Genetic Diseases Category (7175 diseases)

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

#	Family	MCID	Name	MIFTS
1	c	CHL132	Cholestasis, Progressive Familial Intrahepatic, 1	52
2	P	ERY058	Erythrocytosis, Familial, 1	55
3	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	50
4		AMY082	Amyloidosis, Familial Visceral	46
5		FML026	Familial Lipoprotein Lipase Deficiency	46
6	P	FML018	Familial Mediterranean Fever	73
7		FML089	Familial Thoracic Aortic Aneurysm and Dissection	50
8	P	MLT048	Multiple Familial Trichoepithelioma	30
9	P	FML011	Familial Adenomatous Polyposis	71
10	P	AMY004	Amyloidosis	68
11	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	57
12	P	SZR006	Seizure Disorder	56
13	c	AMY009	Amyloidosis Aa	53
14	c	SZR007	Seizures, Benign Familial Infantile, 3	46
15	c	PRM150	Primary Localized Amyloidosis	19
16	c	AHM002	Ah Amyloidosis	15
17	c	SCN009	Scn1a-Related Seizure Disorders	8
18	c	PRG126	Progressive Familial Heart Block	47
19	P	HRT035	Heart Block, Congenital	46
20	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	43
21	P	HYP607	Hypercholesterolemia, Familial	79
22	P	CND004	Candidiasis	60
23	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	59
24	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	48
25	P	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	46
26	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	31
27	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	31
28	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	27
29	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	26
30	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	24
31	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	23
32	c	CND037	Candidiasis, Familial, 6	18
33		HYP190	Hypoalphalipoproteinemia, Primary	58
34	c	SZR014	Seizures, Benign Familial Infantile, 1	24
35	c	PRG042	Progressive Familial Heart Block, Type Ia	58
36	c	CHL137	Cholestasis, Progressive Familial Intrahepatic, 3	47
37	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	38
38		BNG006	Benign Familial Neonatal Epilepsy	36
39	P	PLY018	Polycythemia	58
40	c	PRM012	Primary Polycythemia	52
41	c	ACQ010	Acquired Polycythemia	39
42		HYP547	Hypogonadotropic Hypogonadism 12 with or Without Anosmia	23
43	c	ATS209	Autosomal Dominant Secondary Polycythemia	16
44	c	PLY005	Polycythemia Due to Hypoxia	6
45	c	LPD015	Lipodystrophy, Familial Partial, Type 2	59
46	P	PRT078	Partial Lipodystrophy	46
47	c	LPD019	Lipodystrophy, Partial, Acquired	43
48	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	38
49	P	BNG026	Benign Neonatal Seizures	37
50		FTL002	Fatal Familial Insomnia	49
51	P	FML052	Familial Cold Autoinflammatory Syndrome	53
52	c	MYC068	Myoclonic Epilepsy of Infancy	38
53	P	FML186	Familial Paroxysmal Nonkinesigenic Dyskinesia	33
54	P	EPS030	Episodic Kinesigenic Dyskinesia 1	33
55	P	EPL198	Epilepsy, Myoclonic Juvenile	28
56	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	24
57	c	EPL154	Epilepsy, Progressive Myoclonic, 9	24
58	c	EPL210	Epilepsy, Progressive Myoclonic, 6	24
59	c	EPL155	Epilepsy, Progressive Myoclonic, 8	24
60	c	EPL134	Epilepsy, Progressive Myoclonic 7	23
61	c	EPS013	Episodic Kinesigenic Dyskinesia 2	23
62	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	23
63	c	EPL188	Epilepsy, Progressive Myoclonic, 10	23
64	c	PRX024	Paroxysmal Nonkinesigenic Dyskinesia 2	19
65	c	MYC086	Myoclonic Epilepsy, Juvenile 4	17
66	c	EPL186	Epilepsy, Juvenile Myoclonic 9	17
67	c	PRG133	Progressive Myoclonic Epilepsy Type 5	14
68	c	MYC085	Myoclonic Epilepsy, Juvenile 3	14
69	c	EPL217	Epilepsy, Juvenile Myoclonic 10	14
70	c	EPL009	Epilepsy Progressive Myoclonic Type 3	8
71	c	HMP022	Hemophagocytic Lymphohistiocytosis, Familial, 1	50
72	P	ATT003	Attenuated Familial Adenomatous Polyposis	45
73	c	HYP768	Hyperlipoproteinemia, Type I	36
74	c	CND034	Candidiasis, Familial, 2	29
75		FML157	Familial Male-Limited Precocious Puberty	28
76	c	HYP819	Hyperlipoproteinemia, Type Id	19
77	c	CHL136	Cholestasis, Progressive Familial Intrahepatic, 2	43
78	P	EPL196	Epilepsy, Familial Focal, with Variable Foci 1	33
79		MTR030	Mitral Valve Prolapse, Familial, X-Linked	18
80		RGH011	Right Pulmonary Artery, Anomalous Origin of, Familial	14
81	c	HYP731	Hyperaldosteronism, Familial, Type I	56
82	P	PTT006	Pituitary Adenoma	52
83	c	PTT056	Pituitary Adenoma 1, Multiple Types	44
84	c	PRG043	Progressive Familial Heart Block, Type Ib	41
85	c	PTT060	Pituitary Adenoma 5, Multiple Types	16
86	c	PTT061	Pituitary Adenoma 3, Multiple Types	14
87	c	FML346	Familial Adenomatous Polyposis 1	62
88		PRD013	Periodic Fever, Familial, Autosomal Dominant	59
89	P	HYP724	Hyperlipoproteinemia, Type Iii	58
90	c	ALZ056	Alzheimer Disease 3	47
91		CNV018	Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis	34
92	c	ALZ062	Alzheimer Disease 19	28
93	c	ALZ015	Alzheimer Disease 6	23
94	c	ALZ045	Alzheimer Disease 9	21
95	c	CHL143	Cholestasis, Progressive Familial Intrahepatic, 4	21
96	c	ALZ060	Alzheimer Disease 14	19
97	c	ALZ059	Alzheimer Disease 13	17
98	c	ALZ032	Alzheimer Disease 18	17
99	c	ALZ061	Alzheimer Disease 15	16
100	c	ALZ031	Alzheimer Disease 17	15
101	c	ALZ014	Alzheimer Disease 16	15
102	c	FML116	Familial Cold Autoinflammatory Syndrome 1	57
103	c	FML012	Familial Partial Lipodystrophy	52
104	c	FML023	Familial Hemiplegic Migraine	51
105	P	HMP006	Hemiplegic Migraine	48
106		LRY047	Laryngeal Abductor Paralysis	23
107		CNV009	Convulsions Benign Familial Neonatal Dominant Form	17
108	P	HYP069	Hyperparathyroidism	58
109	c	HYP311	Hyperparathyroidism 3	40
110	c	PRG101	Progressive Familial Heart Block, Type Ii	23
111	c	HYP720	Hyperparathyroidism 4	16
112	P	FML156	Familial Hyperaldosteronism	35
113	c	LPD021	Lipodystrophy, Familial Partial, Type 3	35
114		CYL004	Cylindromatosis, Familial	31
115	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	25
116	P	NTR004	Neutropenia	60
117	c	SVR003	Severe Congenital Neutropenia	58
118		EWN002	Ewing's Family of Tumors	56
119	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	36
120	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	31
121	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	31
122	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	29
123	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	21
124	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	21
125	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	20
126		TMP005	Temporal Epilepsy, Familial	18
127	c	NTR045	Neutropenia, Chronic Familial	18
128	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	17
129		GNV002	Genu Valgum, St. Helena Familial	13
130	c	ELN001	Elane-Related Neutropenia	7
131		PRC038	Precocious Puberty, Male-Limited	42
132	c	MGR032	Migraine, Familial Hemiplegic, 1	37
133		FML063	Familial Glucocorticoid Deficiency	34
134		BKS003	Beukes Hip Dysplasia	30
135	c	LPD040	Lipodystrophy, Familial Partial, Type 1	27
136	c	LPD034	Lipodystrophy, Familial Partial, Type 4	25
137		HYP766	Hyperbilirubinemia, Transient Familial Neonatal	20
138	c	SZR023	Seizures, Benign Familial Neonatal, 2	20
139	P	EPL164	Epilepsy	69
140	P	ATR011	Atrial Fibrillation	68
141	c	FML001	Familial Atrial Fibrillation	54
142	P	PRN026	Porencephaly	49
143	c	BNG023	Benign Familial Infantile Epilepsy	42
144	c	HYP243	Hyperparathyroidism 1	41
145	P	FML043	Familial Idiopathic Basal Ganglia Calcification	41
146	c	FML084	Familial Porencephaly	36
147	c	ART028	Aortic Aneurysm, Familial Thoracic 4	27
148	c	CND036	Candidiasis, Familial, 4	25
149	c	BSL035	Basal Ganglia Calcification, Idiopathic, 5	22
150		ACN018	Acne Inversa, Familial, 1	22
151	c	BSL039	Basal Ganglia Calcification, Idiopathic, 6	21
152	c	PRN047	Porencephaly 2	19
153	c	BSL032	Basal Ganglia Calcification, Idiopathic, 4	18
154	c	BSL031	Basal Ganglia Calcification, Idiopathic, 2	14
155	c	ACQ029	Acquired Porencephaly	13
156	c	DPD002	Depdc5-Related Epilepsy	5
157	P	ADV001	Advanced Sleep Phase Syndrome	36
158		IMM153	Immunodeficiency 51	20
159		MCR031	Macrocephaly, Benign Familial	15
160	P	HYP818	Hypobetalipoproteinemia, Familial, 1	54
161		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	34
162		HYP744	Hyperpigmentation with or Without Hypopigmentation, Familial Progressive	24
163	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	21
164	c	HYP290	Hypobetalipoproteinemia, Familial, 2	20
165	c	SZR016	Seizures, Benign Familial Infantile, 2	20
166	P	HRD200	Hereditary Breast Ovarian Cancer Syndrome	58
167	c	HYP734	Hypercholesterolemia, Autosomal Dominant, Type B	43
168	c	HYP600	Hyperaldosteronism, Familial, Type Ii	34
169		DYS182	Dysphasia, Familial Developmental	30
170	P	FML168	Familial Isolated Pituitary Adenoma	27
171	c	LPD030	Lipodystrophy, Familial Partial, Type 5	24
172	c	BRS088	Breast-Ovarian Cancer, Familial 3	21
173	c	BRS098	Breast-Ovarian Cancer, Familial 4	17
174		FML155	Familial Acute Myeloid Leukemia with Mutated Cebpa	13
175		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	55
176	P	TRT019	Torticollis	46
177		CPL013	Capillary Malformations, Congenital	39
178	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	35
179	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	34
180	c	MTR080	Mitral Valve Prolapse 1	31
181	c	HYP804	Hyperlipidemia, Combined, 1	31
182	c	BNG079	Benign Adult Familial Myoclonic Epilepsy	30
183	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	28
184	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	27
185	c	CNG129	Congenital Torticollis	22
186	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	22
187	c	MTR083	Mitral Valve Prolapse 3	20
188		THM023	Thiemann Disease	20
189		CPP001	Copper Deficiency, Familial Benign	18
190	c	MTR077	Mitral Valve Prolapse 2	18
191		CRN069	Corneal Hypesthesia, Familial	16
192		MYL018	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	13
193		OSS006	Ossicular Malformations, Familial	11
194		FML279	Familial Isolated Arrhythmogenic Right Ventricular Dysplasia	9
195	c	TRT007	Torticollis, Familial	7
196	P	HYP599	Hypoparathyroidism, Familial Isolated	37
197	c	MGR030	Migraine, Familial Hemiplegic, 2	32
198		EXD009	Exudative Vitreoretinopathy 2, X-Linked	31
199	c	SZR022	Seizures, Benign Familial Neonatal, 1	31
200	c	HYP438	Hyperaldosteronism, Familial, Type Iii	29
201	c	LPD036	Lipodystrophy, Familial Partial, Type 6	25
202		ACN030	Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease	20
203	P	PLR004	Pleuropulmonary Blastoma	59
204	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	59
205	P	HYP614	Hyperlipidemia, Familial Combined	56
206	c	VNT034	Ventricular Fibrillation, Paroxysmal Familial, 1	56
207	P	HYP050	Hyperinsulinemic Hypoglycemia	54
208		VTM028	Vitamin E, Familial Isolated Deficiency of	52
209		HRD031	Hereditary Paraganglioma-Pheochromocytoma Syndromes	47
210	c	BRS110	Breast-Ovarian Cancer, Familial 1	37
211	c	MYC083	Myoclonic Epilepsy, Familial Infantile	30
212	c	PRX088	Paroxysmal Nonkinesigenic Dyskinesia 1	29
213	c	FML334	Familial Candidiasis	24
214	c	BRS111	Breast-Ovarian Cancer, Familial 2	19
215	c	PLR018	Pleuropulmonary Blastoma Type 1	10
216	c	PLR019	Pleuropulmonary Blastoma Type 2	8
217	c	PLR020	Pleuropulmonary Blastoma Type 3	8
218	P	ART067	Aortic Aneurysm, Familial Thoracic 1	66
219	P	EXD001	Exudative Vitreoretinopathy	50
220	P	PSD003	Pseudohypoaldosteronism	47
221	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	46
222	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	44
223	P	AMY084	Amyloidosis, Finnish Type	43
224	c	PSD092	Pseudohypoaldosteronism, Type Iie	36
225	c	FML117	Familial Cold Autoinflammatory Syndrome 2	34
226		EPL128	Epilepsy, Familial Temporal Lobe, 3	31
227		VNT032	Ventricular Tachycardia, Familial	26
228	c	EXD004	Exudative Vitreoretinopathy 4	23
229	c	EXD006	Exudative Vitreoretinopathy 5	19
230	c	EXD010	Exudative Vitreoretinopathy 6	19
231	c	PSD068	Pseudohypoaldosteronism, Type Iic	18
232	c	EXD007	Exudative Vitreoretinopathy 3	18
233	c	PSD094	Pseudohypoaldosteronism, Type Iib	18
234	c	EXD012	Exudative Vitreoretinopathy 7	17
235		IMM172	Immunodeficiency 34	17
236	c	TRN053	Transient Pseudohypoaldosteronism	16
237		DWR023	Dwarfism, Familial, with Muscle Spasms	15
238	c	HRD010	Hereditary Spastic Paraplegia	67
239	c	ART138	Aortic Aneurysm, Familial Abdominal, 1	64
240	c	MNN043	Meningioma, Familial	60
241	P	FBR031	Febrile Seizures	53
242	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	51
243	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	49
244	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	44
245	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
246	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	40
247	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	39
248	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	39
249	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
250	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	37
251	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
252	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	37
253	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	37
254	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	37
255	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	37
256	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	37
257	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	37
258	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
259	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	36
260	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	36
261	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	35
262	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
263	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	34
264	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	34
265	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	34
266	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
267	P	BNG002	Benign Meningioma	34
268	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	33
269	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	33
270	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	33
271	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
272	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	33
273	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	33
274	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	33
275	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
276	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	32
277	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
278	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	32
279	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	31
280	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
281	c	SPS031	Spastic Paraplegia 23	31
282	P	SPS012	Spastic Paraplegia 3a	30
283	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	30
284	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	29
285	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	28
286	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
287	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	28
