Genetic Diseases Category (7580 diseases)

Including: Genetic, Mendelian, Monogenic, Inherited, Familial
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	56
2		AMY082	Amyloidosis, Familial Visceral	47
3		FML026	Familial Lipoprotein Lipase Deficiency	53
4	P	FML018	Familial Mediterranean Fever	74
5		FML089	Familial Thoracic Aortic Aneurysm and Dissection	52
6	P	MLT048	Multiple Familial Trichoepithelioma	35
7	P	FML011	Familial Adenomatous Polyposis	72
8	c	FML346	Familial Adenomatous Polyposis 1	67
9	P	SZR006	Seizure Disorder	61
10	c	SZR007	Seizures, Benign Familial Infantile, 3	46
11	c	SCN009	Scn1a-Related Seizure Disorders	9
12	c	PRG126	Progressive Familial Heart Block	51
13	P	HRT035	Heart Block, Congenital	46
14		PRM175	Primary Familial Brain Calcification	44
15	c	CHL132	Cholestasis, Progressive Familial Intrahepatic, 1	53
16	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	41
17	P	HYP607	Hypercholesterolemia, Familial	82
18	P	CND004	Candidiasis	63
19	c	CHL137	Cholestasis, Progressive Familial Intrahepatic, 3	47
20	c	CND037	Candidiasis, Familial, 6	19
21		HYP190	Hypoalphalipoproteinemia, Primary	59
22	P	PRG047	Progressive Familial Intrahepatic Cholestasis	56
23	c	SZR014	Seizures, Benign Familial Infantile, 1	26
24	c	LPD015	Lipodystrophy, Familial Partial, Type 2	61
25	c	PRG042	Progressive Familial Heart Block, Type Ia	60
26	c	LPD019	Lipodystrophy, Partial, Acquired	45
27	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	42
28		BNG006	Benign Familial Neonatal Epilepsy	40
29	c	HYP535	Hypogonadotropic Hypogonadism 7 with or Without Anosmia	58
30	c	HYP513	Hypogonadotropic Hypogonadism 1 with or Without Anosmia	41
31	c	HYP763	Hypogonadotropic Hypogonadism 23 Without Anosmia	41
32	c	HYP548	Hypogonadotropic Hypogonadism 2 with or Without Anosmia	33
33	P	HYP647	Hypogonadotropic Hypogonadism 24 Without Anosmia	30
34	c	HYP565	Hypogonadotropic Hypogonadism 3 with or Without Anosmia	29
35	c	HYP531	Hypogonadotropic Hypogonadism 4 with or Without Anosmia	28
36	c	HYP547	Hypogonadotropic Hypogonadism 12 with or Without Anosmia	27
37	c	HYP444	Hypogonadotropic Hypogonadism 9 with or Without Anosmia	25
38	c	HYP552	Hypogonadotropic Hypogonadism 6 with or Without Anosmia	24
39	c	HYP514	Hypogonadotropic Hypogonadism 8 with or Without Anosmia	24
40	c	HYP532	Hypogonadotropic Hypogonadism 18 with or Without Anosmia	24
41	c	HYP549	Hypogonadotropic Hypogonadism 5 with or Without Anosmia	24
42	c	HYP511	Hypogonadotropic Hypogonadism 15 with or Without Anosmia	23
43	c	HYP443	Hypogonadotropic Hypogonadism 13 with or Without Anosmia	22
44	c	HYP817	Hypogonadotropic Hypogonadism 21 with or Without Anosmia	22
45	c	HYP820	Hypogonadotropic Hypogonadism 22 with or Without Anosmia	22
46	c	HYP518	Hypogonadotropic Hypogonadism 16 with or Without Anosmia	22
47	c	HYP546	Hypogonadotropic Hypogonadism 20 with or Without Anosmia	22
48	c	HYP521	Hypogonadotropic Hypogonadism 10 with or Without Anosmia	22
49	c	HYP522	Hypogonadotropic Hypogonadism 11 with or Without Anosmia	22
50	c	HYP523	Hypogonadotropic Hypogonadism 14 with or Without Anosmia	21
51	c	HYP538	Hypogonadotropic Hypogonadism 17 with or Without Anosmia	21
52	c	HYP557	Hypogonadotropic Hypogonadism 19 with or Without Anosmia	21
53	P	PLY018	Polycythemia	60
54	c	PRM012	Primary Polycythemia	56
55	c	ACQ010	Acquired Polycythemia	43
56	c	ATS209	Autosomal Dominant Secondary Polycythemia	20
57	c	PLY005	Polycythemia Due to Hypoxia	6
58	P	BNG026	Benign Neonatal Seizures	39
59	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	39
60		FTL002	Fatal Familial Insomnia	50
61	P	FML052	Familial Cold Autoinflammatory Syndrome	53
62	P	EPS030	Episodic Kinesigenic Dyskinesia 1	49
63	c	MYC068	Myoclonic Epilepsy of Infancy	38
64	c	FML157	Familial Male-Limited Precocious Puberty	31
65	P	EPL198	Epilepsy, Myoclonic Juvenile	30
66	c	EPL210	Epilepsy, Progressive Myoclonic, 6	28
67	c	EPL155	Epilepsy, Progressive Myoclonic, 8	27
68	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	25
69	c	EPL154	Epilepsy, Progressive Myoclonic, 9	24
70	c	EPL134	Epilepsy, Progressive Myoclonic 7	24
71	c	EPL188	Epilepsy, Progressive Myoclonic, 10	23
72	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	23
73	c	EPS013	Episodic Kinesigenic Dyskinesia 2	23
74	c	MYC086	Myoclonic Epilepsy, Juvenile 4	18
75	c	EPL186	Epilepsy, Juvenile Myoclonic 9	17
76	c	MYC085	Myoclonic Epilepsy, Juvenile 3	14
77	c	EPL009	Epilepsy Progressive Myoclonic Type 3	8
78	P	ATT003	Attenuated Familial Adenomatous Polyposis	52
79	c	CHL136	Cholestasis, Progressive Familial Intrahepatic, 2	47
80	c	HMP022	Hemophagocytic Lymphohistiocytosis, Familial, 1	46
81	P	EPL196	Epilepsy, Familial Focal, with Variable Foci 1	34
82	P	FML186	Familial Paroxysmal Nonkinesigenic Dyskinesia	34
83	c	CND034	Candidiasis, Familial, 2	30
84	c	PRX024	Paroxysmal Nonkinesigenic Dyskinesia 2	19
85		MTR030	Mitral Valve Prolapse, Familial, X-Linked	24
86		RGH011	Right Pulmonary Artery, Anomalous Origin of, Familial	14
87	P	HYP724	Hyperlipoproteinemia, Type Iii	61
88	c	HYP731	Hyperaldosteronism, Familial, Type I	56
89	P	PTT006	Pituitary Adenoma	54
90	c	PTT056	Pituitary Adenoma 1, Multiple Types	51
91	c	PRG043	Progressive Familial Heart Block, Type Ib	42
92	c	CHL143	Cholestasis, Progressive Familial Intrahepatic, 4	35
93	c	HYP819	Hyperlipoproteinemia, Type Id	19
94	c	PTT061	Pituitary Adenoma 3, Multiple Types	14
95		PRD013	Periodic Fever, Familial, Autosomal Dominant	64
96	c	ALZ056	Alzheimer Disease 3	49
97		CNV018	Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis	34
98	c	ALZ045	Alzheimer Disease 9	24
99	c	ALZ015	Alzheimer Disease 6	24
100	c	ALZ062	Alzheimer Disease 19	22
101	c	ALZ061	Alzheimer Disease 15	19
102	c	ALZ032	Alzheimer Disease 18	18
103	c	ALZ059	Alzheimer Disease 13	17
104	c	ALZ031	Alzheimer Disease 17	15
105	c	ALZ014	Alzheimer Disease 16	15
106	c	ALZ060	Alzheimer Disease 14	15
107	c	FML116	Familial Cold Autoinflammatory Syndrome 1	58
108	P	FML012	Familial Partial Lipodystrophy	52
109	c	FML023	Familial Hemiplegic Migraine	50
110	P	HMP006	Hemiplegic Migraine	49
111	c	LPD040	Lipodystrophy, Familial Partial, Type 1	43
112	c	HYP768	Hyperlipoproteinemia, Type I	42
113		LRY047	Laryngeal Abductor Paralysis	24
114		CNV009	Convulsions Benign Familial Neonatal Dominant Form	19
115	c	LPD021	Lipodystrophy, Familial Partial, Type 3	50
116	c	PRG101	Progressive Familial Heart Block, Type Ii	34
117	P	FML156	Familial Hyperaldosteronism	36
118		CYL004	Cylindromatosis, Familial	33
119	P	NTR004	Neutropenia	61
120	c	SVR003	Severe Congenital Neutropenia	58
121	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	38
122	c	HYP600	Hyperaldosteronism, Familial, Type Ii	36
123	c	LPD034	Lipodystrophy, Familial Partial, Type 4	36
124	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	35
125	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	31
126	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	29
127	c	LPD036	Lipodystrophy, Familial Partial, Type 6	25
128		HYP766	Hyperbilirubinemia, Transient Familial Neonatal	23
129	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	21
130	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	21
131	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	20
132	c	NTR045	Neutropenia, Chronic Familial	20
133		TMP005	Temporal Epilepsy, Familial	20
134	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	16
135		GNV002	Genu Valgum, St. Helena Familial	12
136	c	ELN001	Elane-Related Neutropenia	7
137	P	PRC038	Precocious Puberty, Male-Limited	43
138		FML063	Familial Glucocorticoid Deficiency	41
139	c	MGR032	Migraine, Familial Hemiplegic, 1	39
140	c	SZR023	Seizures, Benign Familial Neonatal, 2	31
141		BKS003	Beukes Hip Dysplasia	29
142	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	25
143	c	LPD030	Lipodystrophy, Familial Partial, Type 5	24
144	P	EPL164	Epilepsy	73
145	P	ATR011	Atrial Fibrillation	69
146	P	HYP069	Hyperparathyroidism	59
147	c	SCN007	Secondary Hyperparathyroidism	56
148	c	FML001	Familial Atrial Fibrillation	53
149	P	PRN026	Porencephaly	49
150	c	BNG023	Benign Familial Infantile Epilepsy	44
151	c	HYP243	Hyperparathyroidism 1	37
152	c	FML084	Familial Porencephaly	32
153	c	ART028	Aortic Aneurysm, Familial Thoracic 4	27
154	c	CND036	Candidiasis, Familial, 4	25
155	P	ACN018	Acne Inversa, Familial, 1	22
156	c	HYP720	Hyperparathyroidism 4	18
157	c	ACQ029	Acquired Porencephaly	13
158	c	DPD002	Depdc5-Related Epilepsy	5
159	c	KCN020	Kcnt1-Related Epilepsy	4
160		HMT008	Hematuria, Benign Familial	43
161	P	ADV001	Advanced Sleep Phase Syndrome	36
162		IMM153	Immunodeficiency 51	21
163		MCR031	Macrocephaly, Benign Familial	15
164	P	HYP818	Hypobetalipoproteinemia, Familial, 1	51
165		FML075	Familial Isolated Hyperparathyroidism	45
166	c	HYP290	Hypobetalipoproteinemia, Familial, 2	39
167		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	34
168	c	MGR030	Migraine, Familial Hemiplegic, 2	33
169		HYP744	Hyperpigmentation with or Without Hypopigmentation, Familial Progressive	24
170	c	SZR016	Seizures, Benign Familial Infantile, 2	22
171	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	20
172	c	HYP734	Hypercholesterolemia, Autosomal Dominant, Type B	44
173		DYS182	Dysphasia, Familial Developmental	37
174	P	FML168	Familial Isolated Pituitary Adenoma	28
175	c	BRS088	Breast-Ovarian Cancer, Familial 3	21
176	c	BRS098	Breast-Ovarian Cancer, Familial 4	19
177	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	14
178		FML155	Familial Acute Myeloid Leukemia with Mutated Cebpa	13
179		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	57
180	P	TRT019	Torticollis	49
181	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	40
182		CPL013	Capillary Malformations, Congenital	37
183	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
184	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	34
185	c	BNG079	Benign Adult Familial Myoclonic Epilepsy	32
186	c	HYP804	Hyperlipidemia, Combined, 1	31
187	c	MTR080	Mitral Valve Prolapse 1	28
188	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	26
189	c	CNG129	Congenital Torticollis	24
190	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	24
191		THM023	Thiemann Disease	23
192	c	MTR083	Mitral Valve Prolapse 3	21
193	c	MTR077	Mitral Valve Prolapse 2	19
194		CPP001	Copper Deficiency, Familial Benign	19
195		CRN069	Corneal Hypesthesia, Familial	16
196	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	15
197	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	14
198	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	14
199		MYL018	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	13
200		OSS006	Ossicular Malformations, Familial	11
201	c	TRT007	Torticollis, Familial	9
202	P	FML279	Familial Isolated Arrhythmogenic Right Ventricular Dysplasia	9
203	P	PLR004	Pleuropulmonary Blastoma	60
204	P	HYP614	Hyperlipidemia, Familial Combined	56
205	P	HYP599	Hypoparathyroidism, Familial Isolated	37
206	c	SZR022	Seizures, Benign Familial Neonatal, 1	36
207		EXD009	Exudative Vitreoretinopathy 2, X-Linked	32
208	c	HYP438	Hyperaldosteronism, Familial, Type Iii	29
209	c	PLR018	Pleuropulmonary Blastoma Type 1	10
210	c	PLR020	Pleuropulmonary Blastoma Type 3	8
211	c	PLR019	Pleuropulmonary Blastoma Type 2	8
212	c	VNT034	Ventricular Fibrillation, Paroxysmal Familial, 1	65
213		VTM028	Vitamin E, Familial Isolated Deficiency of	52
214	c	BRS110	Breast-Ovarian Cancer, Familial 1	37
215	c	PRX088	Paroxysmal Nonkinesigenic Dyskinesia 1	34
216	c	MYC083	Myoclonic Epilepsy, Familial Infantile	31
217	c	FML334	Familial Candidiasis	23
218	c	BRS111	Breast-Ovarian Cancer, Familial 2	19
219	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	14
220	P	ART067	Aortic Aneurysm, Familial Thoracic 1	67
221	P	TMP001	Temporal Lobe Epilepsy	57
222		EWN002	Ewing's Family of Tumors	57
223	P	AMY084	Amyloidosis, Finnish Type	52
224	P	EXD001	Exudative Vitreoretinopathy	50
225	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	47
226	P	PSD003	Pseudohypoaldosteronism	46
227	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	46
228	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	40
229	c	PSD092	Pseudohypoaldosteronism, Type Iie	39
230	c	FML117	Familial Cold Autoinflammatory Syndrome 2	35
231	c	EPL128	Epilepsy, Familial Temporal Lobe, 3	32
232	c	EXD010	Exudative Vitreoretinopathy 6	20
233	c	EXD012	Exudative Vitreoretinopathy 7	20
234	c	EXD007	Exudative Vitreoretinopathy 3	19
235	c	TRN053	Transient Pseudohypoaldosteronism	19
236	c	PSD068	Pseudohypoaldosteronism, Type Iic	19
237	c	PSD094	Pseudohypoaldosteronism, Type Iib	18
238		IMM172	Immunodeficiency 34	17
239		DWR023	Dwarfism, Familial, with Muscle Spasms	15
240	c	ART138	Aortic Aneurysm, Familial Abdominal, 1	66
241	c	MNN043	Meningioma, Familial	63
242	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	56
243	P	FBR031	Febrile Seizures	56
244	P	HYP050	Hyperinsulinemic Hypoglycemia	55
245	c	EPL073	Epilepsy, Nocturnal Frontal Lobe, 1	48
246	P	MYC033	Myoclonus	46
247	P	ATS011	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	39
248	P	BNG002	Benign Meningioma	35
249	c	EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	28
250	c	TRC095	Trichoepithelioma, Multiple Familial, 1	25
251	c	EPL096	Epilepsy, Nocturnal Frontal Lobe, 5	24
252	c	FML347	Familial Adenomatous Polyposis 2	24
253	c	EPL204	Epilepsy, Nocturnal Frontal Lobe, 4	24
254	c	ATS327	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2	23
255	c	FBR072	Febrile Seizures, Familial, 11	23
256	c	MYC089	Myoclonus, Familial, 1	23
257	c	CND025	Candidiasis, Familial, 8	22
258		ACN030	Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease	20
259	c	ACN016	Acne Inversa, Familial, 3	20
260	c	EPL202	Epilepsy, Nocturnal Frontal Lobe, 2	19
261	c	SZR020	Seizures, Benign Familial Infantile, 5	17
262	c	ATS379	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4	11
263	P	HYP040	Hypospadias	59
264	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	53
265	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	49
266	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	49
267	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
268	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	40
269	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
270	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	39
271	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	39
272	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	38
273	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
274	c	EPL115	Epilepsy, Familial Temporal Lobe, 2	38
275	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	38
276	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	38
277	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	38
278	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	38
