Genetic Diseases Category (7648 diseases)

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

#	Family	MCID	Name	MIFTS
1	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	56
2		AMY082	Amyloidosis, Familial Visceral	51
3		FML026	Familial Lipoprotein Lipase Deficiency	49
4	P	FML018	Familial Mediterranean Fever	73
5		FML089	Familial Thoracic Aortic Aneurysm and Dissection	48
6	P	MLT048	Multiple Familial Trichoepithelioma	35
7	P	FML011	Familial Adenomatous Polyposis	71
8	c	FML346	Familial Adenomatous Polyposis 1	67
9	P	SZR006	Seizure Disorder	61
10	c	SZR007	Seizures, Benign Familial Infantile, 3	46
11	c	SCN009	Scn1a-Related Seizure Disorders	8
12	c	PRG126	Progressive Familial Heart Block	50
13	P	HRT035	Heart Block, Congenital	45
14		PRM175	Primary Familial Brain Calcification	44
15	c	CHL132	Cholestasis, Progressive Familial Intrahepatic, 1	54
16	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	40
17	P	HYP607	Hypercholesterolemia, Familial	81
18	P	CND004	Candidiasis	63
19	c	CHL137	Cholestasis, Progressive Familial Intrahepatic, 3	46
20	c	CND037	Candidiasis, Familial, 6	19
21		HYP190	Hypoalphalipoproteinemia, Primary	60
22	P	PRG047	Progressive Familial Intrahepatic Cholestasis	55
23	c	SZR014	Seizures, Benign Familial Infantile, 1	25
24	c	LPD015	Lipodystrophy, Familial Partial, Type 2	60
25	c	PRG042	Progressive Familial Heart Block, Type Ia	59
26	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	46
27	c	LPD019	Lipodystrophy, Partial, Acquired	44
28		BNG006	Benign Familial Neonatal Epilepsy	42
29	c	HYP535	Hypogonadotropic Hypogonadism 7 with or Without Anosmia	57
30	c	HYP763	Hypogonadotropic Hypogonadism 23 Without Anosmia	42
31	c	HYP513	Hypogonadotropic Hypogonadism 1 with or Without Anosmia	42
32	c	HYP548	Hypogonadotropic Hypogonadism 2 with or Without Anosmia	36
33	P	HYP647	Hypogonadotropic Hypogonadism 24 Without Anosmia	32
34	c	HYP531	Hypogonadotropic Hypogonadism 4 with or Without Anosmia	30
35	c	HYP565	Hypogonadotropic Hypogonadism 3 with or Without Anosmia	29
36	c	HYP547	Hypogonadotropic Hypogonadism 12 with or Without Anosmia	27
37	c	HYP514	Hypogonadotropic Hypogonadism 8 with or Without Anosmia	26
38	c	HYP549	Hypogonadotropic Hypogonadism 5 with or Without Anosmia	25
39	c	HYP444	Hypogonadotropic Hypogonadism 9 with or Without Anosmia	25
40	c	HYP817	Hypogonadotropic Hypogonadism 21 with or Without Anosmia	24
41	c	HYP532	Hypogonadotropic Hypogonadism 18 with or Without Anosmia	24
42	c	HYP552	Hypogonadotropic Hypogonadism 6 with or Without Anosmia	24
43	c	HYP511	Hypogonadotropic Hypogonadism 15 with or Without Anosmia	24
44	c	HYP518	Hypogonadotropic Hypogonadism 16 with or Without Anosmia	23
45	c	HYP546	Hypogonadotropic Hypogonadism 20 with or Without Anosmia	23
46	c	HYP820	Hypogonadotropic Hypogonadism 22 with or Without Anosmia	23
47	c	HYP521	Hypogonadotropic Hypogonadism 10 with or Without Anosmia	23
48	c	HYP443	Hypogonadotropic Hypogonadism 13 with or Without Anosmia	23
49	c	HYP522	Hypogonadotropic Hypogonadism 11 with or Without Anosmia	22
50	c	HYP538	Hypogonadotropic Hypogonadism 17 with or Without Anosmia	22
51	c	HYP523	Hypogonadotropic Hypogonadism 14 with or Without Anosmia	22
52	c	HYP557	Hypogonadotropic Hypogonadism 19 with or Without Anosmia	21
53	P	PLY018	Polycythemia	60
54	c	PRM012	Primary Polycythemia	56
55	c	ACQ010	Acquired Polycythemia	39
56	c	ATS209	Autosomal Dominant Secondary Polycythemia	20
57	c	PLY005	Polycythemia Due to Hypoxia	6
58	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	40
59	P	BNG026	Benign Neonatal Seizures	39
60		FTL002	Fatal Familial Insomnia	51
61	P	FML052	Familial Cold Autoinflammatory Syndrome	53
62	P	EPS030	Episodic Kinesigenic Dyskinesia 1	50
63	c	MYC068	Myoclonic Epilepsy of Infancy	37
64	P	EPL198	Epilepsy, Myoclonic Juvenile	32
65	c	EPL210	Epilepsy, Progressive Myoclonic, 6	28
66	c	EPL155	Epilepsy, Progressive Myoclonic, 8	27
67	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	26
68	c	EPL154	Epilepsy, Progressive Myoclonic, 9	24
69	c	EPL134	Epilepsy, Progressive Myoclonic 7	24
70	c	EPS013	Episodic Kinesigenic Dyskinesia 2	23
71	c	EPL188	Epilepsy, Progressive Myoclonic, 10	22
72	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	22
73	c	MYC086	Myoclonic Epilepsy, Juvenile 4	17
74	c	EPL186	Epilepsy, Juvenile Myoclonic 9	16
75	c	MYC085	Myoclonic Epilepsy, Juvenile 3	14
76	c	EPL009	Epilepsy Progressive Myoclonic Type 3	8
77	P	ATT003	Attenuated Familial Adenomatous Polyposis	51
78	c	CHL136	Cholestasis, Progressive Familial Intrahepatic, 2	48
79	c	HMP022	Hemophagocytic Lymphohistiocytosis, Familial, 1	47
80	P	EPL196	Epilepsy, Familial Focal, with Variable Foci 1	35
81	P	FML186	Familial Paroxysmal Nonkinesigenic Dyskinesia	35
82	c	CND034	Candidiasis, Familial, 2	30
83	c	FML157	Familial Male-Limited Precocious Puberty	30
84	c	PRX024	Paroxysmal Nonkinesigenic Dyskinesia 2	18
85		MTR030	Mitral Valve Prolapse, Familial, X-Linked	25
86		RGH011	Right Pulmonary Artery, Anomalous Origin of, Familial	12
87	P	HYP724	Hyperlipoproteinemia, Type Iii	63
88	c	HYP731	Hyperaldosteronism, Familial, Type I	56
89	P	PTT006	Pituitary Adenoma	54
90	c	PTT056	Pituitary Adenoma 1, Multiple Types	53
91	c	PRG043	Progressive Familial Heart Block, Type Ib	41
92	c	CHL143	Cholestasis, Progressive Familial Intrahepatic, 4	36
93	c	PTT061	Pituitary Adenoma 3, Multiple Types	19
94		ABT001	Abetalipoproteinemia	67
95		PRD013	Periodic Fever, Familial, Autosomal Dominant	63
96	c	ALZ056	Alzheimer Disease 3	53
97		CNV018	Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis	35
98	c	ALZ045	Alzheimer Disease 9	27
99	c	ALZ015	Alzheimer Disease 6	24
100	c	ALZ062	Alzheimer Disease 19	24
101	c	ALZ061	Alzheimer Disease 15	19
102	c	ALZ032	Alzheimer Disease 18	18
103	c	ALZ059	Alzheimer Disease 13	17
104	c	ALZ060	Alzheimer Disease 14	15
105	c	ALZ031	Alzheimer Disease 17	15
106	c	ALZ014	Alzheimer Disease 16	14
107	c	FML116	Familial Cold Autoinflammatory Syndrome 1	58
108	P	FML012	Familial Partial Lipodystrophy	52
109	c	HYP768	Hyperlipoproteinemia, Type I	47
110	c	LPD040	Lipodystrophy, Familial Partial, Type 1	43
111		LRY047	Laryngeal Abductor Paralysis	24
112		CNV009	Convulsions Benign Familial Neonatal Dominant Form	18
113	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	62
114	P	HYP050	Hyperinsulinemic Hypoglycemia	55
115	c	LPD021	Lipodystrophy, Familial Partial, Type 3	51
116	P	FML156	Familial Hyperaldosteronism	37
117	c	PRG101	Progressive Familial Heart Block, Type Ii	33
118	P	CHN059	Chondrocalcinosis	48
119		CYL004	Cylindromatosis, Familial	37
120	c	CHN022	Chondrocalcinosis 2	35
121	c	CHN021	Chondrocalcinosis 1	16
122	P	NTR004	Neutropenia	60
123	c	SVR003	Severe Congenital Neutropenia	58
124	c	FML023	Familial Hemiplegic Migraine	50
125	P	HMP006	Hemiplegic Migraine	49
126	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	38
127	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	37
128	c	LPD034	Lipodystrophy, Familial Partial, Type 4	36
129	c	HYP600	Hyperaldosteronism, Familial, Type Ii	35
130	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	32
131	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	28
132	c	LPD036	Lipodystrophy, Familial Partial, Type 6	27
133		HYP766	Hyperbilirubinemia, Transient Familial Neonatal	26
134	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	26
135	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	23
136	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	22
137	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	21
138	c	NTR045	Neutropenia, Chronic Familial	20
139		TMP005	Temporal Epilepsy, Familial	19
140		GNV002	Genu Valgum, St. Helena Familial	12
141	c	ELN001	Elane-Related Neutropenia	6
142		BLS001	Blau Syndrome	59
143	P	PRC038	Precocious Puberty, Male-Limited	47
144		FML063	Familial Glucocorticoid Deficiency	41
145	c	MGR032	Migraine, Familial Hemiplegic, 1	40
146	c	SZR023	Seizures, Benign Familial Neonatal, 2	33
147		BKS003	Beukes Hip Dysplasia	30
148	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	26
149	c	LPD030	Lipodystrophy, Familial Partial, Type 5	25
150	P	EPL164	Epilepsy	72
151	P	ATR011	Atrial Fibrillation	69
152	P	CRB048	Cerebral Cavernous Malformations	63
153	P	CRD132	Cardiac Conduction Defect	63
154	P	HYP069	Hyperparathyroidism	59
155	c	SCN007	Secondary Hyperparathyroidism	55
156	P	PRN026	Porencephaly	48
157	c	BNG023	Benign Familial Infantile Epilepsy	43
158	c	FML001	Familial Atrial Fibrillation	40
159	c	HYP243	Hyperparathyroidism 1	38
160	c	FML084	Familial Porencephaly	31
161	c	FML250	Familial Progressive Cardiac Conduction Defect	30
162	c	ART028	Aortic Aneurysm, Familial Thoracic 4	29
163	c	CRB051	Cerebral Cavernous Malformation, Familial	25
164	c	CND036	Candidiasis, Familial, 4	25
165	P	ACN018	Acne Inversa, Familial, 1	24
166	c	HYP720	Hyperparathyroidism 4	19
167	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	15
168	c	ACQ029	Acquired Porencephaly	13
169	c	KCN020	Kcnt1-Related Epilepsy	5
170	c	DPD002	Depdc5-Related Epilepsy	3
171	c	PRG018	Paragangliomas 1	59
172	P	PRG013	Paraganglioma	58
173	c	HYP740	Hyperlipoproteinemia, Type V	52
174		HMT008	Hematuria, Benign Familial	45
175	P	ADV001	Advanced Sleep Phase Syndrome	37
176	c	NNS018	Nonsyndromic Paraganglioma	28
177		ATY012	Atypical Mycobacteriosis, Familial	27
178		IMM153	Immunodeficiency 51	22
179	c	PRG094	Paragangliomas 5	21
180		MCR031	Macrocephaly, Benign Familial	15
181	P	HYP818	Hypobetalipoproteinemia, Familial, 1	53
182		FML075	Familial Isolated Hyperparathyroidism	45
183	c	HYP290	Hypobetalipoproteinemia, Familial, 2	43
184		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	33
185	c	MGR030	Migraine, Familial Hemiplegic, 2	33
186		HYP744	Hyperpigmentation with or Without Hypopigmentation, Familial Progressive	25
187	c	SZR016	Seizures, Benign Familial Infantile, 2	24
188	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	20
189	c	HYP734	Hypercholesterolemia, Autosomal Dominant, Type B	45
190		DYS182	Dysphasia, Familial Developmental	36
191	P	FML168	Familial Isolated Pituitary Adenoma	28
192	c	BRS088	Breast-Ovarian Cancer, Familial 3	22
193	c	BRS098	Breast-Ovarian Cancer, Familial 4	19
194	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	15
195		FML155	Familial Acute Myeloid Leukemia with Mutated Cebpa	13
196		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	57
197	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	42
198		CPL013	Capillary Malformations, Congenital	38
199	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
200	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	35
201	c	BNG079	Benign Adult Familial Myoclonic Epilepsy	33
202	c	HYP804	Hyperlipidemia, Combined, 1	33
203	c	MTR080	Mitral Valve Prolapse 1	28
204	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	27
205	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	25
206		THM023	Thiemann Disease	21
207	c	MTR077	Mitral Valve Prolapse 2	21
208	c	MTR083	Mitral Valve Prolapse 3	20
209	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	20
210	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	19
211		CPP001	Copper Deficiency, Familial Benign	18
212	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	16
213		CRN069	Corneal Hypesthesia, Familial	15
214		MYL018	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	13
215		OSS006	Ossicular Malformations, Familial	10
216	P	FML279	Familial Isolated Arrhythmogenic Right Ventricular Dysplasia	9
217	P	PLR004	Pleuropulmonary Blastoma	62
218	P	HYP614	Hyperlipidemia, Familial Combined	55
219	c	SZR022	Seizures, Benign Familial Neonatal, 1	40
220	P	HYP599	Hypoparathyroidism, Familial Isolated	40
221		EXD009	Exudative Vitreoretinopathy 2, X-Linked	32
222	c	HYP438	Hyperaldosteronism, Familial, Type Iii	31
223	c	PLR018	Pleuropulmonary Blastoma Type 1	10
224	c	PLR019	Pleuropulmonary Blastoma Type 2	7
225	c	PLR020	Pleuropulmonary Blastoma Type 3	7
226	c	VNT034	Ventricular Fibrillation, Paroxysmal Familial, 1	63
227	P	PMP001	Pemphigus	56
228	c	BNG091	Benign Chronic Pemphigus	54
229		VTM028	Vitamin E, Familial Isolated Deficiency of	52
