	44
323	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
324		MHR001	Mohr-Tranebjaerg Syndrome	44
325	P	MTC004	Mitochondrial Encephalomyopathy	44
326	P	JVN024	Juvenile Hereditary Hemochromatosis	44
327	c	TYR011	Tyrosinemia, Type Iii	44
328	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	43
329	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	43
330	c	HYP794	Hyperoxaluria, Primary, Type I	43
331	c	3MT014	3-Methylglutaconic Aciduria, Type V	43
332	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	43
333	P	SDR003	Sideroblastic Anemia	43
334		PHS021	Phosphoglycerate Dehydrogenase Deficiency	43
335		HYD058	Hydrops, Lactic Acidosis, and Sideroblastic Anemia	43
336		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	43
337		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	43
338	c	HYP057	Hypervitaminosis D	43
339		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	43
340		NNK001	Nonaka Myopathy	42
341	c	BRD033	Bardet-Biedl Syndrome 13	42
342	c	FML015	Familial Nephrotic Syndrome	42
343	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	42
344	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	42
345	c	BRD048	Bardet-Biedl Syndrome 18	42
346	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
347	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	41
348		DBT090	Diabetes and Deafness, Maternally Inherited	41
349	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	41
350	c	ALB016	Albinism, Oculocutaneous, Type Vii	41
351	c	MCL016	Mucolipidosis Iii Gamma	41
352	c	HMC021	Hemochromatosis, Type 2a	41
353	P	MYG005	Myoglobinuria	41
354	P	XNT004	Xanthinuria	41
355		ARB001	Ariboflavinosis	40
356	c	ERL056	Early-Onset Parkinson's Disease	40
357	c	SPN330	Spondylocostal Dysostosis 5	40
358	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
359	c	GLY098	Glycogen Storage Disease, Type Ixd	40
360	c	XNT010	Xanthinuria, Type I	40
361	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
362	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	40
363	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	40
364		BTN004	Biotin Deficiency	40
365	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	40
366		CHL045	Choline Deficiency Disease	40
367	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	40
368	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	40
369	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	40
370		HRL004	Hurler-Scheie Syndrome	39
371		END028	Endemic Goiter	39
372	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	39
373		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	39
374	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	39
375	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	39
376	c	BRD035	Bardet-Biedl Syndrome 15	39
377		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	39
378	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
379	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	39
380	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	39
381	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	39
382	c	GLY023	Glycogen Storage Disease Type 0	39
383	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	38
384	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	38
385		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	38
386	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	38
387	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
388		NTR007	Neutral Lipid Storage Disease with Myopathy	38
389	c	MYC068	Myoclonic Epilepsy of Infancy	38
390	c	NPH049	Nephrotic Syndrome, Type 2	38
391	c	HYP602	Hyperoxaluria, Primary, Type Ii	38
392	c	MYG007	Myoglobinuria, Recurrent	38
393		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	38
394	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	38
395		TRS021	Triosephosphate Isomerase Deficiency	38
396	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	38
397		CLS049	Classic Phenylketonuria	38
398	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	38
399	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	38
400		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	38
401	c	GLY044	Glycogen Storage Disease Ixc	38
402	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	38
403	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	38
404	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
405	c	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	37
406		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	37
407	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	37
408	c	PRK090	Parkinson Disease 3, Autosomal Dominant	37
409	P	SPS008	Spastic Ataxia	37
410	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
411	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	37
412	c	MTC010	Mitochondrial Dna Depletion Syndrome	37
413	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	37
414	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
415	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	37
416	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	37
417		CTN011	Cutaneous Porphyria	37
418		CHL050	Cholesterol Ester Storage Disease	37
419	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
420	c	GLY016	Glycogen Storage Disease Ib	36
421	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	36
422	c	NPH070	Nephrotic Syndrome, Type 6	36
423		SLT014	Salt and Pepper Developmental Regression Syndrome	36
424		HYP550	Hypomagnesemia 1, Intestinal	36
425		CHR387	Chromosome Xp21 Deletion Syndrome	36
426	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	36
427	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	36
428	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	36
429	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	36
430		GLY032	Glycosylphosphatidylinositol Deficiency	36
431	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	36
432		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	36
433	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	36
434	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
435	c	BRD045	Bardet-Biedl Syndrome 19	36
436	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	36
437		LGH012	Leigh Syndrome with Leukodystrophy	36
438	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	35
439		SNG007	Sengers Syndrome	35
440	c	MCP051	Mucopolysaccharidosis, Type Ix	35
441	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	35
442	c	NPH054	Nephrotic Syndrome, Type 3	35
443	c	PRK025	Parkinson Disease 10	35
444	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	35
445		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	35
446		PCD001	Pica Disease	35
447	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	35
448	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
449	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
450	c	XNT011	Xanthinuria, Type Ii	34
451		FLT009	Folate Malabsorption, Hereditary	34
452	c	HRD173	Hereditary Late-Onset Parkinson Disease	34
453	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	34
454		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	34
455		INF159	Infantile Sialic Acid Storage Disease	34
456	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	34
457	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
458	c	BRD047	Bardet-Biedl Syndrome 16	34
459	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
460	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	34
461	c	HRD142	Hereditary Xanthinuria	34
462	c	MCP048	Mucopolysaccharidosis, Type Ivb	33
463	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	33
464	c	ORT011	Orthostatic Hypotension 1	33
465	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
466		KLL014	Kelley-Seegmiller Syndrome	33
467	c	ZLL011	Zellweger Spectrum Disorder	33
468	P	3MT007	3-Methylglutaconic Aciduria	33
469	c	PRP091	Porphyria Cutanea Tarda, Type I	33
470		GBT001	Gaba-Transaminase Deficiency	33
471	c	DMN021	Diamond-Blackfan Anemia 6	33
472	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	33
473	c	CNG379	Congenital Disorder of Glycosylation, Type It	33
474		MTC029	Mitochondrial Complex V Deficiency, Nuclear Type 1	33
475	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
476		HSD004	Hsd10 Mitochondrial Disease	33
477	c	GM1006	Gm1-Gangliosidosis, Type Iii	33
478	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
479	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	32
480	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	32
481	c	CNG195	Congenital Disorder of Glycosylation, Type Id	32
482	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	32
483	c	BRW009	Brown-Vialetto-Van Laere Syndrome 1	32
484	c	PRK085	Parkinson Disease 1, Autosomal Dominant	32
485	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
486	c	HYP603	Hyperoxaluria, Primary, Type Iii	32
487	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	32
488	c	BNG079	Benign Adult Familial Myoclonic Epilepsy	32
489	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	32
490		INC022	Inclusion-Cell Disease	32
491		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	32
492	P	BRW001	Brown-Vialetto-Van Laere Syndrome	32
493	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	32
494	c	ORT012	Orthostatic Hypotension 2	32
495		PHS022	Phosphoserine Phosphatase Deficiency	32
496	c	HMC034	Hemochromatosis, Type 5	32
497	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	31
498		PLY010	Polyclonal Hypergammaglobulinemia	31
499		CMB020	Combined Saposin Deficiency	31
500	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	31
501		SRC015	Sarcosinemia	31
502	c	SPS031	Spastic Paraplegia 23	31
503	c	MYC083	Myoclonic Epilepsy, Familial Infantile	31
504	c	MCP046	Mucopolysaccharidosis, Type Iiid	31
505	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	31
506	P	SPS012	Spastic Paraplegia 3a	31
507		CRT011	Carotenemia	31
508	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	31
509	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	31
510	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
511	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	31
512	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	31
513	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	31
514	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	31
515	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
516	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	30
517		FLC001	Folic Acid Deficiency Anemia	30
518	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	30
519	c	PRK071	Parkinson Disease 14, Autosomal Recessive	30
520	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	30
521		RBS005	Ribose 5-Phosphate Isomerase Deficiency	30
522	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
523	c	ACQ027	Acquired Cutis Laxa	30
524	P	EPL198	Epilepsy, Myoclonic Juvenile	30
525	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	30
526		PHS014	Phosphoglycerate Kinase 1 Deficiency	30
527	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
528		GLY078	Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency	30
529	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	30
530	c	PRX060	Peroxisome Biogenesis Disorder 5a	30
531	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
532		GLT005	Glutamate Formiminotransferase Deficiency	29
533	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
534	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
535	c	NPH072	Nephrotic Syndrome, Type 7	29
536		MCL022	Mucolipidoses	29
537	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	29
538	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
539	c	SPS039	Spastic Paraplegia 5a	29
540	c	MTC116	Mitochondrial Myopathy, Infantile, Transient	29
541	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	29
542	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	29
543		GLT028	Glutaric Aciduria Iii	29
544	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	29
545		PYR021	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	29
546	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
547	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
548	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	29
549	c	GLY097	Glycogen Storage Disease Ixb	29
550	c	GCH013	Gaucher Disease, Type Iiic	29
551	c	MTC074	Metachromatic Leukodystrophy, Adult Form	29
552	c	PRX056	Peroxisome Biogenesis Disorder 11b	29
553	c	GLY017	Glycogen Storage Disease Ic	29
554	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	29
555	c	GLY009	Glycogen Storage Disease Xv	29
556	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	28
557	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	28
558	c	SPS092	Spastic Paraplegia 11	28
559	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	28
560	c	TYP035	Type 1 Diabetes Mellitus 11	28