279	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	37
280	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
281	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	37
282	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	36
283	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	36
284	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	36
285	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	36
286	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
287	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	35
288	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	35
289	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	35
290	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	35
291	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
292	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	34
293	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
294	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
295	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
296	P	GLM015	Glomerulopathy with Fibronectin Deposits 2	33
297	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	33
298	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
299	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
300	c	SPS031	Spastic Paraplegia 23	31
301	P	SPS012	Spastic Paraplegia 3a	31
302	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	31
303	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
304	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	31
305	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	30
306	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	30
307	c	SPS039	Spastic Paraplegia 5a	29
308	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	29
309		MTC151	Mitochondrial Complex I Deficiency, Nuclear Type 20	29
310	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	29
311	c	SPS092	Spastic Paraplegia 11	28
312	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	28
313	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	28
314	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
315	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	28
316	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
317	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	28
318	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	28
319	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	28
320	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	28
321	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	27
322	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
323	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	27
324		MYX012	Myxoma, Intracardiac	27
325	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
326	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	26
327	c	SPS036	Spastic Paraplegia 3	26
328	c	SPS021	Spastic Paraplegia 10	26
329	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
330	c	HRD186	Hereditary Spastic Paraplegia 51	26
331	c	SPS025	Spastic Paraplegia 15	25
332	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	25
333	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	25
334	c	SPS027	Spastic Paraplegia 17	24
335		JNT001	Joint Laxity, Familial	23
336	P	ARR027	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	23
337	c	SPS013	Spastic Paraplegia 8	23
338	c	CRD176	Cardiomyopathy, Familial Restrictive, 1	22
339	c	SPS020	Spastic Paraplegia 1	22
340	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	21
341	c	SPS037	Spastic Paraplegia 31	21
342	c	SPS023	Spastic Paraplegia 13	19
343	c	ART105	Aortic Aneurysm, Familial Thoracic 7	19
344	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	19
345	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	19
346	c	SPS028	Spastic Paraplegia 18	19
347	c	SPS042	Spastic Paraplegia 9	18
348	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	18
349	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	18
350	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	18
351	c	SPS034	Spastic Paraplegia 26	18
352	c	SPS032	Spastic Paraplegia 24	18
353	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	18
354	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	17
355	c	SPS029	Spastic Paraplegia 19	17
356	c	PST093	Posterior Hypospadias	17
357	c	SPS035	Spastic Paraplegia 29	17
358	c	SPS033	Spastic Paraplegia 25	17
359	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	17
360		ANR042	Aniridia - Ptosis - Intellectual Disability - Familial Obesity	16
361	c	SPS026	Spastic Paraplegia 16	16
362	c	SPS161	Spastic Paraplegia 32	16
363	c	SPS080	Spastic Paraplegia 51	16
364	c	HRD188	Hereditary Spastic Paraplegia 72	16
365	c	SPS022	Spastic Paraplegia 12	16
366	c	CRD098	Cardiomyopathy, Familial Restrictive, 3	16
367	c	SPS024	Spastic Paraplegia 14	15
368	c	SPS038	Spastic Paraplegia 39	15
369	c	FML348	Familial Pityriasis Rubra Pilaris	13
370	c	SPS040	Spastic Paraplegia 5b	12
371	c	SPS230	Spastic Paraplegia Type 49	12
372	c	HYP545	Hypospadias 3, Autosomal	12
373	c	SPS165	Spastic Paraplegia 47	11
374	P	CNG001	Congenital Myasthenic Syndrome	66
375	P	LYS001	Loeys-Dietz Syndrome	62
376	c	PRM005	Primary Hyperparathyroidism	60
377	P	SCK002	Sick Sinus Syndrome	54
378	c	LYS019	Loeys-Dietz Syndrome 1	54
379	c	LYS021	Loeys-Dietz Syndrome 3	53
380	P	OPT070	Optic Nerve Hypoplasia, Bilateral	49
381	c	MYS051	Myasthenic Syndrome, Congenital, 5	48
382	P	PLM025	Pulmonary Venoocclusive Disease	47
383	c	LYS017	Loeys-Dietz Syndrome 4	47
384	c	LYS018	Loeys-Dietz Syndrome 2	42
385	c	MYS078	Myasthenic Syndrome, Congenital, 14	40
386		MYS061	Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency	40
387	c	PLM170	Pulmonary Venoocclusive Disease 1, Autosomal Dominant	40
388	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	38
389	c	MYS052	Myasthenic Syndrome, Congenital, 10	38
390		FML307	Familial Calcium Pyrophosphate Deposition	37
391	c	MYS075	Myasthenic Syndrome, Congenital, 13	32
392	c	MYS067	Myasthenic Syndrome, Congenital, 22	29
393	c	PLM167	Pulmonary Venoocclusive Disease 2, Autosomal Recessive	28
394	c	FML213	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form	26
395	c	LYS020	Loeys-Dietz Syndrome 5	26
396		VNT032	Ventricular Tachycardia, Familial	26
397	c	FML339	Familial Adenomatous Polyposis 4	24
398	c	MYS076	Myasthenic Syndrome, Congenital, 8	24
399	c	MYS056	Myasthenic Syndrome, Congenital, 17	24
400	P	HYD015	Hydroa Vacciniforme	24
401	c	CSH006	Cushing Syndrome Due to Macronodular Adrenal Hyperplasia	23
402	c	MYS074	Myasthenic Syndrome, Congenital, 12	23
403	c	SCK017	Sick Sinus Syndrome 1	23
404	c	MYS064	Myasthenic Syndrome, Congenital, 16	22
405	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	22
406	c	MYS070	Myasthenic Syndrome, Congenital, 19	21
407	c	MYS065	Myasthenic Syndrome, Congenital, 18	21
408	c	MYS077	Myasthenic Syndrome, Congenital, 15	21
409		IMM099	Immunodeficiency 33	21
410		FML254	Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion	20
411	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	19
412		OST150	Osteodysplasia, Familial, Anderson Type	18
413	c	SCK022	Sick Sinus Syndrome 3	17
414	c	FML309	Familial Infantile Bilateral Striatal Necrosis	13
415		SHL003	Shoulder Girdle Defect Mental Retardation Familial	13
416	c	SPR070	Sporadic Infantile Bilateral Striatal Necrosis	12
417	P	CSH002	Cushing Syndrome, Familial	11
418	c	HYD016	Hydroa Vacciniforme, Familial	10
419		UMB003	Umbilicus, Familial Flat	8
420	c	OPT030	Optic Nerve Hypoplasia, Familial Bilateral	7
421	c	HMR010	Hemeralopia, Congenital Essential	4
422	P	HMR011	Hemeralopia, Familial	3
423	c	EXD008	Exudative Vitreoretinopathy 1	73
424	c	LPM012	Lipomatosis, Multiple	66
425	P	ERY058	Erythrocytosis, Familial, 1	58
426	P	LPM005	Lipomatosis	53
427		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	48
428	c	ERY048	Erythrocytosis, Familial, 2	48
429		FML036	Familial Periodic Paralysis	46
430		DSM003	Desmoid Disease, Hereditary	44
431	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	44
432	c	CHR630	Chorea, Benign Hereditary	35
433	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	33
434	c	GNR039	Generalized Epilepsy with Febrile Seizures Plus, Type 2	30
435	c	EPS039	Episodic Pain Syndrome, Familial, 1	27
436		ESN023	Eosinophilia, Familial	23
437	c	GNR041	Generalized Epilepsy with Febrile Seizures Plus, Type 3	21
438	c	EPL150	Epilepsy, Familial Temporal Lobe, 7	20
439	c	GNR034	Generalized Epilepsy with Febrile Seizures Plus, Type 9	20
440	c	ERY032	Erythrocytosis, Familial, 4	17
441	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	16
442	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	13
443	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	13
444	c	ALZ049	Alzheimer Disease 2	61
445	P	ANT006	Antiphospholipid Syndrome	60
446		STT041	Stuttering	55
447	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	52
448	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	43
449	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	38
450	c	EPL114	Epilepsy, Familial Temporal Lobe, 1	37
451		INT304	Interstitial Pneumonitis, Desquamative, Familial	36
452		CHR525	Chromosome Xq26.3 Duplication Syndrome	32
453	c	ART071	Aortic Aneurysm, Familial Thoracic 6	32
454	P	PRD017	Periodic Paralyses	30
455	P	FML313	Familial Progressive Hyperpigmentation	28
456	c	ANT041	Antiphospholipid Syndrome, Familial	26
457	c	GZP003	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1	26
458	c	CND033	Candidiasis, Familial, 1	21
459	c	ARR041	Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	20
460	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	19
461	c	EPL081	Epilepsy, Familial Temporal Lobe, 5	19
462	c	FBR069	Febrile Seizures, Familial, 4	18
463	c	ERY031	Erythrocytosis, Familial, 3	18
464	c	EPL152	Epilepsy, Familial Temporal Lobe, 8	17
465	c	FML159	Familial Periodic Paralyses	17
466	c	TRC094	Trichoepithelioma, Multiple Familial, 2	17
467		DSC014	Discoid Fibromas, Familial Multiple	17
468	c	VNT012	Ventricular Fibrillation, Paroxysmal Familial, 2	17
469	P	FML048	Familial Avascular Necrosis of the Femoral Head	17
470	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	15
471	P	XNC004	X Inactivation, Familial Skewed, 1	14
472		MLT051	Multiple Fibrofolliculoma Familial	6
473	P	AMY004	Amyloidosis	69
474	P	HYP802	Hypocalcemia, Autosomal Dominant 1	66
475	P	HLP001	Holoprosencephaly	65
476	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
477	c	AMY009	Amyloidosis Aa	56
478	c	HLP023	Holoprosencephaly 1	50
479	P	FML035	Familial Hyperlipidemia	50
480	c	HRD039	Hereditary Amyloidosis	48
481	c	HYP739	Hyperlipoproteinemia, Type Iv	47
482	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	46
483	c	ALZ050	Alzheimer Disease 5	46
484	c	HLP024	Holoprosencephaly 2	40
485	c	HYP396	Hypercholesterolemia, Autosomal Recessive	40
486	c	HLP029	Holoprosencephaly 4	39
487	c	HLP026	Holoprosencephaly 3	38
488	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	38
489	P	HYP733	Hypercalciuria, Absorptive, 2	34
490		ASP026	Asplenia, Isolated Congenital	32
491	c	HLP028	Holoprosencephaly 5	32
492	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	30
493	c	FML299	Familial Adenomatous Polyposis 3	27
494		FML206	Familial Cerebral Saccular Aneurysm	26
495	c	HLP025	Holoprosencephaly 9	25
496	P	INT260	Intracranial Berry Aneurysm	24
497	c	HLP016	Holoprosencephaly 11	24
498		DCR009	Dicer1-Related Disorders	23
499	c	HLP027	Holoprosencephaly 7	23
500	c	SCK014	Sick Sinus Syndrome 2	23
501		FML211	Familial Papillary or Follicular Thyroid Carcinoma	22
502	c	HLP022	Holoprosencephaly 8	22
503		LNT008	Lentiginosis, Inherited Patterned	21
504	c	HYP564	Hypocalcemia, Autosomal Dominant 2	19
505	c	PRM150	Primary Localized Amyloidosis	19
506	c	AHM002	Ah Amyloidosis	17
507	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	16
508	c	CND027	Candidiasis, Familial, 3	16
509	c	NNS019	Nonsyndromic Holoprosencephaly	15
510	c	SZR025	Seizures, Benign Familial Neonatal, 3	14
511		GGN006	Gigantiform Cementoma, Familial	14
512	c	FCL065	Facial Palsy, Familial Recurrent Peripheral	14
513	c	FBR067	Febrile Seizures, Familial, 9	13
514	c	HYP809	Hypercalciuria, Absorptive, 1	13
515	c	HLP021	Holoprosencephaly 6	13
516	c	SZR024	Seizures, Benign Familial Neonatal, Autosomal Recessive	13
517	c	ANR011	Aneurysm, Intracranial Berry, 2	13
518	c	ANR028	Aneurysm, Intracranial Berry, 3	12
519	c	SZR011	Seizures, Benign Familial Infantile, 4	12
520		SYN087	Synovial Chondromatosis, Familial, with Dwarfism	11
521	c	ANR022	Aneurysm, Intracranial Berry, 4	11
522	c	ART152	Aortic Aneurysm, Familial Abdominal, 3	11
523	c	FBR076	Febrile Seizures, Familial, 7	10
524	c	ANR023	Aneurysm, Intracranial Berry, 7	10
525	c	ANR029	Aneurysm, Intracranial Berry, 6	10
526	c	ANR024	Aneurysm, Intracranial Berry, 9	10
527	c	ANR030	Aneurysm, Intracranial Berry, 8	10
528	c	ANR025	Aneurysm, Intracranial Berry, 10	10
529	c	ANR039	Aneurysm, Intracranial Berry, 11	10
530	c	ANR026	Aneurysm, Intracranial Berry, 5	10
531	P	RCR003	Recurrent Peripheral Facial Palsy	9
532		CBP001	Cebpa-Associated Familial Acute Myeloid Leukemia	8
533		THR043	Thrombomodulin Anomalies, Familial	7
534		FML086	Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect	6
535		FML088	Familial Streblodactyly	6
536	c	DYS165	Dysfibrinogenemia, Congenital	37
537	c	CRD219	Cardiomyopathy, Infantile Hypertrophic	31
538		DYS140	Dyskinesia, Familial, with Facial Myokymia	29
539		DGT005	Digital Arthropathy-Brachydactyly, Familial	25
540	c	GNR043	Generalized Epilepsy with Febrile Seizures Plus, Type 7	24
541	c	EPS028	Episodic Pain Syndrome, Familial, 3	22
542	c	ATR072	Atrial Fibrillation, Familial, 13	20
543	c	FML270	Familial Cold Autoinflammatory Syndrome 4	20
544	c	ATR059	Atrial Fibrillation, Familial, 11	19
545	c	ATR069	Atrial Fibrillation, Familial, 12	19
546	c	CRD242	Cardiomyopathy, Familial Hypertrophic 27	18
547	c	ATR068	Atrial Fibrillation, Familial, 14	18
548	c	ERY063	Erythrocytosis, Familial, 5	16
549	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	14
550	c	HYP486	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training	8
551	P	PRK057	Parkinson Disease, Late-Onset	77
552	P	CRY007	Cryoglobulinemia, Familial Mixed	55
553	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	53
554	c	ALZ054	Alzheimer Disease 4	47
555	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	47
556	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	45
557	c	ARR046	Arrhythmogenic Right Ventricular Dysplasia, Familial, 2	42
558	c	ERL056	Early-Onset Parkinson's Disease	40
559	c	TYP024	Type Ii Mixed Cryoglobulinemia	40
560	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	40
561	c	PRK025	Parkinson Disease 10	35
562	c	HRD173	Hereditary Late-Onset Parkinson Disease	34
563	P	HYP078	Hypertrophy of Breast	33
