Metabolic Diseases Category (2655 diseases)

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

#	Family	MCID	Name	MIFTS
1		LPT006	Leptin Receptor Deficiency	53
2		ABD017	Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	50
3		MMS001	Momo Syndrome	29
4	c	ABD013	Abdominal Obesity-Metabolic Syndrome 3	38
5	P	DRG021	Drug Metabolism, Poor, Cyp2c19-Related	32
6		INT449	Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	49
7		OBS037	Obesity-Hypoventilation Syndrome	47
8		OBS081	Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair	40
9	c	BDY020	Body Mass Index Quantitative Trait Locus 19	52
10	c	BDY017	Body Mass Index Quantitative Trait Locus 14	45
11	c	BDY005	Body Mass Index Quantitative Trait Locus 9	47
12	c	BDY019	Body Mass Index Quantitative Trait Locus 18	47
13	c	BDY010	Body Mass Index Quantitative Trait Locus 4	45
14	c	BDY015	Body Mass Index Quantitative Trait Locus 12	45
15	c	BDY006	Body Mass Index Quantitative Trait Locus 8	43
16	c	BDY012	Body Mass Index Quantitative Trait Locus 7	43
17		SPS204	Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity	43
18		PRP098	Proprotein Convertase 1/3 Deficiency	42
19	c	ABD015	Abdominal Obesity-Metabolic Syndrome 4	19
20		MRB006	Morbid Obesity and Spermatogenic Failure	22
21		HYD021	Hydrocephalus Obesity Hypogonadism	19
22		RPD006	Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	32
23	P	THM010	Thiamine Metabolism Dysfunction Syndrome 2	49
24	c	THM013	Thiamine Metabolism Dysfunction Syndrome 5	31
25	P	OBS015	Obesity, Hyperphagia, and Developmental Delay	25
26		RHH001	Rohhad	21
27		ANR042	Aniridia - Ptosis - Intellectual Disability - Familial Obesity	16
28		GNT051	Genetic Non-Syndromic Obesity	6
29	c	BDY021	Body Mass Index Quantitative Trait Locus 20	53
30		IRN004	Iron-Refractory Iron Deficiency Anemia	45
31		WLM019	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome	24
32	P	MCR323	Microcephaly, Short Stature, and Impaired Glucose Metabolism 1	23
33		CLB031	Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	18
34	P	INB001	Inborn Amino Acid Metabolism Disorder	11
35	c	DRG022	Drug Metabolism, Altered, Cyp2c8-Related	10
36		XLN122	X-Linked Intellectual Disability - Short Stature - Obesity	4
37	c	BDY011	Body Mass Index Quantitative Trait Locus 10	44
38		HYP364	Hyperostosis Frontalis Interna	32
39		PRL046	Prolactin Deficiency with Obesity and Enlarged Testes	10
40		OVR113	Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis	5
41		SCN071	Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease	4
42		SCN077	Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease	4
43	P	BRD002	Bardet-Biedl Syndrome	67
44	c	BRD010	Bardet-Biedl Syndrome 1	65
45	c	BRD015	Bardet-Biedl Syndrome 3	49
46	c	BRD035	Bardet-Biedl Syndrome 15	35
47		HYP835	Hypothalamic Obesity	25
48	c	BMN004	Biemond Syndrome Ii	23
49		MTB009	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	22
50	P	BMN001	Biemond Syndrome	18
51	P	LDD007	Liddle Syndrome 1	59
52	P	BRT004	Bartter Disease	57
53	c	BRD014	Bardet-Biedl Syndrome 2	50
54	c	BRT042	Bartter Syndrome, Type 3	48
55		ACT149	Acetaminophen Metabolism	37
56		PRN071	Parenteral Nutrition-Associated Cholestasis	30
57		ERY030	Erythrocyte Lactate Transporter Defect	27
58		MTB016	Metabolic Myopathy	24
59	c	LDD008	Liddle Syndrome 2	23
60	c	MCR316	Microcephaly, Short Stature, and Impaired Glucose Metabolism 2	23
61	c	THP005	Thiopurines, Poor Metabolism of, 2	23
62		OBS067	Obesity Due to Melanocortin 4 Receptor Deficiency	22
63		SHR077	Short Stature-Delayed Bone Age Due to Thyroid Hormone Metabolism Deficiency	20
64		OBS060	Obesity Due to Sim1 Deficiency	20
65	c	LDD009	Liddle Syndrome 3	19
66		INT298	Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	18
67		XLN211	X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	16
68		INT226	Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	16
69	P	DRG023	Drug Metabolism, Altered, Ces1-Related	14
70		SVR045	Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency	12
71		OBS068	Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	11
72	c	ANM038	Anemia, Autoimmune Hemolytic	64
73	P	HML002	Hemolytic Anemia	63
74	c	VTM027	Vitamin D-Dependent Rickets, Type 2a	61
75	c	PSD122	Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	57
76	c	BRD018	Bardet-Biedl Syndrome 6	49
77	c	CNG027	Congenital Hemolytic Anemia	48
78		ADP001	Adiposis Dolorosa	46
79	c	BRD017	Bardet-Biedl Syndrome 5	43
80	P	VTM036	Vitamin D-Dependent Rickets	41
81	c	BRD020	Bardet-Biedl Syndrome 8	40
82	c	BRD053	Bardet-Biedl Syndrome 22	36
83	c	BRD050	Bardet-Biedl Syndrome 21	29
84		DSR002	Disorders of Intracellular Cobalamin Metabolism	27
85	c	BRD051	Bardet-Biedl Syndrome 20	27
86	c	DRG020	Drug Metabolism, Poor, Cyp2d6-Related	22
87		SHR107	Short Stature-Obesity Syndrome	22
88	c	VTM037	Vitamin D-Dependent Rickets Type 2b	21
89		DRR022	Diarrhea 12, with Microvillus Atrophy	20
90		GNT167	Genetic Obesity	19
91		SYN116	Syndromic Obesity	17
92		ANT078	Antipyrine Metabolism	17
93		MDF004	Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia	15
94		TGL001	Tiglic Acidemia	13
95	c	DSR027	Disorders of Vitamin D Metabolism	12
96	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	12
97	c	RRH032	Rare Hemolytic Anemia	12
98		ANM041	Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism	8
99	c	RRC006	Rare Acquired Hemolytic Anemia	7
100	c	HML055	Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder	7
101		HYL006	Hyaluronan Metabolism, Defect in	5
102	c	ERL064	Early-Onset Obesity-Hyperphagia-Severe Developmental Delay Syndrome	5
103	c	HML056	Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes	5
104	c	HML057	Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies	5
105	c	46X077	46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue	5
106		DVL025	Developmental Anomaly of Metabolic Origin	4
107		MTB014	Metabolic Disease with Skin Involvement	4
108		OVR124	Overgrowth/obesity Syndrome	4
109		CHR069	Chronic Metabolic Polyneuropathy	4
110		RRP020	Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly	4
111	c	CNS020	Constitutional Anemia Due to Iron Metabolism Disorder	4
112		OTH019	Other Metabolic Disease with Skin Involvement	4
113		MTB010	Metabolic Diseases with Epilepsy	3
114		MTB015	Metabolic Disease with Cataract	3
115		OBS083	Obesity Due to Congenital Leptin Resistance	3
116	P	CNS017	Constitutional Megaloblastic Anemia Due to Folate Metabolism Disorder	3
117		ATS458	Autosomal Recessive Metabolic Cerebellar Ataxia	3
118	P	RRC005	Rare Constitutional Anemia	3
119		NPH110	Nephropathy Secondary to a Storage or Other Metabolic Disease	3
120		MTB011	Metabolic Neurotransmission Anomaly with Epilepsy	3
121		MTB017	Metabolic Disease with Dementia	3
122		GNT071	Genetic Overgrowth/obesity Syndrome	3
123		OTH015	Other Metabolic Disease with Epilepsy	3
124		AMN018	Amino Acid or Protein Metabolism Disease with Epilepsy	3
125		ENR004	Energy Metabolism Disorder with Epilepsy	3
126		RRG012	Rare Genetic Parathyroid Disease and Phosphocalcic Metabolism Disorder	3
127	c	CNS016	Constitutional Megaloblastic Anemia Due to Vitamin B12 Metabolism Disorder	3
128		STR105	Sterol Metabolism Disorder with Epilepsy	3
129		CRD029	Cardiomyopathy Hypogonadism Metabolic Anomalies	2
130	c	TYP009	Type 2 Diabetes Mellitus	91
131	c	TYP008	Type 1 Diabetes Mellitus	79
132	c	MNN047	Mannosidosis, Alpha B, Lysosomal	70
133	c	MCL062	Mucolipidosis Ii Alpha/beta	69
134	P	MPL001	Maple Syrup Urine Disease	69
135	P	HYP802	Hypocalcemia, Autosomal Dominant 1	68
136		PRP001	Propionic Acidemia	68
137	P	DBT009	Diabetes Mellitus	67
138		MLT118	Multiple Acyl-Coa Dehydrogenase Deficiency	66
139		RCK004	Rickets	66
140	P	AMY004	Amyloidosis	66
141		CTR172	Citrullinemia, Classic	65
142	P	MTR004	Maturity-Onset Diabetes of the Young	65
143		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	65
144	c	GLY003	Glycogen Storage Disease Iii	65
145	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	64
146	c	PRT132	Protoporphyria, Erythropoietic, 1	62
147	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	62
148		LNG073	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	62
149	c	MCP004	Mucopolysaccharidosis Iv	61
150	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	61
151		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	61
152		ASP002	Aspartylglucosaminuria	61
153		MTC146	Mitochondrial Complex I Deficiency, Nuclear Type 1	61
154	c	HYP841	Hypoalphalipoproteinemia, Primary, 1	61
155	P	HYP535	Hypogonadotropic Hypogonadism 7 with or Without Anosmia	60
156	P	NMN002	Niemann-Pick Disease	60
157		SNS008	Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis	60
158		HYP066	Hyperglycemia	60
159	c	PRX059	Peroxisome Biogenesis Disorder 1a	59
160		ARM002	Aromatic L-Amino Acid Decarboxylase Deficiency	59
161		MTC205	Mitochondrial Complex Iv Deficiency, Nuclear Type 1	58
162		FMR004	Fumarase Deficiency	58
163	c	GLY011	Glycogen Storage Disease Vii	57
164		HYP005	Hypokalemia	56
165	c	MCP048	Mucopolysaccharidosis, Type Ivb	56
166	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	56
167	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	56
168		GLB001	Gilbert Syndrome	55
169	c	HMC035	Hemochromatosis, Type 4	55
170	P	HYP050	Hyperinsulinemic Hypoglycemia	55
171		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	55
172		IMM080	Immunodeficiency 23	54
173	P	HMC002	Homocystinuria	54
174		HYP781	Hypoascorbemia	54
175	P	NNT058	Neonatal Diabetes	53
176		NRP045	Neuropathy, Ataxia, and Retinitis Pigmentosa	53
177		PRT038	Protein-Energy Malnutrition	53
178		HYP017	Hypophosphatemia	53
179	P	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	53
180		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	53
181		MTC207	Mitochondrial Complex Ii Deficiency, Nuclear Type 1	52
182		PRX005	Peroxisomal Biogenesis Disorder	52
183	P	NGH001	Night Blindness	52
184	P	L2H001	L-2-Hydroxyglutaric Aciduria	52
185	P	LCT001	Lactic Acidosis	51
186		FLT009	Folate Malabsorption, Hereditary	51
187	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	51
188		MTC206	Mitochondrial Complex Iv Deficiency, Nuclear Type 5	51
189	P	MTH008	Methylmalonic Acidemia	51
190	c	HYP548	Hypogonadotropic Hypogonadism 2 with or Without Anosmia	50
191		MTC151	Mitochondrial Complex I Deficiency, Nuclear Type 20	50
192		CMR002	Coumarin Resistance	50
193	c	HYP513	Hypogonadotropic Hypogonadism 1 with or Without Anosmia	50
194		XNT003	Xanthomatosis	49
195	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	49
196	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	49
197	c	3MT014	3-Methylglutaconic Aciduria, Type V	49
198	P	GNG009	Gangliosidosis	49
199		HYP550	Hypomagnesemia 1, Intestinal	48
200		CLC006	Calcinosis	48
201	P	HYP058	Hypervitaminosis a	48
202	c	TYP031	Type 1 Diabetes Mellitus 5	48
203		3MT008	3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	48
204	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	47
205		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	47
206		CMB012	Combined Oxidative Phosphorylation Deficiency 1	47
207		HYP025	Hyperphosphatemia	47
208		ALC028	Alacrima, Achalasia, and Mental Retardation Syndrome	46
209	c	TYP028	Type 1 Diabetes Mellitus 2	46
210		MTC091	Mitochondrial Complex Iii Deficiency, Nuclear Type 2	46
211	c	TYR011	Tyrosinemia, Type Iii	46
212		BTN004	Biotin Deficiency	45
213	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	45
214		MSC028	Muscular Dystrophy, Congenital, Megaconial Type	45
215		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	45
216		CMB011	Combined Malonic and Methylmalonic Aciduria	44
217	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	44
218	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	44
219		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	44
220	c	BRD045	Bardet-Biedl Syndrome 19	44
221		DGL002	D-Glyceric Aciduria	43
222		MTC112	Mitochondrial Dna-Associated Leigh Syndrome	43
223	c	BRD044	Bardet-Biedl Syndrome 17	43
224	c	HYP651	Hypogonadotropic Hypogonadism 23 with or Without Anosmia	43
225		FRS004	Free Sialic Acid Storage Disorders	43
226	c	BRD033	Bardet-Biedl Syndrome 13	43
227	c	CNG198	Congenital Disorder of Glycosylation, Type Il	42
228	c	HRD039	Hereditary Amyloidosis	42
229	c	HMC019	Hemochromatosis, Type 2b	42
230		CMB064	Combined Oxidative Phosphorylation Deficiency 24	42
231	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	41
232	P	HYP121	Hypoalphalipoproteinemia	41
233	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	41
234	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	41
235	c	HMC034	Hemochromatosis, Type 5	41
236	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	40
237	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	40
238	c	HYP881	Hypogonadotropic Hypogonadism 24 with or Without Anosmia	40
239		END028	Endemic Goiter	40
240	c	BRD047	Bardet-Biedl Syndrome 16	39
241	c	HYP057	Hypervitaminosis D	39
242		MTC163	Mitochondrial Complex I Deficiency, Nuclear Type 16	39
243	c	HYP549	Hypogonadotropic Hypogonadism 5 with or Without Anosmia	39
244		MTC208	Mitochondrial Complex Iv Deficiency, Nuclear Type 2	38
245		CMB091	Combined Oxidative Phosphorylation Deficiency 39	38
246		MYP097	Myopathy with Lactic Acidosis, Hereditary	38
247	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	37
248	c	GLY043	Glycogen Storage Disease Xii	37
249	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	37
250		CMB008	Combined Oxidative Phosphorylation Deficiency	36
251	c	TYP036	Type 1 Diabetes Mellitus 12	36
252		2MT003	2-Methylbutyryl-Coa Dehydrogenase Deficiency	36
253		MTC008	Mitochondrial Complex Iii Deficiency	36
254	c	HYP552	Hypogonadotropic Hypogonadism 6 with or Without Anosmia	36
255		PRP109	Peripheral Neuropathy with Variable Spasticity, Exercise Intolerance, and Developmental Delay	36
256	c	HYP531	Hypogonadotropic Hypogonadism 4 with or Without Anosmia	35
257	c	HYP518	Hypogonadotropic Hypogonadism 16 with or Without Anosmia	34
258		CMB087	Combined Oxidative Phosphorylation Deficiency 37	34
259	c	ALB015	Albinism, Oculocutaneous, Type V	34
260	c	INF122	Infantile Krabbe Disease	34
261		GCH010	Gaucher Disease, Atypical, Due to Saposin C Deficiency	34
262	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	34
263	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	33
264	c	PRC046	Precocious Puberty, Central, 2	33
265		CMB047	Combined Oxidative Phosphorylation Deficiency 18	33
266		CRB137	Cerebral Creatine Deficiency Syndrome	33
267		MCL022	Mucolipidoses	33
268		BTR002	Beta-Ureidopropionase Deficiency	33
269	c	PRX051	Peroxisome Biogenesis Disorder 6a	33
270	c	TYP034	Type 1 Diabetes Mellitus 8	33
271		MTC087	Mitochondrial Complex Iii Deficiency, Nuclear Type 4	33
272	c	TYP027	Type 1 Diabetes Mellitus 10	32
273	c	HYP565	Hypogonadotropic Hypogonadism 3 with or Without Anosmia	32
274		5XP001	5-Oxoprolinase Deficiency	32
275	c	HYP547	Hypogonadotropic Hypogonadism 12 with or Without Anosmia	32
276	c	HYP564	Hypocalcemia, Autosomal Dominant 2	32
277	c	TYP055	Type 1 Diabetes Mellitus 22	32
278		APL024	Apolipoprotein C-Iii Deficiency	32
279	c	TYP038	Type 1 Diabetes Mellitus 15	31
280	c	PRX048	Peroxisome Biogenesis Disorder 10a	31
281	c	TYP054	Type 1 Diabetes Mellitus 21	31
282		MNC004	Monoclonal Paraproteinemia	31
283	P	PRX064	Peroxisome Biogenesis Disorder 2b	30
284		HYD058	Hydrops, Lactic Acidosis, and Sideroblastic Anemia	30
285	c	PRX052	Peroxisome Biogenesis Disorder 13a	30
286	c	HYP523	Hypogonadotropic Hypogonadism 14 with or Without Anosmia	30
287		CMB051	Combined Oxidative Phosphorylation Deficiency 21	30
288		CMB053	Combined Oxidative Phosphorylation Deficiency 22	30
289	c	TYP032	Type 1 Diabetes Mellitus 6	30
290		ADN090	Adenosylcobalamin Deficiency	30
291		CPP004	Copper Deficiency Myelopathy	29
292		HRL006	Harel-Yoon Syndrome	29
293	c	HYP532	Hypogonadotropic Hypogonadism 18 with or Without Anosmia	29
294	c	TYP056	Type 1 Diabetes Mellitus 23	29
295	c	PRX066	Peroxisome Biogenesis Disorder 3b	29
296	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	29
297	c	HYP511	Hypogonadotropic Hypogonadism 15 with or Without Anosmia	29
298		CMB042	Combined Oxidative Phosphorylation Deficiency 16	29
299		CMB096	Combined Oxidative Phosphorylation Deficiency 40	29
300	c	HYP522	Hypogonadotropic Hypogonadism 11 with or Without Anosmia	29
301	c	TYP053	Type 1 Diabetes Mellitus 20	28
302	c	TYP033	Type 1 Diabetes Mellitus 7	28
303	c	HYP817	Hypogonadotropic Hypogonadism 21 with or Without Anosmia	28
304		HYP866	Hypervalinemia and Hyperleucine-Isoleucinemia	28
305		ACY011	Acyl-Coa Dehydrogenase Deficiency	28
306	c	HYP514	Hypogonadotropic Hypogonadism 8 with or Without Anosmia	27
307	c	VTM035	Vitamin D-Dependent Rickets, Type 3	27
308	c	TYP035	Type 1 Diabetes Mellitus 11	27
309	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	27
310		MTC158	Mitochondrial Complex I Deficiency, Nuclear Type 10	27
311	c	HYP557	Hypogonadotropic Hypogonadism 19 with or Without Anosmia	26
312		PHS029	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	26
313		DMT001	Dimethylglycine Dehydrogenase Deficiency	26
314	c	HYP443	Hypogonadotropic Hypogonadism 13 with or Without Anosmia	26
315	c	HYP538	Hypogonadotropic Hypogonadism 17 with or Without Anosmia	26
