Metabolic Diseases Category (2150 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	78
2	c	BDY007	Body Mass Index Quantitative Trait Locus 1	47
3	c	BDY013	Body Mass Index Quantitative Trait Locus 5	12
4	c	BDY009	Body Mass Index Quantitative Trait Locus 3	11
5	c	BDY008	Body Mass Index Quantitative Trait Locus 2	11
6	c	BDY014	Body Mass Index Quantitative Trait Locus 6	11
7	c	BDY016	Body Mass Index Quantitative Trait Locus 13	10
8	c	BDY018	Body Mass Index Quantitative Trait Locus 15	10
9		ABD017	Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	45
10	c	INH020	Inherited Metabolic Disorder	53
11	P	ABD014	Abdominal Obesity-Metabolic Syndrome 1	62
12		CRB025	Carbohydrate Metabolic Disorder	42
13		TNG012	Tango2-Related Metabolic Encephalopathy and Arrhythmias	14
14		NTR005	Nutritional Deficiency Disease	58
15		LPD008	Lipid Metabolism Disorder	64
16		LPT006	Leptin Receptor Deficiency	43
17		MMS001	Momo Syndrome	30
18	c	ABD013	Abdominal Obesity-Metabolic Syndrome 3	27
19	P	DRG021	Drug Metabolism, Poor, Cyp2c19-Related	27
20		INT273	Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity	13
21		AMN002	Amino Acid Metabolic Disorder	42
22		MNT318	Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome	26
23		LPT014	Leptin Deficiency or Dysfunction	40
24		OBS081	Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair	37
25		HYD021	Hydrocephalus Obesity Hypogonadism	17
26		CHN016	Cohen Syndrome	54
27	P	THP004	Thiopurines, Poor Metabolism of, 1	41
28	P	SRF003	Surfactant Metabolism Dysfunction, Pulmonary, 2	33
29		CNG376	Congenital Leptin Deficiency	29
30	c	BDY020	Body Mass Index Quantitative Trait Locus 19	41
31		ANR042	Aniridia - Ptosis - Intellectual Disability - Familial Obesity	16
32		XLN122	X-Linked Intellectual Disability - Short Stature - Obesity	5
33		MRB003	Morbid Obesity	61
34		URC002	Urea Cycle Disorder	49
35	c	BDY019	Body Mass Index Quantitative Trait Locus 18	42
36	c	BDY017	Body Mass Index Quantitative Trait Locus 14	41
37		PHS001	Phosphorus Metabolism Disease	37
38	c	BDY005	Body Mass Index Quantitative Trait Locus 9	33
39	c	BDY015	Body Mass Index Quantitative Trait Locus 12	32
40	c	BDY010	Body Mass Index Quantitative Trait Locus 4	31
41	c	BDY006	Body Mass Index Quantitative Trait Locus 8	31
42	c	BDY012	Body Mass Index Quantitative Trait Locus 7	31
43		INB001	Inborn Amino Acid Metabolism Disorder	8
44	c	SRF004	Surfactant Metabolism Dysfunction, Pulmonary, 1	31
45	c	SRF005	Surfactant Metabolism Dysfunction, Pulmonary, 3	31
46	c	SRF008	Surfactant Metabolism Dysfunction, Pulmonary, 4	28
47	c	SRF007	Surfactant Metabolism Dysfunction, Pulmonary, 5	22
48	c	THM014	Thiamine Metabolism Dysfunction Syndrome 4	22
49		MNR003	Mineral Metabolism Disease	39
50		SRF006	Surfactant Dysfunction	37
51		MTL002	Metal Metabolism Disorder	31
52		PRP098	Proprotein Convertase 1/3 Deficiency	29
53		PYR035	Pyrimidine Metabolic Disorder	26
54		THY064	Thyroid Hormone Metabolism, Abnormal	23
55		MRB006	Morbid Obesity and Spermatogenic Failure	20
56		IRN002	Iron Metabolism Disease	60
57		GLC008	Glucose Metabolism Disease	48
58		CHP002	Chops Syndrome	33
59		RPD006	Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	27
60		OBS037	Obesity-Hypoventilation Syndrome	51
61		MTB004	Metabolic Acidosis	49
62	P	THM010	Thiamine Metabolism Dysfunction Syndrome 2	46
63		ORG002	Organic Acidemia	39
64		SPS204	Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity	29
65		RHH001	Rohhad	24
66	c	THM013	Thiamine Metabolism Dysfunction Syndrome 5	23
67		HMC042	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	22
68		MTB007	Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration	52
69		MTC005	Mitochondrial Metabolism Disease	45
70		MTH021	Methylmalonic Acidemia with Homocystinuria	40
71		STR018	Steroid Inherited Metabolic Disorder	30
72		PRN024	Purine-Pyrimidine Metabolic Disorder	24
73		HST007	Histidine Metabolism Disease	23
74		CNZ007	Coenzyme Q10 Deficiency, Primary, 2	21
75	P	MCR323	Microcephaly, Short Stature, and Impaired Glucose Metabolism 1	20
76		RTN173	Retinal Dystrophy and Obesity	19
77		WLM019	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome	14
78		CLP006	Clopidogrel Resistance	45
79		KWS001	Kwashiorkor	45
80		MRS001	Marasmus	40
81	c	BDY011	Body Mass Index Quantitative Trait Locus 10	40
82		MNT259	Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies	18
83		DSR002	Disorders of Intracellular Cobalamin Metabolism	17
84		CLB031	Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	16
85		PRL046	Prolactin Deficiency with Obesity and Enlarged Testes	10
86		OVR113	Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis	5
87		CRD029	Cardiomyopathy Hypogonadism Metabolic Anomalies	3
88		3HY005	3-Hydroxyacyl-Coa Dehydrogenase Deficiency	67
89		BLR008	Bilirubin Metabolic Disorder	55
90		LYS002	Lysosomal Storage Disease	55
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	60
95	P	ACQ009	Acquired Metabolic Disease	34
96		PLS010	Plasma Protein Metabolism Disease	28
97		BRN135	Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency	24
98	c	MCR316	Microcephaly, Short Stature, and Impaired Glucose Metabolism 2	21
99		VTM003	Vitamin Metabolic Disorder	19
100	c	THP005	Thiopurines, Poor Metabolism of, 2	14
101	P	DRG022	Drug Metabolism, Altered, Cyp2c8-Related	6
102	c	DRG023	Drug Metabolism, Altered, Ces1-Related	6
103	P	CHR654	Charcot-Marie-Tooth Disease, Axonal, Type 2e	55
104	P	MGL001	Megaloblastic Anemia	54
105	c	CHR350	Charcot-Marie-Tooth Disease, Axonal, Type 2k	47
106	c	CHR646	Charcot-Marie-Tooth Disease, Axonal, Type 2b	43
107		ACT149	Acetaminophen Metabolism	41
108	c	CHR649	Charcot-Marie-Tooth Disease, Axonal, Type 2d	38
109	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	37
110	c	CHR352	Charcot-Marie-Tooth Disease, Axonal, Type 2f	35
111	c	CHR351	Charcot-Marie-Tooth Disease, Axonal, Type 2n	34
112	c	CHR547	Charcot-Marie-Tooth Disease, Axonal, Type 2u	33
113	c	CHR608	Charcot-Marie-Tooth Disease, Axonal, Type 2p	32
114	c	CHR542	Charcot-Marie-Tooth Disease, Axonal, Type 2t	32
115	c	CHR626	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	32
116	c	CHR657	Charcot-Marie-Tooth Disease, Axonal, Type 2j	30
117	c	CHR660	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a	30
118	c	CHR650	Charcot-Marie-Tooth Disease, Axonal, Type 2b1	30
119	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	30
120	c	CHR544	Charcot-Marie-Tooth Disease, Axonal, Type 2w	30
121	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	30
122	c	CHR671	Charcot-Marie-Tooth Disease, Axonal, Type 2r	29
123	c	CHR651	Charcot-Marie-Tooth Disease, Axonal, Type 2b2	28
124	c	CHR652	Charcot-Marie-Tooth Disease, Axonal, Type 2i	28
125	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	28
126		ANT078	Antipyrine Metabolism	26
127	c	CHR617	Charcot-Marie-Tooth Disease, Axonal, Type 2z	25
128	c	CHR668	Charcot-Marie-Tooth Disease, Axonal, Type 2o	25
129	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	24
130	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	24
131		SHR102	Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures	22
132	c	CHR548	Charcot-Marie-Tooth Disease, Axonal, Type 2v	22
133	c	CHR678	Charcot-Marie-Tooth Disease, Axonal, Type 2dd	21
134	c	DRG020	Drug Metabolism, Poor, Cyp2d6-Related	20
135		ERY030	Erythrocyte Lactate Transporter Defect	18
136		INT226	Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	18
137		XLN211	X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	17
138		SHR107	Short Stature-Obesity Syndrome	17
139		ZNC006	Zinc, Elevated Plasma	17
140		INT298	Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	16
141		NTR002	Nutritional Optic Neuropathy	15
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		OBS068	Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	8
146		ANM041	Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism	8
147		CHR069	Chronic Metabolic Polyneuropathy	4
148		HYL006	Hyaluronan Metabolism, Defect in	3
149		CYS001	Cystic Fibrosis	83
150	P	PRK057	Parkinson Disease, Late-Onset	76
151	c	HMC039	Hemochromatosis, Type 1	74
152		PHN003	Phenylketonuria	73
153		ADR007	Adrenoleukodystrophy	72
154		FBR012	Fabry Disease	72
155	P	DBT085	Diabetes Mellitus, Insulin-Dependent	72
156	P	DMN001	Diamond-Blackfan Anemia	71
157	P	TYS001	Tay-Sachs Disease	70
158		SMT004	Smith-Lemli-Opitz Syndrome	69
159	P	AMY004	Amyloidosis	68
160	P	KRB001	Krabbe Disease	68
161		LWC002	Lowe Oculocerebrorenal Syndrome	67
162	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	67
163	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	66
164	c	GLY008	Glycogen Storage Disease Ii	66
165		TNG002	Tangier Disease	64
166	c	MCP050	Mucopolysaccharidosis, Type Ii	64
167	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	64
168		HYP066	Hyperglycemia	64
169	P	GCH001	Gaucher's Disease	64
170	c	LBR014	Leber Congenital Amaurosis 4	63
171		RFS006	Refsum Disease, Classic	62
172		LSC001	Lesch-Nyhan Syndrome	62
173		CRB011	Cerebrotendinous Xanthomatosis	62
174	c	NMN016	Niemann-Pick Disease, Type B	62
175	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	62
176	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	62
177	c	MCP049	Mucopolysaccharidosis, Type Vii	62
178	P	PRP029	Porphyria	61
179	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	61
180	c	GCH015	Gaucher Disease, Type I	61
181	P	NMN002	Niemann-Pick Disease	61
182		LYS012	Lysosomal Acid Lipase Deficiency	61
183		ARG002	Argininosuccinic Aciduria	61
184		ALP103	Alpha-1-Antitrypsin Deficiency	61
185	P	GLY013	Glycogen Storage Disease	60
186	c	PRT132	Protoporphyria, Erythropoietic, 1	60
187	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
188	c	MNN047	Mannosidosis, Alpha B, Lysosomal	59
189	c	PRX045	Peroxisome Biogenesis Disorder 1b	59
190	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	58
191		GLC003	Glucose Intolerance	58
192		MTC007	Mitochondrial Complex I Deficiency	57
193		PRP032	Porphyria Variegata	57
194	P	INF016	Infantile Epileptic Encephalopathy	57
195	c	ANM036	Anemia, Sideroblastic, 1	56
196		ASP002	Aspartylglucosaminuria	55
197		CPR004	Coproporphyria, Hereditary	55
198		HRL003	Hurler Syndrome	55
199		HYP060	Hyperinsulinism	55
200	P	ZLL001	Zellweger Syndrome	55
201		HYP005	Hypokalemia	55
202	P	HYP050	Hyperinsulinemic Hypoglycemia	55
203		CHN055	Chanarin-Dorfman Syndrome	55
204		MTC097	Mitochondrial Complex Iv Deficiency	54
205		MLT135	Multiple Sulfatase Deficiency	54
206		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	54
207		ART002	Arts Syndrome	54
208	c	GCH016	Gaucher Disease, Type Ii	54
209	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	54
210	P	PRM002	Primary Hyperoxaluria	53
211		ERL001	Early Myoclonic Encephalopathy	53
212	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	53
213	c	CNT075	Central Precocious Puberty	53
214		TRS021	Triosephosphate Isomerase Deficiency	52
215	P	PRC019	Precocious Puberty	52
216		GLC012	Galactosialidosis	52
217		PRT038	Protein-Energy Malnutrition	52
218		PRP082	Porphyria, Congenital Erythropoietic	52
219	P	LCT001	Lactic Acidosis	52
220		XNT003	Xanthomatosis	51
221	c	ATS393	Autosomal Recessive Cutis Laxa Type I	51
222		BRT005	Barth Syndrome	51
223		GLC009	Glucosephosphate Dehydrogenase Deficiency	51
224		NNT017	Neonatal Adrenoleukodystrophy	50
225		ORT008	Orotic Aciduria	50
226	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
227	c	PRX059	Peroxisome Biogenesis Disorder 1a	49
228	c	GCH017	Gaucher Disease, Type Iii	49
229	P	NGH001	Night Blindness	49
230	P	TYR004	Tyrosinemia	49
231	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
232		FRB001	Farber Lipogranulomatosis	49
233		HYP025	Hyperphosphatemia	49
234		CLC006	Calcinosis	48
235		PRD004	Prediabetes Syndrome	48
236		DNN001	Danon Disease	48
237	c	ALB019	Albinism, Oculocutaneous, Type Iv	48
238		OVR063	Overnutrition	48
239		VTM002	Vitamin B12 Deficiency	48
240		TRN022	Transcobalamin Ii Deficiency	48
241	c	CRP023	Carpenter Syndrome 1	48
242	P	HYP058	Hypervitaminosis a	48
243		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	47
244	P	NNT009	Neonatal Diabetes Mellitus	47
245		LPP002	Lipoprotein Glomerulopathy	47
246		HYP347	Hypotonia-Cystinuria Syndrome	47
247		HRT031	Hartnup Disorder	47
248	c	ACT078	Acute Porphyria	47
249	P	NLX004	Neu-Laxova Syndrome 1	46
250		MNC019	Monocarboxylate Transporter 1 Deficiency	46
251	c	HMC021	Hemochromatosis, Type 2a	46
252		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	46
253	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
254	P	LPM005	Lipomatosis	46
255		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	46
256	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	46
257		VTM001	Vitamin K Deficiency Hemorrhagic Disease	46
258	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	45
259		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	45
260		RBF001	Riboflavin Deficiency	45
261		MHR001	Mohr-Tranebjaerg Syndrome	45
262	c	3MT015	3-Methylglutaconic Aciduria, Type I	45
263		DBT090	Diabetes and Deafness, Maternally Inherited	45
264		PRX001	Peroxisomal Disease	45
265	c	GLY023	Glycogen Storage Disease Type 0	45
266	P	MNN018	Mannosidosis	45
267	P	MYG005	Myoglobinuria	45
268	P	TRM004	Trimethylaminuria	44
269	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	44
270		PRS127	Pearson Marrow-Pancreas Syndrome	44
271	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	44
272		PHS021	Phosphoglycerate Dehydrogenase Deficiency	44
273		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	43
274	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	43
275	c	TYR011	Tyrosinemia, Type Iii	43
276	c	ALB015	Albinism, Oculocutaneous, Type V	42
277	P	MTC004	Mitochondrial Encephalomyopathy	42
278		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	42
279	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	42
280	P	JVN024	Juvenile Hereditary Hemochromatosis	42
281		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	42
282	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	42
283	P	XNT004	Xanthinuria	42
284	c	3MT014	3-Methylglutaconic Aciduria, Type V	42
285	c	GLY098	Glycogen Storage Disease, Type Ixd	42
286	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	41
287	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	41
288	c	CTR130	Cataract 9, Multiple Types	41
289	P	CNG003	Congenital Dyserythropoietic Anemia	41