564		PGM029	Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked	33
565	c	PRK085	Parkinson Disease 1, Autosomal Dominant	32
566	c	PRK071	Parkinson Disease 14, Autosomal Recessive	30
567	c	HYP805	Hypercholesterolemia, Autosomal Dominant, 3	29
568	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	28
569	c	PRK093	Parkinson Disease 8, Autosomal Dominant	28
570	c	PRK022	Parkinson Disease 12	26
571	c	PSD093	Pseudohypoaldosteronism, Type Iid	26
572	c	PRK065	Parkinson Disease 20, Early-Onset	25
573		CD8002	Cd8 Deficiency, Familial	25
574	P	TTH010	Tooth Agenesis, Selective, 1	24
575	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	24
576		HYP344	Hyperthyroidism, Familial Gestational	24
577	P	FML340	Familial Episodic Pain Syndrome	24
578	c	PRK052	Parkinson Disease 17	23
579	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
580	c	PRK099	Parkinson Disease 18, Autosomal Dominant	23
581	c	PRK070	Parkinson Disease 21	22
582	c	JVN058	Juvenile-Onset Parkinson's Disease	22
583	c	PRK008	Parkinson Disease Type 9	22
584		HYP279	Hypercholanemia, Familial	22
585	c	TTH013	Tooth Agenesis, Selective, 4	22
586		CRR016	Cirrhosis, Familial	21
587		GLC043	Glucocorticoid Deficiency 2	21
588		SCP007	Scaphocephaly, Maxillary Retrusion, and Mental Retardation	21
589		CLL041	Collagenoma, Familial Cutaneous	20
590	c	PRK094	Parkinson Disease 11, Autosomal Dominant	20
591	c	ADV003	Advanced Sleep Phase Syndrome, Familial, 1	20
592	c	ATR039	Atrial Fibrillation, Familial, 4	19
593	c	ATR035	Atrial Fibrillation, Familial, 6	19
594	c	ART118	Aortic Aneurysm, Familial Thoracic 9	19
595	c	CND031	Candidiasis, Familial, 9	19
596	c	HYP678	Hypertrophy of the Breast, Juvenile	19
597	c	PRK083	Parkinson Disease 22, Autosomal Dominant	19
598	c	ATR061	Atrial Fibrillation, Familial, 10	19
599	c	PRK096	Parkinson Disease 13, Autosomal Dominant	19
600	c	HYP708	Hyperaldosteronism, Familial, Type Iv	18
601	c	ADV007	Advanced Sleep Phase Syndrome, Familial, 2	18
602	c	ATR092	Atrial Fibrillation, Familial, 15	18
603	c	ATR037	Atrial Fibrillation, Familial, 7	18
604	c	LRR001	Lrrk2-Related Parkinson Disease	18
605	c	ATR038	Atrial Fibrillation, Familial, 3	17
606	c	ATR085	Atrial Fibrillation, Familial, 18	17
607	c	ART133	Aortic Aneurysm, Familial Thoracic 11	17
608	c	ART107	Aortic Aneurysm, Familial Thoracic 8	17
609	c	TTH012	Tooth Agenesis, Selective, 3	17
610	c	TTH011	Tooth Agenesis, Selective, 2	17
611	c	PRK058	Parkinson Disease 16	17
612		GLC053	Glucocorticoid Deficiency 3	16
613	c	ADV006	Advanced Sleep Phase Syndrome, Familial, 3	16
614	c	PRK098	Parkinson Disease 5, Autosomal Dominant	16
615	c	ATR070	Atrial Fibrillation, Familial, 9	16
616	c	TTH027	Tooth Agenesis, Selective, 8	16
617	c	TTH025	Tooth Agenesis, Selective, 9	15
618	c	TTH026	Tooth Agenesis, Selective, 7	15
619	c	TTH017	Tooth Agenesis, Selective, 5	14
620	c	MXD037	Mixed Cryoglobulinemia Type Iii	12
621	c	ERY064	Erythrocytosis, Familial, 6	12
622	c	HYP333	Hyperlipidemia, Combined, 2	11
623	c	XNC002	X Inactivation, Familial Skewed, 2	10
624	c	VPS003	Vps35-Related Parkinson Disease	10
625		FML160	Familial Spastic Paralysis	6
626	c	SYS001	Systemic Lupus Erythematosus	88
627	c	CHR089	Chronic Kidney Failure	73
628	P	KDN018	Kidney Disease	71
629	c	ART115	Aortic Valve Disease 1	70
630	P	PLM036	Pulmonary Fibrosis	70
631	P	LPS004	Lupus Erythematosus	69
632	c	MGR028	Migraine with or Without Aura 1	69
633	c	ART101	Aortic Valve Disease 2	68
634	c	WLM013	Wilms Tumor 1	68
635	c	MLT160	Multiple Endocrine Neoplasia, Type Iia	67
636	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	65
637		HYP020	Hyperprolactinemia	64
638	c	WLM018	Wilms Tumor 5	64
639	P	OVR049	Ovarian Disease	63
640	P	MYS005	Myositis	62
641	P	HMN010	Hemangioma	61
642	c	MLT159	Multiple Endocrine Neoplasia, Type Iib	59
643	P	KDN017	Kidney Cancer	59
644	c	VSC019	Vesicoureteral Reflux 1	58
645	P	PMP005	Pemphigus Vulgaris	58
646	P	MLT074	Multiple Endocrine Neoplasia	56
647	c	ACT071	Acute Kidney Failure	54
648	P	OTS001	Otosclerosis	54
649	c	MLT086	Multiple Endocrine Neoplasia, Type Iv	53
650		PSD021	Pseudovaginal Perineoscrotal Hypospadias	53
651	P	ART018	Aortic Valve Insufficiency	50
652		ACH015	Achalasia, Familial Esophageal	49
653	P	MGR001	Migraine Without Aura	48
654		HRT015	Heritable Pulmonary Arterial Hypertension	48
655		GTR011	Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors	43
656	c	FML297	Familial Thyroid Dyshormonogenesis	42
657	c	PMP006	Pemphigus Vulgaris, Familial	41
658	P	MYG005	Myoglobinuria	41
659	c	WLM011	Wilms Tumor 6	40
660		CLB019	Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly	40
661		PRM237	Primary Hypomagnesemia	39
662		DSQ001	Desquamative Interstitial Pneumonia	38
663	c	SYS043	Systemic Lupus Erythematosus 1	38
664	c	MYG007	Myoglobinuria, Recurrent	38
665		FBR089	Fibrosclerosis, Multifocal	37
666		FML304	Familial Isolated Dilated Cardiomyopathy	36
667	c	SYS061	Systemic Lupus Erythematosus 16	36
668	P	HRD009	Hereditary Wilms' Tumor	35
669		SHR108	Short Stature, Idiopathic, X-Linked	34
670	c	CRN236	Corneal Dystrophy, Lattice Type I	33
671	c	PRP091	Porphyria Cutanea Tarda, Type I	33
672	c	PSD090	Pseudohypoaldosteronism, Type Iia	33
673	P	LTT001	Lattice Corneal Dystrophy	31
674		HYP249	Hyperthyroidism, Nonautoimmune	31
675	c	PRV019	Periventricular Nodular Heterotopia 1	31
676	c	OTS005	Otosclerosis 1	30
677	P	ATS382	Autosomal Dominant Tubulointerstitial Kidney Disease	30
678	P	FML284	Familial Vesicoureteral Reflux	30
679	c	HYP699	Hyperekplexia 1	29
680	P	THY061	Thyroid Dyshormonogenesis 2a	28
681	c	MLG144	Malignant Hemangioma	28
682	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	27
683	c	FML269	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis	27
684	c	ALZ012	Alzheimer Disease 12	27
685	c	THY071	Thyroid Dyshormonogenesis 1	27
686	c	ALZ016	Alzheimer Disease 8	26
687		HYP677	Hyperthyroxinemia, Familial Dysalbuminemic	25
688	c	THY056	Thyroid Dyshormonogenesis 3	25
689	c	EPL113	Epilepsy, Familial Temporal Lobe, 4	25
690		FML215	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	25
691		FML214	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form	25
692	c	THY063	Thyroid Dyshormonogenesis 4	25
693	c	ALZ053	Alzheimer Disease 7	25
694	c	CRN160	Corneal Dystrophy, Lattice Type Iiia	25
695	c	FML324	Familial Porphyria Cutanea Tarda	24
696		FLR007	Failure of Tooth Eruption, Primary	24
697		HRD207	Hereditary Transthyretin Amyloidosis	24
698		EDC001	Edict Syndrome	24
699		VLV047	Volvulus of Midgut	23
700	c	LTT008	Lattice Corneal Dystrophy Type Ii	23
701	c	SYS038	Systemic Lupus Erythematosus 2	23
702	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	23
703	c	SYS069	Systemic Lupus Erythematosus 6	23
704		CRT040	Corticosterone Methyloxidase Type Ii Deficiency	23
705	c	FBR073	Febrile Seizures, Familial, 1	22
706	c	ATS310	Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related	22
707	c	ATS419	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations	22
708		FCT029	Factor V and Factor Viii, Combined Deficiency of, 1	22
709	c	ALZ057	Alzheimer Disease 10	21
710		FML293	Familial Isolated Restrictive Cardiomyopathy	21
711	c	PRV018	Periventricular Nodular Heterotopia 7	21
712	c	HYP510	Hyperekplexia 2	20
713	c	ARR049	Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	20
714	c	WLM005	Wilms Tumor 2	20
715	c	ACQ004	Acquired Hemangioma	20
716	c	HYP825	Hyperekplexia 4	19
717	c	PRV016	Periventricular Nodular Heterotopia 6	19
718	c	SYS040	Systemic Lupus Erythematosus 10	19
719	c	ARR047	Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	19
720	c	WLM017	Wilms Tumor 4	19
721	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
722	c	HYP519	Hyperekplexia 3	18
723	c	THY062	Thyroid Dyshormonogenesis 5	18
724	c	THY110	Thyroid Dyshormonogenesis 6	18
725	c	VSC046	Vesicoureteral Reflux 8	18
726	c	MGR036	Migraine with or Without Aura 2	18
727	c	VSC025	Vesicoureteral Reflux 3	17
728	c	MGR023	Migraine Without Aura 4	17
729	c	MGR024	Migraine with or Without Aura 5	17
730	c	ATS312	Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	17
731		FML325	Familial Cervical Artery Dissection	17
732	c	MGR038	Migraine with or Without Aura 10	17
733	c	VSC020	Vesicoureteral Reflux 2	16
734	c	MYG006	Myoglobinuria, Autosomal Dominant	16
735	c	MGR040	Migraine with or Without Aura 12	16
736	c	PLM044	Pulmonary Fibrosis, Familial	16
737		ANG063	Angiolipomatosis, Familial	16
738	c	OTS007	Otosclerosis 3	16
739	c	WLM015	Wilms Tumor 3	15
740	c	OTS012	Otosclerosis 10	15
741	c	SYS041	Systemic Lupus Erythematosus 9	15
742	c	SYS046	Systemic Lupus Erythematosus 3	15
743	c	MGR022	Migraine with or Without Aura 3	15
744	c	EPL124	Epilepsy, Familial Temporal Lobe, 6	15
745	c	PRV021	Periventricular Nodular Heterotopia 8	15
746	c	FBR074	Febrile Seizures, Familial, 6	15
747	c	FBR075	Febrile Seizures, Familial, 2	15
748	c	FBR071	Febrile Seizures, Familial, 5	15
749	c	MGR039	Migraine with or Without Aura 11	14
750	c	SYS065	Systemic Lupus Erythematosus 11	14
751	c	FBR068	Febrile Seizures, Familial, 10	14
752	c	SYS053	Systemic Lupus Erythematosus 5	14
753		CMD004	Comedones, Familial Dyskeratotic	14
754		HYP786	Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy	14
755	P	SPR076	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis	14
756	c	OTS010	Otosclerosis 7	14
757		ERY057	Erythema Nodosum, Familial	14
758	c	OTS011	Otosclerosis 8	14
759	c	SYS055	Systemic Lupus Erythematosus 12	13
760	c	AXN008	Axin2-Related Attenuated Familial Adenomatous Polyposis	13
761	c	MGR042	Migraine with or Without Aura 13	13
762	c	OTS008	Otosclerosis 4	13
763	c	SPR097	Sporadic Hyperekplexia	13
764	c	SYS047	Systemic Lupus Erythematosus 7	13
765	c	SYS051	Systemic Lupus Erythematosus 4	13
766		FCT027	Factors Viii, Ix and Xi, Combined Deficiency of	13
767	c	BCT018	Bacterial Myositis	13
768		DGH001	Doughnut Lesions of Skull, Familial	12
769	c	VRL025	Viral Myositis	12
770	c	VSC043	Vesicoureteral Reflux 6	12
771	c	ART151	Aortic Aneurysm, Familial Abdominal, 2	12
772	c	PRV013	Periventricular Nodular Heterotopia 3	12
773	c	SYS048	Systemic Lupus Erythematosus 8	11
774	c	SYS045	Systemic Lupus Erythematosus 14	11
775	c	SYS052	Systemic Lupus Erythematosus 13	11
776	c	SYS067	Systemic Lupus Erythematosus 15	11
777	c	OTS006	Otosclerosis 2	11
778		FCT025	Factor Vii and Factor Viii, Combined Deficiency of	11
779	c	VSC042	Vesicoureteral Reflux 5	11
780	c	MGR037	Migraine with or Without Aura 8	11
781	c	RNL016	Renal Infectious Disease	11
782	c	CRD057	Cardiomyopathy, Familial Restrictive, 2	10
783	c	OTS009	Otosclerosis 5	10
784		IMM016	Immune Deficiency, Familial Variable	10
785		FCT028	Factor Ix and Factor Xi, Combined Deficiency of	10
786	c	VSC040	Vesicoureteral Reflux 4	10
787	c	VSC041	Vesicoureteral Reflux 7	10
788		NGY001	Nguyen Syndrome	10
789	c	CNG346	Congenital Aortic Valve Insufficiency	10
790		FCT026	Factor Viii and Factor Ix, Combined Deficiency of	10
791	c	ADV008	Advanced Sleep Phase Syndrome 2	9
792		HYP694	Hyperreninemic Hypoaldosteronism, Familial, 2	9
793		GNT044	Genetic Atypical Hemolytic-Uremic Syndrome	9
794	c	RNR002	Ren-Related Kidney Disease	9
795	c	KDN012	Kidney Carcinoma in Situ	8
796	P	STT036	Stuttering, Familial Persistent, 3	8
797	c	STT039	Stuttering, Familial Persistent, 4	8
798	c	LCL003	Localized Pulmonary Fibrosis	6
799	c	FML158	Familial Hemangioma	6
800	c	RNL033	Renal Carcinoma, Familial	5
801		LTR010	Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities	5
802	c	OTS004	Otosclerosis, Familial	5
803	c	MYG002	Myoglobinuria Dominant Form	4
804	c	OVR071	Ovarian Insufficiency, Familial	4
805	c	SZR003	Seizures Benign Familial Neonatal Recessive Form	4
806	P	MTR029	Mitral Valve Prolapse, Familial, Autosomal Dominant	3
807	c	OVR070	Ovarian Insufficiency Due to Fsh Resistance	3
808		HYP197	Hypofibrinogenemia, Familial	3
809		ANT031	Anterior Pituitary Insufficiency, Familial	3
810		FML082	Familial Partial Paralysis	3
811		NPH022	Nephropathy Familial with Hyperuricemia	3
812		NPH020	Nephronophthisis Familial Adult Spastic Quadriparesis	3
813		EPL014	Epilepsy, Partial, Familial	2
814		HYP153	Hypergonadotropic Ovarian Failure, Familial or Sporadic	2
815		PLM063	Pulmonary Hypoplasia Familial Primary	2
816		HYP177	Hypertensive Hypokalemia Familial	2
817		DST014	Distal Primary Acidosis, Familial	2
818		PLM055	Pulmonary Artery Familial Dilatation	2
819		RGH002	Right Atrium Familial Dilatation	2
820		NSL012	Nasal Polyposis, Familial	2
821	P	HMR012	Hemorrhagic Fever	60
822	P	HYP750	Hypertriglyceridemia, Familial	58
823		ACT164	Actinic Prurigo	49
824	c	HYP555	Hypertriglyceridemia, Transient Infantile	43
825	c	VRL017	Viral Hemorrhagic Fever	36
826		ATN012	Autoinflammatory Syndrome, Familial, Behcet-Like	21
827	c	EPL187	Epilepsy, Familial Focal, with Variable Foci 2	18
828	c	EPL192	Epilepsy, Familial Focal, with Variable Foci 3	18
829	c	EPS027	Episodic Pain Syndrome, Familial, 2	17
830	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	14
831	P	GLL022	Guillain-Barre Syndrome	64
832	P	BRG001	Brugada Syndrome	62
833		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	61
834	P	ACQ022	Acquired Generalized Lipodystrophy	54
835	c	CNG012	Congenital Generalized Lipodystrophy	52
836	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	51
837		FML091	Familial Tumoral Calcinosis	46
838	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	44
839		LCR013	Lacrimal Duct Defect	42
840	c	BRG005	Brugada Syndrome 1	41
841	P	VRT013	Vertigo, Benign Recurrent	39
842	c	BRG007	Brugada Syndrome 5	32
843		ATS009	Autosomal Genetic Disease	30
844	c	GLL037	Guillain-Barre Syndrome, Familial	30
845	c	ERY065	Erythrocytosis, Familial, 7	26
846	c	BRG006	Brugada Syndrome 2	26
847		GLC105	Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency	25
848	c	ART134	Aortic Aneurysm, Familial Thoracic 10	22
849	c	BRG003	Brugada Syndrome 3	21
850	c	BRG012	Brugada Syndrome 9	21
851		PPL052	Papillomatosis, Confluent and Reticulated	21
852	P	XLN230	X-Linked Monogenic Disease	20
853	c	BRG009	Brugada Syndrome 7	20
854	c	BRG004	Brugada Syndrome 4	19
855	c	BRG010	Brugada Syndrome 8	18
856	c	EPL220	Epilepsy, Familial Focal, with Variable Foci 4	18
857	c	BRG008	Brugada Syndrome 6	17
858	c	GZP004	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2	16
859	c	HYP563	Hyperpigmentation, Familial Progressive, 1	15
860	c	VRT008	Vertigo, Benign Recurrent, 2	7
861	c	YLN002	Y-Linked Monogenic Disease	3
862	c	HYP595	Hypertension, Essential	77
863	P	RTN024	Retinoblastoma	73
864	c	THR092	Thrombophilia Due to Thrombin Defect	70
865	P	DYS154	Dystonia	66
866		OVR029	Ovarian Hyperstimulation Syndrome	65
867	c	THR082	Thrombophilia Due to Activated Protein C Resistance	60
868	P	HYP083	Hypopituitarism	59
869	P	LCH002	Lichen Planus	59
870	P	SHR029	Short Syndrome	57
871	P	THR015	Thrombophilia	56