561		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	28
562	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	28
563	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	28
564	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
565	c	GLY043	Glycogen Storage Disease Xii	28
566	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	28
567	c	PRK093	Parkinson Disease 8, Autosomal Dominant	28
568	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	28
569	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	28
570	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
571	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	28
572	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	28
573	c	GLY057	Glycogen Storage Disease X	28
574		PYR009	Pyridoxine Deficiency Anemia	28
575	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	28
576	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	28
577	c	EPL210	Epilepsy, Progressive Myoclonic, 6	28
578	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	28
579	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	28
580	c	PRX048	Peroxisome Biogenesis Disorder 10a	28
581	c	PRX054	Peroxisome Biogenesis Disorder 12a	28
582	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
583		MYP097	Myopathy with Lactic Acidosis, Hereditary	28
584	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	27
585	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	27
586	c	DBT054	Diabetes Mellitus, Insulin-Dependent, 24	27
587	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
588	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	27
589		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	27
590	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	27
591	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	27
592		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	27
593	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	27
594	c	INF122	Infantile Krabbe Disease	27
595	c	TYP037	Type 1 Diabetes Mellitus 13	27
596		ACD011	Acid Phosphatase Deficiency	27
597		LKT001	Leukotriene C4 Synthase Deficiency	27
598		MNC004	Monoclonal Paraproteinemia	27
599	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	27
600	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	27
601	c	PRX051	Peroxisome Biogenesis Disorder 6a	27
602	c	EPL155	Epilepsy, Progressive Myoclonic, 8	27
603	c	CRP022	Carpenter Syndrome 2	27
604		PRT094	Protoporphyria, Erythropoietic, X-Linked	27
605	c	CHR522	Charcot-Marie-Tooth Disease, Dominant Intermediate E	27
606	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
607		CMB017	Combined Oxidative Phosphorylation Deficiency 6	26
608	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
609		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	26
610	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	26
611	c	GLY006	Glycogen Storage Disease Viii	26
612	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	26
613		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	26
614		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	26
615	c	SPS036	Spastic Paraplegia 3	26
616	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	26
617	c	TYP033	Type 1 Diabetes Mellitus 7	26
618	c	SPS091	Spastic Paraplegia 4	26
619	c	PRK022	Parkinson Disease 12	26
620	c	SPS021	Spastic Paraplegia 10	26
621	c	DMN017	Diamond-Blackfan Anemia 10	26
622		MLD011	Mild Hyperphenylalaninemia	26
623		CNZ006	Coenzyme Q10 Deficiency, Primary, 1	26
624	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
625	c	ALB017	Albinism, Oculocutaneous, Type Vi	26
626	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
627	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
628	c	HRD186	Hereditary Spastic Paraplegia 51	26
629	c	BRD050	Bardet-Biedl Syndrome 21	26
630	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
631	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	26
632	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	26
633	P	PRM227	Primary Orthostatic Hypotension	26
634		DMT001	Dimethylglycine Dehydrogenase Deficiency	26
635	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	26
636	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	25
637	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	25
638	c	PRX050	Peroxisome Biogenesis Disorder 9b	25
639	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	25
640		MTC030	Mitochondrial Complex V Deficiency, Nuclear Type 3	25
641	c	NPH047	Nephrotic Syndrome, Type 4	25
642	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
643	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	25
644	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	25
645		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	25
646	c	PRK065	Parkinson Disease 20, Early-Onset	25
647	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	25
648	c	NPH102	Nephrotic Syndrome, Type 14	25
649	c	ATS210	Autosomal Recessive Sideroblastic Anemia	25
650	c	PRX046	Peroxisome Biogenesis Disorder 7a	25
651	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
652	c	PRX091	Peroxisome Biogenesis Disorder 8a	25
653	c	DMN022	Diamond-Blackfan Anemia 9	25
654	c	TYP031	Type 1 Diabetes Mellitus 5	25
655	c	PRX057	Peroxisome Biogenesis Disorder 4a	25
656	c	SPS025	Spastic Paraplegia 15	25
657	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	25
658	c	PRX065	Peroxisome Biogenesis Disorder 3a	25
659		LCT013	Lactase Deficiency, Congenital	25
660	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	25
661	c	TYP032	Type 1 Diabetes Mellitus 6	25
662	c	PRX043	Peroxisome Biogenesis Disorder 6b	25
663	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	25
664		SZR018	Seizures, Scoliosis, and Macrocephaly Syndrome	25
665	c	FML324	Familial Porphyria Cutanea Tarda	24
666	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	24
667	c	EPL154	Epilepsy, Progressive Myoclonic, 9	24
668		CMB015	Combined Oxidative Phosphorylation Deficiency 4	24
669		MTH013	Methylmalonate Semialdehyde Dehydrogenase Deficiency	24
670	c	DMN040	Diamond-Blackfan Anemia 16	24
671	c	TYP028	Type 1 Diabetes Mellitus 2	24
672	c	TYP027	Type 1 Diabetes Mellitus 10	24
673		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	24
674		MTC181	Mitochondrial Dna-Related Progressive External Ophthalmoplegia	24
675	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	24
676	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	24
677	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	24
678	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	24
679	c	PRX052	Peroxisome Biogenesis Disorder 13a	24
680	c	SPS027	Spastic Paraplegia 17	24
681	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	24
682	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	24
683		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	24
684	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	24
685	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	24
686		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	24
687		CMB046	Combined Oxidative Phosphorylation Deficiency 11	24
688	c	DBT093	Diabetes Mellitus, Noninsulin-Dependent, 1	24
689	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	24
690	c	EPL134	Epilepsy, Progressive Myoclonic 7	24
691	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	24
692	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	24
693		MRC009	Mercaptolactate-Cysteine Disulfiduria	23
694	c	DMN019	Diamond-Blackfan Anemia 4	23
695	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	23
696		3HY011	3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	23
697	c	BRW008	Brown-Vialetto-Van Laere Syndrome 2	23
698	c	PRK052	Parkinson Disease 17	23
699	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	23
700	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	23
701		MLT150	Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia	23
702	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	23
703	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	23
704	c	EPL188	Epilepsy, Progressive Myoclonic, 10	23
705	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	23
706	c	DMN024	Diamond-Blackfan Anemia 7	23
707		HYP719	Hyperglycinemia, Lactic Acidosis, and Seizures	23
708		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	23
709	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	23
710		MYP149	Myopathy, Mitochondrial, and Ataxia	23
711	c	DMN018	Diamond-Blackfan Anemia 5	23
712	c	PRX058	Peroxisome Biogenesis Disorder 4b	23
713		GCH010	Gaucher Disease, Atypical, Due to Saposin C Deficiency	23
714	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	23
715	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	23
716	c	PRX047	Peroxisome Biogenesis Disorder 5b	23
717	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	23
718	c	NPH073	Nephrotic Syndrome, Type 8	23
719	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	23
720	c	PRX062	Peroxisome Biogenesis Disorder 8b	23
721		SDH011	Sedoheptulokinase Deficiency	23
722		PYR025	Pyruvate Dehydrogenase E2 Deficiency	23
723	c	BRD051	Bardet-Biedl Syndrome 20	23
724	c	PRK091	Parkinson Disease 4, Autosomal Dominant	23
725	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	23
726	c	HMC019	Hemochromatosis, Type 2b	23
727	c	TYP036	Type 1 Diabetes Mellitus 12	23
728	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
729	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	23
730	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
731		CPP004	Copper Deficiency Myelopathy	23
732	c	TYP038	Type 1 Diabetes Mellitus 15	23
733		CMB045	Combined Oxidative Phosphorylation Deficiency 19	23
734		CMB064	Combined Oxidative Phosphorylation Deficiency 24	23
735		MYP099	Myopathy, Isolated Mitochondrial, Autosomal Dominant	23
736	c	PRC047	Precocious Puberty, Central, 1	23
737	c	GLY001	Glycogen Storage Disease Ix	23
738	c	SPS013	Spastic Paraplegia 8	23
739	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	23
740	c	PRK099	Parkinson Disease 18, Autosomal Dominant	23
741	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	22
742	c	GLY059	Glycogen Storage Disease Xiii	22
743	c	PRK070	Parkinson Disease 21	22
744	c	SPS020	Spastic Paraplegia 1	22
745	c	JVN058	Juvenile-Onset Parkinson's Disease	22
746	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	22
747		HYP690	Hyper-Beta-Alaninemia	22
748	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	22
749	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	22
750	c	PRK008	Parkinson Disease Type 9	22
751		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	22
752		CMB018	Combined Oxidative Phosphorylation Deficiency 7	22
753	c	NPH074	Nephrotic Syndrome, Type 9	22
754		LPY002	Lipoyltransferase 1 Deficiency	22
755	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	22
756	c	NPH103	Nephrotic Syndrome, Type 15	22
757	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	22
758	c	DMN029	Diamond-Blackfan Anemia 11	22
759	c	HYP713	Hypermanganesemia with Dystonia 2	22
760		CMB044	Combined Oxidative Phosphorylation Deficiency 14	22
761	c	NLX003	Neu-Laxova Syndrome 2	22
762	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	22
763	c	NPH095	Nephrotic Syndrome, Type 11	22
764	c	DMN006	Diamond-Blackfan Anemia 3	22
765	c	DMN005	Diamond-Blackfan Anemia 2	22
766	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	22
767	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	22
768	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	22
769	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	22
770		SPS190	Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly	22
771	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	22
772	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	22
773	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	22
774	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	22
775	P	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	22
776	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	22
777		SRN001	Serine Deficiency	22
778	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	22
779		CMB013	Combined Oxidative Phosphorylation Deficiency 2	22
780	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	22
781	c	ANM034	Anemia, Sideroblastic, 4	22
782	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	21
783	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	21
784	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	21
785	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	21
786		CMB065	Combined Oxidative Phosphorylation Deficiency 26	21
787		CMB049	Combined Oxidative Phosphorylation Deficiency 17	21
788		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	21
789	c	PRX066	Peroxisome Biogenesis Disorder 3b	21
790	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	21