230	c	BRS110	Breast-Ovarian Cancer, Familial 1	43
231	c	PRX088	Paroxysmal Nonkinesigenic Dyskinesia 1	35
232	c	MYC083	Myoclonic Epilepsy, Familial Infantile	33
233	c	BRS111	Breast-Ovarian Cancer, Familial 2	24
234	c	FML334	Familial Candidiasis	23
235	P	PLM037	Pulmonary Hypertension	77
236	c	PLM164	Pulmonary Hypertension, Primary, 1	70
237	P	ART067	Aortic Aneurysm, Familial Thoracic 1	67
238	P	TMP001	Temporal Lobe Epilepsy	58
239		EWN002	Ewing's Family of Tumors	57
240	P	AMY084	Amyloidosis, Finnish Type	52
241	P	EXD001	Exudative Vitreoretinopathy	50
242	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	49
243	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	49
244	P	PSD003	Pseudohypoaldosteronism	46
245	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	41
246	c	PSD092	Pseudohypoaldosteronism, Type Iie	39
247		ARM004	Aromatase Excess Syndrome	39
248	c	FML117	Familial Cold Autoinflammatory Syndrome 2	37
249	c	PLM127	Pulmonary Hypertension, Primary, 3	35
250	c	EPL128	Epilepsy, Familial Temporal Lobe, 3	32
251	c	PRG021	Paragangliomas 4	31
252	c	PLM128	Pulmonary Hypertension, Primary, 2	30
253	c	PLM121	Pulmonary Hypertension, Primary, 4	28
254		VSC049	Visceral Myopathy, Familial, with External Ophthalmoplegia	24
255	c	EXD010	Exudative Vitreoretinopathy 6	22
256	c	EXD007	Exudative Vitreoretinopathy 3	22
257	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	21
258	c	PSD094	Pseudohypoaldosteronism, Type Iib	21
259	c	EXD012	Exudative Vitreoretinopathy 7	20
260	c	PSD068	Pseudohypoaldosteronism, Type Iic	19
261	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	19
262	c	TRN053	Transient Pseudohypoaldosteronism	19
263		IMM172	Immunodeficiency 34	18
264		DWR023	Dwarfism, Familial, with Muscle Spasms	14
265	c	PLM169	Pulmonary Hypertension, Primary, Autosomal Recessive	14
266	c	HRD010	Hereditary Spastic Paraplegia	68
267	c	ART138	Aortic Aneurysm, Familial Abdominal, 1	66
268	c	MNN043	Meningioma, Familial	63
269	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	56
270	P	FBR031	Febrile Seizures	55
271	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	53
272	P	FML068	Familial Hypocalciuric Hypercalcemia	50
273	c	EPL073	Epilepsy, Nocturnal Frontal Lobe, 1	48
274	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	47
275	P	MYC033	Myoclonus	47
276	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	44
277	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	42
278	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	42
279	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	42
280	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	42
281	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	41
282	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	41
283	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	41
284	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	41
285	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	41
286	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
287	P	ATS011	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	40
288	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	40
289	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	40
290	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	40
291	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	40
292	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	39
293	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	39
294	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	38
295	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	38
296	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	38
297	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	37
298	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	37
299	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	36
300	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
301	P	BNG002	Benign Meningioma	36
302	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	36
303	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	36
304	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	36
305	P	SPS012	Spastic Paraplegia 3a	35
306	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	35
307	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	34
308	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	34
309	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
310	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	34
311	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	33
312	c	SPS039	Spastic Paraplegia 5a	33
313	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	33
314	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
315	c	SPS036	Spastic Paraplegia 3	33
316	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	32
317	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	32
318	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
319	P	ATS382	Autosomal Dominant Tubulointerstitial Kidney Disease	31
320	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	31
321	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	31
322	c	SPS021	Spastic Paraplegia 10	30
323	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	30
324	c	EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	30
325	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	29
326	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	29
327	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
328	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	29
329	c	SPS092	Spastic Paraplegia 11	29
330	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	29
331	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	29
332	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	29
333	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	29
334	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	29
335	c	SPS025	Spastic Paraplegia 15	28
336	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	28
337	c	FML347	Familial Adenomatous Polyposis 2	28
338	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	28
339	c	HRD186	Hereditary Spastic Paraplegia 51	28
340	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	27
341	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	27
342	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	27
343	c	MGR031	Migraine, Familial Hemiplegic, 3	27
344	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	27
345	c	SPS027	Spastic Paraplegia 17	27
346	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	27
347	c	TRC095	Trichoepithelioma, Multiple Familial, 1	26
348	c	EPL096	Epilepsy, Nocturnal Frontal Lobe, 5	26
349	c	SPS013	Spastic Paraplegia 8	25
350	c	EPL204	Epilepsy, Nocturnal Frontal Lobe, 4	25
351	c	SPS020	Spastic Paraplegia 1	25
352	c	MYC089	Myoclonus, Familial, 1	24
353	c	SPS023	Spastic Paraplegia 13	24
354	c	FBR072	Febrile Seizures, Familial, 11	24
355	c	ATS327	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2	23
356	c	SPS042	Spastic Paraplegia 9	23
357	c	SPS037	Spastic Paraplegia 31	22
358		ACN030	Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease	22
359	c	CND025	Candidiasis, Familial, 8	22
360	c	SPS028	Spastic Paraplegia 18	22
361	c	ATS310	Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related	22
362	c	ATS420	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations	22
363	c	ATS419	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations	22
364	c	SPS034	Spastic Paraplegia 26	22
365	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	21
366	c	SPS022	Spastic Paraplegia 12	20
367	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	20
368	c	SPS032	Spastic Paraplegia 24	20
369	c	HRD210	Hereditary Spastic Paraplegia 23	20
370	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	20
371	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	20
372	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	20
373	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	20
374	c	SPS029	Spastic Paraplegia 19	20
375	c	ACN016	Acne Inversa, Familial, 3	19
376	c	SPS035	Spastic Paraplegia 29	19
377	c	SPS033	Spastic Paraplegia 25	19
378	c	SPS038	Spastic Paraplegia 39	19
379	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	19
380	c	SPS080	Spastic Paraplegia 51	19
381	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	19
382	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	18
383	c	SPS026	Spastic Paraplegia 16	18
384	c	EPL202	Epilepsy, Nocturnal Frontal Lobe, 2	18
385	c	SPS161	Spastic Paraplegia 32	18
386	c	HRD188	Hereditary Spastic Paraplegia 72	18
387	c	SZR020	Seizures, Benign Familial Infantile, 5	18
388	c	SPS024	Spastic Paraplegia 14	17
389	c	SPS040	Spastic Paraplegia 5b	15
390	c	SPS230	Spastic Paraplegia Type 49	14
391	c	SPS165	Spastic Paraplegia 47	13
392	c	ATS379	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4	11
393	P	HYP040	Hypospadias	58
394	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	56
395	c	CHL134	Cholestasis, Benign Recurrent Intrahepatic, 1	54
396	P	PRM001	Primary Cutaneous Amyloidosis	44
397	c	EPL115	Epilepsy, Familial Temporal Lobe, 2	38
398	P	GLM015	Glomerulopathy with Fibronectin Deposits 2	32
399	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	31
400		MTC151	Mitochondrial Complex I Deficiency, Nuclear Type 20	29
401		DRM050	Dermographism, Familial	27
402		MYX012	Myxoma, Intracardiac	27
403	c	CRD176	Cardiomyopathy, Familial Restrictive, 1	26
404	P	ARR027	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	26
405	c	FML249	Familial Amyloidosis, Finnish Type	24
406		JNT001	Joint Laxity, Familial	22
407	c	ART105	Aortic Aneurysm, Familial Thoracic 7	21
408	c	CRD098	Cardiomyopathy, Familial Restrictive, 3	18
409		DSC014	Discoid Fibromas, Familial Multiple	17
410	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	17
411		ANR042	Aniridia - Ptosis - Intellectual Disability - Familial Obesity	15
412	c	FML348	Familial Pityriasis Rubra Pilaris	14
413	c	HYP545	Hypospadias 3, Autosomal	11
414	c	PST093	Posterior Hypospadias	11
415		PLM134	Pulmonary Fibrosis, Idiopathic	73
416	P	CNG001	Congenital Myasthenic Syndrome	66
417	c	PRM005	Primary Hyperparathyroidism	60
418	c	LYS021	Loeys-Dietz Syndrome 3	57
419	P	LYS001	Loeys-Dietz Syndrome	57
420	c	LYS019	Loeys-Dietz Syndrome 1	57
421	P	SCK002	Sick Sinus Syndrome	53
422	c	LYS017	Loeys-Dietz Syndrome 4	48
423	P	OPT070	Optic Nerve Hypoplasia, Bilateral	48
424	c	MYS051	Myasthenic Syndrome, Congenital, 5	47
425	P	PLM025	Pulmonary Venoocclusive Disease	47
426		CMP012	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	46
427	c	LYS018	Loeys-Dietz Syndrome 2	44
428		MYS061	Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency	44
429		LPM010	Lipomatosis, Multiple Symmetric	43
430	c	MYS078	Myasthenic Syndrome, Congenital, 14	42
431	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	40
432	c	PLM170	Pulmonary Venoocclusive Disease 1, Autosomal Dominant	40
433	c	MYS052	Myasthenic Syndrome, Congenital, 10	39
434		FML307	Familial Calcium Pyrophosphate Deposition	36
435	c	MYS075	Myasthenic Syndrome, Congenital, 13	34
436	c	MYS067	Myasthenic Syndrome, Congenital, 22	30
437	c	PLM167	Pulmonary Venoocclusive Disease 2, Autosomal Recessive	28
438	c	FML213	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form	28
439	c	LYS020	Loeys-Dietz Syndrome 5	27
440	c	MYS076	Myasthenic Syndrome, Congenital, 8	26
441	c	MYS056	Myasthenic Syndrome, Congenital, 17	25
442	c	FML339	Familial Adenomatous Polyposis 4	25
443		VNT032	Ventricular Tachycardia, Familial	25
444	c	MYS074	Myasthenic Syndrome, Congenital, 12	25
445	P	HRZ002	Horizontal Gaze Palsy with Progressive Scoliosis	25
446	c	MYS064	Myasthenic Syndrome, Congenital, 16	25
447	c	SCK017	Sick Sinus Syndrome 1	25
448	P	HYD015	Hydroa Vacciniforme	24
449	c	FML309	Familial Infantile Bilateral Striatal Necrosis	23
450	c	MYS070	Myasthenic Syndrome, Congenital, 19	22
451	c	MYS065	Myasthenic Syndrome, Congenital, 18	22
452	c	MYS077	Myasthenic Syndrome, Congenital, 15	22
453		IMM099	Immunodeficiency 33	21
454	c	SPR070	Sporadic Infantile Bilateral Striatal Necrosis	20
455		FML254	Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion	19
