Metabolic Diseases Category (2224 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	72
2	c	BDY007	Body Mass Index Quantitative Trait Locus 1	48
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	47
10	c	INH020	Inherited Metabolic Disorder	54
11	P	ABD014	Abdominal Obesity-Metabolic Syndrome 1	61
12		CRB025	Carbohydrate Metabolic Disorder	48
13		LPT014	Leptin Deficiency or Dysfunction	70
14		HYP835	Hypothalamic Obesity	43
15		LPT006	Leptin Receptor Deficiency	41
16		TNG012	Tango2-Related Metabolic Encephalopathy and Arrhythmias	16
17		NTR005	Nutritional Deficiency Disease	59
18		LPD008	Lipid Metabolism Disorder	65
19		MMS001	Momo Syndrome	29
20	P	DRG021	Drug Metabolism, Poor, Cyp2c19-Related	29
21	c	ABD013	Abdominal Obesity-Metabolic Syndrome 3	27
22		INT273	Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity	16
23		AMN002	Amino Acid Metabolic Disorder	49
24		MNT318	Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome	26
25		CHN016	Cohen Syndrome	53
26		OBS081	Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair	36
27		HYD021	Hydrocephalus Obesity Hypogonadism	16
28	P	THP004	Thiopurines, Poor Metabolism of, 1	38
29	P	SRF003	Surfactant Metabolism Dysfunction, Pulmonary, 2	36
30		CNG376	Congenital Leptin Deficiency	26
31	c	BDY020	Body Mass Index Quantitative Trait Locus 19	44
32		ANR042	Aniridia - Ptosis - Intellectual Disability - Familial Obesity	15
33		XLN122	X-Linked Intellectual Disability - Short Stature - Obesity	8
34		URC002	Urea Cycle Disorder	49
35	c	BDY019	Body Mass Index Quantitative Trait Locus 18	43
36	c	BDY017	Body Mass Index Quantitative Trait Locus 14	41
37	c	BDY006	Body Mass Index Quantitative Trait Locus 8	41
38	c	BDY012	Body Mass Index Quantitative Trait Locus 7	41
39		PHS001	Phosphorus Metabolism Disease	40
40	c	BDY005	Body Mass Index Quantitative Trait Locus 9	35
41	c	BDY015	Body Mass Index Quantitative Trait Locus 12	32
42	c	BDY010	Body Mass Index Quantitative Trait Locus 4	32
43		INB001	Inborn Amino Acid Metabolism Disorder	16
44	P	THM010	Thiamine Metabolism Dysfunction Syndrome 2	44
45	c	SRF004	Surfactant Metabolism Dysfunction, Pulmonary, 1	33
46	c	SRF005	Surfactant Metabolism Dysfunction, Pulmonary, 3	32
47	c	SRF008	Surfactant Metabolism Dysfunction, Pulmonary, 4	28
48	c	SRF007	Surfactant Metabolism Dysfunction, Pulmonary, 5	23
49		MTB008	Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration	22
50	c	THM014	Thiamine Metabolism Dysfunction Syndrome 4	22
51		MTL002	Metal Metabolism Disorder	40
52		MNR003	Mineral Metabolism Disease	39
53		SRF006	Surfactant Dysfunction	37
54		PRP098	Proprotein Convertase 1/3 Deficiency	32
55		THY064	Thyroid Hormone Metabolism, Abnormal	21
56		PYR035	Pyrimidine Metabolic Disorder	20
57		MRB006	Morbid Obesity and Spermatogenic Failure	19
58		IRN002	Iron Metabolism Disease	60
59		GLC008	Glucose Metabolism Disease	53
60		CHP002	Chops Syndrome	38
61		RPD006	Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	27
62		3HY005	3-Hydroxyacyl-Coa Dehydrogenase Deficiency	62
63		MTB004	Metabolic Acidosis	50
64		OBS037	Obesity-Hypoventilation Syndrome	50
65		ORG002	Organic Acidemia	40
66		SPS204	Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity	38
67		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	28
68		RHH001	Rohhad	28
69		HMC042	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	24
70	c	THM013	Thiamine Metabolism Dysfunction Syndrome 5	23
71		AYZ001	Ayazi Syndrome	9
72		RCK004	Rickets	66
73		MLT118	Multiple Acyl-Coa Dehydrogenase Deficiency	64
74		CMR002	Coumarin Resistance	52
75		MTC005	Mitochondrial Metabolism Disease	47
76		3HY007	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	46
77		MRS001	Marasmus	43
78		MTH021	Methylmalonic Acidemia with Homocystinuria	40
79		STR018	Steroid Inherited Metabolic Disorder	37
80		GRC001	Gracile Syndrome	33
81		MCR257	Microcephaly, Amish Type	27
82		PRN024	Purine-Pyrimidine Metabolic Disorder	23
83		HST007	Histidine Metabolism Disease	23
84		CNZ007	Coenzyme Q10 Deficiency, Primary, 2	21
85	P	MCR323	Microcephaly, Short Stature, and Impaired Glucose Metabolism 1	20
86		RTN173	Retinal Dystrophy and Obesity	18
87		OBS050	Obesity Due to Congenital Leptin Deficiency	18
88		WLM019	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome	14
89		CHL110	Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency	11
90	P	PRD006	Prader-Willi Syndrome	61
91		FRC001	Fructose-1,6-Bisphosphatase Deficiency	45
92		CLP006	Clopidogrel Resistance	45
93		IRN004	Iron-Refractory Iron Deficiency Anemia	42
94	c	BDY011	Body Mass Index Quantitative Trait Locus 10	41
95		MNT259	Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies	17
96	c	PRD028	Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15	17
97		DSR002	Disorders of Intracellular Cobalamin Metabolism	16
98		CLB031	Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	15
99	c	PRD023	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2	13
100	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	13
101	c	PRD025	Prader-Willi Syndrome Due to Imprinting Mutation	11
102		PRL046	Prolactin Deficiency with Obesity and Enlarged Testes	9
103	c	PRD042	Prader-Willi-Like Syndrome Due to a Point Mutation	7
104	c	PRD024	Prader-Willi Syndrome Due to Translocation	6
105	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	5
106		OVR113	Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis	5
107		GNT051	Genetic Non-Syndromic Obesity	4
108		CRD029	Cardiomyopathy Hypogonadism Metabolic Anomalies	2
109		GLC006	Galactosemia	65
110		LYS002	Lysosomal Storage Disease	56
111		BLR008	Bilirubin Metabolic Disorder	54
112		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	50
113		TTR005	Tetrahydrobiopterin Deficiency	48
114		OBS015	Obesity, Hyperphagia, and Developmental Delay	28
115		3HY001	3-Hydroxyisobutyric Aciduria	24
116		DVL020	Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features	21
117		GMM004	Gamma-Amino Butyric Acid Metabolism Disorder	18
118		DBT084	Diabetes Mellitus, Ketosis-Prone	60
119	c	BRD010	Bardet-Biedl Syndrome 1	59
120		ALS001	Alstrom Syndrome	57
121		APP015	Apparent Mineralocorticoid Excess	55
122		BTN003	Biotinidase Deficiency	54
123		CRB186	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to	52
124		HLC001	Holocarboxylase Synthetase Deficiency	52
125		ISV001	Isovaleric Acidemia	50
126		ALP077	Alpha-Methylacetoacetic Aciduria	45
127	c	BRD035	Bardet-Biedl Syndrome 15	42
128	P	CRB059	Cerebellar Degeneration	40
129	P	ACQ009	Acquired Metabolic Disease	35
130	c	BDY021	Body Mass Index Quantitative Trait Locus 20	30
131		DGL002	D-Glyceric Aciduria	29
132		HYP364	Hyperostosis Frontalis Interna	29
133		PLS010	Plasma Protein Metabolism Disease	27
134	c	PRM015	Primary Cerebellar Degeneration	27
135	P	PNT006	Pentosuria	23
136	c	SBC039	Subacute Cerebellar Degeneration	22
137	c	MCR316	Microcephaly, Short Stature, and Impaired Glucose Metabolism 2	22
138		BRN135	Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency	20
139		VTM003	Vitamin Metabolic Disorder	20
140	c	ESS007	Essential Pentosuria	18
141		THP001	Thiopurine S Methyltranferase Deficiency	17
142		DPL003	Diploid-Triploid Mosaicism	15
143	c	THP005	Thiopurines, Poor Metabolism of, 2	15
144		MTB009	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	12
145		MN1002	Man1b1-Cdg	10
146	c	DRG023	Drug Metabolism, Altered, Ces1-Related	10
147	P	DRG022	Drug Metabolism, Altered, Cyp2c8-Related	9
148	c	GLY008	Glycogen Storage Disease Ii	66
149	P	BRD002	Bardet-Biedl Syndrome	63
150	c	BRD014	Bardet-Biedl Syndrome 2	60
151	c	GLY005	Glycogen Storage Disease Vi	57
152	c	GLY004	Glycogen Storage Disease V	56
153	P	LDD007	Liddle Syndrome 1	55
154	P	CHR654	Charcot-Marie-Tooth Disease, Axonal, Type 2e	54
155		OVR063	Overnutrition	53
156	c	GLY011	Glycogen Storage Disease Vii	52
157	P	MGL001	Megaloblastic Anemia	51
158	c	GLY060	Glycogen Storage Disease Ia	50
159	c	BRD013	Bardet-Biedl Syndrome 12	48
160	c	BRD016	Bardet-Biedl Syndrome 4	47
161		GLY014	Glycerol Kinase Deficiency	47
162	c	CHR350	Charcot-Marie-Tooth Disease, Axonal, Type 2k	47
163		SLR001	Sialuria	44
164	c	BRD015	Bardet-Biedl Syndrome 3	43
165		MLT018	Multiple Carboxylase Deficiency	43
166		IRN008	Iron Overload in Africa	42
167	c	CHR646	Charcot-Marie-Tooth Disease, Axonal, Type 2b	42
168	c	GLY023	Glycogen Storage Disease Type 0	41
169		ACT149	Acetaminophen Metabolism	41
170		MTH078	Methylmalonic Aciduria, Cblb Type	40
171	c	GLY044	Glycogen Storage Disease Ixc	40
172	c	CHR649	Charcot-Marie-Tooth Disease, Axonal, Type 2d	39
173	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	38
174		PYR009	Pyridoxine Deficiency Anemia	37
175	c	GLY016	Glycogen Storage Disease Ib	37
176	c	CHR351	Charcot-Marie-Tooth Disease, Axonal, Type 2n	35
177	c	CHR660	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a	34
178		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	34
179	c	CHR608	Charcot-Marie-Tooth Disease, Axonal, Type 2p	34
180	c	CHR547	Charcot-Marie-Tooth Disease, Axonal, Type 2u	33
181	c	CHR626	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	33
182	c	GLY057	Glycogen Storage Disease X	33
183		MLN011	Malonyl-Coa Decarboxylase Deficiency	33
184	c	CHR352	Charcot-Marie-Tooth Disease, Axonal, Type 2f	33
185	c	CHR542	Charcot-Marie-Tooth Disease, Axonal, Type 2t	33
186	c	CHR544	Charcot-Marie-Tooth Disease, Axonal, Type 2w	33
187		2MT003	2-Methylbutyryl-Coa Dehydrogenase Deficiency	32
188	c	CHR657	Charcot-Marie-Tooth Disease, Axonal, Type 2j	32
189	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	31
190	c	CHR650	Charcot-Marie-Tooth Disease, Axonal, Type 2b1	31
191		MTH056	Methylmalonic Aciduria and Homocystinuria, Cblf Type	31
192		HWK001	Hawkinsinuria	30
193	c	GLY009	Glycogen Storage Disease Xv	30
194	c	GLY017	Glycogen Storage Disease Ic	30
195		FRC005	Fructosuria, Essential	30
196	c	CHR652	Charcot-Marie-Tooth Disease, Axonal, Type 2i	29
197	c	CHR671	Charcot-Marie-Tooth Disease, Axonal, Type 2r	29
198	c	GLY097	Glycogen Storage Disease Ixb	29
199	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	29
200	c	GLY043	Glycogen Storage Disease Xii	28
201	c	CHR651	Charcot-Marie-Tooth Disease, Axonal, Type 2b2	28
202	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	27
203	c	CHR617	Charcot-Marie-Tooth Disease, Axonal, Type 2z	27
204		SCC011	Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	27
205	c	GLY006	Glycogen Storage Disease Viii	27
206	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	26
207	c	CHR668	Charcot-Marie-Tooth Disease, Axonal, Type 2o	26
208		ANT078	Antipyrine Metabolism	25
209	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	25
210		AMN012	Aminoacidopathies	24
211	c	GLY059	Glycogen Storage Disease Xiii	24
212	c	CHR678	Charcot-Marie-Tooth Disease, Axonal, Type 2dd	23
213	c	GLY001	Glycogen Storage Disease Ix	23
214		SHR102	Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures	23
215		CLR029	Clark-Baraitser Syndrome	22
216		SCC002	Saccharopinuria	22
217	c	CHR683	Charcot-Marie-Tooth Disease, Axonal, Type 2ee	22
218	c	CHR548	Charcot-Marie-Tooth Disease, Axonal, Type 2v	22
219	c	DRG020	Drug Metabolism, Poor, Cyp2d6-Related	21
220		MTC079	Mitochondrial Pyruvate Carrier Deficiency	20
221	c	GLY093	Glycogen Storage Disease Ixa	19
222	c	BMN004	Biemond Syndrome Ii	18
223		ERY030	Erythrocyte Lactate Transporter Defect	18
224	c	ATS421	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect	17
225	c	LDD008	Liddle Syndrome 2	17
226		INT226	Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	17
227		SHR107	Short Stature-Obesity Syndrome	16
228		XLN211	X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	16
229	c	LDD009	Liddle Syndrome 3	16
230		INT298	Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	15
231	P	BMN001	Biemond Syndrome	14
232		MDF004	Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia	13
233		CMR005	Camera-Marugo-Cohen Syndrome	12
234		OBS060	Obesity Due to Sim1 Deficiency	11
235		SVR045	Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency	11
236		TGL001	Tiglic Acidemia	10
237		ANM041	Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism	7
238		OBS068	Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	7
239		OBS083	Obesity Due to Congenital Leptin Resistance	4
240		CHR069	Chronic Metabolic Polyneuropathy	4
241		HYL006	Hyaluronan Metabolism, Defect in	3
242	c	BMN003	Biemond Syndrome Type 1	3
243	P	DBT026	Diabetes Mellitus, Noninsulin-Dependent	92
244		CYS001	Cystic Fibrosis	82
245	P	PRK057	Parkinson Disease, Late-Onset	76
246	c	HMC039	Hemochromatosis, Type 1	74
247		PHN003	Phenylketonuria	74
248	P	DBT085	Diabetes Mellitus, Insulin-Dependent	73
249		ADR007	Adrenoleukodystrophy	71
250		FBR012	Fabry Disease	71
251	P	DMN001	Diamond-Blackfan Anemia	70
252	P	TYS001	Tay-Sachs Disease	69
253		SMT004	Smith-Lemli-Opitz Syndrome	68
254	P	KRB001	Krabbe Disease	67
255	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
256		LWC002	Lowe Oculocerebrorenal Syndrome	66
257	c	MCP050	Mucopolysaccharidosis, Type Ii	66
258	P	GCH001	Gaucher's Disease	66
259	c	GCH015	Gaucher Disease, Type I	65
260	c	MCL062	Mucolipidosis Ii Alpha/beta	64
261		HYP066	Hyperglycemia	64
262	P	AMY004	Amyloidosis	64
263		CRB011	Cerebrotendinous Xanthomatosis	64
264	c	CNG411	Congenital Disorder of Glycosylation, Type in	64
265	c	MCP049	Mucopolysaccharidosis, Type Vii	64
266	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	64
267		TNG002	Tangier Disease	63
268		PRP083	Porphyria, Acute Intermittent	63
269	c	MNN047	Mannosidosis, Alpha B, Lysosomal	63
270		LSC001	Lesch-Nyhan Syndrome	62
271		SDD001	Sudden Infant Death Syndrome	62
272	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	62
273		RFS006	Refsum Disease, Classic	62
274	P	GLY013	Glycogen Storage Disease	61
275	P	NMN002	Niemann-Pick Disease	61
276		ALP103	Alpha-1-Antitrypsin Deficiency	61
277	P	MTR004	Maturity-Onset Diabetes of the Young	61
278	c	GCH016	Gaucher Disease, Type Ii	61
279	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
280	P	PRP029	Porphyria	60
281		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	60
282	P	ERY058	Erythrocytosis, Familial, 1	60
283		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	60
284	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
285		LYS012	Lysosomal Acid Lipase Deficiency	60
286		WST001	West Syndrome	59
287		GLC003	Glucose Intolerance	59
288		ARG002	Argininosuccinic Aciduria	59
289	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	59
290	P	PRM002	Primary Hyperoxaluria	58
291	c	PRT132	Protoporphyria, Erythropoietic, 1	58
292	c	NMN016	Niemann-Pick Disease, Type B	58
293	c	MCL013	Mucolipidosis Iv	58
294	c	PRX045	Peroxisome Biogenesis Disorder 1b	58
295	c	CRP023	Carpenter Syndrome 1	58
296	c	GCH017	Gaucher Disease, Type Iii	58
297		HYP060	Hyperinsulinism	57