791	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	21
792	P	HYP821	Hypermanganesemia with Dystonia	21
793		HMC036	Homocystinuria Without Methylmalonic Aciduria	21
794	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	21
795		MTC137	Mitochondrial Complex V Deficiency, Nuclear Type 4	21
796	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	21
797		CNZ011	Coenzyme Q10 Deficiency, Primary, 8	21
798	c	DMN020	Diamond-Blackfan Anemia 8	21
799	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	21
800	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	21
801	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	21
802		MTC087	Mitochondrial Complex Iii Deficiency, Nuclear Type 4	21
803		CMB043	Combined Oxidative Phosphorylation Deficiency 9	21
804		CMB016	Combined Oxidative Phosphorylation Deficiency 5	21
805		ISL116	Isolated Complex Iii Deficiency	21
806	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	21
807	c	SPS037	Spastic Paraplegia 31	21
808	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	21
809	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	21
810	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	21
811	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	21
812	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	21
813		MTH040	Methylmalonyl-Coa Epimerase Deficiency	21
814		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	21
815	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	20
816	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	20
817	c	NPH096	Nephrotic Syndrome, Type 12	20
818	c	DMN028	Diamond-Blackfan Anemia 12	20
819		MTC115	Mitochondrial Myopathy, Lethal, Infantile	20
820	P	PRX064	Peroxisome Biogenesis Disorder 2b	20
821	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	20
822	c	PRK094	Parkinson Disease 11, Autosomal Dominant	20
823	c	SPS041	Spastic Paraplegia 6	20
824	c	PRC046	Precocious Puberty, Central, 2	20
825	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	20
826	P	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	20
827		CMB077	Combined Oxidative Phosphorylation Deficiency 30	20
828	c	PRX089	Peroxisome Biogenesis Disorder 10b	20
829		CMB082	Combined Oxidative Phosphorylation Deficiency 33	20
830		ISL082	Isolated Atp Synthase Deficiency	20
831		CMB048	Combined Oxidative Phosphorylation Deficiency 15	20
832	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	20
833	c	HYP564	Hypocalcemia, Autosomal Dominant 2	19
834		MTC095	Mitochondrial Complex Iii Deficiency, Nuclear Type 7	19
835		PLY114	Polyglucosan Body Myopathy 2	19
836	c	TYP039	Type 1 Diabetes Mellitus 17	19
837		CRT066	Cortisone Reductase Deficiency 2	19
838	c	PRX068	Peroxisome Biogenesis Disorder 7b	19
839	c	PRM150	Primary Localized Amyloidosis	19
840	c	DBT094	Diabetes Mellitus, Insulin-Dependent, 10	19
841	c	TYP034	Type 1 Diabetes Mellitus 8	19
842	c	SPS023	Spastic Paraplegia 13	19
843		CMB071	Combined Oxidative Phosphorylation Deficiency 27	19
844		GLY094	Glycine Encephalopathy with Normal Serum Glycine	19
845		CMB051	Combined Oxidative Phosphorylation Deficiency 21	19
846		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	19
847		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	19
848		CRT065	Cortisone Reductase Deficiency 1	19
849	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	19
850		CMB079	Combined Oxidative Phosphorylation Deficiency 29	19
851		PHS029	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	19
852	c	MLT167	Multiple Mitochondrial Dysfunctions Syndrome 6	19
853	c	DBT034	Diabetes Mellitus, Insulin-Dependent, 20	19
854	c	DMN039	Diamond-Blackfan Anemia 17	19
855	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	19
856		CMB076	Combined Oxidative Phosphorylation Deficiency 31	19
857	c	PRK083	Parkinson Disease 22, Autosomal Dominant	19
858		CMB063	Combined Oxidative Phosphorylation Deficiency 25	19
859	c	NPH076	Nephrotic Syndrome, Type 10	19
860		MTC098	Mitochondrial Complex Iii Deficiency, Nuclear Type 9	19
861	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	19
862	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	19
863		LPD042	Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency	19
864		CMB052	Combined Oxidative Phosphorylation Deficiency 20	19
865		HYP722	Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	19
866	c	PRK096	Parkinson Disease 13, Autosomal Dominant	19
867	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	19
868	c	SPS028	Spastic Paraplegia 18	19
869	c	SPS042	Spastic Paraplegia 9	18
870	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	18
871	c	NPH104	Nephrotic Syndrome, Type 16	18
872	c	EPL217	Epilepsy, Juvenile Myoclonic 10	18
873	c	TYP040	Type 1 Diabetes Mellitus 18	18
874		MTC090	Mitochondrial Complex Iii Deficiency, Nuclear Type 6	18
875	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	18
876	c	DMN030	Diamond-Blackfan Anemia 13	18
877		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	18
878	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	18
879		CRB137	Cerebral Creatine Deficiency Syndrome	18
880	c	DBT038	Diabetes Mellitus, Insulin-Dependent, 5	18
881	c	MYC086	Myoclonic Epilepsy, Juvenile 4	18
882	c	EPL232	Epileptic Encephalopathy, Early Infantile, 68	18
883	c	SPS034	Spastic Paraplegia 26	18
884	c	LRR001	Lrrk2-Related Parkinson Disease	18
885	c	NPH093	Nephrotic Syndrome, Type 13	18
886	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	18
887		CNZ004	Coenzyme Q10 Deficiency, Primary, 3	18
888	c	SPS032	Spastic Paraplegia 24	18
889	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	18
890		GLY085	Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency	18
891		PRM123	Paramyloidosis	17
892		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	17
893	c	EPL233	Epileptic Encephalopathy, Early Infantile, 69	17
894		NMN008	Niemann-Pick Disease Type C, Severe Perinatal Form	17
895	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	17
896	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	17
897		2MN001	2-Aminoadipic 2-Oxoadipic Aciduria	17
898	c	SPS029	Spastic Paraplegia 19	17
899	P	ACT241	Acute Bilirubin Encephalopathy	17
900	c	SPN121	Spondylocostal Dysostosis 1	17
901		MLT155	Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	17
902	c	EPL186	Epilepsy, Juvenile Myoclonic 9	17
903	c	SPS033	Spastic Paraplegia 25	17
904	c	SPS035	Spastic Paraplegia 29	17
905	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	17
906	c	NPH105	Nephrotic Syndrome, Type 17	17
907	c	DBT082	Diabetes Mellitus, Insulin-Dependent, 12	17
908	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	17
909	c	DBT050	Diabetes Mellitus, Insulin-Dependent, 15	17
910	c	NPH107	Nephrotic Syndrome, Type 19	17
911	c	PRK058	Parkinson Disease 16	17
912	c	AHM002	Ah Amyloidosis	17
913		CMB085	Combined Oxidative Phosphorylation Deficiency 35	17
914	c	NPH106	Nephrotic Syndrome, Type 18	16
915		ATY025	Atypical Glycine Encephalopathy	16
916	c	EPL234	Epileptic Encephalopathy, Early Infantile, 70	16
917		GLT036	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to	16
918	c	SPS161	Spastic Paraplegia 32	16
919	c	SPS080	Spastic Paraplegia 51	16
920	c	GLY093	Glycogen Storage Disease Ixa	16
921	c	SPS026	Spastic Paraplegia 16	16
922	c	TYP029	Type 1 Diabetes Mellitus 3	16
923	c	MYG006	Myoglobinuria, Autosomal Dominant	16
924	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	16
925		MTC089	Mitochondrial Complex Iii Deficiency, Nuclear Type 3	16
926	c	HRD188	Hereditary Spastic Paraplegia 72	16
927	c	PRK098	Parkinson Disease 5, Autosomal Dominant	16
928	c	RRM004	Rrm2b-Related Mitochondrial Dna Depletion Syndrome	16
929	c	SPS022	Spastic Paraplegia 12	16
930	c	LTB003	Ltbp4-Related Cutis Laxa	16
931		ATS112	Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity	16
932	c	TYP030	Type 1 Diabetes Mellitus 4	16
933	c	TYS005	Tay-Sachs Disease, B1 Variant	16
934	c	DMN045	Diamond-Blackfan Anemia-Like	16
935		MLT154	Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type	16
936		LYS024	Lysosomal and Lipase Deficiency	15
937		PRM138	Pure Mitochondrial Myopathy	15
938	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	15
939	c	SPS024	Spastic Paraplegia 14	15
940	c	DBT032	Diabetes Mellitus, Insulin-Dependent, 22	15
941	c	DBT057	Diabetes Mellitus, Insulin-Dependent, 6	15
942	c	SPS038	Spastic Paraplegia 39	15
943		GNT042	Genetic Recurrent Myoglobinuria	15
944	c	PRT135	Protoporphyria, Erythropoietic, 2	15
945	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	15
946	c	DBT077	Diabetes Mellitus, Insulin-Dependent, 19	15
947		HYD055	Hydroxylysinuria	15
948		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	15
949	c	DBT033	Diabetes Mellitus, Noninsulin-Dependent, 2	14
950		MTH003	Methylmalonic Aciduria and Homocystinuria Type Cble	14
951		MTH002	Methylmalonic Aciduria and Homocystinuria Type Cblg	14
952		ZLL010	Zellweger-Like Syndrome Without Peroxisomal Anomalies	14
953	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	14
954	c	EFM001	Efemp2-Related Cutis Laxa	14
955	c	DMN047	Diamond-Blackfan Anemia 18	14
956	c	DBT079	Diabetes Mellitus, Insulin-Dependent, 21	14
957	c	DBT053	Diabetes Mellitus, Insulin-Dependent, 23	14
958	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	14
959	c	MYC085	Myoclonic Epilepsy, Juvenile 3	14
960	c	DBT056	Diabetes Mellitus, Insulin-Dependent, 4	14
961	c	DBT059	Diabetes Mellitus, Insulin-Dependent, 8	14
962	c	DBT048	Diabetes Mellitus, Insulin-Dependent, 11	14
963	c	DBT055	Diabetes Mellitus, Insulin-Dependent, 3	14
964	P	JVN036	Juvenile Sialidosis Type 2	14
965		GNR029	Generalized Galactose Epimerase Deficiency	14
966		ATS233	Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	14
967	c	PSD023	Pseudo-Gaucher Disease	14
968	c	DBT049	Diabetes Mellitus, Insulin-Dependent, 13	14
969		MTH068	Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect	13
970	c	DBT052	Diabetes Mellitus, Insulin-Dependent, 18	13
971	c	DBT051	Diabetes Mellitus, Insulin-Dependent, 17	13
972	c	DBT086	Diabetes Mellitus, Noninsulin-Dependent, 5	13
973	c	MLT069	Multiple Mitochondrial Dysfunctions Syndrome 2	13
974	c	DBT058	Diabetes Mellitus, Insulin-Dependent, 7	13
975	P	MTC014	Mitochondrial Dna Deletion Syndromes	13
976	c	TFR001	Tfr2-Related Hereditary Hemochromatosis	13
977		PHS019	Phosphohydroxylysinuria	13
978	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	13
979	c	SPS040	Spastic Paraplegia 5b	12
980	c	PRM209	Primary Trimethylaminuria	12
981	c	DMN049	Diamond-Blackfan Anemia 20	12
982	c	SPS230	Spastic Paraplegia Type 49	12
983		HYP485	Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency	12
984	c	ACQ002	Acquired Night Blindness	12
985	c	SPS165	Spastic Paraplegia 47	11
986	c	DBT097	Diabetes Mellitus, Noninsulin-Dependent, 4	11
987	c	DBT095	Diabetes Mellitus, Noninsulin-Dependent, 3	11
988	c	MTH069	Methylmalonic Acidemia Due to Transcobalamin Receptor Defect	10
989	c	SPN122	Spondylocostal Dysostosis 2	10
990		FLN005	Folinic Acid-Responsive Seizures	10
991	c	SPS214	Spastic Ataxia 4	10
992	c	SPS171	Spastic Ataxia 5	10
993		GLY052	Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset	10
994	c	VPS003	Vps35-Related Parkinson Disease	10
995	c	SPN124	Spondylocostal Dysostosis 4	10
996		CHR474	Chronic Diarrhea Due to Glucoamylase Deficiency	10
997	c	SPN123	Spondylocostal Dysostosis 3	10
998	c	SCN039	Secondary Central Precocious Puberty	10
999		GLY074	Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset	10
1000		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
1001	c	INT094	Intermediate Severe Salla Disease	10
1002		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
1003		ERY041	Erythrocyte Galactose Epimerase Deficiency	9
1004	c	LCT020	Lactic Acidosis, Chronic Adult Form	9
1005	c	DMN048	Diamond-Blackfan Anemia 19	9
1006	c	SPS163	Spastic Ataxia 3	9
1007	c	SPS162	Spastic Ataxia 1	9
1008	c	TYS006	Tay-Sachs Disease, B Variant, Adult Form	9
1009	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	9
1010	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	9
1011	c	LTN017	Late-Infantile/juvenile Krabbe Disease	9
1012	c	ACT189	Acute Neonatal Citrullinemia Type I	9
1013	c	ADL071	Adult Krabbe Disease	9
1014	c	GM2001	Gm2 Gangliosidosis, 0 Variant	9
1015	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	9
1016	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	9
1017	c	FBL003	Fbln5-Related Cutis Laxa	8
1018		MNM005	Minimal Pigment Oculocutaneous Albinism Type 1	8
1019	c	SPS170	Spastic Ataxia 2	8
1020	c	EPL009	Epilepsy Progressive Myoclonic Type 3	8
1021	c	ADL083	Adult-Onset Citrullinemia Type I	8
1022	c	DBT096	Diabetes Mellitus, Congenital Autoimmune	8
1023	P	TTL001	Total Internal Ophthalmoplegia	8
1024	c	ALP056	Alpha-Mannosidosis, Adult Form	8
1025	c	ALP055	Alpha-Mannosidosis, Infantile Form	8