456	c	SCK022	Sick Sinus Syndrome 3	18
457		OST150	Osteodysplasia, Familial, Anderson Type	17
458	c	HYD016	Hydroa Vacciniforme, Familial	10
459	c	OPT030	Optic Nerve Hypoplasia, Familial Bilateral	8
460		UMB003	Umbilicus, Familial Flat	7
461		SHL003	Shoulder Girdle Defect Mental Retardation Familial	3
462	c	EXD008	Exudative Vitreoretinopathy 1	72
463	c	LPM012	Lipomatosis, Multiple	65
464	P	ERY058	Erythrocytosis, Familial, 1	60
465	P	LPM005	Lipomatosis	53
466		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	50
467	c	ERY048	Erythrocytosis, Familial, 2	50
468	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	47
469		PRX015	Paroxysmal Extreme Pain Disorder	46
470		DSM003	Desmoid Disease, Hereditary	46
471		FML036	Familial Periodic Paralysis	45
472	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	44
473	c	STR085	Striatonigral Degeneration, Infantile	41
474	P	STR001	Striatonigral Degeneration	38
475		DHY016	Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema	35
476	c	CHR630	Chorea, Benign Hereditary	35
477	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	35
478	c	GNR039	Generalized Epilepsy with Febrile Seizures Plus, Type 2	31
479	c	EPS039	Episodic Pain Syndrome, Familial, 1	31
480	c	GNR041	Generalized Epilepsy with Febrile Seizures Plus, Type 3	24
481		ESN023	Eosinophilia, Familial	23
482	c	GNR034	Generalized Epilepsy with Febrile Seizures Plus, Type 9	21
483	c	EPL150	Epilepsy, Familial Temporal Lobe, 7	20
484	c	ERY032	Erythrocytosis, Familial, 4	18
485	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	16
486	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	13
487	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	13
488	P	DYS154	Dystonia	65
489	c	ALZ049	Alzheimer Disease 2	60
490	P	ANT006	Antiphospholipid Syndrome	60
491	c	ERL029	Early-Onset, Autosomal Dominant Alzheimer Disease	60
492	P	HYP097	Hyperekplexia	56
493		STT041	Stuttering	55
494	c	DYS056	Dystonia 12	54
495	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	51
496		HRD031	Hereditary Paraganglioma-Pheochromocytoma Syndromes	46
497	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	43
498	c	EPL114	Epilepsy, Familial Temporal Lobe, 1	41
499	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	40
500	P	WLL010	Woolly Hair Syndrome	39
501	c	DYS119	Dystonia 9	38
502		INT304	Interstitial Pneumonitis, Desquamative, Familial	37
503	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	37
504	c	ART071	Aortic Aneurysm, Familial Thoracic 6	34
505		CHR525	Chromosome Xq26.3 Duplication Syndrome	32
506	c	DYS059	Dystonia 16	31
507	P	FML313	Familial Progressive Hyperpigmentation	30
508	P	PRD017	Periodic Paralyses	30
509	c	DYS146	Dystonia 24	29
510	c	TRM024	Tremor, Hereditary Essential, 1	28
511	c	DYS162	Dystonia, Juvenile-Onset	27
512	c	DYS145	Dystonia 23	27
513	c	ANT041	Antiphospholipid Syndrome, Familial	26
514	c	GZP005	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1	24
515	c	DYS151	Dystonia 25	24
516	c	DYS172	Dystonia 27	23
517	c	DYS138	Dystonia 21	22
518	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	22
519	c	HYP510	Hyperekplexia 2	21
520	c	ARR041	Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	21
521	c	HYP825	Hyperekplexia 4	21
522	c	CND033	Candidiasis, Familial, 1	21
523	c	EPL081	Epilepsy, Familial Temporal Lobe, 5	20
524		THY106	Thyroglossal Duct Cyst, Familial	20
525	c	ERY031	Erythrocytosis, Familial, 3	20
526	c	TRM020	Tremor, Hereditary Essential, 2	20
527	c	FBR069	Febrile Seizures, Familial, 4	20
528	c	HYP519	Hyperekplexia 3	19
529	c	WLL035	Woolly Hair, Autosomal Recessive 3	18
530	c	TRM022	Tremor, Hereditary Essential, 5	18
531	c	EPL152	Epilepsy, Familial Temporal Lobe, 8	18
532	c	WLL018	Woolly Hair, Autosomal Dominant	18
533	c	TRM017	Tremor, Hereditary Essential, 4	18
534	c	VNT012	Ventricular Fibrillation, Paroxysmal Familial, 2	17
535	c	FML159	Familial Periodic Paralyses	17
536	c	TRC094	Trichoepithelioma, Multiple Familial, 2	17
537	P	FML048	Familial Avascular Necrosis of the Femoral Head	16
538	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	16
539	P	XNC004	X Inactivation, Familial Skewed, 1	14
540	c	SPR097	Sporadic Hyperekplexia	13
541	c	KMT002	Kmt2b-Related Dystonia	13
542	c	ATS404	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations	12
543	c	TRM016	Tremor, Hereditary Essential, 3	11
544		MLT051	Multiple Fibrofolliculoma Familial	6
545	P	HYP802	Hypocalcemia, Autosomal Dominant 1	66
546	P	HLP001	Holoprosencephaly	65
547	P	AMY004	Amyloidosis	64
548	P	OVR049	Ovarian Disease	63
549	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	60
550	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
551	P	EPS003	Episodic Ataxia	59
552	c	EPS042	Episodic Ataxia, Type 1	58
553	c	EPS035	Episodic Ataxia, Type 2	57
554	c	AMY009	Amyloidosis Aa	55
555	P	FML035	Familial Hyperlipidemia	51
556	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	50
557	c	HLP023	Holoprosencephaly 1	49
558	c	HYP739	Hyperlipoproteinemia, Type Iv	49
559	c	HRD039	Hereditary Amyloidosis	48
560	c	ALZ050	Alzheimer Disease 5	47
561	c	HYP396	Hypercholesterolemia, Autosomal Recessive	47
562	c	HLP024	Holoprosencephaly 2	42
563	c	HLP026	Holoprosencephaly 3	41
564	c	HLP029	Holoprosencephaly 4	40
565	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	40
566	c	EPS017	Episodic Ataxia, Type 6	39
567	P	HYP733	Hypercalciuria, Absorptive, 2	37
568		APL017	Apolipoprotein C-Ii Deficiency	36
569		ASP026	Asplenia, Isolated Congenital	35
570	c	HLP028	Holoprosencephaly 5	34
571	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	32
572	c	EPS037	Episodic Ataxia, Type 4	31
573	c	PRG020	Paragangliomas 3	30
574	c	EPS015	Episodic Ataxia, Type 7	30
575		CRT039	Corticosterone Methyloxidase Type I Deficiency	29
576	c	FML299	Familial Adenomatous Polyposis 3	28
577	c	HLP025	Holoprosencephaly 9	27
578	c	PRG019	Paragangliomas 2	27
579		ISB001	Isobutyryl-Coa Dehydrogenase Deficiency	26
580	P	INT260	Intracranial Berry Aneurysm	25
581		FML206	Familial Cerebral Saccular Aneurysm	25
582	c	SCK014	Sick Sinus Syndrome 2	25
583	c	EPS014	Episodic Ataxia, Type 3	25
584	c	HLP027	Holoprosencephaly 7	24
585	c	HLP016	Holoprosencephaly 11	24
586		DCR009	Dicer1-Related Disorders	24
587	c	EPS034	Episodic Ataxia, Type 5	23
588	c	HYP564	Hypocalcemia, Autosomal Dominant 2	22
589	c	FMR009	Fmr1-Related Primary Ovarian Insufficiency	22
590		FML211	Familial Papillary or Follicular Thyroid Carcinoma	22
591	c	HLP022	Holoprosencephaly 8	21
592		LNT008	Lentiginosis, Inherited Patterned	20
593	c	EPS033	Episodic Ataxia, Type 8	20
594	c	PRM150	Primary Localized Amyloidosis	20
595	c	CND027	Candidiasis, Familial, 3	17
596	c	AHM002	Ah Amyloidosis	16
597	c	NNS019	Nonsyndromic Holoprosencephaly	15
598	c	FCL065	Facial Palsy, Familial Recurrent Peripheral	14
599	c	HLP021	Holoprosencephaly 6	14
600		ADC005	Adcy5-Related Dyskinesia	14
601		GGN006	Gigantiform Cementoma, Familial	13
602	c	SZR025	Seizures, Benign Familial Neonatal, 3	13
603	c	HYP809	Hypercalciuria, Absorptive, 1	13
604	c	FBR067	Febrile Seizures, Familial, 9	13
605	c	SZR024	Seizures, Benign Familial Neonatal, Autosomal Recessive	12
606	c	ANR022	Aneurysm, Intracranial Berry, 4	12
607	c	SZR011	Seizures, Benign Familial Infantile, 4	12
608	c	ANR011	Aneurysm, Intracranial Berry, 2	11
609	c	ANR028	Aneurysm, Intracranial Berry, 3	11
610	c	ART152	Aortic Aneurysm, Familial Abdominal, 3	11
611	c	FBR076	Febrile Seizures, Familial, 7	10
612	c	ANR023	Aneurysm, Intracranial Berry, 7	10
613	c	ANR029	Aneurysm, Intracranial Berry, 6	10
614	c	ANR030	Aneurysm, Intracranial Berry, 8	10
615	c	ANR024	Aneurysm, Intracranial Berry, 9	10
616		SYN087	Synovial Chondromatosis, Familial, with Dwarfism	10
617	c	ANR026	Aneurysm, Intracranial Berry, 5	10
618	c	ANR025	Aneurysm, Intracranial Berry, 10	10
619	c	ANR039	Aneurysm, Intracranial Berry, 11	10
620	P	RCR003	Recurrent Peripheral Facial Palsy	9
621		CBP001	Cebpa-Associated Familial Acute Myeloid Leukemia	8
622		FML086	Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect	7
623		THR043	Thrombomodulin Anomalies, Familial	6
624		FML088	Familial Streblodactyly	5
625	c	OVR070	Ovarian Insufficiency Due to Fsh Resistance	3
626		DSM004	Desmoid Tumor	60
627	c	DYS165	Dysfibrinogenemia, Congenital	40
628	c	CRD219	Cardiomyopathy, Infantile Hypertrophic	31
629		DYS140	Dyskinesia, Familial, with Facial Myokymia	30
630		DGT005	Digital Arthropathy-Brachydactyly, Familial	26
631	c	GNR043	Generalized Epilepsy with Febrile Seizures Plus, Type 7	25
632	c	FML270	Familial Cold Autoinflammatory Syndrome 4	22
633	c	EPS028	Episodic Pain Syndrome, Familial, 3	22
634	c	CRD242	Cardiomyopathy, Familial Hypertrophic 27	21
635	c	ATR059	Atrial Fibrillation, Familial, 11	20
636	c	ATR072	Atrial Fibrillation, Familial, 13	20
637	c	ATR069	Atrial Fibrillation, Familial, 12	19
638	c	ATR068	Atrial Fibrillation, Familial, 14	18
639	c	ERY063	Erythrocytosis, Familial, 5	17
640	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	15
641	c	HYP486	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training	8
642	P	PRK057	Parkinson Disease, Late-Onset	76
643	P	CTC001	Catecholaminergic Polymorphic Ventricular Tachycardia	60
644	c	ESS001	Essential Tremor	59
645	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	56
646	P	HYP076	Hyperthyroidism	55
647	P	CRY007	Cryoglobulinemia, Familial Mixed	54
648		ATR002	Atransferrinemia	50
649	c	ALZ054	Alzheimer Disease 4	50
650	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	48
651	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	48
652	P	MRR011	Mirror Movements 1	47
653	c	ARR046	Arrhythmogenic Right Ventricular Dysplasia, Familial, 2	46
654		FML330	Familial Lcat Deficiency	42
655	c	ERL056	Early-Onset Parkinson's Disease	41
656		PRM237	Primary Hypomagnesemia	39
657	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	39
658	c	PRK025	Parkinson Disease 10	39
659	c	PRK085	Parkinson Disease 1, Autosomal Dominant	36
660	c	TYP024	Type Ii Mixed Cryoglobulinemia	35
661	c	HYP805	Hypercholesterolemia, Autosomal Dominant, 3	35
662		TST023	Testotoxicosis	35
663	P	HYP078	Hypertrophy of Breast	35
664	c	HRD173	Hereditary Late-Onset Parkinson Disease	33
665	c	PRK093	Parkinson Disease 8, Autosomal Dominant	33
666	c	PRK071	Parkinson Disease 14, Autosomal Recessive	31
667	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	31
668		NPP006	Nipples, Supernumerary	30
669	c	PRK065	Parkinson Disease 20, Early-Onset	27
670	P	TTH010	Tooth Agenesis, Selective, 1	26
671	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	26
672	c	PSD093	Pseudohypoaldosteronism, Type Iid	25
673	c	PRK099	Parkinson Disease 18, Autosomal Dominant	25
674	c	PRK052	Parkinson Disease 17	24
675		CD8002	Cd8 Deficiency, Familial	24
676	P	FML340	Familial Episodic Pain Syndrome	24
677	c	TTH013	Tooth Agenesis, Selective, 4	24
678	c	PRK070	Parkinson Disease 21	23
679	c	PRK008	Parkinson Disease Type 9	23
680	c	JVN058	Juvenile-Onset Parkinson's Disease	23
681		HYP344	Hyperthyroidism, Familial Gestational	23
682	c	VNT027	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	23
683	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	23
684		SCP007	Scaphocephaly, Maxillary Retrusion, and Mental Retardation	22
685		GLC043	Glucocorticoid Deficiency 2	22
686	c	FML067	Familial Hyperthyroidism Due to Mutations in Tsh Receptor	22
687	c	ATR061	Atrial Fibrillation, Familial, 10	21
688		HYP279	Hypercholanemia, Familial	21
689	c	ATR038	Atrial Fibrillation, Familial, 3	21
690	c	ATR035	Atrial Fibrillation, Familial, 6	21
691	c	TTH012	Tooth Agenesis, Selective, 3	21
692	c	PRK094	Parkinson Disease 11, Autosomal Dominant	21
693	c	PRK083	Parkinson Disease 22, Autosomal Dominant	20
694	c	ART118	Aortic Aneurysm, Familial Thoracic 9	20
695	c	ADV003	Advanced Sleep Phase Syndrome, Familial, 1	20
696	c	CND031	Candidiasis, Familial, 9	19
697	c	HYP678	Hypertrophy of the Breast, Juvenile	19
698	c	ATR037	Atrial Fibrillation, Familial, 7	19
699	c	ATR092	Atrial Fibrillation, Familial, 15	19
700		CLL041	Collagenoma, Familial Cutaneous	19
701		CRR016	Cirrhosis, Familial	19