288	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
289	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
290	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	27
291	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
292	c	HRD186	Hereditary Spastic Paraplegia 51	27
293	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	26
294	c	SPS021	Spastic Paraplegia 10	26
295	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	26
296	c	SPS092	Spastic Paraplegia 11	26
297	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	26
298	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
299	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
300	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	26
301	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	25
302	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	25
303	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	25
304	c	SPS039	Spastic Paraplegia 5a	25
305	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	25
306	c	SPS036	Spastic Paraplegia 3	23
307	c	SPS025	Spastic Paraplegia 15	23
308	c	FBR072	Febrile Seizures, Familial, 11	23
309	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	23
310	c	CND025	Candidiasis, Familial, 8	22
311	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	22
312	c	TRC095	Trichoepithelioma, Multiple Familial, 1	21
313	c	SPS013	Spastic Paraplegia 8	20
314	c	SPS020	Spastic Paraplegia 1	20
315		ACN016	Acne Inversa, Familial, 3	19
316	c	HRD188	Hereditary Spastic Paraplegia 72	19
317	c	SPS042	Spastic Paraplegia 9	19
318	c	SPS037	Spastic Paraplegia 31	19
319	c	SPS034	Spastic Paraplegia 26	18
320	c	SPS027	Spastic Paraplegia 17	18
321	c	SPS028	Spastic Paraplegia 18	17
322	c	SPS023	Spastic Paraplegia 13	17
323	c	SZR020	Seizures, Benign Familial Infantile, 5	17
324	c	SPS080	Spastic Paraplegia 51	16
325	c	SPS032	Spastic Paraplegia 24	15
326	c	SPS033	Spastic Paraplegia 25	15
327	c	SPS035	Spastic Paraplegia 29	15
328	c	SPS022	Spastic Paraplegia 12	15
329	c	SPS026	Spastic Paraplegia 16	14
330	c	SPS161	Spastic Paraplegia 32	14
331	c	SPS038	Spastic Paraplegia 39	14
332	c	SPS029	Spastic Paraplegia 19	14
333	c	SPS024	Spastic Paraplegia 14	12
334	c	SPS040	Spastic Paraplegia 5b	11
335	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	11
336	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	11
337	c	ATS186	Autosomal Recessive Spastic Paraplegia Type 68	11
338	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	11
339	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	11
340	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	11
341	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	11
342	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	11
343	P	HYP040	Hypospadias	59
344	P	PTY003	Pityriasis Rubra Pilaris	50
345	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	48
346		EPL115	Epilepsy, Familial Temporal Lobe, 2	34
347	P	GLM015	Glomerulopathy with Fibronectin Deposits 2	30
348		MTC107	Mitochondrial Complex I Deficiency Due to Acad9 Deficiency	28
349		ARR027	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	22
350	c	FML347	Familial Adenomatous Polyposis 2	22
351	c	CRD176	Cardiomyopathy, Familial Restrictive, 1	21
352	c	ART105	Aortic Aneurysm, Familial Thoracic 7	19
353		ANR042	Aniridia - Ptosis - Intellectual Disability - Familial Obesity	16
354	c	CRD098	Cardiomyopathy, Familial Restrictive, 3	16
355	c	FML348	Familial Pityriasis Rubra Pilaris	13
356	c	PST093	Posterior Hypospadias	12
357	c	HYP545	Hypospadias 3, Autosomal	11
358	c	PRM005	Primary Hyperparathyroidism	59
359	P	SCK002	Sick Sinus Syndrome	53
360	c	MYS051	Myasthenic Syndrome, Congenital, 5	47
361	P	PLM025	Pulmonary Venoocclusive Disease	43
362	P	OPT070	Optic Nerve Hypoplasia, Bilateral	43
363	c	MYS078	Myasthenic Syndrome, Congenital, 14	40
364		MYS061	Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency	39
365	c	MYS052	Myasthenic Syndrome, Congenital, 10	37
366	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	35
367		FML307	Familial Calcium Pyrophosphate Deposition	33
368	c	PLM170	Pulmonary Venoocclusive Disease 1, Autosomal Dominant	33
369	c	MYS075	Myasthenic Syndrome, Congenital, 13	32
370	c	CRB051	Cerebral Cavernous Malformation, Familial	29
371		MYX012	Myxoma, Intracardiac	29
372		FML213	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form	26
373	c	PLM167	Pulmonary Venoocclusive Disease 2, Autosomal Recessive	25
374	c	MYS067	Myasthenic Syndrome, Congenital, 22	24
375	c	MYS076	Myasthenic Syndrome, Congenital, 8	23
376	c	CSH006	Cushing Syndrome Due to Macronodular Adrenal Hyperplasia	23
377	c	MYS074	Myasthenic Syndrome, Congenital, 12	23
378	c	SCK017	Sick Sinus Syndrome 1	22
379	c	MYS056	Myasthenic Syndrome, Congenital, 17	22
380	c	MYS064	Myasthenic Syndrome, Congenital, 16	22
381	P	HYD015	Hydroa Vacciniforme	22
382	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	21
383	c	MYS070	Myasthenic Syndrome, Congenital, 19	21
384		IMM099	Immunodeficiency 33	21
385	c	MYS065	Myasthenic Syndrome, Congenital, 18	21
386	c	MYS077	Myasthenic Syndrome, Congenital, 15	19
387	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	19
388		OST150	Osteodysplasia, Familial, Anderson Type	17
389	c	SCK022	Sick Sinus Syndrome 3	17
390		SHL003	Shoulder Girdle Defect Mental Retardation Familial	14
391	c	FML309	Familial Infantile Bilateral Striatal Necrosis	13
392	c	HYD016	Hydroa Vacciniforme, Familial	10
393		FML254	Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion	9
394	c	SPR070	Sporadic Infantile Bilateral Striatal Necrosis	8
395		UMB003	Umbilicus, Familial Flat	8
396	P	CSH002	Cushing Syndrome, Familial	7
397	c	OPT030	Optic Nerve Hypoplasia, Familial Bilateral	7
398	c	HMR010	Hemeralopia, Congenital Essential	4
399	P	HMR011	Hemeralopia, Familial	3
400	c	EXD008	Exudative Vitreoretinopathy 1	69
401	c	LPM012	Lipomatosis, Multiple	58
402	P	LPM005	Lipomatosis	50
403	c	ERY048	Erythrocytosis, Familial, 2	47
404		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	46
405		FML036	Familial Periodic Paralysis	41
406		DSM003	Desmoid Disease, Hereditary	39
407	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	38
408	c	CHR630	Chorea, Benign Hereditary	34
409	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	33
410	c	GNR039	Generalized Epilepsy with Febrile Seizures Plus, Type 2	29
411	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	22
412	c	FML339	Familial Adenomatous Polyposis 4	21
413	c	GNR041	Generalized Epilepsy with Febrile Seizures Plus, Type 3	21
414		ESN023	Eosinophilia, Familial	20
415	c	EPS039	Episodic Pain Syndrome, Familial, 1	20
416		EPL150	Epilepsy, Familial Temporal Lobe, 7	19
417	c	GNR034	Generalized Epilepsy with Febrile Seizures Plus, Type 9	19
418	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	16
419	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	13
420	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	13
421	c	ALZ049	Alzheimer Disease 2	59
422		STT041	Stuttering	53
423	c	BSL038	Basal Ganglia Calcification, Idiopathic, 1	45
424	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	42
425		ARR045	Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	38
426		EPL114	Epilepsy, Familial Temporal Lobe, 1	38
427	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	37
428	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	35
429	c	ART071	Aortic Aneurysm, Familial Thoracic 6	32
430		INT304	Interstitial Pneumonitis, Desquamative, Familial	31
431		CHR525	Chromosome Xq26.3 Duplication Syndrome	31
432	P	PRD017	Periodic Paralyses	29
433	P	FML313	Familial Progressive Hyperpigmentation	28
434		DCR009	Dicer1-Related Disorders	22
435		GZP003	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1	22
436	c	CND033	Candidiasis, Familial, 1	21
437		ARR041	Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	19
438	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	19
439		EPL081	Epilepsy, Familial Temporal Lobe, 5	18
440	c	FBR069	Febrile Seizures, Familial, 4	18
441	c	ANT041	Antiphospholipid Syndrome, Familial	18
442	P	FML048	Familial Avascular Necrosis of the Femoral Head	17
443		DSC014	Discoid Fibromas, Familial Multiple	17
444	c	TRC094	Trichoepithelioma, Multiple Familial, 2	17
445	c	VNT012	Ventricular Fibrillation, Paroxysmal Familial, 2	16
446		EPL152	Epilepsy, Familial Temporal Lobe, 8	16
447	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	15
448	P	XNC004	X Inactivation, Familial Skewed, 1	14
449	c	FML159	Familial Periodic Paralyses	13
450		MLT051	Multiple Fibrofolliculoma Familial	6
451	P	HLP001	Holoprosencephaly	66
452	P	HYP802	Hypocalcemia, Autosomal Dominant 1	62
453	c	HYP739	Hyperlipoproteinemia, Type Iv	50
454	c	HRD039	Hereditary Amyloidosis	48
455	P	FML035	Familial Hyperlipidemia	47
456		LYS019	Loeys-Dietz Syndrome 1	45
457	c	HLP023	Holoprosencephaly 1	44
458	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	42
459	c	HLP026	Holoprosencephaly 3	39
460	c	HLP024	Holoprosencephaly 2	39
461	c	HLP029	Holoprosencephaly 4	38
462	c	ALZ050	Alzheimer Disease 5	37
463		LYS018	Loeys-Dietz Syndrome 2	35
464	c	HYP396	Hypercholesterolemia, Autosomal Recessive	33
465	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	32
466	c	HLP028	Holoprosencephaly 5	32
467	c	HLP027	Holoprosencephaly 7	30
468	P	HYP733	Hypercalciuria, Absorptive, 2	30
469		ASP026	Asplenia, Isolated Congenital	30
470		FML206	Familial Cerebral Saccular Aneurysm	26
471	c	HLP025	Holoprosencephaly 9	25
472	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	24
473	P	INT260	Intracranial Berry Aneurysm	24
474	c	HLP016	Holoprosencephaly 11	24
475	c	SCK014	Sick Sinus Syndrome 2	23
476		FML211	Familial Papillary or Follicular Thyroid Carcinoma	22
477	c	HLP022	Holoprosencephaly 8	21
478	c	HYP564	Hypocalcemia, Autosomal Dominant 2	19
479		LNT008	Lentiginosis, Inherited Patterned	18
480	c	CND027	Candidiasis, Familial, 3	16
481	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	16
482		GGN006	Gigantiform Cementoma, Familial	14
483	c	FCL065	Facial Palsy, Familial Recurrent Peripheral	14
484	c	SZR025	Seizures, Benign Familial Neonatal, 3	14
485	c	NNS019	Nonsyndromic Holoprosencephaly	14
486	c	FBR067	Febrile Seizures, Familial, 9	14
487	c	HLP021	Holoprosencephaly 6	13
488	c	SZR024	Seizures, Benign Familial Neonatal, Autosomal Recessive	13
489	c	ANR011	Aneurysm, Intracranial Berry, 2	12
490	c	SZR011	Seizures, Benign Familial Infantile, 4	12
491	c	ANR028	Aneurysm, Intracranial Berry, 3	12
492	c	ANR022	Aneurysm, Intracranial Berry, 4	12
493	c	HYP809	Hypercalciuria, Absorptive, 1	12
494		SYN087	Synovial Chondromatosis, Familial, with Dwarfism	11
495	c	ART152	Aortic Aneurysm, Familial Abdominal, 3	10
496	c	ANR029	Aneurysm, Intracranial Berry, 6	10
497	c	ANR023	Aneurysm, Intracranial Berry, 7	10
498	c	ANR030	Aneurysm, Intracranial Berry, 8	10
499	c	ANR024	Aneurysm, Intracranial Berry, 9	10
500	c	ANR026	Aneurysm, Intracranial Berry, 5	10
501	c	ANR025	Aneurysm, Intracranial Berry, 10	10
502	c	ANR039	Aneurysm, Intracranial Berry, 11	10
503	c	FBR076	Febrile Seizures, Familial, 7	9
504	P	RCR003	Recurrent Peripheral Facial Palsy	9
505		CBP001	Cebpa-Associated Familial Acute Myeloid Leukemia	8
506		THR043	Thrombomodulin Anomalies, Familial	7
507		FML088	Familial Streblodactyly	6
508		FML086	Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect	4
509	c	DYS165	Dysfibrinogenemia, Congenital	33
510		DYS140	Dyskinesia, Familial, with Facial Myokymia	25
511		DGT005	Digital Arthropathy-Brachydactyly, Familial	24
512	c	FML299	Familial Adenomatous Polyposis 3	24
513	c	GNR043	Generalized Epilepsy with Febrile Seizures Plus, Type 7	23
514		MYC066	Myoclonus, Familial Cortical	21
515	c	ATR072	Atrial Fibrillation, Familial, 13	20
516	c	FML270	Familial Cold Autoinflammatory Syndrome 4	19
517	c	ATR059	Atrial Fibrillation, Familial, 11	18
518	c	ATR069	Atrial Fibrillation, Familial, 12	18
519	c	ATR068	Atrial Fibrillation, Familial, 14	17
520	c	EPS028	Episodic Pain Syndrome, Familial, 3	16
521	c	ERY032	Erythrocytosis, Familial, 4	15
522	P	PRK057	Parkinson Disease, Late-Onset	76
523	P	CRY007	Cryoglobulinemia, Familial Mixed	54
524	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	52
525	c	ALZ054	Alzheimer Disease 4	41
526	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	41
527	c	ERL056	Early-Onset Parkinson's Disease	40
528	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	39
529	c	TYP024	Type Ii Mixed Cryoglobulinemia	35
530		ARR046	Arrhythmogenic Right Ventricular Dysplasia, Familial, 2	35
531	c	PRK025	Parkinson Disease 10	35
532	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	33
533		PGM029	Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked	32
534	c	PRK085	Parkinson Disease 1, Autosomal Dominant	31
535	c	PRK071	Parkinson Disease 14, Autosomal Recessive	30
536	c	HYP805	Hypercholesterolemia, Autosomal Dominant, 3	28
537	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	28
538	P	HYP078	Hypertrophy of Breast	27
539	c	PRK093	Parkinson Disease 8, Autosomal Dominant	27
540		CD8002	Cd8 Deficiency, Familial	25
541	c	PRK065	Parkinson Disease 20, Early-Onset	25
542	c	HRD173	Hereditary Late-Onset Parkinson Disease	25
543	c	PSD093	Pseudohypoaldosteronism, Type Iid	24
544	P	TTH010	Tooth Agenesis, Selective, 1	24
545	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	24
546		HYP344	Hyperthyroidism, Familial Gestational	23
547	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
548	c	PRK052	Parkinson Disease 17	22
549	c	PRK070	Parkinson Disease 21	22
550	c	TTH013	Tooth Agenesis, Selective, 4	22
551	c	JVN058	Juvenile-Onset Parkinson's Disease	21
552		HYP279	Hypercholanemia, Familial	21
553	c	PRK099	Parkinson Disease 18, Autosomal Dominant	21
554		EPL204	Epilepsy, Nocturnal Frontal Lobe, 4	21
555		SCP007	Scaphocephaly, Maxillary Retrusion, and Mental Retardation	21
556		CLL041	Collagenoma, Familial Cutaneous	21
557		GLC043	Glucocorticoid Deficiency 2	21
558	c	PRK008	Parkinson Disease Type 9	20
559	c	ADV003	Advanced Sleep Phase Syndrome, Familial, 1	20
560	c	PRK094	Parkinson Disease 11, Autosomal Dominant	20
561	c	PRK096	Parkinson Disease 13, Autosomal Dominant	19
562	c	ART118	Aortic Aneurysm, Familial Thoracic 9	19
563	c	ATR035	Atrial Fibrillation, Familial, 6	19
564	c	CND031	Candidiasis, Familial, 9	19
565	c	ATR061	Atrial Fibrillation, Familial, 10	19
566	c	HYP708	Hyperaldosteronism, Familial, Type Iv	18
567	c	ATR037	Atrial Fibrillation, Familial, 7	18
568	c	ATR092	Atrial Fibrillation, Familial, 15	18
569	c	HYP678	Hypertrophy of the Breast, Juvenile	18
570	c	PRK022	Parkinson Disease 12	17
571	c	ART133	Aortic Aneurysm, Familial Thoracic 11	17
572	c	ATR039	Atrial Fibrillation, Familial, 4	17
573	c	ATR085	Atrial Fibrillation, Familial, 18	17
574	c	ATR038	Atrial Fibrillation, Familial, 3	17
575	c	TTH012	Tooth Agenesis, Selective, 3	17
576	c	ART107	Aortic Aneurysm, Familial Thoracic 8	17
577	c	ERY031	Erythrocytosis, Familial, 3	17
578	c	ADV007	Advanced Sleep Phase Syndrome, Familial, 2	17