298		CTR172	Citrullinemia, Classic	57
299		PRP082	Porphyria, Congenital Erythropoietic	57
300		PRP032	Porphyria Variegata	57
301		CPR004	Coproporphyria, Hereditary	56
302	c	MCL046	Mucolipidosis Iii Alpha/beta	56
303		MTC097	Mitochondrial Complex Iv Deficiency	56
304		CHN055	Chanarin-Dorfman Syndrome	56
305	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	56
306		ASP002	Aspartylglucosaminuria	55
307	P	HYP050	Hyperinsulinemic Hypoglycemia	55
308		HYP005	Hypokalemia	55
309	c	AMY009	Amyloidosis Aa	55
310		ART002	Arts Syndrome	55
311		HRL003	Hurler Syndrome	55
312	c	ANM036	Anemia, Sideroblastic, 1	54
313		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	54
314	c	CRG004	Crigler-Najjar Syndrome, Type Ii	54
315	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	54
316	c	LBR014	Leber Congenital Amaurosis 4	54
317		MLT135	Multiple Sulfatase Deficiency	54
318		ERL001	Early Myoclonic Encephalopathy	53
319		PRT038	Protein-Energy Malnutrition	53
320	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
321		CLC006	Calcinosis	53
322		XNT003	Xanthomatosis	53
323	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	53
324	P	LPM005	Lipomatosis	53
325	P	ZLL001	Zellweger Syndrome	53
326	c	CNG027	Congenital Hemolytic Anemia	53
327	P	LCT001	Lactic Acidosis	52
328		MTC146	Mitochondrial Complex I Deficiency, Nuclear Type 1	52
329	P	PRC019	Precocious Puberty	52
330		GLC009	Glucosephosphate Dehydrogenase Deficiency	52
331	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	52
332	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	52
333		PRN011	Pernicious Anemia	52
334		HMS001	Hemosiderosis	52
335		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	52
336	P	MTC133	Mitochondrial Myopathy	52
337	c	CNT075	Central Precocious Puberty	52
338		GLC012	Galactosialidosis	52
339	P	PSD015	Pseudohypoparathyroidism	51
340		KRT002	Keratomalacia	51
341		BRT005	Barth Syndrome	51
342	c	BRD012	Bardet-Biedl Syndrome 11	51
343		PRD004	Prediabetes Syndrome	51
344	c	SPN293	Spinocerebellar Ataxia 12	51
345		NNT017	Neonatal Adrenoleukodystrophy	51
346	c	PRX059	Peroxisome Biogenesis Disorder 1a	50
347		MTC020	Mitochondrial Complex Ii Deficiency	50
348		GLC004	Galactokinase Deficiency	50
349	P	NGH001	Night Blindness	50
350		FSH001	Fish-Eye Disease	50
351	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
352		SPH010	Sphingolipidosis	50
353		HYP347	Hypotonia-Cystinuria Syndrome	50
354	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
355		DNN001	Danon Disease	50
356		HYP025	Hyperphosphatemia	49
357		HYP081	Hypolipoproteinemia	49
358		BTY001	Butyrylcholinesterase Deficiency	49
359	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	49
360	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	49
361	P	NLX004	Neu-Laxova Syndrome 1	49
362	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
363	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	49
364		HYP088	Hyper-Igd Syndrome	49
365		FRB001	Farber Lipogranulomatosis	49
366		ORT008	Orotic Aciduria	49
367	c	GM2006	Gm2 Gangliosidosis	49
368	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	48
369	c	BRD044	Bardet-Biedl Syndrome 17	48
370		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	48
371		VTM002	Vitamin B12 Deficiency	48
372	c	3MT015	3-Methylglutaconic Aciduria, Type I	48
373		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	48
374	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	48
375	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	48
376	P	TYR004	Tyrosinemia	48
377	c	ACT078	Acute Porphyria	48
378	c	SPN312	Spinocerebellar Ataxia 14	48
379		SGW002	Segawa Syndrome, Autosomal Recessive	48
380		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	48
381	c	HMC010	Hemochromatosis, Type 3	47
382	P	NNT009	Neonatal Diabetes Mellitus	47
383		DWR001	Dwarfism	47
384	P	HYP058	Hypervitaminosis a	47
385	c	HMC035	Hemochromatosis, Type 4	47
386	c	ALB019	Albinism, Oculocutaneous, Type Iv	47
387		TRN022	Transcobalamin Ii Deficiency	47
388	c	BRD032	Bardet-Biedl Syndrome 14	47
389	P	GNG009	Gangliosidosis	47
390		PHS021	Phosphoglycerate Dehydrogenase Deficiency	46
391	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	46
392		HRT031	Hartnup Disorder	46
393	c	TYR013	Tyrosinemia, Type Ii	46
394		HYD058	Hydrops, Lactic Acidosis, and Sideroblastic Anemia	46
395		PRX001	Peroxisomal Disease	46
396	c	SPN100	Spinocerebellar Ataxia 27	46
397	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
398	P	PSD003	Pseudohypoaldosteronism	46
399	c	3MT014	3-Methylglutaconic Aciduria, Type V	46
400	c	HMC009	Hemochromatosis Type 2	46
401	c	ALB015	Albinism, Oculocutaneous, Type V	46
402		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	46
403	P	MCL001	Mucolipidosis	45
404		PRS127	Pearson Marrow-Pancreas Syndrome	45
405	P	MNN018	Mannosidosis	45
406	c	BRD020	Bardet-Biedl Syndrome 8	45
407		GLC106	Glucocorticoid Resistance, Generalized	45
408	P	TRM004	Trimethylaminuria	45
409		LPP002	Lipoprotein Glomerulopathy	45
410	c	BRD033	Bardet-Biedl Syndrome 13	45
411	c	LPD019	Lipodystrophy, Partial, Acquired	44
412	P	JVN024	Juvenile Hereditary Hemochromatosis	44
413	c	BRD011	Bardet-Biedl Syndrome 10	44
414	P	MTC004	Mitochondrial Encephalomyopathy	44
415	c	BRT050	Bartter Syndrome, Type 2, Antenatal	44
416		MHR001	Mohr-Tranebjaerg Syndrome	44
417	c	SPN103	Spinocerebellar Ataxia 31	44
418	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	44
419	c	SPN308	Spinocerebellar Ataxia 28	44
420	c	BRD018	Bardet-Biedl Syndrome 6	44
421	c	TRN032	Transient Neonatal Diabetes Mellitus	44
422	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	43
423		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	43
424	c	TYR011	Tyrosinemia, Type Iii	43
425	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	43
426		NNK001	Nonaka Myopathy	43
427		RBF001	Riboflavin Deficiency	43
428		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	43
429	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	43
430	P	PLL002	Pellagra	43
431	c	HYP057	Hypervitaminosis D	43
432		GLY031	Glycoproteinosis	43
433		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	43
434		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	43
435	P	CNG003	Congenital Dyserythropoietic Anemia	42
436	c	SPN330	Spondylocostal Dysostosis 5	42
437		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	42
438	c	MCL016	Mucolipidosis Iii Gamma	42
439	c	BRD048	Bardet-Biedl Syndrome 18	42
440		DBT090	Diabetes and Deafness, Maternally Inherited	42
441	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	42
442	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	42
443	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	42
444	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	42
445	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	41
446	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	41
447	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	41
448	c	CTR130	Cataract 9, Multiple Types	41
449	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	41
450	c	HMC021	Hemochromatosis, Type 2a	41
451	c	ALB016	Albinism, Oculocutaneous, Type Vii	41
452	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	41
453	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	41
454	c	CTR098	Cataract 1, Multiple Types	41
455		TRS021	Triosephosphate Isomerase Deficiency	41
456	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	41
457	c	PNT036	Pontocerebellar Hypoplasia, Type 6	41
458		ARB001	Ariboflavinosis	41
459	c	GLY098	Glycogen Storage Disease, Type Ixd	41
460	c	ERL056	Early-Onset Parkinson's Disease	41
461	P	MTC010	Mitochondrial Dna Depletion Syndrome	41
462	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
463	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	40
464	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
465	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	40
466		PRX005	Peroxisomal Biogenesis Disorder	40
467	c	L2H001	L-2-Hydroxyglutaric Aciduria	40
468		BTN004	Biotin Deficiency	40
469		DHY011	Dihydropyrimidinase Deficiency	40
470		CHL045	Choline Deficiency Disease	40
471		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	40
472	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
473	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
474	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	40
475	P	MYG005	Myoglobinuria	40
476	P	XNT004	Xanthinuria	40
477	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	40
478		HYP236	Hyperbilirubinemia, Rotor Type	40
479	c	BRD017	Bardet-Biedl Syndrome 5	39
480	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	39
481	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	39
482		EPL131	Epilepsy, Pyridoxine-Dependent	39
483		HRL004	Hurler-Scheie Syndrome	39
484	c	PRK025	Parkinson Disease 10	39
485		CNZ001	Coenzyme Q10 Deficiency Disease	39
486		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	39
487		END028	Endemic Goiter	39
488	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
489		SLF014	Sulfite Oxidase Deficiency, Isolated	38
490	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	38
491	c	MCP051	Mucopolysaccharidosis, Type Ix	38
492	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	38
493	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	38
494		HYP550	Hypomagnesemia 1, Intestinal	38
495		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	38
496	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	38
497	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	38
498	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	38
499	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	38
500		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	38
501		NTR007	Neutral Lipid Storage Disease with Myopathy	37
502	c	MYC068	Myoclonic Epilepsy of Infancy	37
503	P	ANT061	Antenatal Bartter Syndrome	37
504	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	37
505	c	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	37
506		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	37
507	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
508	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
509	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	37
510		SLT014	Salt and Pepper Developmental Regression Syndrome	37
511		CTN011	Cutaneous Porphyria	37
512		GLY032	Glycosylphosphatidylinositol Deficiency	37
513	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
514	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	37
515	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	37
516	c	CTR103	Cataract 4, Multiple Types	37
517		ALP011	Alpha-Ketoglutarate Dehydrogenase Deficiency	37
518	P	SPS008	Spastic Ataxia	37
519	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	37
520		CHL050	Cholesterol Ester Storage Disease	36
521	c	LBR007	Leber Congenital Amaurosis 12	36
522	c	BRD045	Bardet-Biedl Syndrome 19	36
523	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	36
524	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	36
525		CHR387	Chromosome Xp21 Deletion Syndrome	36
526	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	36
527	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
528	c	CTR118	Cataract 14, Multiple Types	36
529		NCT003	N-Acetylglutamate Synthase Deficiency	36
530		MNC019	Monocarboxylate Transporter 1 Deficiency	36
531	c	LBR011	Leber Congenital Amaurosis 16	36
532	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
533		SNG007	Sengers Syndrome	36
534	c	CTR170	Cataract 30, Multiple Types	36
535	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	36
536		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	36
537	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	36
538	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	36
539	c	CTR115	Cataract 16, Multiple Types	35
540	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	35
541	c	CTR141	Cataract 21, Multiple Types	35
542	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	35
543	c	BRD047	Bardet-Biedl Syndrome 16	35
544		MTC029	Mitochondrial Complex V Deficiency, Nuclear Type 1	35
545	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	35
546		PCD001	Pica Disease	35
547	P	SPS012	Spastic Paraplegia 3a	35
548		CLS049	Classic Phenylketonuria	35
549	c	CTR122	Cataract 5, Multiple Types	35
550	c	SPN299	Spinocerebellar Ataxia 20	35
551		LGH012	Leigh Syndrome with Leukodystrophy	35
552	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	35
553	P	HYP111	Hyperprolinemia	35
554		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	35
555		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	34
556	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	34
557		KSH001	Keshan Disease	34
558		KNZ001	Kanzaki Disease	34
559	c	HRD142	Hereditary Xanthinuria	34
560	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	34
561	c	SPN247	Spinocerebellar Ataxia Type 19/22	34
562	c	CNG195	Congenital Disorder of Glycosylation, Type Id	34
563		MTC008	Mitochondrial Complex Iii Deficiency	34
564	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	34
565		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	34
566	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
567	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	34
568		FLT009	Folate Malabsorption, Hereditary	34
569		PHS022	Phosphoserine Phosphatase Deficiency	34
570	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	34
571		KLL014	Kelley-Seegmiller Syndrome	34
572	c	BRW009	Brown-Vialetto-Van Laere Syndrome 1	34
573	c	ZLL011	Zellweger Spectrum Disorder	34
574		INF159	Infantile Sialic Acid Storage Disease	33
575	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	33
576	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
577	c	HRD173	Hereditary Late-Onset Parkinson Disease	33
578	P	3MT007	3-Methylglutaconic Aciduria	33
579	c	CTR125	Cataract 7	33
580		PYR016	Pyridoxine Deficiency	33
581		SRC015	Sarcosinemia	33
582	c	DMN021	Diamond-Blackfan Anemia 6	33
583		PPC001	Pepck 1 Deficiency	33
584	c	ORT011	Orthostatic Hypotension 1	33
585	c	PRK093	Parkinson Disease 8, Autosomal Dominant	33
586	c	BRD019	Bardet-Biedl Syndrome 7	33
587		PHS014	Phosphoglycerate Kinase 1 Deficiency	33
588		INC022	Inclusion-Cell Disease	33
589	c	CTR145	Cataract 44	33
590	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
591		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	33
592	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	33
593	c	SPN099	Spinocerebellar Ataxia 26	33
594	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
595	c	SPS036	Spastic Paraplegia 3	33
596	c	CTR096	Cataract 6, Multiple Types	33
597		GBT001	Gaba-Transaminase Deficiency	33
598	c	BRT052	Bartter Syndrome, Type 1, Antenatal	32
599	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	32
600	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	32