702	c	PRK096	Parkinson Disease 13, Autosomal Dominant	19
703	c	PRK098	Parkinson Disease 5, Autosomal Dominant	19
704	c	ATR039	Atrial Fibrillation, Familial, 4	19
705	c	ADV007	Advanced Sleep Phase Syndrome, Familial, 2	19
706	c	ERY064	Erythrocytosis, Familial, 6	19
707	c	PRK022	Parkinson Disease 12	19
708	c	HYP708	Hyperaldosteronism, Familial, Type Iv	19
709	c	PRK058	Parkinson Disease 16	18
710	c	ART107	Aortic Aneurysm, Familial Thoracic 8	18
711	c	LRR001	Lrrk2-Related Parkinson Disease	18
712		GZP006	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development	18
713	c	MRR010	Mirror Movements 2	18
714	c	ATR085	Atrial Fibrillation, Familial, 18	18
715	c	ART133	Aortic Aneurysm, Familial Thoracic 11	17
716	c	TTH011	Tooth Agenesis, Selective, 2	17
717	c	ADV006	Advanced Sleep Phase Syndrome, Familial, 3	16
718	c	TTH025	Tooth Agenesis, Selective, 9	16
719	c	ATR070	Atrial Fibrillation, Familial, 9	16
720	c	TTH027	Tooth Agenesis, Selective, 8	16
721		GLC053	Glucocorticoid Deficiency 3	16
722	c	MRR012	Mirror Movements 3	15
723	c	TTH026	Tooth Agenesis, Selective, 7	15
724	c	MRR015	Mirror Movements 4	14
725	c	TTH017	Tooth Agenesis, Selective, 5	14
726		ABS007	Absent Patella	13
727	c	MXD037	Mixed Cryoglobulinemia Type Iii	12
728	c	HYP333	Hyperlipidemia, Combined, 2	12
729	c	XNC002	X Inactivation, Familial Skewed, 2	10
730	c	CTC003	Catecholaminergic Polymorphic Ventricular Tachycardia 5	7
731	c	VPS003	Vps35-Related Parkinson Disease	6
732		FML160	Familial Spastic Paralysis	6
733	c	SYS001	Systemic Lupus Erythematosus	88
734	c	CHR089	Chronic Kidney Failure	73
735	P	KDN018	Kidney Disease	71
736	P	PLM036	Pulmonary Fibrosis	70
737	P	LPS004	Lupus Erythematosus	69
738	c	ART115	Aortic Valve Disease 1	69
739	c	MGR028	Migraine with or Without Aura 1	69
740	c	WLM013	Wilms Tumor 1	68
741	c	MLT160	Multiple Endocrine Neoplasia, Type Iia	66
742	c	WLM018	Wilms Tumor 5	64
743	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	64
744	c	ART101	Aortic Valve Disease 2	63
745		HYP020	Hyperprolactinemia	63
746	P	MYS005	Myositis	61
747	P	HMN010	Hemangioma	61
748	c	MLT159	Multiple Endocrine Neoplasia, Type Iib	60
749	P	KDN017	Kidney Cancer	59
750	c	VSC019	Vesicoureteral Reflux 1	58
751		GLB001	Gilbert Syndrome	57
752	c	HYD046	Hydatidiform Mole, Recurrent, 1	57
753	P	MLT074	Multiple Endocrine Neoplasia	56
754	P	PMP005	Pemphigus Vulgaris	54
755	c	MLT086	Multiple Endocrine Neoplasia, Type Iv	54
756	c	ACT071	Acute Kidney Failure	54
757	P	INT099	Intrahepatic Cholestasis of Pregnancy	53
758	P	OTS001	Otosclerosis	53
759	c	CNG012	Congenital Generalized Lipodystrophy	52
760	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	51
761		PRP007	Priapism	51
762	c	LPD032	Lipodystrophy, Congenital Generalized, Type 1	50
763	P	ART018	Aortic Valve Insufficiency	49
764		KLN009	Kleine-Levin Hibernation Syndrome	49
765	P	MGR001	Migraine Without Aura	48
766		HRT015	Heritable Pulmonary Arterial Hypertension	48
767		ACH015	Achalasia, Familial Esophageal	48
768		PSD021	Pseudovaginal Perineoscrotal Hypospadias	48
769	P	DYS026	Dysfibrinogenemia	47
770	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	47
771	c	CHL116	Cholestasis, Intrahepatic, of Pregnancy, 1	46
772	c	LPD033	Lipodystrophy, Congenital Generalized, Type 2	43
773		GTR011	Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors	43
774	c	PMP006	Pemphigus Vulgaris, Familial	41
775		BNG018	Benign Paroxysmal Positional Nystagmus	40
776	c	WLM011	Wilms Tumor 6	40
777	P	MYG005	Myoglobinuria	40
778		CLB019	Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly	39
779		ALV006	Alveolar Capillary Dysplasia	39
780		PGM029	Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked	39
781	c	FML297	Familial Thyroid Dyshormonogenesis	39
782		DSQ001	Desquamative Interstitial Pneumonia	38
783	P	HRD009	Hereditary Wilms' Tumor	38
784	c	MYG007	Myoglobinuria, Recurrent	38
785		FBR089	Fibrosclerosis, Multifocal	37
786		FML304	Familial Isolated Dilated Cardiomyopathy	35
787	c	SYS061	Systemic Lupus Erythematosus 16	35
788	c	CHL142	Cholestasis, Intrahepatic, of Pregnancy 3	34
789	c	SYS043	Systemic Lupus Erythematosus 1	34
790		SHR108	Short Stature, Idiopathic, X-Linked	34
791	c	CRN236	Corneal Dystrophy, Lattice Type I	33
792		LPS020	Lipase Deficiency, Combined	33
793		HYP249	Hyperthyroidism, Nonautoimmune	32
794	c	PRV019	Periventricular Nodular Heterotopia 1	32
795	P	PRX010	Paroxysmal Ventricular Fibrillation	32
796	P	THY061	Thyroid Dyshormonogenesis 2a	32
797		ATX019	Ataxia with Vitamin E Deficiency	32
798	c	PRP091	Porphyria Cutanea Tarda, Type I	32
799	P	LTT001	Lattice Corneal Dystrophy	31
800	P	FML284	Familial Vesicoureteral Reflux	31
801	c	PSD090	Pseudohypoaldosteronism, Type Iia	31
802	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	29
803	c	HYP699	Hyperekplexia 1	29
804	c	FML269	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis	28
805	c	THY071	Thyroid Dyshormonogenesis 1	28
806	c	MLG144	Malignant Hemangioma	28
807	c	FML272	Familial Sick Sinus Syndrome	27
808	c	ALZ012	Alzheimer Disease 12	27
809	c	ALZ016	Alzheimer Disease 8	26
810		FML214	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form	26
811		FML215	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	26
812	c	FML324	Familial Porphyria Cutanea Tarda	26
813		CNG114	Congenital Myasthenic Syndrome with Episodic Apnea	26
814	c	THY056	Thyroid Dyshormonogenesis 3	26
815		HYP677	Hyperthyroxinemia, Familial Dysalbuminemic	25
816	c	EPL113	Epilepsy, Familial Temporal Lobe, 4	25
817		FLR007	Failure of Tooth Eruption, Primary	25
818	c	THY063	Thyroid Dyshormonogenesis 4	25
819		HRD207	Hereditary Transthyretin Amyloidosis	25
820		CRT040	Corticosterone Methyloxidase Type Ii Deficiency	25
821		EDC001	Edict Syndrome	24
822	c	CRN160	Corneal Dystrophy, Lattice Type Iiia	24
823		CLL039	Collagenosis, Familial Reactive Perforating	23
824	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	23
825	c	LTT008	Lattice Corneal Dystrophy Type Ii	23
826	c	HYP819	Hyperlipoproteinemia, Type Id	23
827	c	FBR073	Febrile Seizures, Familial, 1	23
828		VLV047	Volvulus of Midgut	23
829	c	ALZ057	Alzheimer Disease 10	22
830	c	ALZ053	Alzheimer Disease 7	22
831	c	OTS005	Otosclerosis 1	22
832	c	PRV018	Periventricular Nodular Heterotopia 7	22
833	c	WLM005	Wilms Tumor 2	22
834		FCT029	Factor V and Factor Viii, Combined Deficiency of, 1	21
835	c	HYD041	Hydatidiform Mole, Recurrent, 2	21
836		FML293	Familial Isolated Restrictive Cardiomyopathy	21
837	c	PRV016	Periventricular Nodular Heterotopia 6	21
838	P	RCR026	Recurrent Hydatidiform Mole	21
839	c	SYS040	Systemic Lupus Erythematosus 10	20
840	c	SYS038	Systemic Lupus Erythematosus 2	20
841		RHZ008	Rhizomelic Syndrome	20
842		CLV014	Calvarial Doughnut Lesions with Bone Fragility	20
843	c	THY110	Thyroid Dyshormonogenesis 6	20
844	c	PRV021	Periventricular Nodular Heterotopia 8	20
845	c	WLM017	Wilms Tumor 4	19
846	c	ARR049	Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	19
847	c	ACQ004	Acquired Hemangioma	19
848	c	ARR047	Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	19
849	c	VSC025	Vesicoureteral Reflux 3	18
850	c	THY062	Thyroid Dyshormonogenesis 5	18
851	c	VSC046	Vesicoureteral Reflux 8	18
852	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
853	c	MGR036	Migraine with or Without Aura 2	18
854	c	FBR075	Febrile Seizures, Familial, 2	17
855	c	SYS069	Systemic Lupus Erythematosus 6	17
856	c	SYS053	Systemic Lupus Erythematosus 5	17
857	c	SYS065	Systemic Lupus Erythematosus 11	17
858	c	OTS012	Otosclerosis 10	16
859	c	MYG006	Myoglobinuria, Autosomal Dominant	16
860	c	MGR023	Migraine Without Aura 4	16
861	c	OTS007	Otosclerosis 3	16
862	c	PLM044	Pulmonary Fibrosis, Familial	16
863	c	MGR024	Migraine with or Without Aura 5	16
864		FML325	Familial Cervical Artery Dissection	16
865	c	MGR038	Migraine with or Without Aura 10	16
866	c	SYS041	Systemic Lupus Erythematosus 9	16
867	c	VSC020	Vesicoureteral Reflux 2	16
868	c	WLM015	Wilms Tumor 3	16
869	c	EPL124	Epilepsy, Familial Temporal Lobe, 6	15
870		ANG063	Angiolipomatosis, Familial	15
871	c	OTS006	Otosclerosis 2	15
872	c	SYS046	Systemic Lupus Erythematosus 3	15
873	c	MGR040	Migraine with or Without Aura 12	15
874	c	FBR074	Febrile Seizures, Familial, 6	15
875	c	OTS010	Otosclerosis 7	15
876	P	SPR076	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis	15
877	c	OTS011	Otosclerosis 8	14
878	c	FBR068	Febrile Seizures, Familial, 10	14
879	c	SYS055	Systemic Lupus Erythematosus 12	14
880	c	MGR022	Migraine with or Without Aura 3	14
881	c	ATS312	Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	14
882	c	FBR071	Febrile Seizures, Familial, 5	14
883	c	MGR042	Migraine with or Without Aura 13	14
884	c	OTS008	Otosclerosis 4	14
885	c	SYS051	Systemic Lupus Erythematosus 4	14
886	c	SYS047	Systemic Lupus Erythematosus 7	14
887	c	MGR039	Migraine with or Without Aura 11	14
888	c	BCT018	Bacterial Myositis	14
889	c	PRV013	Periventricular Nodular Heterotopia 3	13
890	c	VRL025	Viral Myositis	13
891	c	OTS009	Otosclerosis 5	13
892		CMD004	Comedones, Familial Dyskeratotic	12
893	c	AXN008	Axin2-Related Attenuated Familial Adenomatous Polyposis	12
894	c	VSC043	Vesicoureteral Reflux 6	12
895		ERY057	Erythema Nodosum, Familial	12
896		HYP786	Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy	12
897	c	ART151	Aortic Aneurysm, Familial Abdominal, 2	12
898	c	SYS052	Systemic Lupus Erythematosus 13	12
899	c	SYS045	Systemic Lupus Erythematosus 14	12
900	c	SYS048	Systemic Lupus Erythematosus 8	12
901	c	SYS067	Systemic Lupus Erythematosus 15	12
902		FCT027	Factors Viii, Ix and Xi, Combined Deficiency of	12
903		TNG006	Tunglang Savage Bellman Syndrome	12
904	c	RNL016	Renal Infectious Disease	11
905	c	VSC042	Vesicoureteral Reflux 5	11
906	c	MGR037	Migraine with or Without Aura 8	11
907	c	CRD057	Cardiomyopathy, Familial Restrictive, 2	10
908		GNT044	Genetic Atypical Hemolytic-Uremic Syndrome	10
909		FCT025	Factor Vii and Factor Viii, Combined Deficiency of	10
910	c	VSC040	Vesicoureteral Reflux 4	10
911	c	VSC041	Vesicoureteral Reflux 7	10
912	c	RNR002	Ren-Related Kidney Disease	10
913	c	CNG346	Congenital Aortic Valve Insufficiency	10
914		HYP694	Hyperreninemic Hypoaldosteronism, Familial, 2	9
915	c	ADV008	Advanced Sleep Phase Syndrome 2	9
916		NGY001	Nguyen Syndrome	9
917		IMM016	Immune Deficiency, Familial Variable	9
918		FCT028	Factor Ix and Factor Xi, Combined Deficiency of	9
919	c	HYD067	Hydatidiform Mole, Recurrent, 3	9
920	c	HYD068	Hydatidiform Mole, Recurrent, 4	9
921		NFK002	Nf-Kappa B Essential Modulator Deficiency	9
922		FCT026	Factor Viii and Factor Ix, Combined Deficiency of	9
923	P	STT036	Stuttering, Familial Persistent, 3	8
924	c	STT039	Stuttering, Familial Persistent, 4	8
925	c	KDN012	Kidney Carcinoma in Situ	8
926	c	LCL003	Localized Pulmonary Fibrosis	7
927		FML329	Familial Caudal Dysgenesis	6
928	c	OTS004	Otosclerosis, Familial	6
929	c	FML158	Familial Hemangioma	6
930	c	RNL033	Renal Carcinoma, Familial	5
931		LTR010	Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities	5
932	c	MYG002	Myoglobinuria Dominant Form	5
933	c	OVR071	Ovarian Insufficiency, Familial	4
934	c	SZR003	Seizures Benign Familial Neonatal Recessive Form	3
935	P	MTR029	Mitral Valve Prolapse, Familial, Autosomal Dominant	3
936		HYP197	Hypofibrinogenemia, Familial	3
937		FML082	Familial Partial Paralysis	3
938		NPH022	Nephropathy Familial with Hyperuricemia	2
939		NPH020	Nephronophthisis Familial Adult Spastic Quadriparesis	2
940		EPL014	Epilepsy, Partial, Familial	2
941		PLM055	Pulmonary Artery Familial Dilatation	2
942		DST014	Distal Primary Acidosis, Familial	2
943		HYP153	Hypergonadotropic Ovarian Failure, Familial or Sporadic	2
944		NSL012	Nasal Polyposis, Familial	2
945		PLM063	Pulmonary Hypoplasia Familial Primary	2
946		RGH002	Right Atrium Familial Dilatation	2
947	P	HYP750	Hypertriglyceridemia, Familial	58
948		ACT164	Actinic Prurigo	49
949	c	HYP555	Hypertriglyceridemia, Transient Infantile	34
950		ATN012	Autoinflammatory Syndrome, Familial, Behcet-Like	21
951	c	EPL187	Epilepsy, Familial Focal, with Variable Foci 2	19