1026	c	SPS229	Spastic Ataxia 8	8
1027	c	SPS172	Spastic Ataxia 7	8
1028		DRR012	Diarrhea, Chronic, with Villous Atrophy	8
1029	c	CNG348	Congenital Sialidosis Type 2	7
1030		CNG301	Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance	7
1031		CNG300	Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance	7
1032		TRN049	Transient Tyrosinemia of the Newborn	7
1033		CNG299	Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance	7
1034		CNG304	Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance	7
1035		TTR020	Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria	7
1036		CNG305	Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance	7
1037		RNN007	Reunion Island Larsen-Like Syndrome	7
1038	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	7
1039	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	7
1040	P	ERY016	Erythropoietic Protoporphyria, Autosomal Recessive	6
1041	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	6
1042	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	6
1043		DBT003	Diabetic Peripheral Angiopathy	6
1044		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	6
1045		TRN050	Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency	6
1046	c	ATS408	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3	6
1047	c	LCT010	Lactic Acidosis Congenital Infantile	5
1048		MTC180	Mitochondrial Dna-Related Dystonia	5
1049		XYL001	Xylt1-Cdg	5
1050	c	FST011	Fastkd2-Related Infantile Mitochondrial Encephalomyopathy	5
1051		ISL027	Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type	5
1052	P	SYC001	Say Carpenter Syndrome	5
1053		ATS405	Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction	5
1054		HRD143	Hereditary Hypercarotenemia and Vitamin a Deficiency	4
1055		CRB012	Cerebral Folate Receptor Alpha Deficiency	4
1056	c	MYG002	Myoglobinuria Dominant Form	4
1057		ADN058	Adenylosuccinase Lyase Deficiency	3
1058		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	29
1059		AYZ001	Ayazi Syndrome	9
1060		RCK004	Rickets	66
1061		MLT118	Multiple Acyl-Coa Dehydrogenase Deficiency	65
1062		CMR002	Coumarin Resistance	48
1063		3HY007	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	45
1064		GRC001	Gracile Syndrome	33
1065		MCR257	Microcephaly, Amish Type	27
1066		OBS050	Obesity Due to Congenital Leptin Deficiency	23
1067		CHL110	Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency	11
1068	P	PRD006	Prader-Willi Syndrome	62
1069		KWS001	Kwashiorkor	46
1070		FRC001	Fructose-1,6-Bisphosphatase Deficiency	45
1071		IRN004	Iron-Refractory Iron Deficiency Anemia	42
1072	c	PRD028	Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15	17
1073	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	13
1074	c	PRD023	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2	13
1075	c	PRD025	Prader-Willi Syndrome Due to Imprinting Mutation	11
1076	c	PRD042	Prader-Willi-Like Syndrome Due to a Point Mutation	7
1077	c	PRD024	Prader-Willi Syndrome Due to Translocation	6
1078	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	5
1079		GLC006	Galactosemia	65
1080		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	51
1081		ADN024	Adenine Phosphoribosyltransferase Deficiency	50
1082		TTR005	Tetrahydrobiopterin Deficiency	33
1083		3HY001	3-Hydroxyisobutyric Aciduria	25
1084	c	BRD010	Bardet-Biedl Syndrome 1	58
1085		ALS001	Alstrom Syndrome	55
1086		BTN003	Biotinidase Deficiency	55
1087		APP015	Apparent Mineralocorticoid Excess	54
1088		HLC001	Holocarboxylase Synthetase Deficiency	53
1089		CRB186	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to	53
1090		ISV001	Isovaleric Acidemia	48
1091		ALP077	Alpha-Methylacetoacetic Aciduria	44
1092	P	CRB059	Cerebellar Degeneration	40
1093		HYP364	Hyperostosis Frontalis Interna	30
1094		DGL002	D-Glyceric Aciduria	29
1095	c	PRM015	Primary Cerebellar Degeneration	27
1096	P	PNT006	Pentosuria	24
1097	c	SBC039	Subacute Cerebellar Degeneration	22
1098	c	ESS007	Essential Pentosuria	18
1099		THP001	Thiopurine S Methyltranferase Deficiency	17
1100		DPL003	Diploid-Triploid Mosaicism	16
1101		NTR002	Nutritional Optic Neuropathy	15
1102		EFV001	Efavirenz, Poor Metabolism of	13
1103		MN1002	Man1b1-Cdg	11
1104		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	61
1105	c	FTT008	Fatty Liver Disease, Nonalcoholic 1	61
1106	c	BRD014	Bardet-Biedl Syndrome 2	61
1107	P	NNL004	Nonalcoholic Fatty Liver Disease	56
1108	P	LDD007	Liddle Syndrome 1	55
1109		CRB045	Cerebellar Hypoplasia	50
1110	c	BRD013	Bardet-Biedl Syndrome 12	49
1111		GLY014	Glycerol Kinase Deficiency	47
1112	c	BRD016	Bardet-Biedl Syndrome 4	46
1113		SLR001	Sialuria	44
1114		MLT018	Multiple Carboxylase Deficiency	44
1115		IRN008	Iron Overload in Africa	42
1116	c	BRD015	Bardet-Biedl Syndrome 3	41
1117		MTH078	Methylmalonic Aciduria, Cblb Type	40
1118		ASP024	Asparagine Synthetase Deficiency	35
1119		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	35
1120		MLN011	Malonyl-Coa Decarboxylase Deficiency	33
1121		CNG016	Congenital Intrinsic Factor Deficiency	33
1122		2MT003	2-Methylbutyryl-Coa Dehydrogenase Deficiency	32
1123		MTH056	Methylmalonic Aciduria and Homocystinuria, Cblf Type	31
1124		HWK001	Hawkinsinuria	29
1125		FRC005	Fructosuria, Essential	27
1126		SCC011	Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	26
1127		AMN012	Aminoacidopathies	25
1128		CLR029	Clark-Baraitser Syndrome	23
1129		SCC002	Saccharopinuria	23
1130	c	BMN004	Biemond Syndrome Ii	19
1131	P	BMN001	Biemond Syndrome	14
1132	c	FTT007	Fatty Liver Disease, Nonalcoholic 2	13
1133	c	LDD009	Liddle Syndrome 3	13
1134	c	LDD008	Liddle Syndrome 2	13
1135		CMR005	Camera-Marugo-Cohen Syndrome	12
1136		TGL001	Tiglic Acidemia	11
1137		MPL011	Maple Syrup Urine Disease, Mild Variant	11
1138		WNS001	Weinstein Kliman Scully Syndrome	4
1139	c	BMN003	Biemond Syndrome Type 1	3
1140		ISC004	Ischemia	67
1141	P	DBT009	Diabetes Mellitus	67
1142		FTT001	Fatty Liver Disease	66
1143		ETN001	Eating Disorder	65
1144	P	CHR071	Charcot-Marie-Tooth Disease	65
1145	c	CNG411	Congenital Disorder of Glycosylation, Type in	65
1146		HYP056	Hypoglycemia	64
1147		PRP083	Porphyria, Acute Intermittent	63
1148		GST033	Gestational Diabetes	63
1149		SDD001	Sudden Infant Death Syndrome	63
1150	P	MTR004	Maturity-Onset Diabetes of the Young	61
1151	P	HYP724	Hyperlipoproteinemia, Type Iii	61
1152		WST001	West Syndrome	60
1153		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	60
1154	c	SPN294	Spinocerebellar Ataxia 1	60
1155	P	SPN301	Spinocerebellar Ataxia 2	60
1156	c	MCL013	Mucolipidosis Iv	59
1157	c	SPN327	Spinocerebellar Ataxia, Autosomal Recessive 1	59
1158	P	CTR002	Cataract	58
1159	c	PSD108	Pseudohypoparathyroidism, Type Ia	57
1160	P	PRM051	Primary Pigmented Nodular Adrenocortical Disease	57
1161	c	MCL046	Mucolipidosis Iii Alpha/beta	56
1162	P	HYP614	Hyperlipidemia, Familial Combined	56
1163	P	HYP014	Hyperuricemia	56
1164		VTM027	Vitamin D-Dependent Rickets, Type 2a	56
1165	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	55
1166		CTR172	Citrullinemia, Classic	55
1167	P	LMB006	Limb-Girdle Muscular Dystrophy	54
1168		IRN001	Iron Deficiency Anemia	54
1169		MCR004	Macroglobulinemia	54
1170	c	SPN291	Spinocerebellar Ataxia 7	53
1171	c	CRG004	Crigler-Najjar Syndrome, Type Ii	53
1172	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	53
1173		LPD009	Lipid Storage Disease	53
1174		HMS001	Hemosiderosis	52
1175		VTM028	Vitamin E, Familial Isolated Deficiency of	52
1176		BTY001	Butyrylcholinesterase Deficiency	52
1177	P	SHR001	Short Bowel Syndrome	52
1178	c	BRD012	Bardet-Biedl Syndrome 11	52
1179	c	HRM005	Hermansky-Pudlak Syndrome 1	51
1180		HYP732	Hyperalphalipoproteinemia 1	51
1181	P	HYP818	Hypobetalipoproteinemia, Familial, 1	51
1182	c	HRM008	Hermansky-Pudlak Syndrome 5	51
1183		GLC004	Galactokinase Deficiency	51
1184		FSH001	Fish-Eye Disease	51
1185	c	HYP740	Hyperlipoproteinemia, Type V	51
1186	P	PSD015	Pseudohypoparathyroidism	51
1187	c	MSC170	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	51
1188		SPH010	Sphingolipidosis	50
1189	P	FML035	Familial Hyperlipidemia	50
1190	c	HRM006	Hermansky-Pudlak Syndrome 3	50
1191		MTC020	Mitochondrial Complex Ii Deficiency	50
1192	c	SPN314	Spinocerebellar Ataxia 10	50
1193	c	SPN309	Spinocerebellar Ataxia 6	50
1194		HYP088	Hyper-Igd Syndrome	49
1195	c	SPN293	Spinocerebellar Ataxia 12	49
1196		HMZ003	Homozygous Familial Hypercholesterolemia	49
1197		WRN003	Wernicke Encephalopathy	49
1198		HYP081	Hypolipoproteinemia	49
1199	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
1200	c	MSC042	Muscular Dystrophy-Dystroglycanopathy , Type B, 6	49
1201		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	48
1202	c	MSC035	Muscular Dystrophy-Dystroglycanopathy , Type B, 5	48
1203	P	OCL001	Ocular Albinism	48
1204		HYP017	Hypophosphatemia	48
1205	c	MSC169	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	48
1206		DWR001	Dwarfism	48
1207		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	48
1208		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	47
1209	c	SPN296	Spinocerebellar Ataxia 17	47
1210	c	HYP739	Hyperlipoproteinemia, Type Iv	47
1211		VTM033	Vitamin K Deficiency Bleeding	47
1212		PRP056	Porphyria, Acute Hepatic	47
1213	P	LCT002	Lactose Intolerance	47
1214	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	47
1215		SGW002	Segawa Syndrome, Autosomal Recessive	47
1216	c	SPN312	Spinocerebellar Ataxia 14	46
1217	P	PSD003	Pseudohypoaldosteronism	46
1218	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	46
1219		GLC106	Glucocorticoid Resistance, Generalized	46
1220	P	PLL002	Pellagra	46
1221	c	SPN311	Spinocerebellar Ataxia 13	45
1222	c	SPN100	Spinocerebellar Ataxia 27	45
1223	c	BRD011	Bardet-Biedl Syndrome 10	45
1224	c	MSC172	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	44
1225	c	TRN032	Transient Neonatal Diabetes Mellitus	44
1226	c	MSC173	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	44
1227	c	HYP734	Hypercholesterolemia, Autosomal Dominant, Type B	44
1228	c	SPN103	Spinocerebellar Ataxia 31	43
1229	c	BRD020	Bardet-Biedl Syndrome 8	43
1230	P	PNT019	Pontocerebellar Hypoplasia	43
1231		GLY081	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency	43
1232	c	HRM009	Hermansky-Pudlak Syndrome 6	43
1233		GLY031	Glycoproteinosis	43
1234	c	SPN097	Spinocerebellar Ataxia 23	43
1235	c	SPN265	Spinocerebellar Ataxia 36	43
1236	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	43
1237	c	MSC174	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	43
1238	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	42
1239	P	CNG003	Congenital Dyserythropoietic Anemia	42
1240	c	SPN305	Spinocerebellar Ataxia 11	42
1241	c	BRT050	Bartter Syndrome, Type 2, Antenatal	42
1242		SVR095	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency	42
1243	P	HYP776	Hyperparathyroidism, Neonatal Severe	42
1244	c	HYP768	Hyperlipoproteinemia, Type I	42
1245	c	PNT036	Pontocerebellar Hypoplasia, Type 6	42
1246	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	42
1247		PLY052	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	42
1248	c	ATS246	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	41
1249	c	L2H001	L-2-Hydroxyglutaric Aciduria	41
1250	c	SPN283	Spinocerebellar Ataxia 37	41
1251	c	CTR130	Cataract 9, Multiple Types	41
1252		PRX005	Peroxisomal Biogenesis Disorder	41
1253	c	SPN290	Spinocerebellar Ataxia 15	41
1254		MTC111	Mitochondrial Neurogastrointestinal Encephalomyopathy	41
1255	c	PSD117	Pseudohypoparathyroidism, Type Ic	41
1256		CNZ001	Coenzyme Q10 Deficiency Disease	41
1257		HYP236	Hyperbilirubinemia, Rotor Type	41
1258	c	SPN308	Spinocerebellar Ataxia 28	41
1259	c	MSC175	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	40
1260		CRB148	Cerebral Creatine Deficiency Syndrome 3	40
1261	c	SPN106	Spinocerebellar Ataxia 5	40
1262	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	40
1263		MCP033	Mucopolysaccharidoses	40
1264	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	40
1265		MTH074	Methionine Adenosyltransferase I/iii Deficiency	40
1266	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	40
1267	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	40
1268		DHY011	Dihydropyrimidinase Deficiency	40
1269	c	BRD018	Bardet-Biedl Syndrome 6	40
1270	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	40
1271	c	CTR098	Cataract 1, Multiple Types	40
1272	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	40
1273	c	HYP396	Hypercholesterolemia, Autosomal Recessive	40
1274	c	SPN304	Spinocerebellar Ataxia 8	39
1275		PYR016	Pyridoxine Deficiency	39
1276		MTR082	Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction	39
1277		HYP815	Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome	39
1278		HYP003	Hypermethioninemia	39
1279	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	39