579		GLC053	Glucocorticoid Deficiency 3	16
580	c	PRK083	Parkinson Disease 22, Autosomal Dominant	16
581	c	TTH011	Tooth Agenesis, Selective, 2	16
582	c	ADV006	Advanced Sleep Phase Syndrome, Familial, 3	16
583	c	LRR001	Lrrk2-Related Parkinson Disease	16
584	c	PRK098	Parkinson Disease 5, Autosomal Dominant	16
585	c	TTH027	Tooth Agenesis, Selective, 8	15
586	c	ATR070	Atrial Fibrillation, Familial, 9	15
587	c	TTH025	Tooth Agenesis, Selective, 9	14
588	c	TTH026	Tooth Agenesis, Selective, 7	14
589	c	TTH017	Tooth Agenesis, Selective, 5	14
590	c	ERY063	Erythrocytosis, Familial, 5	13
591	c	PRK058	Parkinson Disease 16	13
592	c	MXD037	Mixed Cryoglobulinemia Type Iii	12
593	c	HYP333	Hyperlipidemia, Combined, 2	11
594	c	XNC002	X Inactivation, Familial Skewed, 2	11
595	c	VPS003	Vps35-Related Parkinson Disease	8
596		FML160	Familial Spastic Paralysis	6
597	c	SYS001	Systemic Lupus Erythematosus	86
598	c	CHR089	Chronic Kidney Failure	72
599	P	PLM036	Pulmonary Fibrosis	69
600	P	LPS004	Lupus Erythematosus	68
601	P	KDN018	Kidney Disease	68
602	c	MLT160	Multiple Endocrine Neoplasia, Type Iia	65
603	c	WLM013	Wilms Tumor 1	64
604	P	MYS005	Myositis	63
605		HYP020	Hyperprolactinemia	63
606	P	HMN010	Hemangioma	60
607	c	AFB002	Afibrinogenemia, Congenital	60
608	c	WLM018	Wilms Tumor 5	60
609	P	OVR049	Ovarian Disease	59
610	c	MLT159	Multiple Endocrine Neoplasia, Type Iib	58
611	P	KDN017	Kidney Cancer	58
612	c	VSC019	Vesicoureteral Reflux 1	57
613	P	MLT074	Multiple Endocrine Neoplasia	55
614	c	ACT071	Acute Kidney Failure	54
615	c	MLT086	Multiple Endocrine Neoplasia, Type Iv	52
616	P	OTS001	Otosclerosis	52
617	P	AFB001	Afibrinogenemia	49
618		HRT015	Heritable Pulmonary Arterial Hypertension	48
619		ACH015	Achalasia, Familial Esophageal	39
620		PRM237	Primary Hypomagnesemia	39
621	c	WLM011	Wilms Tumor 6	38
622		DSQ001	Desquamative Interstitial Pneumonia	38
623		GTR011	Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors	38
624	c	MYG007	Myoglobinuria, Recurrent	38
625	P	MYG005	Myoglobinuria	37
626	c	FML297	Familial Thyroid Dyshormonogenesis	37
627	P	HRD009	Hereditary Wilms' Tumor	36
628	P	LTT001	Lattice Corneal Dystrophy	35
629	c	SYS061	Systemic Lupus Erythematosus 16	35
630		FML304	Familial Isolated Dilated Cardiomyopathy	35
631		FBR089	Fibrosclerosis, Multifocal	34
632		PSD021	Pseudovaginal Perineoscrotal Hypospadias	34
633	c	PRP091	Porphyria Cutanea Tarda, Type I	33
634	c	CRN236	Corneal Dystrophy, Lattice Type I	33
635	c	PSD090	Pseudohypoaldosteronism, Type Iia	32
636		FML264	Familial Bicuspid Aortic Valve	32
637	c	KDN016	Kidney Benign Neoplasm	31
638	c	PRV019	Periventricular Nodular Heterotopia 1	30
639		CLB019	Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly	30
640		HYP249	Hyperthyroidism, Nonautoimmune	29
641	P	FML284	Familial Vesicoureteral Reflux	29
642	c	PMP006	Pemphigus Vulgaris, Familial	28
643	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	27
644	c	HYP699	Hyperekplexia 1	26
645	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	26
646	c	OTS005	Otosclerosis 1	26
647	c	FML272	Familial Sick Sinus Syndrome	25
648	c	SYS043	Systemic Lupus Erythematosus 1	25
649		SHR108	Short Stature, Idiopathic, X-Linked	25
650		HYP677	Hyperthyroxinemia, Familial Dysalbuminemic	25
651		FML214	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form	25
652		FML215	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	25
653	c	CRN160	Corneal Dystrophy, Lattice Type Iiia	25
654	P	THY061	Thyroid Dyshormonogenesis 2a	24
655		EDC001	Edict Syndrome	24
656	c	ALZ016	Alzheimer Disease 8	23
657	c	THY071	Thyroid Dyshormonogenesis 1	23
658		CRT040	Corticosterone Methyloxidase Type Ii Deficiency	23
659	c	FML324	Familial Porphyria Cutanea Tarda	22
660		FLR007	Failure of Tooth Eruption, Primary	22
661		FCT029	Factor V and Factor Viii, Combined Deficiency of, 1	22
662	c	LTT008	Lattice Corneal Dystrophy Type Ii	22
663		VLV047	Volvulus of Midgut	21
664	c	THY063	Thyroid Dyshormonogenesis 4	21
665	c	SYS038	Systemic Lupus Erythematosus 2	21
666		FML293	Familial Isolated Restrictive Cardiomyopathy	21
667	c	PRV018	Periventricular Nodular Heterotopia 7	21
668	c	ALZ057	Alzheimer Disease 10	20
669	c	THY056	Thyroid Dyshormonogenesis 3	20
670	c	ALZ012	Alzheimer Disease 12	20
671	c	FBR073	Febrile Seizures, Familial, 1	20
672	c	ALZ053	Alzheimer Disease 7	20
673	c	HYP510	Hyperekplexia 2	20
674	c	WLM005	Wilms Tumor 2	19
675	c	PRV016	Periventricular Nodular Heterotopia 6	19
676		EPL113	Epilepsy, Familial Temporal Lobe, 4	19
677	c	VSC046	Vesicoureteral Reflux 8	19
678	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
679	c	THY062	Thyroid Dyshormonogenesis 5	18
680	c	THY110	Thyroid Dyshormonogenesis 6	18
681	c	HYP519	Hyperekplexia 3	18
682	c	SYS046	Systemic Lupus Erythematosus 3	18
683	P	FML340	Familial Episodic Pain Syndrome	18
684	c	LPR019	Lipe-Related Familial Partial Lipodystrophy	17
685	c	WLM017	Wilms Tumor 4	17
686		ARR049	Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	17
687	c	SYS069	Systemic Lupus Erythematosus 6	17
688	c	SYS053	Systemic Lupus Erythematosus 5	17
689		FML325	Familial Cervical Artery Dissection	17
690	c	VSC025	Vesicoureteral Reflux 3	17
691		MGR036	Migraine with or Without Aura 2	16
692		ANG063	Angiolipomatosis, Familial	16
693	c	PLM044	Pulmonary Fibrosis, Familial	16
694	c	ACQ004	Acquired Hemangioma	15
695	c	WLM015	Wilms Tumor 3	15
696		ARR047	Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	15
697	c	HYP825	Hyperekplexia 4	15
698	c	SYS041	Systemic Lupus Erythematosus 9	15
699	c	SYS040	Systemic Lupus Erythematosus 10	15
700	c	OTS007	Otosclerosis 3	15
701	c	VSC020	Vesicoureteral Reflux 2	14
702	c	OTS012	Otosclerosis 10	14
703	c	SYS065	Systemic Lupus Erythematosus 11	14
704	c	MYG006	Myoglobinuria, Autosomal Dominant	14
705	c	FBR074	Febrile Seizures, Familial, 6	14
706		HYP786	Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy	14
707	c	FBR071	Febrile Seizures, Familial, 5	14
708	c	FBR075	Febrile Seizures, Familial, 2	14
709	c	SYS055	Systemic Lupus Erythematosus 12	13
710	c	OTS010	Otosclerosis 7	13
711	c	MLG144	Malignant Hemangioma	13
712	c	SPR097	Sporadic Hyperekplexia	13
713	c	SYS051	Systemic Lupus Erythematosus 4	13
714	c	SYS047	Systemic Lupus Erythematosus 7	13
715	c	FBR068	Febrile Seizures, Familial, 10	13
716		STL002	Stalker Chitayat Syndrome	13
717		ERY057	Erythema Nodosum, Familial	13
718	c	BCT018	Bacterial Myositis	13
719		FCT027	Factors Viii, Ix and Xi, Combined Deficiency of	13
720		DGH001	Doughnut Lesions of Skull, Familial	13
721	c	OTS011	Otosclerosis 8	13
722	c	VRL025	Viral Myositis	12
723	c	OTS008	Otosclerosis 4	12
724	c	ART151	Aortic Aneurysm, Familial Abdominal, 2	12
725		CMD004	Comedones, Familial Dyskeratotic	12
726	c	RNL016	Renal Infectious Disease	11
727	c	SYS048	Systemic Lupus Erythematosus 8	11
728	c	SYS052	Systemic Lupus Erythematosus 13	11
729	c	SYS045	Systemic Lupus Erythematosus 14	11
730		FCT025	Factor Vii and Factor Viii, Combined Deficiency of	11
731		EPL124	Epilepsy, Familial Temporal Lobe, 6	11
732	c	SYS067	Systemic Lupus Erythematosus 15	10
733	c	CRD057	Cardiomyopathy, Familial Restrictive, 2	10
734		NGY001	Nguyen Syndrome	10
735		IMM016	Immune Deficiency, Familial Variable	10
736		FCT028	Factor Ix and Factor Xi, Combined Deficiency of	10
737	c	OTS006	Otosclerosis 2	10
738	c	OTS009	Otosclerosis 5	10
739		FCT026	Factor Viii and Factor Ix, Combined Deficiency of	10
740		HYP694	Hyperreninemic Hypoaldosteronism, Familial, 2	9
741	c	VSC040	Vesicoureteral Reflux 4	9
742	c	VSC042	Vesicoureteral Reflux 5	9
743	c	VSC043	Vesicoureteral Reflux 6	9
744	c	VSC041	Vesicoureteral Reflux 7	9
745	c	ADV008	Advanced Sleep Phase Syndrome 2	9
746		GNT044	Genetic Atypical Hemolytic-Uremic Syndrome	9
747	c	RNR002	Ren-Related Kidney Disease	9
748	P	STT036	Stuttering, Familial Persistent, 3	8
749	c	STT039	Stuttering, Familial Persistent, 4	8
750	c	AXN008	Axin2-Related Attenuated Familial Adenomatous Polyposis	8
751	c	KDN012	Kidney Carcinoma in Situ	7
752	c	OTS004	Otosclerosis, Familial	6
753	c	RNL033	Renal Carcinoma, Familial	5
754	c	FML158	Familial Hemangioma	5
755		LTR010	Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities	5
756	c	OVR071	Ovarian Insufficiency, Familial	5
757	c	LCL003	Localized Pulmonary Fibrosis	5
758	P	MTR029	Mitral Valve Prolapse, Familial, Autosomal Dominant	3
759	c	SZR003	Seizures Benign Familial Neonatal Recessive Form	3
760	c	MYG002	Myoglobinuria Dominant Form	3
761	c	OVR070	Ovarian Insufficiency Due to Fsh Resistance	3
762		ANT031	Anterior Pituitary Insufficiency, Familial	3
763		HYP197	Hypofibrinogenemia, Familial	3
764		FML082	Familial Partial Paralysis	3
765		NPH020	Nephronophthisis Familial Adult Spastic Quadriparesis	3
766		NPH022	Nephropathy Familial with Hyperuricemia	3
767		EPL014	Epilepsy, Partial, Familial	2
768		DST014	Distal Primary Acidosis, Familial	2
769		HYP153	Hypergonadotropic Ovarian Failure, Familial or Sporadic	2
770		HYP177	Hypertensive Hypokalemia Familial	2
771		PLM055	Pulmonary Artery Familial Dilatation	2
772		PLM063	Pulmonary Hypoplasia Familial Primary	2
773		RGH002	Right Atrium Familial Dilatation	2
774		NSL012	Nasal Polyposis, Familial	2
775		ACT164	Actinic Prurigo	48
776	P	HYP750	Hypertriglyceridemia, Familial	44
777	c	HYP555	Hypertriglyceridemia, Transient Infantile	31
778		ATN012	Autoinflammatory Syndrome, Familial, Behcet-Like	20
779	c	EPS027	Episodic Pain Syndrome, Familial, 2	17
780	c	EPL187	Epilepsy, Familial Focal, with Variable Foci 2	17
781	c	EPL192	Epilepsy, Familial Focal, with Variable Foci 3	16
782	P	GLL022	Guillain-Barre Syndrome	60
783		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	60
784	P	BRG001	Brugada Syndrome	60
785	c	BRG005	Brugada Syndrome 1	46
786		FML091	Familial Tumoral Calcinosis	46
787	P	ACQ022	Acquired Generalized Lipodystrophy	44
788	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	35
789	P	VRT013	Vertigo, Benign Recurrent	33
790	c	BRG007	Brugada Syndrome 5	32
791		LCR013	Lacrimal Duct Defect	32
792		ATS009	Autosomal Genetic Disease	30
793	c	BRG006	Brugada Syndrome 2	26
794		GLC105	Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency	25
795	c	GLL037	Guillain-Barre Syndrome, Familial	25
796	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	22
797	c	BRG010	Brugada Syndrome 8	22
798	c	ART134	Aortic Aneurysm, Familial Thoracic 10	22
799	c	BRG012	Brugada Syndrome 9	21
800	c	BRG003	Brugada Syndrome 3	21
801	c	BRG009	Brugada Syndrome 7	20
802		PPL052	Papillomatosis, Confluent and Reticulated	19
803	c	BRG004	Brugada Syndrome 4	18
804	c	BRG008	Brugada Syndrome 6	17
805	c	HYP563	Hyperpigmentation, Familial Progressive, 1	15
806		CRR016	Cirrhosis, Familial	14
807		GZP004	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2	13
808	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	11
809	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	11
810	c	ERY064	Erythrocytosis, Familial, 6	11
811	c	ERY065	Erythrocytosis, Familial, 7	11
812	c	VRT008	Vertigo, Benign Recurrent, 2	7
813	c	FML226	Familial Dupuytren Contracture	3
814	P	CLR023	Colorectal Cancer	97
815	c	HYP595	Hypertension, Essential	76
816	P	RTN024	Retinoblastoma	70
817	P	MYL005	Myelofibrosis	70
818	P	CRN037	Craniosynostosis	67
819	c	THR092	Thrombophilia Due to Thrombin Defect	67
820	P	DYS154	Dystonia	64
821		OVR029	Ovarian Hyperstimulation Syndrome	64
822	c	HYP798	Hypophosphatemic Rickets, X-Linked Recessive	60
823	P	HYP083	Hypopituitarism	58
824	P	THR015	Thrombophilia	57
825	P	LCH002	Lichen Planus	57
826	P	ACT008	Actinic Keratosis	54
827		HMZ003	Homozygous Familial Hypercholesterolemia	54
828		TTH002	Tooth Agenesis	53
829	P	LFT003	Left Ventricular Noncompaction	52
830	P	OBS001	Obstructive Jaundice	52
831	P	DPY001	Dupuytren Contracture	51
832		VTM027	Vitamin D-Dependent Rickets, Type 2a	51
833	P	SHR029	Short Syndrome	51
834		HYP732	Hyperalphalipoproteinemia 1	50
835	P	SYR001	Syringomyelia	50
836		MCL027	Macular Dystrophy, Dominant Cystoid	50
837	P	KRT005	Keratoacanthoma	49
838	P	RNL017	Renal Oncocytoma	48
839	c	MLG069	Malignant Hypertension	48
840	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	47
841	P	BND018	Band Heterotopia	46
842	c	THR082	Thrombophilia Due to Activated Protein C Resistance	46
843	P	CLS010	Cluster Headache	46
844		BNG009	Benign Epilepsy with Centrotemporal Spikes	45
845	c	CHL140	Chilblain Lupus 1	44
846	c	SHR030	Short Qt Syndrome	43
847	c	ANT077	Anterior Segment Dysgenesis 1	42
848	P	HMF004	Hemifacial Spasm	41
849	P	ORF002	Orofacial Cleft	41
850	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	41
851	c	PRN053	Porencephaly 1	41
852		BRR012	Berardinelli-Seip Congenital Lipodystrophy	40
853	c	DYS146	Dystonia 24	40
854	P	HYP120	Hypoaldosteronism	40
855	P	INT080	Intraocular Melanoma	40
856	P	HRD086	Hereditary Hypophosphatemic Rickets	39
857	c	CRN278	Craniosynostosis 1	39
858	P	GLM006	Glomangioma	38
859	c	ERL006	Early-Onset Familial Alzheimer Disease	38
860	c	MNS014	Monosomy 22	37
861	c	ANT071	Anterior Segment Dysgenesis 4	37
862		FCT034	Factor V and Factor Viii, Combined Deficiency of, 2	36
863		PDT014	Pediatric Ependymoma	36
864	c	SPR083	Sporadic Hemiplegic Migraine	36
865	c	CLR085	Colorectal Cancer 1	35
866		SPN354	Spinal Arachnoiditis	35
867	c	ANT086	Anterior Segment Dysgenesis 2	34
868	c	FML008	Familial Retinoblastoma	34
869		NND010	Nondisjunction	34
870	c	FML294	Familial Short Qt Syndrome	33
871	c	DYS119	Dystonia 9	33
872	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	32
873	P	FML187	Familial Hypertension	31
874	c	FML311	Familial Colorectal Cancer Type X	31
875	c	VNT029	Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	29
876	c	VNT010	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	29
877	P	MDL008	Medullary Cystic Kidney Disease 1	29
878	c	HRD198	Hereditary Dystonia	29
879	c	CRN277	Craniosynostosis 2	28
880		FML292	Familial Drusen	28
881	P	CRY006	Cryofibrinogenemia	28
882	c	FML306	Familial or Sporadic Hemiplegic Migraine	27
883	c	MLG039	Malignant Essential Hypertension	27
884		IDP085	Idiopathic Infantile Hypercalcemia	27
885	c	CLR080	Colorectal Cancer 5	27
886	c	LFT021	Left Ventricular Noncompaction 1	27
887	c	ANT084	Anterior Segment Dysgenesis 3	27
888	c	DYS162	Dystonia, Juvenile-Onset	27
889	c	BNG021	Benign Essential Hypertension	27
890	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	26
891	c	DYS059	Dystonia 16	26
892		HYP693	Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia	26
893	c	CLR077	Colorectal Cancer 10	26
894	c	CRN217	Craniosynostosis 3	25
895	c	ALZ002	Alzheimer Disease Type 1	25
896	c	CRN281	Craniosynostosis 7	25
897	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	25
898	c	MLG080	Malignant Secondary Hypertension	24
899	c	ANT085	Anterior Segment Dysgenesis 5	24
900	c	ANT083	Anterior Segment Dysgenesis 7	24
901		PTR030	Pterygium of Conjunctiva and Cornea	24
902	c	MYS062	Myasthenic Syndrome, Congenital, 2a, Slow-Channel	24
903		LRY046	Laryngeal Web, Familial	23
904		ALP047	Alport Syndrome and Thin Basement Membrane Nephropathy	23