952	c	EPL192	Epilepsy, Familial Focal, with Variable Foci 3	19
953	c	EPS027	Episodic Pain Syndrome, Familial, 2	17
954		UPN001	Upington Disease	16
955	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	16
956	P	GLL022	Guillain-Barre Syndrome	66
957	P	LNG028	Long Qt Syndrome	66
958	c	LNG044	Long Qt Syndrome 1	64
959		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	62
960	P	BRG001	Brugada Syndrome	61
961	c	LNG047	Long Qt Syndrome 2	56
962		HYP052	Hyperkalemic Periodic Paralysis	54
963	P	PRC019	Precocious Puberty	52
964		CYC008	Cyclic Vomiting Syndrome	52
965	c	CNT075	Central Precocious Puberty	52
966	P	ACQ022	Acquired Generalized Lipodystrophy	51
967	c	LNG048	Long Qt Syndrome 3	50
968		MTY001	Mutyh-Associated Polyposis	49
969	c	BRG005	Brugada Syndrome 1	45
970	c	LNG050	Long Qt Syndrome 5	44
971	c	LNG051	Long Qt Syndrome 6	43
972		LCR013	Lacrimal Duct Defect	41
973	c	LNG053	Long Qt Syndrome 9	41
974	c	LNG057	Long Qt Syndrome 13	40
975	c	GLL037	Guillain-Barre Syndrome, Familial	39
976	c	LNG096	Long Qt Syndrome 15	38
977	P	VRT013	Vertigo, Benign Recurrent	37
978	c	LNG056	Long Qt Syndrome 12	35
979		FML091	Familial Tumoral Calcinosis	33
980		ATS009	Autosomal Genetic Disease	33
981		PPL052	Papillomatosis, Confluent and Reticulated	33
982	c	BRG007	Brugada Syndrome 5	31
983	c	ERY065	Erythrocytosis, Familial, 7	31
984		CNG064	Congenital Chloride Diarrhea	31
985		GLC105	Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency	28
986	c	LNG098	Long Qt Syndrome 14	27
987	c	BRG006	Brugada Syndrome 2	25
988	c	ART134	Aortic Aneurysm, Familial Thoracic 10	23
989	c	PRC047	Precocious Puberty, Central, 1	23
990	c	BRG012	Brugada Syndrome 9	22
991	c	LNG045	Long Qt Syndrome 10	22
992	c	BRG009	Brugada Syndrome 7	21
993	c	PRC046	Precocious Puberty, Central, 2	21
994	P	XLN230	X-Linked Monogenic Disease	20
995	c	EPL220	Epilepsy, Familial Focal, with Variable Foci 4	20
996		FLR003	Florid Cemento-Osseous Dysplasia	20
997	c	BRG003	Brugada Syndrome 3	19
998	c	BRG010	Brugada Syndrome 8	19
999		ANR043	Aniridia and Absent Patella	19
1000	c	BRG004	Brugada Syndrome 4	18
1001	c	LNG046	Long Qt Syndrome 11	18
1002		ANK015	Ankylosing Vertebral Hyperostosis with Tylosis	17
1003	c	BRG008	Brugada Syndrome 6	17
1004		HRS037	Hirschsprung Disease with Type D Brachydactyly	17
1005		ULN021	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	15
1006	c	HYP563	Hyperpigmentation, Familial Progressive, 1	14
1007		VST008	Vestibulocochlear Dysfunction, Progressive	14
1008	c	SCN039	Secondary Central Precocious Puberty	9
1009		ART113	Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability	7
1010	c	VRT008	Vertigo, Benign Recurrent, 2	7
1011	c	YLN002	Y-Linked Monogenic Disease	3
1012	c	HYP595	Hypertension, Essential	81
1013	P	RTN024	Retinoblastoma	72
1014	c	THR092	Thrombophilia Due to Thrombin Defect	69
1015		OVR029	Ovarian Hyperstimulation Syndrome	64
1016	P	KLL001	Kallmann Syndrome	63
1017	c	THR082	Thrombophilia Due to Activated Protein C Resistance	61
1018	P	PTN014	Patent Ductus Arteriosus 1	61
1019		WLF001	Wolff-Parkinson-White Syndrome	61
1020	c	SPN294	Spinocerebellar Ataxia 1	59
1021	P	SPN301	Spinocerebellar Ataxia 2	59
1022	P	LCH002	Lichen Planus	58
1023	P	HYP083	Hypopituitarism	58
1024	P	SHR029	Short Syndrome	57
1025		VTM027	Vitamin D-Dependent Rickets, Type 2a	56
1026	P	THR015	Thrombophilia	56
1027	P	ACT008	Actinic Keratosis	55
1028	P	LFT003	Left Ventricular Noncompaction	55
1029		TTH002	Tooth Agenesis	54
1030		MLT163	Multiple Pterygium Syndrome, Escobar Variant	54
1031	P	NLD001	Nail Disease	54
1032		HYP732	Hyperalphalipoproteinemia 1	53
1033	P	OBS001	Obstructive Jaundice	53
1034	P	DPY001	Dupuytren Contracture	53
1035		IDP024	Idiopathic Inflammatory Myopathy	52
1036	c	SPN314	Spinocerebellar Ataxia 10	51
1037	c	SPN293	Spinocerebellar Ataxia 12	51
1038		DYS022	Dyschromatosis Symmetrica Hereditaria	51
1039	P	BND018	Band Heterotopia	50
1040	P	RNL017	Renal Oncocytoma	50
1041		MCL027	Macular Dystrophy, Dominant Cystoid	50
1042	P	ISL078	Isolated Ectopia Lentis	50
1043	c	MLG069	Malignant Hypertension	50
1044	c	SPN309	Spinocerebellar Ataxia 6	49
1045		BNG009	Benign Epilepsy with Centrotemporal Spikes	49
1046	c	SPN296	Spinocerebellar Ataxia 17	48
1047	c	SPN312	Spinocerebellar Ataxia 14	48
1048		HMZ003	Homozygous Familial Hypercholesterolemia	48
1049	P	KRT005	Keratoacanthoma	48
1050	P	ERY008	Erythromelalgia	48
1051	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	47
1052	c	OPT051	Opitz Gbbb Syndrome, Type I	47
1053	c	SPN100	Spinocerebellar Ataxia 27	46
1054	c	SPN311	Spinocerebellar Ataxia 13	46
1055	c	SPN097	Spinocerebellar Ataxia 23	45
1056	P	CLS010	Cluster Headache	45
1057	P	HRD086	Hereditary Hypophosphatemic Rickets	45
1058	c	OPT050	Opitz Gbbb Syndrome, Type Ii	45
1059	c	SHR030	Short Qt Syndrome	44
1060	c	SPN103	Spinocerebellar Ataxia 31	44
1061	c	CHL118	Cholestasis, Benign Recurrent Intrahepatic, 2	44
1062	c	SPN308	Spinocerebellar Ataxia 28	44
1063	P	ANT088	Anterior Segment Dysgenesis	43
1064	c	VNT010	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	43
1065	c	ANT077	Anterior Segment Dysgenesis 1	43
1066	P	HMF004	Hemifacial Spasm	43
1067	P	ORF002	Orofacial Cleft	43
1068	c	SPN290	Spinocerebellar Ataxia 15	43
1069	c	SPN305	Spinocerebellar Ataxia 11	42
1070	P	FML187	Familial Hypertension	42
1071	c	SPN265	Spinocerebellar Ataxia 36	42
1072	c	CHL140	Chilblain Lupus 1	42
1073	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	42
1074	P	OPT048	Opitz-Gbbb Syndrome	42
1075	c	SPN283	Spinocerebellar Ataxia 37	41
1076	c	SPN304	Spinocerebellar Ataxia 8	41
1077	c	SPN106	Spinocerebellar Ataxia 5	41
1078	c	CLR085	Colorectal Cancer 1	40
1079	P	HYP120	Hypoaldosteronism	40
1080		DFF021	Diffuse Mesangial Sclerosis	40
1081	c	ALZ063	Alzheimer's Disease 1	40
1082	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	39
1083	c	ANT086	Anterior Segment Dysgenesis 2	39
1084		NND010	Nondisjunction	39
1085	c	ANT071	Anterior Segment Dysgenesis 4	39
1086	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	38
1087		PDT014	Pediatric Ependymoma	38
1088		SPN354	Spinal Arachnoiditis	38
1089	c	FML311	Familial Colorectal Cancer Type X	38
1090	c	PRK090	Parkinson Disease 3, Autosomal Dominant	38
1091	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	38
1092		TRN030	Transient Erythroblastopenia of Childhood	37
1093	c	MNS014	Monosomy 22	37
1094	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	37
1095	c	SPN094	Spinocerebellar Ataxia 18	37
1096		BRR012	Berardinelli-Seip Congenital Lipodystrophy	36
1097		VRT007	Vertical Talus, Congenital	36
1098	c	SPR083	Sporadic Hemiplegic Migraine	36
1099	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	35
1100	c	SPN101	Spinocerebellar Ataxia 29	35
1101	c	SPN299	Spinocerebellar Ataxia 20	35
1102	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	35
1103	c	SPN095	Spinocerebellar Ataxia 19	35
1104	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	35
1105	c	VNT029	Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	35
1106	c	SPN247	Spinocerebellar Ataxia Type 19/22	34
1107	c	FML008	Familial Retinoblastoma	34
1108	c	FML294	Familial Short Qt Syndrome	34
1109		FCT034	Factor V and Factor Viii, Combined Deficiency of, 2	34
1110	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	34
1111	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	34
1112	c	SPN266	Spinocerebellar Ataxia 35	34
1113	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	34
1114	c	SPN096	Spinocerebellar Ataxia 21	33
1115	P	GLM006	Glomangioma	33
1116	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	33
1117	c	SPN105	Spinocerebellar Ataxia 4	33
1118	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	33
1119	c	SPN099	Spinocerebellar Ataxia 26	33
1120	c	HRD198	Hereditary Dystonia	32
1121	c	SPN383	Spinocerebellar Ataxia 42	32
1122	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	32
1123	c	ART068	Aortic Aneurysm, Familial Thoracic 2	31
1124	c	SPS091	Spastic Paraplegia 4	31
1125	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	31
1126	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	31
1127	c	SPN284	Spinocerebellar Ataxia 38	31
1128	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	30
1129	c	CLR077	Colorectal Cancer 10	30
1130	P	ACT232	Acute Necrotizing Encephalopathy	30
1131	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	30
1132	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	30
1133	c	ATS270	Autosomal Dominant Café Au Lait Spots	30
1134	c	SPN098	Spinocerebellar Ataxia 25	30
1135		5LP001	5-Alpha Reductase Deficiency	30
1136	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	30
1137	c	LFT021	Left Ventricular Noncompaction 1	30
1138	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	29
1139	P	CRY006	Cryofibrinogenemia	29
1140	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
1141	c	ANT084	Anterior Segment Dysgenesis 3	29
1142	c	MLG039	Malignant Essential Hypertension	29
1143		FML292	Familial Drusen	29
1144		IDP085	Idiopathic Infantile Hypercalcemia	28
1145	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	28
1146	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	28
1147	c	CLR080	Colorectal Cancer 5	28
1148	c	SPN286	Spinocerebellar Ataxia 40	28
1149	c	ANT083	Anterior Segment Dysgenesis 7	28
1150	c	FML306	Familial or Sporadic Hemiplegic Migraine	27
1151	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	27
1152	c	SPN372	Spinocerebellar Ataxia 43	27
1153		CSN001	Cousin Syndrome	27
1154	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	27
1155	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	27
1156	c	ORF027	Orofacial Cleft 11	27
1157	c	ORF048	Orofacial Cleft 1	27
1158	c	BNG021	Benign Essential Hypertension	26
1159	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	26
1160	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	26
1161	c	PRK091	Parkinson Disease 4, Autosomal Dominant	26
1162	c	MYS062	Myasthenic Syndrome, Congenital, 2a, Slow-Channel	26
1163		HYP782	Hypoglycemia, Leucine-Induced	26
1164	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	25
1165		PRF005	Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	25
1166		LPM007	Lipomyelomeningocele	25
1167	c	SPN418	Spinocerebellar Ataxia 44	25
1168		PRR031	Pruritic Urticarial Papules and Plaques of Pregnancy	25
1169	c	HYP311	Hyperparathyroidism 3	25
1170	c	SPN420	Spinocerebellar Ataxia 46	25
1171		HYP693	Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia	25
1172	c	MLG080	Malignant Secondary Hypertension	25
1173	c	SPS041	Spastic Paraplegia 6	25
1174	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	25
1175	c	SPN421	Spinocerebellar Ataxia 47	25
1176	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	25
1177	c	SPN102	Spinocerebellar Ataxia 30	24
1178		ACR034	Acrogeria, Gottron Type	24
1179	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	24
1180	c	SHR032	Short Qt Syndrome 2	24
1181	c	CLR087	Colorectal Cancer 12	24
1182	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	24
1183	c	ANT085	Anterior Segment Dysgenesis 5	24
1184	c	SHR031	Short Qt Syndrome 1	24
1185	c	SPN323	Spinocerebellar Ataxia 41	24
1186	P	FML305	Familial Abdominal Aortic Aneurysm	24
1187	c	SPN427	Spinocerebellar Ataxia 48	24
1188	c	HMF011	Hemifacial Spasm, Familial	24
1189	c	FML223	Familial Keratoacanthoma	23
1190	P	CFL005	Cafe-Au-Lait Spots, Multiple	23
1191		AMN009	Amniotic Band Syndrome	23
1192	c	SPN259	Spinocerebellar Ataxia 32	23
1193	c	MNS008	Monosomy 21	23
1194	c	FML258	Familial Acute Necrotizing Encephalopathy	23
1195	c	ORF028	Orofacial Cleft 10	23
1196		PTR030	Pterygium of Conjunctiva and Cornea	22
1197	c	SPN419	Spinocerebellar Ataxia 45	22
1198	c	HYP163	Hyperlipidemia Type 3	22
1199	c	HYP376	Hypouricemia, Renal, 2	22
1200	P	FML337	Familial Chilblain Lupus	22
1201		DRM041	Dermoid Cysts, Familial Frontonasal	22
1202	c	LFT017	Left Ventricular Noncompaction 8	22
1203	c	SPN107	Spinocerebellar Ataxia 9	22
1204	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	22
1205	P	MNS011	Monosomy 9q22.3	21
1206	c	NLD011	Nail Disorder, Nonsyndromic Congenital, 2	21
1207	c	SHR033	Short Qt Syndrome 3	21