872		VTM027	Vitamin D-Dependent Rickets, Type 2a	56
873	P	ACT008	Actinic Keratosis	55
874	P	LFT003	Left Ventricular Noncompaction	55
875	P	OBS001	Obstructive Jaundice	54
876	P	DPY001	Dupuytren Contracture	53
877		TTH002	Tooth Agenesis	53
878		HYP732	Hyperalphalipoproteinemia 1	51
879	P	BND018	Band Heterotopia	51
880		MCL027	Macular Dystrophy, Dominant Cystoid	51
881	P	RNL017	Renal Oncocytoma	51
882		HMZ003	Homozygous Familial Hypercholesterolemia	49
883	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	48
884		BNG009	Benign Epilepsy with Centrotemporal Spikes	48
885	P	KRT005	Keratoacanthoma	48
886	P	CLS010	Cluster Headache	46
887	P	HRD086	Hereditary Hypophosphatemic Rickets	45
888	c	SHR030	Short Qt Syndrome	44
889	c	ANT077	Anterior Segment Dysgenesis 1	43
890	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	43
891	P	HMF004	Hemifacial Spasm	43
892		BRR012	Berardinelli-Seip Congenital Lipodystrophy	43
893	c	VNT010	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	42
894	P	FML187	Familial Hypertension	42
895	P	HYP120	Hypoaldosteronism	40
896	P	ORF002	Orofacial Cleft	40
897		NND010	Nondisjunction	40
898	c	CHL140	Chilblain Lupus 1	40
899	c	ANT086	Anterior Segment Dysgenesis 2	38
900		PDT014	Pediatric Ependymoma	38
901	c	DYS119	Dystonia 9	38
902	c	MNS014	Monosomy 22	38
903		SPN354	Spinal Arachnoiditis	38
904	c	ANT071	Anterior Segment Dysgenesis 4	37
905		FCT034	Factor V and Factor Viii, Combined Deficiency of, 2	36
906	c	SPR083	Sporadic Hemiplegic Migraine	36
907	c	CLR085	Colorectal Cancer 1	36
908	c	VNT029	Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	35
909	c	ALZ063	Alzheimer's Disease 1	34
910	c	FML008	Familial Retinoblastoma	34
911	P	GLM006	Glomangioma	34
912	c	FML294	Familial Short Qt Syndrome	33
913	c	HRD198	Hereditary Dystonia	32
914	c	FML311	Familial Colorectal Cancer Type X	31
915	c	ART068	Aortic Aneurysm, Familial Thoracic 2	31
916	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	31
917	c	CLR077	Colorectal Cancer 10	30
918	P	ACT232	Acute Necrotizing Encephalopathy	30
919	c	LFT021	Left Ventricular Noncompaction 1	30
920	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	30
921	P	CRY006	Cryofibrinogenemia	30
922	c	DYS059	Dystonia 16	28
923		FML292	Familial Drusen	28
924		IDP085	Idiopathic Infantile Hypercalcemia	28
925	c	MLG039	Malignant Essential Hypertension	28
926	c	DYS146	Dystonia 24	28
927	c	ANT084	Anterior Segment Dysgenesis 3	28
928	c	FML306	Familial or Sporadic Hemiplegic Migraine	27
929	c	DYS162	Dystonia, Juvenile-Onset	27
930	c	ORF048	Orofacial Cleft 1	27
931	c	CLR080	Colorectal Cancer 5	26
932		HYP693	Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia	25
933	c	DYS145	Dystonia 23	25
934	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	25
935	c	BNG021	Benign Essential Hypertension	25
936	c	ANT083	Anterior Segment Dysgenesis 7	25
937	c	ANT085	Anterior Segment Dysgenesis 5	25
938	c	HYP311	Hyperparathyroidism 3	25
939	c	MYS062	Myasthenic Syndrome, Congenital, 2a, Slow-Channel	24
940	c	CLR079	Colorectal Cancer 2	24
941	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	24
942	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	24
943	c	ORF027	Orofacial Cleft 11	24
944		PTR030	Pterygium of Conjunctiva and Cornea	23
945	c	FML223	Familial Keratoacanthoma	23
946	P	FML305	Familial Abdominal Aortic Aneurysm	23
947	c	MLG080	Malignant Secondary Hypertension	23
948	c	CLR087	Colorectal Cancer 12	23
949	c	PRK091	Parkinson Disease 4, Autosomal Dominant	23
950		DRM041	Dermoid Cysts, Familial Frontonasal	22
951	c	ORF028	Orofacial Cleft 10	22
952	c	SHR032	Short Qt Syndrome 2	22
953	c	CLR075	Colorectal Cancer 3	22
954	c	DYS151	Dystonia 25	22
955	P	MNS011	Monosomy 9q22.3	22
956	c	SHR031	Short Qt Syndrome 1	22
957	c	VNT027	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	22
958	c	DYS172	Dystonia 27	22
959	c	HMF011	Hemifacial Spasm, Familial	21
960	P	FML337	Familial Chilblain Lupus	21
961	c	MNS008	Monosomy 21	21
962	c	ATR026	Atrial Fibrillation, Familial, 1	21
963	c	DYS138	Dystonia 21	21
964	c	SCN048	Secondary Syringomyelia	21
965	P	CNG070	Congenital Dislocation of the Patella	21
966		LRY046	Laryngeal Web, Familial	21
967	c	ERY067	Erythrocytosis, Familial, 8	21
968	c	GNS004	Geniospasm 1	21
969	c	CLR081	Colorectal Cancer 6	21
970	c	ALZ058	Alzheimer Disease 11	21
971	c	LFT017	Left Ventricular Noncompaction 8	20
972	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	20
973	c	SHR033	Short Qt Syndrome 3	20
974	c	ORF049	Orofacial Cleft 3	19
975	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	19
976	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	19
977		CRT064	Corticosterone Methyloxidase Deficiency	19
978	c	ORF047	Orofacial Cleft 15	19
979	c	HYP376	Hypouricemia, Renal, 2	18
980	c	LFT018	Left Ventricular Noncompaction 10	18
981	c	ORF050	Orofacial Cleft 2	18
982	c	ANT087	Anterior Segment Dysgenesis 6	18
983	c	ANT067	Anterior Segment Dysgenesis 8	18
984	c	PRT045	Prothrombin-Related Thrombophilia	18
985	c	CHL114	Chilblain Lupus 2	18
986		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	18
987		CRN258	Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	17
988	c	ANR027	Aneurysm, Intracranial Berry, 1	17
989		ZNC006	Zinc, Elevated Plasma	17
990	c	ORF031	Orofacial Cleft 14	17
991		RTN211	Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract	17
992	c	FML028	Familial Renal Oncocytoma	17
993	c	MGR033	Migraine with or Without Aura 6	17
994	c	THR023	Thrombophilia Due to Thrombomodulin Defect	16
995	c	ORF014	Orofacial Cleft 5	16
996	c	LFT020	Left Ventricular Noncompaction 7	16
997	c	ORF020	Orofacial Cleft 12	16
998		PRP095	Priapism, Familial Idiopathic	15
999	c	ORF025	Orofacial Cleft 6	15
1000	c	ORF023	Orofacial Cleft 4	15
1001	c	CLS053	Cluster Headache, Familial	15
1002	c	ACT229	Acute Necrotizing Encephalopathy Type 1	15
1003	c	HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	15
1004	c	ATR027	Atrial Fibrillation, Familial, 5	15
1005	c	ORF029	Orofacial Cleft 13	15
1006		FML315	Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia	14
1007	c	CLR083	Colorectal Cancer 8	14
1008	c	ORF016	Orofacial Cleft 8	14
1009	c	CLR082	Colorectal Cancer 7	14
1010	c	FML258	Familial Acute Necrotizing Encephalopathy	14
1011	c	ATR025	Atrial Fibrillation, Familial, 2	14
1012	c	ATS413	Autosomal Recessive Anterior Segment Dysgenesis	13
1013		IDP075	Idiopathic and/or Familial Pulmonary Arterial Hypertension	13
1014	c	LFT011	Left Ventricular Noncompaction 2	13
1015	c	ORF024	Orofacial Cleft 9	13
1016	c	FML275	Familial Hypoaldosteronism	13
1017	c	THR119	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	13
1018	c	ATR028	Atrial Fibrillation, Familial, 8	13
1019	P	HRD194	Hereditary Geniospasm	13
1020	c	FML196	Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland	13
1021	P	ALK019	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1	12
1022		ENT017	Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency	12
1023		ANH005	Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands	12
1024	c	CLR078	Colorectal Cancer 11	12
1025	c	CLR084	Colorectal Cancer 9	12
1026		FML202	Familial Alzheimer-Like Prion Disease	12
1027		ART142	Arteritis, Familial Granulomatous, with Juvenile Polyarthritis	11
1028	c	LCH017	Lichen Planus, Familial	11
1029	c	KRT070	Keratosis, Familial Actinic	11
1030	c	HYP452	Hypertension, Essential 6	11
1031		ATR090	Atrophia Maculosa Varioliformis Cutis, Familial	11
1032	c	PRM168	Primary Syringomyelia	11
1033	c	CHY007	Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase	11
1034	P	CHR636	Chorea, Benign Familial	11
1035		OPH017	Ophthalmoplegia, Familial Total, with Iris Transillumination	11
1036		FML079	Familial Nasal Acilia	11
1037		ADR055	Adrenocortical Unresponsiveness to Acth with Postreceptor Defect	11
1038	c	HYP450	Hypertension, Essential 4	11
1039	c	HYP449	Hypertension, Essential 3	11
1040	c	KMT002	Kmt2b-Related Dystonia	10
1041		DFN343	Deafness, Congenital, and Familial Myoclonic Epilepsy	10
1042	c	FML255	Familial Syringomyelia	10
1043		CHR631	Choreoathetosis, Familial Inverted	10
1044	c	HYP451	Hypertension, Essential 5	10
1045		ALZ052	Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology	10
1046		OPH016	Ophthalmoplegia, Familial Static	10
1047		EDM003	Edema, Familial Idiopathic, Prepubertal	10
1048	c	HYP448	Hypertension, Essential 2	10
1049	c	HYP447	Hypertension, Essential 1	10
1050	c	HYP454	Hypertension, Essential 8	10
1051		CLC061	Calcific Aortic Disease with Immunologic Abnormalities, Familial	10
1052	c	HYP453	Hypertension, Essential 7	10
1053		CRD227	Cardiac Lipidosis, Familial	10
1054		FML336	Familial Patent Arterial Duct	10
1055	c	PTL011	Patella, Familial Recurrent Dislocation of	10
1056	c	CRY033	Cryofibrinogenemia, Familial Primary	9
1057	c	FML025	Familial Glomangioma	9
1058	c	MRL006	Meralgia Paraesthetica, Familial	9
1059		HST021	Histiocytosis, Familial Lipochrome	9
1060	c	ART108	Aortic Aneurysm, Familial Abdominal, 4	9
1061	c	HYP799	Hypouricemia, Familial Renal, Due to Tubular Hypersecretion	9
1062		CNV019	Convulsive Disorder, Familial, with Prenatal or Early Onset	9
1063		CNC019	Cancer, Familial, with in Vitro Radioresistance	9
1064		ALP096	Alopecia, Familial Focal	9
1065	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	9
1066	c	JND003	Jaundice, Familial Obstructive, of Infancy	9
1067		ANT082	Antithrombin, Familial Hemorrhagic Diathesis Due to	9
1068		LGL002	Leg Ulcers, Familial, of Juvenile Onset	9
1069		SPR121	Superior Transverse Scapular Ligament, Calcification of, Familial	8
1070		LMB070	Lumbar Stenosis, Familial	8
1071	c	FML072	Familial Hypopituitarism	8
1072		MSC143	Muscle Cramps, Familial	8
1073		STT047	Setting-Sun Phenomenon, Familial Benign	8
1074		IDP082	Idiopathic Ventricular Fibrillation, Non Brugada Type	8
1075	c	MYC090	Myoclonus, Familial, 2	8
1076		NSL026	Nasal Hyperpigmentation, Familial Transverse	8
1077	c	CTC003	Catecholaminergic Polymorphic Ventricular Tachycardia 5	7
1078		MCR339	Macrocytosis, Familial	7
1079		STR098	Striae Distensae, Familial	7
1080		NSL025	Nasal Groove, Familial Transverse	7
1081	c	BNG034	Benign Secondary Hypertension	7
1082		AZT005	Azotemia, Familial	7
1083		BND019	Bundle Branch Block, Familial Isolated Complete Right	7
1084		CRM011	Cramps, Familial Adolescent	7
1085		MLN068	Melanoma, Malignant Familial Intraocular	7
1086		URT053	Urticaria, Familial Localized Heat	7
1087		FVR001	Fever, Familial Lifelong Persistent	7
1088		BRD052	Broad Terminal Phalanges, Familial	7
1089	c	APR002	Aip-Related Familial Isolated Pituitary Adenomas	7
1090		XLN202	X-Linked Acrogigantism Due to a Point Mutation	6
1091		CRY034	Cryptotia, Familial	6
1092		INS028	Insulin Receptors, Familial Increase in	6
1093		PCH021	Pachydermodactyly, Familial	6
1094	c	RRL001	Rare Lichen Planus	6
1095	c	ALK020	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2	6
1096		PNC125	Pancreatic Lymphoma, Familial	6
1097		BNG066	Benign Familial Mesial Temporal Lobe Epilepsy	6
1098		FML335	Familial Gastric Type 1 Neuroendocrine Tumor	5
1099	c	ALK022	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4	5
1100	c	ALK021	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3	5
1101		OST166	Osteoma of Cranial Vault, Familial	5
1102		BLN022	Blue Nevi, Familial Multiple	5
1103		FML194	Familial Clubfoot with or Without Associated Lower Limb Anomalies	5
1104	c	FML049	Familial Band Heterotopia	4
1105		FML216	Familial Isolated Clinodactyly of Fingers	4
1106	c	FML317	Familial Monosomy 7 Syndrome	4
1107		FML224	Familial Idiopathic Dilatation of the Right Atrium	4
1108		BRC118	Brachial Palsy, Familial Congenital	4
1109		LSS038	Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia	4
1110		FML051	Familial Capillaro-Venous Leptomeningeal Angiomatosis	4
1111		ADL092	Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome	3
1112		FML200	Familial Omphalocele Syndrome with Facial Dysmorphism	3
1113		FML349	Familial Creutzfeld-Jakob Disease	3
1114	c	FML226	Familial Dupuytren Contracture	3
1115	P	ADL097	Adult-Onset Familial Chylomicronemia Syndrome	3
1116		FML047	Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension	2
1117		FML074	Familial Interstitial Fibrosis	2
1118	P	PRS040	Prostate Cancer	93
1119	P	DBT026	Diabetes Mellitus, Noninsulin-Dependent	92
1120		MYL069	Myeloma, Multiple	85
1121		ESP021	Esophageal Cancer	84
1122	P	ATX030	Ataxia-Telangiectasia	83
1123		CYS001	Cystic Fibrosis	83
1124	c	LKM061	Leukemia, Acute Myeloid	83
1125		SQM013	Squamous Cell Carcinoma, Head and Neck	82
1126	P	FNC027	Fanconi Anemia, Complementation Group a	81
1127		NRL016	Neural Tube Defects	79
1128	P	RTN008	Retinitis Pigmentosa	79
1129		PFF001	Pfeiffer Syndrome	79
1130	P	NNN008	Noonan Syndrome 1	79
1131	P	PLM037	Pulmonary Hypertension	77
1132		KPS004	Kaposi Sarcoma	77
1133		PLY001	Polycythemia Vera	76
1134	P	SRC025	Sarcoidosis 1	76
1135		NRF026	Neurofibromatosis, Type Iv, of Riccardi	76
1136	P	HRT032	Heart Disease	76
1137	P	NRF023	Neurofibromatosis, Type Ii	76
1138		MRF001	Marfan Syndrome	76
1139	P	MLT020	Multiple Sclerosis	76
1140	P	INF038	Influenza	75
1141		APL001	Aplastic Anemia	75
1142		PHN003	Phenylketonuria	75
1143	P	HPT021	Hepatitis	74
1144	c	HMC039	Hemochromatosis, Type 1	74
1145	P	CRN018	Coronary Artery Anomaly	74
1146	c	LKM063	Leukemia, Chronic Myeloid	74
1147	P	DBT085	Diabetes Mellitus, Insulin-Dependent	73
1148	P	NRB001	Neuroblastoma	73
1149		IMM106	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked	73
1150	c	HPT073	Hepatitis C Virus	73
1151		ADR007	Adrenoleukodystrophy	72
1152	P	TRN020	Turner Syndrome	72
1153		VNH007	Von Hippel-Lindau Syndrome	72
1154		KWS002	Kawasaki Disease	72
1155	P	LYN001	Lynch Syndrome	72
1156	P	AGM001	Agammaglobulinemia	72
1157		FBR012	Fabry Disease	72
1158	P	ALG028	Alagille Syndrome 1	71
1159	P	SPR120	Supranuclear Palsy, Progressive, 1	71
1160	c	ATM006	Autoimmune Lymphoproliferative Syndrome	71
1161	P	DMN001	Diamond-Blackfan Anemia	71
1162		MYL009	Myelodysplastic Syndrome	71
1163	c	HPT016	Hepatitis B	70
1164		MYL005	Myelofibrosis	70
1165	P	LKM062	Leukemia, Acute Lymphoblastic	70
1166	P	FRG001	Fragile X Syndrome	70
1167	P	CHR012	Chronic Granulomatous Disease	70
1168	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	70
1169	P	TYS001	Tay-Sachs Disease	70
1170	P	JBR020	Joubert Syndrome 1	69
1171		BRK010	Burkitt Lymphoma	69
1172	c	PRM196	Premature Ovarian Failure 1	69
1173	P	TBR001	Tuberous Sclerosis	69
1174	c	HPT001	Hepatitis C	69
1175	P	CWD010	Cowden Syndrome	69
1176	P	ORT004	Orthostatic Intolerance	69
1177	c	HRD010	Hereditary Spastic Paraplegia	69
1178	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	69
1179		SMT004	Smith-Lemli-Opitz Syndrome	69
1180	P	PSD087	Pseudoxanthoma Elasticum	68
1181	P	ATS364	Autism	68
1182	P	MYL006	Myeloid Leukemia	68
1183	c	ATS007	Autism Spectrum Disorder	68