905	P	FML305	Familial Abdominal Aortic Aneurysm	23
906	c	DYS145	Dystonia 23	22
907	c	CRN221	Craniosynostosis 4	22
908	c	SHR032	Short Qt Syndrome 2	22
909	c	CRN216	Craniosynostosis 5	22
910	c	ART068	Aortic Aneurysm, Familial Thoracic 2	22
911	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	22
912	c	PRK091	Parkinson Disease 4, Autosomal Dominant	22
913	c	DYS151	Dystonia 25	22
914	c	MNS008	Monosomy 21	22
915	c	CLR087	Colorectal Cancer 12	21
916	c	VNT027	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	21
917	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	21
918	c	FML223	Familial Keratoacanthoma	21
919	c	SCN048	Secondary Syringomyelia	21
920	P	MNS011	Monosomy 9q22.3	21
921	c	CLR075	Colorectal Cancer 3	21
922	c	DYS138	Dystonia 21	21
923	c	CRN256	Craniosynostosis 6	21
924	P	ACT232	Acute Necrotizing Encephalopathy	21
925	c	LFT017	Left Ventricular Noncompaction 8	21
926		DRM041	Dermoid Cysts, Familial Frontonasal	21
927	c	ORF027	Orofacial Cleft 11	21
928	P	FML337	Familial Chilblain Lupus	20
929	c	MDL021	Medullary Cystic Kidney Disease 2	20
930	P	CNG070	Congenital Dislocation of the Patella	20
931	c	DYS172	Dystonia 27	20
932	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	20
933	c	SHR031	Short Qt Syndrome 1	20
934		PRT112	Portal Hypertension, Noncirrhotic	20
935	c	SHR033	Short Qt Syndrome 3	20
936	c	GNS004	Geniospasm 1	19
937	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	19
938	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	19
939	c	ATR026	Atrial Fibrillation, Familial, 1	19
940	c	HYP376	Hypouricemia, Renal, 2	19
941	c	CLR079	Colorectal Cancer 2	18
942		CRT064	Corticosterone Methyloxidase Deficiency	18
943	c	LFT018	Left Ventricular Noncompaction 10	18
944	c	ANT087	Anterior Segment Dysgenesis 6	18
945	c	ANT067	Anterior Segment Dysgenesis 8	18
946		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	18
947	c	ORF047	Orofacial Cleft 15	18
948	c	HMF011	Hemifacial Spasm, Familial	18
949		CRN258	Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	17
950	c	ORF048	Orofacial Cleft 1	17
951	c	FML268	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes	17
952	c	FML028	Familial Renal Oncocytoma	17
953	c	ORF049	Orofacial Cleft 3	17
954		RTN211	Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract	17
955	c	ALZ058	Alzheimer Disease 11	17
956	c	CHL114	Chilblain Lupus 2	17
957		ZNC006	Zinc, Elevated Plasma	17
958	c	FML267	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis	16
959	c	ORF050	Orofacial Cleft 2	16
960	c	THR023	Thrombophilia Due to Thrombomodulin Defect	16
961	c	ORF031	Orofacial Cleft 14	16
962	c	LFT020	Left Ventricular Noncompaction 7	16
963	c	ORF014	Orofacial Cleft 5	16
964	c	ORF025	Orofacial Cleft 6	16
965		PRP095	Priapism, Familial Idiopathic	15
966	c	ORF028	Orofacial Cleft 10	15
967		MGR033	Migraine with or Without Aura 6	15
968	c	HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	15
969		FML315	Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia	14
970	c	CLS053	Cluster Headache, Familial	14
971	c	ATR027	Atrial Fibrillation, Familial, 5	14
972	c	ORF020	Orofacial Cleft 12	14
973	c	ACT229	Acute Necrotizing Encephalopathy Type 1	14
974	c	CLR083	Colorectal Cancer 8	14
975	c	ANR027	Aneurysm, Intracranial Berry, 1	14
976	c	CLR082	Colorectal Cancer 7	13
977		IDP075	Idiopathic and/or Familial Pulmonary Arterial Hypertension	13
978	c	ORF023	Orofacial Cleft 4	13
979	c	PRT045	Prothrombin-Related Thrombophilia	13
980	c	ATR025	Atrial Fibrillation, Familial, 2	13
981	c	CLR081	Colorectal Cancer 6	13
982	c	FML275	Familial Hypoaldosteronism	13
983	P	SPR075	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis	13
984	c	THR119	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	13
985	P	ALK019	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1	12
986	c	ATR028	Atrial Fibrillation, Familial, 8	12
987		ENT017	Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency	12
988	c	FML258	Familial Acute Necrotizing Encephalopathy	12
989	c	FML196	Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland	12
990		FML202	Familial Alzheimer-Like Prion Disease	12
991	c	ORF029	Orofacial Cleft 13	11
992		ART142	Arteritis, Familial Granulomatous, with Juvenile Polyarthritis	11
993	c	HYP452	Hypertension, Essential 6	11
994	c	CLR084	Colorectal Cancer 9	11
995	c	CLR078	Colorectal Cancer 11	11
996		ANH005	Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands	11
997		ATR090	Atrophia Maculosa Varioliformis Cutis, Familial	11
998	c	FML025	Familial Glomangioma	11
999	c	FML255	Familial Syringomyelia	11
1000	c	ORF024	Orofacial Cleft 9	11
1001	c	EPL220	Epilepsy, Familial Focal, with Variable Foci 4	11
1002	P	HRD194	Hereditary Geniospasm	11
1003	c	KRT070	Keratosis, Familial Actinic	11
1004		OPH017	Ophthalmoplegia, Familial Total, with Iris Transillumination	11
1005	c	PRM168	Primary Syringomyelia	11
1006	c	HYP449	Hypertension, Essential 3	11
1007	c	HYP450	Hypertension, Essential 4	11
1008		ADR055	Adrenocortical Unresponsiveness to Acth with Postreceptor Defect	11
1009	c	LCH017	Lichen Planus, Familial	11
1010	P	CHR636	Chorea, Benign Familial	11
1011		FML079	Familial Nasal Acilia	11
1012	c	FML230	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation	10
1013		CHR631	Choreoathetosis, Familial Inverted	10
1014	c	HYP451	Hypertension, Essential 5	10
1015	c	LFT011	Left Ventricular Noncompaction 2	10
1016		CHY007	Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase	10
1017		OPH016	Ophthalmoplegia, Familial Static	10
1018		ALZ052	Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology	10
1019		DFN343	Deafness, Congenital, and Familial Myoclonic Epilepsy	10
1020		EDM003	Edema, Familial Idiopathic, Prepubertal	10
1021	c	HYP447	Hypertension, Essential 1	10
1022	c	HYP448	Hypertension, Essential 2	10
1023	c	HYP453	Hypertension, Essential 7	10
1024	c	HYP454	Hypertension, Essential 8	10
1025		CLC061	Calcific Aortic Disease with Immunologic Abnormalities, Familial	10
1026		CRD227	Cardiac Lipidosis, Familial	10
1027	c	PTL011	Patella, Familial Recurrent Dislocation of	10
1028	c	CRY033	Cryofibrinogenemia, Familial Primary	9
1029	c	HYP799	Hypouricemia, Familial Renal, Due to Tubular Hypersecretion	9
1030	c	MRL006	Meralgia Paraesthetica, Familial	9
1031		CNV019	Convulsive Disorder, Familial, with Prenatal or Early Onset	9
1032	c	ART108	Aortic Aneurysm, Familial Abdominal, 4	9
1033		HST021	Histiocytosis, Familial Lipochrome	9
1034		CNC019	Cancer, Familial, with in Vitro Radioresistance	9
1035		ALP096	Alopecia, Familial Focal	9
1036		FML336	Familial Patent Arterial Duct	9
1037		ANT082	Antithrombin, Familial Hemorrhagic Diathesis Due to	9
1038	c	JND003	Jaundice, Familial Obstructive, of Infancy	9
1039	c	APR002	Aip-Related Familial Isolated Pituitary Adenomas	9
1040	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	9
1041		LGL002	Leg Ulcers, Familial, of Juvenile Onset	9
1042	c	KMT002	Kmt2b-Related Dystonia	8
1043	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	8
1044	c	FML072	Familial Hypopituitarism	8
1045		LMB070	Lumbar Stenosis, Familial	8
1046		SPR121	Superior Transverse Scapular Ligament, Calcification of, Familial	8
1047		MSC143	Muscle Cramps, Familial	8
1048	c	MLN068	Melanoma, Malignant Familial Intraocular	8
1049		IDP082	Idiopathic Ventricular Fibrillation, Non Brugada Type	8
1050		NSL026	Nasal Hyperpigmentation, Familial Transverse	8
1051		STT047	Setting-Sun Phenomenon, Familial Benign	8
1052		MCR339	Macrocytosis, Familial	7
1053		STR098	Striae Distensae, Familial	7
1054	c	CTC003	Catecholaminergic Polymorphic Ventricular Tachycardia 5	7
1055		NSL025	Nasal Groove, Familial Transverse	7
1056		AZT005	Azotemia, Familial	7
1057		BND019	Bundle Branch Block, Familial Isolated Complete Right	7
1058		CRM011	Cramps, Familial Adolescent	7
1059		URT053	Urticaria, Familial Localized Heat	7
1060		FVR001	Fever, Familial Lifelong Persistent	7
1061		BRD052	Broad Terminal Phalanges, Familial	7
1062	c	BNG034	Benign Secondary Hypertension	7
1063	c	FML078	Familial Myelofibrosis	7
1064		CRY034	Cryptotia, Familial	6
1065		INS028	Insulin Receptors, Familial Increase in	6
1066		XLN202	X-Linked Acrogigantism Due to a Point Mutation	6
1067		PCH021	Pachydermodactyly, Familial	6
1068	c	ALK020	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2	6
1069		BNG066	Benign Familial Mesial Temporal Lobe Epilepsy	6
1070		PNC125	Pancreatic Lymphoma, Familial	6
1071	c	RRL001	Rare Lichen Planus	5
1072		FML194	Familial Clubfoot with or Without Associated Lower Limb Anomalies	5
1073		OST166	Osteoma of Cranial Vault, Familial	5
1074	c	ALK021	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3	5
1075	c	ALK022	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4	5
1076	P	SPR074	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes	5
1077		FML051	Familial Capillaro-Venous Leptomeningeal Angiomatosis	5
1078	c	CRN093	Craniosynostosis Autosomal Dominant	5
1079		FML335	Familial Gastric Type 1 Neuroendocrine Tumor	5
1080		FML216	Familial Isolated Clinodactyly of Fingers	4
1081		BLN022	Blue Nevi, Familial Multiple	4
1082		BRC118	Brachial Palsy, Familial Congenital	4
1083		FML224	Familial Idiopathic Dilatation of the Right Atrium	4
1084		LSS038	Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia	4
1085	P	SPR073	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation	4
1086	c	FML317	Familial Monosomy 7 Syndrome	4
1087	c	FML049	Familial Band Heterotopia	4
1088		ADL092	Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome	3
1089		FML200	Familial Omphalocele Syndrome with Facial Dysmorphism	3
1090		FML047	Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension	2
1091		FML074	Familial Interstitial Fibrosis	2
1092	P	DBT026	Diabetes Mellitus, Noninsulin-Dependent	91
1093		STR067	Stroke, Ischemic	82
1094	P	RTN008	Retinitis Pigmentosa	81
1095	P	MYC007	Myocardial Infarction	79
1096	P	HPT021	Hepatitis	76
1097	P	INF038	Influenza	76
1098	P	PLM037	Pulmonary Hypertension	75
1099	P	HRT032	Heart Disease	74
1100		KPS004	Kaposi Sarcoma	73
1101	c	HPT073	Hepatitis C Virus	72
1102	P	GRF003	Graft-Versus-Host Disease	71
1103	c	HPT001	Hepatitis C	71
1104	c	PRM196	Premature Ovarian Failure 1	71
1105	P	ATS364	Autism	70
1106	P	AGM001	Agammaglobulinemia	69
1107	P	DMN001	Diamond-Blackfan Anemia	69
1108	P	HYD006	Hydrocephalus	69
1109	P	CRN018	Coronary Artery Anomaly	68
1110	c	DNG003	Dengue Disease	68
1111	P	CWD001	Cowden Disease	67
1112	P	DYS007	Dyskeratosis Congenita	67
1113	c	HPT016	Hepatitis B	67
1114	P	ATT013	Attention Deficit-Hyperactivity Disorder	66
1115	P	PSR002	Psoriasis	65
1116	P	DBT085	Diabetes Mellitus, Insulin-Dependent	65
1117		PSR001	Psoriatic Arthritis	65
1118	P	LNG028	Long Qt Syndrome	65
1119	P	CHR071	Charcot-Marie-Tooth Disease	65
1120	c	CRN300	Coronary Heart Disease 1	64
1121	c	CHR417	Chronic Graft Versus Host Disease	64
1122	P	CRN015	Cornelia De Lange Syndrome	64
1123	P	LBR001	Leber Congenital Amaurosis	64
1124	P	GLL020	Gallbladder Disease	64
1125	P	CCK001	Cockayne Syndrome	63
1126		HLC007	Helicobacter Pylori Infection	63
1127	P	NRC002	Narcolepsy	63
1128	c	DPH024	Diaphragmatic Hernia, Congenital	63
1129	P	ENC018	Encephalopathy	62
1130	P	CTS001	Cutis Laxa	62
1131	c	ATM011	Autoimmune Hepatitis	62
1132	P	BRD002	Bardet-Biedl Syndrome	62
1133	P	HRM001	Hermansky-Pudlak Syndrome	62
1134	P	HYP055	Hypoplastic Left Heart Syndrome	62
1135	P	GLY013	Glycogen Storage Disease	61
1136	c	ART115	Aortic Valve Disease 1	61
1137	P	WLF004	Wolfram Syndrome	61
1138	c	ATS007	Autism Spectrum Disorder	61
1139	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
1140		VTR013	Vitreoretinopathy, Neovascular Inflammatory	61
1141	c	HPT003	Hepatitis a	61
1142		TBC004	Tobacco Addiction	60
1143	P	PLY014	Polycystic Kidney Disease	60
1144	P	MTR004	Maturity-Onset Diabetes of the Young	60
1145	c	ATS347	Autosomal Dominant Polycystic Kidney Disease	60
1146	c	MCP001	Mucopolysaccharidosis Iii	60
1147	P	CTR002	Cataract	60
1148	P	FCL005	Focal Segmental Glomerulosclerosis	59
1149	c	ERL029	Early-Onset, Autosomal Dominant Alzheimer Disease	59
1150	P	STR022	Stargardt Disease	59
1151	P	CRD132	Cardiac Conduction Defect	59
1152	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	59
1153	c	VRL010	Viral Hepatitis	59
1154	c	MCP004	Mucopolysaccharidosis Iv	59
1155	P	VNT002	Ventricular Septal Defect	58
1156	P	OCL002	Oculocutaneous Albinism	58
1157	P	USH001	Usher Syndrome	58
1158		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	58
1159	P	CFF008	Coffin-Siris Syndrome 1	58
1160	P	MSC007	Muscle Hypertrophy	58
1161	c	ACT075	Acute Myocardial Infarction	58
1162	P	TWN003	Townes-Brocks Syndrome	58
1163	P	WRD001	Waardenburg's Syndrome	58
1164	c	SPN294	Spinocerebellar Ataxia 1	58
1165	P	HYP035	Hypophosphatasia	58
1166		HYP810	Hypereosinophilic Syndrome, Idiopathic	58
1167	P	EPL140	Epilepsy, Idiopathic Generalized	57
1168	c	ESS001	Essential Tremor	57
1169	c	GNG001	Gangliosidosis Gm1	57
1170	P	MCR010	Microcephaly	57
1171	c	GLC092	Glaucoma, Primary Open Angle	57
1172	P	ANG015	Angioedema	57
1173	c	ACT135	Acute Graft Versus Host Disease	56
1174	P	DRR001	Diarrhea	56
1175		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	56
1176	P	HYP097	Hyperekplexia	56
1177	P	EPS003	Episodic Ataxia	56
1178	P	DST002	Distal Arthrogryposis	56
1179	P	ATR001	Atrioventricular Septal Defect	56
1180	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	56
1181	P	ACH003	Achromatopsia	56
1182	P	STC001	Stickler Syndrome	56
1183	P	PRG013	Paraganglioma	56
1184	P	SPN301	Spinocerebellar Ataxia 2	56
1185	c	HRD002	Hereditary Angioedema	56
1186	P	ACR001	Aicardi-Goutieres Syndrome	56
1187	P	MYP006	Myopia	56
1188	P	CHL002	Childhood Absence Epilepsy	56
1189	P	PTN014	Patent Ductus Arteriosus 1	55
1190		DGR001	Digeorge Syndrome	55
1191		EXF001	Exfoliation Syndrome	55
1192	P	ACT010	Acth-Secreting Pituitary Adenoma	55
1193	P	DNG005	Dengue Virus	55
1194	c	CLR131	Ciliary Dyskinesia, Primary, 1	55
1195	P	SNR003	Senior-Loken Syndrome 1	55
1196	P	CNG010	Congenital Stationary Night Blindness	55
1197	P	HRD011	Hereditary Spherocytosis	55
1198	P	CNG001	Congenital Myasthenic Syndrome	55
1199	P	SMP003	Simpson-Golabi-Behmel Syndrome	55
1200	c	CWD006	Cowden Syndrome 1	55
1201	P	AGG001	Aggressive Periodontitis	54
1202	P	TRM003	Tremor	54
1203	c	HYP795	Hypothyroidism, Congenital, Nongoitrous, 4	54
1204	P	ICH004	Ichthyosis	54
1205		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	54
1206	P	SCK004	Seckel Syndrome	54
1207	P	LPR002	Leopard Syndrome	54
1208	P	INF016	Infantile Epileptic Encephalopathy	54
1209	c	SPN291	Spinocerebellar Ataxia 7	53
1210	c	INF071	Inflammatory Bowel Disease 1	53
1211	P	THY054	Thyrotoxic Periodic Paralysis	53
1212	P	INF037	Inflammatory Bowel Disease	53
1213	c	HPT007	Hepatitis E	53
1214	c	ICH047	Ichthyosis, Congenital, Autosomal Recessive 1	53
1215		RTN209	Retinoschisis 1, X-Linked, Juvenile	53
1216	P	MLT007	Multiple Epiphyseal Dysplasia	53
1217	P	AXN002	Axenfeld-Rieger Syndrome	53
1218		FND001	Fundus Albipunctatus	53
1219	P	PRM011	Primary Ciliary Dyskinesia	53
1220	P	CPL006	Capillary Hemangioma	53