316	c	TYP029	Type 1 Diabetes Mellitus 3	26
317	c	HYP521	Hypogonadotropic Hypogonadism 10 with or Without Anosmia	26
318		ALC035	Alcoholic Ketoacidosis	26
319		SRN001	Serine Deficiency	26
320	c	TYP030	Type 1 Diabetes Mellitus 4	26
321	c	HYP444	Hypogonadotropic Hypogonadism 9 with or Without Anosmia	25
322	c	TYP057	Type 1 Diabetes Mellitus 24	25
323	c	HYP546	Hypogonadotropic Hypogonadism 20 with or Without Anosmia	25
324	c	HYP820	Hypogonadotropic Hypogonadism 22 with or Without Anosmia	25
325		MTC164	Mitochondrial Complex I Deficiency, Nuclear Type 17	25
326		MTC167	Mitochondrial Complex I Deficiency, Nuclear Type 21	25
327		MTC115	Mitochondrial Myopathy, Lethal, Infantile	25
328		MTC166	Mitochondrial Complex I Deficiency, Nuclear Type 19	25
329		THM026	Thiamine Deficiency Disease	24
330		MTC155	Mitochondrial Complex I Deficiency, Nuclear Type 7	24
331	c	HYP882	Hypogonadotropic Hypogonadism 26 with or Without Anosmia	24
332	c	MLT167	Multiple Mitochondrial Dysfunctions Syndrome 6	24
333	c	TYP039	Type 1 Diabetes Mellitus 17	24
334		ATY025	Atypical Glycine Encephalopathy	24
335		MTC209	Mitochondrial Complex Iv Deficiency, Nuclear Type 6	24
336		TRN067	Transcobalamin I Deficiency	24
337	c	TYP052	Type 1 Diabetes Mellitus 19	23
338		PYR009	Pyridoxine Deficiency Anemia	23
339	c	INT262	Intermediate Maple Syrup Urine Disease	23
340		MTC159	Mitochondrial Complex I Deficiency, Nuclear Type 11	23
341		MTC154	Mitochondrial Complex I Deficiency, Nuclear Type 6	23
342		ACD011	Acid Phosphatase Deficiency	23
343	c	TYP049	Type 2 Diabetes Mellitus 2	23
344		MTC165	Mitochondrial Complex I Deficiency, Nuclear Type 18	22
345		MTC157	Mitochondrial Complex I Deficiency, Nuclear Type 9	22
346		GLY052	Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset	22
347		CMB086	Combined Oxidative Phosphorylation Deficiency 36	22
348		MTC172	Mitochondrial Complex I Deficiency, Nuclear Type 26	22
349		MTC160	Mitochondrial Complex I Deficiency, Nuclear Type 13	22
350		MTC168	Mitochondrial Complex I Deficiency, Nuclear Type 22	22
351		MTC175	Mitochondrial Complex I Deficiency, Nuclear Type 29	22
352		MTC147	Mitochondrial Complex I Deficiency, Nuclear Type 12	22
353		MTC171	Mitochondrial Complex I Deficiency, Nuclear Type 25	22
354		CTR189	Cataracts, Spastic Paraparesis, and Speech Delay	22
355		CMB104	Combined Oxidative Phosphorylation Deficiency 48	22
356		NCL010	Nuclear Type Mitochondrial Complex I Deficiency	22
357	c	TYP058	Type 2 Diabetes 5	22
358		ATK002	Atkin-Flaitz Syndrome	21
359		PHS030	Phosphoribosylaminoimidazole Carboxylase Deficiency	21
360	c	PRT135	Protoporphyria, Erythropoietic, 2	21
361		MTC181	Mitochondrial Dna-Related Progressive External Ophthalmoplegia	21
362		MTC177	Mitochondrial Complex I Deficiency, Nuclear Type 32	21
363		AMP011	Ampola Syndrome	21
364		MTC090	Mitochondrial Complex Iii Deficiency, Nuclear Type 6	20
365		CMB099	Combined Oxidative Phosphorylation Deficiency 43	20
366	c	HYP883	Hypogonadotropic Hypogonadism 27 Without Anosmia	20
367	c	HYP886	Hypoalphalipoproteinemia, Primary, 2, Intermediate	20
368		MLD011	Mild Hyperphenylalaninemia	20
369		MTC173	Mitochondrial Complex I Deficiency, Nuclear Type 27	20
370	P	ERY016	Erythropoietic Protoporphyria, Autosomal Recessive	20
371		MTC174	Mitochondrial Complex I Deficiency, Nuclear Type 28	20
372		HYD031	Hydroxyprolinemia	20
373	c	TYS005	Tay-Sachs Disease, B1 Variant	19
374	c	ACQ002	Acquired Night Blindness	19
375		GLY074	Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset	19
376		CHL110	Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency	19
377		PHS019	Phosphohydroxylysinuria	18
378		MTC170	Mitochondrial Complex I Deficiency, Nuclear Type 24	18
379	c	PRM150	Primary Localized Amyloidosis	18
380	c	MPV002	Mpv17-Related Mitochondrial Dna Maintenance Defect	18
381	c	TYP037	Type 1 Diabetes Mellitus 13	17
382	c	TYP051	Type 2 Diabetes Mellitus 4	17
383	c	TYP040	Type 1 Diabetes Mellitus 18	17
384		MGL039	Megaloblastic Anemia, Folate-Responsive	17
385	c	TYP050	Type 2 Diabetes Mellitus 3	15
386		XYL001	Xylt1-Cdg	15
387		THM018	Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	14
388		CHR474	Chronic Diarrhea Due to Glucoamylase Deficiency	13
389		MTC191	Mitochondrial Dna-Related Mitochondrial Myopathy	12
390	P	MTC140	Mitochondrial Dna Maintenance Defects	12
391		MTC033	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form	12
392		DSR083	Disorder of Amino Acid Absorption and Transport	12
393	c	INT094	Intermediate Severe Salla Disease	10
394		HRD143	Hereditary Hypercarotenemia and Vitamin a Deficiency	10
395	c	LCT020	Lactic Acidosis, Chronic Adult Form	9
396	c	CNG628	Congenital Disorder of Glycosylation Iw	9
397		MTH046	Methylmalonic Acidemia Without Homocystinuria	7
398	c	RRD067	Rare Diabetes Mellitus	7
399	c	DBT096	Diabetes Mellitus, Congenital Autoimmune	7
400	c	HYP851	Hypotonia-Cystinuria Type 1 Syndrome	7
401	P	DSR041	Disorder of Multiple Glycosylation	6
402		TRN050	Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency	6
403		TTR032	Tetrahydrobiopterin -Deficient Hyperphenylalaninemia	6
404		DSR032	Disorder of Manganese Transport	6
405	c	MTC192	Mitochondrial Oxidative Phosphorylation Disorder Due to a Point Mutation of Mitochondrial Dna	6
406		MTC231	Mitochondrial Type Mitochondrial Complex I Deficiency	6
407	c	MTC190	Mitochondrial Oxidative Phosphorylation Disorder Due to Mitochondrial Dna Anomalies	6
408	c	RRD012	Rare Diabetes Mellitus Type 1	5
409	c	RRD013	Rare Diabetes Mellitus Type 2	5
410		ISL027	Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type	5
411		EXR009	Exercise Intolerance with Lactic Acidosis	5
412	c	LCT010	Lactic Acidosis Congenital Infantile	5
413		CRB012	Cerebral Folate Receptor Alpha Deficiency	5
414		STR107	Sterol Biosynthesis Disorder	4
415		DFC009	Defect in V-Atpase	4
416		GLY110	Glycogen Storage Disease Due to Glycogen Synthase Deficiency	4
417		DSR040	Disorder of Glycosphingolipid and Glycosylphosphatidylinositol Anchor Glycosylation	4
418		MTH003	Methylmalonic Aciduria and Homocystinuria Type Cble	4
419		DFC008	Defect in Conserved Oligomeric Golgi Complex	4
420		DSR054	Disorder of Lipid Absorption and Transport	4
421		MTC185	Mitochondrial Substrate Carrier Disorder	4
422		DSR015	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis	4
423		GLC109	Glucose Transport Disorder	4
424		DSR044	Disorder of Lysosomal-Related Organelles	4
425	c	HMC017	Homocystinuria Due to Defect in Methylation Cbl E	4
426		SRN004	Serine Biosynthesis Pathway Deficiency, Infantile/juvenile Form	3
427		UNS003	Unspecified Mitochondrial Disorder	3
428		DSR046	Disorder of O-Mannosylglycan Synthesis	3
429		DSR049	Disorder of O-Xylosyl/n-Acetylgalactosaminylglycan Synthesis	3
430		DSR066	Disorder of Ketolysis	3
431		DSR065	Disorder of Lysosomal Amino Acid Transport	3
432		GLT041	Glutatione Synthetase Deficiency with 5-Oxoprolinuria	3
433		DSR048	Disorder of O-N-Acetylgalactosaminylglycan Synthesis	3
434		DSR063	Disorder of Plasmalogens Biosynthesis	2
435		MNT318	Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome	35
436	c	SRF003	Surfactant Metabolism Dysfunction, Pulmonary, 2	37
437		CHN077	Chung-Jansen Syndrome	34
438	P	SRF005	Surfactant Metabolism Dysfunction, Pulmonary, 3	37
439	c	SRF004	Surfactant Metabolism Dysfunction, Pulmonary, 1	37
440	c	SRF008	Surfactant Metabolism Dysfunction, Pulmonary, 4	32
441	P	THY129	Thyroid Hormone Metabolism, Abnormal, 1	26
442	c	SRF007	Surfactant Metabolism Dysfunction, Pulmonary, 5	26
443		SRF006	Surfactant Dysfunction	37
444		MTB008	Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration	44
445		AYZ001	Ayazi Syndrome	9
446		RTN173	Retinal Dystrophy and Obesity	25
447	P	LVR013	Liver Disease	71
448	c	ACT134	Acute Liver Failure	57
449	c	INF145	Infantile Liver Failure Syndrome 1	45
450	c	LVR030	Liver Failure, Infantile, Transient	40
451	c	INF194	Infantile Liver Failure Syndrome	31
452	c	INF138	Infantile Liver Failure Syndrome 2	31
453	c	LVR033	Liver Disease, Severe Congenital	25
454	c	INF190	Infantile Liver Failure Syndrome 3	25
455	c	BRD016	Bardet-Biedl Syndrome 4	50
456	c	PSD092	Pseudohypoaldosteronism, Type Iie	47
457		SHR124	Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures	31
458		NTR002	Nutritional Optic Neuropathy	22
459	c	THY130	Thyroid Hormone Metabolism, Abnormal, 2	16
460		CMR005	Camera-Marugo-Cohen Syndrome	13
461		EFV001	Efavirenz, Poor Metabolism of	9
462	c	BRD012	Bardet-Biedl Syndrome 11	59
463	c	BRD011	Bardet-Biedl Syndrome 10	55
464	P	SHR001	Short Bowel Syndrome	52
465	c	BRD013	Bardet-Biedl Syndrome 12	51
466	c	FTT011	Fatty Liver Disease 1	50
467	c	BRD019	Bardet-Biedl Syndrome 7	44
468		CHR515	Chronic Atrial and Intestinal Dysrhythmia	44
469	c	BRD021	Bardet-Biedl Syndrome 9	43
470	P	SYN140	Syndrome with 46,xy Disorder of Sex Development	38
471		INT088	Intrinsic Factor Deficiency	37
472		CRT020	Cortisone Reductase Deficiency	37
473	c	RNL125	Renal Tubular Acidosis, Distal, 1	37
474		MTC108	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	34
475	P	HYP658	Hypoplastic Amelogenesis Imperfecta	30
476	c	AML006	Amelogenesis Imperfecta Hypoplastic Type, Ig	27
477		VLN001	Valinemia	20
478		MPL011	Maple Syrup Urine Disease, Mild Variant	20
479	c	46X060	46,xx Disorder of Sex Development	18
480	c	HRD219	Hereditary Distal Renal Tubular Acidosis	16
481	c	FTT012	Fatty Liver Disease 2	15
482	c	46X063	46,xy Disorder of Sex Development Due to Impaired Androgen Production	7
483	c	46X072	46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect	5
484	c	46X073	46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect	4
485	c	46X074	46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect	4
486	c	46X062	46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect	4
487		RRH020	Rare Hereditary Metabolic Disease with Peripheral Neuropathy	3
488		MTB018	Metabolic Disease with Intestinal Involvement	3
489	P	BDY004	Body Mass Index Quantitative Trait Locus 11	82
490	P	DMN001	Diamond-Blackfan Anemia	74
491	c	HYP836	Hypercholesterolemia, Familial, 1	72
492	P	TYS001	Tay-Sachs Disease	71
493		HRL003	Hurler Syndrome	69
494		ACR006	Aceruloplasminemia	69
495		LGH007	Leigh Syndrome	69
496	c	HRD010	Hereditary Spastic Paraplegia	68
497	P	GCH001	Gaucher's Disease	68
498	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	67
499	c	CNG411	Congenital Disorder of Glycosylation, Type in	67
500	c	TYR012	Tyrosinemia, Type I	67
501	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	66
502	c	GLY060	Glycogen Storage Disease Ia	66
503		HYP056	Hypoglycemia	65
504		CRN296	Carnitine Palmitoyltransferase Ii Deficiency, Infantile	65
505	P	CRG003	Crigler-Najjar Syndrome, Type I	65
506		MTC027	Mitochondrial Trifunctional Protein Deficiency	65
507	c	DMN023	Diamond-Blackfan Anemia 1	64
508	P	ENC018	Encephalopathy	64
509	P	ALC033	Alcohol Use Disorder	64
510		NTR005	Nutritional Deficiency Disease	64
511	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	63
512	c	ANM036	Anemia, Sideroblastic, 1	63
513	c	MCP044	Mucopolysaccharidosis, Type Iiib	62
514	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	61
515		GST033	Gestational Diabetes	61
516	P	SPN301	Spinocerebellar Ataxia 2	61
517		ERL001	Early Myoclonic Encephalopathy	61
518		ADN001	Adenosine Deaminase Deficiency	61
519	c	LPM012	Lipomatosis, Multiple	60
520		DBF001	D-Bifunctional Protein Deficiency	60
521	c	SPN309	Spinocerebellar Ataxia 6	60
522		IRN001	Iron Deficiency Anemia	59
523		ARG007	Argininemia	59
524		FRC011	Fructose Intolerance, Hereditary	59
525	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	59
526		DYS192	Dystonia, Dopa-Responsive	58
527	c	SPN330	Spondylocostal Dysostosis 5	58
528	P	ERY048	Erythrocytosis, Familial, 2	58
529	c	ERY058	Erythrocytosis, Familial, 1	58
530	P	TYR004	Tyrosinemia	58
531		BRT005	Barth Syndrome	57
532		VRG001	Variegate Porphyria	57
533		CRB150	Cerebral Creatine Deficiency Syndrome 2	57
534		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	57
535	c	HYP740	Hyperlipoproteinemia, Type V	57
536	P	CRP023	Carpenter Syndrome 1	57
537	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	57
538	c	MCL046	Mucolipidosis Iii Alpha/beta	57
539		CRN295	Carnitine Palmitoyltransferase I Deficiency	56
540	c	HMC009	Hemochromatosis Type 2	56
541	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	56
542	c	SPN294	Spinocerebellar Ataxia 1	56
543	c	SPN291	Spinocerebellar Ataxia 7	55
544	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	55
545		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	55
546	c	CRD259	Ceroid Lipofuscinosis, Neuronal, 6a	55
547		HYP060	Hyperinsulinism	55
548	c	HYP840	Hypercholesterolemia, Familial, 4	54
549		ENC055	Encephalopathy, Ethylmalonic	54
550	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	54
551		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	53
552		GLC003	Glucose Intolerance	53
553		PRS127	Pearson Marrow-Pancreas Syndrome	53
554	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	52
555		LPD016	Lipoid Proteinosis of Urbach and Wiethe	52
556	c	ACT078	Acute Porphyria	52
557		URC002	Urea Cycle Disorder	52
558	c	CNT075	Central Precocious Puberty	52
559		SCR037	Sucrase-Isomaltase Deficiency, Congenital	52
560	c	SPN106	Spinocerebellar Ataxia 5	52
561	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	52
562	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	52
563	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	52
564	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	52
565	P	SDR003	Sideroblastic Anemia	52
566		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	51
567	P	MTC133	Mitochondrial Myopathy	51
568	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	51
569	c	SPN311	Spinocerebellar Ataxia 13	51
570	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	51
571		LYS002	Lysosomal Storage Disease	51
572	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	51
573	P	FNC026	Fanconi Renotubular Syndrome 1	51
574		FRC001	Fructose-1,6-Bisphosphatase Deficiency	51
575	c	DBT104	Diabetes Mellitus, Permanent Neonatal, 1	51
576	P	PRM030	Permanent Neonatal Diabetes Mellitus	51
577	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	50
578		MTH077	Methylmalonic Aciduria, Cbla Type	50
579		NRN005	Neuronal Ceroid-Lipofuscinoses	50
580		HYP014	Hyperuricemia	50
581	c	HYP837	Hypercholesterolemia, Familial, 2	50
582	c	XNT010	Xanthinuria, Type I	50
583	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	50
584	c	INH020	Inherited Metabolic Disorder	50
585	c	HRD227	Hereditary Spastic Paraplegia 35	50
586	c	SPN100	Spinocerebellar Ataxia 27	50
587		MHR001	Mohr-Tranebjaerg Syndrome	49
588	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	49
589	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	49
590		MTH078	Methylmalonic Aciduria, Cblb Type	49
591	c	SPN296	Spinocerebellar Ataxia 17	49
592	c	CNG199	Congenital Disorder of Glycosylation, Type Im	49
593		TRS021	Triosephosphate Isomerase Deficiency	48
594		CNZ001	Coenzyme Q10 Deficiency Disease	48
595	c	SPN305	Spinocerebellar Ataxia 11	48
596	c	HYP597	Hyperprolinemia, Type Ii	48
597	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	48
598	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	48
599	c	SPN304	Spinocerebellar Ataxia 8	48
600	c	SPN293	Spinocerebellar Ataxia 12	48
601	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	48
602	c	CRG004	Crigler-Najjar Syndrome, Type Ii	48
603	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	47
604	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	47
605	c	SPN312	Spinocerebellar Ataxia 14	47
606	P	XNT004	Xanthinuria	47
607	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	47
608	c	3MT015	3-Methylglutaconic Aciduria, Type I	47
609	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	47
610		MTB004	Metabolic Acidosis	47
611	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	47
612	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	47
613	c	SPN314	Spinocerebellar Ataxia 10	46
614	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	46
615	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	46
616		HSD004	Hsd10 Mitochondrial Disease	46
617		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	46
618		LPD009	Lipid Storage Disease	46
619	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	46
620	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	46
621		HMS001	Hemosiderosis	46
622	P	HYP776	Hyperparathyroidism, Neonatal Severe	46
623	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	46
624	P	PRC019	Precocious Puberty	46
625	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	46
626		MRS001	Marasmus	46
627	P	LPM005	Lipomatosis	46
628	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	46
629	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	46
630	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	46
631		GLT005	Glutamate Formiminotransferase Deficiency	46
632	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	45
633	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	45
634		IMN001	Iminoglycinuria	45
635	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	45
636	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	45