1184	P	DYS007	Dyskeratosis Congenita	67
1185	c	DNG003	Dengue Disease	67
1186	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
1187	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
1188		LWC002	Lowe Oculocerebrorenal Syndrome	67
1189	P	PSR002	Psoriasis	67
1190	c	ATM082	Autoimmune Lymphoproliferative Syndrome, Type V	67
1191	P	DBT009	Diabetes Mellitus	67
1192	P	ASP006	Aspergillosis	67
1193	P	KBK002	Kabuki Syndrome 1	67
1194	c	GLY008	Glycogen Storage Disease Ii	67
1195	c	MCP050	Mucopolysaccharidosis, Type Ii	67
1196		INC021	Incontinentia Pigmenti	67
1197	c	HPT003	Hepatitis a	66
1198	c	TBR026	Tuberous Sclerosis 2	66
1199	c	DPH024	Diaphragmatic Hernia, Congenital	66
1200	P	HYD006	Hydrocephalus	66
1201	P	GCH001	Gaucher's Disease	66
1202	P	KRB001	Krabbe Disease	66
1203	P	CCK001	Cockayne Syndrome	66
1204	c	ATM011	Autoimmune Hepatitis	66
1205	c	NNN010	Noonan Syndrome 3	66
1206	P	LNG028	Long Qt Syndrome	65
1207		MCC012	Mccune-Albright Syndrome	65
1208	P	HML033	Hemolytic Uremic Syndrome, Atypical 1	65
1209	P	ENC018	Encephalopathy	65
1210		CST001	Costello Syndrome	65
1211		CRB011	Cerebrotendinous Xanthomatosis	65
1212	c	CNG411	Congenital Disorder of Glycosylation, Type in	65
1213	P	THR005	Thrombotic Thrombocytopenic Purpura	65
1214	P	THL005	Thalassemia	65
1215		ALC028	Alacrima, Achalasia, and Mental Retardation Syndrome	65
1216	c	MCP049	Mucopolysaccharidosis, Type Vii	65
1217	c	GCH015	Gaucher Disease, Type I	65
1218		NRR002	Norrie Disease	65
1219	P	CRB048	Cerebral Cavernous Malformations	65
1220	P	BRD002	Bardet-Biedl Syndrome	65
1221	P	CRD224	Cardiofaciocutaneous Syndrome 1	65
1222		STH001	Saethre-Chotzen Syndrome	64
1223		TBC004	Tobacco Addiction	64
1224	P	LBR001	Leber Congenital Amaurosis	64
1225		WLL001	Williams-Beuren Syndrome	64
1226	P	GLL020	Gallbladder Disease	64
1227	P	SHW006	Shwachman-Diamond Syndrome 1	64
1228	P	MSC007	Muscle Hypertrophy	64
1229	P	DNG005	Dengue Virus	64
1230		TNG002	Tangier Disease	64
1231	P	CRD132	Cardiac Conduction Defect	64
1232	P	CRN015	Cornelia De Lange Syndrome	64
1233	P	HRM001	Hermansky-Pudlak Syndrome	64
1234	c	MCP001	Mucopolysaccharidosis Iii	63
1235	P	LYM033	Lymphoproliferative Syndrome	63
1236	P	ACR001	Aicardi-Goutieres Syndrome	63
1237	P	LPR021	Leprosy 3	63
1238	P	PLY014	Polycystic Kidney Disease	63
1239	c	ATS013	Autosomal Recessive Congenital Ichthyosis	63
1240	P	VNW001	Von Willebrand's Disease	63
1241		LSC001	Lesch-Nyhan Syndrome	63
1242	P	MCK013	Meckel Syndrome, Type 1	63
1243	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	63
1244	P	OST001	Osteopetrosis	63
1245		RFS006	Refsum Disease, Classic	63
1246	P	HYP055	Hypoplastic Left Heart Syndrome	62
1247	c	GLY060	Glycogen Storage Disease Ia	62
1248		DRR014	Darier-White Disease	62
1249	P	CTS001	Cutis Laxa	62
1250	P	CRN300	Coronary Heart Disease 1	62
1251	P	PTN014	Patent Ductus Arteriosus 1	62
1252	P	EHL001	Ehlers-Danlos Syndrome	62
1253	P	AXN002	Axenfeld-Rieger Syndrome	62
1254	c	GLY003	Glycogen Storage Disease Iii	62
1255		ALP103	Alpha-1-Antitrypsin Deficiency	62
1256	P	NRN021	Neuronal Ceroid Lipofuscinosis	62
1257	P	EPL140	Epilepsy, Idiopathic Generalized	62
1258	P	GLY013	Glycogen Storage Disease	62
1259	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
1260		KLP010	Klippel-Trenaunay-Weber Syndrome	61
1261		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	61
1262	P	MTR004	Maturity-Onset Diabetes of the Young	61
1263		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	61
1264	P	VNT002	Ventricular Septal Defect	61
1265		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	61
1266		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	61
1267	c	ATS347	Autosomal Dominant Polycystic Kidney Disease	61
1268	c	ERL029	Early-Onset, Autosomal Dominant Alzheimer Disease	60
1269		LYS012	Lysosomal Acid Lipase Deficiency	60
1270	P	WLF004	Wolfram Syndrome	60
1271	c	VRL010	Viral Hepatitis	60
1272	P	FCL005	Focal Segmental Glomerulosclerosis	60
1273	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
1274	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	60
1275		ARG002	Argininosuccinic Aciduria	60
1276	c	MCP004	Mucopolysaccharidosis Iv	60
1277	c	SPN294	Spinocerebellar Ataxia 1	60
1278	c	ALM001	Al Amyloidosis	60
1279	P	SPN301	Spinocerebellar Ataxia 2	60
1280		CFF002	Coffin-Lowry Syndrome	60
1281		HYP810	Hypereosinophilic Syndrome, Idiopathic	60
1282		NTH001	Netherton Syndrome	60
1283	P	OCL013	Oculodentodigital Dysplasia	59
1284	P	MCR010	Microcephaly	59
1285	P	DST002	Distal Arthrogryposis	59
1286	c	PRT132	Protoporphyria, Erythropoietic, 1	59
1287	c	PRX045	Peroxisome Biogenesis Disorder 1b	59
1288	P	CHL002	Childhood Absence Epilepsy	59
1289	P	NRC002	Narcolepsy	59
1290	c	NMN016	Niemann-Pick Disease, Type B	59
1291	c	CRP023	Carpenter Syndrome 1	59
1292	c	ESS001	Essential Tremor	59
1293	P	USH001	Usher Syndrome	59
1294	P	NPH012	Nephrotic Syndrome	59
1295		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	59
1296	c	GCH016	Gaucher Disease, Type Ii	59
1297		STR039	Sturge-Weber Syndrome	58
1298	P	OCL002	Oculocutaneous Albinism	58
1299	P	PRG013	Paraganglioma	58
1300		GRN051	Granulomatous Disease, Chronic, X-Linked	58
1301	P	STR022	Stargardt Disease	58
1302	c	MNN047	Mannosidosis, Alpha B, Lysosomal	58
1303		PRP082	Porphyria, Congenital Erythropoietic	58
1304	P	CTR002	Cataract	58
1305		ANN002	Anencephaly	58
1306	P	DRR001	Diarrhea	58
1307	P	HRD011	Hereditary Spherocytosis	58
1308	P	ANG015	Angioedema	58
1309	P	MLT007	Multiple Epiphyseal Dysplasia	58
1310		STS003	Sitosterolemia	58
1311		EXF001	Exfoliation Syndrome	58
1312	c	HRD002	Hereditary Angioedema	57
1313	P	ICH004	Ichthyosis	57
1314		LCR014	Lacrimoauriculodentodigital Syndrome	57
1315		PRP032	Porphyria Variegata	57
1316	P	WRD001	Waardenburg's Syndrome	57
1317	P	GRS003	Griscelli Syndrome	57
1318	c	ANG068	Angioedema, Hereditary, Type I	57
1319	c	GLY005	Glycogen Storage Disease Vi	57
1320	c	HYP795	Hypothyroidism, Congenital, Nongoitrous, 4	57
1321		CPR004	Coproporphyria, Hereditary	57
1322	P	CFF008	Coffin-Siris Syndrome 1	57
1323	P	HYP097	Hyperekplexia	57
1324		PRT082	Preterm Premature Rupture of the Membranes	57
1325		FCT003	Factor X Deficiency	56
1326	c	CRN139	Cornelia De Lange Syndrome 1	56
1327	P	STC001	Stickler Syndrome	56
1328	c	CNG216	Congenital Hydrocephalus	56
1329	P	ATR010	Atrial Heart Septal Defect	56
1330		CHN055	Chanarin-Dorfman Syndrome	56
1331		FCT001	Factor Viii Deficiency	56
1332	c	CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	56
1333		MTC146	Mitochondrial Complex I Deficiency, Nuclear Type 1	56
1334	P	PRM011	Primary Ciliary Dyskinesia	56
1335	P	ATR001	Atrioventricular Septal Defect	56
1336		ASP002	Aspartylglucosaminuria	56
1337		HYP276	Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant	56
1338	P	TRM003	Tremor	56
1339		ART002	Arts Syndrome	56
1340	P	HLL001	Hallermann-Streiff Syndrome	56
1341	c	HPT007	Hepatitis E	56
1342	P	CRN108	Cranioectodermal Dysplasia 1	56
1343	P	AGG001	Aggressive Periodontitis	56
1344		MTC097	Mitochondrial Complex Iv Deficiency	55
1345		HRL003	Hurler Syndrome	55
1346		GLB021	Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies	55
1347	c	ANM036	Anemia, Sideroblastic, 1	55
1348	P	CPL006	Capillary Hemangioma	55
1349	c	NNN012	Noonan Syndrome 5	55
1350	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	55
1351	P	SNR003	Senior-Loken Syndrome 1	55
1352		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	55
1353	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	55
1354	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
1355		OST024	Osteoporosis-Pseudoglioma Syndrome	55
1356	c	GLY004	Glycogen Storage Disease V	55
1357	c	LBR014	Leber Congenital Amaurosis 4	55
1358		GNR004	Generalized Anxiety Disorder	55
1359	c	GCH017	Gaucher Disease, Type Iii	55
1360	c	BRC051	Brachydactyly, Type B1	55
1361	P	SCK004	Seckel Syndrome	54
1362	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	54
1363	c	FNC042	Fanconi Anemia, Complementation Group D2	54
1364	P	NLD001	Nail Disease	54
1365	P	TWN003	Townes-Brocks Syndrome	54
1366	c	PSR017	Psoriasis 2	54
1367	c	WLF013	Wolfram Syndrome 1	54
1368	P	FNC043	Fanconi Anemia, Complementation Group E	54
1369		MLT135	Multiple Sulfatase Deficiency	54
1370	P	CNG010	Congenital Stationary Night Blindness	54
1371		ABL002	Ablepharon-Macrostomia Syndrome	54
1372	P	HYP726	Hypercalcemia, Infantile, 1	53
1373	c	SPN291	Spinocerebellar Ataxia 7	53
1374	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	53
1375	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
1376	P	CNT004	Centronuclear Myopathy	53
1377	P	THY054	Thyrotoxic Periodic Paralysis	53
1378	P	ART062	Arthrogryposis, Renal Dysfunction, and Cholestasis 1	53
1379	c	SCN036	Secondary Progressive Multiple Sclerosis	53
1380	c	WRD033	Waardenburg Syndrome, Type 2e	53
1381		RGH009	Right Atrial Isomerism	53
1382	c	PRD039	Periodontitis, Aggressive, 1	53
1383	c	GLY007	Glycogen Storage Disease Iv	52
1384	P	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	52
1385	P	MYM013	Moyamoya Disease 1	52
1386	c	LKM060	Leukemia, Acute Lymphoblastic 3	52
1387	c	THR045	Thrombotic Thrombocytopenic Purpura, Congenital	52
1388		GLC012	Galactosialidosis	52
1389	P	PRC019	Precocious Puberty	52
1390		RNP003	Renpenning Syndrome 1	52
1391	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
1392	P	FNC044	Fanconi Anemia, Complementation Group C	52
1393	c	CLR131	Ciliary Dyskinesia, Primary, 1	52
1394		CCH002	Coach Syndrome	52
1395	c	CNT075	Central Precocious Puberty	52
1396		BRT005	Barth Syndrome	52
1397	c	HPT015	Hepatitis D	52
1398		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	52
1399	c	PRM108	Primary Progressive Multiple Sclerosis	52
1400	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	52
1401	P	46X052	46,xx Sex Reversal 1	52
1402	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	52
1403	c	INV001	Invasive Aspergillosis	52
1404	c	GLY011	Glycogen Storage Disease Vii	52
1405	c	VNW008	Von Willebrand Disease, Type 3	52
1406	P	BRS053	Breast Fibroadenoma	51
1407	P	VSC013	Visceral Heterotaxy	51
1408	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	51
1409	c	NNN009	Noonan Syndrome 2	51
1410	P	APL006	Aplasia Cutis Congenita	51
1411	P	ALT001	Alternating Hemiplegia of Childhood	51
1412	c	NRC009	Narcolepsy 1	51
1413	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	51
1414	c	OST163	Osteopetrosis, Autosomal Recessive 3	51
1415	c	PRX059	Peroxisome Biogenesis Disorder 1a	51
1416	c	CCK008	Cockayne Syndrome a	51
1417	P	EPL116	Epileptic Encephalopathy, Childhood-Onset	51
1418		PLY112	Polyarteritis Nodosa, Childhood-Onset	51
1419		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	51
1420	c	HYP740	Hyperlipoproteinemia, Type V	51
1421		CTY001	Cat Eye Syndrome	51
1422	P	VNB005	Van Buchem Disease	51
1423	c	CCK007	Cockayne Syndrome B	51
1424	P	LPR002	Leopard Syndrome	50
1425	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
1426	P	CRN013	Craniodiaphyseal Dysplasia	50
1427	P	WLL002	Weill-Marchesani Syndrome	50
1428	c	GRN050	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	50
1429	P	SMP003	Simpson-Golabi-Behmel Syndrome	50
1430	P	NMN002	Niemann-Pick Disease	50
1431	P	KRT007	Keratoconus	50
1432	c	ACH041	Achondrogenesis, Type Ii	50
1433	P	BRC006	Brachydactyly	50
1434	c	FRS014	Fraser Syndrome 1	50
1435	c	SPN314	Spinocerebellar Ataxia 10	50
1436	c	DWL002	Dowling-Degos Disease 1	50
1437		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	50
1438	P	GNG025	Gingival Fibromatosis	50
1439	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	50
1440	P	NLX004	Neu-Laxova Syndrome 1	50
1441		DNN001	Danon Disease	50
1442	P	HYP087	Hypotrichosis	50
1443		ORT008	Orotic Aciduria	49
1444	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	49
1445		DRR008	Diarrhea 1, Secretory Chloride, Congenital	49
1446	c	SPN293	Spinocerebellar Ataxia 12	49
1447	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	49
1448		ENH001	Enhanced S-Cone Syndrome	49
1449		ALL001	Allan-Herndon-Dudley Syndrome	49
1450	c	GRS014	Griscelli Syndrome, Type 2	49
1451	P	PRX021	Proximal Symphalangism	49
1452	P	LSS002	Lissencephaly	49
1453	c	BRC109	Brachydactyly, Type E1	49
1454	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	49
1455	c	GM2006	Gm2 Gangliosidosis	49
1456		RVS001	Revesz Syndrome	49
1457	c	CRS016	Crisponi/cold-Induced Sweating Syndrome 1	49
1458	P	TYR004	Tyrosinemia	49
1459	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	49
1460		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	49
1461	P	MYT023	Myotonia Congenita	49
1462	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
1463	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	49
1464	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	49
1465	P	ERL057	Early Infantile Epileptic Encephalopathy	49
1466		FRB001	Farber Lipogranulomatosis	49
1467	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	49
1468		HYP741	Hyperparathyroidism 2 with Jaw Tumors	49
1469		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	48
1470		JHN001	Johanson-Blizzard Syndrome	48
1471	c	ACR116	Aicardi-Goutieres Syndrome 1	48
1472		ACR058	Acrofacial Dysostosis 1, Nager Type	48
1473	P	ANL018	Analbuminemia	48
1474	c	HNT004	Huntington Disease-Like 2	48
1475	P	NML001	Nemaline Myopathy	48
1476	P	EPS003	Episodic Ataxia	48
1477	P	PRK001	Porokeratosis	48
1478	P	NNT009	Neonatal Diabetes Mellitus	48
1479	c	NML002	Nemaline Myopathy 1	48
1480	c	OPT051	Opitz Gbbb Syndrome, Type I	48
1481	P	ANT088	Anterior Segment Dysgenesis	48
1482	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	48
1483		TRN022	Transcobalamin Ii Deficiency	48
1484	c	ALB019	Albinism, Oculocutaneous, Type Iv	47
1485	P	MTH007	Methemoglobinemia	47
1486	c	SPN296	Spinocerebellar Ataxia 17	47
1487	P	MNN019	Mannosidosis, Beta a, Lysosomal	47
1488	P	MYF003	Myofibrillar Myopathy	47
1489	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	47
1490		HRT031	Hartnup Disorder	47
1491	c	NPH055	Nephrotic Syndrome, Type 1	47
1492		ALV007	Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins	47
1493	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	47
1494	c	SPL067	Split-Hand/foot Malformation 1	47
1495	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	47
1496		ATS010	Autosomal Recessive Disease	47
1497	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	47
1498	c	WRD020	Waardenburg Syndrome, Type 4a	47
1499	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	47
1500		NRL018	Neural Tube Defects, Folate-Sensitive	47
1501		MCR165	Microphthalmia with Limb Anomalies	47
1502	P	FNG006	Feingold Syndrome 1	47
1503	c	USH035	Usher Syndrome Type 2	47
1504	c	BRD044	Bardet-Biedl Syndrome 17	47
1505	P	GNG009	Gangliosidosis	47
1506		LPP002	Lipoprotein Glomerulopathy	47
1507	P	RBN002	Robinow Syndrome	46