1280	c	HYP290	Hypobetalipoproteinemia, Familial, 2	39
1281	c	ALB024	Albinism, Ocular, Type I	39
1282	c	ATS279	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	39
1283	c	CNG413	Congenital Short Bowel Syndrome	39
1284		SLF014	Sulfite Oxidase Deficiency, Isolated	39
1285	c	BRD017	Bardet-Biedl Syndrome 5	39
1286	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	39
1287	c	HRM011	Hermansky-Pudlak Syndrome 8	39
1288	c	PNT010	Pontocerebellar Hypoplasia Type 1	39
1289	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	39
1290	c	MSC171	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	39
1291	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	38
1292	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	38
1293	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	38
1294		BTR002	Beta-Ureidopropionase Deficiency	38
1295	c	ATS331	Autosomal Recessive Limb-Girdle Muscular Dystrophy	38
1296	c	MSC103	Muscular Dystrophy-Dystroglycanopathy , Type C, 4	38
1297		EPL131	Epilepsy, Pyridoxine-Dependent	38
1298	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	38
1299	c	CTR115	Cataract 16, Multiple Types	38
1300	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	38
1301	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	38
1302		ALP011	Alpha-Ketoglutarate Dehydrogenase Deficiency	38
1303	P	2HY001	2-Hydroxyglutaric Aciduria	38
1304		TRN021	Transaldolase Deficiency	38
1305	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	37
1306	c	SPN247	Spinocerebellar Ataxia Type 19/22	37
1307	c	MSC108	Muscular Dystrophy-Dystroglycanopathy , Type C, 2	37
1308	c	HRM012	Hermansky-Pudlak Syndrome 9	37
1309	c	CTR170	Cataract 30, Multiple Types	37
1310	c	SPN299	Spinocerebellar Ataxia 20	36
1311	c	MSC177	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	36
1312	c	SPN094	Spinocerebellar Ataxia 18	36
1313	c	ATS277	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	36
1314	c	HRM007	Hermansky-Pudlak Syndrome 4	36
1315	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	36
1316	c	MSC178	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	36
1317	P	ANT061	Antenatal Bartter Syndrome	35
1318	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	35
1319		NCT003	N-Acetylglutamate Synthase Deficiency	35
1320	c	BLC011	Bile Acid Synthesis Defect, Congenital, 3	35
1321	c	MSC100	Muscular Dystrophy-Dystroglycanopathy , Type C, 9	35
1322	c	ATS297	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	35
1323	P	SCH017	Schindler Disease	35
1324		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	35
1325	c	ATS280	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	35
1326	P	HYP111	Hyperprolinemia	35
1327		KSH001	Keshan Disease	35
1328	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	35
1329	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	35
1330		KNZ001	Kanzaki Disease	34
1331	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	34
1332		DSM002	Desmosterolosis	34
1333	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	34
1334	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	34
1335	c	BRT056	Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness	34
1336	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	34
1337	c	SPN266	Spinocerebellar Ataxia 35	34
1338	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
1339	c	SPN101	Spinocerebellar Ataxia 29	34
1340	c	HRM010	Hermansky-Pudlak Syndrome 7	34
1341	c	CTR141	Cataract 21, Multiple Types	33
1342	c	ATS217	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	33
1343		PPC001	Pepck 1 Deficiency	33
1344	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	33
1345	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	33
1346	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	33
1347	c	CTR118	Cataract 14, Multiple Types	33
1348	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	33
1349	c	PSD104	Pseudohypoparathyroidism, Type Ii	33
1350	c	CTR122	Cataract 5, Multiple Types	33
1351	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	33
1352	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	33
1353	c	ATS298	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	33
1354	c	PSD090	Pseudohypoaldosteronism, Type Iia	33
1355	c	CRD181	Ceroid Lipofuscinosis, Neuronal, 8	32
1356	c	ATS330	Autosomal Dominant Limb-Girdle Muscular Dystrophy	32
1357	c	SPN105	Spinocerebellar Ataxia 4	32
1358	c	MSC093	Muscular Dystrophy-Dystroglycanopathy , Type C, 3	32
1359	c	BRT052	Bartter Syndrome, Type 1, Antenatal	32
1360	c	SPN095	Spinocerebellar Ataxia 19	32
1361	c	CTR103	Cataract 4, Multiple Types	32
1362	c	SPN383	Spinocerebellar Ataxia 42	32
1363	c	CTR145	Cataract 44	32
1364		MTC008	Mitochondrial Complex Iii Deficiency	32
1365	c	PNT043	Pontocerebellar Hypoplasia, Type 4	32
1366	c	PNT037	Pontocerebellar Hypoplasia, Type 3	32
1367	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	32
1368	c	SPN284	Spinocerebellar Ataxia 38	32
1369	P	PRK101	Parkinsonism-Dystonia, Infantile, 1	32
1370	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	32
1371	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	32
1372	c	SPN096	Spinocerebellar Ataxia 21	32
1373	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	32
1374	c	SPN099	Spinocerebellar Ataxia 26	31
1375	c	CTR095	Cataract 8, Multiple Types	31
1376	P	ALB023	Albinism, Ocular, with Sensorineural Deafness	31
1377		PLY158	Polyglucosan Body Neuropathy, Adult Form	31
1378	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	31
1379	c	CTR158	Cataract 37	31
1380	c	HYP804	Hyperlipidemia, Combined, 1	31
1381		CMB012	Combined Oxidative Phosphorylation Deficiency 1	31
1382	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	31
1383		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	31
1384	P	CNG002	Congenital Bile Acid Synthesis Defect	31
1385		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	31
1386	c	MSC184	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	31
1387	P	FRS004	Free Sialic Acid Storage Disorders	31
1388		PHS023	Phosphoserine Aminotransferase Deficiency	31
1389	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	31
1390		PRX034	Peroxisome Disorders	30
1391	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	30
1392	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	30
1393	c	BRD019	Bardet-Biedl Syndrome 7	30
1394	c	MSC180	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	30
1395		24D001	2,4-Dienoyl-Coa Reductase Deficiency	30
1396	c	HYP716	Hypermanganesemia with Dystonia 1	30
1397	c	PNT032	Pontocerebellar Hypoplasia, Type 9	30
1398	c	SPN104	Spinocerebellar Ataxia 34	30
1399	c	CTR132	Cataract 3, Multiple Types	30
1400		GLY099	Glycogen Storage Disease Ixa1	30
1401	c	CTR125	Cataract 7	30
1402	c	PNT033	Pontocerebellar Hypoplasia, Type 10	30
1403	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	30
1404		MTH077	Methylmalonic Aciduria, Cbla Type	30
1405	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	29
1406	c	MSC058	Muscular Dystrophy, Limb-Girdle, Type 1h	29
1407	c	CTR096	Cataract 6, Multiple Types	29
1408	c	CTR102	Cataract 2, Multiple Types	29
1409		MLD010	Mild Phenylketonuria	29
1410	c	HRM020	Hermansky-Pudlak Syndrome 10	29
1411	c	MSC111	Muscular Dystrophy-Dystroglycanopathy , Type C, 7	29
1412		MTC151	Mitochondrial Complex I Deficiency, Nuclear Type 20	29
1413	c	HYP805	Hypercholesterolemia, Autosomal Dominant, 3	29
1414	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	29
1415	c	MSC176	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	29
1416	c	MSC181	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	29
1417		CRT020	Cortisone Reductase Deficiency	29
1418	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
1419	c	ATS299	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	29
1420		PNC048	Pancreatic Lipase Deficiency	28
1421	c	CTR175	Cataract 24	28
1422		LCT017	Lactate Dehydrogenase B Deficiency	28
1423	c	PNT046	Pontocerebellar Hypoplasia, Type 5	28
1424		CMB040	Combined D-2- and L-2-Hydroxyglutaric Aciduria	28
1425	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	28
1426	c	MSC048	Muscular Dystrophy-Dystroglycanopathy , Type B, 1	28
1427		MND023	Mend Syndrome	28
1428	c	CTR121	Cataract 25	28
1429	c	ANM035	Anemia, Hypochromic Microcytic, with Iron Overload 1	28
1430		HMC001	Homocarnosinosis	28
1431	c	SPN098	Spinocerebellar Ataxia 25	27
1432	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	27
1433	c	HYP248	Hyperprolinemia, Type I	27
1434	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	27
1435	c	CHR491	Charcot-Marie-Tooth Disease, Dominant Intermediate a	27
1436		VTM024	Vitamin B12-Responsive Methylmalonic Acidemia	27
1437	c	CTR174	Cataract 40	27
1438	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	27
1439		3MT022	3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia	27
1440		MTC068	Mitochondrial Complex V Deficiency, Nuclear Type 2	27
1441		CNG428	Congenital Muscular Dystrophy Without Intellectual Disability	27
1442	c	MSC101	Muscular Dystrophy-Dystroglycanopathy , Type a, 7	27
1443	c	MSC044	Muscular Dystrophy-Dystroglycanopathy , Type B, 2	27
1444		FTL068	Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency	27
1445	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	26
1446	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	26
1447	c	PNT039	Pontocerebellar Hypoplasia, Type 7	26
1448	c	CTR129	Cataract 31, Multiple Types	26
1449		GLY061	Glycogen Storage Disease 0, Muscle	26
1450	c	ATS207	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	26
1451	c	SPN372	Spinocerebellar Ataxia 43	26
1452	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	26
1453	c	PGM021	Pigmented Nodular Adrenocortical Disease, Primary, 1	26
1454	c	BRD021	Bardet-Biedl Syndrome 9	26
1455	c	MSC179	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	26
1456	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	26
1457	c	PSD093	Pseudohypoaldosteronism, Type Iid	26
1458	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	26
1459	c	MSC182	Muscular Dystrophy-Dystroglycanopathy , Type C, 15	26
1460		EPL206	Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions	26
1461	c	MSC105	Muscular Dystrophy-Dystroglycanopathy , Type a, 13	26
1462	c	CTR113	Cataract 11, Multiple Types	26
1463	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	26
1464	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	25
1465	c	PGM011	Pigmented Nodular Adrenocortical Disease, Primary, 2	25
1466	c	MSC102	Muscular Dystrophy-Dystroglycanopathy , Type a, 12	25
1467	c	PNT050	Pontocerebellar Hypoplasia, Type 11	25
1468	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	25
1469	c	MSC041	Muscular Dystrophy-Dystroglycanopathy , Type a, 6	25
1470	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	25
1471	c	MSC183	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	25
1472	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	25
1473		CNG466	Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	25
1474	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	25
1475		CMB008	Combined Oxidative Phosphorylation Deficiency	25
1476	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	25
1477	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	25
1478		PYR018	Pyruvate Dehydrogenase Phosphatase Deficiency	25
1479	c	SPN418	Spinocerebellar Ataxia 44	25
1480	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
1481	c	CHR026	Charcot-Marie-Tooth Disease Type X	24
1482	c	CTR169	Cataract 29	24
1483		GLY065	Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency	24
1484	c	SPN286	Spinocerebellar Ataxia 40	24
1485		CNZ010	Coenzyme Q10 Deficiency, Primary, 7	24
1486	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	24
1487	c	MSC097	Muscular Dystrophy-Dystroglycanopathy , Type a, 14	24
1488	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	24
1489	c	SPN421	Spinocerebellar Ataxia 47	24
1490	c	LCT011	Lactose Intolerance, Adult Type	24
1491	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	24
1492		CYS046	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type	24
1493		CMB014	Combined Oxidative Phosphorylation Deficiency 3	24
1494	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	24
1495	c	MSC046	Muscular Dystrophy-Dystroglycanopathy , Type B, 3	24
1496	c	HYP597	Hyperprolinemia, Type Ii	23
1497	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	23
1498	c	PGM022	Pigmented Nodular Adrenocortical Disease, Primary, 4	23
1499	c	SPN323	Spinocerebellar Ataxia 41	23
1500	c	CTR166	Cataract 33, Multiple Types	23
1501	c	MSC099	Muscular Dystrophy-Dystroglycanopathy , Type B, 14	23
1502	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	23
1503	c	CTR181	Cataract 18	23
1504		MTC141	Mitochondrial Complex V Deficiency, Nuclear Type 5	23
1505	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	23
1506	c	CTR116	Cataract 15, Multiple Types	23