290	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
291	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	41
292	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	41
293	c	ALB016	Albinism, Oculocutaneous, Type Vii	40
294	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	40
295	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
296		BTN004	Biotin Deficiency	40
297	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
298	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	40
299	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	40
300	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	40
301	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	40
302		END028	Endemic Goiter	40
303	c	HYP057	Hypervitaminosis D	40
304	c	ERL056	Early-Onset Parkinson's Disease	40
305	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	40
306		NNK001	Nonaka Myopathy	40
307	P	GNG010	Gangliosidosis Gm2	40
308		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	40
309	c	MYC068	Myoclonic Epilepsy of Infancy	39
310	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	39
311	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	39
312	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	39
313		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	39
314		HYP550	Hypomagnesemia 1, Intestinal	39
315	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	39
316		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	39
317	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	39
318	c	CTR118	Cataract 14, Multiple Types	39
319	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	39
320		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	39
321	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	39
322		HRL004	Hurler-Scheie Syndrome	38
323		ARB001	Ariboflavinosis	38
324	c	CTR115	Cataract 16, Multiple Types	38
325	c	MCL016	Mucolipidosis Iii Gamma	38
326	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	38
327	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	38
328		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	38
329	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	38
330	c	MCP051	Mucopolysaccharidosis, Type Ix	38
331	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	38
332		CLS049	Classic Phenylketonuria	38
333	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	37
334	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
335	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	37
336	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	37
337	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	37
338	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	37
339	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	37
340		GLY032	Glycosylphosphatidylinositol Deficiency	37
341	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	37
342	c	CTR170	Cataract 30, Multiple Types	37
343	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	37
344		CHL045	Choline Deficiency Disease	37
345	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
346		SLT014	Salt and Pepper Developmental Regression Syndrome	37
347	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	37
348	c	CTR098	Cataract 1, Multiple Types	37
349		CHR387	Chromosome Xp21 Deletion Syndrome	37
350		NTR007	Neutral Lipid Storage Disease with Myopathy	36
351	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	36
352	c	CNG188	Congenital Disorder of Glycosylation, Type if	36
353	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	36
354	P	SPS008	Spastic Ataxia	36
355		SNG007	Sengers Syndrome	36
356	c	PRK025	Parkinson Disease 10	36
357		INF159	Infantile Sialic Acid Storage Disease	36
358		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	36
359		FLT009	Folate Malabsorption, Hereditary	36
360	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	35
361	c	LBR007	Leber Congenital Amaurosis 12	35
362		CHL050	Cholesterol Ester Storage Disease	35
363	c	CTR122	Cataract 5, Multiple Types	35
364	c	CNG379	Congenital Disorder of Glycosylation, Type It	35
365	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	35
366	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	35
367	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	35
368		LGH012	Leigh Syndrome with Leukodystrophy	35
369	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	35
370	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	35
371	c	HRD173	Hereditary Late-Onset Parkinson Disease	35
372	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	35
373	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	34
374	c	CTR174	Cataract 40	34
375	P	3MT007	3-Methylglutaconic Aciduria	34
376	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	34
377	c	HRD142	Hereditary Xanthinuria	34
378	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	34
379	c	LBR011	Leber Congenital Amaurosis 16	34
380	c	CTR103	Cataract 4, Multiple Types	34
381	c	CTR141	Cataract 21, Multiple Types	34
382		INC022	Inclusion-Cell Disease	34
383	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	34
384	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
385	c	CNG195	Congenital Disorder of Glycosylation, Type Id	33
386	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	33
387		KLL014	Kelley-Seegmiller Syndrome	33
388	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	33
389		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	33
390	c	PRP091	Porphyria Cutanea Tarda, Type I	33
391		GBT001	Gaba-Transaminase Deficiency	33
392		CTN011	Cutaneous Porphyria	33
393	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	33
394	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
395	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	33
396		HSD004	Hsd10 Mitochondrial Disease	33
397		PLY010	Polyclonal Hypergammaglobulinemia	33
398		PHS022	Phosphoserine Phosphatase Deficiency	33
399	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
400	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	33
401	c	CTR125	Cataract 7	33
402	c	ZLL011	Zellweger Spectrum Disorder	33
403	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	33
404		MTC029	Mitochondrial Complex V Deficiency, Nuclear Type 1	32
405		CMB020	Combined Saposin Deficiency	32
406		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	32
407	c	CTR145	Cataract 44	32
408	c	DMN021	Diamond-Blackfan Anemia 6	32
409		SRC015	Sarcosinemia	32
410	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	32
411	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	32
412	c	CNG199	Congenital Disorder of Glycosylation, Type Im	31
413	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
414	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	31
415		FLC001	Folic Acid Deficiency Anemia	31
416	c	CTS031	Cutis Laxa, Autosomal Dominant 2	31
417	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	31
418	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	31
419	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	31
420	c	ACQ027	Acquired Cutis Laxa	31
421	c	CTR158	Cataract 37	31
422		MNC004	Monoclonal Paraproteinemia	31
423		RBS005	Ribose 5-Phosphate Isomerase Deficiency	31
424	c	LBR013	Leber Congenital Amaurosis 3	30
425	c	GLY057	Glycogen Storage Disease X	30
426	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	30
427		PCD001	Pica Disease	30
428		GLT005	Glutamate Formiminotransferase Deficiency	30
429	P	SPS012	Spastic Paraplegia 3a	30
430	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	30
431	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	30
432	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	30
433	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	30
434	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	30
435	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	30
436		PYR021	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	30
437		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	30
438	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	30
439	c	PRX056	Peroxisome Biogenesis Disorder 11b	29
440	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	29
441	c	MTC116	Mitochondrial Myopathy, Infantile, Transient	29
442		MYP097	Myopathy with Lactic Acidosis, Hereditary	29
443	c	HRD186	Hereditary Spastic Paraplegia 51	29
444	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
445	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	29
446	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
447	c	MTC074	Metachromatic Leukodystrophy, Adult Form	29
448	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	29
449	c	TYP035	Type 1 Diabetes Mellitus 11	29
450	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	29
451	c	GLY017	Glycogen Storage Disease Ic	29
452	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	29
453	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	29
454	c	NPH102	Nephrotic Syndrome, Type 14	29
455	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	29
456	c	CTR175	Cataract 24	29
457	c	PRX060	Peroxisome Biogenesis Disorder 5a	29
458	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	29
459	c	TYP037	Type 1 Diabetes Mellitus 13	29
460	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	28
461	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	28
462	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	28
463	c	TYP032	Type 1 Diabetes Mellitus 6	28
464	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	28
465	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	28
466	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
467	c	CTR121	Cataract 25	28
468	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
469	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	28
470	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	28
471	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	28
472	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
473		GLY078	Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency	28
474		MLD011	Mild Hyperphenylalaninemia	28
475	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
476		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	28
477	c	BRW009	Brown-Vialetto-Van Laere Syndrome 1	28
478		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	28
479		PHS014	Phosphoglycerate Kinase 1 Deficiency	28
480		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	28
481	c	DBT054	Diabetes Mellitus, Insulin-Dependent, 24	28
482	c	PRX054	Peroxisome Biogenesis Disorder 12a	27
483		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	27
484	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	27
485	c	LBR009	Leber Congenital Amaurosis 14	27
486	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	27
487		CRT011	Carotenemia	27
488	c	PNT039	Pontocerebellar Hypoplasia, Type 7	27
489	c	TYP033	Type 1 Diabetes Mellitus 7	27
490	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	27
491		ACD011	Acid Phosphatase Deficiency	27
492	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	27
493	c	CTR124	Cataract 10, Multiple Types	27
494	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
495		LKT001	Leukotriene C4 Synthase Deficiency	27
496	P	EPL198	Epilepsy, Myoclonic Juvenile	27
497	c	PRX050	Peroxisome Biogenesis Disorder 9b	27
498	c	CRP022	Carpenter Syndrome 2	27
499	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	27
500	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	27
501	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	27
502	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	27
503		CMB017	Combined Oxidative Phosphorylation Deficiency 6	27
504	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	27
505		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	27
506	c	INF122	Infantile Krabbe Disease	27
507	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	27
508		PRT094	Protoporphyria, Erythropoietic, X-Linked	27
509	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
510	c	PRR026	Perrault Syndrome 5	26
511	c	DBT093	Diabetes Mellitus, Noninsulin-Dependent, 1	26
512		MCL022	Mucolipidoses	26
513	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	26
514		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	26
515	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	26
516		DMT001	Dimethylglycine Dehydrogenase Deficiency	26
517	c	ALB017	Albinism, Oculocutaneous, Type Vi	26
518	c	TYP028	Type 1 Diabetes Mellitus 2	26
519	c	EPL210	Epilepsy, Progressive Myoclonic, 6	26
520		CNZ006	Coenzyme Q10 Deficiency, Primary, 1	26
521	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	26
522	c	CTR166	Cataract 33, Multiple Types	26
523		MTC030	Mitochondrial Complex V Deficiency, Nuclear Type 3	26
524	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
525		GLT028	Glutaric Aciduria Iii	26
526	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	26
527	c	DMN017	Diamond-Blackfan Anemia 10	25
528	c	SPN418	Spinocerebellar Ataxia 44	25
529	c	PRX043	Peroxisome Biogenesis Disorder 6b	25
530	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	25
531	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	25
532	c	TYP036	Type 1 Diabetes Mellitus 12	25
533	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	25
534	c	GLY001	Glycogen Storage Disease Ix	25
535	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	25
536	c	DMN022	Diamond-Blackfan Anemia 9	25
537	c	PRK093	Parkinson Disease 8, Autosomal Dominant	25
538	c	PRC047	Precocious Puberty, Central, 1	25
539	c	PRX048	Peroxisome Biogenesis Disorder 10a	25
540	c	PRX046	Peroxisome Biogenesis Disorder 7a	25
541	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	25
542	c	PRX091	Peroxisome Biogenesis Disorder 8a	25
543	c	SPN259	Spinocerebellar Ataxia 32	25
544		SZR018	Seizures, Scoliosis, and Macrocephaly Syndrome	25
545	c	TYP031	Type 1 Diabetes Mellitus 5	25
546	c	PRX057	Peroxisome Biogenesis Disorder 4a	25
547	c	SPN421	Spinocerebellar Ataxia 47	25
548	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	25
549	c	HRM020	Hermansky-Pudlak Syndrome 10	25
550	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	25
551		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	25
552	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	25
553	c	EPL155	Epilepsy, Progressive Myoclonic, 8	25
554		LYS024	Lysosomal and Lipase Deficiency	25
555	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	24