601	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	32
602	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	32
603		CMB020	Combined Saposin Deficiency	32
604		FLC001	Folic Acid Deficiency Anemia	32
605	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	32
606	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	32
607		HSD004	Hsd10 Mitochondrial Disease	32
608	c	CNG198	Congenital Disorder of Glycosylation, Type Il	32
609	P	EPL198	Epilepsy, Myoclonic Juvenile	32
610	c	HYP716	Hypermanganesemia with Dystonia 1	32
611	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	32
612	P	BRW001	Brown-Vialetto-Van Laere Syndrome	32
613	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	32
614	c	CNG199	Congenital Disorder of Glycosylation, Type Im	32
615	c	PRX060	Peroxisome Biogenesis Disorder 5a	32
616	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	32
617	c	PRP091	Porphyria Cutanea Tarda, Type I	32
618	c	HMC034	Hemochromatosis, Type 5	32
619	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
620		PLY010	Polyclonal Hypergammaglobulinemia	31
621	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	31
622	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	31
623	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	31
624	c	CNG188	Congenital Disorder of Glycosylation, Type if	31
625	c	PRK071	Parkinson Disease 14, Autosomal Recessive	31
626	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
627	c	PSD090	Pseudohypoaldosteronism, Type Iia	31
628	c	ACQ027	Acquired Cutis Laxa	31
629		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	31
630		CRT011	Carotenemia	31
631	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	31
632	P	FRS004	Free Sialic Acid Storage Disorders	31
633	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	31
634	c	CTR158	Cataract 37	31
635		MLD010	Mild Phenylketonuria	31
636	c	MTC116	Mitochondrial Myopathy, Infantile, Transient	30
637	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	30
638	c	SPS021	Spastic Paraplegia 10	30
639	c	PRX056	Peroxisome Biogenesis Disorder 11b	30
640	c	CTR129	Cataract 31, Multiple Types	30
641	c	CTR095	Cataract 8, Multiple Types	30
642	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	30
643	c	LBR013	Leber Congenital Amaurosis 3	30
644		MTH077	Methylmalonic Aciduria, Cbla Type	30
645	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	30
646	c	SPN098	Spinocerebellar Ataxia 25	30
647	c	CTR174	Cataract 40	30
648	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	30
649		MYP097	Myopathy with Lactic Acidosis, Hereditary	30
650		PHS023	Phosphoserine Aminotransferase Deficiency	30
651	c	HRM020	Hermansky-Pudlak Syndrome 10	30
652		24D001	2,4-Dienoyl-Coa Reductase Deficiency	30
653	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	30
654		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	30
655	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	30
656	c	ATS210	Autosomal Recessive Sideroblastic Anemia	30
657	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
658	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	29
659		RBS005	Ribose 5-Phosphate Isomerase Deficiency	29
660	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	29
661		MNC004	Monoclonal Paraproteinemia	29
662	c	B4G002	B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	29
663	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
664		MCL022	Mucolipidoses	29
665	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	29
666		GLT028	Glutaric Aciduria Iii	29
667	c	TYP035	Type 1 Diabetes Mellitus 11	29
668	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	29
669	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
670	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
671	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	29
672	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
673	c	PRX050	Peroxisome Biogenesis Disorder 9b	29
674	c	PRX048	Peroxisome Biogenesis Disorder 10a	29
675		GLY078	Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency	29
676	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	29
677	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
678		GLT005	Glutamate Formiminotransferase Deficiency	29
679	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	29
680	P	ACT241	Acute Bilirubin Encephalopathy	29
681	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	29
682	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	29
683	c	LBR009	Leber Congenital Amaurosis 14	29
684	c	PRX051	Peroxisome Biogenesis Disorder 6a	29
685		PYR021	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	28
686	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	28
687		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	28
688	c	EPL210	Epilepsy, Progressive Myoclonic, 6	28
689	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
690	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	28
691		CNZ006	Coenzyme Q10 Deficiency, Primary, 1	28
692		CRT020	Cortisone Reductase Deficiency	28
693	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	28
694	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	28
695	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	28
696	c	PRX054	Peroxisome Biogenesis Disorder 12a	28
697	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
698	c	TYP037	Type 1 Diabetes Mellitus 13	28
699	c	DMN017	Diamond-Blackfan Anemia 10	28
700		LCT017	Lactate Dehydrogenase B Deficiency	28
701	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	28
702	c	SPN286	Spinocerebellar Ataxia 40	28
703	c	PNT039	Pontocerebellar Hypoplasia, Type 7	28
704	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	28
705	c	HRD186	Hereditary Spastic Paraplegia 51	28
706		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	28
707	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	28
708	c	MTC074	Metachromatic Leukodystrophy, Adult Form	28
709	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
710	c	ALB017	Albinism, Oculocutaneous, Type Vi	28
711	c	BRD021	Bardet-Biedl Syndrome 9	28
712	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
713	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	27
714	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	27
715		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	27
716	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
717	c	CTR175	Cataract 24	27
718	c	EPL155	Epilepsy, Progressive Myoclonic, 8	27
719	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	27
720		HMC001	Homocarnosinosis	27
721	c	NPH102	Nephrotic Syndrome, Type 14	27
722	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	27
723	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	27
724	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	27
725	c	DBT054	Diabetes Mellitus, Insulin-Dependent, 24	27
726	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	27
727	c	BRD050	Bardet-Biedl Syndrome 21	27
728	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	27
729	c	TYP033	Type 1 Diabetes Mellitus 7	27
730		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	27
731	c	INF122	Infantile Krabbe Disease	27
732	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	27
733		MLT150	Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia	27
734	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	27
735	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	27
736	c	CRP022	Carpenter Syndrome 2	27
737	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	27
738	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	27
739	c	SPS027	Spastic Paraplegia 17	27
740	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	27
741		GLY061	Glycogen Storage Disease 0, Muscle	27
742	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	27
743	c	PRX065	Peroxisome Biogenesis Disorder 3a	27
744	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	27
745		ACD011	Acid Phosphatase Deficiency	27
746		MTC141	Mitochondrial Complex V Deficiency, Nuclear Type 5	27
747		DMT001	Dimethylglycine Dehydrogenase Deficiency	26
748	c	PRX043	Peroxisome Biogenesis Disorder 6b	26
749		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	26
750	c	PRR026	Perrault Syndrome 5	26
751		MLD011	Mild Hyperphenylalaninemia	26
752	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	26
753	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
754		SZR018	Seizures, Scoliosis, and Macrocephaly Syndrome	26
755		VTM024	Vitamin B12-Responsive Methylmalonic Acidemia	26
756	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	26
757		CMB046	Combined Oxidative Phosphorylation Deficiency 11	26
758	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	26
759	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	26
760		PRT094	Protoporphyria, Erythropoietic, X-Linked	26
761	c	TYP028	Type 1 Diabetes Mellitus 2	26
762	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	26
763	c	TYP031	Type 1 Diabetes Mellitus 5	26
764		LKT001	Leukotriene C4 Synthase Deficiency	26
765		CMB017	Combined Oxidative Phosphorylation Deficiency 6	26
766	c	DMN022	Diamond-Blackfan Anemia 9	26
767	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	26
768		MTH013	Methylmalonate Semialdehyde Dehydrogenase Deficiency	26
769	c	PRX046	Peroxisome Biogenesis Disorder 7a	26
770	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	26
771	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	26
772	c	BRW008	Brown-Vialetto-Van Laere Syndrome 2	26
773	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	25
774	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	25
775	c	PRX057	Peroxisome Biogenesis Disorder 4a	25
776	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	25
777	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	25
778	c	SPS013	Spastic Paraplegia 8	25
779	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	25
780	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	25
781		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	25
782		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	25
783		MTC030	Mitochondrial Complex V Deficiency, Nuclear Type 3	25
784	c	DMN019	Diamond-Blackfan Anemia 4	25
785	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	25
786	c	DBT093	Diabetes Mellitus, Noninsulin-Dependent, 1	25
787	c	SPN418	Spinocerebellar Ataxia 44	25
788	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	25
789	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	25
790	c	PRK099	Parkinson Disease 18, Autosomal Dominant	25
791	c	PRX091	Peroxisome Biogenesis Disorder 8a	25
792	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	25
793	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	25
794		CMB064	Combined Oxidative Phosphorylation Deficiency 24	25
795	c	PRX058	Peroxisome Biogenesis Disorder 4b	25
796		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	25
797	c	PRX047	Peroxisome Biogenesis Disorder 5b	25
798		CMB008	Combined Oxidative Phosphorylation Deficiency	25
799		MTC025	Mitochondrial Myopathy with Diabetes	25
800	c	CTR166	Cataract 33, Multiple Types	25
801		CMB015	Combined Oxidative Phosphorylation Deficiency 4	25
802	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	25
803	c	CTR116	Cataract 15, Multiple Types	25
804	c	LBR029	Leber Congenital Amaurosis 17	25
805	c	TYP032	Type 1 Diabetes Mellitus 6	25
806		SDH011	Sedoheptulokinase Deficiency	25
807	c	SPN421	Spinocerebellar Ataxia 47	25
808	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	24
809	c	TYP036	Type 1 Diabetes Mellitus 12	24
810	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	24
811	c	EPL154	Epilepsy, Progressive Myoclonic, 9	24
812	c	PRK052	Parkinson Disease 17	24
813	c	BRD051	Bardet-Biedl Syndrome 20	24
814	c	CHR026	Charcot-Marie-Tooth Disease Type X	24
815	c	SPN102	Spinocerebellar Ataxia 30	24
816	c	DMN040	Diamond-Blackfan Anemia 16	24
817	c	CTR131	Cataract 17, Multiple Types	24
818	c	CTR181	Cataract 18	24
819	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	24
820	c	LBR010	Leber Congenital Amaurosis 15	24
821	c	EPL134	Epilepsy, Progressive Myoclonic 7	24
822		GCH010	Gaucher Disease, Atypical, Due to Saposin C Deficiency	24
823	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	24
824	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	24
825	c	HMC019	Hemochromatosis, Type 2b	24
826	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	24
827	c	TYP027	Type 1 Diabetes Mellitus 10	24
828	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	24
829		PYR018	Pyruvate Dehydrogenase Phosphatase Deficiency	24
830		MYP149	Myopathy, Mitochondrial, and Ataxia	24
831	c	EPL232	Epileptic Encephalopathy, Early Infantile, 68	24
832	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	24
833	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	24
834		SPS190	Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly	24
835	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	24
836	c	PRX052	Peroxisome Biogenesis Disorder 13a	24
837	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	24
838	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	24
839		LCT013	Lactase Deficiency, Congenital	24
840	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	24
841		CMB045	Combined Oxidative Phosphorylation Deficiency 19	24
842	c	DMN024	Diamond-Blackfan Anemia 7	24
843		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	24
844	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	24
845	c	SPN323	Spinocerebellar Ataxia 41	24
846	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	24
847	c	SPS023	Spastic Paraplegia 13	24
848	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	24
849	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	24
850		MYP099	Myopathy, Isolated Mitochondrial, Autosomal Dominant	24
851		PYR025	Pyruvate Dehydrogenase E2 Deficiency	24
852	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	24
853	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	24
854	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	24
855		3HY011	3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	24
856		CMB044	Combined Oxidative Phosphorylation Deficiency 14	23
857	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	23
858	c	TYP038	Type 1 Diabetes Mellitus 15	23
859		HYP719	Hyperglycinemia, Lactic Acidosis, and Seizures	23
860	c	PRK070	Parkinson Disease 21	23
861	c	EPL234	Epileptic Encephalopathy, Early Infantile, 70	23
862	c	CTR124	Cataract 10, Multiple Types	23
863		MTC181	Mitochondrial Dna-Related Progressive External Ophthalmoplegia	23
864	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	23
865	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	23
866	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	23
867	c	HYP597	Hyperprolinemia, Type Ii	23
868		CRT065	Cortisone Reductase Deficiency 1	23