1507	c	SPN102	Spinocerebellar Ataxia 30	23
1508	c	CTR119	Cataract 32, Multiple Types	23
1509	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	23
1510		MTC025	Mitochondrial Myopathy with Diabetes	23
1511		CMB084	Combined Oxidative Phosphorylation Deficiency 34	23
1512	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	23
1513	c	CHR622	Charcot-Marie-Tooth Disease Type 2a2	23
1514	c	CTR131	Cataract 17, Multiple Types	23
1515	c	SPN420	Spinocerebellar Ataxia 46	23
1516		MTC091	Mitochondrial Complex Iii Deficiency, Nuclear Type 2	22
1517	c	INT262	Intermediate Maple Syrup Urine Disease	22
1518	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	22
1519		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	22
1520	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	22
1521		CMB054	Combined Oxidative Phosphorylation Deficiency 23	22
1522	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	22
1523		TRH001	Trehalase Deficiency	22
1524	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	22
1525		MCR315	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	22
1526	c	HYP163	Hyperlipidemia Type 3	22
1527	c	CTR180	Cataract 22, Multiple Types	22
1528	P	HYP252	Hypochromic Microcytic Anemia with Iron Overload	22
1529	c	CTR162	Cataract 47	22
1530	c	CTR124	Cataract 10, Multiple Types	22
1531	c	CTR165	Cataract 19, Multiple Types	22
1532	c	CTR184	Cataract 39, Multiple Types	22
1533		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	22
1534		HYP279	Hypercholanemia, Familial	22
1535	c	CHR682	Chronic Bilirubin Encephalopathy	22
1536	c	SPN259	Spinocerebellar Ataxia 32	22
1537	c	SPN419	Spinocerebellar Ataxia 45	22
1538	c	ATS211	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	22
1539	c	SPN427	Spinocerebellar Ataxia 48	22
1540		CMB019	Combined Oxidative Phosphorylation Deficiency 8	21
1541	c	PRK102	Parkinsonism-Dystonia, Infantile, 2	21
1542	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	21
1543		CMB025	Combined Oxidative Phosphorylation Deficiency 10	21
1544	c	CTR105	Cataract 12, Multiple Types	21
1545		MTC037	Mitochondrial Phosphate Carrier Deficiency	21
1546		ENC050	Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities	21
1547		CRN042	Carnosinemia	21
1548	c	BLC016	Bile Acid Synthesis Defect, Congenital, 5	21
1549	c	BLC018	Bile Acid Synthesis Defect, Congenital, 6	21
1550		CMB041	Combined Oxidative Phosphorylation Deficiency 13	21
1551		CMB047	Combined Oxidative Phosphorylation Deficiency 18	21
1552		CNG426	Congenital Muscular Dystrophy with Cerebellar Involvement	21
1553		URC006	Urocanase Deficiency	21
1554		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	21
1555	c	CTR159	Cataract 35	20
1556		CMB083	Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia	20
1557	c	MSC038	Muscular Dystrophy-Dystroglycanopathy , Type B, 4	20
1558	c	CTR182	Cataract 23, Multiple Types	20
1559	c	CTR183	Cataract 38	20
1560	c	CTR163	Cataract 46, Juvenile-Onset	20
1561		VRR003	Verruciform Xanthoma of Skin	20
1562	c	CTR097	Cataract 34, Multiple Types	20
1563	c	MSC188	Muscular Dystrophy-Dystroglycanopathy , Type C, 8	20
1564	c	CTR111	Cataract 36	20
1565		CMB072	Combined Oxidative Phosphorylation Deficiency 28	20
1566	c	CTR136	Cataract 41	20
1567		CNG427	Congenital Muscular Dystrophy with Intellectual Disability	20
1568	c	MSC187	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	20
1569	c	SPN107	Spinocerebellar Ataxia 9	20
1570		TRN067	Transcobalamin I Deficiency	19
1571		LGH013	Leigh Syndrome with Cardiomyopathy	19
1572	c	MSC186	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21	19
1573		BRK013	Birk-Landau-Perez Syndrome	19
1574	c	HYP819	Hyperlipoproteinemia, Type Id	19
1575		CRD192	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4	19
1576	c	PLL014	Pellagra-Like Syndrome	19
1577	c	CTR139	Cataract 42	19
1578	c	CTR110	Cataract 26, Multiple Types	19
1579	c	TRN053	Transient Pseudohypoaldosteronism	19
1580	c	PSD068	Pseudohypoaldosteronism, Type Iic	19
1581		CRD158	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2	19
1582	P	NMN012	Niemann-Pick Disease Type C, Juvenile Neurologic Onset	18
1583	c	PSD094	Pseudohypoaldosteronism, Type Iib	18
1584	c	HRD048	Hereditary Hyperuricemia	18
1585	c	CTR157	Cataract 28	18
1586	c	CTR106	Cataract 20, Multiple Types	18
1587	c	HYP302	Hypomagnesemia 4, Renal	18
1588	c	CTR144	Cataract 43	18
1589		HYD031	Hydroxyprolinemia	18
1590	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	18
1591		CRB155	Carbonic Anhydrase Va Deficiency	18
1592	c	LMB073	Limb-Girdle Muscular Dystrophy Type 1a	18
1593	c	CTR185	Cataract 30	18
1594	c	CTR160	Cataract 45	18
1595	c	CHR147	Charcot-Marie-Tooth Disease Type 2k	18
1596	c	NMN011	Niemann-Pick Disease Type C, Adult Neurologic Onset	18
1597	c	NMN010	Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset	18
1598	c	NMN009	Niemann-Pick Disease Type C, Late Infantile Neurologic Onset	18
1599	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	17
1600		NRD004	Neurodegeneration Due to Cerebral Folate Transport Deficiency	17
1601	c	CTR178	Cataract 27	17
1602	c	PGM012	Pigmented Nodular Adrenocortical Disease, Primary, 3	17
1603		RNL111	Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia	17
1604	c	CHR139	Charcot-Marie-Tooth Disease Type 2c	17
1605		BTM003	Beta-Aminoisobutyric Aciduria	17
1606		ZNC006	Zinc, Elevated Plasma	17
1607	c	MSC189	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	17
1608		NNP016	Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy	17
1609	c	HYP831	Hyperparathyroidism, Transient Neonatal	17
1610	c	ATS332	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w	16
1611	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	16
1612	c	LMB074	Limb-Girdle Muscular Dystrophy Type 1b	16
1613	c	CHR142	Charcot-Marie-Tooth Disease Type 2f	16
1614		CRD193	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3	16
1615		HRD160	Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors	16
1616	c	CHR550	Charcot-Marie-Tooth Disease Type 2n	16
1617		VLN001	Valinemia	16
1618		PRD033	Periodic Paralysis with Later-Onset Distal Motor Neuropathy	15
1619		INT043	Intestinal Disaccharidase Deficiency	15
1620	c	CHR143	Charcot-Marie-Tooth Disease Type 2g	15
1621	c	INF047	Infantile Free Sialic Acid Storage Disease	15
1622	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	14
1623		DBS003	Dibasic Amino Aciduria I	14
1624	c	CTR128	Cataract 33	14
1625		FML315	Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia	14
1626	c	LMB030	Limb-Girdle Muscular Dystrophy Type 1c	14
1627	c	PNT052	Pontocerebellar Hypoplasia, Type 12	14
1628	c	CTR025	Cataract, Total Congenital	14
1629	c	ATS261	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B	14
1630	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	14
1631		LGH017	Leigh Syndrome with Nephrotic Syndrome	14
1632	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	14
1633	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	12
1634	c	CHR571	Charcot-Marie-Tooth Disease Type 5	12
1635	c	CHR553	Charcot-Marie-Tooth Disease Type 2q	12
1636	c	CHR551	Charcot-Marie-Tooth Disease Type 2o	11
1637	c	HYP333	Hyperlipidemia, Combined, 2	11
1638	c	ATS333	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	11
1639	c	PMP012	Pmp2-Related Charcot-Marie-Tooth Disease Type 1	11
1640	c	GRD008	Grid2-Related Spinocerebellar Ataxia	11
1641	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	10
1642	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	10
1643	c	DNJ004	Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	10
1644	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	10
1645		ERY024	Erythropoietic Uroporphyria Associated with Myeloid Malignancy	10
1646	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	9
1647		IDP068	Idiopathic Malabsorption Due to Bile Acid Synthesis Defects	9
1648	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	9
1649	c	CHR572	Charcot-Marie-Tooth Disease Type 7	8
1650	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	8
1651	c	CTR008	Cataract Congenital Autosomal Dominant	7
1652		MTC093	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form	7
1653	c	SCN046	Secondary Short Bowel Syndrome	6
1654		INF171	Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	5
1655		BLC013	Bile Acid Coa Ligase Deficiency and Defective Amidation	5
1656		WLS003	Wilson-Turner X-Linked Mental Retardation Syndrome	44
1657		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	56
1658		MHM001	Mehmo Syndrome	33
1659		ERY061	Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige	35
1660		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	47
1661	P	GLT035	Glutaric Acidemia I	47
1662		3HY010	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	26
1663	c	GLT029	Glutaric Acidemia Type Iii	18
1664		CRN295	Carnitine Palmitoyltransferase I Deficiency	54
1665		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	54
1666	P	TRC086	Trichohepatoenteric Syndrome 1	61
1667		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	57
1668	P	MNN019	Mannosidosis, Beta a, Lysosomal	47
1669		HST006	Histidinemia	45
1670	c	TRC078	Trichohepatoenteric Syndrome 2	35
1671		MTC026	Mitochondrial Myopathy with Lactic Acidosis	26
1672	P	PLY011	Polycystic Ovary Syndrome	64
1673		CRN296	Carnitine Palmitoyltransferase Ii Deficiency, Infantile	61
1674		FRC011	Fructose Intolerance, Hereditary	60
1675		GLY010	Glycine Encephalopathy	57
1676	c	PSD066	Pseudohypoparathyroidism, Type Ib	54
1677		CRN239	Carnitine Deficiency, Systemic Primary	54
1678		CHY002	Chylomicron Retention Disease	53
1679		LYS003	Lysinuric Protein Intolerance	52
1680		ARM002	Aromatic L-Amino Acid Decarboxylase Deficiency	52
1681		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	49
1682		ULN003	Ulnar-Mammary Syndrome	49
1683		GLC011	Galactose Epimerase Deficiency	48
1684		ENC055	Encephalopathy, Ethylmalonic	47
1685		ADP001	Adiposis Dolorosa	47
1686	c	MGL018	Megaloblastic Anemia 1	46
1687	c	PLY105	Polycystic Ovary Syndrome 1	43
1688		ADN022	Adenylosuccinase Deficiency	41
1689	P	MNT319	Mental Retardation, Autosomal Dominant 20	39
1690	c	MNT143	Mental Retardation, Autosomal Dominant 13	38
1691	P	HYP769	Hyperlysinemia, Type I	36
1692		INT088	Intrinsic Factor Deficiency	36
1693		FMR004	Fumarase Deficiency	35
1694	P	HYP658	Hypoplastic Amelogenesis Imperfecta	33
1695		LGH003	Leigh Syndrome, French Canadian Type	29
1696	c	MNT185	Mental Retardation, Autosomal Dominant 7	29
1697	c	MNT246	Mental Retardation, Autosomal Dominant 38	27
1698	c	MNT212	Mental Retardation, Autosomal Dominant 26	27
1699	c	MNT241	Mental Retardation, Autosomal Dominant 32	26
1700	c	MNT219	Mental Retardation, Autosomal Dominant 30	26
1701	c	MNT210	Mental Retardation, Autosomal Recessive 42	26
1702	c	MNT158	Mental Retardation, Autosomal Dominant 22	25
1703	c	MNT145	Mental Retardation, Autosomal Recessive 5	25
1704	c	MNT157	Mental Retardation, Autosomal Dominant 18	25
1705	c	MNT270	Mental Retardation, Autosomal Recessive 53	25
1706	c	MNT280	Mental Retardation, Autosomal Dominant 43	25
1707	c	MNT322	Mental Retardation, Autosomal Dominant 27	25
1708		MTC108	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	25
1709	c	MNT214	Mental Retardation, Autosomal Dominant 24	25
1710	c	MNT166	Mental Retardation, Autosomal Recessive 39	25
1711	c	MNT287	Mental Retardation, Autosomal Recessive 57	25
1712	c	MNT155	Mental Retardation, Autosomal Recessive 2	25
1713	c	MNT325	Mental Retardation, Autosomal Recessive 61	24
1714	c	MNT213	Mental Retardation, Autosomal Recessive 40	24
1715	c	MNT222	Mental Retardation, Autosomal Dominant 29	24
1716	c	MNT183	Mental Retardation, Autosomal Recessive 36	24
1717	c	MNT262	Mental Retardation, Autosomal Dominant 42	24
1718	c	MNT328	Mental Retardation, Autosomal Dominant 52	24
1719	c	MNT244	Mental Retardation, Autosomal Recessive 49	24
1720	c	MNT150	Mental Retardation, Autosomal Recessive 15	23
1721	c	MNT242	Mental Retardation, Autosomal Dominant 40	23
1722	c	MNT239	Mental Retardation, Autosomal Dominant 35	23
1723	c	MNT238	Mental Retardation, Autosomal Dominant 34	23
1724	c	MNT216	Mental Retardation, Autosomal Recessive 41	23
1725	c	MNT176	Mental Retardation, Autosomal Recessive 38	23
1726	c	MNT226	Mental Retardation, Autosomal Dominant 31	23
1727	c	MNT272	Mental Retardation, Autosomal Dominant 41	23
1728	c	MNT273	Mental Retardation, Autosomal Dominant 44	23
1729	c	MNT184	Mental Retardation, Autosomal Dominant 11	23
1730	c	MNT321	Mental Retardation, Autosomal Recessive 37	23
1731		BTN005	Biotin-Thiamine-Responsive Basal Ganglia Disease	23
1732	c	MNT186	Mental Retardation, Autosomal Dominant 10	23
1733	c	MNT282	Mental Retardation, Autosomal Recessive 55	22
1734	c	MNT324	Mental Retardation, Autosomal Dominant 49	22
1735	c	MNT221	Mental Retardation, Autosomal Recessive 44	22