1508	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	46
1509	c	HMC009	Hemochromatosis Type 2	46
1510		KBG001	Kbg Syndrome	46
1511	P	KLP003	Klippel-Feil Syndrome	46
1512	c	CTS045	Cutis Laxa, Autosomal Dominant 1	46
1513	P	MLT072	Multiple Synostoses Syndrome	46
1514	c	USH021	Usher Syndrome, Type Iid	46
1515		MNC019	Monocarboxylate Transporter 1 Deficiency	46
1516	c	NML003	Nemaline Myopathy 2	46
1517	P	MCL001	Mucolipidosis	46
1518	c	LKD015	Leukodystrophy, Hypomyelinating, 3	46
1519	c	RTN172	Retinitis Pigmentosa 1	46
1520	c	RTN177	Retinitis Pigmentosa 73	46
1521	c	MYP072	Myopathy, Myofibrillar, 1	46
1522		SND002	Sneddon Syndrome	46
1523	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
1524	c	ALB015	Albinism, Oculocutaneous, Type V	46
1525	P	KLF001	Kleefstra Syndrome	46
1526	P	MSC022	Mosaic Variegated Aneuploidy Syndrome	46
1527		RST011	Restrictive Dermopathy, Lethal	45
1528	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	45
1529	c	SCK009	Seckel Syndrome 1	45
1530	P	CND005	Cone Dystrophy	45
1531	c	WRD019	Waardenburg Syndrome, Type 4b	45
1532	P	AML002	Amelogenesis Imperfecta	45
1533	c	ACH033	Achondrogenesis, Type Ia	45
1534		MRG013	Mirage Syndrome	45
1535	c	WRD031	Waardenburg Syndrome, Type 3	45
1536	P	GLL032	Galloway-Mowat Syndrome	45
1537		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	45
1538		MLB001	Mulibrey Nanism	45
1539	P	DWL001	Dowling-Degos Disease	45
1540		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	45
1541	c	BRD032	Bardet-Biedl Syndrome 14	45
1542		RBF001	Riboflavin Deficiency	45
1543	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
1544		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	45
1545	c	ACQ017	Acquired Von Willebrand Syndrome	45
1546	c	LTH008	Lethal Congenital Contracture Syndrome 2	45
1547	P	TRM004	Trimethylaminuria	45
1548	P	CHN044	Chondrodysplasia Punctata Syndrome	45
1549	c	ATS082	Autosomal Dominant Robinow Syndrome	45
1550	P	WHT013	White Sponge Nevus 1	45
1551	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	45
1552	c	3MT015	3-Methylglutaconic Aciduria, Type I	45
1553	P	ATS366	Autism X-Linked 2	45
1554	P	PRV002	Periventricular Nodular Heterotopia	45
1555		MWT001	Mowat-Wilson Syndrome	44
1556	c	ATR066	Atrial Septal Defect 2	44
1557		MHR001	Mohr-Tranebjaerg Syndrome	44
1558	c	FNC045	Fanconi Anemia, Complementation Group F	44
1559		HST017	Histiocytosis-Lymphadenopathy Plus Syndrome	44
1560	c	BRC060	Brachydactyly, Type E2	44
1561	c	TRN032	Transient Neonatal Diabetes Mellitus	44
1562	c	ACQ012	Acquired Angioedema	44
1563	c	NNN013	Noonan Syndrome 6	44
1564	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	44
1565	c	FNC032	Fanconi Anemia, Complementation Group B	44
1566	c	HYP543	Hypoplastic Left Heart Syndrome 1	44
1567	c	MCL066	Macular Dystrophy, Vitelliform, 2	44
1568		RST023	Resting Heart Rate, Variation in	44
1569	c	OPT050	Opitz Gbbb Syndrome, Type Ii	44
1570	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	44
1571	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	44
1572	c	RTN142	Retinitis Pigmentosa 38	44
1573	P	JVN024	Juvenile Hereditary Hemochromatosis	44
1574	c	TYR011	Tyrosinemia, Type Iii	44
1575	P	PRM001	Primary Cutaneous Amyloidosis	44
1576		ATS008	Autosomal Dominant Disease	43
1577	c	PSR028	Psoriasis 7	43
1578	c	PSR032	Psoriasis 11	43
1579	c	SPN103	Spinocerebellar Ataxia 31	43
1580	c	BRD020	Bardet-Biedl Syndrome 8	43
1581	c	NNN011	Noonan Syndrome 4	43
1582	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	43
1583		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	43
1584	c	3MT014	3-Methylglutaconic Aciduria, Type V	43
1585		PKL001	Poikiloderma with Neutropenia	43
1586	c	HYP507	Hypotrichosis 1	43
1587	P	SDR003	Sideroblastic Anemia	43
1588		PHS021	Phosphoglycerate Dehydrogenase Deficiency	43
1589		HYD058	Hydrops, Lactic Acidosis, and Sideroblastic Anemia	43
1590		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	43
1591		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	43
1592	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	43
1593	c	PRK082	Porokeratosis 1, Multiple Types	43
1594	P	PNT019	Pontocerebellar Hypoplasia	43
1595		ATN014	Autoinflammation with Arthritis and Dyskeratosis	43
1596	c	FNC058	Fanconi Anemia, Complementation Group R	43
1597	P	VTL001	Vitelliform Macular Dystrophy	43
1598		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	43
1599		ACD008	Acid-Labile Subunit Deficiency	43
1600	c	WRB002	Warburg Micro Syndrome 1	43
1601	c	SPN265	Spinocerebellar Ataxia 36	43
1602		HYP806	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	43
1603	c	PSR018	Psoriasis 13	42
1604	c	RTN160	Retinitis Pigmentosa 60	42
1605	P	CNG003	Congenital Dyserythropoietic Anemia	42
1606	P	SYN012	Synpolydactyly	42
1607	c	MCK012	Meckel Syndrome, Type 6	42
1608		MYP091	Myopathy, Congenital, with Fiber-Type Disproportion	42
1609	P	OCY003	Oocyte Maturation Defect 1	42
1610	c	SPN305	Spinocerebellar Ataxia 11	42
1611		NNK001	Nonaka Myopathy	42
1612	c	BRD033	Bardet-Biedl Syndrome 13	42
1613	P	OPT048	Opitz-Gbbb Syndrome	42
1614	c	PSR023	Psoriasis 1	42
1615	P	DYS005	Dyslexia	42
1616	c	FML015	Familial Nephrotic Syndrome	42
1617		ATR013	Atrichia with Papular Lesions	42
1618	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	42
1619	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	42
1620	c	AMY069	Amyotrophic Lateral Sclerosis 21	42
1621	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	42
1622	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	42
1623		GLC084	Glaucoma, Normal Tension	42
1624	c	SPH013	Spherocytosis, Type 1	42
1625	c	FNC023	Fanconi Anemia, Complementation Group N	42
1626	c	BRD048	Bardet-Biedl Syndrome 18	42
1627	P	CHR637	Choroidal Dystrophy, Central Areolar, 1	42
1628	c	RTS003	Ritscher-Schinzel Syndrome 1	42
1629		SPN331	Spondyloocular Syndrome	42
1630	c	PNT036	Pontocerebellar Hypoplasia, Type 6	42
1631		HYL004	Hyaline Fibromatosis Syndrome	42
1632	c	FNC057	Fanconi Anemia, Complementation Group U	42
1633	c	BRC052	Brachydactyly, Type B2	42
1634	P	JVN007	Juvenile Absence Epilepsy	41
1635		VSC016	Vasculopathy, Retinal, with Cerebral Leukodystrophy	41
1636	P	PST059	Pustular Psoriasis	41
1637	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	41
1638	c	FNC056	Fanconi Anemia, Complementation Group V	41
1639	c	PRC031	Preeclampsia/eclampsia 1	41
1640	c	MCR263	Microphthalmia, Syndromic 1	41
1641		NNC002	Nance-Horan Syndrome	41
1642	c	RTN043	Retinitis Pigmentosa 13	41
1643		MCR216	Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation	41
1644	c	JBR024	Joubert Syndrome 14	41
1645		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	41
1646	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	41
1647		FRG010	Fragile X Tremor/ataxia Syndrome	41
1648	c	SPN283	Spinocerebellar Ataxia 37	41
1649	P	DYS023	Dyschromatosis Universalis Hereditaria	41
1650	P	ACH011	Achondrogenesis	41
1651	c	CTR130	Cataract 9, Multiple Types	41
1652	c	ALB016	Albinism, Oculocutaneous, Type Vii	41
1653	c	FNC028	Fanconi Anemia, Complementation Group L	41
1654		MYH012	Myhre Syndrome	41
1655	c	MCL016	Mucolipidosis Iii Gamma	41
1656	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	41
1657	c	BRC062	Brachydactyly, Type D	41
1658	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	41
1659		NTR018	Neutrophilia, Hereditary	41
1660	c	HMC021	Hemochromatosis, Type 2a	41
1661	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	41
1662	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	41
1663	c	PRM212	Primary Microcephaly	41
1664	c	NML004	Nemaline Myopathy 3	41
1665		HYP110	Hyperproinsulinemia	41
1666		GNT031	Genitopatellar Syndrome	41
1667		FRG008	Fragile X-Associated Tremor/ataxia Syndrome	41
1668	c	FNC029	Fanconi Anemia, Complementation Group I	41
1669		ATM052	Autoimmune Disease 1	41
1670		ATX038	Ataxia and Polyneuropathy, Adult-Onset	41
1671		ALR002	Al-Raqad Syndrome	41
1672		CHR382	Chromosome 18q Deletion Syndrome	41
1673	P	MCR364	Macrodactyly	40
1674	c	HYD064	Hydrocephalus, Congenital, 1	40
1675	c	GLC083	Glaucoma 3, Primary Infantile, B	40
1676	c	SPL034	Split-Hand/foot Malformation 4	40
1677	c	GRS013	Griscelli Syndrome, Type 1	40
1678	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	40
1679	c	SPN330	Spondylocostal Dysostosis 5	40
1680		SNL007	Senile Cataract	40
1681	c	GLY098	Glycogen Storage Disease, Type Ixd	40
1682		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	40
1683	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	40
1684	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
1685	c	GLL038	Galloway-Mowat Syndrome 1	40
1686	P	HRD012	Hereditary Elliptocytosis	40
1687		RGD002	Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal	40
1688	c	RTN143	Retinitis Pigmentosa 47	40
1689	P	CHR084	Chromosomal Disease	40
1690	P	WLL010	Woolly Hair Syndrome	40
1691	c	HNT011	Huntington Disease-Like 3	40
1692	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	40
1693		SCR035	Sacral Agenesis with Vertebral Anomalies	40
1694	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	40
1695		LYM029	Lymphedema-Distichiasis Syndrome	40
1696	c	OTP007	Otopalatodigital Syndrome, Type Ii	40
1697		BRB006	Barber-Say Syndrome	40
1698	c	PRS136	Prostate Cancer, Hereditary, 6	40
1699	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	40
1700	P	MCR241	Microphthalmia, Syndromic 3	40
1701	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	40
1702	c	CTR098	Cataract 1, Multiple Types	40
1703	c	SCK015	Seckel Syndrome 2	40
1704	c	NNN024	Noonan Syndrome 9	40
1705	c	NNN021	Noonan Syndrome 8	40
1706	c	CRN243	Carney Complex, Type 1	40
1707		HRL004	Hurler-Scheie Syndrome	39
1708		PLY068	Polysubstance Abuse	39
1709		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	39
1710	c	SPN304	Spinocerebellar Ataxia 8	39
1711		MYP139	Myopathy, Proximal, and Ophthalmoplegia	39
1712	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	39
1713	c	LNG057	Long Qt Syndrome 13	39
1714	c	FNC046	Fanconi Anemia, Complementation Group P	39
1715	c	FNC025	Fanconi Anemia, Complementation Group J	39
1716	c	VNM003	Van Maldergem Syndrome 1	39
1717	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	39
1718		C1Q001	C1q Deficiency	39
1719		CHR386	Chromosome 6pter-P24 Deletion Syndrome	39
1720	c	VTL009	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	39
1721	c	BRD035	Bardet-Biedl Syndrome 15	39
1722		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	39
1723	c	PRM038	Primary Agammaglobulinemia	39
1724	c	CRB174	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	39
1725	c	AMY058	Amyotrophic Lateral Sclerosis 2, Juvenile	39
1726	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
1727	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	39
1728	P	ANX007	Anauxetic Dysplasia 1	39
1729	c	KNB006	Knobloch Syndrome 1	39
1730		CRD229	Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism	39
1731		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	39
1732	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	39
1733	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	39
1734	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	39
1735	P	GRN048	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative	39
1736	P	SPL061	Split Hand-Foot Malformation	39
1737		HTR014	Heterotaxy, Visceral, 1, X-Linked	39
1738		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	39
1739	c	SCP001	Sc Phocomelia Syndrome	39
1740	c	PNT010	Pontocerebellar Hypoplasia Type 1	39
1741	c	GLY023	Glycogen Storage Disease Type 0	39
1742	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	39
1743	c	JBR004	Joubert Syndrome 2	39
1744		CHR667	Chromosome 3pter-P25 Deletion Syndrome	39
1745	c	ACT004	Acute Diarrhea	39
1746	c	NML005	Nemaline Myopathy 4	38
1747	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	38
1748	P	PRT042	Parietal Foramina	38
1749		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	38
1750	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	38
1751	c	JBR015	Joubert Syndrome 6	38
1752		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	38
1753	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	38
1754		NTR007	Neutral Lipid Storage Disease with Myopathy	38
1755		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	38
1756		CRN285	Corneal Dystrophy, Fleck	38
1757		DBT007	Diabetic Cataract	38
1758	c	CRB176	Cerebral Amyloid Angiopathy, Itm2b-Related, 1	38
1759	c	NPH049	Nephrotic Syndrome, Type 2	38
1760	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	38
1761	P	UVS001	Uv-Sensitive Syndrome	38
1762	c	OST126	Osteopetrosis, Autosomal Recessive 1	38
1763		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	38
1764	c	CNR003	Cone-Rod Dystrophy 1	38
1765	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	38
1766		TRS021	Triosephosphate Isomerase Deficiency	38
1767	c	CTR115	Cataract 16, Multiple Types	38
1768		DPH019	Diaphanospondylodysostosis	38
1769	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	38
1770	c	USH039	Usher Syndrome, Type Ic	38
1771	c	MCR248	Microcephaly 3, Primary, Autosomal Recessive	38
1772	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	38
1773		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	38
1774	c	GLY044	Glycogen Storage Disease Ixc	38
1775		MNT309	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1	38
1776		CMP089	Complement Component 6 Deficiency	38
1777	c	WRB005	Warburg Micro Syndrome 4	37
1778	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
1779	c	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	37
1780		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	37
1781	c	PRK090	Parkinson Disease 3, Autosomal Dominant	37
1782	c	PRM032	Primary Congenital Glaucoma	37
1783	P	SPS008	Spastic Ataxia	37
1784	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
1785		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	37
1786	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	37
1787	c	LNG096	Long Qt Syndrome 15	37
1788	c	SPL070	Split-Hand/foot Malformation 2	37
1789	c	CNR023	Cone-Rod Dystrophy 8	37
1790	c	MTC010	Mitochondrial Dna Depletion Syndrome	37
1791	c	RTN136	Retinitis Pigmentosa 44	37
1792	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	37
1793	c	CNR017	Cone-Rod Dystrophy 9	37
1794	c	HMN027	Hemangioma, Capillary Infantile	37
1795	c	SPN247	Spinocerebellar Ataxia Type 19/22	37
1796	c	ATR031	Atrial Septal Defect 4	37
1797	P	CLC057	Cole-Carpenter Syndrome	37
1798		OHD005	Ohdo Syndrome, Sbbys Variant	37
1799	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	37
1800	c	LSS006	Lissencephaly 2	37
1801	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	37
1802	c	ZMM002	Zimmermann-Laband Syndrome 1	37
1803		LGN006	Legionnaire Disease	37
1804	c	ATS076	Autosomal Recessive Stickler Syndrome	37
1805	c	CNR016	Cone-Rod Dystrophy 7	37
1806	c	MCR124	Microphthalmia, Isolated 1	37