637	c	DMN021	Diamond-Blackfan Anemia 6	45
638	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	45
639	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	45
640		SBL008	Sea-Blue Histiocyte Disease	45
641	c	DMN029	Diamond-Blackfan Anemia 11	45
642	P	SPN016	Spondylocostal Dysostosis	45
643	c	SPN104	Spinocerebellar Ataxia 34	45
644	c	HRD220	Hereditary Spastic Paraplegia 30	45
645		WRN004	Wrinkly Skin Syndrome	44
646	c	SPN101	Spinocerebellar Ataxia 29	44
647	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	44
648	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	44
649	c	SPN286	Spinocerebellar Ataxia 40	44
650	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	44
651	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	44
652	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	44
653		MCP033	Mucopolysaccharidoses	44
654	c	MTC116	Mitochondrial Myopathy, Infantile, Transient	44
655	c	SPN097	Spinocerebellar Ataxia 23	44
656	c	2HY001	2-Hydroxyglutaric Aciduria	44
657		GLT028	Glutaric Aciduria Iii	44
658	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	44
659	c	SPN266	Spinocerebellar Ataxia 35	44
660	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	44
661	c	SPN290	Spinocerebellar Ataxia 15	44
662	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	44
663	c	SPN283	Spinocerebellar Ataxia 37	44
664		PHS023	Phosphoserine Aminotransferase Deficiency	43
665	P	OCL001	Ocular Albinism	43
666		BTY001	Butyrylcholinesterase Deficiency	43
667	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	43
668	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	43
669	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	43
670	P	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	43
671	c	ERY064	Erythrocytosis, Familial, 6	43
672		OVR063	Overnutrition	43
673	c	ERY032	Erythrocytosis, Familial, 4	43
674		CNZ006	Coenzyme Q10 Deficiency, Primary, 1	43
675	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	43
676	c	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	43
677	c	HMC021	Hemochromatosis, Type 2a	43
678	c	NLX003	Neu-Laxova Syndrome 2	43
679	c	SPN247	Spinocerebellar Ataxia Type 19/22	43
680		INF159	Infantile Sialic Acid Storage Disease	43
681		TRN021	Transaldolase Deficiency	43
682	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	42
683	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	42
684	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	42
685	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	42
686		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	42
687	c	CNG379	Congenital Disorder of Glycosylation, Type It	42
688	c	SPN105	Spinocerebellar Ataxia 4	42
689	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	42
690	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	42
691	c	DMN006	Diamond-Blackfan Anemia 3	42
692	c	HYP272	Hypercholesterolemia, Familial, 3	42
693	c	SPN265	Spinocerebellar Ataxia 36	42
694	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	42
695	c	BRD048	Bardet-Biedl Syndrome 18	42
696	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	42
697	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	42
698	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	41
699	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	41
700		MLY001	Molybdenum Cofactor Deficiency	41
701	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	41
702		MLT150	Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia	41
703	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	41
704	c	ERY031	Erythrocytosis, Familial, 3	41
705		MTC029	Mitochondrial Complex V Deficiency, Nuclear Type 1	41
706	c	CNG195	Congenital Disorder of Glycosylation, Type Id	41
707		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	41
708	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	41
709	c	SPN096	Spinocerebellar Ataxia 21	41
710	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	41
711	P	HYP111	Hyperprolinemia	40
712	c	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
713	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	40
714	c	XNT011	Xanthinuria, Type Ii	40
715	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	40
716		CHR704	Chromosome 16p11.2 Deletion Syndrome	40
717		3MT011	3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	40
718	c	SPN099	Spinocerebellar Ataxia 26	40
719	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	40
720	c	SPN103	Spinocerebellar Ataxia 31	40
721	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	40
722	P	MYG005	Myoglobinuria	40
723	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	40
724	c	DMN017	Diamond-Blackfan Anemia 10	40
725	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	40
726	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	40
727	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	40
728		CMB025	Combined Oxidative Phosphorylation Deficiency 10	40
729	P	GLY112	Glycosylphosphatidylinositol Biosynthesis Defect 1	39
730	c	ERY067	Erythrocytosis, Familial, 8	39
731	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	39
732	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	39
733		CHL045	Choline Deficiency Disease	39
734		CLS049	Classic Phenylketonuria	39
735	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	39
736	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	39
737	c	PRX054	Peroxisome Biogenesis Disorder 12a	39
738	c	ERY065	Erythrocytosis, Familial, 7	39
739	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	39
740		HYP782	Hypoglycemia, Leucine-Induced	39
741	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	39
742	c	SPN419	Spinocerebellar Ataxia 45	39
743		SLT014	Salt and Pepper Developmental Regression Syndrome	38
744		MLN011	Malonyl-Coa Decarboxylase Deficiency	38
745		GTP002	Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia	38
746	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	38
747	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	38
748	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	38
749		CMB041	Combined Oxidative Phosphorylation Deficiency 13	38
750	c	BDY007	Body Mass Index Quantitative Trait Locus 1	38
751	c	DMN020	Diamond-Blackfan Anemia 8	38
752		PHS001	Phosphorus Metabolism Disease	38
753		MNR003	Mineral Metabolism Disease	38
754	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	38
755	c	DMN024	Diamond-Blackfan Anemia 7	38
756	c	SPS238	Spastic Paraplegia 81, Autosomal Recessive	37
757	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	37
758	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	37
759		DRR017	Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies	37
760	c	SPN102	Spinocerebellar Ataxia 30	37
761	c	PRX063	Peroxisome Biogenesis Disorder 2a	37
762	c	SPN418	Spinocerebellar Ataxia 44	37
763	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	36
764	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	36
765	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	36
766		BRN135	Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency	36
767	c	SPS239	Spastic Paraplegia 82, Autosomal Recessive	36
768	c	3MT007	3-Methylglutaconic Aciduria	36
769	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	36
770	c	ERY063	Erythrocytosis, Familial, 5	36
771	c	SPS237	Spastic Paraplegia 30, Autosomal Dominant	36
772	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	36
773	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	36
774	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	35
775	c	FNC034	Fanconi Renotubular Syndrome 2	35
776	c	3MT025	3-Methylglutaconic Aciduria, Type Viib	35
777		CMB016	Combined Oxidative Phosphorylation Deficiency 5	35
778		CMB046	Combined Oxidative Phosphorylation Deficiency 11	35
779	c	CNG188	Congenital Disorder of Glycosylation, Type if	35
780	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	35
781	c	HRD229	Hereditary Spastic Paraplegia 56	35
782	c	SPN383	Spinocerebellar Ataxia 42	35
783	c	SPS092	Spastic Paraplegia 11	35
784	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	35
785	c	SPN299	Spinocerebellar Ataxia 20	35
786		GLY111	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib	35
787		CMB044	Combined Oxidative Phosphorylation Deficiency 14	35
788	c	SPN095	Spinocerebellar Ataxia 19	35
789	c	EPL155	Epilepsy, Progressive Myoclonic, 8	35
790	c	SPN098	Spinocerebellar Ataxia 25	35
791		CRT091	Creatine Deficiency Disorders	35
792	c	SPN427	Spinocerebellar Ataxia 48	35
793		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	34
794	c	SPN094	Spinocerebellar Ataxia 18	34
795		HMX003	Heme Oxygenase 1 Deficiency	34
796		GLY033	Glycogen Storage Disease of Heart, Lethal Congenital	34
797	c	CRP022	Carpenter Syndrome 2	34
798	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	34
799		HYP524	Hypoinsulinemic Hypoglycemia with Hemihypertrophy	34
800		PHS022	Phosphoserine Phosphatase Deficiency	34
801	P	SPS012	Spastic Paraplegia 3a	34
802	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	34
803	c	PRX065	Peroxisome Biogenesis Disorder 3a	34
804	c	HRD226	Hereditary Spastic Paraplegia 49	33
805		GLY061	Glycogen Storage Disease 0, Muscle	33
806	c	DMN018	Diamond-Blackfan Anemia 5	33
807		CNG462	Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	33
808		GLY065	Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency	33
809	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
810		CHL050	Cholesterol Ester Storage Disease	33
811		MTH021	Methylmalonic Acidemia with Homocystinuria	33
812	c	SPS025	Spastic Paraplegia 15	32
813	c	ALC016	Alcohol Sensitivity, Acute	32
814	P	HRD207	Hereditary Transthyretin Amyloidosis	32
815		CMB013	Combined Oxidative Phosphorylation Deficiency 2	32
816	c	DMN005	Diamond-Blackfan Anemia 2	32
817		CNG427	Congenital Muscular Dystrophy with Intellectual Disability	32
818	c	PRP091	Porphyria Cutanea Tarda, Type I	32
819	c	DMN049	Diamond-Blackfan Anemia 20	32
820		KSH001	Keshan Disease	31
821	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	31
822		HYP719	Hyperglycinemia, Lactic Acidosis, and Seizures	31
823	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	31
824	c	SPS243	Spastic Paraplegia 85, Autosomal Recessive	31
825	c	SPN431	Spinocerebellar Ataxia, Autosomal Recessive 27	31
826	c	MYG007	Myoglobinuria, Recurrent	31
827		NRT006	North American Indian Childhood Cirrhosis	31
828	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	31
829	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	31
830	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	31
831	c	HYP445	Hypomagnesemia 6, Renal	30
832	c	PRC047	Precocious Puberty, Central, 1	30
833		CNG426	Congenital Muscular Dystrophy with Cerebellar Involvement	30
834		MTL002	Metal Metabolism Disorder	30
835	c	SPS240	Spastic Paraplegia 83, Autosomal Recessive	30
836		BDV001	Bdv Syndrome	30
837	P	ACQ009	Acquired Metabolic Disease	30
838	c	SPS244	Spastic Paraplegia 86, Autosomal Recessive	30
839	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	29
840		MTH040	Methylmalonyl-Coa Epimerase Deficiency	29
841	c	HRD186	Hereditary Spastic Paraplegia 51	29
842	c	DBT107	Diabetes Mellitus, Permanent Neonatal, 4	29
843	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	29
844	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	29
845	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	29
846		CRB155	Carbonic Anhydrase Va Deficiency	29
847	c	SPS242	Spastic Paraplegia 84, Autosomal Recessive	29
848	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
849	c	SPN372	Spinocerebellar Ataxia 43	29
850	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	29
851	c	HRD188	Hereditary Spastic Paraplegia 72	29
852	c	FNC066	Fanconi Renotubular Syndrome 5	29
853	c	DMN022	Diamond-Blackfan Anemia 9	29
854	c	SPS091	Spastic Paraplegia 4	29
855	c	ALB016	Albinism, Oculocutaneous, Type Vii	29
856	c	GLY103	Glycosylphosphatidylinositol Biosynthesis Defect 15	28
857	c	ENC066	Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2	28
858	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	28
859		DSR052	Disorder of Glyoxylate Metabolism	28
860		PRN024	Purine-Pyrimidine Metabolic Disorder	28
861	c	PRX091	Peroxisome Biogenesis Disorder 8a	28
862	c	SPN421	Spinocerebellar Ataxia 47	28
863	c	SPS013	Spastic Paraplegia 8	28
864		WTB001	Wet Beriberi	28
865	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	28
866	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	28
867	c	DMN019	Diamond-Blackfan Anemia 4	28
868	c	GLY093	Glycogen Storage Disease Ixa	28
869	c	HYP873	Hypercholanemia, Familial, 2	28
870	c	DBT105	Diabetes Mellitus, Permanent Neonatal, 2	27
871	c	CNG626	Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive	27
872	c	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	27
873		LPY002	Lipoyltransferase 1 Deficiency	27
874	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	27
875	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
876		CMB085	Combined Oxidative Phosphorylation Deficiency 35	27
877	c	SPN451	Spinocerebellar Ataxia, Autosomal Recessive 29	27
878	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	27
879	c	SPN420	Spinocerebellar Ataxia 46	26
880	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	26
881		PYR035	Pyrimidine Metabolic Disorder	26
882	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	26
883	P	MTC195	Mitochondrial Oxidative Phosphorylation Disorder	26
884		MTC178	Mitochondrial Complex I Deficiency, Nuclear Type 33	26
885	c	SPN458	Spinocerebellar Ataxia 49	26
886		CMB072	Combined Oxidative Phosphorylation Deficiency 28	26
887	c	HYP872	Hypercholanemia, Familial 1	26
888	c	SPN323	Spinocerebellar Ataxia 41	26
889	c	CNG623	Congenital Disorder of Glycosylation, Type Iiw	26
890	c	SPN455	Spinocerebellar Ataxia, Autosomal Recessive 31	26
891	c	HYP831	Hyperparathyroidism, Transient Neonatal	26
892	c	DBT106	Diabetes Mellitus, Permanent Neonatal, 3	26
893	c	CNG622	Congenital Disorder of Glycosylation, Type 2v	26
894	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	25
895	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	25
896	P	HFH002	Hfe Hemochromatosis	25
897		CRB041	Carboxypeptidase N Deficiency	25
898	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	25
899		SDD011	Siddiqi Syndrome	25
900		CNG428	Congenital Muscular Dystrophy Without Intellectual Disability	25
901		CNG512	Congenital Disorder of Glycosylation, Type Iaa	25
902	c	DMN045	Diamond-Blackfan Anemia-Like	25
903	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	25
904		DSR074	Disorder of Purine Metabolism	25
905		MYC030	Myoclonic Epilepsy Myopathy Sensory Ataxia	24
906	P	VTM003	Vitamin Metabolic Disorder	24
907	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	24
908	c	CNG627	Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant	24
909	c	HRD210	Hereditary Spastic Paraplegia 23	24
910		ENC050	Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities	24
911	c	SPN440	Spinocerebellar Ataxia, Autosomal Recessive 28	24
912	c	DMN028	Diamond-Blackfan Anemia 12	24
913		MTC162	Mitochondrial Complex I Deficiency, Nuclear Type 15	24
914	P	FML367	Familial Hypercholanemia	24
915	c	SPS042	Spastic Paraplegia 9	24
916	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	23
917		ISL082	Isolated Atp Synthase Deficiency	23
918		CMB103	Combined Oxidative Phosphorylation Deficiency 47	23
919	c	SPS230	Spastic Paraplegia Type 49	23
920	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	23
921		HMC036	Homocystinuria Without Methylmalonic Aciduria	23
922		MTC176	Mitochondrial Complex I Deficiency, Nuclear Type 31	23
923	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	23
924	c	GLY001	Glycogen Storage Disease Ix	23
925		MTC169	Mitochondrial Complex I Deficiency, Nuclear Type 23	23
926		CNZ012	Coenzyme Q10 Deficiency, Primary, 9	23
927	c	FNC049	Fanconi Renotubular Syndrome 3	23
928	c	SPN452	Spinocerebellar Ataxia, Autosomal Recessive 30	23
929	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	23
930		LYS024	Lysosomal and Lipase Deficiency	23
931		IMM248	Immunoglobulin Heavy-and-Light Chain	23
932	c	DMN030	Diamond-Blackfan Anemia 13	23
933		ISL116	Isolated Complex Iii Deficiency	23
934		MTC211	Mitochondrial Complex Iv Deficiency, Nuclear Type 13	22
935	c	TFR001	Tfr2-Related Hereditary Hemochromatosis	22
936	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	22
937		MTC203	Mitochondrial Complex I Deficiency, Nuclear Type 34	22
938		MTC156	Mitochondrial Complex I Deficiency, Nuclear Type 8	22
939	c	SPN459	Spinocerebellar Ataxia, Autosomal Recessive 32	22
940		CMB107	Combined Oxidative Phosphorylation Deficiency 51	22
941		MTC095	Mitochondrial Complex Iii Deficiency, Nuclear Type 7	22
942		MTC214	Mitochondrial Complex I Deficiency, Nuclear Type 35	22
943	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	22
944		LPD042	Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency	22
945	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	21
946		ATX038	Ataxia and Polyneuropathy, Adult-Onset	21
947		PRK103	Parkinsonism with Polyneuropathy	21
948		MTC161	Mitochondrial Complex I Deficiency, Nuclear Type 14	21
949		MTC201	Mitochondrial Complex V Deficiency, Nuclear Type 6	21
950		CMB101	Combined Oxidative Phosphorylation Deficiency 45	21