869	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	23
870	c	PRX062	Peroxisome Biogenesis Disorder 8b	23
871	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	23
872	c	JVN058	Juvenile-Onset Parkinson's Disease	23
873	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	23
874	c	CTR180	Cataract 22, Multiple Types	23
875	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	23
876	c	CTR165	Cataract 19, Multiple Types	23
877		LPY002	Lipoyltransferase 1 Deficiency	23
878	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	23
879	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	23
880	c	SPN259	Spinocerebellar Ataxia 32	23
881	P	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	23
882	c	HYP713	Hypermanganesemia with Dystonia 2	23
883		CPP004	Copper Deficiency Myelopathy	23
884	c	CTR119	Cataract 32, Multiple Types	23
885	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	23
886	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	23
887	c	ANM034	Anemia, Sideroblastic, 4	23
888		CRT066	Cortisone Reductase Deficiency 2	23
889		MRC009	Mercaptolactate-Cysteine Disulfiduria	23
890	c	PRC047	Precocious Puberty, Central, 1	23
891	c	DBT038	Diabetes Mellitus, Insulin-Dependent, 5	23
892	c	EPL233	Epileptic Encephalopathy, Early Infantile, 69	23
893	c	DMN006	Diamond-Blackfan Anemia 3	23
894	c	CTR105	Cataract 12, Multiple Types	23
895	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	23
896	c	DMN020	Diamond-Blackfan Anemia 8	23
897	c	DMN005	Diamond-Blackfan Anemia 2	22
898	c	PRR021	Perrault Syndrome 4	22
899	c	DMN018	Diamond-Blackfan Anemia 5	22
900	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	22
901		CMB065	Combined Oxidative Phosphorylation Deficiency 26	22
902	c	SPN419	Spinocerebellar Ataxia 45	22
903	c	HYP564	Hypocalcemia, Autosomal Dominant 2	22
904		CMB016	Combined Oxidative Phosphorylation Deficiency 5	22
905		CMB018	Combined Oxidative Phosphorylation Deficiency 7	22
906	c	EPL188	Epilepsy, Progressive Myoclonic, 10	22
907	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	22
908	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	22
909		TRH001	Trehalase Deficiency	22
910	c	CTR184	Cataract 39, Multiple Types	22
911		CMB043	Combined Oxidative Phosphorylation Deficiency 9	22
912		MTH040	Methylmalonyl-Coa Epimerase Deficiency	22
913		MTC137	Mitochondrial Complex V Deficiency, Nuclear Type 4	22
914	c	SPS028	Spastic Paraplegia 18	22
915	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	22
916		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	22
917		MTC115	Mitochondrial Myopathy, Lethal, Infantile	22
918	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	22
919	c	DBT034	Diabetes Mellitus, Insulin-Dependent, 20	22
920		HYP690	Hyper-Beta-Alaninemia	22
921	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	22
922	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	22
923	c	DMN029	Diamond-Blackfan Anemia 11	22
924	c	SPN107	Spinocerebellar Ataxia 9	22
925		CMB049	Combined Oxidative Phosphorylation Deficiency 17	22
926		CMB013	Combined Oxidative Phosphorylation Deficiency 2	22
927	c	SPS034	Spastic Paraplegia 26	22
928		MTC087	Mitochondrial Complex Iii Deficiency, Nuclear Type 4	22
929	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	22
930		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	22
931		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	22
932		CNZ011	Coenzyme Q10 Deficiency, Primary, 8	22
933	c	HYP510	Hyperekplexia 2	21
934	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	21
935	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	21
936		CMB048	Combined Oxidative Phosphorylation Deficiency 15	21
937	c	CTR097	Cataract 34, Multiple Types	21
938	c	CTR182	Cataract 23, Multiple Types	21
939	c	DBT082	Diabetes Mellitus, Insulin-Dependent, 12	21
940	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	21
941	c	PRC046	Precocious Puberty, Central, 2	21
942	c	HYP825	Hyperekplexia 4	21
943		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	21
944	c	TYP039	Type 1 Diabetes Mellitus 17	21
945	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	21
946		SRN001	Serine Deficiency	21
947	c	PSD094	Pseudohypoaldosteronism, Type Iib	21
948	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	21
949	c	PRX068	Peroxisome Biogenesis Disorder 7b	21
950		ISL116	Isolated Complex Iii Deficiency	21
951	c	DBT094	Diabetes Mellitus, Insulin-Dependent, 10	21
952	c	CTR111	Cataract 36	21
953		CMB082	Combined Oxidative Phosphorylation Deficiency 33	21
954	c	CTR136	Cataract 41	21
955		PLY114	Polyglucosan Body Myopathy 2	21
956	c	PNT052	Pontocerebellar Hypoplasia, Type 12	21
957	c	PRX066	Peroxisome Biogenesis Disorder 3b	21
958	c	PRK094	Parkinson Disease 11, Autosomal Dominant	21
959	c	PRX089	Peroxisome Biogenesis Disorder 10b	21
960	c	SPS022	Spastic Paraplegia 12	20
961		PHS029	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	20
962	c	PRK083	Parkinson Disease 22, Autosomal Dominant	20
963		CMB071	Combined Oxidative Phosphorylation Deficiency 27	20
964		LPD042	Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency	20
965	c	CTR183	Cataract 38	20
966		GLY094	Glycine Encephalopathy with Normal Serum Glycine	20
967	c	SPN431	Spinocerebellar Ataxia, Autosomal Recessive 27	20
968		MTC095	Mitochondrial Complex Iii Deficiency, Nuclear Type 7	20
969		HMC036	Homocystinuria Without Methylmalonic Aciduria	20
970	c	MLT167	Multiple Mitochondrial Dysfunctions Syndrome 6	20
971	c	DMN028	Diamond-Blackfan Anemia 12	20
972		URC006	Urocanase Deficiency	20
973	c	XLN227	X-Linked Chondrodysplasia Punctata 1	20
974	c	XLN229	X-Linked Chondrodysplasia Punctata 2	20
975		CRN042	Carnosinemia	20
976	P	PRX064	Peroxisome Biogenesis Disorder 2b	20
977	c	DMN039	Diamond-Blackfan Anemia 17	20
978		CMB077	Combined Oxidative Phosphorylation Deficiency 30	20
979		CRB137	Cerebral Creatine Deficiency Syndrome	20
980	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	20
981	c	CTR159	Cataract 35	20
982	c	SPS032	Spastic Paraplegia 24	20
983	c	HRD210	Hereditary Spastic Paraplegia 23	20
984	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	20
985	c	CHR147	Charcot-Marie-Tooth Disease Type 2k	20
986		CMB052	Combined Oxidative Phosphorylation Deficiency 20	20
987	P	HYP821	Hypermanganesemia with Dystonia	20
988	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	20
989	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	20
990	c	CTR185	Cataract 30	20
991		CMB079	Combined Oxidative Phosphorylation Deficiency 29	20
992	c	PRM150	Primary Localized Amyloidosis	20
993	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	20
994	c	SPS029	Spastic Paraplegia 19	20
995		CMB051	Combined Oxidative Phosphorylation Deficiency 21	20
996		ISL082	Isolated Atp Synthase Deficiency	19
997	c	DMN030	Diamond-Blackfan Anemia 13	19
998	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	19
999		MTC098	Mitochondrial Complex Iii Deficiency, Nuclear Type 9	19
1000	c	PRR022	Perrault Syndrome 2	19
1001		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	19
1002	c	PRK096	Parkinson Disease 13, Autosomal Dominant	19
1003	c	PRK098	Parkinson Disease 5, Autosomal Dominant	19
1004	c	PSD068	Pseudohypoaldosteronism, Type Iic	19
1005		CMB076	Combined Oxidative Phosphorylation Deficiency 31	19
1006		CNZ004	Coenzyme Q10 Deficiency, Primary, 3	19
1007	c	CTR106	Cataract 20, Multiple Types	19
1008	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	19
1009		CMB063	Combined Oxidative Phosphorylation Deficiency 25	19
1010	c	SPS033	Spastic Paraplegia 25	19
1011	c	SPS035	Spastic Paraplegia 29	19
1012	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	19
1013	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	19
1014	c	DBT056	Diabetes Mellitus, Insulin-Dependent, 4	19
1015	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	19
1016	c	EPL217	Epilepsy, Juvenile Myoclonic 10	19
1017	c	TRN053	Transient Pseudohypoaldosteronism	19
1018		MTC090	Mitochondrial Complex Iii Deficiency, Nuclear Type 6	19
1019	c	CTR163	Cataract 46, Juvenile-Onset	19
1020		HYP722	Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	19
1021	c	SPS080	Spastic Paraplegia 51	19
1022	c	PRK022	Parkinson Disease 12	19
1023	c	EPL238	Epileptic Encephalopathy, Early Infantile, 73	19
1024	c	CTR121	Cataract 25	19
1025	c	HYP519	Hyperekplexia 3	19
1026	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	19
1027	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	19
1028	c	CTR110	Cataract 26, Multiple Types	19
1029	c	PRK058	Parkinson Disease 16	18
1030	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	18
1031	c	DRY002	Dry Beriberi	18
1032	c	SPS026	Spastic Paraplegia 16	18
1033	c	SPN121	Spondylocostal Dysostosis 1	18
1034		TRN067	Transcobalamin I Deficiency	18
1035	c	TYP040	Type 1 Diabetes Mellitus 18	18
1036	c	LRR001	Lrrk2-Related Parkinson Disease	18
1037	c	SPS161	Spastic Paraplegia 32	18
1038	c	EPL239	Epileptic Encephalopathy, Early Infantile, 74	18
1039		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	18
1040	c	DBT059	Diabetes Mellitus, Insulin-Dependent, 8	18
1041	c	CTR144	Cataract 43	18
1042		GLT036	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to	18
1043	c	CTR157	Cataract 28	18
1044	c	CTR139	Cataract 42	18
1045	c	HRD188	Hereditary Spastic Paraplegia 72	18
1046		PRM123	Paramyloidosis	18
1047	c	PRR033	Perrault Syndrome 6	18
1048	c	CTR160	Cataract 45	18
1049	c	EFM001	Efemp2-Related Cutis Laxa	18
1050	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	18
1051	c	DBT033	Diabetes Mellitus, Noninsulin-Dependent, 2	18
1052		CMB085	Combined Oxidative Phosphorylation Deficiency 35	18
1053	c	EPL237	Epileptic Encephalopathy, Early Infantile, 72	18
1054	c	DMN047	Diamond-Blackfan Anemia 18	18
1055	c	MYC086	Myoclonic Epilepsy, Juvenile 4	17
1056	c	SPS024	Spastic Paraplegia 14	17
1057		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	17
1058	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	17
1059		NMN008	Niemann-Pick Disease Type C, Severe Perinatal Form	17
1060	c	CTR178	Cataract 27	17
1061	c	DWL004	Dowling-Degos Disease 4	17
1062		2MN001	2-Aminoadipic 2-Oxoadipic Aciduria	17
1063	c	GLT029	Glutaric Acidemia Type Iii	17
1064	c	TYP029	Type 1 Diabetes Mellitus 3	17
1065		GLY085	Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency	17
1066		HYD031	Hydroxyprolinemia	17
1067		MLT155	Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	17
1068		CRB155	Carbonic Anhydrase Va Deficiency	17
1069	c	DBT057	Diabetes Mellitus, Insulin-Dependent, 6	17
1070	c	DBT055	Diabetes Mellitus, Insulin-Dependent, 3	17
1071	c	DBT049	Diabetes Mellitus, Insulin-Dependent, 13	17
1072		WTB001	Wet Beriberi	17
1073	c	CTR025	Cataract, Total Congenital	17
1074	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	17
1075	c	EPL186	Epilepsy, Juvenile Myoclonic 9	16
1076	c	AHM002	Ah Amyloidosis	16
1077	c	TYP030	Type 1 Diabetes Mellitus 4	16
1078	c	DBT058	Diabetes Mellitus, Insulin-Dependent, 7	16
1079		ATY025	Atypical Glycine Encephalopathy	16
1080	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	16
1081	c	EXS021	Exostoses, Multiple, Type Iii	16
1082	c	DMN045	Diamond-Blackfan Anemia-Like	16
1083	c	MYG006	Myoglobinuria, Autosomal Dominant	16
1084		MTC089	Mitochondrial Complex Iii Deficiency, Nuclear Type 3	16
1085	c	TYS005	Tay-Sachs Disease, B1 Variant	16
1086	c	PRT135	Protoporphyria, Erythropoietic, 2	16
1087	c	CTR187	Cataract 48	16
1088		GNT042	Genetic Recurrent Myoglobinuria	16
1089	c	DMN048	Diamond-Blackfan Anemia 19	16
1090		MLT154	Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type	16
1091	c	DBT048	Diabetes Mellitus, Insulin-Dependent, 11	15
1092		LYS024	Lysosomal and Lipase Deficiency	15
1093	c	DBT050	Diabetes Mellitus, Insulin-Dependent, 15	15
1094	c	DMN049	Diamond-Blackfan Anemia 20	15
1095	c	MTC014	Mitochondrial Dna Deletion Syndromes	15
1096	c	DBT032	Diabetes Mellitus, Insulin-Dependent, 22	15
1097		VLN001	Valinemia	15
1098	c	TYP034	Type 1 Diabetes Mellitus 8	15
1099		ATS112	Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity	15
1100	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	15
1101	c	CHR143	Charcot-Marie-Tooth Disease Type 2g	15
1102		HYD055	Hydroxylysinuria	15
1103	c	SPS040	Spastic Paraplegia 5b	15
1104	c	DBT077	Diabetes Mellitus, Insulin-Dependent, 19	15
1105	c	INF047	Infantile Free Sialic Acid Storage Disease	14
1106		PRM138	Pure Mitochondrial Myopathy	14
1107		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	14
1108	c	SPS230	Spastic Paraplegia Type 49	14
1109	c	CTR128	Cataract 33	14
1110		MTH068	Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect	14
1111	c	DBT086	Diabetes Mellitus, Noninsulin-Dependent, 5	14
1112		MTH003	Methylmalonic Aciduria and Homocystinuria Type Cble	14
1113		MTH002	Methylmalonic Aciduria and Homocystinuria Type Cblg	14
1114	c	TFR001	Tfr2-Related Hereditary Hemochromatosis	14
1115	c	DBT079	Diabetes Mellitus, Insulin-Dependent, 21	14
1116	c	DBT053	Diabetes Mellitus, Insulin-Dependent, 23	14
1117	c	MYC085	Myoclonic Epilepsy, Juvenile 3	14
1118	c	DBT052	Diabetes Mellitus, Insulin-Dependent, 18	14
1119	c	DBT051	Diabetes Mellitus, Insulin-Dependent, 17	14
1120	c	PSD023	Pseudo-Gaucher Disease	14
1121		GNR029	Generalized Galactose Epimerase Deficiency	14
1122	c	PRM209	Primary Trimethylaminuria	13
1123	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	13
1124	c	SPS165	Spastic Paraplegia 47	13
1125		DBS003	Dibasic Amino Aciduria I	13
1126		ZLL010	Zellweger-Like Syndrome Without Peroxisomal Anomalies	13
1127	c	SPR097	Sporadic Hyperekplexia	13
1128	c	DWL005	Dowling-Degos Disease 3	13
1129		ATS233	Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	13
1130		PHS019	Phosphohydroxylysinuria	13
1131	c	SPN122	Spondylocostal Dysostosis 2	13
1132	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	12
1133	c	SPN123	Spondylocostal Dysostosis 3	12
1134	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	12
1135	c	ACQ002	Acquired Night Blindness	12
1136	c	B3G001	B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	12
1137	c	GRD008	Grid2-Related Spinocerebellar Ataxia	12
1138	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	12
1139		HYP485	Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency	11
1140	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	11
1141	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	11
1142	c	DBT097	Diabetes Mellitus, Noninsulin-Dependent, 4	11
1143	c	MTH069	Methylmalonic Acidemia Due to Transcobalamin Receptor Defect	11
1144	c	SPS214	Spastic Ataxia 4	11
1145	c	SPS171	Spastic Ataxia 5	11
1146	c	GM2001	Gm2 Gangliosidosis, 0 Variant	11
1147	c	DBT095	Diabetes Mellitus, Noninsulin-Dependent, 3	11
1148		CHR474	Chronic Diarrhea Due to Glucoamylase Deficiency	11
1149	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
1150	c	SPN124	Spondylocostal Dysostosis 4	11