1736	c	MNT211	Mental Retardation, Autosomal Dominant 23	22
1737	c	MNT179	Mental Retardation, Autosomal Dominant 21	22
1738	c	MNT245	Mental Retardation, Autosomal Dominant 36	22
1739	c	MNT177	Mental Retardation, Autosomal Recessive 27	22
1740	c	MNT181	Mental Retardation, Autosomal Recessive 35	22
1741	c	MNT236	Mental Retardation, Autosomal Dominant 39	22
1742	c	MNT323	Mental Retardation, Autosomal Dominant 48	21
1743	c	MNT227	Mental Retardation, Autosomal Recessive 46	21
1744	c	MNT285	Mental Retardation, Autosomal Recessive 58	21
1745	c	MNT240	Mental Retardation, Autosomal Dominant 33	21
1746	c	MNT234	Mental Retardation, Autosomal Recessive 48	21
1747	c	MNT220	Mental Retardation, Autosomal Recessive 45	20
1748	c	MNT286	Mental Retardation, Autosomal Dominant 45	20
1749	c	MNT329	Mental Retardation, Autosomal Dominant 53	20
1750	c	MNT337	Mental Retardation, Autosomal Dominant 58	20
1751	c	MNT279	Mental Retardation, Autosomal Dominant 47	20
1752	c	MNT330	Mental Retardation, Autosomal Dominant 54	20
1753	c	MNT154	Mental Retardation, Autosomal Recessive 14	20
1754	c	MNT327	Mental Retardation, Autosomal Dominant 51	20
1755	c	MNT162	Mental Retardation, Autosomal Recessive 24	20
1756	c	MNT275	Mental Retardation, Autosomal Recessive 60	20
1757	c	MNT215	Mental Retardation, Autosomal Recessive 43	20
1758	c	MNT336	Mental Retardation, Autosomal Recessive 64	20
1759	c	MNT339	Mental Retardation, Autosomal Recessive 66	20
1760	c	MNT225	Mental Retardation, Autosomal Recessive 47	20
1761	c	MNT326	Mental Retardation, Autosomal Dominant 50	20
1762	c	MNT332	Mental Retardation, Autosomal Dominant 56	20
1763	c	MNT172	Mental Retardation, Autosomal Recessive 25	19
1764	c	AML006	Amelogenesis Imperfecta Hypoplastic Type, Ig	19
1765	c	MNT263	Mental Retardation, Autosomal Recessive 51	19
1766	c	MNT165	Mental Retardation, Autosomal Recessive 28	19
1767	c	MNT278	Mental Retardation, Autosomal Dominant 46	19
1768	c	MNT151	Mental Retardation, Autosomal Recessive 18	19
1769	c	MNT163	Mental Retardation, Autosomal Recessive 30	19
1770	c	MNT182	Mental Retardation, Autosomal Recessive 19	19
1771	c	MNT334	Mental Retardation, Autosomal Dominant 57	19
1772	c	MNT167	Mental Retardation, Autosomal Recessive 16	18
1773	c	MNT264	Mental Retardation, Autosomal Recessive 52	18
1774	c	MNT170	Mental Retardation, Autosomal Recessive 23	18
1775	c	MNT180	Mental Retardation, Autosomal Recessive 33	18
1776	c	MNT335	Mental Retardation, Autosomal Recessive 63	18
1777	c	MNT277	Mental Retardation, Autosomal Recessive 54	18
1778	c	MNT281	Mental Retardation, Autosomal Recessive 59	18
1779	c	MNT243	Mental Retardation, Autosomal Recessive 50	18
1780	c	MNT161	Mental Retardation, Autosomal Recessive 29	18
1781	c	MNT338	Mental Retardation, Autosomal Recessive 65	18
1782	c	MNT284	Mental Retardation, Autosomal Recessive 56	17
1783	c	MNT160	Mental Retardation, Autosomal Recessive 31	16
1784	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
1785	c	ATS394	Autosomal Dominant Mental Retardation 55	9
1786		STR067	Stroke, Ischemic	84
1787	P	LVR013	Liver Disease	77
1788		LPD012	Lipoid Congenital Adrenal Hyperplasia	72
1789		SCH036	Scheie Syndrome	67
1790		LGH007	Leigh Syndrome	66
1791	P	HYP086	Hypothyroidism	66
1792		SND001	Sandhoff Disease	66
1793		CYS013	Cystinuria	65
1794	P	GLL020	Gallbladder Disease	64
1795	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	64
1796	c	CNG006	Congenital Hypothyroidism	64
1797	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	62
1798	c	MSC036	Muscular Dystrophy-Dystroglycanopathy , Type C, 5	62
1799		PRP001	Propionic Acidemia	61
1800		DBT083	Diabetes Mellitus, Permanent Neonatal	61
1801		NRM019	Neuraminidase Deficiency	61
1802	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	61
1803	c	CRD177	Ceroid Lipofuscinosis, Neuronal, 1	61
1804	P	MLG056	Malignant Hyperthermia	60
1805	P	FCS002	Fucosidosis	60
1806		LNN001	Lennox-Gastaut Syndrome	60
1807		GST037	Gastroparesis	59
1808		PYR041	Pyruvate Kinase Deficiency of Red Cells	59
1809		ORN008	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	58
1810	P	ERY058	Erythrocytosis, Familial, 1	58
1811		DBN001	Dubin-Johnson Syndrome	58
1812	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	56
1813		DBF001	D-Bifunctional Protein Deficiency	56
1814	P	PRG047	Progressive Familial Intrahepatic Cholestasis	56
1815		HYP052	Hyperkalemic Periodic Paralysis	55
1816		CNV004	Canavan Disease	55
1817	c	PTT057	Pituitary Adenoma 4, Acth-Secreting	55
1818		PPL049	Papillon-Lefevre Syndrome	55
1819		MTC027	Mitochondrial Trifunctional Protein Deficiency	55
1820		CYS010	Cystinosis	55
1821	P	BRT004	Bartter Disease	54
1822	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	54
1823	P	ACT092	Acth-Independent Macronodular Adrenal Hyperplasia	54
1824		CLC001	Calciphylaxis	53
1825	c	ACT134	Acute Liver Failure	53
1826	P	SLL003	Salla Disease	53
1827		RNL051	Renal Cysts and Diabetes Syndrome	53
1828		FML026	Familial Lipoprotein Lipase Deficiency	53
1829		HMC014	Homocysteinemia	52
1830	P	ACT010	Acth-Secreting Pituitary Adenoma	52
1831	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	52
1832	P	FML012	Familial Partial Lipodystrophy	52
1833		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	52
1834	c	HRM017	Hermansky-Pudlak Syndrome 2	52
1835		CYS036	Cystinosis, Nephropathic	51
1836		GYR004	Gyrate Atrophy of Choroid and Retina	51
1837		NPH003	Nephrocalcinosis	51
1838		SNS008	Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis	51
1839	c	ALB020	Albinism, Oculocutaneous, Type Iii	50
1840	c	LPD021	Lipodystrophy, Familial Partial, Type 3	50
1841		OCC006	Occipital Horn Syndrome	50
1842	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	50
1843	c	DWL002	Dowling-Degos Disease 1	50
1844	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	49
1845		HYP781	Hypoascorbemia	49
1846	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	49
1847	c	HYP331	Hyperphenylalaninemia, Bh4-Deficient, a	49
1848	P	NRD007	Neurodegeneration with Brain Iron Accumulation	49
1849		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	49
1850	c	ERY048	Erythrocytosis, Familial, 2	48
1851		PYC001	Pycnodysostosis	48
1852	c	INF145	Infantile Liver Failure Syndrome 1	48
1853		ALB002	Albinism	48
1854	c	EXS019	Exostoses, Multiple, Type I	48
1855	P	D2H002	D-2-Hydroxyglutaric Aciduria 1	48
1856		HPT025	Hepatic Lipase Deficiency	47
1857	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	47
1858		DYS161	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency	47
1859	P	MTH008	Methylmalonic Acidemia	47
1860		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	47
1861		ATX029	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	47
1862	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	46
1863	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	46
1864		FML036	Familial Periodic Paralysis	46
1865		CRB150	Cerebral Creatine Deficiency Syndrome 2	46
1866		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	46
1867	P	KLF001	Kleefstra Syndrome	46
1868	P	HRD001	Hereditary Multiple Exostoses	45
1869	c	CRB193	Cerebral Amyloid Angiopathy, App-Related	45
1870	c	GLL024	Gallbladder Disease 1	45
1871	P	DWL001	Dowling-Degos Disease	45
1872		DPM001	Dopamine Beta-Hydroxylase Deficiency	45
1873	c	LPD019	Lipodystrophy, Partial, Acquired	45
1874	P	PLM085	Pulmonary Hemosiderosis	45
1875	P	RNL045	Renal Tubular Acidosis, Distal	45
1876	c	RNL046	Renal Tubular Acidosis, Distal, Autosomal Dominant	44
1877	c	BRT042	Bartter Syndrome, Type 3	44
1878		GLC022	Glucose/galactose Malabsorption	44
1879		HMC041	Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity	44
1880		IMN001	Iminoglycinuria	44
1881	P	CNG436	Congenital Disorder of Deglycosylation	44
1882	c	CRD185	Ceroid Lipofuscinosis, Neuronal, 6	44
1883	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	43
1884		BRB001	Beriberi	43
1885	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	43
1886	c	CRD179	Ceroid Lipofuscinosis, Neuronal, 7	43
1887	c	LPD040	Lipodystrophy, Familial Partial, Type 1	43
1888	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	42
1889		GLY015	Glycine N-Methyltransferase Deficiency	42
1890		CYS019	Cystathioninuria	42
1891	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	42
1892	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	40
1893	P	HYP605	Hyperphenylalaninemia, Bh4-Deficient, B	39
1894		CRD170	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1	39
1895	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	39
1896		MLY001	Molybdenum Cofactor Deficiency	39
1897	c	MLG147	Malignant Hyperthermia 1	39
1898	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	39
1899	c	PSD092	Pseudohypoaldosteronism, Type Iie	39
1900	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	38
1901	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	38
1902	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	38
1903		MSC028	Muscular Dystrophy, Congenital, Megaconial Type	38
1904	c	CRD226	Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive	38
1905		HMC038	Hemochromatosis, Neonatal	38
1906		CLS040	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency	38
1907	P	HYP758	Hyperuricemic Nephropathy, Familial Juvenile, 1	38
1908		APL017	Apolipoprotein C-Ii Deficiency	38
1909	c	HYP534	Hypomagnesemia 3, Renal	37
1910	c	CRD184	Ceroid Lipofuscinosis, Neuronal, 5	37
1911		ACT209	Acatalasemia	37
1912		DCR008	Dicarboxylic Aminoaciduria	37
1913	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	37
1914	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	37
1915	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	36
1916	c	RNL047	Renal Tubular Acidosis, Distal, Autosomal Recessive	36
1917	c	LPD034	Lipodystrophy, Familial Partial, Type 4	36
1918		SCR037	Sucrase-Isomaltase Deficiency, Congenital	36
1919	c	CRD239	Ceroid Lipofuscinosis, Neuronal, 13	36
1920	c	CNT101	Central Congenital Hypothyroidism	36
1921		MTC085	Mitochondrial Complex Iii Deficiency, Nuclear Type 1	35
1922	c	ACT202	Acth-Independent Macronodular Adrenal Hyperplasia 2	35
1923	c	ALB025	Albinism, Ocular, with Late-Onset Sensorineural Deafness	35
1924	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	35
1925	P	PRR025	Perrault Syndrome	34
1926		WRN004	Wrinkly Skin Syndrome	34
1927		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	34
1928	P	HYP210	Hypomagnesemia 2, Renal	34
1929	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	33
1930		LTH002	Lathosterolosis	33
1931	c	KLF004	Kleefstra Syndrome 1	33
1932	c	SCH069	Schindler Disease, Type I	33
1933	c	PRR020	Perrault Syndrome 1	33
1934		LKN026	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	32
1935		HMM002	Haim-Munk Syndrome	32
1936	P	CTR077	Citrullinemia, Type Ii, Neonatal-Onset	31
1937		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	31
1938	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	30
1939		CKS001	Ck Syndrome	30
1940	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	30
1941	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	30
1942	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	29
1943		GLY058	Glycogen Storage Disease 0, Liver	29
1944	c	BLC009	Bile Acid Synthesis Defect, Congenital, 4	29
1945	c	EXS020	Exostoses, Multiple, Type Ii	29
1946	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	29
1947	P	BRT053	Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness	29
1948		HYP241	Hypermethioninemia Due to Adenosine Kinase Deficiency	29
1949		NST002	Nestor-Guillermo Progeria Syndrome	29
1950		SCH030	Schneckenbecken Dysplasia	29
1951		IMM080	Immunodeficiency 23	29
1952	P	ACR110	Acrodysostosis 1 with or Without Hormone Resistance	29
1953		CMB026	Combined Oxidative Phosphorylation Deficiency 12	28
1954	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
1955	c	CRD225	Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant	27
1956	c	LVR030	Liver Failure, Infantile, Transient	27
1957		DFN350	Deafness, Aminoglycoside-Induced	27
1958		CMB011	Combined Malonic and Methylmalonic Aciduria	27
1959		ISB001	Isobutyryl-Coa Dehydrogenase Deficiency	27
1960		HYD030	Hydroxykynureninuria	26
1961	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	26
1962	c	ERY065	Erythrocytosis, Familial, 7	26
1963	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
1964		5XP001	5-Oxoprolinase Deficiency	26
1965	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	26
1966	c	PRR026	Perrault Syndrome 5	26
1967		CRD231	Cardiomyopathy, Infantile Histiocytoid	26
1968		HYP629	Hyperphosphatasia-Intellectual Disability Syndrome	26
1969		GLT011	Glutamine Deficiency, Congenital	26
1970	c	LPD036	Lipodystrophy, Familial Partial, Type 6	25
1971	c	GLL027	Gallbladder Disease 4	25
1972		GBM001	Gaba Aminotransferase Deficiency	25
1973	c	LPD044	Lipodystrophy, Familial Partial, Type 7	25