556	c	PRX065	Peroxisome Biogenesis Disorder 3a	24
557	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	24
558	c	EPL154	Epilepsy, Progressive Myoclonic, 9	24
559	c	TYP027	Type 1 Diabetes Mellitus 10	24
560	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	24
561	c	PRX051	Peroxisome Biogenesis Disorder 6a	24
562	c	SPN323	Spinocerebellar Ataxia 41	24
563	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	24
564	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
565		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	24
566	c	PRK094	Parkinson Disease 11, Autosomal Dominant	24
567		LCT013	Lactase Deficiency, Congenital	24
568		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	24
569		CMB046	Combined Oxidative Phosphorylation Deficiency 11	24
570	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	24
571	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	24
572		SDH011	Sedoheptulokinase Deficiency	24
573	c	EPL134	Epilepsy, Progressive Myoclonic 7	24
574	c	PRX052	Peroxisome Biogenesis Disorder 13a	24
575	c	PRX058	Peroxisome Biogenesis Disorder 4b	24
576	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	24
577	c	DMN019	Diamond-Blackfan Anemia 4	24
578		3HY011	3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	24
579	c	TYP038	Type 1 Diabetes Mellitus 15	24
580		CMB064	Combined Oxidative Phosphorylation Deficiency 24	24
581	c	PRK052	Parkinson Disease 17	24
582		MTH013	Methylmalonate Semialdehyde Dehydrogenase Deficiency	24
583	c	BRW008	Brown-Vialetto-Van Laere Syndrome 2	24
584	c	PRX062	Peroxisome Biogenesis Disorder 8b	24
585	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	23
586	c	EPL188	Epilepsy, Progressive Myoclonic, 10	23
587	c	HMC019	Hemochromatosis, Type 2b	23
588		SWY001	Swayback	23
589	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	23
590	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	23
591	c	DMN024	Diamond-Blackfan Anemia 7	23
592	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	23
593		MRC009	Mercaptolactate-Cysteine Disulfiduria	23
594		HYP719	Hyperglycinemia, Lactic Acidosis, and Seizures	23
595	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	23
596	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	23
597	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	23
598	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	23
599	c	DMN018	Diamond-Blackfan Anemia 5	23
600		GCH010	Gaucher Disease, Atypical, Due to Saposin C Deficiency	23
601	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	23
602	c	CTR180	Cataract 22, Multiple Types	23
603	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	23
604		PYR025	Pyruvate Dehydrogenase E2 Deficiency	23
605	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	23
606	c	LBR010	Leber Congenital Amaurosis 15	23
607	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	23
608	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	23
609	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	23
610	c	ATS210	Autosomal Recessive Sideroblastic Anemia	23
611	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	23
612		CMB045	Combined Oxidative Phosphorylation Deficiency 19	23
613	c	CTR131	Cataract 17, Multiple Types	23
614	c	PRK099	Parkinson Disease 18, Autosomal Dominant	23
615	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	23
616	c	PRX047	Peroxisome Biogenesis Disorder 5b	23
617	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	23
618	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	23
619	c	PRK070	Parkinson Disease 21	23
620	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	23
621	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	23
622	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	23
623	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	22
624	c	JVN058	Juvenile-Onset Parkinson's Disease	22
625		HYP690	Hyper-Beta-Alaninemia	22
626	c	SPN419	Spinocerebellar Ataxia 45	22
627		LPY002	Lipoyltransferase 1 Deficiency	22
628	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	22
629		CMB018	Combined Oxidative Phosphorylation Deficiency 7	22
630	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	22
631	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	22
632	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	22
633	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	22
634	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	22
635	c	NLX003	Neu-Laxova Syndrome 2	22
636	c	DMN029	Diamond-Blackfan Anemia 11	22
637	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	22
638	c	HYP713	Hypermanganesemia with Dystonia 2	22
639	c	CTR165	Cataract 19, Multiple Types	22
640	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	22
641	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	22
642	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	22
643	c	CTR184	Cataract 39, Multiple Types	22
644	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	22
645		MYP149	Myopathy, Mitochondrial, and Ataxia	22
646	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	22
647	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	22
648		CMB015	Combined Oxidative Phosphorylation Deficiency 4	22
649	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	22
650	c	PRX066	Peroxisome Biogenesis Disorder 3b	22
651	c	LBR029	Leber Congenital Amaurosis 17	22
652	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	22
653	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	22
654		CMB013	Combined Oxidative Phosphorylation Deficiency 2	22
655	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	22
656		MYP099	Myopathy, Isolated Mitochondrial, Autosomal Dominant	22
657	P	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	22
658		MTC137	Mitochondrial Complex V Deficiency, Nuclear Type 4	22
659		CMB049	Combined Oxidative Phosphorylation Deficiency 17	22
660	c	CTR116	Cataract 15, Multiple Types	22
661		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	22
662		CMB065	Combined Oxidative Phosphorylation Deficiency 26	22
663	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	21
664	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	21
665		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	21
666	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	21
667		HMC036	Homocystinuria Without Methylmalonic Aciduria	21
668		SRN001	Serine Deficiency	21
669	c	CTR182	Cataract 23, Multiple Types	21
670	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	21
671		CNZ011	Coenzyme Q10 Deficiency, Primary, 8	21
672	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	21
673	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	21
674	c	TYP039	Type 1 Diabetes Mellitus 17	21
675	c	DMN020	Diamond-Blackfan Anemia 8	21
676	c	PRR021	Perrault Syndrome 4	21
677	c	PRX089	Peroxisome Biogenesis Disorder 10b	21
678	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	21
679		CMB044	Combined Oxidative Phosphorylation Deficiency 14	21
680	c	CTR105	Cataract 12, Multiple Types	21
681		MTC087	Mitochondrial Complex Iii Deficiency, Nuclear Type 4	21
682		CMB043	Combined Oxidative Phosphorylation Deficiency 9	21
683		CMB016	Combined Oxidative Phosphorylation Deficiency 5	21
684		ISL116	Isolated Complex Iii Deficiency	21
685		SPS190	Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly	21
686	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	21
687		MLT150	Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia	21
688		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	21
689	c	CTR163	Cataract 46, Juvenile-Onset	21
690	c	CTR159	Cataract 35	21
691	P	PRX064	Peroxisome Biogenesis Disorder 2b	21
692	c	HYP510	Hyperekplexia 2	21
693	c	HYP564	Hypocalcemia, Autosomal Dominant 2	20
694	c	ANM034	Anemia, Sideroblastic, 4	20
695		MTH040	Methylmalonyl-Coa Epimerase Deficiency	20
696	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	20
697	c	DMN028	Diamond-Blackfan Anemia 12	20
698	c	CTR183	Cataract 38	20
699	c	CTR097	Cataract 34, Multiple Types	20
700		PHS029	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	20
701	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	20
702	c	HYP819	Hyperlipoproteinemia, Type Id	20
703	c	DMN039	Diamond-Blackfan Anemia 17	20
704	c	PRX068	Peroxisome Biogenesis Disorder 7b	20
705	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	20
706	c	CTR111	Cataract 36	20
707		CMB077	Combined Oxidative Phosphorylation Deficiency 30	20
708	c	CTR136	Cataract 41	20
709		MTR058	Maternally-Inherited Progressive External Ophthalmoplegia	20
710	c	CTR178	Cataract 27	20
711	c	MLT167	Multiple Mitochondrial Dysfunctions Syndrome 6	20
712	c	TYP040	Type 1 Diabetes Mellitus 18	20
713	c	PRM150	Primary Localized Amyloidosis	20
714		ISL082	Isolated Atp Synthase Deficiency	20
715	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	20
716		CMB048	Combined Oxidative Phosphorylation Deficiency 15	20
717		CMB082	Combined Oxidative Phosphorylation Deficiency 33	20
718		PLY114	Polyglucosan Body Myopathy 2	20
719	c	HYP825	Hyperekplexia 4	20
720		CRT066	Cortisone Reductase Deficiency 2	20
721		MTC095	Mitochondrial Complex Iii Deficiency, Nuclear Type 7	20
722	c	PRC046	Precocious Puberty, Central, 2	20
723	c	DBT094	Diabetes Mellitus, Insulin-Dependent, 10	20
724	c	TYP034	Type 1 Diabetes Mellitus 8	20
725		GLY094	Glycine Encephalopathy with Normal Serum Glycine	19
726	c	XLN227	X-Linked Chondrodysplasia Punctata 1	19
727		CMB071	Combined Oxidative Phosphorylation Deficiency 27	19
728		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	19
729		CRT065	Cortisone Reductase Deficiency 1	19
730	c	PRK098	Parkinson Disease 5, Autosomal Dominant	19
731		CMB051	Combined Oxidative Phosphorylation Deficiency 21	19
732	c	DMN030	Diamond-Blackfan Anemia 13	19
733	c	TYP030	Type 1 Diabetes Mellitus 4	19
734	c	DBT034	Diabetes Mellitus, Insulin-Dependent, 20	19
735	c	DMN040	Diamond-Blackfan Anemia 16	19
736		CMB076	Combined Oxidative Phosphorylation Deficiency 31	19
737	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	19
738		CMB063	Combined Oxidative Phosphorylation Deficiency 25	19
739		MTC098	Mitochondrial Complex Iii Deficiency, Nuclear Type 9	19
740	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	19
741		LPD042	Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency	19
742		CMB052	Combined Oxidative Phosphorylation Deficiency 20	19
743	c	CTR139	Cataract 42	19
744	c	PRK096	Parkinson Disease 13, Autosomal Dominant	19
745		HYP722	Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	19
746		CMB079	Combined Oxidative Phosphorylation Deficiency 29	19
747	c	SPN121	Spondylocostal Dysostosis 1	19
748	c	CTR110	Cataract 26, Multiple Types	19
749		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	19
750		MTC090	Mitochondrial Complex Iii Deficiency, Nuclear Type 6	19
751		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	18
752	c	EPL217	Epilepsy, Juvenile Myoclonic 10	18
753		MTC079	Mitochondrial Pyruvate Carrier Deficiency	18
754		PRM123	Paramyloidosis	18
755	c	HYP519	Hyperekplexia 3	18
756	c	DBT038	Diabetes Mellitus, Insulin-Dependent, 5	18
757	c	PRR022	Perrault Syndrome 2	18
758	c	HRD188	Hereditary Spastic Paraplegia 72	18
759	c	AHM002	Ah Amyloidosis	18
760	c	MYC086	Myoclonic Epilepsy, Juvenile 4	18
761	c	CTR106	Cataract 20, Multiple Types	18
762		PYR009	Pyridoxine Deficiency Anemia	18
763	c	PRK022	Parkinson Disease 12	18
764	c	PRK083	Parkinson Disease 22, Autosomal Dominant	18
765	c	CTR144	Cataract 43	18
766	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	18
767	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	18
768	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	18
769	c	CHR147	Charcot-Marie-Tooth Disease Type 2k	18
770	c	ESS007	Essential Pentosuria	18
771		CNZ004	Coenzyme Q10 Deficiency, Primary, 3	18
772	c	CTR157	Cataract 28	18
773	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	18
774	c	CTR185	Cataract 30	18
775		GLY085	Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency	18
776	c	CTR160	Cataract 45	18
777	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	18
778	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	18
779	c	PRR033	Perrault Syndrome 6	18
780		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	18
781		NMN008	Niemann-Pick Disease Type C, Severe Perinatal Form	17
782	c	DBT082	Diabetes Mellitus, Insulin-Dependent, 12	17
783	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	17
784	c	LRR001	Lrrk2-Related Parkinson Disease	17
785	c	GLY093	Glycogen Storage Disease Ixa	17
786	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	17
787	c	XLN229	X-Linked Chondrodysplasia Punctata 2	17
788	c	MYG006	Myoglobinuria, Autosomal Dominant	17
789		2MN001	2-Aminoadipic 2-Oxoadipic Aciduria	17
790	c	EPL186	Epilepsy, Juvenile Myoclonic 9	17
791	c	TYP029	Type 1 Diabetes Mellitus 3	17
792		MLT155	Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	17
793		STT003	Steatitis	17
794	c	CTR128	Cataract 33	17
795	c	DBT050	Diabetes Mellitus, Insulin-Dependent, 15	17
796	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	17
797	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	17
798		MTC115	Mitochondrial Myopathy, Lethal, Infantile	17
799		CMB085	Combined Oxidative Phosphorylation Deficiency 35	17
800	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	17
801		CRB137	Cerebral Creatine Deficiency Syndrome	17
802		ATY025	Atypical Glycine Encephalopathy	16
803		GLT036	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to	16
804	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	16
805	c	EFM001	Efemp2-Related Cutis Laxa	16
806	c	PRK058	Parkinson Disease 16	16
807	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	16
808		MTC089	Mitochondrial Complex Iii Deficiency, Nuclear Type 3	16
809	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	16
810	c	ATS186	Autosomal Recessive Spastic Paraplegia Type 68	16
811		GNT042	Genetic Recurrent Myoglobinuria	16
812		MLT154	Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type	16
813	c	DMN045	Diamond-Blackfan Anemia-Like	16
814	c	DWL004	Dowling-Degos Disease 4	16
815		GLY074	Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset	15
816	c	DBT032	Diabetes Mellitus, Insulin-Dependent, 22	15
817	c	DBT057	Diabetes Mellitus, Insulin-Dependent, 6	15
818	c	CHR143	Charcot-Marie-Tooth Disease Type 2g	15
819	c	PRT135	Protoporphyria, Erythropoietic, 2	15