1807	c	WRD024	Waardenburg Syndrome, Type 4c	37
1808	c	AML020	Amelogenesis Imperfecta, Type Iv	37
1809	c	BSL038	Basal Ganglia Calcification, Idiopathic, 1	37
1810	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
1811	c	CTR170	Cataract 30, Multiple Types	37
1812	c	PRS130	Prostate Cancer, Hereditary, 8	37
1813	c	PLY162	Polyposis Syndrome, Hereditary Mixed, 1	37
1814	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	37
1815	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	36
1816	c	LKD008	Leukodystrophy, Hypomyelinating, 4	36
1817	c	SPN299	Spinocerebellar Ataxia 20	36
1818	c	SPH014	Spherocytosis, Type 2	36
1819	c	GLY016	Glycogen Storage Disease Ib	36
1820	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	36
1821	c	NPH070	Nephrotic Syndrome, Type 6	36
1822	c	MCK033	Meckel Syndrome, Type 4	36
1823		SLT014	Salt and Pepper Developmental Regression Syndrome	36
1824		HYP550	Hypomagnesemia 1, Intestinal	36
1825	c	EPS017	Episodic Ataxia, Type 6	36
1826		FNC030	Fanconi Anemia, Complementation Group G	36
1827		PRM087	Premature Chromatid Separation Trait	36
1828		CHR387	Chromosome Xp21 Deletion Syndrome	36
1829		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	36
1830	c	RTN048	Retinitis Pigmentosa 19	36
1831	c	HYP581	Hypotrichosis 6	36
1832	P	JVN008	Juvenile Glaucoma	36
1833		MND025	Mandibulofacial Dysostosis with Alopecia	36
1834	c	SPN094	Spinocerebellar Ataxia 18	36
1835	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	36
1836		GLY032	Glycosylphosphatidylinositol Deficiency	36
1837	c	SPH015	Spherocytosis, Type 3	36
1838	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	36
1839	P	GLP001	Geleophysic Dysplasia	36
1840		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	36
1841	c	USH041	Usher Syndrome, Type if	36
1842	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	36
1843	c	RTN066	Retinitis Pigmentosa 4	36
1844	c	SPL024	Split-Hand/foot Malformation 3	36
1845	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	36
1846	c	NNN025	Noonan Syndrome 10	36
1847	c	MCK030	Meckel Syndrome, Type 7	36
1848	c	USH042	Usher Syndrome, Type Ig	36
1849		GPS001	Gapo Syndrome	36
1850	c	RTN044	Retinitis Pigmentosa 14	36
1851	c	SPL033	Split-Hand/foot Malformation 6	36
1852		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	36
1853		OVR093	Overhydrated Hereditary Stomatocytosis	36
1854	c	CRB094	Cerebral Cavernous Malformations 3	36
1855	c	RTN131	Retinitis Pigmentosa 27	36
1856	c	BRD045	Bardet-Biedl Syndrome 19	36
1857	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	36
1858		CRD220	Cardiac Valvular Defect, Developmental	36
1859		CHR501	Chromosome 17q12 Deletion Syndrome	36
1860	c	NRC010	Narcolepsy 2	36
1861	c	GRN049	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	36
1862	c	FNC048	Fanconi Anemia, Complementation Group O	36
1863		SYN089	Syndromic X-Linked Intellectual Disability Snyder Type	36
1864	P	DXT004	Dextro-Looped Transposition of the Great Arteries	36
1865	c	BRT038	Baraitser-Winter Syndrome 1	36
1866	c	RTN090	Retinitis Pigmentosa 55	36
1867		PRM056	Primrose Syndrome	35
1868	P	ANT061	Antenatal Bartter Syndrome	35
1869	P	BRN042	Branchiootic Syndrome	35
1870	P	SPC019	Specific Language Impairment	35
1871	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	35
1872		SNG007	Sengers Syndrome	35
1873	c	FNC062	Fanconi Anemia, Complementation Group S	35
1874	c	MCK014	Meckel Syndrome, Type 5	35
1875		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	35
1876	c	MCP051	Mucopolysaccharidosis, Type Ix	35
1877		EPP011	Epiphyseal Chondrodysplasia, Miura Type	35
1878	c	ATM083	Autoimmune Lymphoproliferative Syndrome, Type Iii	35
1879	P	CLS054	Classic Ehlers-Danlos Syndrome	35
1880		PTT045	Pituitary Hormone Deficiency, Combined, 1	35
1881	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	35
1882	c	LBR007	Leber Congenital Amaurosis 12	35
1883	c	NPH054	Nephrotic Syndrome, Type 3	35
1884	c	RTN047	Retinitis Pigmentosa 18	35
1885	c	LNG056	Long Qt Syndrome 12	35
1886		EPT021	Epithelial Recurrent Erosion Dystrophy	35
1887		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	35
1888	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	35
1889	c	NML006	Nemaline Myopathy 5	35
1890	c	HYP559	Hypotrichosis 8	35
1891	c	HYP355	Hypothyroidism, Congenital, Nongoitrous, 3	35
1892	c	WLF009	Wolfram Syndrome 2	35
1893	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
1894	c	TRC078	Trichohepatoenteric Syndrome 2	35
1895	P	ENC056	Encephalopathy, Acute, Infection-Induced 4	35
1896		TRM011	Terminal Osseous Dysplasia	35
1897		OGD001	Ogden Syndrome	35
1898	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	35
1899		CMP040	Complement Component 4, Partial Deficiency of	35
1900	c	SVR040	Severe Congenital Nemaline Myopathy	35
1901	c	GRN038	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii	34
1902	c	RTN054	Retinitis Pigmentosa 25	34
1903	P	PRR025	Perrault Syndrome	34
1904		ACR043	Acromicric Dysplasia	34
1905		CRB081	Cerebellar Ataxia, Cayman Type	34
1906	c	RTN186	Retinitis Pigmentosa 75	34
1907	P	BRT040	Baraitser-Winter Syndrome	34
1908	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	34
1909	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	34
1910	c	NNN020	Noonan Syndrome 7	34
1911		FLT009	Folate Malabsorption, Hereditary	34
1912	c	LBR011	Leber Congenital Amaurosis 16	34
1913	c	PRM031	Primary Autosomal Recessive Microcephaly	34
1914	c	WRB003	Warburg Micro Syndrome 2	34
1915	c	SPH016	Spherocytosis, Type 4	34
1916	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	34
1917		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	34
1918	c	OVR075	Ovarian Dysgenesis 1	34
1919		INF159	Infantile Sialic Acid Storage Disease	34
1920	c	DYS067	Dystonia 6, Torsion	34
1921	c	ICH023	Ichthyosis, Acquired	34
1922		GLS018	Glass Syndrome	34
1923		CRN212	Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome	34
1924	c	RTN055	Retinitis Pigmentosa 26	34
1925	c	RTN149	Retinitis Pigmentosa 42	34
1926	P	AST055	Asthma-Related Traits 1	34
1927	P	BST001	Bestrophinopathy	34
1928		BSL037	Basal Laminar Drusen	34
1929	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	34
1930	c	BRD047	Bardet-Biedl Syndrome 16	34
1931	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	34
1932	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	34
1933		CHR377	Chromosome 10q26 Deletion Syndrome	34
1934		ANT042	Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis	34
1935	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	33
1936	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	33
1937	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	33
1938	c	ORT011	Orthostatic Hypotension 1	33
1939	c	CTR141	Cataract 21, Multiple Types	33
1940	c	FNC052	Fanconi Anemia, Complementation Group T	33
1941	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	33
1942	c	MYT027	Myotonia Congenita, Autosomal Dominant	33
1943	c	GLP003	Geleophysic Dysplasia 1	33
1944		KLL014	Kelley-Seegmiller Syndrome	33
1945	c	RTN165	Retinitis Pigmentosa 68	33
1946	c	THY084	Thyrotoxic Periodic Paralysis 1	33
1947	c	WRD010	Waardenburg Syndrome Type 4	33
1948	c	KLF004	Kleefstra Syndrome 1	33
1949	c	LBR005	Leber Congenital Amaurosis 10	33
1950	c	SPL025	Split-Hand/foot Malformation 5	33
1951	c	CTR118	Cataract 14, Multiple Types	33
1952	c	MYP079	Myopathy, Myofibrillar, 5	33
1953		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	33
1954		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	33
1955	P	3MT007	3-Methylglutaconic Aciduria	33
1956	c	CTR122	Cataract 5, Multiple Types	33
1957	c	RTN062	Retinitis Pigmentosa 33	33
1958	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	33
1959	P	ATR022	Atrial Septal Defect 3	33
1960		GBT001	Gaba-Transaminase Deficiency	33
1961	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	33
1962	c	DMN021	Diamond-Blackfan Anemia 6	33
1963		WDH003	Woodhouse-Sakati Syndrome	33
1964	P	HNN005	Hennekam Lymphangiectasia-Lymphedema Syndrome 1	33
1965	P	MYS032	Myosin Storage Myopathy	33
1966		MTC029	Mitochondrial Complex V Deficiency, Nuclear Type 1	33
1967	c	CNG379	Congenital Disorder of Glycosylation, Type It	33
1968	c	RTN059	Retinitis Pigmentosa 30	33
1969		HSD004	Hsd10 Mitochondrial Disease	33
1970	P	WRB001	Warburg Micro Syndrome	33
1971		OLV004	Oliver-Mcfarlane Syndrome	33
1972	c	FNC047	Fanconi Anemia, Complementation Group Q	33
1973	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	33
1974	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
1975	c	RTN051	Retinitis Pigmentosa 22	33
1976	c	PRR020	Perrault Syndrome 1	33
1977		CLR133	Colorblindness, Partial, Protan Series	33
1978	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	33
1979	c	RTN042	Retinitis Pigmentosa 12	32
1980	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	32
1981	c	CNG195	Congenital Disorder of Glycosylation, Type Id	32
1982		CRT045	Creatine Phosphokinase, Elevated Serum	32
1983	c	BRW009	Brown-Vialetto-Van Laere Syndrome 1	32
1984	c	THR044	Thrombotic Thrombocytopenic Purpura, Acquired	32
1985	c	SPN105	Spinocerebellar Ataxia 4	32
1986		BRC004	Brachydactyly-Syndactyly Syndrome	32
1987	c	MCR329	Microcephaly, Autosomal Dominant	32
1988	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	32
1989	c	RTN133	Retinitis Pigmentosa 43	32
1990	c	RTN056	Retinitis Pigmentosa 28	32
1991	P	CLC008	Colchicine Resistance	32
1992	c	SPN095	Spinocerebellar Ataxia 19	32
1993	c	CTR103	Cataract 4, Multiple Types	32
1994	c	EPL133	Epilepsy, Juvenile Absence 1	32
1995	c	SPN383	Spinocerebellar Ataxia 42	32
1996	c	SYN084	Synpolydactyly 1	32
1997	c	CTR145	Cataract 44	32
1998		NGL001	Naegeli-Franceschetti-Jadassohn Syndrome	32
1999	P	OTF004	Otofaciocervical Syndrome 1	32
2000	c	PNT037	Pontocerebellar Hypoplasia, Type 3	32
2001	P	KNB001	Knobloch Syndrome	32
2002	c	HRD146	Hereditary Methemoglobinemia	32
2003		AST052	Asthma, Nasal Polyps, and Aspirin Intolerance	32
2004	c	JBR041	Joubert Syndrome 3	32
2005		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	32
2006	c	GLP004	Geleophysic Dysplasia 2	32
2007	P	MTP005	Metaphyseal Anadysplasia	32
2008	c	RTN050	Retinitis Pigmentosa 20	32
2009	P	BRW001	Brown-Vialetto-Van Laere Syndrome	32
2010	c	ORT012	Orthostatic Hypotension 2	32
2011	c	WLL036	Weill-Marchesani Syndrome 1	32
2012		PHS022	Phosphoserine Phosphatase Deficiency	32
2013	c	RTN067	Retinitis Pigmentosa 41	32
2014	c	NNS043	Nonsyndromic Retinitis Pigmentosa	32
2015	c	HMC034	Hemochromatosis, Type 5	32
2016	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	32
2017	P	RTS001	Ritscher-Schinzel Syndrome	31
2018	c	RTN129	Retinitis Pigmentosa 49	31
2019	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	31
2020	c	AMY088	Amyotrophic Lateral Sclerosis 3	31
2021	c	OST134	Osteopetrosis, Autosomal Recessive 6	31
2022	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	31
2023	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	31
2024	c	SPH017	Spherocytosis, Type 5	31
2025	c	CNR013	Cone-Rod Dystrophy 12	31
2026		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	31
2027		CMB020	Combined Saposin Deficiency	31
2028	c	HYP562	Hypothyroidism, Congenital, Nongoitrous, 6	31
2029	P	CRN249	Cornea Plana	31
2030	c	RTN134	Retinitis Pigmentosa 40	31
2031	c	MCK034	Meckel Syndrome, Type 8	31
2032		SDR009	Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay	31
2033	c	CTR095	Cataract 8, Multiple Types	31
2034	c	RTN046	Retinitis Pigmentosa 17	31
2035	c	ATR062	Atrial Septal Defect 1	31
2036	c	RTN068	Retinitis Pigmentosa 6	31
2037	c	FML250	Familial Progressive Cardiac Conduction Defect	31
2038	c	CTR158	Cataract 37	31
2039		SRC015	Sarcosinemia	31
2040	c	EPS037	Episodic Ataxia, Type 4	31
2041		MYP120	Myopathy, Distal, with Rimmed Vacuoles	31
2042	c	HYP515	Hypotrichosis 3	31
2043	c	INT274	Intermediate Congenital Nemaline Myopathy	31
2044		DSR012	Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency	31
2045		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	31
2046	c	CND011	Cone Dystrophy 3	31
2047	c	JBR025	Joubert Syndrome 17	31
2048	c	RTN064	Retinitis Pigmentosa 35	31
2049	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	31
2050	c	RTN116	Retinitis Pigmentosa 56	31
2051	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	31
2052	c	CCK002	Cockayne Syndrome Type I	31
2053	P	HYP700	Hypomyelinating Leukodystrophy	31
2054	c	AML057	Amelogenesis Imperfecta, Type Iiia	31
2055		ARL004	Aural Atresia, Congenital	31
2056	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	31
2057		HYP540	Hypertension, Diastolic	31
2058	c	AMY023	Amyotrophic Lateral Sclerosis Type 6	31
2059	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	31
2060	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	31
2061	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	31
2062	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	31
2063		MYC071	Myoclonic-Atonic Epilepsy	31
2064	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	31
2065	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
2066	c	LBR013	Leber Congenital Amaurosis 3	30
2067	P	MCR122	Microphthalmia, Isolated 5	30
2068	c	RTN169	Retinitis Pigmentosa 70	30
2069	c	SCK011	Seckel Syndrome 5	30
2070	P	FNC026	Fanconi Renotubular Syndrome 1	30
2071		CHT006	Chitayat Syndrome	30
2072	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	30
2073	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	30
2074		CRY019	Cryohydrocytosis	30
2075	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	30
2076		RBS005	Ribose 5-Phosphate Isomerase Deficiency	30
2077	c	JVN015	Juvenile Huntington Disease	30
2078		PRT130	Protein Z Deficiency	30
2079		GLL035	Gillessen-Kaesbach-Nishimura Syndrome	30
2080	c	RTN114	Retinitis Pigmentosa 58	30
2081	P	BRN076	Bronchiectasis with or Without Elevated Sweat Chloride 1	30
2082	c	MYP080	Myopathy, Myofibrillar, 4	30
2083	c	CRN109	Cranioectodermal Dysplasia 2	30
2084	c	BST008	Bestrophinopathy, Autosomal Recessive	30
2085	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	30
2086	c	JBR022	Joubert Syndrome 20	30
2087		DRR017	Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies	30
2088	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
2089	c	ACQ027	Acquired Cutis Laxa	30
2090		HYP823	Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome	30
2091	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	30
2092		PKL002	Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis	30
2093	c	WLL037	Weill-Marchesani Syndrome 2	30
2094	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	30
2095	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	30
2096		ALZ030	Alazami Syndrome	30
2097		ALG027	Al-Gazali-Bakalinova Syndrome	30
2098	c	THY083	Thyrotoxic Periodic Paralysis 2	30
2099	P	HRD144	Hereditary Mixed Polyposis Syndrome	30
2100		PHS014	Phosphoglycerate Kinase 1 Deficiency	30