1208	c	ERY067	Erythrocytosis, Familial, 8	21
1209	c	LFT018	Left Ventricular Noncompaction 10	21
1210	c	SCN048	Secondary Syringomyelia	21
1211	c	CLR075	Colorectal Cancer 3	21
1212	c	GNS004	Geniospasm 1	20
1213	c	CHL114	Chilblain Lupus 2	20
1214	c	ATR026	Atrial Fibrillation, Familial, 1	20
1215		LRY046	Laryngeal Web, Familial	20
1216		RTN145	Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis	20
1217	c	SPN431	Spinocerebellar Ataxia, Autosomal Recessive 27	20
1218	c	ORF050	Orofacial Cleft 2	20
1219	c	FLN007	Flna-Related Periventricular Nodular Heterotopia	20
1220	c	ORF049	Orofacial Cleft 3	20
1221	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	20
1222	c	CLR079	Colorectal Cancer 2	20
1223	P	CNG070	Congenital Dislocation of the Patella	19
1224	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	19
1225		HYP187	Hypertryptophanemia	19
1226	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	19
1227	c	THR023	Thrombophilia Due to Thrombomodulin Defect	19
1228	c	ORF047	Orofacial Cleft 15	19
1229		CRT064	Corticosterone Methyloxidase Deficiency	19
1230	c	GLM014	Glomerulopathy with Fibronectin Deposits 1	18
1231		ACN028	Acanthosis Nigricans with Muscle Cramps and Acral Enlargement	18
1232	c	ANT067	Anterior Segment Dysgenesis 8	18
1233	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	18
1234	c	FML028	Familial Renal Oncocytoma	18
1235	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	18
1236	c	ORF014	Orofacial Cleft 5	17
1237		RTN211	Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract	17
1238		RTN078	Retinoschisis of Fovea	17
1239		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	17
1240		WHT018	White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	17
1241	c	ANT087	Anterior Segment Dysgenesis 6	17
1242		SPS047	Spastic Paraplegia with Precocious Puberty	17
1243		MND005	Mondini Dysplasia	17
1244	c	ANR027	Aneurysm, Intracranial Berry, 1	17
1245	c	ACT229	Acute Necrotizing Encephalopathy Type 1	17
1246	c	ORF031	Orofacial Cleft 14	17
1247		CRN258	Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	16
1248	c	LFT020	Left Ventricular Noncompaction 7	16
1249		ZNC006	Zinc, Elevated Plasma	16
1250	c	PRT045	Prothrombin-Related Thrombophilia	16
1251	c	ALZ058	Alzheimer Disease 11	16
1252	c	PTN012	Patent Ductus Arteriosus 3	16
1253		HND005	Hand and Foot Deformity with Flat Facies	16
1254	c	PTN013	Patent Ductus Arteriosus 2	16
1255	c	MGR033	Migraine with or Without Aura 6	16
1256		FLT007	Flotch Syndrome	16
1257	c	ORF020	Orofacial Cleft 12	16
1258	c	ORF016	Orofacial Cleft 8	16
1259	c	ORF023	Orofacial Cleft 4	15
1260	c	CHN023	Chondrocalcinosis Due to Apatite Crystal Deposition	15
1261	c	ORF025	Orofacial Cleft 6	15
1262	c	CLS053	Cluster Headache, Familial	14
1263	c	HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	14
1264	c	ATS413	Autosomal Recessive Anterior Segment Dysgenesis	14
1265	c	CLR083	Colorectal Cancer 8	14
1266	c	ATR027	Atrial Fibrillation, Familial, 5	14
1267	c	CLR082	Colorectal Cancer 7	14
1268	c	CLR081	Colorectal Cancer 6	14
1269		PRP095	Priapism, Familial Idiopathic	14
1270		FML315	Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia	13
1271	c	ATR025	Atrial Fibrillation, Familial, 2	13
1272		CHR648	Chorea, Remitting, with Nystagmus and Cataract	13
1273	P	ALK019	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1	13
1274	c	ORF029	Orofacial Cleft 13	13
1275	c	ORF024	Orofacial Cleft 9	13
1276	c	LFT011	Left Ventricular Noncompaction 2	13
1277	c	KLL008	Kallmann Syndrome 6	13
1278	c	ATR028	Atrial Fibrillation, Familial, 8	13
1279		IDP075	Idiopathic and/or Familial Pulmonary Arterial Hypertension	12
1280	c	SCN066	Secondary Erythromelalgia	12
1281		STR032	Steroid Dehydrogenase Deficiency Dental Anomalies	12
1282	P	HRD194	Hereditary Geniospasm	12
1283		PLM045	Palmer Pagon Syndrome	12
1284	c	FML275	Familial Hypoaldosteronism	12
1285	c	GRD008	Grid2-Related Spinocerebellar Ataxia	12
1286	c	LCH017	Lichen Planus, Familial	12
1287	c	FML196	Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland	12
1288	c	CLR084	Colorectal Cancer 9	11
1289	c	CLR078	Colorectal Cancer 11	11
1290	c	KLL005	Kallmann Syndrome 3	11
1291	c	THR119	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	11
1292		ENT017	Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency	11
1293	c	HYP452	Hypertension, Essential 6	11
1294		ECT009	Ectopia Pupillae	11
1295		ANH005	Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands	11
1296	P	CHR636	Chorea, Benign Familial	11
1297	c	PRM168	Primary Syringomyelia	11
1298		ATR090	Atrophia Maculosa Varioliformis Cutis, Familial	11
1299	c	HYP449	Hypertension, Essential 3	11
1300	c	HYP450	Hypertension, Essential 4	11
1301		ART142	Arteritis, Familial Granulomatous, with Juvenile Polyarthritis	11
1302		FML202	Familial Alzheimer-Like Prion Disease	11
1303	c	KRT070	Keratosis, Familial Actinic	10
1304	c	HYP451	Hypertension, Essential 5	10
1305	c	FML255	Familial Syringomyelia	10
1306	c	MYC090	Myoclonus, Familial, 2	10
1307		ADR055	Adrenocortical Unresponsiveness to Acth with Postreceptor Defect	10
1308		CMP022	Camptodactyly Taurinuria	10
1309		TTR009	Tetralogy of Fallot and Glaucoma	10
1310	c	KLL007	Kallmann Syndrome 5	10
1311		OPH017	Ophthalmoplegia, Familial Total, with Iris Transillumination	10
1312		EPL008	Epilepsy Occipital Calcifications	10
1313	c	HYP448	Hypertension, Essential 2	10
1314	c	HYP453	Hypertension, Essential 7	10
1315	c	HYP454	Hypertension, Essential 8	10
1316	c	HYP447	Hypertension, Essential 1	10
1317	c	FML025	Familial Glomangioma	10
1318		DFN343	Deafness, Congenital, and Familial Myoclonic Epilepsy	10
1319		CHY007	Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase	10
1320		FML079	Familial Nasal Acilia	10
1321		CHR631	Choreoathetosis, Familial Inverted	10
1322		ALZ052	Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology	10
1323		FML336	Familial Patent Arterial Duct	10
1324	c	MRL006	Meralgia Paraesthetica, Familial	10
1325		EDM003	Edema, Familial Idiopathic, Prepubertal	9
1326		OPH016	Ophthalmoplegia, Familial Static	9
1327	c	KLL006	Kallmann Syndrome 4	9
1328		CLC061	Calcific Aortic Disease with Immunologic Abnormalities, Familial	9
1329		CRD227	Cardiac Lipidosis, Familial	9
1330	c	ART108	Aortic Aneurysm, Familial Abdominal, 4	9
1331	P	FML050	Familial Bilateral Striatal Necrosis	9
1332	c	PTL011	Patella, Familial Recurrent Dislocation of	9
1333	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	9
1334	c	HYP799	Hypouricemia, Familial Renal, Due to Tubular Hypersecretion	9
1335		HST021	Histiocytosis, Familial Lipochrome	9
1336		CNC019	Cancer, Familial, with in Vitro Radioresistance	9
1337		CNV019	Convulsive Disorder, Familial, with Prenatal or Early Onset	9
1338		ALP096	Alopecia, Familial Focal	9
1339	c	CRY033	Cryofibrinogenemia, Familial Primary	8
1340		LGL002	Leg Ulcers, Familial, of Juvenile Onset	8
1341	c	FML072	Familial Hypopituitarism	8
1342		IDP082	Idiopathic Ventricular Fibrillation, Non Brugada Type	8
1343		SPR121	Superior Transverse Scapular Ligament, Calcification of, Familial	8
1344		LMB070	Lumbar Stenosis, Familial	8
1345		ANT082	Antithrombin, Familial Hemorrhagic Diathesis Due to	7
1346		MSC143	Muscle Cramps, Familial	7
1347		STT047	Setting-Sun Phenomenon, Familial Benign	7
1348	c	FML094	Familial Wilms Tumor 2	7
1349		MLN068	Melanoma, Malignant Familial Intraocular	7
1350	c	JND003	Jaundice, Familial Obstructive, of Infancy	7
1351	c	BNG034	Benign Secondary Hypertension	7
1352		NSL026	Nasal Hyperpigmentation, Familial Transverse	7
1353		STR098	Striae Distensae, Familial	7
1354		AZT005	Azotemia, Familial	7
1355		MCR339	Macrocytosis, Familial	7
1356		NSL025	Nasal Groove, Familial Transverse	7
1357		MCG001	Mcgillivray Syndrome	6
1358		XLN202	X-Linked Acrogigantism Due to a Point Mutation	6
1359		PCH021	Pachydermodactyly, Familial	6
1360		INS028	Insulin Receptors, Familial Increase in	6
1361		MYK001	Myokymia with Neonatal Epilepsy	6
1362		URT053	Urticaria, Familial Localized Heat	6
1363		CRM011	Cramps, Familial Adolescent	6
1364		BND019	Bundle Branch Block, Familial Isolated Complete Right	6
1365		FVR001	Fever, Familial Lifelong Persistent	6
1366		BRD052	Broad Terminal Phalanges, Familial	6
1367	c	ALK020	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2	6
1368		CRY034	Cryptotia, Familial	6
1369		BLN022	Blue Nevi, Familial Multiple	6
1370		OST166	Osteoma of Cranial Vault, Familial	6
1371	c	RRL001	Rare Lichen Planus	6
1372		BNG066	Benign Familial Mesial Temporal Lobe Epilepsy	6
1373	c	APR002	Aip-Related Familial Isolated Pituitary Adenomas	6
1374		PNC125	Pancreatic Lymphoma, Familial	6
1375		BDH001	Boudhina Yedes Khiari Syndrome	5
1376		FML335	Familial Gastric Type 1 Neuroendocrine Tumor	5
1377		ZRS001	Zori Stalker Williams Syndrome	5
1378	c	FML317	Familial Monosomy 7 Syndrome	5
1379	c	ALK021	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3	5
1380	c	ALK022	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4	5
1381		FML194	Familial Clubfoot with or Without Associated Lower Limb Anomalies	5
1382		ALS004	Alsing Syndrome	5
1383		FML216	Familial Isolated Clinodactyly of Fingers	4
1384	c	FML049	Familial Band Heterotopia	4
1385		FML224	Familial Idiopathic Dilatation of the Right Atrium	4
1386		BRC118	Brachial Palsy, Familial Congenital	4
1387		FRC004	Fara Chlupackova Syndrome	4
1388		LSS038	Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia	4
1389		RGN002	Reginato Shiapachasse Syndrome	4
1390		ADL092	Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome	3
1391		FML051	Familial Capillaro-Venous Leptomeningeal Angiomatosis	3
1392	c	SCN010	Scn9a-Related Inherited Erythromelalgia	3
1393	c	FML226	Familial Dupuytren Contracture	3
1394		FML200	Familial Omphalocele Syndrome with Facial Dysmorphism	3
1395		STL002	Stalker Chitayat Syndrome	3
1396		FML349	Familial Creutzfeld-Jakob Disease	3
1397		FML074	Familial Interstitial Fibrosis	2
1398		FML047	Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension	2
1399	P	PRS040	Prostate Cancer	93
1400	P	DBT026	Diabetes Mellitus, Noninsulin-Dependent	92
1401		MYL069	Myeloma, Multiple	85
1402	P	ATX030	Ataxia-Telangiectasia	82
1403		CYS001	Cystic Fibrosis	82
1404		ESP021	Esophageal Cancer	82
1405		SQM013	Squamous Cell Carcinoma, Head and Neck	82
1406	c	LKM061	Leukemia, Acute Myeloid	81
1407	P	FNC027	Fanconi Anemia, Complementation Group a	81
1408		PFF001	Pfeiffer Syndrome	80
1409		NRL016	Neural Tube Defects	79
1410	P	NNN008	Noonan Syndrome 1	78
1411		KPS004	Kaposi Sarcoma	77
1412	P	SRC025	Sarcoidosis 1	76
1413		PLY001	Polycythemia Vera	75
1414	P	NRF023	Neurofibromatosis, Type Ii	75
1415	P	MLT020	Multiple Sclerosis	75
1416		MRF001	Marfan Syndrome	75
1417	c	HMC039	Hemochromatosis, Type 1	74
1418		PHN003	Phenylketonuria	74
1419		NRF026	Neurofibromatosis, Type Iv, of Riccardi	74
1420		APL001	Aplastic Anemia	74
1421	c	LKM063	Leukemia, Chronic Myeloid	73
1422	P	DBT085	Diabetes Mellitus, Insulin-Dependent	73
1423		IMM106	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked	72
1424	c	HPT073	Hepatitis C Virus	72
1425		VNH007	Von Hippel-Lindau Syndrome	72
1426	c	ATM006	Autoimmune Lymphoproliferative Syndrome	72
1427		ADR007	Adrenoleukodystrophy	71
1428		KWS002	Kawasaki Disease	71
1429	P	TRN020	Turner Syndrome	71
1430	P	AGM001	Agammaglobulinemia	71
1431		FBR012	Fabry Disease	71
1432	P	ALG028	Alagille Syndrome 1	70
1433	P	DMN001	Diamond-Blackfan Anemia	70
1434	P	SPR120	Supranuclear Palsy, Progressive, 1	70
1435	c	HPT016	Hepatitis B	70
1436		MYL009	Myelodysplastic Syndrome	70
1437	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	69
1438		MYL005	Myelofibrosis	69
1439		BRK010	Burkitt Lymphoma	69
1440		APR006	Apert Syndrome	69
1441	P	TYS001	Tay-Sachs Disease	69
1442	c	HPT001	Hepatitis C	69
1443	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	69
1444	P	FRG001	Fragile X Syndrome	69
1445	P	ORT004	Orthostatic Intolerance	69
1446	P	LKM062	Leukemia, Acute Lymphoblastic	68
1447	P	ALC004	Alcohol Abuse	68
1448	c	PRM196	Premature Ovarian Failure 1	68
1449		SMT004	Smith-Lemli-Opitz Syndrome	68
1450	P	PSD087	Pseudoxanthoma Elasticum	68