820	P	MTC014	Mitochondrial Dna Deletion Syndromes	15
821	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	15
822		RNN006	Reunion Island Larsen Syndrome	15
823	c	DBT077	Diabetes Mellitus, Insulin-Dependent, 19	15
824	c	TFR001	Tfr2-Related Hereditary Hemochromatosis	15
825	c	DBT033	Diabetes Mellitus, Noninsulin-Dependent, 2	15
826		HYD055	Hydroxylysinuria	15
827	c	SPS230	Spastic Paraplegia Type 49	15
828	c	TYS005	Tay-Sachs Disease, B1 Variant	15
829	c	PRG133	Progressive Myoclonic Epilepsy Type 5	14
830	c	MLT069	Multiple Mitochondrial Dysfunctions Syndrome 2	14
831		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	14
832		ZLL010	Zellweger-Like Syndrome Without Peroxisomal Anomalies	14
833	c	DBT086	Diabetes Mellitus, Noninsulin-Dependent, 5	14
834	c	DBT079	Diabetes Mellitus, Insulin-Dependent, 21	14
835	c	DBT053	Diabetes Mellitus, Insulin-Dependent, 23	14
836	c	MYC085	Myoclonic Epilepsy, Juvenile 3	14
837	c	DBT059	Diabetes Mellitus, Insulin-Dependent, 8	14
838	c	DBT056	Diabetes Mellitus, Insulin-Dependent, 4	14
839	c	DBT055	Diabetes Mellitus, Insulin-Dependent, 3	14
840	c	DBT048	Diabetes Mellitus, Insulin-Dependent, 11	14
841		GNR029	Generalized Galactose Epimerase Deficiency	14
842	c	INF047	Infantile Free Sialic Acid Storage Disease	14
843	c	INF166	Infantile Epileptic Encephalopathy 55	14
844	c	PSD023	Pseudo-Gaucher Disease	14
845	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	14
846	c	DBT049	Diabetes Mellitus, Insulin-Dependent, 13	14
847	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	14
848		MTH068	Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect	14
849	c	DBT052	Diabetes Mellitus, Insulin-Dependent, 18	14
850	c	DBT051	Diabetes Mellitus, Insulin-Dependent, 17	14
851	c	DBT058	Diabetes Mellitus, Insulin-Dependent, 7	13
852	c	SPR097	Sporadic Hyperekplexia	13
853	c	DWL005	Dowling-Degos Disease 3	13
854		PHS019	Phosphohydroxylysinuria	13
855		MTH003	Methylmalonic Aciduria and Homocystinuria Type Cble	13
856		MTH002	Methylmalonic Aciduria and Homocystinuria Type Cblg	13
857		HYP822	Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency	13
858		HYP485	Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency	12
859	c	PRM209	Primary Trimethylaminuria	12
860	c	DBT097	Diabetes Mellitus, Noninsulin-Dependent, 4	12
861	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	11
862	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	11
863	c	DBT095	Diabetes Mellitus, Noninsulin-Dependent, 3	11
864	c	SPN122	Spondylocostal Dysostosis 2	11
865	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
866	c	GRD008	Grid2-Related Spinocerebellar Ataxia	11
867	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	11
868		GLY052	Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset	11
869	c	ACQ002	Acquired Night Blindness	11
870	c	ATS414	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd	11
871	c	FBL003	Fbln5-Related Cutis Laxa	11
872	c	INF169	Infantile Epileptic Encephalopathy 59	11
873		CHR474	Chronic Diarrhea Due to Glucoamylase Deficiency	11
874	c	SPN124	Spondylocostal Dysostosis 4	11
875	c	SPN123	Spondylocostal Dysostosis 3	11
876		ERY041	Erythrocyte Galactose Epimerase Deficiency	10
877	c	DNJ004	Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	10
878	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	10
879	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	10
880		FLN005	Folinic Acid-Responsive Seizures	10
881	c	SPS214	Spastic Ataxia 4	10
882	c	SPS171	Spastic Ataxia 5	10
883	c	VPS003	Vps35-Related Parkinson Disease	10
884	c	INF168	Infantile Epileptic Encephalopathy 58	10
885	c	INF165	Infantile Epileptic Encephalopathy 56	10
886	c	INF167	Infantile Epileptic Encephalopathy 57	10
887	c	SCN047	Secondary Pulmonary Hemosiderosis	10
888	c	ACT189	Acute Neonatal Citrullinemia Type I	10
889	c	SCN039	Secondary Central Precocious Puberty	10
890		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
891		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
892		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	10
893	c	LCT020	Lactic Acidosis, Chronic Adult Form	10
894	c	KRN003	Kernicterus Due to Isoimmunization	9
895	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	9
896	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	9
897	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	9
898	c	SPS163	Spastic Ataxia 3	9
899	c	SPS162	Spastic Ataxia 1	9
900	c	TYS006	Tay-Sachs Disease, B Variant, Adult Form	9
901	c	ADL071	Adult Krabbe Disease	9
902	c	LTN017	Late-Infantile/juvenile Krabbe Disease	9
903	c	ADL083	Adult-Onset Citrullinemia Type I	9
904	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	9
905	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	9
906	c	CHR572	Charcot-Marie-Tooth Disease Type 7	9
907		MNM005	Minimal Pigment Oculocutaneous Albinism Type 1	9
908	c	SPS229	Spastic Ataxia 8	8
909	c	SPS170	Spastic Ataxia 2	8
910		MTH069	Methylmalonic Acidemia Due to Transcobalamin Receptor Defect	8
911	c	ALP056	Alpha-Mannosidosis, Adult Form	8
912	P	TTL001	Total Internal Ophthalmoplegia	8
913	c	ALP055	Alpha-Mannosidosis, Infantile Form	8
914	c	DBT096	Diabetes Mellitus, Congenital Autoimmune	8
915	c	SPS172	Spastic Ataxia 7	8
916		DRR012	Diarrhea, Chronic, with Villous Atrophy	8
917	P	JVN036	Juvenile Sialidosis Type 2	7
918	c	CNG348	Congenital Sialidosis Type 2	7
919		TRN049	Transient Tyrosinemia of the Newborn	7
920		CNG301	Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance	7
921		CNG299	Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance	7
922		CNG304	Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance	7
923		CNG300	Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance	7
924	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	7
925		TTR020	Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria	7
926		CNG305	Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance	7
927	P	ERY016	Erythropoietic Protoporphyria, Autosomal Recessive	7
928		PRM138	Pure Mitochondrial Myopathy	6
929	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	6
930		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	6
931		TRN050	Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency	6
932		ATS112	Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity	6
933	P	SYC001	Say Carpenter Syndrome	6
934	c	ATS408	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3	6
935	c	FST011	Fastkd2-Related Infantile Mitochondrial Encephalomyopathy	5
936		XYL001	Xylt1-Cdg	5
937	c	LCT010	Lactic Acidosis Congenital Infantile	5
938		ISL027	Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type	5
939		ATS405	Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction	5
940		CRB012	Cerebral Folate Receptor Alpha Deficiency	4
941		HRD143	Hereditary Hypercarotenemia and Vitamin a Deficiency	4
942		ATS233	Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	4
943		DBT003	Diabetic Peripheral Angiopathy	3
944		MTR052	Maternally-Inherited Mitochondrial Dystonia	3
945		ADN058	Adenylosuccinase Lyase Deficiency	2
946		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	29
947		AYZ001	Ayazi Syndrome	9
948		RCK004	Rickets	65
949		MLT118	Multiple Acyl-Coa Dehydrogenase Deficiency	63
950		CMR002	Coumarin Resistance	51
951		3HY007	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	46
952		GRC001	Gracile Syndrome	34
953		MCR257	Microcephaly, Amish Type	28
954		OBS050	Obesity Due to Congenital Leptin Deficiency	18
955		CHL110	Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency	10
956	P	PRD006	Prader-Willi Syndrome	63
957		FRC001	Fructose-1,6-Bisphosphatase Deficiency	47
958		IRN004	Iron-Refractory Iron Deficiency Anemia	42
959	c	PRD028	Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15	15
960	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	13
961	c	PRD023	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2	13
962	c	PRD025	Prader-Willi Syndrome Due to Imprinting Mutation	11
963	c	PRD042	Prader-Willi-Like Syndrome Due to a Point Mutation	7
964	c	PRD024	Prader-Willi Syndrome Due to Translocation	6
965	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	6
966		GLC006	Galactosemia	66
967		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	54
968		ADN024	Adenine Phosphoribosyltransferase Deficiency	50
969		TTR005	Tetrahydrobiopterin Deficiency	41
970		3HY001	3-Hydroxyisobutyric Aciduria	25
971	P	DBT026	Diabetes Mellitus, Noninsulin-Dependent	91
972		FTT001	Fatty Liver Disease	66
973		BTN003	Biotinidase Deficiency	57
974		ALS001	Alstrom Syndrome	55
975		APP015	Apparent Mineralocorticoid Excess	55
976		HLC001	Holocarboxylase Synthetase Deficiency	53
977		LYS003	Lysinuric Protein Intolerance	53
978		ISV001	Isovaleric Acidemia	52
979		CRB186	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to	51
980		ALP077	Alpha-Methylacetoacetic Aciduria	47
981	P	CRB059	Cerebellar Degeneration	40
982	c	PRM015	Primary Cerebellar Degeneration	31
983		HYP364	Hyperostosis Frontalis Interna	30
984		DGL002	D-Glyceric Aciduria	29
985	P	PNT006	Pentosuria	24
986	c	SBC039	Subacute Cerebellar Degeneration	23
987		THP001	Thiopurine S Methyltranferase Deficiency	21
988		DPL003	Diploid-Triploid Mosaicism	15
989		EFV001	Efavirenz, Poor Metabolism of	13
990		MN1002	Man1b1-Cdg	11
991		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	70
992		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	63
993	c	FTT008	Fatty Liver Disease, Nonalcoholic 1	60
994	P	LDD007	Liddle Syndrome 1	56
995	P	NNL004	Nonalcoholic Fatty Liver Disease	55
996		CRB045	Cerebellar Hypoplasia	52
997		GLY014	Glycerol Kinase Deficiency	51
998		MTH078	Methylmalonic Aciduria, Cblb Type	47
999		SLR001	Sialuria	44
1000		IRN008	Iron Overload in Africa	43
1001		MLT018	Multiple Carboxylase Deficiency	41
1002		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	35
1003		MLN011	Malonyl-Coa Decarboxylase Deficiency	33
1004		2MT003	2-Methylbutyryl-Coa Dehydrogenase Deficiency	32
1005		MTH056	Methylmalonic Aciduria and Homocystinuria, Cblf Type	31
1006		HWK001	Hawkinsinuria	30
1007		SCC011	Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	28
1008		FRC005	Fructosuria, Essential	28
1009		CNG016	Congenital Intrinsic Factor Deficiency	27
1010		CHR506	Choroideremia, Deafness, and Mental Retardation	24
1011		CLR029	Clark-Baraitser Syndrome	23
1012		SCC002	Saccharopinuria	23
1013	c	LDD008	Liddle Syndrome 2	23
1014	c	BMN004	Biemond Syndrome Ii	19
1015		AMN012	Aminoacidopathies	18
1016	c	FTT007	Fatty Liver Disease, Nonalcoholic 2	13
1017	P	BMN001	Biemond Syndrome	13
1018		CMR005	Camera-Marugo-Cohen Syndrome	12
1019		TGL001	Tiglic Acidemia	11
1020		MPL011	Maple Syrup Urine Disease, Mild Variant	11
1021	c	LDD009	Liddle Syndrome 3	9
1022		WNS001	Weinstein Kliman Scully Syndrome	5
1023	c	BMN003	Biemond Syndrome Type 1	3
1024	P	LVR013	Liver Disease	75
1025	P	ALC004	Alcohol Abuse	69
1026	P	DBT009	Diabetes Mellitus	67
1027	P	CNG411	Congenital Disorder of Glycosylation, Type in	66
1028	c	MCL062	Mucolipidosis Ii Alpha/beta	66
1029		ISC004	Ischemia	66
1030		ETN001	Eating Disorder	64
1031		PRP083	Porphyria, Acute Intermittent	64
1032	P	HML002	Hemolytic Anemia	63
1033		HYP056	Hypoglycemia	63
1034		SDD001	Sudden Infant Death Syndrome	62
1035	P	HYP724	Hyperlipoproteinemia, Type Iii	62
1036		GST033	Gestational Diabetes	62
1037		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	62
1038	P	MCL013	Mucolipidosis Iv	61
1039		PTR032	Peters-Plus Syndrome	60
1040	P	MTR004	Maturity-Onset Diabetes of the Young	60
1041	P	NPH012	Nephrotic Syndrome	59
1042	P	CTR002	Cataract	58
1043	P	PRM051	Primary Pigmented Nodular Adrenocortical Disease	58
1044		WST001	West Syndrome	57
1045		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	57
1046	P	HYP014	Hyperuricemia	56
1047	c	DWL002	Dowling-Degos Disease 1	56
1048	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	55
1049		IRN001	Iron Deficiency Anemia	55
1050		CTR172	Citrullinemia, Classic	55
1051		HMZ003	Homozygous Familial Hypercholesterolemia	55
1052		VTM028	Vitamin E, Familial Isolated Deficiency of	55
1053	P	MTC133	Mitochondrial Myopathy	54
1054		MND021	Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome	54
1055		SGW002	Segawa Syndrome, Autosomal Recessive	54
1056	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	54
1057	P	HYP614	Hyperlipidemia, Familial Combined	54
1058	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
1059		MCR004	Macroglobulinemia	53
1060	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	53
1061	P	SHR001	Short Bowel Syndrome	53
1062		VTM027	Vitamin D-Dependent Rickets, Type 2a	53
1063		HYP732	Hyperalphalipoproteinemia 1	53
1064	c	ACT134	Acute Liver Failure	53
1065	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	52
1066		BTY001	Butyrylcholinesterase Deficiency	52
1067		HMS001	Hemosiderosis	52
1068	c	NPH055	Nephrotic Syndrome, Type 1	51
1069	P	FML035	Familial Hyperlipidemia	51
1070	c	HMC009	Hemochromatosis Type 2	51
1071	P	PSD015	Pseudohypoparathyroidism	50
1072		FSH001	Fish-Eye Disease	50
1073	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	50
1074	P	HYP818	Hypobetalipoproteinemia, Familial, 1	50
1075	c	CRG004	Crigler-Najjar Syndrome, Type Ii	50
1076		HYP088	Hyper-Igd Syndrome	50
1077	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
1078		LPD009	Lipid Storage Disease	49
1079		MTC020	Mitochondrial Complex Ii Deficiency	49
1080		HYP017	Hypophosphatemia	48
1081	P	LCT002	Lactose Intolerance	48
1082		WRN003	Wernicke Encephalopathy	48
1083	c	HMC035	Hemochromatosis, Type 4	47
1084		GLC106	Glucocorticoid Resistance, Generalized	47
1085	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	47
1086	c	CNG027	Congenital Hemolytic Anemia	47
1087	c	LBR012	Leber Congenital Amaurosis 2	46
1088	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	46
1089	c	LBR004	Leber Congenital Amaurosis 1	46
1090		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	45
1091		DWR001	Dwarfism	45
1092		GLC004	Galactokinase Deficiency	45
1093	c	ALB020	Albinism, Oculocutaneous, Type Iii	45
1094	c	HYP768	Hyperlipoproteinemia, Type I	44
1095	c	HMC010	Hemochromatosis, Type 3	44
1096	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	44
1097	c	HYP396	Hypercholesterolemia, Autosomal Recessive	43
1098		SPH010	Sphingolipidosis	43
1099	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	43
1100		HYP081	Hypolipoproteinemia	43