1151	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	10
1152		GLY074	Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset	10
1153		ERY041	Erythrocyte Galactose Epimerase Deficiency	10
1154		FLN005	Folinic Acid-Responsive Seizures	10
1155	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	10
1156	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	10
1157	c	DNJ004	Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	10
1158	c	SPS162	Spastic Ataxia 1	10
1159	c	SPS163	Spastic Ataxia 3	10
1160		GLY052	Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset	10
1161	c	LTN017	Late-Infantile/juvenile Krabbe Disease	10
1162	c	SCN047	Secondary Pulmonary Hemosiderosis	10
1163	c	ACT189	Acute Neonatal Citrullinemia Type I	10
1164		ERY024	Erythropoietic Uroporphyria Associated with Myeloid Malignancy	10
1165		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
1166		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	10
1167		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
1168	c	SCN039	Secondary Central Precocious Puberty	9
1169	c	INT094	Intermediate Severe Salla Disease	9
1170		ATS405	Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction	9
1171	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	9
1172	c	SPS170	Spastic Ataxia 2	9
1173	c	TYS006	Tay-Sachs Disease, B Variant, Adult Form	9
1174	c	FBL003	Fbln5-Related Cutis Laxa	9
1175	c	ADL071	Adult Krabbe Disease	9
1176	c	LCT020	Lactic Acidosis, Chronic Adult Form	9
1177	c	ADL083	Adult-Onset Citrullinemia Type I	9
1178	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	9
1179	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	9
1180	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	9
1181		MNM005	Minimal Pigment Oculocutaneous Albinism Type 1	8
1182	c	SPS172	Spastic Ataxia 7	8
1183	c	CHR572	Charcot-Marie-Tooth Disease Type 7	8
1184	c	SPS229	Spastic Ataxia 8	8
1185	c	EPL009	Epilepsy Progressive Myoclonic Type 3	8
1186	c	CTR008	Cataract Congenital Autosomal Dominant	8
1187	c	ALP056	Alpha-Mannosidosis, Adult Form	8
1188	c	ALP055	Alpha-Mannosidosis, Infantile Form	8
1189	c	DBT096	Diabetes Mellitus, Congenital Autoimmune	8
1190	P	TTL001	Total Internal Ophthalmoplegia	8
1191		DRR012	Diarrhea, Chronic, with Villous Atrophy	7
1192	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	7
1193	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	7
1194	P	JVN036	Juvenile Sialidosis Type 2	7
1195	c	CNG348	Congenital Sialidosis Type 2	7
1196		CNG299	Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance	7
1197		CNG300	Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance	7
1198		THM026	Thiamine Deficiency Disease	7
1199		CNG301	Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance	7
1200		CNG304	Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance	7
1201		TRN049	Transient Tyrosinemia of the Newborn	7
1202	c	SJG003	Sjogren-Larsson-Like Syndrome	7
1203	P	ERY016	Erythropoietic Protoporphyria, Autosomal Recessive	7
1204	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	7
1205		CNG305	Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance	7
1206		TTR020	Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria	7
1207		RNN007	Reunion Island Larsen-Like Syndrome	7
1208	c	VPS003	Vps35-Related Parkinson Disease	6
1209		DBT003	Diabetic Peripheral Angiopathy	6
1210		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	6
1211		TRN050	Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency	6
1212	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	6
1213	c	ATS408	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3	6
1214	P	SYC001	Say Carpenter Syndrome	5
1215		XYL001	Xylt1-Cdg	5
1216		CRB012	Cerebral Folate Receptor Alpha Deficiency	5
1217	c	FST011	Fastkd2-Related Infantile Mitochondrial Encephalomyopathy	5
1218		MTC180	Mitochondrial Dna-Related Dystonia	5
1219	c	LCT010	Lactic Acidosis Congenital Infantile	5
1220		ISL027	Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type	5
1221	c	MYG002	Myoglobinuria Dominant Form	5
1222		HRD143	Hereditary Hypercarotenemia and Vitamin a Deficiency	4
1223	c	HMC018	Homocystinuria Due to Defect in Methylation Cbl G	4
1224	c	HMC017	Homocystinuria Due to Defect in Methylation Cbl E	4
1225		ADN058	Adenylosuccinase Lyase Deficiency	3
1226		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	56
1227		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	48
1228		KWS001	Kwashiorkor	46
1229	P	GLT035	Glutaric Acidemia I	46
1230		3HY010	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	27
1231		CRN295	Carnitine Palmitoyltransferase I Deficiency	54
1232		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	53
1233		ADN024	Adenine Phosphoribosyltransferase Deficiency	49
1234	P	TRC086	Trichohepatoenteric Syndrome 1	60
1235		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	57
1236	P	MNN019	Mannosidosis, Beta a, Lysosomal	52
1237		HST006	Histidinemia	44
1238	c	TRC078	Trichohepatoenteric Syndrome 2	35
1239		MTC026	Mitochondrial Myopathy with Lactic Acidosis	27
1240		NTR002	Nutritional Optic Neuropathy	17
1241		EFV001	Efavirenz, Poor Metabolism of	14
1242	P	PLY011	Polycystic Ovary Syndrome	64
1243		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	62
1244	c	GLY003	Glycogen Storage Disease Iii	61
1245	c	FTT008	Fatty Liver Disease, Nonalcoholic 1	60
1246		FRC011	Fructose Intolerance, Hereditary	60
1247		CRN296	Carnitine Palmitoyltransferase Ii Deficiency, Infantile	60
1248		GLY010	Glycine Encephalopathy	57
1249	P	NNL004	Nonalcoholic Fatty Liver Disease	56
1250		CRN239	Carnitine Deficiency, Systemic Primary	54
1251		CHY002	Chylomicron Retention Disease	54
1252	c	PSD066	Pseudohypoparathyroidism, Type Ib	53
1253		ARM002	Aromatic L-Amino Acid Decarboxylase Deficiency	52
1254		LYS003	Lysinuric Protein Intolerance	51
1255		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	49
1256		CRB045	Cerebellar Hypoplasia	49
1257		GLC011	Galactose Epimerase Deficiency	49
1258		ENC055	Encephalopathy, Ethylmalonic	48
1259		ULN003	Ulnar-Mammary Syndrome	48
1260	c	MGL018	Megaloblastic Anemia 1	47
1261		ADP001	Adiposis Dolorosa	46
1262	c	PLY105	Polycystic Ovary Syndrome 1	42
1263	c	XNT010	Xanthinuria, Type I	41
1264		ADN022	Adenylosuccinase Deficiency	40
1265	c	PSD117	Pseudohypoparathyroidism, Type Ic	40
1266	P	HYP769	Hyperlysinemia, Type I	39
1267		INT088	Intrinsic Factor Deficiency	35
1268		CNG016	Congenital Intrinsic Factor Deficiency	35
1269		FMR004	Fumarase Deficiency	35
1270		ASP024	Asparagine Synthetase Deficiency	34
1271	c	XNT011	Xanthinuria, Type Ii	34
1272	c	PSD104	Pseudohypoparathyroidism, Type Ii	34
1273		LGH003	Leigh Syndrome, French Canadian Type	29
1274	P	HYP658	Hypoplastic Amelogenesis Imperfecta	27
1275		MTC108	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	26
1276		BTN005	Biotin-Thiamine-Responsive Basal Ganglia Disease	24
1277	c	AML006	Amelogenesis Imperfecta Hypoplastic Type, Ig	22
1278	c	FTT007	Fatty Liver Disease, Nonalcoholic 2	13
1279		MPL011	Maple Syrup Urine Disease, Mild Variant	13
1280	P	LVR013	Liver Disease	76
1281		LPD012	Lipoid Congenital Adrenal Hyperplasia	71
1282	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	68
1283		SCH036	Scheie Syndrome	67
1284		ISC004	Ischemia	67
1285	c	NMN015	Niemann-Pick Disease, Type C1	67
1286		LGH007	Leigh Syndrome	67
1287	P	DBT009	Diabetes Mellitus	67
1288		FTT001	Fatty Liver Disease	66
1289	P	HYP086	Hypothyroidism	66
1290		ETN001	Eating Disorder	65
1291	P	HML002	Hemolytic Anemia	64
1292		HYP056	Hypoglycemia	64
1293		CYS013	Cystinuria	64
1294	P	HYP724	Hyperlipoproteinemia, Type Iii	63
1295	c	MCP001	Mucopolysaccharidosis Iii	63
1296	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	63
1297		GST033	Gestational Diabetes	63
1298	P	NPH012	Nephrotic Syndrome	63
1299	c	MSC036	Muscular Dystrophy-Dystroglycanopathy , Type C, 5	62
1300	c	MCP052	Mucopolysaccharidosis, Type Vi	61
1301		NRM019	Neuraminidase Deficiency	60
1302		PRP001	Propionic Acidemia	60
1303	P	MLG056	Malignant Hyperthermia	60
1304		DBT083	Diabetes Mellitus, Permanent Neonatal	60
1305	P	NRN021	Neuronal Ceroid Lipofuscinosis	60
1306	P	CTR002	Cataract	59
1307	c	MCP004	Mucopolysaccharidosis Iv	59
1308	P	FCS002	Fucosidosis	59
1309		LNN001	Lennox-Gastaut Syndrome	59
1310	c	CNG006	Congenital Hypothyroidism	59
1311		ORN008	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	58
1312		PYR041	Pyruvate Kinase Deficiency of Red Cells	58
1313	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	58
1314	c	GM1007	Gm1 Gangliosidosis	58
1315		GST037	Gastroparesis	57
1316	P	PRM051	Primary Pigmented Nodular Adrenocortical Disease	57
1317		VTM027	Vitamin D-Dependent Rickets, Type 2a	56
1318		DBF001	D-Bifunctional Protein Deficiency	56
1319		IRN001	Iron Deficiency Anemia	55
1320	P	HYP614	Hyperlipidemia, Familial Combined	55
1321		DBN001	Dubin-Johnson Syndrome	55
1322		HYP014	Hyperuricemia	55
1323		MTC027	Mitochondrial Trifunctional Protein Deficiency	55
1324	P	LMB006	Limb-Girdle Muscular Dystrophy	55
1325		PPL049	Papillon-Lefevre Syndrome	54
1326	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	54
1327		HYP052	Hyperkalemic Periodic Paralysis	54
1328	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
1329		MCR004	Macroglobulinemia	54
1330		HYP732	Hyperalphalipoproteinemia 1	53
1331		CNV004	Canavan Disease	53
1332	P	BRT004	Bartter Disease	53
1333		CYS010	Cystinosis	53
1334	c	ACT134	Acute Liver Failure	53
1335		HMC014	Homocysteinemia	53
1336	c	MSC170	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	53
1337	P	HYP818	Hypobetalipoproteinemia, Familial, 1	53
1338	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	53
1339		VTM028	Vitamin E, Familial Isolated Deficiency of	52
1340	c	HYP740	Hyperlipoproteinemia, Type V	52
1341		LPD009	Lipid Storage Disease	52
1342	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
1343		SNS008	Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis	52
1344	P	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	52
1345	P	SLL003	Salla Disease	52
1346		CLC001	Calciphylaxis	52
1347	P	FML012	Familial Partial Lipodystrophy	52
1348	P	SHR001	Short Bowel Syndrome	52
1349	c	DWL002	Dowling-Degos Disease 1	52
1350	c	HRM017	Hermansky-Pudlak Syndrome 2	51
1351	c	ALB020	Albinism, Oculocutaneous, Type Iii	51
1352	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	51
1353	c	LPD021	Lipodystrophy, Familial Partial, Type 3	51
1354		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	51
1355	P	FML035	Familial Hyperlipidemia	51
1356		OCC006	Occipital Horn Syndrome	51
1357		GYR004	Gyrate Atrophy of Choroid and Retina	50
1358		CYS036	Cystinosis, Nephropathic	50
1359	c	NPH055	Nephrotic Syndrome, Type 1	50
1360		HYP781	Hypoascorbemia	50
1361	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	49
1362	c	GM2005	Gm2-Gangliosidosis, Ab Variant	49
1363	P	ERL057	Early Infantile Epileptic Encephalopathy	49
1364		FML026	Familial Lipoprotein Lipase Deficiency	49
1365		WRN003	Wernicke Encephalopathy	49
1366		HYP017	Hypophosphatemia	49
1367	c	HYP739	Hyperlipoproteinemia, Type Iv	49
1368	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	48
1369	c	HYP331	Hyperphenylalaninemia, Bh4-Deficient, a	48
1370	c	MSC169	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	48
1371	P	D2H002	D-2-Hydroxyglutaric Aciduria 1	48
1372		HMZ003	Homozygous Familial Hypercholesterolemia	48
1373		ALB002	Albinism	48
1374		DYS161	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency	47
1375		PYC001	Pycnodysostosis	47
1376	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	47
1377		VTM033	Vitamin K Deficiency Bleeding	47
1378	c	INF145	Infantile Liver Failure Syndrome 1	47
1379	P	MTH008	Methylmalonic Acidemia	47
1380	c	EXS019	Exostoses, Multiple, Type I	47
1381	P	LCT002	Lactose Intolerance	47
1382	c	HYP768	Hyperlipoproteinemia, Type I	47
1383		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	47
1384	c	HYP396	Hypercholesterolemia, Autosomal Recessive	47
1385	c	CHR095	Chronic Progressive External Ophthalmoplegia	47
1386		PRP056	Porphyria, Acute Hepatic	47
1387	P	BRB001	Beriberi	46
1388		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	46
1389		ATX029	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	46
1390		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	46
1391		HPT025	Hepatic Lipase Deficiency	46
1392	P	DWL001	Dowling-Degos Disease	46
1393	c	MSC173	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	46
1394	c	LBR004	Leber Congenital Amaurosis 1	46
1395	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	46
1396		CRB150	Cerebral Creatine Deficiency Syndrome 2	45
1397		FML036	Familial Periodic Paralysis	45
1398		DPM001	Dopamine Beta-Hydroxylase Deficiency	45
1399	c	RNL046	Renal Tubular Acidosis, Distal, Autosomal Dominant	45
1400	P	HRD001	Hereditary Multiple Exostoses	45
1401	c	HYP794	Hyperoxaluria, Primary, Type I	45
1402	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	45
1403	c	MSC172	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	45
1404	P	RNL045	Renal Tubular Acidosis, Distal	45
1405	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	44
1406	c	MCP047	Mucopolysaccharidosis, Type Iva	44
1407	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
1408		SVR095	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency	44
1409	P	PLM085	Pulmonary Hemosiderosis	44
1410	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	44
1411		GLC022	Glucose/galactose Malabsorption	44
1412	c	BRT042	Bartter Syndrome, Type 3	44
1413	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	44
1414		IMN001	Iminoglycinuria	43
1415		HMC041	Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity	43
1416	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	43
1417	P	PNT019	Pontocerebellar Hypoplasia	43
1418	c	HYP290	Hypobetalipoproteinemia, Familial, 2	43
1419	c	LPD040	Lipodystrophy, Familial Partial, Type 1	43
1420	c	MSC103	Muscular Dystrophy-Dystroglycanopathy , Type C, 4	42
1421	c	MSC174	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	42
1422	P	CNG436	Congenital Disorder of Deglycosylation	42
1423	c	LBR019	Leber Congenital Amaurosis 9	42
1424		CYS019	Cystathioninuria	42
1425		GLY015	Glycine N-Methyltransferase Deficiency	42
1426	P	HYP776	Hyperparathyroidism, Neonatal Severe	42
1427		PLY052	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	42
1428		GLY081	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency	42
1429	P	KLF001	Kleefstra Syndrome	42
1430	c	NPH049	Nephrotic Syndrome, Type 2	42
1431		MCP033	Mucopolysaccharidoses	41
1432		CRB148	Cerebral Creatine Deficiency Syndrome 3	41
1433	c	MLG147	Malignant Hyperthermia 1	41
1434	c	ALB024	Albinism, Ocular, Type I	41
1435	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	41
1436	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	41