1451	c	ATS007	Autism Spectrum Disorder	67
1452	P	HYD006	Hydrocephalus	67
1453	P	KRB001	Krabbe Disease	67
1454	c	DNG003	Dengue Disease	67
1455	P	ATS364	Autism	67
1456	P	DYS007	Dyskeratosis Congenita	67
1457		DMN031	Dementia, Lewy Body	67
1458	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
1459	P	ASP006	Aspergillosis	66
1460	c	TBR026	Tuberous Sclerosis 2	66
1461		LWC002	Lowe Oculocerebrorenal Syndrome	66
1462	P	LYN001	Lynch Syndrome	66
1463	c	MCP050	Mucopolysaccharidosis, Type Ii	66
1464	P	GCH001	Gaucher's Disease	66
1465	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	66
1466	c	CHR417	Chronic Graft Versus Host Disease	66
1467	c	GLY008	Glycogen Storage Disease Ii	66
1468	P	KBK002	Kabuki Syndrome 1	66
1469	P	SPN046	Spinal Muscular Atrophy	66
1470		INC021	Incontinentia Pigmenti	66
1471	c	NNN010	Noonan Syndrome 3	65
1472	P	CCK001	Cockayne Syndrome	65
1473	c	GCH015	Gaucher Disease, Type I	65
1474		STH001	Saethre-Chotzen Syndrome	65
1475		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	65
1476	P	THL005	Thalassemia	65
1477	c	MCL062	Mucolipidosis Ii Alpha/beta	64
1478		NRR002	Norrie Disease	64
1479	P	HML033	Hemolytic Uremic Syndrome, Atypical 1	64
1480		CST001	Costello Syndrome	64
1481	P	CRD224	Cardiofaciocutaneous Syndrome 1	64
1482		CRB011	Cerebrotendinous Xanthomatosis	64
1483	P	MSC007	Muscle Hypertrophy	64
1484	c	CNG411	Congenital Disorder of Glycosylation, Type in	64
1485	c	MCP049	Mucopolysaccharidosis, Type Vii	64
1486		TBC004	Tobacco Addiction	64
1487	P	LPR021	Leprosy 3	63
1488		WLL001	Williams-Beuren Syndrome	63
1489	P	SHW006	Shwachman-Diamond Syndrome 1	63
1490		TNG002	Tangier Disease	63
1491		PRP083	Porphyria, Acute Intermittent	63
1492	P	CRN015	Cornelia De Lange Syndrome	63
1493	c	MNN047	Mannosidosis, Alpha B, Lysosomal	63
1494		ALC028	Alacrima, Achalasia, and Mental Retardation Syndrome	62
1495		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	62
1496		LSC001	Lesch-Nyhan Syndrome	62
1497		SDD001	Sudden Infant Death Syndrome	62
1498	P	MCK013	Meckel Syndrome, Type 1	62
1499	P	DNG005	Dengue Virus	62
1500		RFS006	Refsum Disease, Classic	62
1501	P	GLY013	Glycogen Storage Disease	61
1502	P	NMN002	Niemann-Pick Disease	61
1503	P	HYP055	Hypoplastic Left Heart Syndrome	61
1504	P	CRN300	Coronary Heart Disease 1	61
1505		ALP103	Alpha-1-Antitrypsin Deficiency	61
1506	P	MTR004	Maturity-Onset Diabetes of the Young	61
1507		DRR014	Darier-White Disease	61
1508	c	GCH016	Gaucher Disease, Type Ii	61
1509		KLP010	Klippel-Trenaunay-Weber Syndrome	61
1510	c	ATS347	Autosomal Dominant Polycystic Kidney Disease	61
1511		HYP810	Hypereosinophilic Syndrome, Idiopathic	61
1512	P	VNT002	Ventricular Septal Defect	61
1513	P	HRD008	Hereditary Hemorrhagic Telangiectasia	60
1514	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
1515	P	MLG056	Malignant Hyperthermia	60
1516		DNH001	Donohue Syndrome	60
1517		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	60
1518		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	60
1519		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	60
1520	P	WLF004	Wolfram Syndrome	60
1521		LYS012	Lysosomal Acid Lipase Deficiency	60
1522		CNT061	Conotruncal Heart Malformations	60
1523	P	SPN052	Spondyloarthropathy	59
1524		ARG002	Argininosuccinic Aciduria	59
1525		PTR032	Peters-Plus Syndrome	59
1526		NTH001	Netherton Syndrome	59
1527	P	CHL002	Childhood Absence Epilepsy	59
1528		CFF002	Coffin-Lowry Syndrome	59
1529	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	59
1530	c	GLC097	Glaucoma 3, Primary Congenital, a	59
1531	P	NRC002	Narcolepsy	59
1532		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	58
1533	c	ANG068	Angioedema, Hereditary, Type I	58
1534	P	OCL013	Oculodentodigital Dysplasia	58
1535	P	PRM002	Primary Hyperoxaluria	58
1536	c	PRT132	Protoporphyria, Erythropoietic, 1	58
1537	c	FNC042	Fanconi Anemia, Complementation Group D2	58
1538	c	MYT020	Myotonic Dystrophy 2	58
1539	c	NMN016	Niemann-Pick Disease, Type B	58
1540	c	PRX045	Peroxisome Biogenesis Disorder 1b	58
1541	P	ATR010	Atrial Heart Septal Defect	58
1542	c	CRP023	Carpenter Syndrome 1	58
1543		STR039	Sturge-Weber Syndrome	58
1544	c	GCH017	Gaucher Disease, Type Iii	58
1545		HYP730	Hypogonadotropic Hypogonadism	58
1546	c	ACT135	Acute Graft Versus Host Disease	58
1547		GRN051	Granulomatous Disease, Chronic, X-Linked	57
1548	P	ANG015	Angioedema	57
1549	P	AXN002	Axenfeld-Rieger Syndrome	57
1550		EXF001	Exfoliation Syndrome	57
1551	c	RHB024	Rhabdomyosarcoma 2	57
1552	P	ICH004	Ichthyosis	57
1553	P	SLV001	Silver-Russell Syndrome	57
1554		ANN002	Anencephaly	57
1555		CTR172	Citrullinemia, Classic	57
1556	c	CRN139	Cornelia De Lange Syndrome 1	57
1557		PRP082	Porphyria, Congenital Erythropoietic	57
1558		STS003	Sitosterolemia	57
1559	c	ACT075	Acute Myocardial Infarction	57
1560		SMT008	Smith-Magenis Syndrome	57
1561		LCR014	Lacrimoauriculodentodigital Syndrome	57
1562		PRP032	Porphyria Variegata	57
1563	P	VND007	Van Der Woude Syndrome 1	57
1564		CPR004	Coproporphyria, Hereditary	56
1565		FCT001	Factor Viii Deficiency	56
1566		FCT003	Factor X Deficiency	56
1567		OST024	Osteoporosis-Pseudoglioma Syndrome	56
1568		MTC097	Mitochondrial Complex Iv Deficiency	56
1569		CHN055	Chanarin-Dorfman Syndrome	56
1570	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	56
1571	P	STC001	Stickler Syndrome	56
1572	P	ATR001	Atrioventricular Septal Defect	56
1573		GRG001	Greig Cephalopolysyndactyly Syndrome	56
1574		PRT082	Preterm Premature Rupture of the Membranes	55
1575	P	AGG001	Aggressive Periodontitis	55
1576		ASP002	Aspartylglucosaminuria	55
1577	c	CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	55
1578	c	HPT007	Hepatitis E	55
1579	c	WLF013	Wolfram Syndrome 1	55
1580	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
1581		ART002	Arts Syndrome	55
1582	P	HLL001	Hallermann-Streiff Syndrome	55
1583	P	ATS308	Autosomal Dominant Cerebellar Ataxia	55
1584	P	HYD033	Hydrolethalus Syndrome 1	55
1585	c	NNN012	Noonan Syndrome 5	55
1586	P	CRN108	Cranioectodermal Dysplasia 1	55
1587		HRL003	Hurler Syndrome	55
1588		HYP276	Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant	55
1589		GLB021	Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies	54
1590	c	ANM036	Anemia, Sideroblastic, 1	54
1591	P	FNC044	Fanconi Anemia, Complementation Group C	54
1592		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	54
1593	c	BRC078	Brachydactyly, Type A1	54
1594	P	HYP726	Hypercalcemia, Infantile, 1	54
1595		GNR004	Generalized Anxiety Disorder	54
1596	c	CRG004	Crigler-Najjar Syndrome, Type Ii	54
1597	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	54
1598		BRL010	Buruli Ulcer	54
1599	c	LBR014	Leber Congenital Amaurosis 4	54
1600	P	SCK004	Seckel Syndrome	54
1601		MLT135	Multiple Sulfatase Deficiency	54
1602	c	BRC051	Brachydactyly, Type B1	54
1603		ABL002	Ablepharon-Macrostomia Syndrome	53
1604	c	NNN009	Noonan Syndrome 2	53
1605		MCK005	Mckusick-Kaufman Syndrome	53
1606	P	CNG010	Congenital Stationary Night Blindness	53
1607	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
1608		RNP003	Renpenning Syndrome 1	53
1609	c	ART144	Arthrogryposis, Distal, Type 1a	53
1610	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	53
1611		ENH001	Enhanced S-Cone Syndrome	53
1612	P	OPN001	Open-Angle Glaucoma	53
1613	c	SCN036	Secondary Progressive Multiple Sclerosis	53
1614		ACR011	Acromesomelic Dysplasia, Maroteaux Type	53
1615	c	THR045	Thrombotic Thrombocytopenic Purpura, Congenital	53
1616	c	OST163	Osteopetrosis, Autosomal Recessive 3	52
1617	P	ART062	Arthrogryposis, Renal Dysfunction, and Cholestasis 1	52
1618	c	ATM082	Autoimmune Lymphoproliferative Syndrome, Type V	52
1619	c	HPT015	Hepatitis D	52
1620	c	WRD033	Waardenburg Syndrome, Type 2e	52
1621	c	INV001	Invasive Aspergillosis	52
1622	P	ACT010	Acth-Secreting Pituitary Adenoma	52
1623		MTC146	Mitochondrial Complex I Deficiency, Nuclear Type 1	52
1624		RGH009	Right Atrial Isomerism	52
1625	c	ART120	Arthrogryposis, Distal, Type 3	52
1626	c	PRD039	Periodontitis, Aggressive, 1	52
1627	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	52
1628	P	MYP087	Myopathy, Tubular Aggregate, 1	52
1629		DYS192	Dystonia, Dopa-Responsive	52
1630	P	MYT002	Myotonic Dystrophy	52
1631	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
1632	P	VSC013	Visceral Heterotaxy	52
1633	P	MYM013	Moyamoya Disease 1	52
1634	P	EPL116	Epileptic Encephalopathy, Childhood-Onset	52
1635		ALP097	Alopecia Universalis Congenita	52
1636		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	52
1637		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	52
1638		GLC012	Galactosialidosis	52
1639	P	PSD015	Pseudohypoparathyroidism	51
1640		CCH002	Coach Syndrome	51
1641	P	ALT001	Alternating Hemiplegia of Childhood	51
1642		BRT005	Barth Syndrome	51
1643	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	51
1644	c	BRD012	Bardet-Biedl Syndrome 11	51
1645	c	CLR131	Ciliary Dyskinesia, Primary, 1	51
1646	c	PRM108	Primary Progressive Multiple Sclerosis	51
1647	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	51
1648	P	NRB010	Neuroblastoma 1	51
1649		CMP028	Complement Component 2 Deficiency	51
1650	c	PRX059	Peroxisome Biogenesis Disorder 1a	50
1651	P	VNB005	Van Buchem Disease	50
1652		MTC020	Mitochondrial Complex Ii Deficiency	50
1653		GLC004	Galactokinase Deficiency	50
1654	P	BRS053	Breast Fibroadenoma	50
1655	c	ACR116	Aicardi-Goutieres Syndrome 1	50
1656	P	BRC006	Brachydactyly	50
1657	P	INF049	Infantile Myofibromatosis	50
1658		DYG001	Dyggve-Melchior-Clausen Disease	50
1659	P	WLL002	Weill-Marchesani Syndrome	50
1660		FSH001	Fish-Eye Disease	50
1661	c	VNW008	Von Willebrand Disease, Type 3	50
1662	c	CCK007	Cockayne Syndrome B	50
1663	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
1664	P	HYP087	Hypotrichosis	50
1665	c	NML002	Nemaline Myopathy 1	50
1666		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	50
1667	P	GNG025	Gingival Fibromatosis	50
1668	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	50
1669		CTY001	Cat Eye Syndrome	50
1670		RST011	Restrictive Dermopathy, Lethal	50
1671	c	BRC109	Brachydactyly, Type E1	50
1672	P	AFB001	Afibrinogenemia	50
1673	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
1674		CHR101	Char Syndrome	50
1675		DNN001	Danon Disease	50
1676	c	GRN050	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	50
1677	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	49
1678	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	49
1679	P	CLS054	Classic Ehlers-Danlos Syndrome	49
1680		DRR008	Diarrhea 1, Secretory Chloride, Congenital	49
1681		HYP025	Hyperphosphatemia	49
1682		HYP081	Hypolipoproteinemia	49
1683	P	PRX021	Proximal Symphalangism	49
1684	c	ACH041	Achondrogenesis, Type Ii	49
1685	c	CRS016	Crisponi/cold-Induced Sweating Syndrome 1	49
1686		ALL001	Allan-Herndon-Dudley Syndrome	49
1687		BTY001	Butyrylcholinesterase Deficiency	49
1688		PHL006	Phelan-Mcdermid Syndrome	49
1689	c	NRC009	Narcolepsy 1	49
1690	P	NLX004	Neu-Laxova Syndrome 1	49
1691	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
1692	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	49
1693	c	PSR017	Psoriasis 2	49
1694		HYP088	Hyper-Igd Syndrome	49
1695		FRB001	Farber Lipogranulomatosis	49
1696	c	NML003	Nemaline Myopathy 2	49
1697		ORT008	Orotic Aciduria	49
1698	c	GM2006	Gm2 Gangliosidosis	49
1699	c	GRS014	Griscelli Syndrome, Type 2	48
1700	P	NML001	Nemaline Myopathy	48
1701		RVS001	Revesz Syndrome	48
1702	c	WRD032	Waardenburg Syndrome, Type 2a	48
1703	c	BRD044	Bardet-Biedl Syndrome 17	48
1704	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	48
1705		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	48
1706	c	3MT015	3-Methylglutaconic Aciduria, Type I	48
1707		NNC002	Nance-Horan Syndrome	48
1708	c	BDY007	Body Mass Index Quantitative Trait Locus 1	48
1709		ACR058	Acrofacial Dysostosis 1, Nager Type	48
1710		HYP741	Hyperparathyroidism 2 with Jaw Tumors	48
1711	c	RTN177	Retinitis Pigmentosa 73	48
1712	c	FRS014	Fraser Syndrome 1	48
1713		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	48
1714	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	48