1101		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	43
1102	c	BRT050	Bartter Syndrome, Type 2, Antenatal	43
1103	c	L2H001	L-2-Hydroxyglutaric Aciduria	42
1104	P	HRD001	Hereditary Multiple Exostoses	42
1105		GLY081	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency	42
1106		MTR082	Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction	42
1107		PLY052	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	42
1108	P	PLL002	Pellagra	42
1109	c	ATS331	Autosomal Recessive Limb-Girdle Muscular Dystrophy	42
1110	c	PNT036	Pontocerebellar Hypoplasia, Type 6	42
1111	c	LPD019	Lipodystrophy, Partial, Acquired	42
1112		GLY031	Glycoproteinosis	42
1113	c	MCP047	Mucopolysaccharidosis, Type Iva	42
1114	c	SPN330	Spondylocostal Dysostosis 5	41
1115		MTC111	Mitochondrial Neurogastrointestinal Encephalomyopathy	41
1116	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	41
1117		CNZ001	Coenzyme Q10 Deficiency Disease	41
1118		EPL131	Epilepsy, Pyridoxine-Dependent	41
1119		DHY011	Dihydropyrimidinase Deficiency	41
1120		HYP815	Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome	41
1121		HYP236	Hyperbilirubinemia, Rotor Type	41
1122		SVR095	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency	41
1123	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	41
1124		CRB148	Cerebral Creatine Deficiency Syndrome 3	41
1125	c	SPN308	Spinocerebellar Ataxia 28	41
1126	c	MSC103	Muscular Dystrophy-Dystroglycanopathy , Type C, 4	40
1127	c	HYP290	Hypobetalipoproteinemia, Familial, 2	40
1128	c	LBR019	Leber Congenital Amaurosis 9	40
1129	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	40
1130	c	NPH049	Nephrotic Syndrome, Type 2	40
1131		MTH074	Methionine Adenosyltransferase I/iii Deficiency	40
1132	c	CTR129	Cataract 31, Multiple Types	40
1133		SLF014	Sulfite Oxidase Deficiency, Isolated	39
1134	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	39
1135	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	39
1136		HYP003	Hypermethioninemia	39
1137	c	HRM011	Hermansky-Pudlak Syndrome 8	39
1138		PYR016	Pyridoxine Deficiency	39
1139	c	ATS277	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	39
1140		ASP024	Asparagine Synthetase Deficiency	39
1141		TRN021	Transaldolase Deficiency	39
1142	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	39
1143	c	ATS246	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	39
1144	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	39
1145	c	ATS279	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	39
1146	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	38
1147	c	MSC175	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	38
1148		MCP033	Mucopolysaccharidoses	38
1149	c	HRM012	Hermansky-Pudlak Syndrome 9	38
1150		BTR002	Beta-Ureidopropionase Deficiency	38
1151	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	38
1152	c	GLY044	Glycogen Storage Disease Ixc	38
1153	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	38
1154		CRT020	Cortisone Reductase Deficiency	37
1155	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	37
1156	c	CNG413	Congenital Short Bowel Syndrome	37
1157		KSH001	Keshan Disease	37
1158		ALP011	Alpha-Ketoglutarate Dehydrogenase Deficiency	37
1159	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	37
1160	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	37
1161	c	MSC108	Muscular Dystrophy-Dystroglycanopathy , Type C, 2	37
1162	P	ANT061	Antenatal Bartter Syndrome	37
1163	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	36
1164	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	36
1165	c	GM2005	Gm2-Gangliosidosis, Ab Variant	36
1166	c	GLY016	Glycogen Storage Disease Ib	36
1167	c	LPD034	Lipodystrophy, Familial Partial, Type 4	36
1168	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	36
1169	c	BLC011	Bile Acid Synthesis Defect, Congenital, 3	36
1170	c	ATS217	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	36
1171	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	35
1172	P	SCH017	Schindler Disease	35
1173		DSM002	Desmosterolosis	35
1174	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	35
1175		NCT003	N-Acetylglutamate Synthase Deficiency	35
1176	c	HMC034	Hemochromatosis, Type 5	35
1177	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	35
1178		KNZ001	Kanzaki Disease	35
1179	c	ATS280	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	35
1180	c	ALB024	Albinism, Ocular, Type I	35
1181	c	ATS330	Autosomal Dominant Limb-Girdle Muscular Dystrophy	35
1182	c	BRT056	Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness	34
1183	c	NPH054	Nephrotic Syndrome, Type 3	34
1184	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	34
1185	c	HRM010	Hermansky-Pudlak Syndrome 7	34
1186		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	34
1187		PNC048	Pancreatic Lipase Deficiency	34
1188		PPC001	Pepck 1 Deficiency	34
1189	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
1190	c	BNG079	Benign Adult Familial Myoclonic Epilepsy	33
1191	c	PRK071	Parkinson Disease 14, Autosomal Recessive	33
1192	P	PRK101	Parkinsonism-Dystonia, Infantile, 1	33
1193	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	33
1194	c	BRT052	Bartter Syndrome, Type 1, Antenatal	33
1195	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	33
1196	c	MSC093	Muscular Dystrophy-Dystroglycanopathy , Type C, 3	33
1197		HMC001	Homocarnosinosis	33
1198	c	ATS298	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	32
1199		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	32
1200		MTC008	Mitochondrial Complex Iii Deficiency	32
1201	c	HYP804	Hyperlipidemia, Combined, 1	32
1202	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	32
1203	P	ALB023	Albinism, Ocular, with Sensorineural Deafness	32
1204	c	ATS247	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c	32
1205	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	32
1206	P	CNG002	Congenital Bile Acid Synthesis Defect	32
1207	c	MSC111	Muscular Dystrophy-Dystroglycanopathy , Type C, 7	32
1208	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	32
1209		PLY158	Polyglucosan Body Neuropathy, Adult Form	32
1210		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	31
1211	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	31
1212	c	MYC083	Myoclonic Epilepsy, Familial Infantile	31
1213		CMB012	Combined Oxidative Phosphorylation Deficiency 1	31
1214	c	LBR005	Leber Congenital Amaurosis 10	31
1215	P	FRS004	Free Sialic Acid Storage Disorders	31
1216	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	31
1217	c	LBR018	Leber Congenital Amaurosis 8	31
1218	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	31
1219		PHS023	Phosphoserine Aminotransferase Deficiency	31
1220	c	MSC184	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	31
1221	c	CTR102	Cataract 2, Multiple Types	31
1222	c	SPN284	Spinocerebellar Ataxia 38	31
1223	c	MSC181	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	31
1224	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	31
1225		24D001	2,4-Dienoyl-Coa Reductase Deficiency	31
1226	c	MSC058	Muscular Dystrophy, Limb-Girdle, Type 1h	31
1227	c	PNT032	Pontocerebellar Hypoplasia, Type 9	31
1228	c	HYP716	Hypermanganesemia with Dystonia 1	30
1229	c	CTR096	Cataract 6, Multiple Types	30
1230		CNG428	Congenital Muscular Dystrophy Without Intellectual Disability	30
1231	c	LBR016	Leber Congenital Amaurosis 6	30
1232		MTC107	Mitochondrial Complex I Deficiency Due to Acad9 Deficiency	30
1233	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	30
1234		GLY099	Glycogen Storage Disease Ixa1	30
1235	c	PNT033	Pontocerebellar Hypoplasia, Type 10	30
1236	c	FML324	Familial Porphyria Cutanea Tarda	30
1237	c	ANM035	Anemia, Hypochromic Microcytic, with Iron Overload 1	30
1238	c	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	30
1239	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	30
1240	c	MSC176	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	29
1241		MTH077	Methylmalonic Aciduria, Cbla Type	29
1242	c	CTR095	Cataract 8, Multiple Types	29
1243	c	CRD181	Ceroid Lipofuscinosis, Neuronal, 8	29
1244	c	GLY043	Glycogen Storage Disease Xii	29
1245	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	29
1246	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	29
1247		MND023	Mend Syndrome	29
1248	c	GLY097	Glycogen Storage Disease Ixb	29
1249	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	29
1250		CMB040	Combined D-2- and L-2-Hydroxyglutaric Aciduria	28
1251	c	GCH013	Gaucher Disease, Type Iiic	28
1252	c	CTR132	Cataract 3, Multiple Types	28
1253		LCT017	Lactate Dehydrogenase B Deficiency	28
1254	c	MSC178	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	28
1255	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	28
1256	c	GLY009	Glycogen Storage Disease Xv	28
1257	c	NPH047	Nephrotic Syndrome, Type 4	28
1258	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	28
1259	c	CHR491	Charcot-Marie-Tooth Disease, Dominant Intermediate a	28
1260	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	28
1261	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	28
1262	c	LBR015	Leber Congenital Amaurosis 5	28
1263		MTC068	Mitochondrial Complex V Deficiency, Nuclear Type 2	27
1264		VTM024	Vitamin B12-Responsive Methylmalonic Acidemia	27
1265		3MT022	3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia	27
1266		MLD010	Mild Phenylketonuria	27
1267	c	HYP248	Hyperprolinemia, Type I	27
1268		GLY061	Glycogen Storage Disease 0, Muscle	27
1269	c	HYP603	Hyperoxaluria, Primary, Type Iii	27
1270	c	MSC182	Muscular Dystrophy-Dystroglycanopathy , Type C, 15	27
1271	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	27
1272	c	PNT050	Pontocerebellar Hypoplasia, Type 11	26
1273	c	PNT030	Pontocerebellar Hypoplasia, Type 8	26
1274	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	26
1275	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	26
1276	c	MSC179	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	26
1277	c	ATS299	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	26
1278	c	LPD036	Lipodystrophy, Familial Partial, Type 6	26
1279	c	ATS132	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f	26
1280	c	PGM011	Pigmented Nodular Adrenocortical Disease, Primary, 2	26
1281	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	26
1282	c	PRK065	Parkinson Disease 20, Early-Onset	26
1283	c	MSC180	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	25
1284	c	PGM021	Pigmented Nodular Adrenocortical Disease, Primary, 1	25
1285		EPL206	Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions	25
1286	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	25
1287	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	25
1288	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	25
1289	c	MSC183	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	25
1290		CNG466	Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	25
1291	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	25
1292	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	25
1293	c	LBR008	Leber Congenital Amaurosis 13	25
1294	c	ATS207	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	25
1295		PYR018	Pyruvate Dehydrogenase Phosphatase Deficiency	25
1296	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	25
1297	c	LPD030	Lipodystrophy, Familial Partial, Type 5	25
1298		CYS046	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type	25
1299	c	CTR169	Cataract 29	25
1300	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	25
1301		CNZ010	Coenzyme Q10 Deficiency, Primary, 7	24
1302	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	24
1303	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	24
1304	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	24
1305	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	24
1306	c	PGM022	Pigmented Nodular Adrenocortical Disease, Primary, 4	24
1307	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	24
1308	c	PRK091	Parkinson Disease 4, Autosomal Dominant	24
1309		CMB014	Combined Oxidative Phosphorylation Deficiency 3	24
1310	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	24
1311		GLY065	Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency	24
1312	c	CTR181	Cataract 18	24
1313	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	24
1314	c	DMN006	Diamond-Blackfan Anemia 3	24
1315	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	24
1316	c	ALC016	Alcohol Sensitivity, Acute	23
1317	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	23
1318	c	EPL129	Epileptic Encephalopathy, Early Infantile, 25	23
1319	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	23
1320	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	23
1321	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
1322		CMB008	Combined Oxidative Phosphorylation Deficiency	23
1323	c	CHR622	Charcot-Marie-Tooth Disease Type 2a2	23
1324	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	23
1325		CMB084	Combined Oxidative Phosphorylation Deficiency 34	23
1326	c	HYP597	Hyperprolinemia, Type Ii	23
1327	c	CTR119	Cataract 32, Multiple Types	23
1328	c	DMN005	Diamond-Blackfan Anemia 2	23
1329	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	23
1330		MTC091	Mitochondrial Complex Iii Deficiency, Nuclear Type 2	23
1331	c	INT262	Intermediate Maple Syrup Urine Disease	23
1332	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	23
1333		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	23
1334		CNG426	Congenital Muscular Dystrophy with Cerebellar Involvement	23
1335		CMB054	Combined Oxidative Phosphorylation Deficiency 23	22
1336		VRR003	Verruciform Xanthoma of Skin	22
1337		MCR315	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	22
1338	c	PRR024	Perrault Syndrome 3	22
1339	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	22
1340		TRH001	Trehalase Deficiency	22
1341	c	CTR162	Cataract 47	22
1342	c	ATS133	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g	22
1343	c	NPH073	Nephrotic Syndrome, Type 8	22
1344	P	HYP821	Hypermanganesemia with Dystonia	22
1345	c	LCT011	Lactose Intolerance, Adult Type	22
1346		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	22
1347		MTC141	Mitochondrial Complex V Deficiency, Nuclear Type 5	22
1348	c	ATS315	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r	22
1349		CMB019	Combined Oxidative Phosphorylation Deficiency 8	22
1350		URC006	Urocanase Deficiency	22