1221	P	CNT004	Centronuclear Myopathy	53
1222		DBT084	Diabetes Mellitus, Ketosis-Prone	52
1223		PRT082	Preterm Premature Rupture of the Membranes	52
1224	c	NGH026	Night Blindness, Congenital Stationary, Type 1a	52
1225	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	52
1226	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
1227	P	PRC019	Precocious Puberty	52
1228	c	HPT015	Hepatitis D	52
1229		LG4001	Lig4 Syndrome	52
1230	c	CCK007	Cockayne Syndrome B	51
1231	c	ERL020	Early-Onset Schizophrenia	51
1232	P	ADM011	Adams-Oliver Syndrome	51
1233	c	FRS014	Fraser Syndrome 1	51
1234	c	CNT075	Central Precocious Puberty	51
1235		FCT001	Factor Viii Deficiency	51
1236	P	MYM013	Moyamoya Disease 1	51
1237	P	OPN001	Open-Angle Glaucoma	51
1238	P	FNC043	Fanconi Anemia, Complementation Group E	51
1239	c	SCN036	Secondary Progressive Multiple Sclerosis	51
1240	P	BRC006	Brachydactyly	50
1241	P	LPR021	Leprosy 3	50
1242		ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	50
1243	P	PRX021	Proximal Symphalangism	50
1244	P	APL006	Aplasia Cutis Congenita	50
1245	P	NLD001	Nail Disease	50
1246	c	RTN162	Retinitis Pigmentosa 2	50
1247	c	PRD039	Periodontitis, Aggressive, 1	50
1248	c	PRM108	Primary Progressive Multiple Sclerosis	49
1249	c	HYP292	Hypophosphatasia, Infantile	49
1250	c	NNN010	Noonan Syndrome 3	49
1251	P	FBR025	Fibrochondrogenesis	49
1252	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	49
1253		DRR008	Diarrhea 1, Secretory Chloride, Congenital	49
1254	c	CNG216	Congenital Hydrocephalus	49
1255	P	PRS049	Persistent Mullerian Duct Syndrome	49
1256	c	ANG068	Angioedema, Hereditary, Type I	49
1257	c	LBR014	Leber Congenital Amaurosis 4	49
1258	c	HYP293	Hypophosphatasia, Adult	49
1259		ALL001	Allan-Herndon-Dudley Syndrome	49
1260	c	FNC042	Fanconi Anemia, Complementation Group D2	49
1261	P	WLL002	Weill-Marchesani Syndrome	49
1262	P	INF049	Infantile Myofibromatosis	49
1263		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	49
1264	P	HYP087	Hypotrichosis	48
1265	c	SPN293	Spinocerebellar Ataxia 12	48
1266	P	ALT001	Alternating Hemiplegia of Childhood	48
1267	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	48
1268	P	PRM001	Primary Cutaneous Amyloidosis	48
1269	P	GNG025	Gingival Fibromatosis	48
1270	c	DWL002	Dowling-Degos Disease 1	48
1271	c	CCK008	Cockayne Syndrome a	48
1272	P	LSS002	Lissencephaly	48
1273	P	MYT023	Myotonia Congenita	48
1274	P	BRS053	Breast Fibroadenoma	48
1275	P	PRK001	Porokeratosis	48
1276	c	HYP740	Hyperlipoproteinemia, Type V	48
1277	P	KRT007	Keratoconus	48
1278	P	NNT009	Neonatal Diabetes Mellitus	48
1279	c	STR084	Stargardt Disease 1	48
1280	P	LCT002	Lactose Intolerance	47
1281	P	MTH007	Methemoglobinemia	47
1282	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	47
1283	P	CRN013	Craniodiaphyseal Dysplasia	47
1284	P	NML001	Nemaline Myopathy	47
1285	c	SPN314	Spinocerebellar Ataxia 10	47
1286	P	RBN002	Robinow Syndrome	47
1287		EPL073	Epilepsy, Nocturnal Frontal Lobe, 1	47
1288	c	CRN139	Cornelia De Lange Syndrome 1	47
1289	c	PCH012	Pachyonychia Congenita 2	47
1290		SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	47
1291	c	OPT051	Opitz Gbbb Syndrome, Type I	47
1292		CHN056	Chondrosarcoma, Extraskeletal Myxoid	47
1293	c	LFR007	Li-Fraumeni Syndrome 2	47
1294		VNW005	Von Willebrand Disease, Type 1	46
1295	P	OCL001	Ocular Albinism	46
1296	P	HYP726	Hypercalcemia, Infantile, 1	46
1297	c	LBR012	Leber Congenital Amaurosis 2	46
1298	c	DMN023	Diamond-Blackfan Anemia 1	46
1299	c	SCH079	Schizophrenia 1	46
1300	P	KLF001	Kleefstra Syndrome	46
1301	P	KLP003	Klippel-Feil Syndrome	46
1302	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	46
1303		TRN022	Transcobalamin Ii Deficiency	46
1304	c	EHL033	Ehlers-Danlos Syndrome, Classic Type	46
1305		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	46
1306	P	VSC013	Visceral Heterotaxy	46
1307	c	SPN296	Spinocerebellar Ataxia 17	46
1308		ENH001	Enhanced S-Cone Syndrome	46
1309	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	46
1310	c	LTH008	Lethal Congenital Contracture Syndrome 2	46
1311	c	SPH013	Spherocytosis, Type 1	46
1312	P	SCL048	Sclerosteosis	46
1313	P	GLL032	Galloway-Mowat Syndrome	46
1314	c	USH021	Usher Syndrome, Type Iid	46
1315	c	BRD044	Bardet-Biedl Syndrome 17	45
1316	c	WRD020	Waardenburg Syndrome, Type 4a	45
1317	P	MLT072	Multiple Synostoses Syndrome	45
1318	c	ATS082	Autosomal Dominant Robinow Syndrome	45
1319	c	USH035	Usher Syndrome Type 2	45
1320	c	PTT057	Pituitary Adenoma 4, Acth-Secreting	45
1321	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	45
1322	c	SPL024	Split-Hand/foot Malformation 3	45
1323	P	AML002	Amelogenesis Imperfecta	45
1324	c	PSD106	Pseudo-Torch Syndrome 1	45
1325		VNW008	Von Willebrand Disease, Type 3	45
1326	c	LKD010	Leukodystrophy, Hypomyelinating, 2	45
1327		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	45
1328	P	MSC022	Mosaic Variegated Aneuploidy Syndrome	45
1329	P	FNC044	Fanconi Anemia, Complementation Group C	45
1330		VNW010	Von Willebrand Disease, Type 2	45
1331		MCR165	Microphthalmia with Limb Anomalies	45
1332	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	44
1333	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	44
1334	c	ACQ012	Acquired Angioedema	44
1335		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	44
1336		NRL018	Neural Tube Defects, Folate-Sensitive	44
1337		LPP002	Lipoprotein Glomerulopathy	44
1338		TMR010	Tumor Predisposition Syndrome	44
1339	c	RBN009	Robinow Syndrome, Autosomal Recessive	44
1340	P	FRN012	Frontometaphyseal Dysplasia	44
1341	c	MCP047	Mucopolysaccharidosis, Type Iva	44
1342		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	44
1343	c	LKD015	Leukodystrophy, Hypomyelinating, 3	44
1344	P	ATS366	Autism X-Linked 2	43
1345		MRG013	Mirage Syndrome	43
1346		ACD008	Acid-Labile Subunit Deficiency	43
1347	P	PRV002	Periventricular Nodular Heterotopia	43
1348	P	ANL018	Analbuminemia	43
1349	P	SDR003	Sideroblastic Anemia	43
1350		GLB021	Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies	43
1351	c	SPN305	Spinocerebellar Ataxia 11	43
1352		HRT030	Hartsfield Syndrome	43
1353	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	43
1354		ASP005	Asphyxiating Thoracic Dystrophy	43
1355	P	DNR001	Duane Retraction Syndrome	43
1356	c	PRK082	Porokeratosis 1, Multiple Types	43
1357		VNS013	Venous Malformations, Multiple Cutaneous and Mucosal	43
1358		WRS002	Warsaw Breakage Syndrome	43
1359	c	HYP543	Hypoplastic Left Heart Syndrome 1	42
1360	c	CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	42
1361	c	HMC009	Hemochromatosis Type 2	42
1362	P	VTL001	Vitelliform Macular Dystrophy	42
1363	c	AMY090	Amyotrophic Lateral Sclerosis 8	42
1364		PRP056	Porphyria, Acute Hepatic	42
1365	P	JVN007	Juvenile Absence Epilepsy	42
1366		HYP806	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	42
1367	P	OPT048	Opitz-Gbbb Syndrome	42
1368	P	HRD012	Hereditary Elliptocytosis	42
1369	P	ART018	Aortic Valve Insufficiency	42
1370		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	42
1371	c	WRB002	Warburg Micro Syndrome 1	42
1372	P	MYF003	Myofibrillar Myopathy	42
1373	c	BRD048	Bardet-Biedl Syndrome 18	42
1374		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	42
1375	c	SPN265	Spinocerebellar Ataxia 36	42
1376	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	42
1377	c	ATS275	Autosomal Recessive Primary Microcephaly	42
1378		RST023	Resting Heart Rate, Variation in	42
1379	c	MCL066	Macular Dystrophy, Vitelliform, 2	42
1380	c	BRD033	Bardet-Biedl Syndrome 13	41
1381		SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	41
1382		HYD058	Hydrops, Lactic Acidosis, and Sideroblastic Anemia	41
1383	c	PLY162	Polyposis Syndrome, Hereditary Mixed, 1	41
1384	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	41
1385		MYP091	Myopathy, Congenital, with Fiber-Type Disproportion	41
1386	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	41
1387	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	41
1388	c	SCL042	Sclerosteosis 2	41
1389	P	SYN012	Synpolydactyly	41
1390	c	FNC032	Fanconi Anemia, Complementation Group B	41
1391	P	PNT019	Pontocerebellar Hypoplasia	41
1392	P	CNG003	Congenital Dyserythropoietic Anemia	41
1393		CRN241	Corneal Dystrophy, Congenital Stromal	41
1394	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	41
1395	P	DYS023	Dyschromatosis Universalis Hereditaria	41
1396	c	OPT050	Opitz Gbbb Syndrome, Type Ii	41
1397	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	41
1398		RBF001	Riboflavin Deficiency	41
1399	c	3MT014	3-Methylglutaconic Aciduria, Type V	41
1400	P	JVN008	Juvenile Glaucoma	41
1401	c	CTR130	Cataract 9, Multiple Types	41
1402	c	USH040	Usher Syndrome, Type Id	41
1403	c	USH039	Usher Syndrome, Type Ic	41
1404	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	41
1405	c	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	41
1406		ART002	Arts Syndrome	41
1407		CHR386	Chromosome 6pter-P24 Deletion Syndrome	40
1408		PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	40
1409	c	BRD020	Bardet-Biedl Syndrome 8	40
1410	c	SPN330	Spondylocostal Dysostosis 5	40
1411	P	CHR637	Choroidal Dystrophy, Central Areolar, 1	40
1412	P	PST059	Pustular Psoriasis	40
1413	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	40
1414		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	40
1415	P	CHR084	Chromosomal Disease	40
1416	c	MCR263	Microphthalmia, Syndromic 1	40
1417	c	SPL034	Split-Hand/foot Malformation 4	40
1418	c	RTN058	Retinitis Pigmentosa 3	40
1419	c	ACT004	Acute Diarrhea	40
1420	c	SPN103	Spinocerebellar Ataxia 31	40
1421	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	40
1422	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	40
1423	c	PNT036	Pontocerebellar Hypoplasia, Type 6	40
1424	c	RTN160	Retinitis Pigmentosa 60	40
1425	c	BRD032	Bardet-Biedl Syndrome 14	40
1426		ATS010	Autosomal Recessive Disease	40
1427	c	GLY098	Glycogen Storage Disease, Type Ixd	40
1428		CRN285	Corneal Dystrophy, Fleck	40
1429	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	40
1430		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	40
1431	c	USH020	Usher Syndrome, Type Iic	40
1432	c	RTN143	Retinitis Pigmentosa 47	40
1433	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	40
1434	P	DWL001	Dowling-Degos Disease	40
1435	c	HMC021	Hemochromatosis, Type 2a	40
1436	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	39
1437	c	SCP001	Sc Phocomelia Syndrome	39
1438	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	39
1439	P	DYS005	Dyslexia	39
1440	c	LBR019	Leber Congenital Amaurosis 9	39
1441	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	39
1442	P	WLL010	Woolly Hair Syndrome	39
1443	c	LNG057	Long Qt Syndrome 13	39
1444	c	RTN043	Retinitis Pigmentosa 13	39
1445	c	PSR017	Psoriasis 2	39
1446		CRB148	Cerebral Creatine Deficiency Syndrome 3	39
1447		HYP110	Hyperproinsulinemia	39
1448		MHR001	Mohr-Tranebjaerg Syndrome	39
1449	P	EPL116	Epileptic Encephalopathy, Childhood-Onset	39
1450	c	HNT004	Huntington Disease-Like 2	39
1451	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	39
1452	c	PRC031	Preeclampsia/eclampsia 1	39
1453		GLC084	Glaucoma, Normal Tension	39
1454		ATS008	Autosomal Dominant Disease	39
1455	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	39
1456		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	39
1457	c	SPH014	Spherocytosis, Type 2	39
1458		NTR018	Neutrophilia, Hereditary	39
1459	c	RTN172	Retinitis Pigmentosa 1	39
1460	P	ATR031	Atrial Septal Defect 4	39
1461		SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	39
1462	P	UVS001	Uv-Sensitive Syndrome	39
1463		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	38
1464	P	MCR241	Microphthalmia, Syndromic 3	38
1465	c	BRD035	Bardet-Biedl Syndrome 15	38
1466	c	AMY067	Amyotrophic Lateral Sclerosis 18	38
1467	c	AMY058	Amyotrophic Lateral Sclerosis 2, Juvenile	38
1468	c	LNG096	Long Qt Syndrome 15	38
1469	c	LBR004	Leber Congenital Amaurosis 1	38
1470		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	38
1471	c	RTN177	Retinitis Pigmentosa 73	38
1472	P	BRN042	Branchiootic Syndrome	38
1473	c	ALB024	Albinism, Ocular, Type I	38
1474	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	38
1475	c	SPL067	Split-Hand/foot Malformation 1	38
1476	c	PSR028	Psoriasis 7	38
1477	c	PSR032	Psoriasis 11	38
1478	c	SPN304	Spinocerebellar Ataxia 8	38
1479	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	38
1480	c	AMY069	Amyotrophic Lateral Sclerosis 21	38
1481	c	GM2005	Gm2-Gangliosidosis, Ab Variant	38
1482	c	PRK090	Parkinson Disease 3, Autosomal Dominant	38
1483	c	RTN142	Retinitis Pigmentosa 38	38
1484	c	ATS393	Autosomal Recessive Cutis Laxa Type I	38
1485		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	38
1486	P	ANT088	Anterior Segment Dysgenesis	38
1487	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	38
1488	c	CTR115	Cataract 16, Multiple Types	38
1489		VNM003	Van Maldergem Syndrome 1	38
1490	c	WRB005	Warburg Micro Syndrome 4	37
1491	P	GNG010	Gangliosidosis Gm2	37
1492		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	37
1493	c	RBN017	Robinow Syndrome, Autosomal Dominant 2	37
1494	P	3MT007	3-Methylglutaconic Aciduria	37
1495	c	GLL038	Galloway-Mowat Syndrome 1	37
1496	c	LKD008	Leukodystrophy, Hypomyelinating, 4	37
1497	c	RTN069	Retinitis Pigmentosa 7	37
1498	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	37
1499	P	SPL061	Split Hand-Foot Malformation	37
1500	c	SPH016	Spherocytosis, Type 4	37
1501		CHR667	Chromosome 3pter-P25 Deletion Syndrome	37
1502	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	37
1503	c	BRC051	Brachydactyly, Type B1	37
1504	c	HYP507	Hypotrichosis 1	37
1505		MYP139	Myopathy, Proximal, and Ophthalmoplegia	37
1506	c	PSR023	Psoriasis 1	37
1507	P	PRT042	Parietal Foramina	37
1508		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	37
1509		BTR002	Beta-Ureidopropionase Deficiency	37
1510		WNC001	Winchester Syndrome	37
1511	c	PSR018	Psoriasis 13	37
1512	c	EPS017	Episodic Ataxia, Type 6	37
1513	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	37
1514	c	CTR118	Cataract 14, Multiple Types	37
1515		EST007	Estrogen Resistance	37
1516	c	CTS045	Cutis Laxa, Autosomal Dominant 1	37
1517	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	37
1518		PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	36
1519	c	MCR124	Microphthalmia, Isolated 1	36
1520		GLY032	Glycosylphosphatidylinositol Deficiency	36
1521	c	AML020	Amelogenesis Imperfecta, Type Iv	36
1522	c	RTN048	Retinitis Pigmentosa 19	36
1523	c	SPL070	Split-Hand/foot Malformation 2	36
1524		PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	36
1525	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	36
1526	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	36
1527	P	ANX007	Anauxetic Dysplasia 1	36
1528	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	36
1529	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	36
1530	c	PRM032	Primary Congenital Glaucoma	36
1531		MND025	Mandibulofacial Dysostosis with Alopecia	36