1437	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	41
1438		HYP815	Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome	40
1439	c	PNT010	Pontocerebellar Hypoplasia Type 1	40
1440	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	40
1441		MTC111	Mitochondrial Neurogastrointestinal Encephalomyopathy	40
1442		HYP003	Hypermethioninemia	40
1443	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	40
1444	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	40
1445	c	ATS279	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	40
1446	c	ATS331	Autosomal Recessive Limb-Girdle Muscular Dystrophy	40
1447		MTR082	Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction	40
1448	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	40
1449	c	MSC171	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	39
1450	c	MSC108	Muscular Dystrophy-Dystroglycanopathy , Type C, 2	39
1451	c	HRM011	Hermansky-Pudlak Syndrome 8	39
1452		MTH074	Methionine Adenosyltransferase I/iii Deficiency	39
1453	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	39
1454	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	39
1455	c	MSC175	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	39
1456	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	39
1457	P	HYP605	Hyperphenylalaninemia, Bh4-Deficient, B	39
1458	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	39
1459		MLY001	Molybdenum Cofactor Deficiency	39
1460	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	39
1461	c	PSD092	Pseudohypoaldosteronism, Type Iie	39
1462	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	39
1463	c	CNG413	Congenital Short Bowel Syndrome	39
1464		BTR002	Beta-Ureidopropionase Deficiency	38
1465	c	HYP602	Hyperoxaluria, Primary, Type Ii	38
1466	c	PRK090	Parkinson Disease 3, Autosomal Dominant	38
1467		MSC028	Muscular Dystrophy, Congenital, Megaconial Type	38
1468	P	2HY001	2-Hydroxyglutaric Aciduria	38
1469	c	MYG007	Myoglobinuria, Recurrent	38
1470		SCR037	Sucrase-Isomaltase Deficiency, Congenital	38
1471	c	LBR012	Leber Congenital Amaurosis 2	38
1472	c	MSC177	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	37
1473	c	CRD181	Ceroid Lipofuscinosis, Neuronal, 8	37
1474		HMC038	Hemochromatosis, Neonatal	37
1475		TRN021	Transaldolase Deficiency	37
1476	c	HRM012	Hermansky-Pudlak Syndrome 9	37
1477	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	37
1478		DCR008	Dicarboxylic Aminoaciduria	37
1479	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	37
1480	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	37
1481		APL017	Apolipoprotein C-Ii Deficiency	36
1482	c	NPH054	Nephrotic Syndrome, Type 3	36
1483	c	ATS246	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	36
1484	P	XLN110	X-Linked Charcot-Marie-Tooth Disease	36
1485	c	BLC011	Bile Acid Synthesis Defect, Congenital, 3	36
1486		HMM002	Haim-Munk Syndrome	36
1487		ACT209	Acatalasemia	36
1488	c	LPD034	Lipodystrophy, Familial Partial, Type 4	36
1489	c	ALB025	Albinism, Ocular, with Late-Onset Sensorineural Deafness	36
1490	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	35
1491	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	35
1492	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	35
1493	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	35
1494	c	MSC178	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	35
1495	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	35
1496	c	HRM010	Hermansky-Pudlak Syndrome 7	35
1497	P	SCH017	Schindler Disease	35
1498	c	BRT056	Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness	34
1499	c	MCP048	Mucopolysaccharidosis, Type Ivb	34
1500	P	PRR025	Perrault Syndrome	34
1501	P	HYP210	Hypomagnesemia 2, Renal	34
1502	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
1503	c	LBR005	Leber Congenital Amaurosis 10	34
1504	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
1505	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	34
1506	c	SCH069	Schindler Disease, Type I	34
1507	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	34
1508	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	34
1509	c	RNL047	Renal Tubular Acidosis, Distal, Autosomal Recessive	34
1510	c	MSC093	Muscular Dystrophy-Dystroglycanopathy , Type C, 3	34
1511	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	34
1512	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	34
1513	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	34
1514		CLS040	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency	34
1515		DSM002	Desmosterolosis	34
1516		LPS020	Lipase Deficiency, Combined	33
1517		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	33
1518	c	HYP603	Hyperoxaluria, Primary, Type Iii	33
1519	c	PNT043	Pontocerebellar Hypoplasia, Type 4	33
1520		WRN004	Wrinkly Skin Syndrome	33
1521	c	ATS280	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	33
1522	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	33
1523	P	CNG002	Congenital Bile Acid Synthesis Defect	33
1524	c	BNG079	Benign Adult Familial Myoclonic Epilepsy	33
1525	c	KLF004	Kleefstra Syndrome 1	33
1526	c	ATS298	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	33
1527	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	33
1528	c	ORT012	Orthostatic Hypotension 2	33
1529	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	33
1530	c	CHR682	Chronic Bilirubin Encephalopathy	33
1531	c	HYP804	Hyperlipidemia, Combined, 1	33
1532	c	CTR102	Cataract 2, Multiple Types	33
1533	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	33
1534	P	PRK101	Parkinsonism-Dystonia, Infantile, 1	33
1535	c	ATS297	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	33
1536		CMB012	Combined Oxidative Phosphorylation Deficiency 1	33
1537	c	MYC083	Myoclonic Epilepsy, Familial Infantile	33
1538	c	ATS330	Autosomal Dominant Limb-Girdle Muscular Dystrophy	32
1539	c	ATS277	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	32
1540	c	CTR132	Cataract 3, Multiple Types	32
1541		LTH002	Lathosterolosis	32
1542	c	GCH013	Gaucher Disease, Type Iiic	32
1543	c	MCP046	Mucopolysaccharidosis, Type Iiid	32
1544		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	32
1545		LKN026	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	32
1546	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	31
1547	c	MSC111	Muscular Dystrophy-Dystroglycanopathy , Type C, 7	31
1548		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	31
1549	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	31
1550	c	ERY065	Erythrocytosis, Familial, 7	31
1551	c	BLC009	Bile Acid Synthesis Defect, Congenital, 4	31
1552	c	CNT101	Central Congenital Hypothyroidism	31
1553	c	LBR016	Leber Congenital Amaurosis 6	31
1554	c	EXS020	Exostoses, Multiple, Type Ii	31
1555	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	31
1556		PLY158	Polyglucosan Body Neuropathy, Adult Form	31
1557	c	SPN284	Spinocerebellar Ataxia 38	31
1558	c	LBR018	Leber Congenital Amaurosis 8	31
1559	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	31
1560	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	31
1561	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	30
1562	P	CTR077	Citrullinemia, Type Ii, Neonatal-Onset	30
1563	c	MSC184	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	30
1564	c	PNT046	Pontocerebellar Hypoplasia, Type 5	30
1565		GLY099	Glycogen Storage Disease Ixa1	30
1566	c	ATS217	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	30
1567	c	PNT032	Pontocerebellar Hypoplasia, Type 9	30
1568	c	CRD225	Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant	30
1569		3MT022	3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia	30
1570	c	PNT033	Pontocerebellar Hypoplasia, Type 10	30
1571	c	LBR015	Leber Congenital Amaurosis 5	30
1572	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	30
1573		GLY058	Glycogen Storage Disease 0, Liver	30
1574	P	ALB023	Albinism, Ocular, with Sensorineural Deafness	30
1575	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	30
1576		PNC048	Pancreatic Lipase Deficiency	30
1577	c	MSC180	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	29
1578	c	MSC181	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	29
1579	c	MSC191	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	29
1580	c	MSC058	Muscular Dystrophy, Limb-Girdle, Type 1h	29
1581	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	29
1582	c	MSC176	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	29
1583		NST002	Nestor-Guillermo Progeria Syndrome	29
1584	c	HYP248	Hyperprolinemia, Type I	29
1585		CNG426	Congenital Muscular Dystrophy with Cerebellar Involvement	29
1586		MTC151	Mitochondrial Complex I Deficiency, Nuclear Type 20	29
1587	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	29
1588	c	MSC183	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	29
1589		MTC068	Mitochondrial Complex V Deficiency, Nuclear Type 2	28
1590	c	ATS299	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	28
1591	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	28
1592		CMB040	Combined D-2- and L-2-Hydroxyglutaric Aciduria	28
1593	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	28
1594	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	28
1595		CMB026	Combined Oxidative Phosphorylation Deficiency 12	28
1596	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	28
1597		SCH030	Schneckenbecken Dysplasia	28
1598		CNG427	Congenital Muscular Dystrophy with Intellectual Disability	28
1599	c	MSC182	Muscular Dystrophy-Dystroglycanopathy , Type C, 15	28
1600	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	28
1601		CRD231	Cardiomyopathy, Infantile Histiocytoid	28
1602	c	CTR113	Cataract 11, Multiple Types	28
1603		LGH013	Leigh Syndrome with Cardiomyopathy	27
1604	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	27
1605	c	LVR030	Liver Failure, Infantile, Transient	27
1606	c	PRK065	Parkinson Disease 20, Early-Onset	27
1607		EPL206	Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions	27
1608		CNG428	Congenital Muscular Dystrophy Without Intellectual Disability	27
1609	c	MSC179	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	27
1610		GBM001	Gaba Aminotransferase Deficiency	27
1611	c	ANM035	Anemia, Hypochromic Microcytic, with Iron Overload 1	27
1612		GLY033	Glycogen Storage Disease of Heart, Lethal Congenital	27
1613	c	PGM021	Pigmented Nodular Adrenocortical Disease, Primary, 1	27
1614	c	LBR008	Leber Congenital Amaurosis 13	27
1615	c	LPD036	Lipodystrophy, Familial Partial, Type 6	27
1616	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	27
1617	c	LPD044	Lipodystrophy, Familial Partial, Type 7	26
1618		FTL068	Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency	26
1619	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	26
1620		CYS045	Cystinosis, Adult Nonnephropathic	26
1621	c	PNT050	Pontocerebellar Hypoplasia, Type 11	26
1622	c	PGM011	Pigmented Nodular Adrenocortical Disease, Primary, 2	26
1623	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	26
1624	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	26
1625	c	CHR491	Charcot-Marie-Tooth Disease, Dominant Intermediate a	26
1626		CYS046	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type	26
1627	c	FML324	Familial Porphyria Cutanea Tarda	26
1628	c	ATS207	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	26
1629	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	26
1630	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	26
1631	c	PRK091	Parkinson Disease 4, Autosomal Dominant	26
1632	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	26
1633	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	26
1634	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	26
1635	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	26
1636		5XP001	5-Oxoprolinase Deficiency	26
1637	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	26
1638		ISB001	Isobutyryl-Coa Dehydrogenase Deficiency	26
1639	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	26
1640	c	PGM022	Pigmented Nodular Adrenocortical Disease, Primary, 4	26
1641		GLT011	Glutamine Deficiency, Congenital	26
1642		CMB014	Combined Oxidative Phosphorylation Deficiency 3	26
1643	P	PRM227	Primary Orthostatic Hypotension	25
1644	c	PSD093	Pseudohypoaldosteronism, Type Iid	25
1645		HYD030	Hydroxykynureninuria	25
1646		CNZ010	Coenzyme Q10 Deficiency, Primary, 7	25
1647	c	ATS211	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	25
1648	c	LPD030	Lipodystrophy, Familial Partial, Type 5	25
1649	c	CTR169	Cataract 29	25
1650	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	25
1651	c	NPH047	Nephrotic Syndrome, Type 4	25
1652		MTC091	Mitochondrial Complex Iii Deficiency, Nuclear Type 2	25
1653	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	25
1654	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	24
1655		GLY065	Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency	24
1656	c	PRR024	Perrault Syndrome 3	24
1657		LKN010	Leukoencephalopathy with Dystonia and Motor Neuropathy	24
1658		MCR315	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	24
1659		CMB011	Combined Malonic and Methylmalonic Aciduria	24
1660	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	24
1661		CNG466	Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	24
1662		CMB084	Combined Oxidative Phosphorylation Deficiency 34	24
1663	c	NPH073	Nephrotic Syndrome, Type 8	24
1664	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	24
1665	c	LCT011	Lactose Intolerance, Adult Type	24
1666		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	24
1667	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	24
1668	c	CTR162	Cataract 47	24
1669	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	24
1670	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	24
1671	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	23
1672	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	23
1673	c	PRK008	Parkinson Disease Type 9	23
1674		CMB019	Combined Oxidative Phosphorylation Deficiency 8	23
1675	c	NLX003	Neu-Laxova Syndrome 2	23
1676	c	NPH095	Nephrotic Syndrome, Type 11	23
1677	c	HYP819	Hyperlipoproteinemia, Type Id	23
1678		CMB041	Combined Oxidative Phosphorylation Deficiency 13	23
1679	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
1680	P	HYP252	Hypochromic Microcytic Anemia with Iron Overload	23
1681	c	PRK102	Parkinsonism-Dystonia, Infantile, 2	23
1682		CMB083	Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia	23
1683	c	CHR622	Charcot-Marie-Tooth Disease Type 2a2	22
1684	c	MSC187	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	22
1685	c	NPH074	Nephrotic Syndrome, Type 9	22
1686		CMB054	Combined Oxidative Phosphorylation Deficiency 23	22
1687	c	NPH103	Nephrotic Syndrome, Type 15	22
1688	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	22
1689	c	INT262	Intermediate Maple Syrup Urine Disease	22