951	c	ANM034	Anemia, Sideroblastic, 4	21
952		MTC089	Mitochondrial Complex Iii Deficiency, Nuclear Type 3	21
953	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	21
954	c	ADL071	Adult Krabbe Disease	21
955		CMB097	Combined Oxidative Phosphorylation Deficiency 41	21
956	c	DMN040	Diamond-Blackfan Anemia 16	20
957	c	SPN259	Spinocerebellar Ataxia 32	20
958		MTC148	Mitochondrial Complex I Deficiency, Nuclear Type 30	20
959	c	RRH023	Rare Hereditary Hemochromatosis	20
960	c	DMN039	Diamond-Blackfan Anemia 17	20
961	c	DMN047	Diamond-Blackfan Anemia 18	20
962	P	DSR081	Disorder of Bile Acid Synthesis	19
963		CMB090	Combined Oxidative Phosphorylation Deficiency 38	19
964		PRM138	Pure Mitochondrial Myopathy	19
965		MTC098	Mitochondrial Complex Iii Deficiency, Nuclear Type 9	19
966	c	SPS246	Spastic Paraplegia 87, Autosomal Recessive	19
967		MLT155	Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	19
968	c	ANM079	Anemia, Sideroblastic, 5	19
969	c	DMN050	Diamond-Blackfan Anemia 21	19
970	c	DMN048	Diamond-Blackfan Anemia 19	18
971		GLY085	Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency	18
972		CMB106	Combined Oxidative Phosphorylation Deficiency 50	18
973		CNG607	Congenital Disorder of Glycosylation, Type Icc	18
974	c	MTH069	Methylmalonic Acidemia Due to Transcobalamin Receptor Defect	18
975	c	SPS248	Spastic Paraplegia 88, Autosomal Dominant	18
976	c	GLY116	Glycosylphosphatidylinositol Biosynthesis Defect 25	18
977	c	MYG006	Myoglobinuria, Autosomal Dominant	17
978		HYD055	Hydroxylysinuria	17
979	c	SPN107	Spinocerebellar Ataxia 9	16
980		CMB102	Combined Oxidative Phosphorylation Deficiency 46	16
981		LKT001	Leukotriene C4 Synthase Deficiency	16
982		CMB105	Combined Oxidative Phosphorylation Deficiency 49	16
983	c	CHR471	Chronic Hepatic Porphyria	16
984	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	16
985		URD003	Uridine-Cytidineuria	16
986		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	16
987	c	MTC199	Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis	15
988		PRD033	Periodic Paralysis with Later-Onset Distal Motor Neuropathy	15
989		TRC120	Tricarboxylic Acid Cycle, Defect of	15
990	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	15
991		MTC149	Mitochondrial Complex I Deficiency, Mitochondrial Type 1	15
992	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	15
993		INT043	Intestinal Disaccharidase Deficiency	15
994	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	14
995	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	14
996	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	14
997	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	14
998		ZLL010	Zellweger-Like Syndrome Without Peroxisomal Anomalies	13
999		INF171	Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	13
1000	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	13
1001	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	13
1002		GLT042	Glutathione Synthetase Deficiency of Erythrocytes	13
1003		LYS028	Lysosomal Glycogen Storage Disease	13
1004		OLG024	Oligosaccharidosis	12
1005		DSR078	Disorder of Branched-Chain Amino Acid Metabolism	12
1006		IDP068	Idiopathic Malabsorption Due to Bile Acid Synthesis Defects	12
1007		HYP485	Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency	12
1008		OTH021	Other Metabolic Disease	12
1009	c	STX006	Stxbp1-Related Encephalopathy	11
1010		DRR012	Diarrhea, Chronic, with Villous Atrophy	11
1011		ERY024	Erythropoietic Uroporphyria Associated with Myeloid Malignancy	11
1012	P	CHY007	Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase	11
1013		LPC004	Lipoic Acid Biosynthesis Defects	10
1014	c	BDY009	Body Mass Index Quantitative Trait Locus 3	10
1015	c	ADL083	Adult-Onset Citrullinemia Type I	10
1016	c	FNC067	Fanconi Renotubular Syndrome 4	10
1017		PRM376	Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	10
1018	c	SCN039	Secondary Central Precocious Puberty	10
1019	c	ENC068	Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	9
1020		CRB213	Cerebral Organic Aciduria	9
1021		TRN049	Transient Tyrosinemia of the Newborn	9
1022	c	BDY016	Body Mass Index Quantitative Trait Locus 13	9
1023	c	ACT189	Acute Neonatal Citrullinemia Type I	9
1024	c	TYS006	Tay-Sachs Disease, B Variant, Adult Form	9
1025	c	PSD023	Pseudo-Gaucher Disease	9
1026		CDC005	Cad-Cdg	9
1027	c	MTC183	Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies	8
1028		HRM024	Hermansky-Pudlak Syndrome Due to Ap-3 Deficiency	8
1029	c	BDY013	Body Mass Index Quantitative Trait Locus 5	8
1030	c	BDY018	Body Mass Index Quantitative Trait Locus 15	8
1031	c	BDY008	Body Mass Index Quantitative Trait Locus 2	8
1032		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	8
1033	c	MLT169	Multiple Mitochondrial Dna Deletion Syndrome	8
1034	c	DSR045	Disorder of Protein N-Glycosylation	8
1035		DSR057	Disorder of Glycolysis	8
1036	c	BDY014	Body Mass Index Quantitative Trait Locus 6	8
1037	P	PRX076	Peroxisomal Beta-Oxidation Disorder	7
1038	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	7
1039	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	7
1040		TTR020	Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria	7
1041	c	RRP025	Rare Precocious Puberty	7
1042	c	SPS040	Spastic Paraplegia 5b	7
1043		SPS235	Spastic Ataxia-Dysarthria Due to Glutaminase Deficiency	7
1044		RRD066	Rare Dyslipidemia	6
1045		DSR021	Disorder of Lysine and Hydroxylysine Metabolism	6
1046	c	GRD008	Grid2-Related Spinocerebellar Ataxia	6
1047		MTC180	Mitochondrial Dna-Related Dystonia	6
1048	c	MTC189	Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna	6
1049		NLX008	Neu-Laxova Syndrome Due to 3-Phosphoserine Phosphatase Deficiency	5
1050		DSR030	Disorder of Iron Metabolism and Transport	5
1051		DSR069	Disorder of Pentose Phosphate Metabolism	5
1052		GLC108	Gluconeogenesis Disorder	5
1053	P	RRH027	Rare Hypercholesterolemia	5
1054	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	5
1055		DSR075	Disorder of Pyridoxine Metabolism	5
1056		DSR071	Disorder of Glycerol Metabolism	5
1057		DSR033	Disorder of Metabolite Absorption and Transport	5
1058		DSR039	Disorder of Vitamin and Non-Protein Cofactor Absorption and Transport	4
1059		DSR051	Disorder of Carbohydrate Absorption and Transport	4
1060		DSR038	Disorder of Catecholamine Synthesis	4
1061		DSR059	Disorder of Carnitine Cycle and Carnitine Transport	4
1062	c	ATS408	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3	4
1063		DSR061	Disorder of Keton Body Transport	4
1064		MTH002	Methylmalonic Aciduria and Homocystinuria Type Cblg	4
1065	c	MTB012	Metabolic Disease Due to Other Fatty Acid Oxidation Disorder	4
1066		STR106	Sterol Metabolism Disorder	4
1067		DSR029	Disorder of Zinc Metabolism and Transport	4
1068		RRH007	Rare Hypolipidemia	4
1069		DSR053	Disorder of Fatty Acid Oxidation and Ketogenesis	4
1070		ISL137	Isolated Oxidative Phosphorylation Complex Disorder	3
1071	c	FML359	Familial Chylomicronemia Due to Inhibition of Lipoprotein Lipase Activity	3
1072		MTC186	Mitochondrial Protein Import Disorder	3
1073		MTC187	Mitochondrial Oxidative Phosphorylation Disorder with No Known Mechanism	3
1074		DSR028	Disorder of Magnesium Transport	3
1075		DSR043	Disorder of O-Xylosylglycan Synthesis	3
1076		DSR047	Disorder of Fucoglycosan Synthesis	3
1077		ADN058	Adenylosuccinase Lyase Deficiency	3
1078		AMN004	Aminoacylase Deficiency	3
1079		DSR085	Disorder of Amino Acid and Other Organic Acid Metabolism	3
1080		DSR062	Disorders of Pentose/polyol Metabolism	3
1081		MHM001	Mehmo Syndrome	49
1082		ERY061	Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige	38
1083		BRJ001	Borjeson-Forssman-Lehmann Syndrome	52
1084	P	SYN080	Syndromic X-Linked Intellectual Disability 34	40
1085	c	SYN078	Syndromic X-Linked Intellectual Disability Type 10	29
1086	c	SYN064	Syndromic X-Linked Intellectual Disability	28
1087	c	SYN082	Syndromic X-Linked Intellectual Disability 14	23
1088	c	SYN170	Syndromic X-Linked Intellectual Disability 94	20
1089	c	SYN179	Syndromic X-Linked Intellectual Disability 17	20
1090	c	SYN056	Syndromic X-Linked Intellectual Disability 7	19
1091	c	SYN077	Syndromic X-Linked Intellectual Disability 12	16
1092		SKL034	Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus	14
1093	P	PLY011	Polycystic Ovary Syndrome	59
1094		ULN003	Ulnar-Mammary Syndrome	58
1095		CLR029	Clark-Baraitser Syndrome	54
1096	P	BRT053	Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness	50
1097	c	PLY105	Polycystic Ovary Syndrome 1	43
1098		NST002	Nestor-Guillermo Progeria Syndrome	37
1099	c	INT483	Intellectual Developmental Disorder, Autosomal Dominant 1	50
1100	c	INT520	Intellectual Developmental Disorder, Autosomal Dominant 7	46
1101	c	INT548	Intellectual Developmental Disorder, Autosomal Dominant 36	43
1102	c	INT538	Intellectual Developmental Disorder, Autosomal Dominant 23	42
1103	c	INT539	Intellectual Developmental Disorder, Autosomal Dominant 26	39
1104	c	INT536	Intellectual Developmental Disorder, Autosomal Dominant 21	39
1105	c	INT533	Intellectual Developmental Disorder, Autosomal Dominant 13	39
1106	c	PSD117	Pseudohypoparathyroidism, Type Ic	38
1107	c	ATS525	Autosomal Dominant Intellectual Developmental Disorder 8	38
1108	c	INT542	Intellectual Developmental Disorder, Autosomal Dominant 29	37
1109	c	INT516	Intellectual Developmental Disorder, Autosomal Dominant 5	37
1110	c	INT547	Intellectual Developmental Disorder, Autosomal Dominant 35	37
1111	c	INT513	Intellectual Developmental Disorder, Autosomal Dominant 22	36
1112	c	INT453	Intellectual Developmental Disorder, Autosomal Dominant 42	36
1113	c	INT455	Intellectual Developmental Disorder, Autosomal Dominant 56	35
1114	c	INT550	Intellectual Developmental Disorder, Autosomal Dominant 41	34
1115	c	INT514	Intellectual Developmental Disorder, Autosomal Dominant 3	32
1116	c	INT551	Intellectual Developmental Disorder, Autosomal Dominant 43	32
1117	c	GLY017	Glycogen Storage Disease Ic	32
1118	c	INT557	Intellectual Developmental Disorder, Autosomal Dominant 48	32
1119	c	INT507	Intellectual Developmental Disorder, Autosomal Recessive 5	31
1120	P	ATS522	Autosomal Dominant Intellectual Developmental Disorder	31
1121	c	INT555	Intellectual Developmental Disorder, Autosomal Dominant 46	30
1122	c	INT549	Intellectual Developmental Disorder, Autosomal Dominant 38	30
1123	c	INT537	Intellectual Developmental Disorder, Autosomal Recessive 41	30
1124	c	INT472	Intellectual Developmental Disorder, Autosomal Recessive 39	29
1125	c	INT546	Intellectual Developmental Disorder, Autosomal Dominant 33	29
1126	c	ATS526	Autosomal Dominant Intellectual Developmental Disorder 19	29
1127	c	INT556	Intellectual Developmental Disorder, Autosomal Dominant 47	29
1128	c	INT521	Intellectual Developmental Disorder, Autosomal Dominant 2	29
1129	c	INT505	Intellectual Developmental Disorder, Autosomal Recessive 2	29
1130	c	INT560	Intellectual Developmental Disorder, Autosomal Dominant 52	28
1131	c	INT460	Intellectual Developmental Disorder, Autosomal Recessive 38	28
1132	c	INT554	Intellectual Developmental Disorder, Autosomal Dominant 45	28
1133	c	ATS527	Autosomal Dominant Intellectual Developmental Disorder 31	28
1134	c	INT566	Intellectual Developmental Disorder, Autosomal Dominant 58	27
1135	c	INT475	Intellectual Developmental Disorder, Autosomal Dominant 39	27
1136	c	INT562	Intellectual Developmental Disorder, Autosomal Dominant 54	27
1137	c	INT563	Intellectual Developmental Disorder, Autosomal Dominant 57	27
1138	c	INT517	Intellectual Developmental Disorder, Autosomal Recessive 13	27
1139	c	INT535	Intellectual Developmental Disorder, Autosomal Recessive 37	27
1140	c	ATS523	Autosomal Recessive Intellectual Developmental Disorder	26
1141	c	INT393	Intellectual Developmental Disorder, Autosomal Dominant 64	26
1142	c	INT545	Intellectual Developmental Disorder, Autosomal Recessive 48	26
1143	c	INT558	Intellectual Developmental Disorder, Autosomal Recessive 61	26
1144	c	INT515	Intellectual Developmental Disorder, Autosomal Dominant 4	26
1145	c	INT561	Intellectual Developmental Disorder, Autosomal Dominant 53	26
1146	c	INT544	Intellectual Developmental Disorder, Autosomal Recessive 46	25
1147	c	INT567	Intellectual Developmental Disorder, Autosomal Recessive 65	25
1148	c	INT508	Intellectual Developmental Disorder, Autosomal Recessive 7	25
1149	c	INT388	Intellectual Developmental Disorder, Autosomal Dominant 62	25
1150	c	INT348	Intellectual Developmental Disorder, Autosomal Recessive 71	24
1151	c	INT506	Intellectual Developmental Disorder, Autosomal Recessive 3	24
1152	c	INT523	Intellectual Developmental Disorder, Autosomal Dominant 10	24
1153	c	ATS524	Autosomal Dominant Intellectual Developmental Disorder 6	24
1154	c	INT471	Intellectual Developmental Disorder, Autosomal Recessive 27	24
1155	c	INT400	Intellectual Developmental Disorder, Autosomal Dominant 65	24
1156	c	INT344	Intellectual Developmental Disorder, Autosomal Recessive 69	24
1157	c	INT336	Intellectual Developmental Disorder, Autosomal Recessive 68	24
1158	c	INT385	Intellectual Developmental Disorder, Autosomal Dominant 61	24
1159	c	INT478	Intellectual Developmental Disorder, Autosomal Recessive 57	24
1160	c	INT559	Intellectual Developmental Disorder, Autosomal Dominant 51	24
1161	c	INT479	Intellectual Developmental Disorder, Autosomal Recessive 58	24
1162	c	INT477	Intellectual Developmental Disorder, Autosomal Recessive 74	24
1163	c	INT335	Intellectual Developmental Disorder, Autosomal Recessive 67	23
1164	c	INT462	Intellectual Developmental Disorder, Autosomal Dominant 34	23
1165	c	INT345	Intellectual Developmental Disorder, Autosomal Recessive 70	23
1166	c	INT540	Intellectual Developmental Disorder, Autosomal Recessive 44	23
1167	c	INT484	Intellectual Developmental Disorder, Autosomal Recessive 1	23
1168	c	INT364	Intellectual Developmental Disorder, Autosomal Recessive 72	23
1169	c	INT468	Intellectual Developmental Disorder, Autosomal Recessive 66	23
1170	c	ATS529	Autosomal Dominant Intellectual Developmental Disorder 40	22
1171	c	INT398	Intellectual Developmental Disorder, Autosomal Recessive 12	22
1172	c	INT452	Intellectual Developmental Disorder, Autosomal Recessive 6	22
1173	c	INT575	Intellectual Developmental Disorder, Autosomal Dominant 67	22
1174	c	INT519	Intellectual Developmental Disorder, Autosomal Recessive 14	22
1175	c	INT474	Intellectual Developmental Disorder, Autosomal Recessive 43	22
1176	c	INT553	Intellectual Developmental Disorder, Autosomal Recessive 60	21
1177	c	INT480	Intellectual Developmental Disorder, Autosomal Recessive 73	21
1178	c	INT565	Intellectual Developmental Disorder, Autosomal Recessive 64	21
1179	c	INT386	Intellectual Developmental Disorder, Autosomal Dominant 59	21
1180	c	INT577	Intellectual Developmental Disorder, Autosomal Dominant 68	21
1181	c	INT579	Intellectual Developmental Disorder, Autosomal Recessive 77	21
1182	c	INT573	Intellectual Developmental Disorder, Autosomal Dominant 66	21
1183	c	INT464	Intellectual Developmental Disorder, Autosomal Recessive 51	21
1184	c	INT534	Intellectual Developmental Disorder, Autosomal Recessive 35	20
1185		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	20
1186	c	INT564	Intellectual Developmental Disorder, Autosomal Recessive 63	20
1187	c	INT512	Intellectual Developmental Disorder, Autosomal Recessive 4	19
1188	c	INT467	Intellectual Developmental Disorder, Autosomal Recessive 56	19
1189	c	INT461	Intellectual Developmental Disorder, Autosomal Recessive 47	18
1190	c	INT576	Intellectual Developmental Disorder, Autosomal Recessive 76	18
1191	c	INT541	Intellectual Developmental Disorder, Autosomal Recessive 45	18
1192	c	INT509	Intellectual Developmental Disorder, Autosomal Recessive 9	18
1193	c	INT463	Intellectual Developmental Disorder, Autosomal Recessive 50	18
1194	c	INT466	Intellectual Developmental Disorder, Autosomal Recessive 54	18
1195	c	INT465	Intellectual Developmental Disorder, Autosomal Recessive 52	17
1196	c	INT531	Intellectual Developmental Disorder, Autosomal Recessive 25	17
1197	c	INT510	Intellectual Developmental Disorder, Autosomal Recessive 10	17
1198	c	INT552	Intellectual Developmental Disorder, Autosomal Recessive 59	17
1199	c	INT527	Intellectual Developmental Disorder, Autosomal Recessive 30	16
1200	c	INT526	Intellectual Developmental Disorder, Autosomal Recessive 33	16
1201	c	INT530	Intellectual Developmental Disorder, Autosomal Recessive 24	16
1202	c	INT525	Intellectual Developmental Disorder, Autosomal Recessive 29	16
1203	c	INT522	Intellectual Developmental Disorder, Autosomal Recessive 16	15
1204	c	INT532	Intellectual Developmental Disorder, Autosomal Recessive 28	15
1205	c	INT529	Intellectual Developmental Disorder, Autosomal Recessive 23	15
1206	c	INT572	Intellectual Developmental Disorder, Autosomal Dominant 69	15
1207	c	INT524	Intellectual Developmental Disorder, Autosomal Recessive 31	14
1208	c	INT511	Intellectual Developmental Disorder, Autosomal Recessive 11	14
1209	c	INT528	Intellectual Developmental Disorder, Autosomal Recessive 19	14
1210		RRM017	Rare Metabolic Liver Disease	8
1211	c	ATS531	Autosomal Recessive Intellectual Developmental Disorder 75	6
1212	c	ATS530	Autosomal Recessive Intellectual Developmental Disorder 34	5