1351		HYP279	Hypercholanemia, Familial	22
1352		CNG427	Congenital Muscular Dystrophy with Intellectual Disability	22
1353	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	22
1354	c	PRK102	Parkinsonism-Dystonia, Infantile, 2	22
1355		MTC037	Mitochondrial Phosphate Carrier Deficiency	22
1356	c	ATS211	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	21
1357	c	NPH074	Nephrotic Syndrome, Type 9	21
1358	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	21
1359	c	ATS332	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w	21
1360		CMB047	Combined Oxidative Phosphorylation Deficiency 18	21
1361		CMB025	Combined Oxidative Phosphorylation Deficiency 10	21
1362		CRN042	Carnosinemia	21
1363	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	21
1364		ENC050	Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities	21
1365	c	BLC016	Bile Acid Synthesis Defect, Congenital, 5	21
1366	c	BLC018	Bile Acid Synthesis Defect, Congenital, 6	21
1367		CMB041	Combined Oxidative Phosphorylation Deficiency 13	21
1368		CMB083	Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia	21
1369	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	21
1370	c	SDR005	Sideroblastic Anemia Acquired	21
1371		TRN067	Transcobalamin I Deficiency	20
1372	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	20
1373		BSP004	Bisphosphoglycerate Mutase Deficiency	20
1374		FTL003	Fatal Infantile Encephalocardiomyopathy	20
1375	c	NPH103	Nephrotic Syndrome, Type 15	20
1376	P	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	20
1377		CMB072	Combined Oxidative Phosphorylation Deficiency 28	20
1378	c	MSC186	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21	20
1379		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	20
1380		MTC025	Mitochondrial Myopathy with Diabetes	20
1381	c	NPH096	Nephrotic Syndrome, Type 12	20
1382	c	NPH095	Nephrotic Syndrome, Type 11	20
1383	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	19
1384		BRK013	Birk-Landau-Perez Syndrome	19
1385		FTL054	Fatal Infantile Cytochrome C Oxidase Deficiency	19
1386	c	LBR017	Leber Congenital Amaurosis 7	19
1387	P	NMN012	Niemann-Pick Disease Type C, Juvenile Neurologic Onset	18
1388	c	NPH104	Nephrotic Syndrome, Type 16	18
1389	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
1390	c	LBR006	Leber Congenital Amaurosis 11	18
1391	c	MSC187	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	18
1392	c	HYP302	Hypomagnesemia 4, Renal	18
1393		HYD031	Hydroxyprolinemia	18
1394	c	PGM012	Pigmented Nodular Adrenocortical Disease, Primary, 3	18
1395	c	NPH076	Nephrotic Syndrome, Type 10	18
1396		RNL111	Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia	18
1397	c	NMN010	Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset	18
1398	c	NMN009	Niemann-Pick Disease Type C, Late Infantile Neurologic Onset	18
1399	c	NMN011	Niemann-Pick Disease Type C, Adult Neurologic Onset	18
1400		NRD004	Neurodegeneration Due to Cerebral Folate Transport Deficiency	18
1401	c	CHR139	Charcot-Marie-Tooth Disease Type 2c	17
1402	c	EXS021	Exostoses, Multiple, Type Iii	17
1403		INT043	Intestinal Disaccharidase Deficiency	17
1404	c	DWL003	Dowling-Degos Disease 2	17
1405		NNP016	Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy	17
1406	c	NPH093	Nephrotic Syndrome, Type 13	17
1407	c	CTR025	Cataract, Total Congenital	17
1408	c	MSC189	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	16
1409	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	16
1410	c	CHR550	Charcot-Marie-Tooth Disease Type 2n	16
1411		VLN001	Valinemia	16
1412		PRD033	Periodic Paralysis with Later-Onset Distal Motor Neuropathy	16
1413	c	HRD048	Hereditary Hyperuricemia	15
1414		BTM003	Beta-Aminoisobutyric Aciduria	15
1415	c	GLT029	Glutaric Acidemia Type Iii	15
1416		HRD160	Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors	15
1417		DBS003	Dibasic Amino Aciduria I	15
1418		FML315	Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia	14
1419	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	14
1420	c	ATS261	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B	14
1421	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	14
1422		LGH017	Leigh Syndrome with Nephrotic Syndrome	13
1423	c	CHR571	Charcot-Marie-Tooth Disease Type 5	13
1424		IDP068	Idiopathic Malabsorption Due to Bile Acid Synthesis Defects	13
1425	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	13
1426	c	CHR553	Charcot-Marie-Tooth Disease Type 2q	12
1427	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	12
1428	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	12
1429	c	CHR551	Charcot-Marie-Tooth Disease Type 2o	11
1430	c	HYP333	Hyperlipidemia, Combined, 2	11
1431	c	ATS333	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	11
1432	c	PMP012	Pmp2-Related Charcot-Marie-Tooth Disease Type 1	11
1433	c	INT094	Intermediate Severe Salla Disease	10
1434	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	9
1435		ERY024	Erythropoietic Uroporphyria Associated with Myeloid Malignancy	9
1436	c	EPL009	Epilepsy Progressive Myoclonic Type 3	8
1437	c	CTR008	Cataract Congenital Autosomal Dominant	8
1438	c	SJG003	Sjogren-Larsson-Like Syndrome	7
1439		MTC093	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form	7
1440		FTL050	Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency	7
1441	c	SCN046	Secondary Short Bowel Syndrome	6
1442		INF171	Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	5
1443		BLC013	Bile Acid Coa Ligase Deficiency and Defective Amidation	5
1444	c	MYG002	Myoglobinuria Dominant Form	5
1445	c	HMC017	Homocystinuria Due to Defect in Methylation Cbl E	4
1446	c	HMC018	Homocystinuria Due to Defect in Methylation Cbl G	4
1447		WLS003	Wilson-Turner X-Linked Mental Retardation Syndrome	46
1448		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	56
1449		MHM001	Mehmo Syndrome	31
1450		ERY061	Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige	35
1451		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	51
1452	P	GLT035	Glutaric Acidemia I	44
1453		3HY010	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	26
1454		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	54
1455		CRN295	Carnitine Palmitoyltransferase I Deficiency	53
1456		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	58
1457	P	TRC086	Trichohepatoenteric Syndrome 1	51
1458	P	MNN019	Mannosidosis, Beta a, Lysosomal	51
1459		HST006	Histidinemia	45
1460		MTC026	Mitochondrial Myopathy with Lactic Acidosis	29
1461	c	TRC078	Trichohepatoenteric Syndrome 2	22
1462	P	PLY011	Polycystic Ovary Syndrome	64
1463		FRC011	Fructose Intolerance, Hereditary	60
1464		CRN296	Carnitine Palmitoyltransferase Ii Deficiency, Infantile	60
1465		GLY010	Glycine Encephalopathy	56
1466		ARM002	Aromatic L-Amino Acid Decarboxylase Deficiency	56
1467		CHY002	Chylomicron Retention Disease	55
1468		CRN239	Carnitine Deficiency, Systemic Primary	52
1469	c	XNT010	Xanthinuria, Type I	52
1470		ULN003	Ulnar-Mammary Syndrome	50
1471		ENC055	Encephalopathy, Ethylmalonic	48
1472		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	48
1473	c	MGL018	Megaloblastic Anemia 1	47
1474		ADP001	Adiposis Dolorosa	45
1475	c	PLY105	Polycystic Ovary Syndrome 1	45
1476		GLC011	Galactose Epimerase Deficiency	45
1477		ADN022	Adenylosuccinase Deficiency	38
1478	P	HYP769	Hyperlysinemia, Type I	37
1479		FMR004	Fumarase Deficiency	35
1480	c	XNT011	Xanthinuria, Type Ii	35
1481		INT088	Intrinsic Factor Deficiency	31
1482		LGH003	Leigh Syndrome, French Canadian Type	29
1483	P	HYP658	Hypoplastic Amelogenesis Imperfecta	27
1484		MTC108	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	24
1485	c	AML006	Amelogenesis Imperfecta Hypoplastic Type, Ig	23
1486		BTN005	Biotin-Thiamine-Responsive Basal Ganglia Disease	21
1487		STR067	Stroke, Ischemic	85
1488		LPD012	Lipoid Congenital Adrenal Hyperplasia	71
1489		SCH036	Scheie Syndrome	69
1490	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	69
1491		SND001	Sandhoff Disease	66
1492	c	NMN015	Niemann-Pick Disease, Type C1	65
1493		CYS013	Cystinuria	65
1494	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	64
1495	P	HYP086	Hypothyroidism	63
1496		PRP001	Propionic Acidemia	63
1497	c	MCP001	Mucopolysaccharidosis Iii	63
1498	P	GLL020	Gallbladder Disease	63
1499	c	CNG006	Congenital Hypothyroidism	63
1500	c	MSC036	Muscular Dystrophy-Dystroglycanopathy , Type C, 5	62
1501	c	MCP052	Mucopolysaccharidosis, Type Vi	62
1502		DBT083	Diabetes Mellitus, Permanent Neonatal	62
1503	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	62
1504	P	NRN021	Neuronal Ceroid Lipofuscinosis	62
1505	P	MLG056	Malignant Hyperthermia	62
1506	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	61
1507	c	GNG001	Gangliosidosis Gm1	61
1508	c	GLY060	Glycogen Storage Disease Ia	61
1509		HYP190	Hypoalphalipoproteinemia, Primary	60
1510		LNN001	Lennox-Gastaut Syndrome	60
1511		NRM019	Neuraminidase Deficiency	60
1512		GST037	Gastroparesis	59
1513		PYR041	Pyruvate Kinase Deficiency of Red Cells	59
1514		ORN008	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	59
1515		DBN001	Dubin-Johnson Syndrome	58
1516	P	FCS002	Fucosidosis	58
1517	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	58
1518	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	57
1519	c	MCP004	Mucopolysaccharidosis Iv	57
1520	c	INF145	Infantile Liver Failure Syndrome 1	57
1521	c	AMY009	Amyloidosis Aa	56
1522	c	MSC170	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	56
1523	P	PRG047	Progressive Familial Intrahepatic Cholestasis	56
1524		DPM007	Dopamine Beta-Hydroxylase Deficiency, Congenital	56
1525		DBF001	D-Bifunctional Protein Deficiency	56
1526	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	56
1527		PPL049	Papillon-Lefevre Syndrome	55
1528	P	LMB006	Limb-Girdle Muscular Dystrophy	55
1529	P	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	55
1530	c	GLY004	Glycogen Storage Disease V	55
1531		CYS010	Cystinosis	55
1532		CNV004	Canavan Disease	55
1533	P	ACT092	Acth-Independent Macronodular Adrenal Hyperplasia	55
1534		HYP052	Hyperkalemic Periodic Paralysis	54
1535		RNL051	Renal Cysts and Diabetes Syndrome	54
1536		HMC014	Homocysteinemia	54
1537		CLC001	Calciphylaxis	53
1538		PRN011	Pernicious Anemia	53
1539		FML026	Familial Lipoprotein Lipase Deficiency	53
1540	c	PTT057	Pituitary Adenoma 4, Acth-Secreting	53
1541	P	FML012	Familial Partial Lipodystrophy	52
1542		HPT025	Hepatic Lipase Deficiency	52
1543	P	ACT010	Acth-Secreting Pituitary Adenoma	52
1544	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
1545		CYS036	Cystinosis, Nephropathic	52
1546		OCC006	Occipital Horn Syndrome	52
1547		NPH003	Nephrocalcinosis	51
1548		GYR004	Gyrate Atrophy of Choroid and Retina	51
1549	c	HYP331	Hyperphenylalaninemia, Bh4-Deficient, a	51
1550	c	LPD021	Lipodystrophy, Familial Partial, Type 3	51
1551	c	GLY011	Glycogen Storage Disease Vii	51
1552	c	GLL024	Gallbladder Disease 1	51
1553		DYS161	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency	51
1554		PYC001	Pycnodysostosis	50
1555		MTC027	Mitochondrial Trifunctional Protein Deficiency	50
1556	c	DMN023	Diamond-Blackfan Anemia 1	50
1557	c	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	50
1558	P	KRN004	Kernicterus	50
1559	c	GLY005	Glycogen Storage Disease Vi	49
1560	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	49
1561	c	HYP740	Hyperlipoproteinemia, Type V	49
1562	c	ERL057	Early Infantile Epileptic Encephalopathy	49
1563		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	49
1564	c	HYP739	Hyperlipoproteinemia, Type Iv	49
1565	P	D2H002	D-2-Hydroxyglutaric Aciduria 1	49
1566	P	OCL001	Ocular Albinism	49
1567		HYP781	Hypoascorbemia	48
1568		PRP056	Porphyria, Acute Hepatic	48
1569	c	CRB193	Cerebral Amyloid Angiopathy, App-Related	48
1570	P	SLL003	Salla Disease	48
1571	c	CHR095	Chronic Progressive External Ophthalmoplegia	47
1572	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	47
1573	c	MCL046	Mucolipidosis Iii Alpha/beta	47
1574		ALB002	Albinism	47
1575	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	47
1576	c	HRM017	Hermansky-Pudlak Syndrome 2	46
1577		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	46
1578	P	PLM085	Pulmonary Hemosiderosis	46
1579	c	MSC173	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	46
1580	c	EXS019	Exostoses, Multiple, Type I	46
1581	P	DWL001	Dowling-Degos Disease	46
1582	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	46
1583	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	46
1584		CRB150	Cerebral Creatine Deficiency Syndrome 2	46
1585	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	46
1586	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	46
1587	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	46
1588	c	MSC169	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	45
1589	P	RNL045	Renal Tubular Acidosis, Distal	45
1590	c	MCP044	Mucopolysaccharidosis, Type Iiib	45
1591		IMN001	Iminoglycinuria	45
1592		BRB001	Beriberi	45
1593		HMC041	Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity	45
1594	c	MSC172	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	45
1595		GLC022	Glucose/galactose Malabsorption	44
1596		SNS008	Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis	44
1597		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	44
1598	c	LPD040	Lipodystrophy, Familial Partial, Type 1	44
1599	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	44
1600	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	44
1601	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	43
1602		ATX029	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	43
1603		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	43
1604		GLY015	Glycine N-Methyltransferase Deficiency	43
1605	P	PNT019	Pontocerebellar Hypoplasia	43
1606	c	MSC174	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	43
1607		CYS019	Cystathioninuria	43
1608	c	RNL046	Renal Tubular Acidosis, Distal, Autosomal Dominant	43
1609	P	MNT319	Mental Retardation, Autosomal Dominant 20	43
1610		FML036	Familial Periodic Paralysis	42
1611	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	42
1612		GLT018	Glut1 Deficiency Syndrome 1	42
1613	P	CNG436	Congenital Disorder of Deglycosylation	42
1614	c	GM1004	Gm1-Gangliosidosis, Type I	42
1615	c	HYP794	Hyperoxaluria, Primary, Type I	42
1616	c	FML015	Familial Nephrotic Syndrome	41
1617	c	MNT143	Mental Retardation, Autosomal Dominant 13	41