1532	c	FNC045	Fanconi Anemia, Complementation Group F	36
1533	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	36
1534	c	RTS003	Ritscher-Schinzel Syndrome 1	36
1535	c	RTN050	Retinitis Pigmentosa 20	36
1536	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	36
1537	c	ADM005	Adams-Oliver Syndrome 1	36
1538	c	USH042	Usher Syndrome, Type Ig	36
1539	c	SPH015	Spherocytosis, Type 3	36
1540	c	SPN299	Spinocerebellar Ataxia 20	36
1541	c	CTR170	Cataract 30, Multiple Types	36
1542		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	36
1543		RTC008	Reticulate Acropigmentation of Kitamura	36
1544	P	DXT004	Dextro-Looped Transposition of the Great Arteries	36
1545	c	MCP051	Mucopolysaccharidosis, Type Ix	36
1546	c	USH041	Usher Syndrome, Type if	36
1547		PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	36
1548	c	KNB006	Knobloch Syndrome 1	36
1549		CMP089	Complement Component 6 Deficiency	36
1550	c	SPN094	Spinocerebellar Ataxia 18	36
1551		MYS054	Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency	35
1552	c	LSS006	Lissencephaly 2	35
1553		OGD001	Ogden Syndrome	35
1554		SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	35
1555	c	WRD024	Waardenburg Syndrome, Type 4c	35
1556	c	PNT010	Pontocerebellar Hypoplasia Type 1	35
1557	c	GLC083	Glaucoma 3, Primary Infantile, B	35
1558		ATR013	Atrichia with Papular Lesions	35
1559	c	VTM026	Vitamin D Hydroxylation-Deficient Rickets, Type 1a	35
1560	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	35
1561	c	ATS076	Autosomal Recessive Stickler Syndrome	35
1562	c	HYP559	Hypotrichosis 8	35
1563	P	BRT040	Baraitser-Winter Syndrome	35
1564	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	35
1565		IND012	Indifference to Pain, Congenital, Autosomal Recessive	35
1566		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	35
1567		VTL009	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	35
1568	c	LNG056	Long Qt Syndrome 12	35
1569	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	35
1570	c	CTR098	Cataract 1, Multiple Types	35
1571		NNK001	Nonaka Myopathy	35
1572		PLY068	Polysubstance Abuse	35
1573	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	35
1574	c	SPL033	Split-Hand/foot Malformation 6	35
1575	c	LBR007	Leber Congenital Amaurosis 12	35
1576	c	RTN186	Retinitis Pigmentosa 75	35
1577		EPT021	Epithelial Recurrent Erosion Dystrophy	35
1578		OHD005	Ohdo Syndrome, Sbbys Variant	34
1579	P	VTR010	Vitreoretinochoroidopathy	34
1580	c	TRC078	Trichohepatoenteric Syndrome 2	34
1581		PRM056	Primrose Syndrome	34
1582	c	NNN012	Noonan Syndrome 5	34
1583	c	HMN027	Hemangioma, Capillary Infantile	34
1584	c	RTN055	Retinitis Pigmentosa 26	34
1585	c	GLY023	Glycogen Storage Disease Type 0	34
1586		CLR133	Colorblindness, Partial, Protan Series	34
1587	c	DNR003	Duane Retraction Syndrome 1	34
1588	c	ATS013	Autosomal Recessive Congenital Ichthyosis	34
1589	c	APL023	Aplasia Cutis Congenita, Nonsyndromic	34
1590	P	HYP111	Hyperprolinemia	34
1591	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	34
1592	P	ANT061	Antenatal Bartter Syndrome	34
1593		CHR387	Chromosome Xp21 Deletion Syndrome	34
1594		CRB081	Cerebellar Ataxia, Cayman Type	34
1595	c	RTN165	Retinitis Pigmentosa 68	34
1596		OVR093	Overhydrated Hereditary Stomatocytosis	34
1597	P	CRN233	Corneal Dystrophy, Fuchs Endothelial, 1	34
1598		LGN006	Legionnaire Disease	34
1599	P	GLP001	Geleophysic Dysplasia	34
1600	c	FBR046	Fibrosis of Extraocular Muscles, Congenital, 1	34
1601	c	MCL016	Mucolipidosis Iii Gamma	34
1602		CHR501	Chromosome 17q12 Deletion Syndrome	34
1603		TRM011	Terminal Osseous Dysplasia	34
1604	c	BRD045	Bardet-Biedl Syndrome 19	34
1605		MNC019	Monocarboxylate Transporter 1 Deficiency	34
1606		INF159	Infantile Sialic Acid Storage Disease	34
1607	c	HYP581	Hypotrichosis 6	34
1608	c	RTN149	Retinitis Pigmentosa 42	34
1609	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	34
1610		CHR382	Chromosome 18q Deletion Syndrome	34
1611	c	CNG379	Congenital Disorder of Glycosylation, Type It	34
1612	c	WLF009	Wolfram Syndrome 2	34
1613		HYP276	Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant	34
1614		ATM052	Autoimmune Disease 1	34
1615	c	AML017	Amelogenesis Imperfecta, Type Ib	34
1616	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	34
1617	c	LBR011	Leber Congenital Amaurosis 16	34
1618		SPN331	Spondyloocular Syndrome	33
1619		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	33
1620	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	33
1621	c	RTN090	Retinitis Pigmentosa 55	33
1622	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	33
1623	P	SPS008	Spastic Ataxia	33
1624	c	NML004	Nemaline Myopathy 3	33
1625	c	FML250	Familial Progressive Cardiac Conduction Defect	33
1626	c	CTR141	Cataract 21, Multiple Types	33
1627	P	PRR025	Perrault Syndrome	33
1628	c	INF086	Inflammatory Bowel Disease 3	33
1629	c	HYD060	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	33
1630	c	RTN136	Retinitis Pigmentosa 44	33
1631	c	WRB003	Warburg Micro Syndrome 2	33
1632		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	33
1633	c	GLP003	Geleophysic Dysplasia 1	33
1634	c	MYT027	Myotonia Congenita, Autosomal Dominant	33
1635		MST006	Mast Syndrome	33
1636	c	BRD047	Bardet-Biedl Syndrome 16	33
1637	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	33
1638	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	33
1639	c	AMY085	Amyotrophic Lateral Sclerosis 9	33
1640		GBT001	Gaba-Transaminase Deficiency	33
1641		BRC004	Brachydactyly-Syndactyly Syndrome	33
1642	c	CNG195	Congenital Disorder of Glycosylation, Type Id	33
1643	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	33
1644		SHR059	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	33
1645		KLL014	Kelley-Seegmiller Syndrome	33
1646	P	MYS032	Myosin Storage Myopathy	33
1647		CHR377	Chromosome 10q26 Deletion Syndrome	33
1648	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	33
1649	P	MYS047	Myasthenic Syndrome, Congenital, 1b, Fast-Channel	33
1650	c	RTN133	Retinitis Pigmentosa 43	33
1651		OCC002	Occult Macular Dystrophy	33
1652		GLY094	Glycine Encephalopathy with Normal Serum Glycine	33
1653		HYP540	Hypertension, Diastolic	33
1654	P	BST001	Bestrophinopathy	33
1655	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	32
1656	c	MYP078	Myopathy, Myofibrillar, 3	32
1657	c	RTN131	Retinitis Pigmentosa 27	32
1658	c	GRN050	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	32
1659	P	FNC026	Fanconi Renotubular Syndrome 1	32
1660	c	ACH023	Achromatopsia 4	32
1661		ANT042	Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis	32
1662		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	32
1663	c	AMY088	Amyotrophic Lateral Sclerosis 3	32
1664	c	PRM038	Primary Agammaglobulinemia	32
1665	c	CTR122	Cataract 5, Multiple Types	32
1666	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	32
1667	c	SPN266	Spinocerebellar Ataxia 35	32
1668		GRN051	Granulomatous Disease, Chronic, X-Linked	32
1669	c	AMY059	Amyotrophic Lateral Sclerosis 19	32
1670	P	KNB001	Knobloch Syndrome	32
1671	P	MTP005	Metaphyseal Anadysplasia	32
1672	c	RTN210	Retinitis Pigmentosa 50	32
1673	c	HYP355	Hypothyroidism, Congenital, Nongoitrous, 3	32
1674	c	NNN011	Noonan Syndrome 4	32
1675		FRG010	Fragile X Tremor/ataxia Syndrome	32
1676	c	SPL025	Split-Hand/foot Malformation 5	32
1677	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	32
1678	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	32
1679	P	OCY003	Oocyte Maturation Defect 1	32
1680	P	WRB001	Warburg Micro Syndrome	32
1681	c	WRD010	Waardenburg Syndrome Type 4	32
1682	c	PRX055	Peroxisome Biogenesis Disorder 11a	32
1683	c	PNT037	Pontocerebellar Hypoplasia, Type 3	32
1684	c	AMY083	Amyotrophic Lateral Sclerosis 11	32
1685		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	32
1686	c	RTN062	Retinitis Pigmentosa 33	32
1687		MTC060	Mitochondrial Dna Depletion Syndrome 9	32
1688		AST052	Asthma, Nasal Polyps, and Aspirin Intolerance	31
1689	c	SPN105	Spinocerebellar Ataxia 4	31
1690	c	HRD146	Hereditary Methemoglobinemia	31
1691	c	SPN095	Spinocerebellar Ataxia 19	31
1692		GLT019	Glut1 Deficiency Syndrome 2	31
1693		ATN014	Autoinflammation with Arthritis and Dyskeratosis	31
1694	c	RTN051	Retinitis Pigmentosa 22	31
1695	c	CTR125	Cataract 7	31
1696	c	GLP004	Geleophysic Dysplasia 2	31
1697	c	NML003	Nemaline Myopathy 2	31
1698	c	HMC034	Hemochromatosis, Type 5	31
1699		RGD002	Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal	31
1700	c	RTN134	Retinitis Pigmentosa 40	31
1701	c	WLL036	Weill-Marchesani Syndrome 1	31
1702	c	EPL133	Epilepsy, Juvenile Absence 1	31
1703		ALR002	Al-Raqad Syndrome	31
1704	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	31
1705	P	SNG014	Singleton-Merten Syndrome	31
1706		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	31
1707	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	31
1708		PHS021	Phosphoglycerate Dehydrogenase Deficiency	31
1709	c	CTR145	Cataract 44	31
1710	c	RTN041	Retinitis Pigmentosa 11	31
1711	c	OVR075	Ovarian Dysgenesis 1	31
1712	P	HYP700	Hypomyelinating Leukodystrophy	31
1713	c	AML057	Amelogenesis Imperfecta, Type Iiia	31
1714	c	MYP079	Myopathy, Myofibrillar, 5	31
1715		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	31
1716	c	MCK033	Meckel Syndrome, Type 4	31
1717	c	RTN116	Retinitis Pigmentosa 56	31
1718	c	NML002	Nemaline Myopathy 1	31
1719	P	ENC056	Encephalopathy, Acute, Infection-Induced 4	31
1720	c	NML005	Nemaline Myopathy 4	31
1721	c	HYP562	Hypothyroidism, Congenital, Nongoitrous, 6	31
1722	P	HNN005	Hennekam Lymphangiectasia-Lymphedema Syndrome 1	31
1723	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	31
1724	P	MCR122	Microphthalmia, Isolated 5	31
1725		CLC008	Colchicine Resistance	31
1726	c	LBR005	Leber Congenital Amaurosis 10	31
1727		46X051	46,xy Sex Reversal 1	31
1728	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	31
1729	c	CTR103	Cataract 4, Multiple Types	31
1730	c	AMY057	Amyotrophic Lateral Sclerosis 16, Juvenile	31
1731	c	RTN044	Retinitis Pigmentosa 14	31
1732	c	PCH010	Pachyonychia Congenita 3	31
1733	P	SPC019	Specific Language Impairment	31
1734		CRN212	Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome	31
1735	c	MCR211	Microphthalmia, Isolated 6	31
1736		CLD003	Cold-Induced Sweating Syndrome	31
1737	c	LBR013	Leber Congenital Amaurosis 3	31
1738	c	RTN056	Retinitis Pigmentosa 28	31
1739	c	PNT033	Pontocerebellar Hypoplasia, Type 10	31
1740	c	NNS043	Nonsyndromic Retinitis Pigmentosa	31
1741	c	CTR158	Cataract 37	31
1742	c	ATR022	Atrial Septal Defect 3	30
1743	c	MCK012	Meckel Syndrome, Type 6	30
1744	c	RTN171	Retinitis Pigmentosa 59	30
1745		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	30
1746		ASP024	Asparagine Synthetase Deficiency	30
1747	c	LSS010	Lissencephaly 4	30
1748		PHS022	Phosphoserine Phosphatase Deficiency	30
1749	c	PYR007	Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia	30
1750		OVL001	Ovalocytosis, Southeast Asian	30
1751	c	HYP515	Hypotrichosis 3	30
1752	P	CRN249	Cornea Plana	30
1753	c	RTN150	Retinitis Pigmentosa 10	30
1754	c	MCK030	Meckel Syndrome, Type 7	30
1755	c	KLF004	Kleefstra Syndrome 1	30
1756	P	OTF004	Otofaciocervical Syndrome 1	30
1757	c	HNT011	Huntington Disease-Like 3	30
1758	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	30
1759	c	ATR066	Atrial Septal Defect 2	30
1760	c	LBR018	Leber Congenital Amaurosis 8	30
1761	P	AST055	Asthma-Related Traits 1	30
1762	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	30
1763		ALG027	Al-Gazali-Bakalinova Syndrome	30
1764	c	GLL024	Gallbladder Disease 1	30
1765	c	CCK002	Cockayne Syndrome Type I	30
1766	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	30
1767	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	30
1768		CRD220	Cardiac Valvular Defect, Developmental	30
1769	c	CNG223	Congenital Methemoglobinemia	30
1770	c	RTN047	Retinitis Pigmentosa 18	30
1771	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
1772	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	30
1773	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	30
1774	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	30
1775	c	EPS015	Episodic Ataxia, Type 7	30
1776	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	30
1777	c	THY084	Thyrotoxic Periodic Paralysis 1	30
1778	P	DMN043	Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis	30
1779	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	30
1780		GLM012	Glomuvenous Malformations	30
1781	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	30
1782		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	30
1783	c	RTN068	Retinitis Pigmentosa 6	30
1784	P	XLN007	X-Linked Disease	30
1785	c	SCK009	Seckel Syndrome 1	30
1786	c	EPS037	Episodic Ataxia, Type 4	30
1787	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
1788	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
1789		LPD042	Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency	30
1790		CMB020	Combined Saposin Deficiency	30
1791	c	RTN152	Retinitis Pigmentosa 66	29
1792	c	RTN042	Retinitis Pigmentosa 12	29
1793	c	SRC023	Sarcoidosis 2	29
1794	c	GLY057	Glycogen Storage Disease X	29
1795	c	ALB019	Albinism, Oculocutaneous, Type Iv	29
1796	c	JVN015	Juvenile Huntington Disease	29
1797	c	CTR095	Cataract 8, Multiple Types	29
1798	c	WRD019	Waardenburg Syndrome, Type 4b	29
1799		TNP004	Tn Polyagglutination Syndrome	29
1800	c	MYP080	Myopathy, Myofibrillar, 4	29
1801		CRT045	Creatine Phosphokinase, Elevated Serum	29
1802	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	29
1803		MCR183	Microcephaly-Capillary Malformation Syndrome	29
1804	c	WLL037	Weill-Marchesani Syndrome 2	29
1805		BSL037	Basal Laminar Drusen	29
1806	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	29
1807	c	FRN048	Frontometaphyseal Dysplasia 2	29
1808		RHN013	Rh-Null, Regulator Type	29
1809	c	HRM020	Hermansky-Pudlak Syndrome 10	29
1810	c	GRN049	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	29
1811	c	CCK003	Cockayne Syndrome Type Ii	29
1812	c	BST008	Bestrophinopathy, Autosomal Recessive	29
1813	c	MCR329	Microcephaly, Autosomal Dominant	29
1814		MCR096	Macrocephaly/autism Syndrome	29
1815	c	SCL045	Sclerosteosis 1	29
1816	c	FNC062	Fanconi Anemia, Complementation Group S	29
1817	c	JBR012	Joubert Syndrome 5	29
1818	c	HYD043	Hydrocephalus, Nonsyndromic, Autosomal Recessive 2	29
1819	c	ACQ027	Acquired Cutis Laxa	29
1820	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	29
1821		DRR017	Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies	29
1822	c	ERY062	Erythrokeratodermia Variabilis Et Progressiva 5	29
1823		CRY019	Cryohydrocytosis	29
1824	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	29
1825	c	FNC023	Fanconi Anemia, Complementation Group N	29
1826	c	PNT032	Pontocerebellar Hypoplasia, Type 9	29
1827		VND005	Van Den Ende-Gupta Syndrome	29
1828		GLS018	Glass Syndrome	29
1829	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
1830	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	29
1831		CND011	Cone Dystrophy 3	29
1832	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	29