1213	P	PRK057	Parkinson Disease, Late-Onset	81
1214	c	MCP050	Mucopolysaccharidosis, Type Ii	74
1215	P	MTC003	Metachromatic Leukodystrophy	72
1216	c	HYP331	Hyperphenylalaninemia, Bh4-Deficient, a	71
1217	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	70
1218	c	MCP052	Mucopolysaccharidosis, Type Vi	70
1219	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	69
1220	c	FML021	Familial Hypercholesterolemia	69
1221	P	KRB001	Krabbe Disease	69
1222	P	PRP003	Porphyria Cutanea Tarda	68
1223	P	CHR654	Charcot-Marie-Tooth Disease, Axonal, Type 2e	67
1224	c	MCP001	Mucopolysaccharidosis Iii	67
1225	c	NMN013	Niemann-Pick Disease, Type a	66
1226	c	GM1007	Gm1 Gangliosidosis	66
1227	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	65
1228	c	MCP047	Mucopolysaccharidosis, Type Iva	65
1229		CYS013	Cystinuria	65
1230	c	MCP049	Mucopolysaccharidosis, Type Vii	65
1231		ORN008	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	64
1232		WST001	West Syndrome	64
1233	P	ZLL001	Zellweger Syndrome	64
1234		PRP083	Porphyria, Acute Intermittent	64
1235	c	MCP043	Mucopolysaccharidosis, Type Iiia	64
1236		LRN002	Laron Syndrome	63
1237		GT001	Gout	63
1238	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	63
1239		CRN239	Carnitine Deficiency, Systemic Primary	63
1240	P	FNC004	Fanconi Syndrome	63
1241		ARG002	Argininosuccinic Aciduria	62
1242	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	62
1243	P	HYP818	Hypobetalipoproteinemia, Familial, 1	62
1244		CHY002	Chylomicron Retention Disease	62
1245	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	61
1246	c	MCP045	Mucopolysaccharidosis, Type Iiic	61
1247	P	FTT001	Fatty Liver Disease	61
1248		GLY010	Glycine Encephalopathy	61
1249	P	NPH012	Nephrotic Syndrome	61
1250		DPM001	Dopamine Beta-Hydroxylase Deficiency	60
1251		ISC004	Ischemia	60
1252	P	OCL002	Oculocutaneous Albinism	59
1253		GLC012	Galactosialidosis	59
1254		SDD001	Sudden Infant Death Syndrome	59
1255	c	EXS019	Exostoses, Multiple, Type I	58
1256		IRN002	Iron Metabolism Disease	58
1257		LYS003	Lysinuric Protein Intolerance	57
1258		SJG002	Sjogren-Larsson Syndrome	57
1259	c	NPH055	Nephrotic Syndrome, Type 1	57
1260		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	57
1261		IMM246	Immunoglobulin Light Chain Amyloidosis	57
1262	c	CRD183	Ceroid Lipofuscinosis, Neuronal, 2	56
1263	c	GM2005	Gm2-Gangliosidosis, Ab Variant	56
1264	P	STS003	Sitosterolemia	56
1265		KRT002	Keratomalacia	56
1266	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	55
1267	c	MCP046	Mucopolysaccharidosis, Type Iiid	55
1268	c	GM1004	Gm1-Gangliosidosis, Type I	55
1269	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	55
1270	P	PSD015	Pseudohypoparathyroidism	55
1271	P	DST107	Distal Renal Tubular Acidosis	55
1272	P	PRP056	Porphyria, Acute Hepatic	54
1273		PRN011	Pernicious Anemia	54
1274	c	FML035	Familial Hyperlipidemia	54
1275	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	54
1276		FML026	Familial Lipoprotein Lipase Deficiency	54
1277		GLC009	Glucosephosphate Dehydrogenase Deficiency	54
1278	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	54
1279	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	53
1280	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	53
1281	c	NPH049	Nephrotic Syndrome, Type 2	53
1282	c	MSC104	Muscular Dystrophy-Dystroglycanopathy , Type C, 1	52
1283		OPT066	Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy	52
1284	c	GCH016	Gaucher Disease, Type Ii	52
1285	c	GM1005	Gm1-Gangliosidosis, Type Ii	52
1286		PYR021	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	52
1287	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	52
1288		VTM033	Vitamin K Deficiency Bleeding	52
1289	c	CHR646	Charcot-Marie-Tooth Disease, Axonal, Type 2b	51
1290		HYP037	Hyperhomocysteinemia	51
1291	P	PRM051	Primary Pigmented Nodular Adrenocortical Disease	51
1292	P	BRT050	Bartter Syndrome, Type 2, Antenatal	51
1293		NNL006	Non-Alcoholic Steatohepatitis	51
1294	c	HRD173	Hereditary Late-Onset Parkinson Disease	51
1295	c	DWL002	Dowling-Degos Disease 1	51
1296	c	PRK085	Parkinson Disease 1, Autosomal Dominant	51
1297	c	D2H002	D-2-Hydroxyglutaric Aciduria 1	51
1298	P	MTC235	Mitochondrial Disease	51
1299	c	NPH102	Nephrotic Syndrome, Type 14	50
1300		SLR001	Sialuria	50
1301	P	HRD001	Hereditary Multiple Exostoses	50
1302	c	MCL016	Mucolipidosis Iii Gamma	49
1303		MCR004	Macroglobulinemia	49
1304	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	49
1305		MTC111	Mitochondrial Neurogastrointestinal Encephalomyopathy	49
1306	c	CHR650	Charcot-Marie-Tooth Disease, Axonal, Type 2b1	49
1307		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	49
1308	P	CNG003	Congenital Dyserythropoietic Anemia	48
1309		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	48
1310		GLY014	Glycerol Kinase Deficiency	48
1311	c	STS010	Sitosterolemia 1	48
1312	c	MSC103	Muscular Dystrophy-Dystroglycanopathy , Type C, 4	48
1313	c	PRK071	Parkinson Disease 14, Autosomal Recessive	48
1314	c	CHR649	Charcot-Marie-Tooth Disease, Axonal, Type 2d	48
1315	c	CHR352	Charcot-Marie-Tooth Disease, Axonal, Type 2f	48
1316		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	47
1317		ALB002	Albinism	47
1318	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	47
1319	c	GM1006	Gm1-Gangliosidosis, Type Iii	47
1320		SCH030	Schneckenbecken Dysplasia	47
1321	c	FML015	Familial Nephrotic Syndrome	47
1322		MNC019	Monocarboxylate Transporter 1 Deficiency	47
1323	c	ZLL011	Zellweger Spectrum Disorder	47
1324	c	HYP210	Hypomagnesemia 2, Renal	47
1325		HST006	Histidinemia	47
1326	c	BRT052	Bartter Syndrome, Type 1, Antenatal	47
1327	c	GCH013	Gaucher Disease, Type Iiic	46
1328	P	DWL001	Dowling-Degos Disease	46
1329		SPH010	Sphingolipidosis	46
1330		MLT018	Multiple Carboxylase Deficiency	46
1331		CTN011	Cutaneous Porphyria	46
1332		CYS019	Cystathioninuria	46
1333		CRD231	Cardiomyopathy, Infantile Histiocytoid	45
1334	c	PRK065	Parkinson Disease 20, Early-Onset	45
1335	c	GM2006	Gm2 Gangliosidosis	45
1336	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	45
1337	c	CHR548	Charcot-Marie-Tooth Disease, Axonal, Type 2v	45
1338	c	CHR608	Charcot-Marie-Tooth Disease, Axonal, Type 2p	45
1339		CRB148	Cerebral Creatine Deficiency Syndrome 3	45
1340	c	BRD032	Bardet-Biedl Syndrome 14	45
1341		KWS001	Kwashiorkor	45
1342	c	CHR350	Charcot-Marie-Tooth Disease, Axonal, Type 2k	44
1343	c	PRK093	Parkinson Disease 8, Autosomal Dominant	44
1344		HYP236	Hyperbilirubinemia, Rotor Type	44
1345	c	CHR547	Charcot-Marie-Tooth Disease, Axonal, Type 2u	44
1346	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	44
1347	c	CHR617	Charcot-Marie-Tooth Disease, Axonal, Type 2z	44
1348		AMN002	Amino Acid Metabolic Disorder	44
1349	c	NPH072	Nephrotic Syndrome, Type 7	44
1350		DCR008	Dicarboxylic Aminoaciduria	44
1351	c	CHR351	Charcot-Marie-Tooth Disease, Axonal, Type 2n	43
1352	c	ANM080	Anemia, Congenital Dyserythropoietic, Type Iiia	43
1353		MTH056	Methylmalonic Aciduria and Homocystinuria, Cblf Type	43
1354	c	GLY044	Glycogen Storage Disease Ixc	43
1355	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	43
1356		SPS241	Spastic Paraplegia 35, Autosomal Recessive, with or Without Neurodegeneration	43
1357	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	43
1358		MTR082	Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction	43
1359	c	PRK052	Parkinson Disease 17	43
1360	c	CHL118	Cholestasis, Benign Recurrent Intrahepatic, 2	43
1361		PRM237	Primary Hypomagnesemia	43
1362		TMP012	Temple Syndrome	43
1363	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	43
1364		NTR007	Neutral Lipid Storage Disease with Myopathy	42
1365	c	CHR651	Charcot-Marie-Tooth Disease, Axonal, Type 2b2	42
1366	c	BRT056	Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness	42
1367	P	CTR077	Citrullinemia, Type Ii, Neonatal-Onset	42
1368	c	MCP051	Mucopolysaccharidosis, Type Ix	42
1369	c	CHR682	Chronic Bilirubin Encephalopathy	42
1370	c	HYP290	Hypobetalipoproteinemia, Familial, 2	42
1371	c	CHR626	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	42
1372	c	NPH054	Nephrotic Syndrome, Type 3	42
1373	c	CHR668	Charcot-Marie-Tooth Disease, Axonal, Type 2o	42
1374	c	NPH076	Nephrotic Syndrome, Type 10	42
1375		CMB017	Combined Oxidative Phosphorylation Deficiency 6	41
1376	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	41
1377	c	PRK091	Parkinson Disease 4, Autosomal Dominant	41
1378		MTC030	Mitochondrial Complex V Deficiency, Nuclear Type 3	41
1379	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	40
1380	c	CHR671	Charcot-Marie-Tooth Disease, Axonal, Type 2r	40
1381	c	CHR652	Charcot-Marie-Tooth Disease, Axonal, Type 2i	40
1382		3MT027	3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia	40
1383	c	CHR544	Charcot-Marie-Tooth Disease, Axonal, Type 2w	40
1384		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	40
1385		CMB082	Combined Oxidative Phosphorylation Deficiency 33	40
1386	c	CNG413	Congenital Short Bowel Syndrome	40
1387		GLC008	Glucose Metabolism Disease	39
1388	c	CHR657	Charcot-Marie-Tooth Disease, Axonal, Type 2j	39
1389		HMC038	Hemochromatosis, Neonatal	39
1390	c	NPH047	Nephrotic Syndrome, Type 4	39
1391	c	PRK090	Parkinson Disease 3, Autosomal Dominant	39
1392	c	EXS020	Exostoses, Multiple, Type Ii	39
1393	c	CHR542	Charcot-Marie-Tooth Disease, Axonal, Type 2t	39
1394		ISL151	Isolated Elevated Serum Creatine Phosphokinase Levels	39
1395		NRD151	Neurodevelopmental Disorder with or Without Hypotonia, Seizures, and Cerebellar Atrophy	39
1396	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	39
1397	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	39
1398		MTC005	Mitochondrial Metabolism Disease	39
1399	c	PRX055	Peroxisome Biogenesis Disorder 11a	39
1400		MTC141	Mitochondrial Complex V Deficiency, Nuclear Type 5	39
1401	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	38
1402		RTN231	Retinal Dystrophy with Leukodystrophy	38
1403		CYS046	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type	38
1404	c	HYP302	Hypomagnesemia 4, Renal	38
1405	c	ERL056	Early-Onset Parkinson's Disease	38
1406	c	CHR660	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a	38
1407	c	CHR678	Charcot-Marie-Tooth Disease, Axonal, Type 2dd	38
1408	c	NPH117	Nephrotic Syndrome, Type 24	37
1409		HYD030	Hydroxykynureninuria	37
1410		PLY010	Polyclonal Hypergammaglobulinemia	37
1411	c	NPH108	Nephrotic Syndrome, Type 20	37
1412		FML285	Familial Apolipoprotein C-Ii Deficiency	37
1413		CMB019	Combined Oxidative Phosphorylation Deficiency 8	37
1414		CMB015	Combined Oxidative Phosphorylation Deficiency 4	36
1415	c	CHR683	Charcot-Marie-Tooth Disease, Axonal, Type 2ee	36
1416	c	NPH074	Nephrotic Syndrome, Type 9	36
1417		CHR387	Chromosome Xp21 Deletion Syndrome	36
1418		CMB045	Combined Oxidative Phosphorylation Deficiency 19	36
1419	c	GLY006	Glycogen Storage Disease Viii	36
1420		CMB049	Combined Oxidative Phosphorylation Deficiency 17	36
1421	c	PRK070	Parkinson Disease 21	35
1422		CNZ004	Coenzyme Q10 Deficiency, Primary, 3	35
1423	c	BLC016	Bile Acid Synthesis Defect, Congenital, 5	35
1424		SCC011	Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	35
1425		CMB043	Combined Oxidative Phosphorylation Deficiency 9	35
1426		CYS045	Cystinosis, Adult Nonnephropathic	35
1427	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	34
1428		GLY081	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency	34
1429		PYR016	Pyridoxine Deficiency	34
1430	c	FNC059	Fanconi-Like Syndrome	34
1431		CNG064	Congenital Chloride Diarrhea	34
1432		GLT040	Glutamate-Cysteine Ligase Deficiency	33
1433		NRD036	Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures	33
1434		PRT094	Protoporphyria, Erythropoietic, X-Linked	33
1435	c	HML046	Heimler Syndrome 2	33
1436		CMB078	Combined Oxidative Phosphorylation Deficiency 32	33
1437		PPC001	Pepck 1 Deficiency	32
1438	c	FML324	Familial Porphyria Cutanea Tarda	32
1439		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	32
1440	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	32
1441	c	NPH111	Nephrotic Syndrome, Type 21	31
1442	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	31
1443	c	DRY002	Dry Beriberi	31
1444	c	NPH115	Nephrotic Syndrome, Type 23	31
1445		ATX010	Ataxia Neuropathy Spectrum	30
1446		STR018	Steroid Inherited Metabolic Disorder	30
1447		LGH012	Leigh Syndrome with Leukodystrophy	30
1448		PLV001	Pelvic Lipomatosis	30
1449	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	30
1450		ACD003	Acid Sphingomyelinase Deficiency	29
1451	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	29
1452		MCR315	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	29
1453	P	ENC069	Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1	29
1454		MTC150	Mitochondrial Complex V Deficiency, Mitochondrial Type 1	29
1455	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	29
1456	c	ENC049	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2	29
1457		SCC002	Saccharopinuria	28
1458		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	28
1459		ISL083	Isolated Cytochrome C Oxidase Deficiency	28
1460		CMB077	Combined Oxidative Phosphorylation Deficiency 30	28
1461	c	PGM021	Pigmented Nodular Adrenocortical Disease, Primary, 1	28
1462		GLY054	Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency	28
1463		CRT011	Carotenemia	28
1464	c	NPH103	Nephrotic Syndrome, Type 15	27
1465		WRF006	Warfarin Sensitivity, X-Linked	27
1466		VRR003	Verruciform Xanthoma of Skin	27
1467	c	PRK083	Parkinson Disease 22, Autosomal Dominant	27
1468	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	27
1469	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	27
1470		LKN010	Leukoencephalopathy with Dystonia and Motor Neuropathy	27
1471	c	NPH114	Nephrotic Syndrome, Type 22	27
1472		GMM004	Gamma-Amino Butyric Acid Metabolism Disorder	27
1473	c	STS011	Sitosterolemia 2	27
1474	c	PRK098	Parkinson Disease 5, Autosomal Dominant	27
1475	P	ACT241	Acute Bilirubin Encephalopathy	27
1476		CRN042	Carnosinemia	27
1477		DSR031	Disorder of Copper Metabolism	27
1478	c	PGM011	Pigmented Nodular Adrenocortical Disease, Primary, 2	27
1479		MTC025	Mitochondrial Myopathy with Diabetes	27
1480		3HY001	3-Hydroxyisobutyric Aciduria	26
1481	c	MCP055	Mucopolysaccharidosis, Type X	26
1482	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	26
1483	c	NPH096	Nephrotic Syndrome, Type 12	26
1484		CNZ011	Coenzyme Q10 Deficiency, Primary, 8	26
1485	c	NPH073	Nephrotic Syndrome, Type 8	26
1486	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	26
1487	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	26
1488	c	NPH095	Nephrotic Syndrome, Type 11	26
1489	c	PRK099	Parkinson Disease 18, Autosomal Dominant	26
1490		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	26
1491		HYP690	Hyper-Beta-Alaninemia	25
1492		HYP722	Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	25
1493	c	NPH105	Nephrotic Syndrome, Type 17	25
1494		LYS029	Lysosomal Disease	25
1495		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	25
1496	c	PGM022	Pigmented Nodular Adrenocortical Disease, Primary, 4	25
1497		HRD160	Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors	25
1498		CMB100	Combined Oxidative Phosphorylation Deficiency 44	24
1499	c	NPH070	Nephrotic Syndrome, Type 6	24
1500	c	PRK094	Parkinson Disease 11, Autosomal Dominant	24
1501	c	PRK096	Parkinson Disease 13, Autosomal Dominant	24
1502		PLS010	Plasma Protein Metabolism Disease	24
1503	c	DWL003	Dowling-Degos Disease 2	24
1504	c	JVN058	Juvenile-Onset Parkinson's Disease	24
1505	c	NPH106	Nephrotic Syndrome, Type 18	24
1506		GNT042	Genetic Recurrent Myoglobinuria	24
1507	c	MTC074	Metachromatic Leukodystrophy, Adult Form	24
1508		MTR016	Maternal Hyperphenylalaninemia	23
1509	c	BLC018	Bile Acid Synthesis Defect, Congenital, 6	23
1510		LCT017	Lactate Dehydrogenase B Deficiency	23
1511	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
1512		MTC215	Mitochondrial Complex Iv Deficiency, Nuclear Type 4	23
1513		TRH001	Trehalase Deficiency	23
1514	c	NPH093	Nephrotic Syndrome, Type 13	22
1515	c	NPH107	Nephrotic Syndrome, Type 19	22
1516		BLC020	Bile Acid Conjugation Defect 1	22
1517		BTM003	Beta-Aminoisobutyric Aciduria	22
1518	c	3MT026	3-Methylglutaconic Aciduria, Type Viia	22
1519	c	CHR715	Charcot-Marie-Tooth Disease, Axonal, Type 2gg	22
1520	c	CHR716	Charcot-Marie-Tooth Disease, Axonal, Type 2hh	22
1521		MTC220	Mitochondrial Complex Iv Deficiency, Nuclear Type 12	21
1522		BSL043	Basal Ganglia Calcification, Idiopathic, Childhood-Onset	21
1523		CMB098	Combined Oxidative Phosphorylation Deficiency 42	21
1524	c	PRK104	Parkinson Disease 24, Autosomal Dominant	21
1525	c	NPH104	Nephrotic Syndrome, Type 16	21
1526	c	DWL004	Dowling-Degos Disease 4	21
1527	c	CHR714	Charcot-Marie-Tooth Disease, Axonal, Type 2ff	20
1528	c	EXS021	Exostoses, Multiple, Type Iii	20
1529	c	PRK025	Parkinson Disease 10	20
1530	c	PRK058	Parkinson Disease 16	20
1531		MTC227	Mitochondrial Complex Iv Deficiency, Nuclear Type 20	19
1532		FLN005	Folinic Acid-Responsive Seizures	19
1533	c	NPH119	Nephrotic Syndrome, Type 26	19
1534	c	CHR731	Charcot-Marie-Tooth Disease, Axonal, Type 2ii	18
1535		PRM380	Primary Triglyceride Deposit Cardiomyovasculopathy	17