1690	c	HYP163	Hyperlipidemia Type 3	22
1691		CMB025	Combined Oxidative Phosphorylation Deficiency 10	22
1692		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	22
1693	c	MLG151	Malignant Hyperthermia 5	22
1694	c	BLC018	Bile Acid Synthesis Defect, Congenital, 6	22
1695	c	INF138	Infantile Liver Failure Syndrome 2	22
1696	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	22
1697	c	MLG148	Malignant Hyperthermia 2	22
1698	c	ATP003	Atp6v0a2-Related Cutis Laxa	22
1699		CMB047	Combined Oxidative Phosphorylation Deficiency 18	21
1700	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	21
1701	c	MLG149	Malignant Hyperthermia 3	21
1702	c	CHR139	Charcot-Marie-Tooth Disease Type 2c	21
1703		HYP279	Hypercholanemia, Familial	21
1704	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	21
1705		CMB042	Combined Oxidative Phosphorylation Deficiency 16	21
1706		ENC050	Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities	21
1707		CRD192	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4	21
1708	c	ERY067	Erythrocytosis, Familial, 8	21
1709	c	BLC016	Bile Acid Synthesis Defect, Congenital, 5	21
1710	c	MLG150	Malignant Hyperthermia 4	21
1711	c	BRT024	Bartter Syndrome Type 4	21
1712		IMM194	Immunodeficiency 59 and Hypoglycemia	21
1713	c	NPH096	Nephrotic Syndrome, Type 12	21
1714		CRD158	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2	20
1715	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	20
1716	c	LMB073	Limb-Girdle Muscular Dystrophy Type 1a	20
1717	c	LBR006	Leber Congenital Amaurosis 11	20
1718		VRR003	Verruciform Xanthoma of Skin	20
1719	P	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	20
1720		MTC037	Mitochondrial Phosphate Carrier Deficiency	20
1721		CMB072	Combined Oxidative Phosphorylation Deficiency 28	20
1722	c	HYP831	Hyperparathyroidism, Transient Neonatal	20
1723	c	KLF005	Kleefstra Syndrome 2	20
1724	c	MSC186	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21	19
1725		BRK013	Birk-Landau-Perez Syndrome	19
1726		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	19
1727	c	HYP445	Hypomagnesemia 6, Renal	19
1728		HYP187	Hypertryptophanemia	19
1729	c	CHR142	Charcot-Marie-Tooth Disease Type 2f	19
1730	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	19
1731	c	NPH076	Nephrotic Syndrome, Type 10	19
1732	c	ERY064	Erythrocytosis, Familial, 6	19
1733	c	NPH105	Nephrotic Syndrome, Type 17	19
1734	c	LBR017	Leber Congenital Amaurosis 7	19
1735	c	NPH107	Nephrotic Syndrome, Type 19	19
1736	c	NPH104	Nephrotic Syndrome, Type 16	19
1737	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	19
1738	P	NMN012	Niemann-Pick Disease Type C, Juvenile Neurologic Onset	18
1739	c	NPH106	Nephrotic Syndrome, Type 18	18
1740		LGH017	Leigh Syndrome with Nephrotic Syndrome	18
1741	c	PLL014	Pellagra-Like Syndrome	18
1742		CPP001	Copper Deficiency, Familial Benign	18
1743	c	LMB074	Limb-Girdle Muscular Dystrophy Type 1b	18
1744	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
1745	c	NMN011	Niemann-Pick Disease Type C, Adult Neurologic Onset	17
1746	c	NMN010	Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset	17
1747	c	NMN009	Niemann-Pick Disease Type C, Late Infantile Neurologic Onset	17
1748		BTM003	Beta-Aminoisobutyric Aciduria	17
1749	c	PGM012	Pigmented Nodular Adrenocortical Disease, Primary, 3	17
1750	c	DWL003	Dowling-Degos Disease 2	17
1751	c	ATS332	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w	17
1752	c	MLG152	Malignant Hyperthermia 6	17
1753		NRD004	Neurodegeneration Due to Cerebral Folate Transport Deficiency	17
1754	c	NPH093	Nephrotic Syndrome, Type 13	17
1755		CRD193	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3	17
1756	c	HYP302	Hypomagnesemia 4, Renal	17
1757		RNL111	Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia	16
1758		ZNC006	Zinc, Elevated Plasma	16
1759	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	16
1760	c	CNG263	Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs	16
1761	c	CHR550	Charcot-Marie-Tooth Disease Type 2n	16
1762	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	15
1763		INT043	Intestinal Disaccharidase Deficiency	15
1764		PRD033	Periodic Paralysis with Later-Onset Distal Motor Neuropathy	15
1765		NNP016	Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy	15
1766	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	15
1767	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	15
1768	c	LMB030	Limb-Girdle Muscular Dystrophy Type 1c	14
1769	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	14
1770		HRD160	Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors	14
1771		FML315	Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia	13
1772	c	CNG543	Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies	13
1773	c	ATS261	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B	13
1774	c	CHR571	Charcot-Marie-Tooth Disease Type 5	12
1775	c	HYP333	Hyperlipidemia, Combined, 2	12
1776	c	CHR553	Charcot-Marie-Tooth Disease Type 2q	12
1777		IDP068	Idiopathic Malabsorption Due to Bile Acid Synthesis Defects	12
1778	c	CHR551	Charcot-Marie-Tooth Disease Type 2o	11
1779	c	ATS333	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	11
1780	c	RNL048	Renal Tubular Acidosis, Distal, Type 3	10
1781	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	9
1782		MTC093	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form	7
1783	c	SCN046	Secondary Short Bowel Syndrome	5
1784		BLC013	Bile Acid Coa Ligase Deficiency and Defective Amidation	5
1785		INF171	Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	5
1786	c	RNL049	Renal Tubular Acidosis, Distal, Type 4	5
1787	c	HYP232	Hypothyroidism Due to Iodide Transport Defect	4
1788		WLS003	Wilson-Turner X-Linked Mental Retardation Syndrome	46
1789		MHM001	Mehmo Syndrome	35
1790		ERY061	Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige	35
1791		STR067	Stroke, Ischemic	82
1792		BRJ001	Borjeson-Forssman-Lehmann Syndrome	54
1793		ACR006	Aceruloplasminemia	73
1794		CNN003	Conn's Syndrome	70
1795		MND021	Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome	60
1796		ALK013	Alkaptonuria	57
1797		ACR056	Acrodermatitis Enteropathica, Zinc-Deficiency Type	53
1798	c	MNT143	Mental Retardation, Autosomal Dominant 13	42
1799	P	MNT319	Mental Retardation, Autosomal Dominant 20	41
1800		AMN007	Aminoacylase 1 Deficiency	37
1801	c	MNT185	Mental Retardation, Autosomal Dominant 7	30
1802	c	MNT145	Mental Retardation, Autosomal Recessive 5	30
1803	c	MNT210	Mental Retardation, Autosomal Recessive 42	29
1804	c	MNT155	Mental Retardation, Autosomal Recessive 2	29
1805	c	MNT158	Mental Retardation, Autosomal Dominant 22	29
1806	c	MNT212	Mental Retardation, Autosomal Dominant 26	28
1807	c	MNT241	Mental Retardation, Autosomal Dominant 32	28
1808	c	MNT246	Mental Retardation, Autosomal Dominant 38	28
1809	c	MNT183	Mental Retardation, Autosomal Recessive 36	28
1810	c	MNT328	Mental Retardation, Autosomal Dominant 52	28
1811	c	MNT280	Mental Retardation, Autosomal Dominant 43	28
1812	c	MNT157	Mental Retardation, Autosomal Dominant 18	28
1813	c	MNT213	Mental Retardation, Autosomal Recessive 40	27
1814	c	MNT262	Mental Retardation, Autosomal Dominant 42	27
1815	c	MNT242	Mental Retardation, Autosomal Dominant 40	27
1816	c	MNT166	Mental Retardation, Autosomal Recessive 39	27
1817	c	MNT270	Mental Retardation, Autosomal Recessive 53	27
1818	c	MNT226	Mental Retardation, Autosomal Dominant 31	27
1819	c	MNT244	Mental Retardation, Autosomal Recessive 49	27
1820	c	MNT273	Mental Retardation, Autosomal Dominant 44	26
1821	c	MNT324	Mental Retardation, Autosomal Dominant 49	26
1822	c	MNT222	Mental Retardation, Autosomal Dominant 29	26
1823	c	MNT214	Mental Retardation, Autosomal Dominant 24	26
1824	c	MNT239	Mental Retardation, Autosomal Dominant 35	26
1825	c	MNT184	Mental Retardation, Autosomal Dominant 11	26
1826	c	MNT287	Mental Retardation, Autosomal Recessive 57	26
1827	c	MNT176	Mental Retardation, Autosomal Recessive 38	26
1828	c	MNT216	Mental Retardation, Autosomal Recessive 41	26
1829	c	MNT325	Mental Retardation, Autosomal Recessive 61	26
1830	c	MNT322	Mental Retardation, Autosomal Dominant 27	26
1831	c	MNT236	Mental Retardation, Autosomal Dominant 39	26
1832	c	MNT211	Mental Retardation, Autosomal Dominant 23	26
1833	c	MNT150	Mental Retardation, Autosomal Recessive 15	26
1834	c	MNT334	Mental Retardation, Autosomal Dominant 57	25
1835	c	MNT282	Mental Retardation, Autosomal Recessive 55	25
1836	c	MNT219	Mental Retardation, Autosomal Dominant 30	25
1837	c	MNT238	Mental Retardation, Autosomal Dominant 34	25
1838	c	MNT177	Mental Retardation, Autosomal Recessive 27	25
1839	c	MNT332	Mental Retardation, Autosomal Dominant 56	25
1840	c	MNT321	Mental Retardation, Autosomal Recessive 37	25
1841	c	MNT186	Mental Retardation, Autosomal Dominant 10	25
1842	c	MNT272	Mental Retardation, Autosomal Dominant 41	25
1843	c	MNT245	Mental Retardation, Autosomal Dominant 36	25
1844	c	MNT227	Mental Retardation, Autosomal Recessive 46	25
1845	c	MNT337	Mental Retardation, Autosomal Dominant 58	24
1846	c	MNT221	Mental Retardation, Autosomal Recessive 44	24
1847	c	MNT179	Mental Retardation, Autosomal Dominant 21	24
1848		MTH079	Methylmalonic Acidemia and Homocysteinemia, Cblx Type	24
1849	c	MNT154	Mental Retardation, Autosomal Recessive 14	24
1850	c	MNT327	Mental Retardation, Autosomal Dominant 51	24
1851	c	MNT285	Mental Retardation, Autosomal Recessive 58	24
1852	c	MNT323	Mental Retardation, Autosomal Dominant 48	24
1853	c	MNT329	Mental Retardation, Autosomal Dominant 53	24
1854	c	MNT339	Mental Retardation, Autosomal Recessive 66	24
1855	c	MNT330	Mental Retardation, Autosomal Dominant 54	23
1856	c	MNT286	Mental Retardation, Autosomal Dominant 45	23
1857	c	MNT326	Mental Retardation, Autosomal Dominant 50	23
1858	c	MNT181	Mental Retardation, Autosomal Recessive 35	23
1859	c	MNT338	Mental Retardation, Autosomal Recessive 65	23
1860	c	MNT234	Mental Retardation, Autosomal Recessive 48	23
1861	c	MNT215	Mental Retardation, Autosomal Recessive 43	22
1862	c	MNT336	Mental Retardation, Autosomal Recessive 64	22
1863	c	MNT220	Mental Retardation, Autosomal Recessive 45	22
1864	c	MNT225	Mental Retardation, Autosomal Recessive 47	22
1865	c	MNT279	Mental Retardation, Autosomal Dominant 47	22
1866	c	MNT162	Mental Retardation, Autosomal Recessive 24	22
1867	c	MNT278	Mental Retardation, Autosomal Dominant 46	21
1868	c	MNT275	Mental Retardation, Autosomal Recessive 60	21
1869	c	MNT151	Mental Retardation, Autosomal Recessive 18	21
1870	c	MNT263	Mental Retardation, Autosomal Recessive 51	21
1871	c	MNT172	Mental Retardation, Autosomal Recessive 25	21
1872	c	MNT240	Mental Retardation, Autosomal Dominant 33	21
1873	c	MNT335	Mental Retardation, Autosomal Recessive 63	21
1874	c	MNT165	Mental Retardation, Autosomal Recessive 28	21
1875	c	MNT264	Mental Retardation, Autosomal Recessive 52	21
1876	c	MNT163	Mental Retardation, Autosomal Recessive 30	20
1877	c	MNT182	Mental Retardation, Autosomal Recessive 19	20
1878	c	MNT277	Mental Retardation, Autosomal Recessive 54	20
1879	c	MNT281	Mental Retardation, Autosomal Recessive 59	20
1880	c	MNT243	Mental Retardation, Autosomal Recessive 50	20
1881	c	MNT170	Mental Retardation, Autosomal Recessive 23	20
1882	c	MNT167	Mental Retardation, Autosomal Recessive 16	20
1883	c	MNT180	Mental Retardation, Autosomal Recessive 33	20
1884	c	MNT284	Mental Retardation, Autosomal Recessive 56	20
1885	c	MNT161	Mental Retardation, Autosomal Recessive 29	19
1886		BLD065	Blue Diaper Syndrome	19
1887	c	MNT160	Mental Retardation, Autosomal Recessive 31	18
1888	c	ATS394	Autosomal Dominant Mental Retardation 55	11
1889	P	HYP607	Hypercholesterolemia, Familial	81
1890	P	MTC003	Metachromatic Leukodystrophy	70
1891		ABT001	Abetalipoproteinemia	67
1892	P	CRN037	Craniosynostosis	66
1893		SND001	Sandhoff Disease	65
1894	P	LBR001	Leber Congenital Amaurosis	65
1895	P	CHR071	Charcot-Marie-Tooth Disease	65
1896	c	LPM012	Lipomatosis, Multiple	65
1897		MNK001	Menkes Disease	64
1898		HYP020	Hyperprolactinemia	63
1899	P	HRM001	Hermansky-Pudlak Syndrome	63
1900	P	GLL020	Gallbladder Disease	62
1901	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	60
1902	c	LPD015	Lipodystrophy, Familial Partial, Type 2	60
1903		HYP190	Hypoalphalipoproteinemia, Primary	60
1904		WLK001	Walker-Warburg Syndrome	59
1905		LBR002	Leber Hereditary Optic Neuropathy	58
1906	c	NMN013	Niemann-Pick Disease, Type a	57
1907		GLB001	Gilbert Syndrome	57
1908		MVL001	Mevalonic Aciduria	57
1909	c	PSD108	Pseudohypoparathyroidism, Type Ia	56
1910	P	HYP097	Hyperekplexia	56
1911	P	PRG047	Progressive Familial Intrahepatic Cholestasis	55
1912		PSD014	Pseudopseudohypoparathyroidism	55
1913	c	OPT053	Optic Atrophy 1	55
1914	c	PTT057	Pituitary Adenoma 4, Acth-Secreting	54
1915	c	CHL132	Cholestasis, Progressive Familial Intrahepatic, 1	54
1916	c	CHL134	Cholestasis, Benign Recurrent Intrahepatic, 1	54
1917	c	ALB009	Albinism, Oculocutaneous, Type Ia	54
1918		RNL024	Renal Glucosuria	54
1919		RNL051	Renal Cysts and Diabetes Syndrome	53
1920	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	53
1921	c	ALB021	Albinism, Oculocutaneous, Type Ii	53
1922	c	DMN023	Diamond-Blackfan Anemia 1	53
1923		ARG007	Argininemia	53
1924	P	ACT092	Acth-Independent Macronodular Adrenal Hyperplasia	53
1925	P	ACT010	Acth-Secreting Pituitary Adenoma	52
1926		WRN002	Wernicke-Korsakoff Syndrome	52
1927	c	NMN014	Niemann-Pick Disease, Type C2	52
1928	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	52
1929		CRB151	Cerebral Creatine Deficiency Syndrome 1	51
1930		ALB001	Albright's Hereditary Osteodystrophy	51
1931	P	HMC002	Homocystinuria	51
1932		DRR003	Diarrhea 5, with Tufting Enteropathy, Congenital	50
1933	P	FML068	Familial Hypocalciuric Hypercalcemia	50
1934		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	50
1935	c	ERY048	Erythrocytosis, Familial, 2	50
1936		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	49
1937		DRR016	Diarrhea 2, with Microvillus Atrophy	49
1938		SBL008	Sea-Blue Histiocyte Disease	48
1939	c	HRD039	Hereditary Amyloidosis	48
1940	c	CHL136	Cholestasis, Progressive Familial Intrahepatic, 2	48
1941	c	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	47
1942	c	ALB010	Albinism, Oculocutaneous, Type Ib	47
1943	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	47
1944	c	CHL137	Cholestasis, Progressive Familial Intrahepatic, 3	46
1945	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	46
1946	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	46
1947	P	OCL001	Ocular Albinism	45
1948		GLT007	Glutathione Synthetase Deficiency	45
1949	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	45
1950		MSC077	Muscle Eye Brain Disease	45
1951	c	CRB193	Cerebral Amyloid Angiopathy, App-Related	45
1952	c	GLL024	Gallbladder Disease 1	45
1953	c	BLC007	Bile Acid Synthesis Defect, Congenital, 1	45