2101	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
2102		BMB001	Bombay Phenotype	30
2103	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	30
2104	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	30
2105	c	EPS015	Episodic Ataxia, Type 7	30
2106		MCR183	Microcephaly-Capillary Malformation Syndrome	30
2107	c	CTR132	Cataract 3, Multiple Types	30
2108	c	SCK010	Seckel Syndrome 4	30
2109	c	CNG223	Congenital Methemoglobinemia	30
2110	c	RTN171	Retinitis Pigmentosa 59	30
2111	c	RTN210	Retinitis Pigmentosa 50	30
2112	c	ACR081	Aicardi-Goutieres Syndrome 6	30
2113	c	RTN152	Retinitis Pigmentosa 66	30
2114	c	CTR125	Cataract 7	30
2115	c	CCK003	Cockayne Syndrome Type Ii	30
2116	c	PRX060	Peroxisome Biogenesis Disorder 5a	30
2117	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
2118		TKN001	Takenouchi-Kosaki Syndrome	30
2119	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	30
2120		IMM002	Immature Cataract	30
2121	P	TRG016	Trigonocephaly 1	30
2122	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	30
2123		PRP093	Pierpont Syndrome	30
2124	c	JBR012	Joubert Syndrome 5	29
2125	P	VNM004	Van Maldergem Syndrome	29
2126	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	29
2127		GLT005	Glutamate Formiminotransferase Deficiency	29
2128	P	DMN043	Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis	29
2129	c	LSS010	Lissencephaly 4	29
2130	c	DYS139	Dyschromatosis Universalis Hereditaria 3	29
2131	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
2132	c	STS007	Sotos Syndrome 2	29
2133	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
2134	c	NPH072	Nephrotic Syndrome, Type 7	29
2135	c	NGH010	Night Blindness, Congenital Stationary, Autosomal Dominant 2	29
2136	P	INV008	Invasive Pneumococcal Disease, Recurrent Isolated, 1	29
2137		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	29
2138		HST022	Histiocytoma, Angiomatoid Fibrous	29
2139	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	29
2140		HRD073	Hereditary Myopathy with Early Respiratory Failure	29
2141	P	SCH077	Schwannomatosis 1	29
2142	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
2143	c	APL023	Aplasia Cutis Congenita, Nonsyndromic	29
2144	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	29
2145	c	TRM024	Tremor, Hereditary Essential, 1	29
2146	c	USH031	Usher Syndrome, Type Ij	29
2147	c	RBN008	Rubinstein-Taybi Syndrome 2	29
2148	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	29
2149		VND005	Van Den Ende-Gupta Syndrome	29
2150	P	DSB002	Desbuquois Dysplasia	29
2151		GLT028	Glutaric Aciduria Iii	29
2152		HYP267	Hyperchlorhidrosis, Isolated	29
2153	c	HRM020	Hermansky-Pudlak Syndrome 10	29
2154		SVN002	Sveinsson Chorioretinal Atrophy	29
2155	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	29
2156	c	ANR046	Aniridia 3	29
2157	c	CFF007	Coffin-Siris Syndrome 2	29
2158	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	29
2159	c	ART112	Arthrogryposis, Distal, Type 10	29
2160	P	SPS225	Spastic Paralysis, Infantile-Onset Ascending	29
2161		PYR021	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	29
2162	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	29
2163	P	LTH003	Lethal Congenital Contracture Syndrome	29
2164	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
2165		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	29
2166	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
2167		WTT002	Witteveen-Kolk Syndrome	29
2168	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	29
2169	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	29
2170	c	DSB005	Desbuquois Dysplasia 2	29
2171		MCR096	Macrocephaly/autism Syndrome	29
2172	c	GLY097	Glycogen Storage Disease Ixb	29
2173	c	SYM022	Symphalangism, Proximal, 1a	29
2174	c	PRX056	Peroxisome Biogenesis Disorder 11b	29
2175	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	29
2176	c	RTN057	Retinitis Pigmentosa 29	29
2177	c	USH030	Usher Syndrome, Type Ik	29
2178	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
2179	c	GLY017	Glycogen Storage Disease Ic	29
2180	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	29
2181	c	HYP525	Hypotrichosis 2	29
2182	P	ATX039	Ataxia-Pancytopenia Syndrome	29
2183	c	GLY009	Glycogen Storage Disease Xv	29
2184	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	28
2185		PLY110	Polymicrogyria, Bilateral Temporooccipital	28
2186	c	AMY094	Amyotrophic Lateral Sclerosis 5, Juvenile	28
2187		ACR004	Acrokeratosis Verruciformis	28
2188	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	28
2189	c	CTR175	Cataract 24	28
2190	c	HYP577	Hypotrichosis 13	28
2191	c	TYP035	Type 1 Diabetes Mellitus 11	28
2192		DRR013	Diarrhea 8, Secretory Sodium, Congenital	28
2193	c	RTN053	Retinitis Pigmentosa 24	28
2194	c	ERL012	Early-Onset Glaucoma	28
2195	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	28
2196	P	PRD037	Periodontal Ehlers-Danlos Syndrome	28
2197		FLP001	Filippi Syndrome	28
2198		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	28
2199	c	AML017	Amelogenesis Imperfecta, Type Ib	28
2200	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	28
2201	c	PNT046	Pontocerebellar Hypoplasia, Type 5	28
2202	c	NGH029	Night Blindness, Congenital Stationary, Type 1e	28
2203	c	ACQ047	Acquired Methemoglobinemia	28
2204		LRY022	Laryngoonychocutaneous Syndrome	28
2205		STR099	Striatonigral Degeneration, Infantile, Mitochondrial	28
2206		MYP071	Myopathy Due to Myoadenylate Deaminase Deficiency	28
2207	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	28
2208	c	ANR047	Aniridia 2	28
2209	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	28
2210		CHT005	Chitotriosidase Deficiency	28
2211	c	INF041	Infantile-Onset Ascending Hereditary Spastic Paralysis	28
2212	c	PRS080	Prostate Cancer, Hereditary, 7	28
2213	P	ZMM001	Zimmermann-Laband Syndrome	28
2214	c	ERY062	Erythrokeratodermia Variabilis Et Progressiva 5	28
2215		STL007	Steel Syndrome	28
2216	c	GLY043	Glycogen Storage Disease Xii	28
2217	c	BRT039	Baraitser-Winter Syndrome 2	28
2218	c	RTN106	Retinitis Pigmentosa 51	28
2219	c	NNS018	Nonsyndromic Paraganglioma	28
2220	c	CTR121	Cataract 25	28
2221	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	28
2222	c	ATS307	Autosomal Recessive Cerebellar Ataxia	28
2223	c	GLY057	Glycogen Storage Disease X	28
2224	c	ART104	Arthrogryposis, Distal, Type 5d	28
2225	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	28
2226		SPC026	Specific Granule Deficiency 1	28
2227	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	28
2228	c	CRN133	Coronary Artery Disease, Autosomal Dominant, 1	28
2229	c	AGM013	Agammaglobulinemia 1, Autosomal Recessive	28
2230	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	28
2231		BLR030	Bilirubin, Serum Level of, Quantitative Trait Locus 1	28
2232	c	PRX048	Peroxisome Biogenesis Disorder 10a	28
2233	c	PRX054	Peroxisome Biogenesis Disorder 12a	28
2234		TTT001	Tatton-Brown-Rahman Syndrome	28
2235	P	TRC031	Trichorhinophalangeal Syndrome	28
2236	P	BCT020	Bacteremia 2	28
2237	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
2238		CHR399	Chromosome 4q21 Deletion Syndrome	28
2239		MYP097	Myopathy with Lactic Acidosis, Hereditary	28
2240	c	MCR245	Microphthalmia, Syndromic 8	28
2241	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
2242		ALZ029	Alzheimer Disease Mitochondrial	28
2243	c	SPN098	Spinocerebellar Ataxia 25	27
2244	c	PRS097	Prostate Cancer, Hereditary, 1	27
2245		SCH037	Schinzel-Giedion Midface Retraction Syndrome	27
2246	c	PRG020	Paragangliomas 3	27
2247	c	LBR015	Leber Congenital Amaurosis 5	27
2248	c	FML272	Familial Sick Sinus Syndrome	27
2249	c	LPR022	Leprosy 2	27
2250		HYP682	Hypertelorism, Teebi Type	27
2251	c	INC029	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1	27
2252		LSC003	Luscan-Lumish Syndrome	27
2253	c	WSK002	Wiskott-Aldrich Syndrome 2	27
2254	c	FRN033	Frontonasal Dysplasia 2	27
2255	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	27
2256	c	DBT054	Diabetes Mellitus, Insulin-Dependent, 24	27
2257	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	27
2258	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	27
2259	c	MYP105	Myopathy, Myosin Storage, Autosomal Dominant	27
2260	c	TRG015	Trigonocephaly 2	27
2261	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	27
2262	c	CTR174	Cataract 40	27
2263		ANH003	Anhaptoglobinemia	27
2264		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	27
2265		CRB147	Cerebellofaciodental Syndrome	27
2266	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	27
2267	c	RTN140	Retinitis Pigmentosa 67	27
2268	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	27
2269	c	CLR091	Ciliary Dyskinesia, Primary, 14	27
2270	c	INF122	Infantile Krabbe Disease	27
2271	c	TYP037	Type 1 Diabetes Mellitus 13	27
2272	c	LBR009	Leber Congenital Amaurosis 14	27
2273	c	AMY089	Amyotrophic Lateral Sclerosis 7	27
2274	P	STR092	Striatal Degeneration, Autosomal Dominant 2	27
2275	c	RTN146	Retinitis Pigmentosa 62	27
2276		MST021	Meester-Loeys Syndrome	27
2277	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	27
2278		ELS006	Elsahy-Waters Syndrome	27
2279	c	JBR014	Joubert Syndrome 9	27
2280	c	PRX051	Peroxisome Biogenesis Disorder 6a	27
2281		JVN012	Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome	27
2282	c	LNG098	Long Qt Syndrome 14	27
2283	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	27
2284	c	PRS031	Prostate Carcinoma in Situ	27
2285	c	CRP022	Carpenter Syndrome 2	27
2286	c	PSD107	Pseudo-Torch Syndrome 2	27
2287		PRT094	Protoporphyria, Erythropoietic, X-Linked	27
2288	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
2289	c	INF002	Inflammatory Diarrhea	27
2290	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	27
2291	c	ANG045	Angioedema, Hereditary, Type Iii	27
2292	c	46X049	46,xy Sex Reversal 2	26
2293		CMB017	Combined Oxidative Phosphorylation Deficiency 6	26
2294	c	MCL078	Macular Degeneration, Age-Related, 14	26
2295	c	46X048	46,xx Sex Reversal 2	26
2296		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	26
2297	c	CRS017	Crisponi/cold-Induced Sweating Syndrome 2	26
2298	c	MCR352	Microphthalmia, Isolated, with Coloboma 6	26
2299	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	26
2300	c	GLY006	Glycogen Storage Disease Viii	26
2301	c	RTN052	Retinitis Pigmentosa 23	26
2302		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	26
2303		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	26
2304	c	AMY055	Amyotrophic Lateral Sclerosis 17	26
2305	c	PNT039	Pontocerebellar Hypoplasia, Type 7	26
2306	c	PLM127	Pulmonary Hypertension, Primary, 3	26
2307	c	OTF003	Otofaciocervical Syndrome 2	26
2308	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	26
2309	P	OVR076	Ovarian Dysgenesis 2	26
2310	c	TYP033	Type 1 Diabetes Mellitus 7	26
2311	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
2312	c	SPS091	Spastic Paraplegia 4	26
2313		LKN008	Leukoencephalopathy, Cystic, Without Megalencephaly	26
2314	c	PRR026	Perrault Syndrome 5	26
2315	c	SPN372	Spinocerebellar Ataxia 43	26
2316	c	BRC099	Brachydactyly, Type A4	26
2317		DGT002	Digital Clubbing, Isolated Congenital	26
2318		GBR007	Gabriele-De Vries Syndrome	26
2319	c	KLP008	Klippel-Feil Syndrome 2, Autosomal Recessive	26
2320	c	DMN017	Diamond-Blackfan Anemia 10	26
2321	c	JBR026	Joubert Syndrome 15	26
2322	c	BRN128	Branchiootic Syndrome 3	26
2323		HYP808	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration	26
2324	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	26
2325		HMX003	Heme Oxygenase 1 Deficiency	26
2326		CLR132	Colorblindness, Partial, Deutan Series	26
2327		CNZ006	Coenzyme Q10 Deficiency, Primary, 1	26
2328	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	26
2329		MYS057	Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency	26
2330	c	RTN176	Retinitis Pigmentosa 71	26
2331	c	OST120	Osteopetrosis, Autosomal Recessive 5	26
2332		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	26
2333	P	ADP010	Adiponectin, Serum Level of, Quantitative Trait Locus 1	26
2334	c	ALB017	Albinism, Oculocutaneous, Type Vi	26
2335	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
2336	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
2337	c	AMY074	Amyotrophic Lateral Sclerosis Type 14	26
2338	c	MYP148	Myopathy, Centronuclear, 5	26
2339	c	GLL040	Galloway-Mowat Syndrome 3	26
2340	c	PRT060	Parietal Foramina 2	26
2341	c	PRM089	Premature Ovarian Failure 3	26
2342	c	BRD050	Bardet-Biedl Syndrome 21	26
2343	c	THR069	Three M Syndrome 2	26
2344	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
2345	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	26
2346	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	26
2347	c	CCK004	Cockayne Syndrome Type Iii	26
2348	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
2349	c	KBK003	Kabuki Syndrome 2	26
2350	P	PRM227	Primary Orthostatic Hypotension	26
2351		DMT001	Dimethylglycine Dehydrogenase Deficiency	26
2352		MRG001	Morgagni Cataract	26
2353		3MT008	3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	26
2354	c	CRN110	Cranioectodermal Dysplasia 3	26
2355	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	26
2356	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
2357	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	25
2358	c	CRT085	Carotid Intimal Medial Thickness 2	25
2359	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	25
2360	c	PRX050	Peroxisome Biogenesis Disorder 9b	25
2361		MTC030	Mitochondrial Complex V Deficiency, Nuclear Type 3	25
2362	c	RTN060	Retinitis Pigmentosa 31	25
2363	c	NPH047	Nephrotic Syndrome, Type 4	25
2364	c	PNT050	Pontocerebellar Hypoplasia, Type 11	25
2365	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	25
2366		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	25
2367	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	25
2368		PRT131	Partial Trisomy Distal 4q	25
2369	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	25
2370	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	25
2371	c	CRN120	Corneal Dystrophy, Fuchs Endothelial, 3	25
2372	c	PLM121	Pulmonary Hypertension, Primary, 4	25
2373	c	FBR050	Fibrosis of Extraocular Muscles, Congenital, 2	25
2374	c	JBR031	Joubert Syndrome 21	25
2375	c	ICH044	Ichthyosis, Congenital, Autosomal Recessive 8	25
2376	c	LYM151	Lymphoproliferative Syndrome 3	25
2377		STC017	Stickler Syndrome, Type I, Nonsyndromic Ocular	25
2378	c	GLL027	Gallbladder Disease 4	25
2379		CMP087	Complement Component 7 Deficiency	25
2380	c	NPH102	Nephrotic Syndrome, Type 14	25
2381	c	ATS210	Autosomal Recessive Sideroblastic Anemia	25
2382	c	PRX046	Peroxisome Biogenesis Disorder 7a	25
2383	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	25
2384	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
2385	c	PRX091	Peroxisome Biogenesis Disorder 8a	25
2386	c	JBR016	Joubert Syndrome 10	25
2387