1974	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	24
1975	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	24
1976		LKN010	Leukoencephalopathy with Dystonia and Motor Neuropathy	24
1977		GLY033	Glycogen Storage Disease of Heart, Lethal Congenital	24
1978	c	LPD030	Lipodystrophy, Familial Partial, Type 5	24
1979		DYS187	Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities	24
1980	c	HYP813	Hyperuricemic Nephropathy, Familial Juvenile, 2	24
1981		CYS045	Cystinosis, Adult Nonnephropathic	24
1982	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
1983	c	ACR119	Acrodysostosis 2 with or Without Hormone Resistance	24
1984		ART103	Arthrogryposis, Mental Retardation, and Seizures	24
1985	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	23
1986		OPT074	Optic Atrophy 7 with or Without Auditory Neuropathy	23
1987		GLT014	Glutathionuria	23
1988		ICH043	Ichthyosis, Spastic Quadriplegia, and Mental Retardation	22
1989	c	PRR024	Perrault Syndrome 3	22
1990	c	MLG148	Malignant Hyperthermia 2	22
1991	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	22
1992	c	MLG149	Malignant Hyperthermia 3	22
1993	c	ATP003	Atp6v0a2-Related Cutis Laxa	21
1994	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	21
1995	c	ERY067	Erythrocytosis, Familial, 8	21
1996	c	INF138	Infantile Liver Failure Syndrome 2	21
1997		HYP187	Hypertryptophanemia	21
1998	c	PRR021	Perrault Syndrome 4	21
1999		CMB042	Combined Oxidative Phosphorylation Deficiency 16	21
2000	c	BRT024	Bartter Syndrome Type 4	21
2001		HRL006	Harel-Yoon Syndrome	21
2002	c	XLN229	X-Linked Chondrodysplasia Punctata 2	21
2003	c	MLG150	Malignant Hyperthermia 4	21
2004	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	20
2005		CNZ009	Coenzyme Q10 Deficiency, Primary, 5	20
2006	c	MLG151	Malignant Hyperthermia 5	20
2007	c	HYP718	Hyperuricemic Nephropathy, Familial Juvenile, 4	20
2008		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	20
2009	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	19
2010		CPP001	Copper Deficiency, Familial Benign	19
2011	c	HYP445	Hypomagnesemia 6, Renal	19
2012	c	XLN227	X-Linked Chondrodysplasia Punctata 1	19
2013	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	19
2014	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	19
2015	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
2016	c	PRR022	Perrault Syndrome 2	18
2017	c	ERY031	Erythrocytosis, Familial, 3	18
2018	c	PRR033	Perrault Syndrome 6	18
2019	c	KLF005	Kleefstra Syndrome 2	17
2020		MTC179	Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss	17
2021	c	EXS021	Exostoses, Multiple, Type Iii	17
2022	c	CNG263	Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs	17
2023	c	DWL003	Dowling-Degos Disease 2	17
2024	c	ERY032	Erythrocytosis, Familial, 4	17
2025	c	MLG152	Malignant Hyperthermia 6	16
2026	c	ERY063	Erythrocytosis, Familial, 5	16
2027		MTC106	Mitochondrial Non-Syndromic Sensorineural Deafness	16
2028	c	DWL004	Dowling-Degos Disease 4	15
2029	c	HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	15
2030	c	CNG543	Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies	14
2031	c	DWL005	Dowling-Degos Disease 3	13
2032	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	13
2033	c	ERY064	Erythrocytosis, Familial, 6	12
2034	c	GLL025	Gallbladder Disease 2	12
2035	c	GLL026	Gallbladder Disease 3	12
2036	c	SCN047	Secondary Pulmonary Hemosiderosis	9
2037	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	9
2038	c	RNL048	Renal Tubular Acidosis, Distal, Type 3	9
2039	c	FCS008	Fucosidosis Type 1	9
2040		HYP492	Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation	6
2041		ATS077	Autosomal Dominant Optic Atrophy and Peripheral Neuropathy	5
2042	c	HYP232	Hypothyroidism Due to Iodide Transport Defect	4
2043	c	RNL049	Renal Tubular Acidosis, Distal, Type 4	4
2044		BRJ001	Borjeson-Forssman-Lehmann Syndrome	54
2045		CNN003	Conn's Syndrome	73
2046		ACR006	Aceruloplasminemia	72
2047		MND021	Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome	60
2048		ALK013	Alkaptonuria	58
2049		ACR056	Acrodermatitis Enteropathica, Zinc-Deficiency Type	53
2050	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	41
2051	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	38
2052		AMN007	Aminoacylase 1 Deficiency	36
2053		MTH079	Methylmalonic Acidemia and Homocysteinemia, Cblx Type	22
2054		BLD065	Blue Diaper Syndrome	19
2055	P	HYP607	Hypercholesterolemia, Familial	82
2056		WLS001	Wilson Disease	71
2057	P	MTC003	Metachromatic Leukodystrophy	71
2058		ABT001	Abetalipoproteinemia	67
2059	P	CRN037	Craniosynostosis	66
2060		MNK001	Menkes Disease	65
2061	P	LBR001	Leber Congenital Amaurosis	64
2062		HYP020	Hyperprolactinemia	64
2063	P	HRM001	Hermansky-Pudlak Syndrome	64
2064	c	LPD015	Lipodystrophy, Familial Partial, Type 2	61
2065		LNG073	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	60
2066		WLK001	Walker-Warburg Syndrome	60
2067		HYP190	Hypoalphalipoproteinemia, Primary	59
2068		GLB001	Gilbert Syndrome	59
2069		LBR002	Leber Hereditary Optic Neuropathy	58
2070	c	NMN013	Niemann-Pick Disease, Type a	58
2071		MVL001	Mevalonic Aciduria	57
2072	P	HYP097	Hyperekplexia	57
2073	c	MSC037	Muscular Dystrophy-Dystroglycanopathy , Type a, 4	56
2074	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	56
2075		PSD014	Pseudopseudohypoparathyroidism	56
2076	c	CHL134	Cholestasis, Benign Recurrent Intrahepatic, 1	55
2077	c	LBR014	Leber Congenital Amaurosis 4	55
2078		ALB001	Albright's Hereditary Osteodystrophy	55
2079	c	ALB009	Albinism, Oculocutaneous, Type Ia	54
2080	c	OPT053	Optic Atrophy 1	54
2081		RNL024	Renal Glucosuria	54
2082		PRN001	Purine Nucleoside Phosphorylase Deficiency	53
2083		WRN002	Wernicke-Korsakoff Syndrome	53
2084	c	ALB021	Albinism, Oculocutaneous, Type Ii	53
2085	c	CHL132	Cholestasis, Progressive Familial Intrahepatic, 1	53
2086		ARG007	Argininemia	52
2087	P	AMY084	Amyloidosis, Finnish Type	52
2088	P	HMC002	Homocystinuria	51
2089	P	FML068	Familial Hypocalciuric Hypercalcemia	50
2090		DRR016	Diarrhea 2, with Microvillus Atrophy	49
2091		SBL008	Sea-Blue Histiocyte Disease	49
2092		CRB151	Cerebral Creatine Deficiency Syndrome 1	49
2093		DRR003	Diarrhea 5, with Tufting Enteropathy, Congenital	48
2094		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	48
2095	c	CHL137	Cholestasis, Progressive Familial Intrahepatic, 3	47
2096	c	CHL136	Cholestasis, Progressive Familial Intrahepatic, 2	47
2097	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	46
2098		BRN045	Brunner Syndrome	46
2099		GLT007	Glutathione Synthetase Deficiency	46
2100	c	ALB010	Albinism, Oculocutaneous, Type Ib	45
2101		MSC077	Muscle Eye Brain Disease	45
2102	c	LBR004	Leber Congenital Amaurosis 1	44
2103	c	BLC007	Bile Acid Synthesis Defect, Congenital, 1	44
2104	c	CRN278	Craniosynostosis 1	44
2105	c	CHL118	Cholestasis, Benign Recurrent Intrahepatic, 2	44
2106		PRL019	Prolidase Deficiency	44
2107	P	PRM001	Primary Cutaneous Amyloidosis	44
2108		CRD075	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	43
2109	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	41
2110	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	40
2111		PYR037	Pyruvate Carboxylase Deficiency	40
2112	c	MSC104	Muscular Dystrophy-Dystroglycanopathy , Type C, 1	40
2113		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	40
2114	c	LBR019	Leber Congenital Amaurosis 9	40
2115		PRM237	Primary Hypomagnesemia	39
2116	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	38
2117	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	38
2118	c	LBR012	Leber Congenital Amaurosis 2	37
2119		NRP045	Neuropathy, Ataxia, and Retinitis Pigmentosa	37
2120		GCH018	Gaucher Disease, Perinatal Lethal	37
2121	c	OPT068	Optic Atrophy 3, Autosomal Dominant	35
2122	c	LBR007	Leber Congenital Amaurosis 12	35
2123	c	CHL143	Cholestasis, Progressive Familial Intrahepatic, 4	35
2124		PLV001	Pelvic Lipomatosis	35
2125	c	LBR011	Leber Congenital Amaurosis 16	34
2126		DHY010	Dihydrolipoamide Dehydrogenase Deficiency	34
2127		BJR001	Bjornstad Syndrome	34
2128		INF129	Infantile Cerebellar-Retinal Degeneration	33
2129	c	LBR005	Leber Congenital Amaurosis 10	33
2130	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	33
2131	c	LBR018	Leber Congenital Amaurosis 8	31
2132	c	LBR016	Leber Congenital Amaurosis 6	31
2133	c	LBR013	Leber Congenital Amaurosis 3	30
2134	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	30
2135	c	BLC008	Bile Acid Synthesis Defect, Congenital, 2	29
2136	c	HYP699	Hyperekplexia 1	29
2137		DFN270	Deafness, Dystonia, and Cerebral Hypomyelination	29
2138	c	CRN277	Craniosynostosis 2	28
2139		HYP827	Hypomagnesemia 5, Renal, with or Without Ocular Involvement	28
2140	c	LBR015	Leber Congenital Amaurosis 5	27
2141	c	LBR009	Leber Congenital Amaurosis 14	27
2142	c	CRN281	Craniosynostosis 7	26
2143		MYP017	Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay	26
2144		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	26
2145	c	CRN217	Craniosynostosis 3	25
2146		CNZ008	Coenzyme Q10 Deficiency, Primary, 6	25
2147	c	ATS069	Autosomal Dominant Optic Atrophy Plus Syndrome	25
2148	c	LBR008	Leber Congenital Amaurosis 13	24
2149	c	OPT064	Optic Atrophy 11	24
2150	c	FML249	Familial Amyloidosis, Finnish Type	24
2151	c	OPT065	Optic Atrophy 9	24
2152	c	OPT024	Optic Atrophy 5	23
2153	c	LBR010	Leber Congenital Amaurosis 15	23
2154	c	CRN221	Craniosynostosis 4	23
2155	c	CRN216	Craniosynostosis 5	23
2156	c	OPT023	Optic Atrophy 2	22
2157	c	OPT025	Optic Atrophy 6	22
2158	c	LBR029	Leber Congenital Amaurosis 17	22
2159	c	CRN256	Craniosynostosis 6	21
2160	P	PRM016	Primary Optic Atrophy	21
2161	c	OPT060	Optic Atrophy 8	20
2162		GRW003	Growth Hormone Insensitivity with Immunodeficiency	20
2163	c	HYP510	Hyperekplexia 2	20
2164	c	LBR006	Leber Congenital Amaurosis 11	19
2165	c	HYP825	Hyperekplexia 4	19
2166	c	LBR017	Leber Congenital Amaurosis 7	19
2167	c	HYP519	Hyperekplexia 3	18
2168	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	16
2169	c	OPT059	Optic Atrophy 4	16
2170	c	SPR097	Sporadic Hyperekplexia	13
2171	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	9
2172	c	CRN093	Craniosynostosis Autosomal Dominant	6
2173	c	HMC018	Homocystinuria Due to Defect in Methylation Cbl G	3
2174	c	HMC017	Homocystinuria Due to Defect in Methylation Cbl E	3
2175	P	HYP802	Hypocalcemia, Autosomal Dominant 1	66
2176	P	PRP003	Porphyria Cutanea Tarda	67
2177		CHD001	Chediak-Higashi Syndrome	67
2178	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
2179		LPD016	Lipoid Proteinosis of Urbach and Wiethe	67
2180	P	SPN046	Spinal Muscular Atrophy	65
2181	P	MPL001	Maple Syrup Urine Disease	64
2182		KRN002	Kearns-Sayre Syndrome	63
2183		MYC079	Myoclonic Epilepsy of Lafora	60
2184	P	CRG003	Crigler-Najjar Syndrome, Type I	60
2185	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	59
2186	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	57
2187		FNC009	Fanconi-Bickel Syndrome	54
2188	c	SPN393	Spinal Muscular Atrophy, Type I	53
2189	P	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	52
2190	P	SJG002	Sjogren-Larsson Syndrome	52
2191		ATR002	Atransferrinemia	51
2192		AMY082	Amyloidosis, Familial Visceral	47
2193	c	SPN394	Spinal Muscular Atrophy, Type Iii	47
2194	c	SPN395	Spinal Muscular Atrophy, Type Ii	46
2195	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	42
2196	c	JVN006	Juvenile Spinal Muscular Atrophy	40
2197	c	CRB174	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	39
2198	c	SPN398	Spinal Muscular Atrophy, Type Iv	36
2199	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	35
2200	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	34
2201	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	34
2202	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	33
2203		TMT002	Temtamy Preaxial Brachydactyly Syndrome	31
2204	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	26
2205	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	26
2206	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	24
2207	c	SJG003	Sjogren-Larsson-Like Syndrome	6
2208	c	CNG061	Congenital Benign Spinal Muscular Atrophy Dominant	5
2209		VSC044	Visceral Myopathy	52
2210	c	TYR012	Tyrosinemia, Type I	56
2211		ARM001	Aromatase Deficiency	52
2212	c	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	47
2213	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	39
2214	c	CRB176	Cerebral Amyloid Angiopathy, Itm2b-Related, 1	38
2215	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	36
2216	P	XLN110	X-Linked Charcot-Marie-Tooth Disease	36
2217	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	28
2218	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	24
2219		KRT002	Keratomalacia	51
2220		CYS040	Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation	21