1618	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	41
1619	c	PRK090	Parkinson Disease 3, Autosomal Dominant	40
1620	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	40
1621	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	40
1622	P	HYP605	Hyperphenylalaninemia, Bh4-Deficient, B	40
1623	c	ATS295	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a	40
1624	c	MLG147	Malignant Hyperthermia 1	40
1625	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	40
1626	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	40
1627		ACT209	Acatalasemia	40
1628	P	HYP758	Hyperuricemic Nephropathy, Familial Juvenile, 1	39
1629		MSC028	Muscular Dystrophy, Congenital, Megaconial Type	39
1630	c	ATS296	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b	39
1631	c	PNT010	Pontocerebellar Hypoplasia Type 1	39
1632		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	39
1633	c	MYG007	Myoglobinuria, Recurrent	39
1634		MLY001	Molybdenum Cofactor Deficiency	39
1635	P	2HY001	2-Hydroxyglutaric Aciduria	39
1636	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	38
1637		CLS040	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency	38
1638		APL017	Apolipoprotein C-Ii Deficiency	38
1639	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	38
1640		DCR008	Dicarboxylic Aminoaciduria	38
1641	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	38
1642	c	GM1005	Gm1-Gangliosidosis, Type Ii	37
1643		HMC038	Hemochromatosis, Neonatal	37
1644	c	HYP534	Hypomagnesemia 3, Renal	37
1645	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	37
1646	c	ALB025	Albinism, Ocular, with Late-Onset Sensorineural Deafness	37
1647	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	37
1648	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	37
1649	c	RNL047	Renal Tubular Acidosis, Distal, Autosomal Recessive	37
1650	c	MSC177	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	37
1651	P	XLN110	X-Linked Charcot-Marie-Tooth Disease	36
1652	c	NPH070	Nephrotic Syndrome, Type 6	36
1653	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	36
1654		SCR037	Sucrase-Isomaltase Deficiency, Congenital	36
1655	P	PRR025	Perrault Syndrome	36
1656	c	MSC171	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	35
1657		LTH002	Lathosterolosis	35
1658		WRN004	Wrinkly Skin Syndrome	35
1659	c	MCP045	Mucopolysaccharidosis, Type Iiic	35
1660	c	PRK085	Parkinson Disease 1, Autosomal Dominant	35
1661		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	35
1662	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	35
1663	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	35
1664	P	HYP210	Hypomagnesemia 2, Renal	35
1665	c	CRD239	Ceroid Lipofuscinosis, Neuronal, 13	34
1666	c	ATS297	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	34
1667	P	HYP111	Hyperprolinemia	34
1668	c	SCH069	Schindler Disease, Type I	34
1669	c	PRR020	Perrault Syndrome 1	33
1670	c	HYP602	Hyperoxaluria, Primary, Type Ii	33
1671	P	CTR077	Citrullinemia, Type Ii, Neonatal-Onset	33
1672		HMM002	Haim-Munk Syndrome	33
1673		SCH030	Schneckenbecken Dysplasia	32
1674	c	MCP048	Mucopolysaccharidosis, Type Ivb	32
1675		LKN026	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	32
1676	c	PNT043	Pontocerebellar Hypoplasia, Type 4	32
1677	c	HYP805	Hypercholesterolemia, Autosomal Dominant, 3	32
1678	c	MCP046	Mucopolysaccharidosis, Type Iiid	32
1679		CKS001	Ck Syndrome	32
1680	c	HYP699	Hyperekplexia 1	32
1681	c	ACT202	Acth-Independent Macronodular Adrenal Hyperplasia 2	32
1682		MTC085	Mitochondrial Complex Iii Deficiency, Nuclear Type 1	31
1683	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	31
1684	c	CNT101	Central Congenital Hypothyroidism	31
1685		GLY058	Glycogen Storage Disease 0, Liver	30
1686	c	GM1006	Gm1-Gangliosidosis, Type Iii	30
1687	c	MNT185	Mental Retardation, Autosomal Dominant 7	30
1688	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	30
1689		NST002	Nestor-Guillermo Progeria Syndrome	29
1690		IMM080	Immunodeficiency 23	29
1691	c	NPH072	Nephrotic Syndrome, Type 7	29
1692		HYP241	Hypermethioninemia Due to Adenosine Kinase Deficiency	29
1693	P	BRT053	Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness	29
1694	c	MNT212	Mental Retardation, Autosomal Dominant 26	29
1695	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	29
1696	c	BLC009	Bile Acid Synthesis Defect, Congenital, 4	29
1697	c	PNT046	Pontocerebellar Hypoplasia, Type 5	29
1698		CMB026	Combined Oxidative Phosphorylation Deficiency 12	29
1699	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	28
1700	c	MNT246	Mental Retardation, Autosomal Dominant 38	28
1701	c	MNT158	Mental Retardation, Autosomal Dominant 22	28
1702	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	28
1703	c	MNT241	Mental Retardation, Autosomal Dominant 32	28
1704	c	MNT145	Mental Retardation, Autosomal Recessive 5	28
1705	c	MNT210	Mental Retardation, Autosomal Recessive 42	28
1706	c	CRD225	Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant	28
1707		CRD231	Cardiomyopathy, Infantile Histiocytoid	27
1708	c	LVR030	Liver Failure, Infantile, Transient	27
1709		DFN350	Deafness, Aminoglycoside-Induced	27
1710	c	MNT155	Mental Retardation, Autosomal Recessive 2	27
1711		HYD030	Hydroxykynureninuria	27
1712		ISB001	Isobutyryl-Coa Dehydrogenase Deficiency	27
1713	c	MNT270	Mental Retardation, Autosomal Recessive 53	27
1714	c	MNT322	Mental Retardation, Autosomal Dominant 27	27
1715	c	MNT157	Mental Retardation, Autosomal Dominant 18	27
1716	c	MNT280	Mental Retardation, Autosomal Dominant 43	27
1717	c	MNT213	Mental Retardation, Autosomal Recessive 40	27
1718	c	MNT222	Mental Retardation, Autosomal Dominant 29	27
1719	c	MNT287	Mental Retardation, Autosomal Recessive 57	26
1720		5XP001	5-Oxoprolinase Deficiency	26
1721	c	MNT325	Mental Retardation, Autosomal Recessive 61	26
1722	P	ACR110	Acrodysostosis 1 with or Without Hormone Resistance	26
1723		HYP629	Hyperphosphatasia-Intellectual Disability Syndrome	26
1724	c	MNT166	Mental Retardation, Autosomal Recessive 39	26
1725	c	MNT150	Mental Retardation, Autosomal Recessive 15	26
1726		GLT011	Glutamine Deficiency, Congenital	26
1727	c	MNT242	Mental Retardation, Autosomal Dominant 40	26
1728	c	MNT216	Mental Retardation, Autosomal Recessive 41	26
1729	c	MNT214	Mental Retardation, Autosomal Dominant 24	26
1730	c	MNT176	Mental Retardation, Autosomal Recessive 38	25
1731	c	CHR522	Charcot-Marie-Tooth Disease, Dominant Intermediate E	25
1732	c	MNT219	Mental Retardation, Autosomal Dominant 30	25
1733	c	MNT226	Mental Retardation, Autosomal Dominant 31	25
1734		CMB011	Combined Malonic and Methylmalonic Aciduria	25
1735		CYS045	Cystinosis, Adult Nonnephropathic	25
1736	c	MNT244	Mental Retardation, Autosomal Recessive 49	25
1737	c	EXS020	Exostoses, Multiple, Type Ii	25
1738	c	MNT272	Mental Retardation, Autosomal Dominant 41	25
1739	c	MNT273	Mental Retardation, Autosomal Dominant 44	25
1740	c	CTR113	Cataract 11, Multiple Types	25
1741	c	MNT238	Mental Retardation, Autosomal Dominant 34	25
1742	c	MNT321	Mental Retardation, Autosomal Recessive 37	25
1743	c	MNT239	Mental Retardation, Autosomal Dominant 35	25
1744	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	25
1745	c	MNT211	Mental Retardation, Autosomal Dominant 23	25
1746	c	MNT262	Mental Retardation, Autosomal Dominant 42	25
1747	c	MNT179	Mental Retardation, Autosomal Dominant 21	25
1748		GLY033	Glycogen Storage Disease of Heart, Lethal Congenital	24
1749	c	MNT177	Mental Retardation, Autosomal Recessive 27	24
1750	c	MNT245	Mental Retardation, Autosomal Dominant 36	24
1751		DYS187	Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities	24
1752		LKN010	Leukoencephalopathy with Dystonia and Motor Neuropathy	24
1753	c	MNT324	Mental Retardation, Autosomal Dominant 49	24
1754	c	MNT181	Mental Retardation, Autosomal Recessive 35	24
1755	c	MNT183	Mental Retardation, Autosomal Recessive 36	24
1756	c	HYP813	Hyperuricemic Nephropathy, Familial Juvenile, 2	24
1757	c	MNT323	Mental Retardation, Autosomal Dominant 48	24
1758	c	MNT236	Mental Retardation, Autosomal Dominant 39	24
1759	c	ACR119	Acrodysostosis 2 with or Without Hormone Resistance	24
1760	c	MNT159	Mental Retardation, Autosomal Dominant 19	24
1761	c	MNT227	Mental Retardation, Autosomal Recessive 46	24
1762	c	MNT221	Mental Retardation, Autosomal Recessive 44	24
1763	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	24
1764	c	MNT184	Mental Retardation, Autosomal Dominant 11	24
1765		ART103	Arthrogryposis, Mental Retardation, and Seizures	24
1766	c	MNT285	Mental Retardation, Autosomal Recessive 58	24
1767	c	GLY059	Glycogen Storage Disease Xiii	23
1768		GBM001	Gaba Aminotransferase Deficiency	23
1769	c	MNT240	Mental Retardation, Autosomal Dominant 33	23
1770	c	MNT234	Mental Retardation, Autosomal Recessive 48	23
1771	c	MNT328	Mental Retardation, Autosomal Dominant 52	23
1772		GLT014	Glutathionuria	23
1773	c	MLG148	Malignant Hyperthermia 2	23
1774	P	PRM016	Primary Optic Atrophy	23
1775	c	MLG149	Malignant Hyperthermia 3	23
1776	c	MNT154	Mental Retardation, Autosomal Recessive 14	22
1777	c	MNT330	Mental Retardation, Autosomal Dominant 54	22
1778	c	MNT327	Mental Retardation, Autosomal Dominant 51	22
1779		ICH043	Ichthyosis, Spastic Quadriplegia, and Mental Retardation	22
1780	c	OPT060	Optic Atrophy 8	22
1781	c	MNT215	Mental Retardation, Autosomal Recessive 43	22
1782	c	MNT162	Mental Retardation, Autosomal Recessive 24	22
1783	c	MNT286	Mental Retardation, Autosomal Dominant 45	22
1784	c	MNT329	Mental Retardation, Autosomal Dominant 53	22
1785	c	INF138	Infantile Liver Failure Syndrome 2	22
1786	P	HYP252	Hypochromic Microcytic Anemia with Iron Overload	22
1787	c	MNT225	Mental Retardation, Autosomal Recessive 47	22
1788	c	MNT326	Mental Retardation, Autosomal Dominant 50	22
1789	c	HYP163	Hyperlipidemia Type 3	22
1790	c	ATP003	Atp6v0a2-Related Cutis Laxa	22
1791	c	MNT220	Mental Retardation, Autosomal Recessive 45	22
1792	c	MNT337	Mental Retardation, Autosomal Dominant 58	22
1793	c	MNT186	Mental Retardation, Autosomal Dominant 10	22
1794	c	PRK008	Parkinson Disease Type 9	22
1795	c	MNT172	Mental Retardation, Autosomal Recessive 25	22
1796		HYP766	Hyperbilirubinemia, Transient Familial Neonatal	22
1797	c	MNT263	Mental Retardation, Autosomal Recessive 51	22
1798	c	MNT165	Mental Retardation, Autosomal Recessive 28	22
1799	c	MLG150	Malignant Hyperthermia 4	22
1800	c	MNT275	Mental Retardation, Autosomal Recessive 60	21
1801	c	MNT278	Mental Retardation, Autosomal Dominant 46	21
1802	c	MNT151	Mental Retardation, Autosomal Recessive 18	21
1803		HYP187	Hypertryptophanemia	21
1804		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	21
1805	c	MNT163	Mental Retardation, Autosomal Recessive 30	21
1806	c	MNT182	Mental Retardation, Autosomal Recessive 19	21
1807		CMB042	Combined Oxidative Phosphorylation Deficiency 16	21
1808	c	MNT167	Mental Retardation, Autosomal Recessive 16	21
1809	c	MNT336	Mental Retardation, Autosomal Recessive 64	21
1810	c	MNT264	Mental Retardation, Autosomal Recessive 52	21
1811	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	21
1812	c	MNT170	Mental Retardation, Autosomal Recessive 23	21
1813	c	MNT180	Mental Retardation, Autosomal Recessive 33	21
1814	c	MLG151	Malignant Hyperthermia 5	21
1815	c	OPT065	Optic Atrophy 9	20
1816	c	MNT277	Mental Retardation, Autosomal Recessive 54	20
1817		CNZ009	Coenzyme Q10 Deficiency, Primary, 5	20
1818		HRL006	Harel-Yoon Syndrome	20
1819		OPT074	Optic Atrophy 7 with or Without Auditory Neuropathy	20
1820	c	MNT243	Mental Retardation, Autosomal Recessive 50	20
1821	c	MNT281	Mental Retardation, Autosomal Recessive 59	20
1822	c	MNT161	Mental Retardation, Autosomal Recessive 29	20
1823	c	GLY006	Glycogen Storage Disease Viii	20
1824	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	20
1825	c	MNT335	Mental Retardation, Autosomal Recessive 63	20
1826	c	HYP718	Hyperuricemic Nephropathy, Familial Juvenile, 4	20
1827	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	20
1828	c	MNT284	Mental Retardation, Autosomal Recessive 56	19
1829		CPP001	Copper Deficiency, Familial Benign	19
1830	c	HYP445	Hypomagnesemia 6, Renal	19
1831	c	MNT160	Mental Retardation, Autosomal Recessive 31	19
1832	c	PLL014	Pellagra-Like Syndrome	19
1833	c	MNT338	Mental Retardation, Autosomal Recessive 65	18
1834	c	MLG152	Malignant Hyperthermia 6	17
1835	c	MNT332	Mental Retardation, Autosomal Dominant 56	17
1836		MTR049	Maternally-Inherited Cardiomyopathy and Hearing Loss	17
1837	c	CHR142	Charcot-Marie-Tooth Disease Type 2f	16
1838		MTC106	Mitochondrial Non-Syndromic Sensorineural Deafness	16
1839	c	HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	15
1840		FRL002	Froelich Syndrome	14
1841	c	OPT059	Optic Atrophy 4	14
1842	c	ATS394	Autosomal Dominant Mental Retardation 55	10
1843	c	RNL048	Renal Tubular Acidosis, Distal, Type 3	10
1844		HYP492	Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation	6
1845		ATS077	Autosomal Dominant Optic Atrophy and Peripheral Neuropathy	5
1846	c	RNL049	Renal Tubular Acidosis, Distal, Type 4	5
1847		CNN003	Conn's Syndrome	73
1848		ACR006	Aceruloplasminemia	70
1849		ALK013	Alkaptonuria	58
1850		ACR056	Acrodermatitis Enteropathica, Zinc-Deficiency Type	56
1851		BRJ001	Borjeson-Forssman-Lehmann Syndrome	54
1852		AMN007	Aminoacylase 1 Deficiency	37
1853		MTH079	Methylmalonic Acidemia and Homocysteinemia, Cblx Type	22
1854		BLD065	Blue Diaper Syndrome	19
1855	P	HYP607	Hypercholesterolemia, Familial	81
1856		WLS001	Wilson Disease	70
1857	P	MTC003	Metachromatic Leukodystrophy	70
1858		LGH007	Leigh Syndrome	69
1859		ABT001	Abetalipoproteinemia	67
1860	P	LBR001	Leber Congenital Amaurosis	65
1861	c	LPM012	Lipomatosis, Multiple	64
1862		HYP020	Hyperprolactinemia	64
1863	P	HRM001	Hermansky-Pudlak Syndrome	64
1864		MNK001	Menkes Disease	64
1865	P	CRN037	Craniosynostosis	64
1866	P	CHR071	Charcot-Marie-Tooth Disease	62
1867		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	61
1868		WLK001	Walker-Warburg Syndrome	60
1869		LNG073	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	59
1870		LBR002	Leber Hereditary Optic Neuropathy	59
1871	c	GLY003	Glycogen Storage Disease Iii	59
1872		GLB001	Gilbert Syndrome	58
1873	P	HYP097	Hyperekplexia	58
1874	c	MSC037	Muscular Dystrophy-Dystroglycanopathy , Type a, 4	57
1875	c	NMN013	Niemann-Pick Disease, Type a	57
1876		MVL001	Mevalonic Aciduria	57