1954	c	GM1005	Gm1-Gangliosidosis, Type Ii	45
1955	c	HYP734	Hypercholesterolemia, Autosomal Dominant, Type B	45
1956	P	PRM001	Primary Cutaneous Amyloidosis	44
1957	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	44
1958	c	CRN278	Craniosynostosis 1	44
1959	c	CHL118	Cholestasis, Benign Recurrent Intrahepatic, 2	44
1960		CRD075	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	44
1961	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	44
1962	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	43
1963		PRL019	Prolidase Deficiency	43
1964	c	FML015	Familial Nephrotic Syndrome	43
1965	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	42
1966	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	41
1967	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	40
1968		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	40
1969		PYR037	Pyruvate Carboxylase Deficiency	40
1970	c	PNT037	Pontocerebellar Hypoplasia, Type 3	40
1971	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	40
1972		PRM237	Primary Hypomagnesemia	39
1973	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	39
1974		CRD170	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1	39
1975	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	39
1976	P	HYP758	Hyperuricemic Nephropathy, Familial Juvenile, 1	39
1977	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	39
1978		GCH018	Gaucher Disease, Perinatal Lethal	38
1979		MTC085	Mitochondrial Complex Iii Deficiency, Nuclear Type 1	38
1980	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	38
1981		NRP045	Neuropathy, Ataxia, and Retinitis Pigmentosa	37
1982	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	37
1983	c	NPH070	Nephrotic Syndrome, Type 6	37
1984	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	37
1985	c	CRD239	Ceroid Lipofuscinosis, Neuronal, 13	37
1986	c	HYP534	Hypomagnesemia 3, Renal	37
1987		BJR001	Bjornstad Syndrome	36
1988	c	CHL143	Cholestasis, Progressive Familial Intrahepatic, 4	36
1989	c	PRK085	Parkinson Disease 1, Autosomal Dominant	36
1990		PLV001	Pelvic Lipomatosis	35
1991		DHY010	Dihydrolipoamide Dehydrogenase Deficiency	35
1992	c	ACT202	Acth-Independent Macronodular Adrenal Hyperplasia 2	35
1993	c	OPT068	Optic Atrophy 3, Autosomal Dominant	35
1994	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	35
1995	c	HYP805	Hypercholesterolemia, Autosomal Dominant, 3	35
1996	c	GM1006	Gm1-Gangliosidosis, Type Iii	34
1997	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	34
1998		INF129	Infantile Cerebellar-Retinal Degeneration	33
1999	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	33
2000		IMM080	Immunodeficiency 23	31
2001		CKS001	Ck Syndrome	31
2002	c	BLC008	Bile Acid Synthesis Defect, Congenital, 2	31
2003		DFN350	Deafness, Aminoglycoside-Induced	31
2004	c	CRN277	Craniosynostosis 2	31
2005	c	NPH072	Nephrotic Syndrome, Type 7	30
2006	P	ACR110	Acrodysostosis 1 with or Without Hormone Resistance	30
2007	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	30
2008		HYP827	Hypomagnesemia 5, Renal, with or Without Ocular Involvement	29
2009		DFN270	Deafness, Dystonia, and Cerebral Hypomyelination	29
2010	P	BRT053	Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness	29
2011		HYP241	Hypermethioninemia Due to Adenosine Kinase Deficiency	29
2012	c	CRN281	Craniosynostosis 7	29
2013	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	29
2014	c	HYP699	Hyperekplexia 1	29
2015	c	CHR522	Charcot-Marie-Tooth Disease, Dominant Intermediate E	27
2016	c	PRR020	Perrault Syndrome 1	27
2017	c	CRN217	Craniosynostosis 3	26
2018	c	GLL027	Gallbladder Disease 4	26
2019		HYP629	Hyperphosphatasia-Intellectual Disability Syndrome	26
2020	c	ACR119	Acrodysostosis 2 with or Without Hormone Resistance	26
2021		MYP017	Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay	25
2022	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
2023		ART103	Arthrogryposis, Mental Retardation, and Seizures	25
2024	c	FML249	Familial Amyloidosis, Finnish Type	24
2025		DYS187	Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities	24
2026		OPT074	Optic Atrophy 7 with or Without Auditory Neuropathy	24
2027	c	OPT024	Optic Atrophy 5	24
2028	c	HYP813	Hyperuricemic Nephropathy, Familial Juvenile, 2	24
2029	c	CRN216	Craniosynostosis 5	24
2030	c	OPT065	Optic Atrophy 9	24
2031	c	CRN221	Craniosynostosis 4	23
2032	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	23
2033		GLT014	Glutathionuria	23
2034		ICH043	Ichthyosis, Spastic Quadriplegia, and Mental Retardation	22
2035	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	22
2036	c	OPT023	Optic Atrophy 2	22
2037		CNZ009	Coenzyme Q10 Deficiency, Primary, 5	22
2038	c	CRN256	Craniosynostosis 6	22
2039	P	PRM016	Primary Optic Atrophy	22
2040		HRL006	Harel-Yoon Syndrome	22
2041	c	OPT025	Optic Atrophy 6	21
2042	c	OPT060	Optic Atrophy 8	21
2043	c	MSC189	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	21
2044		GRW003	Growth Hormone Insensitivity with Immunodeficiency	21
2045	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	20
2046	c	ERY031	Erythrocytosis, Familial, 3	20
2047	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	20
2048	c	HYP718	Hyperuricemic Nephropathy, Familial Juvenile, 4	20
2049	c	ERY032	Erythrocytosis, Familial, 4	18
2050	c	ERY063	Erythrocytosis, Familial, 5	17
2051		MTC179	Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss	16
2052	c	OPT059	Optic Atrophy 4	16
2053		MTC106	Mitochondrial Non-Syndromic Sensorineural Deafness	16
2054	c	HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	14
2055	c	GLL025	Gallbladder Disease 2	12
2056	c	GLL026	Gallbladder Disease 3	12
2057	c	FCS008	Fucosidosis Type 1	10
2058	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	9
2059	c	CRN093	Craniosynostosis Autosomal Dominant	7
2060		HYP492	Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation	6
2061		ATS077	Autosomal Dominant Optic Atrophy and Peripheral Neuropathy	5
2062	P	HYP802	Hypocalcemia, Autosomal Dominant 1	66
2063	P	CTS001	Cutis Laxa	58
2064	c	CTS045	Cutis Laxa, Autosomal Dominant 1	49
2065	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	39
2066	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
2067	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	32
2068	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	28
2069	c	CTS041	Cutis Laxa, Autosomal Dominant 3	27
2070	c	LTB003	Ltbp4-Related Cutis Laxa	17
2071		INS024	Insulin-Like Growth Factor I	82
2072		WLS001	Wilson Disease	70
2073		CHD001	Chediak-Higashi Syndrome	67
2074	P	PRP003	Porphyria Cutanea Tarda	66
2075	P	MPL001	Maple Syrup Urine Disease	64
2076		KRN002	Kearns-Sayre Syndrome	63
2077	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	62
2078	P	CRG003	Crigler-Najjar Syndrome, Type I	61
2079		MYC079	Myoclonic Epilepsy of Lafora	61
2080	c	CRD177	Ceroid Lipofuscinosis, Neuronal, 1	60
2081		LNG073	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	60
2082	c	ANM038	Anemia, Autoimmune Hemolytic	59
2083	c	GM1004	Gm1-Gangliosidosis, Type I	56
2084	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	56
2085	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	56
2086	c	MSC037	Muscular Dystrophy-Dystroglycanopathy , Type a, 4	56
2087	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	56
2088	c	ALM001	Al Amyloidosis	55
2089	P	SJG002	Sjogren-Larsson Syndrome	55
2090	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	54
2091	c	GLY007	Glycogen Storage Disease Iv	54
2092		PRN001	Purine Nucleoside Phosphorylase Deficiency	52
2093	P	AMY084	Amyloidosis, Finnish Type	52
2094		AMY082	Amyloidosis, Familial Visceral	51
2095		BRN045	Brunner Syndrome	50
2096	c	CRD185	Ceroid Lipofuscinosis, Neuronal, 6	49
2097	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	46
2098	c	CRD184	Ceroid Lipofuscinosis, Neuronal, 5	44
2099	P	SDR003	Sideroblastic Anemia	43
2100	c	CRD179	Ceroid Lipofuscinosis, Neuronal, 7	43
2101	c	MSC104	Muscular Dystrophy-Dystroglycanopathy , Type C, 1	42
2102	c	CRB174	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	38
2103	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	37
2104	c	CRD226	Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive	37
2105	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	34
2106		TMT002	Temtamy Preaxial Brachydactyly Syndrome	30
2107		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	26
2108		CNZ008	Coenzyme Q10 Deficiency, Primary, 6	26
2109		VSC044	Visceral Myopathy	52
2110		LPD016	Lipoid Proteinosis of Urbach and Wiethe	66
2111	c	TYR012	Tyrosinemia, Type I	55
2112		FNC009	Fanconi-Bickel Syndrome	53
2113	c	SPN314	Spinocerebellar Ataxia 10	51
2114		ATR002	Atransferrinemia	50
2115	c	SPN309	Spinocerebellar Ataxia 6	49
2116	P	NRD007	Neurodegeneration with Brain Iron Accumulation	45
2117	c	SPN097	Spinocerebellar Ataxia 23	45
2118	c	SPN290	Spinocerebellar Ataxia 15	43
2119	c	SPN305	Spinocerebellar Ataxia 11	42
2120	c	SPN265	Spinocerebellar Ataxia 36	42
2121	c	SPN283	Spinocerebellar Ataxia 37	41
2122	c	SPN304	Spinocerebellar Ataxia 8	41
2123	c	SPN106	Spinocerebellar Ataxia 5	41
2124	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	40
2125	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	39
2126	c	CRB176	Cerebral Amyloid Angiopathy, Itm2b-Related, 1	38
2127	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	37
2128	c	SPN094	Spinocerebellar Ataxia 18	37
2129	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	35
2130	c	SPN095	Spinocerebellar Ataxia 19	35
2131	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	35
2132	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	34
2133	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	34
2134	c	SPN266	Spinocerebellar Ataxia 35	34
2135	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	33
2136	c	SPN105	Spinocerebellar Ataxia 4	33
2137	c	SPN383	Spinocerebellar Ataxia 42	32
2138	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	32
2139	c	SPN104	Spinocerebellar Ataxia 34	31
2140	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	30
2141	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	30
2142	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	30
2143	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	29
2144	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	29
2145	c	SPN372	Spinocerebellar Ataxia 43	27
2146	c	SPN420	Spinocerebellar Ataxia 46	25
2147	c	OPT064	Optic Atrophy 11	24
2148	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	24
2149	c	SPN427	Spinocerebellar Ataxia 48	24
2150	c	HRM005	Hermansky-Pudlak Syndrome 1	54
2151	c	HRM008	Hermansky-Pudlak Syndrome 5	52
2152	c	HRM006	Hermansky-Pudlak Syndrome 3	51
2153		ARM001	Aromatase Deficiency	51
2154	c	HRM009	Hermansky-Pudlak Syndrome 6	44
2155	c	HRM007	Hermansky-Pudlak Syndrome 4	38
2156	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	53
2157	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	50
2158	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	47
2159	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	42
2160	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	42
2161	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	42
2162	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	41
2163	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	41
2164	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	40
2165	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	40
2166	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	39
2167	c	SPS039	Spastic Paraplegia 5a	33
2168	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	32
2169	c	SPS091	Spastic Paraplegia 4	31
2170	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	31
2171	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	29
2172	c	SPS025	Spastic Paraplegia 15	28
2173	c	ATS069	Autosomal Dominant Optic Atrophy Plus Syndrome	27
2174	c	SPS041	Spastic Paraplegia 6	25
2175	c	SPS037	Spastic Paraplegia 31	22
2176	c	SPS038	Spastic Paraplegia 39	19
2177	c	SPN294	Spinocerebellar Ataxia 1	59
2178	P	SPN301	Spinocerebellar Ataxia 2	59
2179	c	SPN291	Spinocerebellar Ataxia 7	53
2180	c	SPN296	Spinocerebellar Ataxia 17	48
2181	c	SPN311	Spinocerebellar Ataxia 13	46
2182	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	38
2183	c	SPN101	Spinocerebellar Ataxia 29	35
2184	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	34
2185	c	SPN096	Spinocerebellar Ataxia 21	33
2186	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	33
2187	P	ENC018	Encephalopathy	65
2188		CYS040	Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation	20
2189	c	MSC100	Muscular Dystrophy-Dystroglycanopathy , Type C, 9	37
2190	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	35
2191	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	27
2192	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	24
2193	c	MSC188	Muscular Dystrophy-Dystroglycanopathy , Type C, 8	23
2194	c	RRM004	Rrm2b-Related Mitochondrial Dna Depletion Syndrome	19
2195	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	56
2196	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	44
2197	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	41
2198	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	33
2199	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	31
2200	c	SPS092	Spastic Paraplegia 11	29
2201	c	SPS020	Spastic Paraplegia 1	25
2202	P	OCL002	Oculocutaneous Albinism	54
2203	c	HRD010	Hereditary Spastic Paraplegia	68
2204	c	SPS042	Spastic Paraplegia 9	23
2205	c	MSC101	Muscular Dystrophy-Dystroglycanopathy , Type a, 7	29
2206	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	29
2207	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	27
2208	c	MSC041	Muscular Dystrophy-Dystroglycanopathy , Type a, 6	27
2209	c	MSC102	Muscular Dystrophy-Dystroglycanopathy , Type a, 12	27
2210	c	MSC105	Muscular Dystrophy-Dystroglycanopathy , Type a, 13	27
2211	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	27
2212	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	26
2213	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	25
2214	c	MSC097	Muscular Dystrophy-Dystroglycanopathy , Type a, 14	24
2215	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	24
2216	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	24
2217	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	57
2218	c	MSC035	Muscular Dystrophy-Dystroglycanopathy , Type B, 5	51
2219	c	MSC042	Muscular Dystrophy-Dystroglycanopathy , Type B, 6	50
2220	c	MSC048	Muscular Dystrophy-Dystroglycanopathy , Type B, 1	30
2221	c	MSC044	Muscular Dystrophy-Dystroglycanopathy , Type B, 2	29
2222	c	MSC099	Muscular Dystrophy-Dystroglycanopathy , Type B, 14	25
2223	c	MSC046	Muscular Dystrophy-Dystroglycanopathy , Type B, 3	25
2224	c	MSC038	Muscular Dystrophy-Dystroglycanopathy , Type B, 4	23