1536		MTC210	Mitochondrial Complex Iv Deficiency, Nuclear Type 9	17
1537	c	ANM081	Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	17
1538	c	PRK022	Parkinson Disease 12	16
1539		NMN008	Niemann-Pick Disease Type C, Severe Perinatal Form	16
1540		MTC179	Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss	16
1541	c	PRM372	Primary Mitochondrial Disorders	16
1542	c	LTN017	Late-Infantile/juvenile Krabbe Disease	16
1543	c	PGM012	Pigmented Nodular Adrenocortical Disease, Primary, 3	16
1544	c	SCN046	Secondary Short Bowel Syndrome	16
1545		ATS112	Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity	16
1546		MLT154	Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type	15
1547	c	ATS421	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect	14
1548		ATS233	Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	14
1549	c	DWL005	Dowling-Degos Disease 3	13
1550	c	VPS003	Vps35-Related Parkinson Disease	12
1551		DSR023	Disorder of Tryptophan Metabolism	12
1552		DSR056	Disorder of Fructose Metabolism	11
1553		DSR072	Disorder of Energy Metabolism	11
1554	c	APB002	Apob-Related Familial Hypobetalipoproteinemia	11
1555	c	ISC017	Isca2-Related Mitochondrial Disorder	9
1556		HMC043	Homocystinuria-Megaloblastic Anemia Cble Type	9
1557		FML360	Familial Apolipoprotein A5 Deficiency	8
1558		DSR025	Disorder of Phenylalanine Metabolism	8
1559		BLC013	Bile Acid Coa Ligase Deficiency and Defective Amidation	8
1560		GTL002	Gitelman-Like Kidney Tubulopathy Due to Mitochondrial Dna Mutation	7
1561		DSR019	Disorder of Proline Metabolism	6
1562	c	MTC198	Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes	6
1563		C12001	C12orf65-Related Combined Oxidative Phosphorylation Defect	6
1564	c	PRM318	Primary Short Bowel Syndrome	5
1565		DSR077	Disorder of the Gamma-Glutamyl Cycle	5
1566		DSR058	Disorder of Sialic Acid Metabolism	5
1567	P	RRH006	Rare Hyperlipidemia	5
1568		DSR084	Disorder of Urea Cycle Metabolism and Ammonia Detoxification	5
1569		DSR060	Disorder of Thiamine Metabolism and Transport	5
1570		DSR079	Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism	5
1571		MTC188	Mitochondrial Membrane Transport Disorder	4
1572	P	DSR042	Disorder of Protein O-Glycosylation	4
1573		BLC019	Bile Acid Synthesis Defect with Cholestasis and Malabsorption	4
1574		DSR024	Disorder of Folate Metabolism and Transport	4
1575	c	DSR009	Disorder of Peroxisomal Alpha-, Beta- and Omega-Oxidation	4
1576	c	DSR050	Disorder of Beta and Omega Amino Acid Metabolism	4
1577		EGF001	Egf-Related Primary Hypomagnesemia with Intellectual Disability	4
1578		CLS056	Classic Organic Aciduria	4
1579		DSR034	Disorder of Pterin Metabolism	4
1580		DSR022	Disorder of Glutamine Metabolism	4
1581		DSR070	Disorder of Fatty Acid Oxidation and Ketone Body Metabolism	3
1582		DSR014	Disorder of Melanin Metabolism	3
1583		RRS005	Rare Syndromic Dyslipidemia	3
1584		DSR082	Disorder of Neurotransmitter Metabolism and Transport	3
1585		DSR018	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Central Nervous System Predominant Involvement	3
1586		DSR067	Disorder of Ornithine or Proline Metabolism	3
1587		DSR037	Disorder of Other Vitamins and Cofactors Metabolism and Transport	3
1588		DSR017	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Peripheral Nerves Predominant Involvement	3
1589		DSR064	Disorder of Biogenic Amine Metabolism and Transport	3
1590		DSR073	Disorder of Phenylalanin or Tyrosine Metabolism	3
1591		DSR076	Disorder of Serine or Glycine Metabolism	3
1592		LPT014	Leptin Deficiency or Dysfunction	78
1593		PHN003	Phenylketonuria	76
1594	c	HMC039	Hemochromatosis, Type 1	75
1595	c	GLY008	Glycogen Storage Disease Ii	72
1596	c	MSC170	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	69
1597		ABT001	Abetalipoproteinemia	69
1598	c	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	69
1599		SND001	Sandhoff Disease	68
1600	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
1601	c	GLY004	Glycogen Storage Disease V	65
1602		MNK001	Menkes Disease	64
1603	c	GLY007	Glycogen Storage Disease Iv	64
1604		HYP020	Hyperprolactinemia	64
1605		LBR038	Leber Hereditary Optic Neuropathy, Modifier of	64
1606		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	64
1607		TNG002	Tangier Disease	64
1608	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	64
1609	c	HYP794	Hyperoxaluria, Primary, Type I	64
1610	P	HRM001	Hermansky-Pudlak Syndrome	63
1611	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	63
1612	P	HYP838	Hyperlipidemia, Familial Combined, 3	62
1613	P	EPL198	Epilepsy, Myoclonic Juvenile	62
1614	c	DVL042	Developmental and Epileptic Encephalopathy 14	62
1615		ATX019	Ataxia with Vitamin E Deficiency	61
1616	c	DVL030	Developmental and Epileptic Encephalopathy 36	61
1617		GLT035	Glutaric Acidemia I	61
1618		EPL131	Epilepsy, Pyridoxine-Dependent	61
1619		RNL024	Renal Glucosuria	60
1620		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	60
1621	c	CHL134	Cholestasis, Benign Recurrent Intrahepatic, 1	60
1622		DNN001	Danon Disease	60
1623	c	GLY005	Glycogen Storage Disease Vi	59
1624	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	59
1625		DYS161	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency	59
1626		BRN045	Brunner Syndrome	59
1627	c	CRD184	Ceroid Lipofuscinosis, Neuronal, 5	59
1628	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	59
1629	c	MSC169	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	58
1630	c	PRG047	Progressive Familial Intrahepatic Cholestasis	58
1631		PYR041	Pyruvate Kinase Deficiency of Red Cells	58
1632	c	GCH017	Gaucher Disease, Type Iii	58
1633		NNL005	Non-Alcoholic Fatty Liver Disease	58
1634		BLR008	Bilirubin Metabolic Disorder	58
1635	c	DVL033	Developmental and Epileptic Encephalopathy 1	57
1636	c	HRM005	Hermansky-Pudlak Syndrome 1	57
1637		MND021	Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome	57
1638	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	56
1639	P	LMB006	Limb-Girdle Muscular Dystrophy	56
1640		ACR056	Acrodermatitis Enteropathica, Zinc-Deficiency Type	56
1641		PYC001	Pycnodysostosis	56
1642	c	NRD008	Neurodegeneration with Brain Iron Accumulation 3	56
1643	c	HRM017	Hermansky-Pudlak Syndrome 2	56
1644	c	NRD032	Neurodegeneration with Brain Iron Accumulation 5	56
1645		HYP732	Hyperalphalipoproteinemia 1	55
1646	P	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	54
1647		NCT003	N-Acetylglutamate Synthase Deficiency	54
1648		IRN008	Iron Overload in Africa	54
1649	c	DVL038	Developmental and Epileptic Encephalopathy 7	54
1650		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	54
1651		MSC077	Muscle Eye Brain Disease	54
1652	P	LCT002	Lactose Intolerance	54
1653		MTC020	Mitochondrial Complex Ii Deficiency	53
1654	c	HYP739	Hyperlipoproteinemia, Type Iv	53
1655	c	DVL029	Developmental and Epileptic Encephalopathy 2	53
1656	c	NMN014	Niemann-Pick Disease, Type C2	53
1657	P	NRD007	Neurodegeneration with Brain Iron Accumulation	52
1658	c	DVL027	Developmental and Epileptic Encephalopathy 9	52
1659	P	INT068	Intestinal Disease	52
1660		HMZ003	Homozygous Familial Hypercholesterolemia	52
1661	c	HYP603	Hyperoxaluria, Primary, Type Iii	52
1662	P	PLM085	Pulmonary Hemosiderosis	52
1663		HRT031	Hartnup Disorder	52
1664		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	52
1665	P	DVL113	Developmental and Epileptic Encephalopathy	51
1666	P	INT001	Intrahepatic Cholestasis	51
1667	P	NLX004	Neu-Laxova Syndrome 1	51
1668	P	RNL007	Renal Tubular Acidosis	51
1669	c	HMC010	Hemochromatosis, Type 3	51
1670	c	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	50
1671	c	HYP602	Hyperoxaluria, Primary, Type Ii	50
1672	c	DVL041	Developmental and Epileptic Encephalopathy 13	50
1673		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	50
1674	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	50
1675	c	TRN032	Transient Neonatal Diabetes Mellitus	50
1676		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	50
1677		SGW002	Segawa Syndrome, Autosomal Recessive	50
1678	c	HRM009	Hermansky-Pudlak Syndrome 6	50
1679	P	MCL001	Mucolipidosis	50
1680	c	MSC176	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	50
1681		3HY005	3-Hydroxyacyl-Coa Dehydrogenase Deficiency	49
1682	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	49
1683	c	HRM006	Hermansky-Pudlak Syndrome 3	49
1684	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	49
1685	c	MSC175	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	49
1686		CMB020	Combined Saposin Deficiency	49
1687	c	CHR095	Chronic Progressive External Ophthalmoplegia	49
1688	c	NRD016	Neurodegeneration with Brain Iron Accumulation 6	49
1689		HLC001	Holocarboxylase Synthetase Deficiency	49
1690	c	SPN308	Spinocerebellar Ataxia 28	49
1691		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	49
1692	c	SCH069	Schindler Disease, Type I	48
1693	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	48
1694	P	ACT010	Acth-Secreting Pituitary Adenoma	48
1695	c	MSC173	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	48
1696		VTM002	Vitamin B12 Deficiency	48
1697		TRN022	Transcobalamin Ii Deficiency	48
1698	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	48
1699		SNG007	Sengers Syndrome	48
1700		MTH089	Methylmalonic Aciduria and Homocystinuria, Cblx Type	48
1701	c	HRM008	Hermansky-Pudlak Syndrome 5	48
1702	c	GLY115	Glycogen Storage Disease Ixd	48
1703		HYP870	Hyperuricemia, Hprt-Related	47
1704	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	47
1705	P	SPN448	Spondyloepimetaphyseal Dysplasia with Joint Laxity	47
1706	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	47
1707	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	47
1708	c	DVL035	Developmental and Epileptic Encephalopathy 4	47
1709	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	47
1710	c	PTT057	Pituitary Adenoma 4, Acth-Secreting	47
1711		GLY078	Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency	47
1712	c	MSC178	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	47
1713	c	HRM012	Hermansky-Pudlak Syndrome 9	46
1714	P	PSD003	Pseudohypoaldosteronism	46
1715	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	46
1716	c	ATS298	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	46
1717	c	NRD009	Neurodegeneration with Brain Iron Accumulation 2b	46
1718		PRX001	Peroxisomal Disease	46
1719	c	MSC172	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	46
1720	c	ATS279	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	46
1721	c	GLY016	Glycogen Storage Disease Ib	46
1722	c	DVL118	Developmental and Epileptic Encephalopathy 94	46
1723	c	GLY009	Glycogen Storage Disease Xv	46
1724	P	PLL002	Pellagra	46
1725	c	DVL048	Developmental and Epileptic Encephalopathy 21	45
1726	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	45
1727	c	NRD014	Neurodegeneration with Brain Iron Accumulation 4	45
1728	c	DVL039	Developmental and Epileptic Encephalopathy 11	45
1729		WRN003	Wernicke Encephalopathy	45
1730		DVL146	Developmental and Epileptic Encephalopathy 39 with Leukodystrophy	45
1731		LCT013	Lactase Deficiency, Congenital	45
1732	c	CRD181	Ceroid Lipofuscinosis, Neuronal, 8	45
1733		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	45
1734	c	ATS207	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	45
1735		ALB025	Albinism, Ocular, with Late-Onset Sensorineural Deafness	44
1736	c	FML363	Familial Adult Myoclonic Epilepsy	44
1737	c	MSC174	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	44
1738	c	SPN284	Spinocerebellar Ataxia 38	44
1739	c	DVL056	Developmental and Epileptic Encephalopathy 30	44
1740		GLY015	Glycine N-Methyltransferase Deficiency	44
1741	c	DVL068	Developmental and Epileptic Encephalopathy 43	44
1742		GBM001	Gaba Aminotransferase Deficiency	44
1743	c	HYP248	Hyperprolinemia, Type I	44
1744		WLD008	Wild-Type Amyloidosis	43
1745	c	DVL099	Developmental and Epileptic Encephalopathy 75	43
1746	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	43
1747	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	43
1748	c	MSC177	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	43
1749	c	ATS246	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	43
1750	P	SLL003	Salla Disease	43
1751	c	MSC171	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	43
1752	c	ATS277	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	43
1753	c	DVL067	Developmental and Epileptic Encephalopathy 42	43
1754	c	DVL044	Developmental and Epileptic Encephalopathy 16	43
1755	c	MYC083	Myoclonic Epilepsy, Familial Infantile	43
1756	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	42
1757	c	DVL077	Developmental and Epileptic Encephalopathy 53	42
1758	c	ATS331	Autosomal Recessive Limb-Girdle Muscular Dystrophy	42
1759	c	DVL076	Developmental and Epileptic Encephalopathy 52	42
1760	c	DVL037	Developmental and Epileptic Encephalopathy 5	42
1761	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	42
1762	c	ATS217	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	42
1763	c	DVL049	Developmental and Epileptic Encephalopathy 23	42
1764	c	DVL062	Developmental and Epileptic Encephalopathy 35	42
1765	c	HRM007	Hermansky-Pudlak Syndrome 4	41
1766	c	MSC179	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	41
1767		CYT014	Cytochrome P450 Oxidoreductase Deficiency	41
1768	c	MSC180	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	41
1769	c	DVL072	Developmental and Epileptic Encephalopathy 47	41
1770	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	41
1771		ACR122	Aica-Ribosuria Due to Atic Deficiency	41
1772	c	MLT179	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	40
1773	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	40
1774	c	ATS297	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	40
1775		LKN026	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	40
1776	c	DVL100	Developmental and Epileptic Encephalopathy 76	40
1777	c	HRM010	Hermansky-Pudlak Syndrome 7	40
1778	c	DVL045	Developmental and Epileptic Encephalopathy 17	40
1779	c	DVL064	Developmental and Epileptic Encephalopathy 38	40
1780	c	DVL034	Developmental and Epileptic Encephalopathy 3	39
1781	c	DVL061	Developmental and Epileptic Encephalopathy 34	39
1782	c	DVL098	Developmental and Epileptic Encephalopathy 74	39
1783	c	DVL052	Developmental and Epileptic Encephalopathy 26	39
1784	c	DVL028	Developmental and Epileptic Encephalopathy 8	39
1785	P	FML362	Familial Isolated Hypoparathyroidism	39
1786	c	DVL040	Developmental and Epileptic Encephalopathy 12	39
1787	c	DVL103	Developmental and Epileptic Encephalopathy 80	39
1788	c	MSC183	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	39
1789	c	MSC181	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	38
1790	c	DVL073	Developmental and Epileptic Encephalopathy 48	38
1791		CMB014	Combined Oxidative Phosphorylation Deficiency 3	38
1792	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	38
1793		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	38
1794		ASP024	Asparagine Synthetase Deficiency	38
1795	c	DVL109	Developmental and Epileptic Encephalopathy 87	38
1796	c	DVL060	Developmental and Epileptic Encephalopathy 50	38
1797	c	DVL053	Developmental and Epileptic Encephalopathy 27	38
1798		ISB001	Isobutyryl-Coa Dehydrogenase Deficiency	38
1799	c	DVL043	Developmental and Epileptic Encephalopathy 15	38
1800	c	HRM011	Hermansky-Pudlak Syndrome 8	38
1801	c	DVL055	Developmental and Epileptic Encephalopathy 29	37
1802		APL032	Apolipoprotein a-Iv Associated Amyloidosis	37
1803		PNT006	Pentosuria	37
1804		GLY099	Glycogen Storage Disease Ixa1	37
1805		CNG016	Congenital Intrinsic Factor Deficiency	37
1806	c	MSC184	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	37
1807	c	DVL050	Developmental and Epileptic Encephalopathy 24	37
1808	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	36
1809	c	DVL078	Developmental and Epileptic Encephalopathy 54	36
1810		BCH004	Bachmann-Bupp Syndrome	36
1811	c	DVL079	Developmental and Epileptic Encephalopathy 55	36
1812	c	ATS299	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	36
1813	c	DVL069	Developmental and Epileptic Encephalopathy 44	36
1814		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	36
1815	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	36
1816	c	DVL097	Developmental and Epileptic Encephalopathy 73	36
1817		3HY010	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	36
1818	c	PSD080	Pseudohypoaldosteronism Type 1	36
1819	c	ATS211	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	36
1820	c	PRX060	Peroxisome Biogenesis Disorder 5a	36
1821	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	36
1822	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	36
1823		GLY058	Glycogen Storage Disease 0, Liver	35
1824	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	35
1825	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	35
1826		LRS010	Larsen-Like Syndrome B3gat3 Type	35
1827		HMC042	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	35
1828	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	34
1829		SZR028	Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome	34
1830	c	DVL054	Developmental and Epileptic Encephalopathy 28	34
1831		FTL068	Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency	34