1877	c	ALB021	Albinism, Oculocutaneous, Type Ii	57
1878	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	57
1879	c	CHL134	Cholestasis, Benign Recurrent Intrahepatic, 1	56
1880	c	LPD015	Lipodystrophy, Familial Partial, Type 2	56
1881		BRN045	Brunner Syndrome	55
1882		DRR016	Diarrhea 2, with Microvillus Atrophy	55
1883		ALB001	Albright's Hereditary Osteodystrophy	53
1884	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	53
1885	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	53
1886	c	ALB009	Albinism, Oculocutaneous, Type Ia	53
1887	c	PSD066	Pseudohypoparathyroidism, Type Ib	53
1888	c	CHL132	Cholestasis, Progressive Familial Intrahepatic, 1	53
1889	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	53
1890		WRN002	Wernicke-Korsakoff Syndrome	53
1891		RNL024	Renal Glucosuria	53
1892		PRN001	Purine Nucleoside Phosphorylase Deficiency	52
1893	P	HMC002	Homocystinuria	52
1894		ARG007	Argininemia	51
1895	P	PRM001	Primary Cutaneous Amyloidosis	51
1896		SBL008	Sea-Blue Histiocyte Disease	51
1897		PSD014	Pseudopseudohypoparathyroidism	51
1898	c	OPT053	Optic Atrophy 1	51
1899		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	50
1900	c	ALB010	Albinism, Oculocutaneous, Type Ib	49
1901	c	NMN014	Niemann-Pick Disease, Type C2	49
1902	P	FML068	Familial Hypocalciuric Hypercalcemia	48
1903		DRR003	Diarrhea 5, with Tufting Enteropathy, Congenital	48
1904		GLT007	Glutathione Synthetase Deficiency	45
1905	c	CHL137	Cholestasis, Progressive Familial Intrahepatic, 3	45
1906		CRB151	Cerebral Creatine Deficiency Syndrome 1	45
1907	c	CHL136	Cholestasis, Progressive Familial Intrahepatic, 2	45
1908	P	AMY084	Amyloidosis, Finnish Type	45
1909	c	TYR013	Tyrosinemia, Type Ii	45
1910		MSC077	Muscle Eye Brain Disease	45
1911		GCH018	Gaucher Disease, Perinatal Lethal	45
1912	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	44
1913		CRD075	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	44
1914	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	44
1915	c	CHL118	Cholestasis, Benign Recurrent Intrahepatic, 2	44
1916		PRL019	Prolidase Deficiency	43
1917	c	BLC007	Bile Acid Synthesis Defect, Congenital, 1	43
1918		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	42
1919	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	42
1920	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	42
1921	c	CRN278	Craniosynostosis 1	41
1922		PYR037	Pyruvate Carboxylase Deficiency	41
1923		PRM237	Primary Hypomagnesemia	40
1924	c	MSC104	Muscular Dystrophy-Dystroglycanopathy , Type C, 1	40
1925	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	39
1926		NRP045	Neuropathy, Ataxia, and Retinitis Pigmentosa	37
1927		PLV001	Pelvic Lipomatosis	36
1928		BJR001	Bjornstad Syndrome	36
1929		INF129	Infantile Cerebellar-Retinal Degeneration	35
1930	c	CHL143	Cholestasis, Progressive Familial Intrahepatic, 4	35
1931		DHY010	Dihydrolipoamide Dehydrogenase Deficiency	35
1932	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	34
1933	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	34
1934	c	OPT068	Optic Atrophy 3, Autosomal Dominant	33
1935	c	CRD226	Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive	32
1936	c	PNT037	Pontocerebellar Hypoplasia, Type 3	32
1937	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	31
1938		DFN270	Deafness, Dystonia, and Cerebral Hypomyelination	29
1939	c	CRN277	Craniosynostosis 2	29
1940		HYP827	Hypomagnesemia 5, Renal, with or Without Ocular Involvement	29
1941	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	28
1942	c	CRN281	Craniosynostosis 7	27
1943	c	BLC008	Bile Acid Synthesis Defect, Congenital, 2	27
1944		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	26
1945	c	MNT282	Mental Retardation, Autosomal Recessive 55	24
1946	c	CRN221	Craniosynostosis 4	23
1947	c	FML249	Familial Amyloidosis, Finnish Type	22
1948	c	CRN256	Craniosynostosis 6	22
1949	c	MNT279	Mental Retardation, Autosomal Dominant 47	22
1950		MYP017	Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay	22
1951	c	CRN217	Craniosynostosis 3	21
1952	c	MNT334	Mental Retardation, Autosomal Dominant 57	21
1953		CNZ008	Coenzyme Q10 Deficiency, Primary, 6	21
1954		GRW003	Growth Hormone Insensitivity with Immunodeficiency	21
1955	c	CRN216	Craniosynostosis 5	19
1956	c	FCS008	Fucosidosis Type 1	10
1957	c	GM2001	Gm2 Gangliosidosis, 0 Variant	9
1958	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	9
1959	P	HYP802	Hypocalcemia, Autosomal Dominant 1	67
1960		CHD001	Chediak-Higashi Syndrome	68
1961	P	PRP003	Porphyria Cutanea Tarda	67
1962	P	MPL001	Maple Syrup Urine Disease	66
1963	P	SPN046	Spinal Muscular Atrophy	66
1964	c	ANM038	Anemia, Autoimmune Hemolytic	61
1965		KRN002	Kearns-Sayre Syndrome	61
1966	P	CRG003	Crigler-Najjar Syndrome, Type I	61
1967		LPD016	Lipoid Proteinosis of Urbach and Wiethe	61
1968	c	CRD177	Ceroid Lipofuscinosis, Neuronal, 1	60
1969	c	ALM001	Al Amyloidosis	60
1970		MYC079	Myoclonic Epilepsy of Lafora	59
1971	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	58
1972	c	PSD108	Pseudohypoparathyroidism, Type Ia	56
1973		FNC009	Fanconi-Bickel Syndrome	55
1974	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	55
1975	P	SJG002	Sjogren-Larsson Syndrome	53
1976	c	GLY007	Glycogen Storage Disease Iv	53
1977		ATR002	Atransferrinemia	52
1978	c	SPN393	Spinal Muscular Atrophy, Type I	50
1979		AMY082	Amyloidosis, Familial Visceral	50
1980	c	SPN293	Spinocerebellar Ataxia 12	49
1981	c	HRD039	Hereditary Amyloidosis	49
1982	c	SPN312	Spinocerebellar Ataxia 14	47
1983	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	46
1984	c	SPN100	Spinocerebellar Ataxia 27	45
1985	c	HYP734	Hypercholesterolemia, Autosomal Dominant, Type B	45
1986	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	44
1987	c	SPN103	Spinocerebellar Ataxia 31	44
1988	P	SDR003	Sideroblastic Anemia	44
1989	c	SPN265	Spinocerebellar Ataxia 36	43
1990	c	SPN327	Spinocerebellar Ataxia, Autosomal Recessive 1	42
1991	c	CRD179	Ceroid Lipofuscinosis, Neuronal, 7	42
1992	c	CRD184	Ceroid Lipofuscinosis, Neuronal, 5	42
1993	c	CRB176	Cerebral Amyloid Angiopathy, Itm2b-Related, 1	39
1994	c	CRB174	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	38
1995	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	38
1996	c	SPN299	Spinocerebellar Ataxia 20	36
1997	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	36
1998	c	SPN247	Spinocerebellar Ataxia Type 19/22	36
1999	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	36
2000	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	35
2001	c	SPN266	Spinocerebellar Ataxia 35	34
2002	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	34
2003	c	PSD104	Pseudohypoparathyroidism, Type Ii	33
2004	c	SPN383	Spinocerebellar Ataxia 42	33
2005	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	33
2006	c	SPN095	Spinocerebellar Ataxia 19	32
2007	c	CRD185	Ceroid Lipofuscinosis, Neuronal, 6	32
2008	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	31
2009	c	SPN099	Spinocerebellar Ataxia 26	31
2010		TMT002	Temtamy Preaxial Brachydactyly Syndrome	30
2011	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	30
2012	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	30
2013	c	SPN098	Spinocerebellar Ataxia 25	29
2014	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	28
2015	c	SPN286	Spinocerebellar Ataxia 40	28
2016	c	SPN372	Spinocerebellar Ataxia 43	27
2017	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	26
2018	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	25
2019	c	OPT064	Optic Atrophy 11	24
2020	c	SPN102	Spinocerebellar Ataxia 30	24
2021	c	SPN420	Spinocerebellar Ataxia 46	23
2022	c	OPT023	Optic Atrophy 2	22
2023	c	SPN107	Spinocerebellar Ataxia 9	19
2024	c	OPT025	Optic Atrophy 6	19
2025	c	OPT024	Optic Atrophy 5	19
2026		VSC044	Visceral Myopathy	56
2027	c	TYR012	Tyrosinemia, Type I	54
2028	c	HRM005	Hermansky-Pudlak Syndrome 1	53
2029		ARM001	Aromatase Deficiency	52
2030	c	HRM006	Hermansky-Pudlak Syndrome 3	51
2031	c	HRM008	Hermansky-Pudlak Syndrome 5	50
2032	c	HRM009	Hermansky-Pudlak Syndrome 6	44
2033	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	40
2034	c	HRM007	Hermansky-Pudlak Syndrome 4	36
2035	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	27
2036	P	ENC018	Encephalopathy	62
2037	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	49
2038	P	NRD007	Neurodegeneration with Brain Iron Accumulation	48
2039	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	45
2040	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	42
2041	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	42
2042	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	41
2043	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	41
2044	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	40
2045	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	39
2046	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	39
2047	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	39
2048	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	38
2049	c	SPS021	Spastic Paraplegia 10	32
2050	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	31
2051	c	SPS036	Spastic Paraplegia 3	30
2052	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	29
2053	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	29
2054	c	SPS027	Spastic Paraplegia 17	25
2055	c	SPS013	Spastic Paraplegia 8	24
2056	c	SPS023	Spastic Paraplegia 13	21
2057	c	SPS028	Spastic Paraplegia 18	20
2058	c	SPS034	Spastic Paraplegia 26	20
2059	c	SPS080	Spastic Paraplegia 51	20
2060	c	SPS029	Spastic Paraplegia 19	19
2061	c	SPS032	Spastic Paraplegia 24	19
2062	c	SPS035	Spastic Paraplegia 29	19
2063	c	SPS033	Spastic Paraplegia 25	19
2064	c	SPS022	Spastic Paraplegia 12	18
2065	c	SPS161	Spastic Paraplegia 32	18
2066	c	SPS026	Spastic Paraplegia 16	18
2067	c	SPS024	Spastic Paraplegia 14	17
2068	c	SPS040	Spastic Paraplegia 5b	15
2069		KRT002	Keratomalacia	56
2070	c	SPN291	Spinocerebellar Ataxia 7	55
2071	c	SPN309	Spinocerebellar Ataxia 6	50
2072	c	SPN314	Spinocerebellar Ataxia 10	50
2073	c	SPN296	Spinocerebellar Ataxia 17	47
2074	c	SPN305	Spinocerebellar Ataxia 11	44
2075	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	42
2076	c	SPN106	Spinocerebellar Ataxia 5	41
2077	c	SPN290	Spinocerebellar Ataxia 15	41
2078	c	SPN283	Spinocerebellar Ataxia 37	40
2079	c	SPN304	Spinocerebellar Ataxia 8	38
2080	c	PSD117	Pseudohypoparathyroidism, Type Ic	37
2081	c	SPN094	Spinocerebellar Ataxia 18	37
2082	c	SPN097	Spinocerebellar Ataxia 23	36
2083	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	34
2084	c	SPN105	Spinocerebellar Ataxia 4	33
2085	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	31
2086	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	31
2087	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	30
2088	c	SPN104	Spinocerebellar Ataxia 34	29
2089	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	27
2090	c	ATS069	Autosomal Dominant Optic Atrophy Plus Syndrome	26
2091		CYS040	Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation	21
2092	P	CTS001	Cutis Laxa	58
2093	c	MTC010	Mitochondrial Dna Depletion Syndrome	37
2094	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	34
2095	c	MSC100	Muscular Dystrophy-Dystroglycanopathy , Type C, 9	33
2096	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	27
2097	c	CTS041	Cutis Laxa, Autosomal Dominant 3	26
2098	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	25
2099	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	24
2100	c	LTB003	Ltbp4-Related Cutis Laxa	18
2101	c	MSC188	Muscular Dystrophy-Dystroglycanopathy , Type C, 8	18
2102	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	59
2103	P	SPN301	Spinocerebellar Ataxia 2	59
2104	c	SPN294	Spinocerebellar Ataxia 1	57
2105	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	54
2106	c	SPN311	Spinocerebellar Ataxia 13	45
2107	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	44
2108	c	SPN101	Spinocerebellar Ataxia 29	33
2109	c	SPN096	Spinocerebellar Ataxia 21	32
2110	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	31
2111	c	SPS039	Spastic Paraplegia 5a	31
2112	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	29
2113	c	SPS091	Spastic Paraplegia 4	29
2114	c	SPS025	Spastic Paraplegia 15	29
2115	c	SPS041	Spastic Paraplegia 6	22
2116	c	SPS037	Spastic Paraplegia 31	22
2117	c	SPS038	Spastic Paraplegia 39	17
2118	c	CTS045	Cutis Laxa, Autosomal Dominant 1	48
2119	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	34
2120	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	42
2121	c	SPS031	Spastic Paraplegia 23	32
2122	c	SPS092	Spastic Paraplegia 11	30
2123	c	ATS155	Autosomal Dominant Spastic Paraplegia Type 9	27
2124	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	26
2125	c	SPS020	Spastic Paraplegia 1	25
2126	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	28
2127	c	MSC101	Muscular Dystrophy-Dystroglycanopathy , Type a, 7	27
2128	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	27
2129	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	26
2130	c	MSC105	Muscular Dystrophy-Dystroglycanopathy , Type a, 13	26
2131	c	MSC102	Muscular Dystrophy-Dystroglycanopathy , Type a, 12	26
2132	c	MSC041	Muscular Dystrophy-Dystroglycanopathy , Type a, 6	26
2133	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	25
2134	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	25
2135	c	MSC097	Muscular Dystrophy-Dystroglycanopathy , Type a, 14	24
2136	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	23
2137	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	23
2138	c	RRM004	Rrm2b-Related Mitochondrial Dna Depletion Syndrome	18
2139	c	HRD010	Hereditary Spastic Paraplegia	69
2140	P	OCL002	Oculocutaneous Albinism	58
2141	c	SPS042	Spastic Paraplegia 9	21
2142	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	56
2143	c	MSC042	Muscular Dystrophy-Dystroglycanopathy , Type B, 6	50
2144	c	MSC035	Muscular Dystrophy-Dystroglycanopathy , Type B, 5	49
2145	c	MSC048	Muscular Dystrophy-Dystroglycanopathy , Type B, 1	28
2146	c	MSC044	Muscular Dystrophy-Dystroglycanopathy , Type B, 2	27
2147	c	MSC099	Muscular Dystrophy-Dystroglycanopathy , Type B, 14	24
2148	c	MSC046	Muscular Dystrophy-Dystroglycanopathy , Type B, 3	24
2149	c	MSC038	Muscular Dystrophy-Dystroglycanopathy , Type B, 4	22
2150	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	32