1833		PRP093	Pierpont Syndrome	29
1834	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	29
1835		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	29
1836	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	29
1837		PHS014	Phosphoglycerate Kinase 1 Deficiency	29
1838	c	BRT039	Baraitser-Winter Syndrome 2	29
1839	c	SCK011	Seckel Syndrome 5	29
1840	c	ICH038	Ichthyosis, Congenital, Autosomal Recessive 3	29
1841	c	FNC028	Fanconi Anemia, Complementation Group L	29
1842		ACR095	Acrofacial Dysostosis, Cincinnati Type	29
1843		MTC029	Mitochondrial Complex V Deficiency, Nuclear Type 1	29
1844	c	RBN008	Rubinstein-Taybi Syndrome 2	29
1845	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	29
1846		WTT002	Witteveen-Kolk Syndrome	29
1847	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	29
1848	c	CRN243	Carney Complex, Type 1	29
1849	P	SPS225	Spastic Paralysis, Infantile-Onset Ascending	29
1850		PRK005	Prekallikrein Deficiency	29
1851	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
1852	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
1853	P	XLN161	X-Linked Chondrodysplasia Punctata	29
1854	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	29
1855		SVN002	Sveinsson Chorioretinal Atrophy	29
1856		STR099	Striatonigral Degeneration, Infantile, Mitochondrial	28
1857	c	INF087	Inflammatory Bowel Disease 4	28
1858		HYP267	Hyperchlorhidrosis, Isolated	28
1859		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	28
1860	c	ICH040	Ichthyosis, Congenital, Autosomal Recessive 4a	28
1861	P	ZMM001	Zimmermann-Laband Syndrome	28
1862		BCH003	Boucher-Neuhauser Syndrome	28
1863		CYN002	Cyanosis, Transient Neonatal	28
1864	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	28
1865	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	28
1866	P	INV008	Invasive Pneumococcal Disease, Recurrent Isolated, 1	28
1867	P	SCH077	Schwannomatosis 1	28
1868	c	USH031	Usher Syndrome, Type Ij	28
1869	c	PNT046	Pontocerebellar Hypoplasia, Type 5	28
1870	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	28
1871	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	28
1872	c	INF041	Infantile-Onset Ascending Hereditary Spastic Paralysis	28
1873	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	28
1874		ATX038	Ataxia and Polyneuropathy, Adult-Onset	28
1875	c	CTR175	Cataract 24	28
1876		HYP674	Hyperostosis Cranialis Interna	28
1877		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	28
1878	c	ACR081	Aicardi-Goutieres Syndrome 6	28
1879	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	28
1880	c	RTN066	Retinitis Pigmentosa 4	28
1881	c	NGH029	Night Blindness, Congenital Stationary, Type 1e	28
1882	c	TRM024	Tremor, Hereditary Essential, 1	28
1883	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	28
1884		ACR004	Acrokeratosis Verruciformis	28
1885	c	CTR132	Cataract 3, Multiple Types	28
1886		LRY022	Laryngoonychocutaneous Syndrome	28
1887	c	ALB015	Albinism, Oculocutaneous, Type V	28
1888	c	PRX060	Peroxisome Biogenesis Disorder 5a	28
1889	c	CRN109	Cranioectodermal Dysplasia 2	28
1890	c	RTN070	Retinitis Pigmentosa 9	28
1891	P	DSB002	Desbuquois Dysplasia	28
1892	c	CNG198	Congenital Disorder of Glycosylation, Type Il	28
1893	c	DYS067	Dystonia 6, Torsion	28
1894	c	RTN052	Retinitis Pigmentosa 23	28
1895	c	LBR016	Leber Congenital Amaurosis 6	28
1896		MTC059	Mitochondrial Dna Depletion Syndrome 5	28
1897		CMB040	Combined D-2- and L-2-Hydroxyglutaric Aciduria	28
1898	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	28
1899	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	28
1900	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	28
1901	c	CTR121	Cataract 25	28
1902		BLR030	Bilirubin, Serum Level of, Quantitative Trait Locus 1	28
1903	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	28
1904	c	RTN064	Retinitis Pigmentosa 35	28
1905	c	GLY017	Glycogen Storage Disease Ic	28
1906		BRW001	Brown-Vialetto-Van Laere Syndrome	28
1907	c	MCL070	Macular Dystrophy, Patterned, 3	28
1908	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	28
1909	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	28
1910	P	SPN202	Spinocerebellar Ataxia, X-Linked 1	28
1911	c	DYS139	Dyschromatosis Universalis Hereditaria 3	28
1912	c	SYN084	Synpolydactyly 1	28
1913		SCR035	Sacral Agenesis with Vertebral Anomalies	28
1914	c	SCK010	Seckel Syndrome 4	28
1915	c	ICH042	Ichthyosis, Congenital, Autosomal Recessive 6	28
1916	c	AGM013	Agammaglobulinemia 1, Autosomal Recessive	28
1917		KPP002	Keppen-Lubinsky Syndrome	28
1918		DRR013	Diarrhea 8, Secretory Sodium, Congenital	28
1919		CMP040	Complement Component 4, Partial Deficiency of	28
1920		CNR014	Cone-Rod Dystrophy 16	28
1921	c	USH030	Usher Syndrome, Type Ik	28
1922	c	NNN021	Noonan Syndrome 8	28
1923	P	RTS001	Ritscher-Schinzel Syndrome	28
1924	c	THY083	Thyrotoxic Periodic Paralysis 2	27
1925	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	27
1926		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	27
1927		SPC026	Specific Granule Deficiency 1	27
1928	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	27
1929	c	SPN383	Spinocerebellar Ataxia 42	27
1930	c	RTN046	Retinitis Pigmentosa 17	27
1931		EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	27
1932	c	ERL012	Early-Onset Glaucoma	27
1933	c	ART112	Arthrogryposis, Distal, Type 10	27
1934	P	LTH003	Lethal Congenital Contracture Syndrome	27
1935	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	27
1936	c	WSK002	Wiskott-Aldrich Syndrome 2	27
1937	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	27
1938	c	CTR174	Cataract 40	27
1939	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	27
1940	c	CHR491	Charcot-Marie-Tooth Disease, Dominant Intermediate a	27
1941	c	PRX053	Peroxisome Biogenesis Disorder 14b	27
1942	c	MCR245	Microphthalmia, Syndromic 8	27
1943		GLL035	Gillessen-Kaesbach-Nishimura Syndrome	27
1944	c	DBT054	Diabetes Mellitus, Insulin-Dependent, 24	27
1945		ALZ030	Alazami Syndrome	27
1946	c	RTN054	Retinitis Pigmentosa 25	27
1947	c	NNN024	Noonan Syndrome 9	27
1948	c	RTN057	Retinitis Pigmentosa 29	27
1949		GLT028	Glutaric Aciduria Iii	27
1950		PYR021	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	27
1951		MLL011	Mullerian Aplasia and Hyperandrogenism	27
1952	c	ACQ047	Acquired Methemoglobinemia	27
1953		CMB017	Combined Oxidative Phosphorylation Deficiency 6	27
1954	c	SPN098	Spinocerebellar Ataxia 25	27
1955	c	PRX056	Peroxisome Biogenesis Disorder 11b	27
1956		MCR237	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive	27
1957	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	27
1958	c	ICH023	Ichthyosis, Acquired	27
1959		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	27
1960		LKD018	Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	27
1961	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	27
1962		MYP097	Myopathy with Lactic Acidosis, Hereditary	27
1963	c	PSD107	Pseudo-Torch Syndrome 2	27
1964	c	RTN129	Retinitis Pigmentosa 49	27
1965	c	CTR124	Cataract 10, Multiple Types	27
1966	c	HYP248	Hyperprolinemia, Type I	27
1967	c	RTN146	Retinitis Pigmentosa 62	27
1968	c	RTN114	Retinitis Pigmentosa 58	27
1969	c	ADM007	Adams-Oliver Syndrome 2	27
1970		RBS005	Ribose 5-Phosphate Isomerase Deficiency	27
1971	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
1972	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	27
1973		TTT001	Tatton-Brown-Rahman Syndrome	27
1974		CRB147	Cerebellofaciodental Syndrome	27
1975	c	PST001	Posterior Myocardial Infarction	27
1976	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	27
1977	c	SPN247	Spinocerebellar Ataxia Type 19/22	27
1978	c	SPN283	Spinocerebellar Ataxia 37	27
1979	c	LBR009	Leber Congenital Amaurosis 14	27
1980	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	27
1981	c	RTN140	Retinitis Pigmentosa 67	27
1982	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	27
1983	c	ANR047	Aniridia 2	27
1984	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	27
1985		PRM206	Premature Aging Syndrome, Penttinen Type	27
1986	c	HYP577	Hypotrichosis 13	27
1987	c	NNS018	Nonsyndromic Paraganglioma	27
1988	c	SPN284	Spinocerebellar Ataxia 38	27
1989	c	CRP022	Carpenter Syndrome 2	27
1990	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	27
1991	c	SNG011	Singleton-Merten Syndrome 1	27
1992	c	CLR091	Ciliary Dyskinesia, Primary, 14	27
1993		BMB001	Bombay Phenotype	27
1994		STL007	Steel Syndrome	26
1995		TKN001	Takenouchi-Kosaki Syndrome	26
1996	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	26
1997	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	26
1998	c	ART104	Arthrogryposis, Distal, Type 5d	26
1999		CHR399	Chromosome 4q21 Deletion Syndrome	26
2000		PRT094	Protoporphyria, Erythropoietic, X-Linked	26
2001	c	INF089	Inflammatory Bowel Disease 6	26
2002	c	INF092	Inflammatory Bowel Disease 9	26
2003		BRN076	Bronchiectasis with or Without Elevated Sweat Chloride 1	26
2004	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	26
2005	c	ACR084	Aicardi-Goutieres Syndrome 7	26
2006	c	AMY074	Amyotrophic Lateral Sclerosis Type 14	26
2007		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	26
2008	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	26
2009	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	26
2010	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	26
2011		JVN012	Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome	26
2012	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	26
2013	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	26
2014	c	NNN025	Noonan Syndrome 10	26
2015	c	MCR352	Microphthalmia, Isolated, with Coloboma 6	26
2016	c	LNG098	Long Qt Syndrome 14	26
2017		MTC088	Mitochondrial Dna Depletion Syndrome 13	26
2018		MYP071	Myopathy Due to Myoadenylate Deaminase Deficiency	26
2019	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	26
2020	c	JBR014	Joubert Syndrome 9	26
2021	c	CNG207	Congenital Disorder of Glycosylation, Type Io	26
2022	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	26
2023	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	26
2024	c	BRC062	Brachydactyly, Type D	26
2025		HRD073	Hereditary Myopathy with Early Respiratory Failure	26
2026	P	ADP010	Adiponectin, Serum Level of, Quantitative Trait Locus 1	26
2027		KRT047	Keratosis Pilaris Atrophicans	26
2028	c	USH044	Usher Syndrome, Type Iiib	26
2029	c	PRX054	Peroxisome Biogenesis Disorder 12a	26
2030	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	26
2031	c	DMN017	Diamond-Blackfan Anemia 10	26
2032	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	26
2033	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	26
2034	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	26
2035	c	AMY063	Amyotrophic Lateral Sclerosis 20	26
2036	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	26
2037		3MC002	3mc Syndrome 1	26
2038	c	SPN372	Spinocerebellar Ataxia 43	26
2039	c	NML006	Nemaline Myopathy 5	26
2040	c	NNN013	Noonan Syndrome 6	26
2041	c	LBR015	Leber Congenital Amaurosis 5	26
2042	c	ADM010	Adams-Oliver Syndrome 5	26
2043	c	PTT029	Pitt-Hopkins-Like Syndrome 1	26
2044	c	AMY089	Amyotrophic Lateral Sclerosis 7	26
2045	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	26
2046	c	HTR009	Heterotaxy, Visceral, 2, Autosomal	26
2047	c	CRN133	Coronary Artery Disease, Autosomal Dominant, 1	26
2048	c	LKD020	Leukodystrophy, Hypomyelinating, 10	26
2049	c	SPH017	Spherocytosis, Type 5	26
2050	c	RTN147	Retinitis Pigmentosa 48	26
2051	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	26
2052	P	TRG016	Trigonocephaly 1	26
2053	c	RHB011	Rhabdoid Tumor Predisposition Syndrome 2	26
2054		HST022	Histiocytoma, Angiomatoid Fibrous	26
2055	c	NNN009	Noonan Syndrome 2	26
2056	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	26
2057	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	26
2058	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
2059	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	26
2060	c	SCH082	Schizophrenia 5	26
2061		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	26
2062		CRN049	Craniolenticulosutural Dysplasia	25
2063	c	CHN018	Chondrodysplasia Punctata 2, X-Linked	25
2064	c	RTN053	Retinitis Pigmentosa 24	25
2065	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
2066	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	25
2067		3MT008	3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	25
2068	c	FRN049	Frontometaphyseal Dysplasia 1	25
2069	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	25
2070	c	LKD022	Leukodystrophy, Hypomyelinating, 13	25
2071	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	25
2072	c	RTN176	Retinitis Pigmentosa 71	25
2073	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	25
2074	c	ALB017	Albinism, Oculocutaneous, Type Vi	25
2075	c	LPR022	Leprosy 2	25
2076	P	PRD037	Periodontal Ehlers-Danlos Syndrome	25
2077	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	25
2078	c	ANG045	Angioedema, Hereditary, Type Iii	25
2079		PGM007	Pigmented Paravenous Chorioretinal Atrophy	25
2080		INC029	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1	25
2081		BRC120	Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes	25
2082	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	25
2083	c	RTN059	Retinitis Pigmentosa 30	25
2084	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	25
2085	c	JBR031	Joubert Syndrome 21	25
2086	c	PRR026	Perrault Syndrome 5	25
2087	c	BRD050	Bardet-Biedl Syndrome 21	25
2088		DGT002	Digital Clubbing, Isolated Congenital	25
2089	c	PLM121	Pulmonary Hypertension, Primary, 4	25
2090	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	25
2091		PRT043	Parietal Foramina with Cleidocranial Dysplasia	25
2092		MTC030	Mitochondrial Complex V Deficiency, Nuclear Type 3	25
2093	c	INF002	Inflammatory Diarrhea	25
2094	c	CCK004	Cockayne Syndrome Type Iii	25
2095		FZL002	Fazio-Londe Disease	25
2096	c	MCL078	Macular Degeneration, Age-Related, 14	25
2097	P	SPN127	Spondyloepimetaphyseal Dysplasia Joint Laxity	25
2098	c	RTN060	Retinitis Pigmentosa 31	25
2099	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	25
2100	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	25
2101	c	RTN169	Retinitis Pigmentosa 70	25
2102	c	PRT059	Parietal Foramina 1	25
2103		ANG049	Angioedema Induced by Ace Inhibitors	25
2104	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
2105	c	PRR020	Perrault Syndrome 1	25
2106		CNZ006	Coenzyme Q10 Deficiency, Primary, 1	25
2107	c	MYC058	Myocardial Infarction 2	25
2108		DMT001	Dimethylglycine Dehydrogenase Deficiency	25
2109	c	PNT039	Pontocerebellar Hypoplasia, Type 7	25
2110	c	STR092	Striatal Degeneration, Autosomal Dominant 2	25
2111	P	FRN033	Frontonasal Dysplasia 2	25
2112	c	DSB005	Desbuquois Dysplasia 2	25
2113		PSD078	Pseudofolliculitis Barbae	25
2114	c	PCH011	Pachyonychia Congenita 4	25
2115	c	KLP008	Klippel-Feil Syndrome 2, Autosomal Recessive	25
2116	c	DMN022	Diamond-Blackfan Anemia 9	25
2117	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
2118		PRM087	Premature Chromatid Separation Trait	25