1832	c	MSC189	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	34
1833	c	EPL134	Epilepsy, Progressive Myoclonic 7	34
1834	c	DVL059	Developmental and Epileptic Encephalopathy 33	34
1835	c	DVL090	Developmental and Epileptic Encephalopathy 66	34
1836		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	34
1837	c	DVL057	Developmental and Epileptic Encephalopathy 31	34
1838	c	PRX057	Peroxisome Biogenesis Disorder 4a	34
1839	c	LMB073	Limb-Girdle Muscular Dystrophy Type 1a	34
1840	c	MSC182	Muscular Dystrophy-Dystroglycanopathy , Type C, 15	33
1841	c	DVL089	Developmental and Epileptic Encephalopathy 65	33
1842		PYR025	Pyruvate Dehydrogenase E2 Deficiency	33
1843	c	HYP864	Hypoparathyroidism, Familial Isolated, 1	33
1844		OXG001	Oxoglutarate Dehydrogenase Deficiency	33
1845		CMB071	Combined Oxidative Phosphorylation Deficiency 27	33
1846	c	DVL084	Developmental and Epileptic Encephalopathy 60	33
1847	c	PRX046	Peroxisome Biogenesis Disorder 7a	32
1848		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	32
1849	c	HYP839	Hyperlipidemia, Familial Combined, 1	32
1850	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	32
1851		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	32
1852	P	ACR110	Acrodysostosis 1 with or Without Hormone Resistance	32
1853	c	PSD090	Pseudohypoaldosteronism, Type Iia	32
1854	c	EPL009	Epilepsy Progressive Myoclonic Type 3	32
1855	c	DVL046	Developmental and Epileptic Encephalopathy 18	32
1856	c	ATS280	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	31
1857	c	DVL129	Developmental and Epileptic Encephalopathy 25	31
1858	c	FML355	Familial Intrahepatic Cholestasis	31
1859	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	31
1860	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	31
1861	c	DVL119	Developmental and Epileptic Encephalopathy 6b	31
1862		PNC048	Pancreatic Lipase Deficiency	31
1863		CRT066	Cortisone Reductase Deficiency 2	31
1864	c	ATS330	Autosomal Dominant Limb-Girdle Muscular Dystrophy	31
1865	c	EPL188	Epilepsy, Progressive Myoclonic, 10	31
1866		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	31
1867		PYR018	Pyruvate Dehydrogenase Phosphatase Deficiency	31
1868	c	DVL114	Developmental and Epileptic Encephalopathy 91	31
1869		MTC068	Mitochondrial Complex V Deficiency, Nuclear Type 2	31
1870	c	GLY023	Glycogen Storage Disease Type 0	30
1871	c	MSC058	Muscular Dystrophy, Limb-Girdle, Type 1h	30
1872		LGH013	Leigh Syndrome with Cardiomyopathy	30
1873	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	30
1874		MYP149	Myopathy, Mitochondrial, and Ataxia	30
1875	c	THM014	Thiamine Metabolism Dysfunction Syndrome 4	30
1876	c	DVL063	Developmental and Epileptic Encephalopathy 37	30
1877	c	DVL107	Developmental and Epileptic Encephalopathy 84	30
1878	c	ACR119	Acrodysostosis 2 with or Without Hormone Resistance	29
1879		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	29
1880	c	GLY059	Glycogen Storage Disease Xiii	29
1881	c	MSC191	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	29
1882	c	EPL154	Epilepsy, Progressive Myoclonic, 9	28
1883	c	DVL080	Developmental and Epileptic Encephalopathy 56	28
1884	c	DVL058	Developmental and Epileptic Encephalopathy 32	28
1885	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
1886	c	DVL071	Developmental and Epileptic Encephalopathy 46	28
1887	c	MYC086	Myoclonic Epilepsy, Juvenile 4	28
1888	c	DVL112	Developmental and Epileptic Encephalopathy 89	28
1889	c	MYC068	Myoclonic Epilepsy of Infancy	27
1890	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	27
1891	c	PSD068	Pseudohypoaldosteronism, Type Iic	27
1892	c	DVL066	Developmental and Epileptic Encephalopathy 41	27
1893	c	MSC187	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	27
1894	c	DVL094	Developmental and Epileptic Encephalopathy 70	27
1895	c	DVL093	Developmental and Epileptic Encephalopathy 69	27
1896	c	DVL120	Developmental and Epileptic Encephalopathy 95	27
1897	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	27
1898	c	DVL086	Developmental and Epileptic Encephalopathy 62	27
1899	c	DVL088	Developmental and Epileptic Encephalopathy 64	27
1900	c	DVL074	Developmental and Epileptic Encephalopathy 49	27
1901	c	LCT011	Lactose Intolerance, Adult Type	27
1902	c	DVL116	Developmental and Epileptic Encephalopathy 93	27
1903	c	ATS333	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	27
1904	c	DVL047	Developmental and Epileptic Encephalopathy 19	27
1905	c	DVL101	Developmental and Epileptic Encephalopathy 78	27
1906	c	DVL092	Developmental and Epileptic Encephalopathy 68	26
1907	c	PSD094	Pseudohypoaldosteronism, Type Iib	26
1908	c	HRM023	Hermansky-Pudlak Syndrome 11	26
1909	c	DVL091	Developmental and Epileptic Encephalopathy 67	26
1910	c	DVL083	Developmental and Epileptic Encephalopathy 59	26
1911	c	DVL075	Developmental and Epileptic Encephalopathy 51	26
1912	c	DVL104	Developmental and Epileptic Encephalopathy 81	26
1913	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	26
1914		MN1002	Man1b1-Cdg	26
1915	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	26
1916	c	DVL115	Developmental and Epileptic Encephalopathy 92	26
1917		CRT065	Cortisone Reductase Deficiency 1	26
1918		GLY094	Glycine Encephalopathy with Normal Serum Glycine	26
1919	c	DVL127	Developmental and Epileptic Encephalopathy 98	26
1920	c	DVL128	Developmental and Epileptic Encephalopathy 99	26
1921	c	HRM020	Hermansky-Pudlak Syndrome 10	26
1922	c	DVL070	Developmental and Epileptic Encephalopathy 45	26
1923		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	26
1924	c	OCL081	Oculocutaneous Albinism, Type Viii	26
1925	c	DVL081	Developmental and Epileptic Encephalopathy 57	25
1926		SDH011	Sedoheptulokinase Deficiency	25
1927		CMB084	Combined Oxidative Phosphorylation Deficiency 34	25
1928	c	DVL106	Developmental and Epileptic Encephalopathy 83	25
1929	c	DVL102	Developmental and Epileptic Encephalopathy 79	25
1930	c	LMB074	Limb-Girdle Muscular Dystrophy Type 1b	25
1931	c	DVL032	Developmental and Epileptic Encephalopathy 90	25
1932	c	DVL131	Developmental and Epileptic Encephalopathy 100	25
1933	c	DVL105	Developmental and Epileptic Encephalopathy 82	25
1934	c	DVL085	Developmental and Epileptic Encephalopathy 61	25
1935	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	24
1936		IMM247	Immunoglobulin Heavy Chain Amyloidosis	24
1937	c	DVL087	Developmental and Epileptic Encephalopathy 63	24
1938		HST007	Histidine Metabolism Disease	24
1939	c	ATS332	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w	24
1940	c	DVL110	Developmental and Epileptic Encephalopathy 88	24
1941	c	DVL095	Developmental and Epileptic Encephalopathy 71	24
1942	c	DVL065	Developmental and Epileptic Encephalopathy 40	24
1943	c	SPN434	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3	24
1944	c	DVL096	Developmental and Epileptic Encephalopathy 72	24
1945		ZNC006	Zinc, Elevated Plasma	24
1946		BLD065	Blue Diaper Syndrome	24
1947	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	23
1948	c	MSC186	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21	23
1949	c	EPL254	Epilepsy, Progressive Myoclonic, 11	23
1950	c	DVL082	Developmental and Epileptic Encephalopathy 58	23
1951	c	HYP867	Hypoparathyroidism, Familial Isolated, 2	23
1952	c	CHL191	Cholestasis, Progressive Familial Intrahepatic, 10	23
1953	c	MYC085	Myoclonic Epilepsy, Juvenile 3	23
1954	c	CHR464	Chronic Intestinal Failure	23
1955	c	DVL132	Developmental and Epileptic Encephalopathy 101	22
1956	c	MSC202	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	22
1957	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	22
1958	c	TRN053	Transient Pseudohypoaldosteronism	22
1959	c	CHL188	Cholestasis, Progressive Familial Intrahepatic, 8	22
1960	c	DVL124	Developmental and Epileptic Encephalopathy 97	22
1961	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	22
1962	c	EPL210	Epilepsy, Progressive Myoclonic, 6	22
1963	c	DVL121	Developmental and Epileptic Encephalopathy 96	22
1964		BRN112	Brain Dopamine-Serotonin Vesicular Transport Disease	22
1965	c	DVL134	Developmental and Epileptic Encephalopathy 102	22
1966	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	21
1967	c	EPL217	Epilepsy, Juvenile Myoclonic 10	21
1968	c	CHL190	Cholestasis, Progressive Familial Intrahepatic, 9	21
1969	c	DVL135	Developmental and Epileptic Encephalopathy 103	21
1970	c	DVL141	Developmental and Epileptic Encephalopathy 106	21
1971	c	DVL108	Developmental and Epileptic Encephalopathy 86	21
1972		DSR055	Disorder of Galactose Metabolism	20
1973	c	DVL136	Developmental and Epileptic Encephalopathy 104	20
1974	c	EPL257	Epilepsy, Progressive Myoclonic, 12	20
1975	c	MSC199	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	20
1976		CPP001	Copper Deficiency, Familial Benign	20
1977	c	ATS354	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z	20
1978	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	20
1979	c	DVL142	Developmental and Epileptic Encephalopathy 107	19
1980		EXT064	Extraoral Halitosis Due to Methanethiol Oxidase Deficiency	19
1981	c	CHL186	Cholestasis, Progressive Familial Intrahepatic, 6	19
1982		HRM027	Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency	19
1983	c	CHL193	Cholestasis, Progressive Familial Intrahepatic, 12	18
1984		DSR036	Disorder of Mineral Absorption and Transport	18
1985		HRM026	Hermansky-Pudlak Syndrome Due to Bloc-2 Deficiency	18
1986	P	NMN011	Niemann-Pick Disease Type C, Adult Neurologic Onset	18
1987		HRM025	Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency	18
1988	c	RNL117	Renal Tubular Acidosis Iii	17
1989		MTC221	Mitochondrial Complex Iv Deficiency, Nuclear Type 14	17
1990	c	PLL014	Pellagra-Like Syndrome	17
1991	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	17
1992		NRM021	Neurometabolic Disorder Due to Serine Deficiency	16
1993	P	PRM375	Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis	16
1994	c	CHL192	Cholestasis, Progressive Familial Intrahepatic, 11	16
1995		NNP016	Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy	16
1996	c	FML327	Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis	15
1997		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	15
1998	c	EPL186	Epilepsy, Juvenile Myoclonic 9	15
1999	c	PMG002	Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	14
2000	c	HYP842	Hyperlipidemia, Familial Combined, 2	14
2001	c	DVL148	Developmental and Epileptic Encephalopathy 108	13
2002	c	PRM152	Primary Renal Tubular Acidosis	12
2003	c	FML196	Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland	12
2004	c	PSD124	Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	12
2005	c	GRN068	Grin2d-Related Developmental and Epileptic Encephalopathy	11
2006	c	DVL151	Developmental and Epileptic Encephalopathy 110	11
2007	c	PSD123	Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	11
2008	c	SCN047	Secondary Pulmonary Hemosiderosis	10
2009	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	10
2010	c	DVL150	Developmental and Epileptic Encephalopathy 109	10
2011	c	RRN023	Rare Intestinal Disease	10
2012		MNM005	Minimal Pigment Oculocutaneous Albinism Type 1	10
2013		PYR043	Pyruvate Metabolism Disorder	9
2014	c	ISC021	Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome	9
2015		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	8
2016	P	TTL001	Total Internal Ophthalmoplegia	8
2017		DSR020	Disorder of Ornithine Metabolism	7
2018	c	ATS273	Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy	7
2019		ATS077	Autosomal Dominant Optic Atrophy and Peripheral Neuropathy	6
2020	P	ATS271	Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy	5
2021		DSR068	Disorder of Peptide Metabolism	5
2022		DSR035	Disorder of Bilirubin Metabolism and Excretion	5
2023	c	INT359	Intestinal Disease Due to Fat Malabsorption	4
2024		PRM377	Primary Hypomagnesemia-Generalized Seizures-Intellectual Disability-Obesity Syndrome	4
2025		DSR016	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement	4
2026		DSR080	Disorder of Cobalamin Metabolism and Transport	4
2027	c	INT360	Intestinal Disease Due to Vitamin Absorption Anomaly	3
2028	c	CNG604	Congenital Intestinal Disease Due to an Enzymatic Defect	3
2029		CYS001	Cystic Fibrosis	78
2030	P	HYP724	Hyperlipoproteinemia, Type Iii	72
2031		ALP103	Alpha-1-Antitrypsin Deficiency	70
2032		PPL049	Papillon-Lefevre Syndrome	70
2033		LYS012	Lysosomal Acid Lipase Deficiency	69
2034	P	HYP086	Hypothyroidism	68
2035	P	GLC113	Galactosemia I	66
2036	c	MCL013	Mucolipidosis Iv	66
2037	c	MSC036	Muscular Dystrophy-Dystroglycanopathy , Type C, 5	66
2038	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	65
2039		LPD008	Lipid Metabolism Disorder	65
2040		RFS006	Refsum Disease, Classic	64
2041	P	ABD014	Abdominal Obesity-Metabolic Syndrome 1	64
2042	c	CNG006	Congenital Hypothyroidism	64
2043		MGL001	Megaloblastic Anemia	64
2044		KRN002	Kearns-Sayre Syndrome	63
2045		BTN003	Biotinidase Deficiency	63
2046		FCS002	Fucosidosis	63
2047		WLK001	Walker-Warburg Syndrome	61
2048		ALK013	Alkaptonuria	61
2049	P	HYP097	Hyperekplexia	61
2050		GYR004	Gyrate Atrophy of Choroid and Retina	60
2051	P	CTR002	Cataract	60
2052		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	60
2053		DBT084	Diabetes Mellitus, Ketosis-Prone	60
2054		DBN001	Dubin-Johnson Syndrome	60
2055	P	GLY013	Glycogen Storage Disease	59
2056		OCC006	Occipital Horn Syndrome	59
2057		FRB001	Farber Lipogranulomatosis	59
2058	c	HYP843	Hypoalphalipoproteinemia, Primary, 2	59
2059	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	59
2060		RNL051	Renal Cysts and Diabetes Syndrome	58
2061	P	MLG056	Malignant Hyperthermia	58
2062	c	CRB193	Cerebral Amyloid Angiopathy, App-Related	57
2063		ISV001	Isovaleric Acidemia	57
2064	c	PSD066	Pseudohypoparathyroidism, Type Ib	56
2065	c	GLL024	Gallbladder Disease 1	56
2066		PRP082	Porphyria, Congenital Erythropoietic	56
2067		HYP003	Hypermethioninemia	56
2068		HYP081	Hypolipoproteinemia	56
2069		PRD004	Prediabetes Syndrome	56
2070		PLC005	Placental Insufficiency	55
2071	c	GLC111	Galactosemia Ii	55
2072	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	55
2073		SRM004	Serum Amyloid a Amyloidosis	54
2074	P	GLL020	Gallbladder Disease	54
2075	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	54
2076	c	OPT053	Optic Atrophy 1	54
2077	c	CHL137	Cholestasis, Progressive Familial Intrahepatic, 3	54
2078		MLT135	Multiple Sulfatase Deficiency	53
2079		GRC001	Gracile Syndrome	53
2080	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	53
2081	c	PNT057	Pontocerebellar Hypoplasia, Type 1e	52
2082	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	52
2083	c	CRD182	Ceroid Lipofuscinosis, Neuronal, 10	52
2084		TMT002	Temtamy Preaxial Brachydactyly Syndrome	51
2085		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	51
2086		GLT007	Glutathione Synthetase Deficiency	51
2087		HMC041	Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity	51
2088		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	50
2089		ATR002	Atransferrinemia	50
2090		SLF014	Sulfite Oxidase Deficiency, Isolated	50
2091	c	OPT068	Optic Atrophy 3, Autosomal Dominant	50
2092	P	HYP605	Hyperphenylalaninemia, Bh4-Deficient, B	50
2093		GCH018	Gaucher Disease, Perinatal Lethal	50
2094	c	MSC108	Muscular Dystrophy-Dystroglycanopathy , Type C, 2	50
2095	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	50
2096	c	HYP699	Hyperekplexia 1	50
2097	c	GLY097	Glycogen Storage Disease Ixb	49
2098	c	PNT037	Pontocerebellar Hypoplasia, Type 3	49
2099		GRD009	Gordon Holmes Syndrome	49
2100	c	ALB019	Albinism, Oculocutaneous, Type Iv	49
2101		HWK001	Hawkinsinuria	48
2102		NNT017	Neonatal Adrenoleukodystrophy	48
2103		OLV001	Olivopontocerebellar Atrophy	48
2104		FSH001	Fish-Eye Disease	48
2105	c	PNT036	Pontocerebellar Hypoplasia, Type 6	48
2106	P	HYP534	Hypomagnesemia 3, Renal	48
2107		GLC022	Glucose/galactose Malabsorption	47
2108	P	HYP769	Hyperlysinemia, Type I	47
2109	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	47
2110	c	CTR103	Cataract 4, Multiple Types	47
2111	c	CTR098	Cataract 1, Multiple Types	47
2112	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	47
2113	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	47
2114	c	MLG147	Malignant Hyperthermia 1	47
2115	P	PNT019	Pontocerebellar Hypoplasia	46
2116		ORG002	Organic Acidemia	46
2117		NGL007	Ngly1-Deficiency	46
2118	c	PNT043	Pontocerebellar Hypoplasia, Type 4	46
2119	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	46
2120		CRB025	Carbohydrate Metabolic Disorder	46
2121	P	SPS008	Spastic Ataxia	45
2122	P	BRB001	Beriberi	45
2123	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	45
2124		MYP071	Myopathy Due to Myoadenylate Deaminase Deficiency	45
2125	c	HYP716	Hypermanganesemia with Dystonia 1	45
2126		DLY010	Dialysis-Related Amyloidosis	44
2127	c	CTR182	Cataract 23, Multiple Types	44
2128	P	KRN004	Kernicterus	44
2129	c	CTR096	Cataract 6, Multiple Types	44
2130		DHY011	Dihydropyrimidinase Deficiency	44
2131	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	44
2132	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	44
2133	c	PNT032	Pontocerebellar Hypoplasia, Type 9	44
2134	c	FML036	Familial Periodic Paralysis	43
2135	c	CHL143	Cholestasis, Progressive Familial Intrahepatic, 4	43