2119		SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	25
2120	c	DMN021	Diamond-Blackfan Anemia 6	25
2121		CMP094	Complement Component 4b Deficiency	25
2122		PLY110	Polymicrogyria, Bilateral Temporooccipital	25
2123		HMX003	Heme Oxygenase 1 Deficiency	25
2124	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	25
2125	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	25
2126	c	PRT060	Parietal Foramina 2	25
2127	c	FNC048	Fanconi Anemia, Complementation Group O	25
2128		PRT130	Protein Z Deficiency	25
2129	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	25
2130	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	25
2131		CHR366	Chromosome 5p13 Duplication Syndrome	25
2132	c	CTR169	Cataract 29	25
2133	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	25
2134		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	25
2135		SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	24
2136	c	AMY094	Amyotrophic Lateral Sclerosis 5, Juvenile	24
2137		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	24
2138	c	RTN159	Retinitis Pigmentosa 45	24
2139	c	SVR040	Severe Congenital Nemaline Myopathy	24
2140	c	RTN178	Retinitis Pigmentosa 72	24
2141	c	FNC029	Fanconi Anemia, Complementation Group I	24
2142		MTC062	Mitochondrial Dna Depletion Syndrome 2	24
2143	c	MYP106	Myopathy, Myosin Storage, Autosomal Recessive	24
2144		ECT033	Ectopia Lentis Et Pupillae	24
2145	P	BCT020	Bacteremia 2	24
2146		CHR379	Chromosome 15q26-Qter Deletion Syndrome	24
2147	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	24
2148	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	24
2149	c	ERL003	Early Onset Absence Epilepsy	24
2150	P	GRN048	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative	24
2151		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	24
2152	c	CLR090	Ciliary Dyskinesia, Primary, 22	24
2153	c	ART122	Arthrogryposis, Distal, Type 8	24
2154		HYP565	Hypogonadotropic Hypogonadism 3 with or Without Anosmia	24
2155		SCH037	Schinzel-Giedion Midface Retraction Syndrome	24
2156	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	24
2157		LKN008	Leukoencephalopathy, Cystic, Without Megalencephaly	24
2158	c	LKD016	Leukodystrophy, Hypomyelinating, 9	24
2159	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	24
2160		CMP087	Complement Component 7 Deficiency	24
2161	c	ICH050	Ichthyosis, Congenital, Autosomal Recessive 5	24
2162	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	24
2163		ANH003	Anhaptoglobinemia	24
2164	c	PRX065	Peroxisome Biogenesis Disorder 3a	24
2165	c	MRG010	Meier-Gorlin Syndrome 3	24
2166	c	PRX091	Peroxisome Biogenesis Disorder 8a	24
2167	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	24
2168	c	CFF007	Coffin-Siris Syndrome 2	24
2169		ATR088	Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects	24
2170	c	CRS017	Crisponi/cold-Induced Sweating Syndrome 2	24
2171	P	MGL010	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a	24
2172	c	GLL027	Gallbladder Disease 4	24
2173	c	RTN106	Retinitis Pigmentosa 51	24
2174	c	CWD008	Cowden Syndrome 6	24
2175	c	LSS025	Lissencephaly 5	24
2176	c	FBR050	Fibrosis of Extraocular Muscles, Congenital, 2	24
2177		RTN174	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome	24
2178	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	24
2179		VCT005	Vacterl Association, X-Linked, with or Without Hydrocephalus	24
2180		BSL045	Basel-Vanagaite-Smirin-Yosef Syndrome	24
2181	P	HRD144	Hereditary Mixed Polyposis Syndrome	24
2182	c	LTH042	Lethal Congenital Contracture Syndrome 10	24
2183		PRT101	Poretti-Boltshauser Syndrome	24
2184	c	JBR041	Joubert Syndrome 3	24
2185	c	JBR024	Joubert Syndrome 14	24
2186	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	24
2187		LMB069	Lamb-Shaffer Syndrome	24
2188	c	LBR008	Leber Congenital Amaurosis 13	24
2189	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
2190	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	24
2191	c	PTT030	Pitt-Hopkins-Like Syndrome 2	24
2192		WGN007	Wagner Vitreoretinopathy	24
2193		SCL056	Sclerosing Cholangitis, Neonatal	24
2194	c	PRX057	Peroxisome Biogenesis Disorder 4a	24
2195	c	AMY055	Amyotrophic Lateral Sclerosis 17	24
2196	c	RTN190	Retinitis Pigmentosa 76	24
2197	c	KBK003	Kabuki Syndrome 2	24
2198	c	SCK015	Seckel Syndrome 2	24
2199		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	24
2200	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	24
2201		CHN070	Cohen-Gibson Syndrome	24
2202	c	WLL038	Weill-Marchesani Syndrome 3	24
2203		CMB046	Combined Oxidative Phosphorylation Deficiency 11	24
2204	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	24
2205	c	PRG020	Paragangliomas 3	24
2206	c	CRN111	Cranioectodermal Dysplasia 4	24
2207		SZR018	Seizures, Scoliosis, and Macrocephaly Syndrome	24
2208		VCT004	Vacterl Association with Hydrocephalus	24
2209	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	24
2210	c	PRX048	Peroxisome Biogenesis Disorder 10a	24
2211	c	PRX046	Peroxisome Biogenesis Disorder 7a	24
2212		ALK024	Alkuraya-Kucinskas Syndrome	24
2213		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	24
2214		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	24
2215	c	INF075	Inflammatory Bowel Disease 16	24
2216		LCT013	Lactase Deficiency, Congenital	24
2217	P	VTM029	Vitamin D Hydroxylation-Deficient Rickets, Type 1b	24
2218	c	ICH045	Ichthyosis, Congenital, Autosomal Recessive 7	24
2219		CMB045	Combined Oxidative Phosphorylation Deficiency 19	24
2220		FBR094	Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement	24
2221	c	HYP525	Hypotrichosis 2	24
2222	c	THR096	Three M Syndrome 3	24
2223	c	CWD004	Cowden Syndrome 5	24
2224	c	MCR228	Microphthalmia, Syndromic 13	23
2225		ZNC004	Zinc Deficiency, Transient Neonatal	23
2226	c	STS007	Sotos Syndrome 2	23
2227	c	OTF003	Otofaciocervical Syndrome 2	23
2228	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	23
2229	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	23
2230	c	RTN067	Retinitis Pigmentosa 41	23
2231	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	23
2232	P	OVR076	Ovarian Dysgenesis 2	23
2233	c	JBR042	Joubert Syndrome 23	23
2234		MRF019	Marfan Lipodystrophy Syndrome	23
2235	c	CRN209	Cornelia De Lange Syndrome 5	23
2236		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	23
2237		CHR586	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb	23
2238	c	NRC009	Narcolepsy 1	23
2239	c	CLR114	Ciliary Dyskinesia, Primary, 30	23
2240	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	23
2241	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	23
2242	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	23
2243	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	23
2244	c	AMY023	Amyotrophic Lateral Sclerosis Type 6	23
2245	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	23
2246	c	DRR007	Diarrhea 7	23
2247	c	AMY062	Amyotrophic Lateral Sclerosis 12	23
2248	c	RTT008	Rett Syndrome, Congenital Variant	23
2249	c	FNC046	Fanconi Anemia, Complementation Group P	23
2250		SPN208	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	23
2251	c	PLM128	Pulmonary Hypertension, Primary, 2	23
2252	c	LCT011	Lactose Intolerance, Adult Type	23
2253	c	NNN020	Noonan Syndrome 7	23
2254	c	LTH031	Lethal Congenital Contracture Syndrome 6	23
2255		CHT006	Chitayat Syndrome	23
2256	c	INF088	Inflammatory Bowel Disease 5	23
2257	c	MRG015	Meier-Gorlin Syndrome 7	23
2258	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	23
2259	c	WLL040	Weill-Marchesani Syndrome 4	23
2260	c	SMT018	Smith-Mccort Dysplasia 2	23
2261		HYP531	Hypogonadotropic Hypogonadism 4 with or Without Anosmia	23
2262		GRW039	Growth Retardation, Developmental Delay, and Facial Dysmorphism	23
2263	c	WRB004	Warburg Micro Syndrome 3	23
2264	c	CRN120	Corneal Dystrophy, Fuchs Endothelial, 3	23
2265		FNC030	Fanconi Anemia, Complementation Group G	23
2266		STC017	Stickler Syndrome, Type I, Nonsyndromic Ocular	23
2267		SDH011	Sedoheptulokinase Deficiency	23
2268	c	PRX052	Peroxisome Biogenesis Disorder 13a	23
2269	P	FVL006	Foveal Hypoplasia 1	23
2270	c	LKD023	Leukodystrophy, Hypomyelinating, 12	23
2271	c	RTN141	Retinitis Pigmentosa 39	23
2272	c	ATR062	Atrial Septal Defect 1	23
2273		EPL096	Epilepsy, Nocturnal Frontal Lobe, 5	23
2274		SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	23
2275		GRW027	Growth Restriction, Severe, with Distinctive Facies	23
2276		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	23
2277	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	23
2278	c	PNT050	Pontocerebellar Hypoplasia, Type 11	23
2279	c	DMN019	Diamond-Blackfan Anemia 4	23
2280	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	23
2281		CND012	Cone Dystrophy 4	23
2282	P	DYS068	Dystonia 7, Torsion	23
2283		KRT057	Keratosis Follicularis Spinulosa Decalvans, X-Linked	23
2284	c	NGH027	Night Blindness, Congenital Stationary, Type 1c	23
2285	c	DMN024	Diamond-Blackfan Anemia 7	23
2286		MTC078	Mitochondrial Dna Depletion Syndrome 11	23
2287	c	PLM127	Pulmonary Hypertension, Primary, 3	23
2288		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	23
2289	c	NGH010	Night Blindness, Congenital Stationary, Autosomal Dominant 2	23
2290		MTH013	Methylmalonate Semialdehyde Dehydrogenase Deficiency	23
2291	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	23
2292	c	STR040	Stargardt Disease 3	23
2293		BRW008	Brown-Vialetto-Van Laere Syndrome 2	23
2294	c	ART128	Arthrogryposis, Distal, Type 6	23
2295		PYR025	Pyruvate Dehydrogenase E2 Deficiency	23
2296	c	CRN110	Cranioectodermal Dysplasia 3	23
2297	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	23
2298	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	23
2299	c	MCK034	Meckel Syndrome, Type 8	23
2300		LSC003	Luscan-Lumish Syndrome	23
2301		3HY011	3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	23
2302	c	LKD021	Leukodystrophy, Hypomyelinating, 11	23
2303	c	CHR622	Charcot-Marie-Tooth Disease Type 2a2	23
2304		HYP549	Hypogonadotropic Hypogonadism 5 with or Without Anosmia	23
2305	c	MYP119	Myopathy, Myofibrillar, 7	23
2306		ALZ029	Alzheimer Disease Mitochondrial	23
2307		CHR487	Chromosome 8q21.11 Deletion Syndrome	23
2308	c	ALB016	Albinism, Oculocutaneous, Type Vii	23
2309		CMP095	Complement Component 4a Deficiency	23
2310		SHR085	Short-Rib Thoracic Dysplasia 14 with Polydactyly	23
2311	c	BRN128	Branchiootic Syndrome 3	23
2312	c	OGC001	Oguchi Disease 1	23
2313	c	LBR010	Leber Congenital Amaurosis 15	23
2314	c	SPN323	Spinocerebellar Ataxia 41	23
2315	c	ATR023	Atrial Septal Defect 5	23
2316	c	THR069	Three M Syndrome 2	23
2317	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	23
2318	c	NML007	Nemaline Myopathy 6	23
2319	c	RTN144	Retinitis Pigmentosa 61	23
2320		LSS039	Lissencephaly 6 with Microcephaly	23
2321	c	ICH044	Ichthyosis, Congenital, Autosomal Recessive 8	23
2322	c	DRR009	Diarrhea 6	23
2323		HYP552	Hypogonadotropic Hypogonadism 6 with or Without Anosmia	23
2324	P	TRC031	Trichorhinophalangeal Syndrome	23
2325	c	CLR094	Ciliary Dyskinesia, Primary, 28	23
2326	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	23
2327		HYP714	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	23
2328	c	SPN364	Spinocerebellar Ataxia, X-Linked 3	23
2329		PRK066	Parkinsonism with Spasticity, X-Linked	23
2330		CMP041	Complement Factor D Deficiency	23
2331	c	SCK029	Seckel Syndrome 7	23
2332	c	JBR037	Joubert Syndrome 26	23
2333	c	HMC019	Hemochromatosis, Type 2b	23
2334		NTR013	Neutropenia, Nonimmune Chronic Idiopathic, of Adults	23
2335	c	BRC060	Brachydactyly, Type E2	23
2336		DSN002	Desanto-Shinawi Syndrome	23
2337	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	23
2338	c	MCR262	Microphthalmia, Syndromic 4	23
2339		HYP514	Hypogonadotropic Hypogonadism 8 with or Without Anosmia	22
2340	c	PRX043	Peroxisome Biogenesis Disorder 6b	22
2341		YSY001	Yao Syndrome	22
2342	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	22
2343	c	JBR018	Joubert Syndrome 4	22
2344	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	22
2345	c	ANR046	Aniridia 3	22
2346	c	WRD029	Waardenburg Syndrome, Type 2b	22
2347		VNM002	Van Maldergem Syndrome 2	22
2348	c	MCR137	Microphthalmia, Isolated 2	22
2349		CNG437	Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay	22
2350	P	STR101	Striatal Degeneration, Autosomal Dominant 1	22
2351	c	MCL030	Macular Degeneration, Age-Related, 10	22
2352	c	PRX051	Peroxisome Biogenesis Disorder 6a	22
2353	c	DBT093	Diabetes Mellitus, Noninsulin-Dependent, 1	22
2354	c	TRC103	Trichothiodystrophy 5, Nonphotosensitive	22
2355		SHR100	Short-Rib Thoracic Dysplasia 15 with Polydactyly	22
2356	c	CTR166	Cataract 33, Multiple Types	22
2357	c	LTH047	Lethal Congenital Contracture Syndrome 3	22
2358	c	TWN010	Townes-Brocks Syndrome 2	22
2359	c	CWD007	Cowden Syndrome 3	22
2360	c	CHR565	Chromosomal Deletion Syndrome	22
2361	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	22
2362	c	CTR131	Cataract 17, Multiple Types	22
2363	c	RTN166	Retinitis Pigmentosa 69	22
2364	c	EPS014	Episodic Ataxia, Type 3	22
2365	c	SYM022	Symphalangism, Proximal, 1a	22
2366		HYP719	Hyperglycinemia, Lactic Acidosis, and Seizures	22
2367		MYP120	Myopathy, Distal, with Rimmed Vacuoles	22
2368	c	BRC108	Brachydactyly, Type A3	22
2369	c	FBR029	Fibrochondrogenesis 1	22
2370		SHR082	Short Stature, Microcephaly, and Endocrine Dysfunction	22
2371	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	22
2372		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	22
2373		PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	22
2374	c	CFF011	Coffin-Siris Syndrome 6	22
2375	c	BRC052	Brachydactyly, Type B2	22
2376	P	HYP252	Hypochromic Microcytic Anemia with Iron Overload	22
2377	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	22
2378	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	22
2379	c	DYS185	Dystonia 13, Torsion, Autosomal Dominant	22
2380	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	22
2381	c	CRT085	Carotid Intimal Medial Thickness 2	22
2382	c	JBR015	Joubert Syndrome 6	22
2383		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	22
2384		CMB054	Combined Oxidative Phosphorylation Deficiency 23	22
2385	c	PRX050	Peroxisome Biogenesis Disorder 9b	22
2386	c	CRN215	Cornelia De Lange Syndrome 4	22
2387		SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	22
2388	c	MCK014	Meckel Syndrome, Type 5	22
2389	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	22
2390		MCR355	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy	22
2391		MTC094	Mitochondrial Complex Iii Deficiency, Nuclear Type 8	22
2392	c	CNG478	Congenital Diarrhea	22
2393	c	DMN018	Diamond-Blackfan Anemia 5	22
2394	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	22
2395		CMB064	Combined Oxidative Phosphorylation Deficiency 24	22
2396	c	MCL073	Macular Dystrophy, Vitelliform, 1	22
2397	c	HML034	Hemolytic Uremic Syndrome, Atypical 3	22
2398	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	22
2399	c	LSS009	Lissencephaly 3	22
2400		CMB018	Combined Oxidative Phosphorylation Deficiency 7	22
2401		MTC091