2136	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	43
2137	c	CTR130	Cataract 9, Multiple Types	43
2138	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	43
2139	P	PRD021	Periodic Paralysis	43
2140	c	CRD239	Ceroid Lipofuscinosis, Neuronal, 13	43
2141		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	42
2142		HYP187	Hypertryptophanemia	42
2143	c	CRD257	Ceroid Lipofuscinosis, Neuronal, 4	42
2144	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	42
2145	c	ALB024	Albinism, Ocular, Type I	41
2146	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	41
2147		HMC030	Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency	41
2148		ALP112	Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria	41
2149		PLY158	Polyglucosan Body Neuropathy, Adult Form	41
2150	c	BLC007	Bile Acid Synthesis Defect, Congenital, 1	41
2151	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	41
2152	c	HYP713	Hypermanganesemia with Dystonia 2	41
2153		GLT014	Glutathionuria	41
2154	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	41
2155	c	OPT064	Optic Atrophy 11	41
2156		CNZ008	Coenzyme Q10 Deficiency, Primary, 6	41
2157	c	BLC011	Bile Acid Synthesis Defect, Congenital, 3	41
2158	c	PNT039	Pontocerebellar Hypoplasia, Type 7	41
2159		LTH002	Lathosterolosis	40
2160	c	CTR118	Cataract 14, Multiple Types	40
2161	P	ANM035	Anemia, Hypochromic Microcytic, with Iron Overload 1	40
2162	c	HYP519	Hyperekplexia 3	39
2163	c	CTR125	Cataract 7	39
2164	c	CTR132	Cataract 3, Multiple Types	39
2165	c	CTR115	Cataract 16, Multiple Types	39
2166	c	LPD040	Lipodystrophy, Familial Partial, Type 1	39
2167	c	HYP510	Hyperekplexia 2	39
2168	c	CTR170	Cataract 30, Multiple Types	39
2169	c	CTR174	Cataract 40	38
2170	c	CTR113	Cataract 11, Multiple Types	38
2171	c	OPT065	Optic Atrophy 9	38
2172		CMB052	Combined Oxidative Phosphorylation Deficiency 20	38
2173	c	GLY057	Glycogen Storage Disease X	38
2174	c	PNT050	Pontocerebellar Hypoplasia, Type 11	38
2175	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	38
2176	c	CTR145	Cataract 44	37
2177	c	PNT033	Pontocerebellar Hypoplasia, Type 10	37
2178	c	CNG002	Congenital Bile Acid Synthesis Defect	37
2179	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	37
2180	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	36
2181	c	CTR129	Cataract 31, Multiple Types	36
2182		HMM002	Haim-Munk Syndrome	36
2183	c	CTR181	Cataract 18	35
2184		RBS005	Ribose 5-Phosphate Isomerase Deficiency	35
2185		CMB048	Combined Oxidative Phosphorylation Deficiency 15	35
2186	P	DRR005	Diarrhea 4, Malabsorptive, Congenital	35
2187		HPT025	Hepatic Lipase Deficiency	35
2188		CMB076	Combined Oxidative Phosphorylation Deficiency 31	35
2189	c	PNT053	Pontocerebellar Hypoplasia, Type 13	35
2190		ART173	Arthrogryposis, Impaired Intellectual Development, and Seizures	35
2191	c	CTR122	Cataract 5, Multiple Types	34
2192	c	PNT052	Pontocerebellar Hypoplasia, Type 12	34
2193	c	CTR183	Cataract 38	34
2194		AMN007	Aminoacylase 1 Deficiency	34
2195		BTN005	Biotin-Thiamine-Responsive Basal Ganglia Disease	34
2196	c	PNT030	Pontocerebellar Hypoplasia, Type 8	34
2197	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	34
2198	c	CTR095	Cataract 8, Multiple Types	34
2199		TTR005	Tetrahydrobiopterin Deficiency	34
2200	c	OPT024	Optic Atrophy 5	33
2201		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	33
2202	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	33
2203	c	PSD093	Pseudohypoaldosteronism, Type Iid	33
2204		FLC001	Folic Acid Deficiency Anemia	33
2205	c	CTR102	Cataract 2, Multiple Types	33
2206	c	CTR131	Cataract 17, Multiple Types	32
2207	P	DFN349	Deafness, Nonsyndromic Sensorineural, Mitochondrial	32
2208	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	32
2209		MTC037	Mitochondrial Phosphate Carrier Deficiency	32
2210	c	CTR187	Cataract 48	32
2211	c	CTR111	Cataract 36	32
2212	c	CTR185	Cataract 30	32
2213	c	RNL128	Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia	31
2214	c	CTR124	Cataract 10, Multiple Types	31
2215		LPP002	Lipoprotein Glomerulopathy	31
2216	c	PNT059	Pontocerebellar Hypoplasia, Type 16	31
2217	c	OPT023	Optic Atrophy 2	30
2218	c	CTR175	Cataract 24	30
2219	c	MLG151	Malignant Hyperthermia 5	30
2220	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	30
2221		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	30
2222	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	30
2223		MYP163	Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay	30
2224	c	CTR119	Cataract 32, Multiple Types	30
2225		MYP099	Myopathy, Isolated Mitochondrial, Autosomal Dominant	30
2226	c	PNT046	Pontocerebellar Hypoplasia, Type 5	30
2227		ICH043	Ichthyosis, Spastic Quadriplegia, and Mental Retardation	29
2228	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	29
2229		PLY114	Polyglucosan Body Myopathy 2	29
2230	c	PNT056	Pontocerebellar Hypoplasia, Type 15	29
2231	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	29
2232	c	SPS170	Spastic Ataxia 2	29
2233	c	CTR141	Cataract 21, Multiple Types	29
2234	c	HYP825	Hyperekplexia 4	29
2235	c	DRR021	Diarrhea 11, Malabsorptive, Congenital	28
2236	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	28
2237	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	28
2238	P	HYP821	Hypermanganesemia with Dystonia	27
2239	c	SPS208	Spastic Ataxia 4, Autosomal Recessive	27
2240	c	CTR180	Cataract 22, Multiple Types	27
2241	c	SPS171	Spastic Ataxia 5	27
2242	c	GLL027	Gallbladder Disease 4	26
2243	c	HYP819	Hyperlipoproteinemia, Type Id	26
2244	c	CTR116	Cataract 15, Multiple Types	26
2245	c	PNT055	Pontocerebellar Hypoplasia, Type 14	26
2246	c	MLG148	Malignant Hyperthermia 2	26
2247	c	CNT101	Central Congenital Hypothyroidism	26
2248	c	OPT025	Optic Atrophy 6	26
2249	c	CTR105	Cataract 12, Multiple Types	26
2250	c	CTR166	Cataract 33, Multiple Types	26
2251	c	CTR121	Cataract 25	26
2252	c	CTR097	Cataract 34, Multiple Types	26
2253	c	OPT080	Optic Atrophy 12	25
2254	c	OPT060	Optic Atrophy 8	25
2255	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	24
2256		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	24
2257		CMB079	Combined Oxidative Phosphorylation Deficiency 29	24
2258	c	CTR169	Cataract 29	24
2259	c	CTR165	Cataract 19, Multiple Types	24
2260	c	SPS214	Spastic Ataxia 4	24
2261		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	24
2262		CMB063	Combined Oxidative Phosphorylation Deficiency 25	24
2263	c	CTR162	Cataract 47	23
2264	c	CTR136	Cataract 41	23
2265	c	CTR157	Cataract 28	23
2266	c	CTR158	Cataract 37	23
2267	c	MLG149	Malignant Hyperthermia 3	23
2268	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	23
2269		NRD063	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination	23
2270		BRL013	Baralle-Macken Syndrome	23
2271		INT374	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or Without Seizures	23
2272		LKN027	Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate	23
2273	c	SPS163	Spastic Ataxia 3	22
2274	c	CTR184	Cataract 39, Multiple Types	22
2275	c	ATS438	Autosomal Recessive Spastic Ataxia	22
2276	c	CTR106	Cataract 20, Multiple Types	22
2277	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	22
2278	c	CTR110	Cataract 26, Multiple Types	22
2279	c	SPS233	Spastic Ataxia 9, Autosomal Recessive	22
2280	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	21
2281		LGH017	Leigh Syndrome with Nephrotic Syndrome	21
2282	c	CTR160	Cataract 45	21
2283	c	PNT058	Pontocerebellar Hypoplasia, Type 1f	21
2284		TMM013	Tmem70 Defect	21
2285	c	PNT060	Pontocerebellar Hypoplasia, Type 17	21
2286	c	CTR144	Cataract 43	21
2287	c	CTR178	Cataract 27	21
2288	c	MLG150	Malignant Hyperthermia 4	21
2289	P	PRM016	Primary Optic Atrophy	21
2290	c	CTR128	Cataract 33	20
2291	c	OPT059	Optic Atrophy 4	20
2292	c	CTR159	Cataract 35	20
2293	c	CTR139	Cataract 42	20
2294		MTC222	Mitochondrial Complex Iv Deficiency, Nuclear Type 15	19
2295		DSR026	Disorder of Tyrosine Metabolism	19
2296	c	PRM316	Primary Congenital Hypothyroidism	19
2297	c	MLG152	Malignant Hyperthermia 6	19
2298	c	CTR190	Cataract 49	18
2299	c	SPS229	Spastic Ataxia 8	18
2300	c	SPS162	Spastic Ataxia 1	17
2301	c	NMN010	Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset	16
2302	P	DST108	Distal Renal Tubular Acidosis with Hemolytic Anemia	16
2303		STR032	Steroid Dehydrogenase Deficiency Dental Anomalies	16
2304	c	TRN047	Transient Congenital Hypothyroidism	16
2305	c	JVN036	Juvenile Sialidosis Type 2	16
2306		HRN021	Hernández-Aguirre Negrete Syndrome	14
2307	c	CNG263	Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs	14
2308	c	CNG543	Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies	14
2309	c	DFN348	Deafness, Sensorineural, Autosomal-Mitochondrial Type	13
2310	c	SPR097	Sporadic Hyperekplexia	12
2311	c	GLL025	Gallbladder Disease 2	12
2312	c	GLL026	Gallbladder Disease 3	12
2313	c	RRH009	Rare Hypothyroidism	12
2314	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
2315	c	ATS437	Autosomal Dominant Spastic Ataxia	9
2316		HYP887	Hypertrophic Cardiomyopathy with Kidney Anomalies Due to Mitochondrial Dna Mutation	9
2317	c	KRN003	Kernicterus Due to Isoimmunization	8
2318	c	CNG591	Congenital Hypothyroidism Due to Developmental Anomaly	8
2319		HRD179	Hair Defect-Photosensitivity-Intellectual Disability Syndrome	7
2320	c	TRN075	Transient Congenital Hypothyroidism Due to Maternal Factor	5
2321	c	TRN076	Transient Congenital Hypothyroidism Due to Neonatal Factor	5
2322	c	HYP232	Hypothyroidism Due to Iodide Transport Defect	5
2323	c	SPS172	Spastic Ataxia 7	5
2324	c	CTR008	Cataract Congenital Autosomal Dominant	5
2325	c	RRD027	Rare Disease with Malignant Hyperthermia	5
2326	c	RRD014	Rare Adult Hypothyroidism	4
2327		DVL133	Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome	4
2328		MTB013	Metabolic Disease Involving Other Neurotransmitter Deficiency	3
2329		ADR007	Adrenoleukodystrophy	75
2330		WLS001	Wilson Disease	72
2331	c	NMN015	Niemann-Pick Disease, Type C1	71
2332	c	GCH015	Gaucher Disease, Type I	70
2333	c	PSD108	Pseudohypoparathyroidism, Type Ia	67
2334		LWC002	Lowe Oculocerebrorenal Syndrome	67
2335		MVL001	Mevalonic Aciduria	66
2336	P	CRN037	Craniosynostosis	66
2337		GTL001	Gitelman Syndrome	66
2338	c	CNG012	Congenital Generalized Lipodystrophy	65
2339	P	CHR071	Charcot-Marie-Tooth Disease	64
2340		ART002	Arts Syndrome	64
2341		HYP052	Hyperkalemic Periodic Paralysis	63
2342	c	NMN016	Niemann-Pick Disease, Type B	62
2343	c	CHL132	Cholestasis, Progressive Familial Intrahepatic, 1	62
2344		CHN055	Chanarin-Dorfman Syndrome	62
2345	P	HYP035	Hypophosphatasia	62
2346		PRN001	Purine Nucleoside Phosphorylase Deficiency	60
2347	P	PRM002	Primary Hyperoxaluria	60
2348	P	PRP029	Porphyria	60
2349	c	HYP293	Hypophosphatasia, Adult	60
2350	c	MSC037	Muscular Dystrophy-Dystroglycanopathy , Type a, 4	60
2351		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	59
2352		CYS010	Cystinosis	59
2353	c	LPD033	Lipodystrophy, Congenital Generalized, Type 2	59
2354		NNK001	Nonaka Myopathy	59
2355	c	CHL136	Cholestasis, Progressive Familial Intrahepatic, 2	59
2356	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	58
2357		CPR004	Coproporphyria, Hereditary	58
2358		RBF001	Riboflavin Deficiency	58
2359	P	CTS001	Cutis Laxa	57
2360	c	CTS045	Cutis Laxa, Autosomal Dominant 1	57
2361		CRB151	Cerebral Creatine Deficiency Syndrome 1	56
2362		ALP077	Alpha-Methylacetoacetic Aciduria	55
2363		ADN024	Adenine Phosphoribosyltransferase Deficiency	55
2364	c	LPD032	Lipodystrophy, Congenital Generalized, Type 1	54
2365	c	ALB009	Albinism, Oculocutaneous, Type Ia	54
2366	c	CRN278	Craniosynostosis 1	53
2367	c	HYP292	Hypophosphatasia, Infantile	53
2368	c	TYR013	Tyrosinemia, Type Ii	53
2369	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	52
2370	c	MSC093	Muscular Dystrophy-Dystroglycanopathy , Type C, 3	52
2371	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	51
2372	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	51
2373	c	MSC048	Muscular Dystrophy-Dystroglycanopathy , Type B, 1	51
2374		WRN002	Wernicke-Korsakoff Syndrome	51
2375	c	MSC035	Muscular Dystrophy-Dystroglycanopathy , Type B, 5	50
2376		CLC001	Calciphylaxis	50
2377	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	50
2378	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	50
2379	c	MSC042	Muscular Dystrophy-Dystroglycanopathy , Type B, 6	50
2380	P	TRM004	Trimethylaminuria	49
2381		HMC001	Homocarnosinosis	49
2382	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	49
2383		PHS021	Phosphoglycerate Dehydrogenase Deficiency	49
2384	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	49
2385		CRD075	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	49
2386	c	CRD179	Ceroid Lipofuscinosis, Neuronal, 7	49
2387		KNZ001	Kanzaki Disease	48
2388		CMB026	Combined Oxidative Phosphorylation Deficiency 12	48
2389	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	47
2390	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	47
2391	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	47
2392	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	47
2393	c	ATS393	Autosomal Recessive Cutis Laxa Type I	46
2394		3HY007	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	46
2395	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	46
2396	c	XLN229	X-Linked Chondrodysplasia Punctata 2	46
2397	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	46
2398	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	46
2399	P	ACQ022	Acquired Generalized Lipodystrophy	46
2400		MTH074	Methionine Adenosyltransferase I/iii Deficiency	46
2401	c	MSC100	Muscular Dystrophy-Dystroglycanopathy , Type C, 9	46
2402		MTC085	Mitochondrial Complex Iii Deficiency, Nuclear Type 1	45
2403	c	BLC008	Bile Acid Synthesis Defect, Congenital, 2	45
2404		GLT018	Glut1 Deficiency Syndrome 1	45
2405	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	45
2406	P	THP004	Thiopurines, Poor Metabolism of, 1	45
2407		FRC005	Fructosuria, Essential	45
2408		ACT209	Acatalasemia	45
2409		DBT090	Diabetes and Deafness, Maternally Inherited	45
2410	c	CRB174	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	43
2411		BJR001	Bjornstad Syndrome	43
2412	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	43
2413	c	CRD258	Ceroid Lipofuscinosis, Neuronal, 6b	43
2414	c	MSC111	Muscular Dystrophy-Dystroglycanopathy , Type C, 7	42
2415	c	CTS041	Cutis Laxa, Autosomal Dominant 3	42
2416		HYP827	Hypomagnesemia 5, Renal, with or Without Ocular Involvement	42
2417		LPS020	Lipase Deficiency, Combined	42
2418		DSM002	Desmosterolosis	42
2419		CMB054	Combined Oxidative Phosphorylation Deficiency 23	41
2420		CNZ009	Coenzyme Q10 Deficiency, Primary, 5	41
2421	c	CHR522	Charcot-Marie-Tooth Disease, Dominant Intermediate E	41
2422	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	40
2423	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	40
2424		OPT074	Optic Atrophy 7 with or Without Auditory Neuropathy	39
2425	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	39
2426	c	CRN277	Craniosynostosis 2	38
2427		GLT011	Glutamine Deficiency, Congenital	38
2428	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	38
2429	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	37
2430	c	MSC046	Muscular Dystrophy-Dystroglycanopathy , Type B, 3	37
2431	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	37
2432		3HY011	3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	37
2433	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	37
2434	c	XLN227	X-Linked Chondrodysplasia Punctata 1	37
2435	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	37
2436		24D001	2,4-Dienoyl-Coa Reductase Deficiency	37
2437		NRD004	Neurodegeneration Due to Cerebral Folate Transport Deficiency	36
2438	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	36
2439	c	BLC009	Bile Acid Synthesis Defect, Congenital, 4	36
2440	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	36
2441		HYP629	Hyperphosphatasia-Intellectual Disability Syndrome	35
2442	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	35
2443	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	35
2444	c	ATP003	Atp6v0a2-Related Cutis Laxa	35
2445	c	CTS031	Cutis Laxa, Autosomal Dominant 2	35
2446	c	MSC101	Muscular Dystrophy-Dystroglycanopathy , Type a, 7	34
2447	c	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	34
2448	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	34
2449	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	33
2450	c	CNG553	Congenital Muscular Dystrophy-Dystroglycanopathy Type A3	33
2451	c	MSC044	Muscular Dystrophy-Dystroglycanopathy , Type B, 2	33
2452	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	33
2453		URC006	Urocanase Deficiency	33
2454	c	CNG557	Congenital Muscular Dystrophy-Dystroglycanopathy Type A2	32
2455	c	CRN281	Craniosynostosis 7	32
2456		MTH013	Methylmalonate Semialdehyde Dehydrogenase Deficiency	32
2457		MTC079	Mitochondrial Pyruvate Carrier Deficiency	32
2458	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	32
2459	c	CHR699	Charcot-Marie-Tooth Disease Type 2a2a	31
2460	c	CNG546	Congenital Muscular Dystrophy-Dystroglycanopathy Type a	31
2461		XLN250	X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	31
2462	c	MSC102	Muscular Dystrophy-Dystroglycanopathy , Type a, 12	30