1715		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	48
1716	P	TYR004	Tyrosinemia	48
1717		JHN001	Johanson-Blizzard Syndrome	48
1718	c	FNC032	Fanconi Anemia, Complementation Group B	48
1719		SGW002	Segawa Syndrome, Autosomal Recessive	48
1720		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	48
1721	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	48
1722		KRT010	Kartagener Syndrome	48
1723		ATS010	Autosomal Recessive Disease	48
1724		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	48
1725		MYD002	Myd88 Deficiency	48
1726	c	HMC010	Hemochromatosis, Type 3	47
1727	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	47
1728		MCR165	Microphthalmia with Limb Anomalies	47
1729	P	NNT009	Neonatal Diabetes Mellitus	47
1730	P	MYF003	Myofibrillar Myopathy	47
1731	c	SCK009	Seckel Syndrome 1	47
1732	c	HNT004	Huntington Disease-Like 2	47
1733	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	47
1734	P	CNR007	Cone-Rod Dystrophy 6	47
1735		DWR001	Dwarfism	47
1736	P	MTH007	Methemoglobinemia	47
1737	c	HMC035	Hemochromatosis, Type 4	47
1738	c	ALB019	Albinism, Oculocutaneous, Type Iv	47
1739		MLT134	Multiple Pterygium Syndrome, Lethal Type	47
1740	c	MYP072	Myopathy, Myofibrillar, 1	47
1741		TRN022	Transcobalamin Ii Deficiency	47
1742		NRL018	Neural Tube Defects, Folate-Sensitive	47
1743		HYP231	Hypothalamic Hamartomas	47
1744	c	RTN142	Retinitis Pigmentosa 38	47
1745	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	47
1746	c	SCH079	Schizophrenia 1	47
1747	c	BRD032	Bardet-Biedl Syndrome 14	47
1748		ALV007	Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins	47
1749	P	GNG009	Gangliosidosis	47
1750	P	MRD002	Marden-Walker Syndrome	47
1751	c	ART155	Arthrogryposis, Distal, Type 2b1	47
1752	P	FNG006	Feingold Syndrome 1	46
1753	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	46
1754		PHS021	Phosphoglycerate Dehydrogenase Deficiency	46
1755	c	BRC079	Brachydactyly, Type A2	46
1756	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	46
1757	c	FNC028	Fanconi Anemia, Complementation Group L	46
1758		CHR594	Chromosome 3q29 Deletion Syndrome	46
1759		HRT031	Hartnup Disorder	46
1760	P	PRK001	Porokeratosis	46
1761		ATS008	Autosomal Dominant Disease	46
1762		HYD058	Hydrops, Lactic Acidosis, and Sideroblastic Anemia	46
1763	c	USH035	Usher Syndrome Type 2	46
1764	c	SPH013	Spherocytosis, Type 1	46
1765	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
1766		MYP136	Myopathy, Centronuclear, X-Linked	46
1767		SND002	Sneddon Syndrome	46
1768	c	WRD020	Waardenburg Syndrome, Type 4a	46
1769	c	3MT014	3-Methylglutaconic Aciduria, Type V	46
1770		CRD002	Cri-Du-Chat Syndrome	46
1771		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	46
1772	c	WRD019	Waardenburg Syndrome, Type 4b	46
1773	c	LTN004	Late-Onset Retinal Degeneration	46
1774	P	CRN276	Corneal Endothelial Dystrophy	46
1775	c	RTN172	Retinitis Pigmentosa 1	46
1776	c	HMC009	Hemochromatosis Type 2	46
1777	c	ALB015	Albinism, Oculocutaneous, Type V	46
1778	c	USH021	Usher Syndrome, Type Iid	46
1779		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	46
1780		KBG001	Kbg Syndrome	46
1781	P	DNR001	Duane Retraction Syndrome	46
1782		CHR492	Chromosome 13q14 Deletion Syndrome	45
1783	P	MCL001	Mucolipidosis	45
1784	c	NNN013	Noonan Syndrome 6	45
1785		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	45
1786	c	CRN243	Carney Complex, Type 1	45
1787	c	BRC081	Brachydactyly, Type C	45
1788	P	WHT013	White Sponge Nevus 1	45
1789		MNL001	Monilethrix	45
1790	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	45
1791	c	FNC029	Fanconi Anemia, Complementation Group I	45
1792		STT007	Steatocystoma Multiplex	45
1793	c	FNC045	Fanconi Anemia, Complementation Group F	45
1794	c	BRD020	Bardet-Biedl Syndrome 8	45
1795		GLC106	Glucocorticoid Resistance, Generalized	45
1796	P	MSC022	Mosaic Variegated Aneuploidy Syndrome	45
1797	P	TRM004	Trimethylaminuria	45
1798		LPP002	Lipoprotein Glomerulopathy	45
1799	c	ATR066	Atrial Septal Defect 2	45
1800	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
1801	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	45
1802	c	BRD033	Bardet-Biedl Syndrome 13	45
1803	c	ACH021	Achromatopsia 3	45
1804	c	BRC060	Brachydactyly, Type E2	45
1805		MRG013	Mirage Syndrome	45
1806	c	MCL066	Macular Dystrophy, Vitelliform, 2	44
1807		MLB001	Mulibrey Nanism	44
1808	c	WRD031	Waardenburg Syndrome, Type 3	44
1809	P	CHN044	Chondrodysplasia Punctata Syndrome	44
1810	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	44
1811	P	JVN024	Juvenile Hereditary Hemochromatosis	44
1812	c	HYP507	Hypotrichosis 1	44
1813	c	BRD011	Bardet-Biedl Syndrome 10	44
1814	c	MCK032	Meckel Syndrome, Type 3	44
1815	c	BRT050	Bartter Syndrome, Type 2, Antenatal	44
1816		MHR001	Mohr-Tranebjaerg Syndrome	44
1817		ACD008	Acid-Labile Subunit Deficiency	44
1818	c	HYP543	Hypoplastic Left Heart Syndrome 1	44
1819		MWT001	Mowat-Wilson Syndrome	44
1820	c	FNC057	Fanconi Anemia, Complementation Group U	44
1821	c	AMY069	Amyotrophic Lateral Sclerosis 21	44
1822		NTR018	Neutrophilia, Hereditary	44
1823	c	NML004	Nemaline Myopathy 3	44
1824		RST023	Resting Heart Rate, Variation in	44
1825	c	BRC052	Brachydactyly, Type B2	44
1826	c	MCK012	Meckel Syndrome, Type 6	44
1827	P	SYN012	Synpolydactyly	44
1828	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	44
1829		MYL013	Myeloperoxidase Deficiency	44
1830	c	BRD018	Bardet-Biedl Syndrome 6	44
1831	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	44
1832	c	TRN032	Transient Neonatal Diabetes Mellitus	44
1833	P	ANL018	Analbuminemia	44
1834	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	43
1835		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	43
1836		HST017	Histiocytosis-Lymphadenopathy Plus Syndrome	43
1837	c	JBR024	Joubert Syndrome 14	43
1838	c	TYR011	Tyrosinemia, Type Iii	43
1839	c	RTN160	Retinitis Pigmentosa 60	43
1840	c	PSR028	Psoriasis 7	43
1841	c	PSR032	Psoriasis 11	43
1842	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	43
1843		NNK001	Nonaka Myopathy	43
1844		RBF001	Riboflavin Deficiency	43
1845		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	43
1846		FRG010	Fragile X Tremor/ataxia Syndrome	43
1847	c	FNC025	Fanconi Anemia, Complementation Group J	43
1848		PRM057	Paramyotonia Congenita of Von Eulenburg	43
1849	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	43
1850		ATR013	Atrichia with Papular Lesions	43
1851		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	43
1852	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	43
1853		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	43
1854		PKL001	Poikiloderma with Neutropenia	43
1855	P	BNG032	Benign Mesothelioma	43
1856	c	MYP123	Myopathy, Centronuclear, 1	43
1857	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	43
1858	P	OCY003	Oocyte Maturation Defect 1	42
1859		GLC084	Glaucoma, Normal Tension	42
1860	c	NNN011	Noonan Syndrome 4	42
1861	P	CNG003	Congenital Dyserythropoietic Anemia	42
1862	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	42
1863		ATN014	Autoinflammation with Arthritis and Dyskeratosis	42
1864	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	42
1865		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	42
1866	c	SPN330	Spondylocostal Dysostosis 5	42
1867	c	MCL016	Mucolipidosis Iii Gamma	42
1868	c	PSR018	Psoriasis 13	42
1869	c	BRC062	Brachydactyly, Type D	42
1870		FBL002	Fibular Hypoplasia and Complex Brachydactyly	42
1871	P	DYS005	Dyslexia	42
1872	c	BRD048	Bardet-Biedl Syndrome 18	42
1873	c	SPL034	Split-Hand/foot Malformation 4	42
1874		MYP091	Myopathy, Congenital, with Fiber-Type Disproportion	42
1875	c	RTN143	Retinitis Pigmentosa 47	42
1876		NVS015	Nevus Comedonicus	42
1877	P	CHR084	Chromosomal Disease	42
1878	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	42
1879	c	FNC023	Fanconi Anemia, Complementation Group N	42
1880		HND004	Hand-Foot-Genital Syndrome	42
1881	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	42
1882		MCR216	Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation	42
1883	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	42
1884	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	42
1885	c	SPH014	Spherocytosis, Type 2	42
1886	c	BRD035	Bardet-Biedl Syndrome 15	42
1887	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	42
1888		MYP151	Myopathy, Congenital, Bailey-Bloch	42
1889	c	RTN043	Retinitis Pigmentosa 13	42
1890		ATX038	Ataxia and Polyneuropathy, Adult-Onset	42
1891	c	JBR015	Joubert Syndrome 6	42
1892	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	42
1893	P	PST059	Pustular Psoriasis	42
1894		HYL004	Hyaline Fibromatosis Syndrome	42
1895		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	42
1896	c	ACQ012	Acquired Angioedema	42
1897	P	CHR637	Choroidal Dystrophy, Central Areolar, 1	41
1898	P	DYS023	Dyschromatosis Universalis Hereditaria	41
1899	P	GRN048	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative	41
1900		CRR002	Currarino Syndrome	41
1901	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	41
1902	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	41
1903		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	41
1904	c	HYP575	Hypotrichosis 7	41
1905		CHR178	Chromosomal Triplication	41
1906	c	CTR130	Cataract 9, Multiple Types	41
1907	c	PRM212	Primary Microcephaly	41
1908	c	HMC021	Hemochromatosis, Type 2a	41
1909	c	LRS002	Larsen-Like Syndrome	41
1910		SPN331	Spondyloocular Syndrome	41
1911	c	RTS003	Ritscher-Schinzel Syndrome 1	41
1912	c	ALB016	Albinism, Oculocutaneous, Type Vii	41
1913		MYP139	Myopathy, Proximal, and Ophthalmoplegia	41
1914		CHR211	Chromosome 18p Deletion Syndrome	41
1915	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	41
1916	c	GLY023	Glycogen Storage Disease Type 0	41
1917		MYH012	Myhre Syndrome	41
1918	c	CTR098	Cataract 1, Multiple Types	41
1919		TRS021	Triosephosphate Isomerase Deficiency	41
1920	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	41
1921	c	PNT036	Pontocerebellar Hypoplasia, Type 6	41
1922		HYP110	Hyperproinsulinemia	41
1923	P	ATL001	Atelosteogenesis	41
1924	c	GLY098	Glycogen Storage Disease, Type Ixd	41
1925	P	MTC010	Mitochondrial Dna Depletion Syndrome	41
1926	c	SCK015	Seckel Syndrome 2	41
1927		HYP801	Hyperferritinemia with or Without Cataract	41
1928	c	PRC031	Preeclampsia/eclampsia 1	41
1929	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
1930		SCR035	Sacral Agenesis with Vertebral Anomalies	41
1931	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	40
1932	P	DNT009	Dentin Dysplasia	40
1933	P	MCR364	Macrodactyly	40
1934		VSC016	Vasculopathy, Retinal, with Cerebral Leukodystrophy	40
1935	c	GLC083	Glaucoma 3, Primary Infantile, B	40
1936		PTC002	Potocki-Lupski Syndrome	40
1937	c	MCR263	Microphthalmia, Syndromic 1	40
1938		CHR382	Chromosome 18q Deletion Syndrome	40
1939		SNL007	Senile Cataract	40
1940	P	UVS001	Uv-Sensitive Syndrome	40
1941	c	L2H001	L-2-Hydroxyglutaric Aciduria	40
1942	P	PRT042	Parietal Foramina	40
1943	c	ERL020	Early-Onset Schizophrenia	40
1944		ATM052	Autoimmune Disease 1	40
1945		CRD229	Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism	40
1946	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	40
1947		MYP094	Myopathy, Spheroid Body	40
1948		GNT031	Genitopatellar Syndrome	40
1949		RGD002	Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal	40
1950		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	40
1951		DHY011	Dihydropyrimidinase Deficiency	40
1952		ALR002	Al-Raqad Syndrome	40
1953		LRN006	Laurin-Sandrow Syndrome	40
1954	P	SPL061	Split Hand-Foot Malformation	40
1955		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	40
1956	c	OTP007	Otopalatodigital Syndrome, Type Ii	40
1957	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
1958	P	JVN007	Juvenile Absence Epilepsy	40
1959	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
1960	c	GLL038	Galloway-Mowat Syndrome 1	40
1961	P	XNT004	Xanthinuria	40
1962	c	HYP559	Hypotrichosis 8	40
1963	c	NML005	Nemaline Myopathy 4	40
1964		SCR020	Sacral Defect with Anterior Meningocele	40
1965	c	APL023	Aplasia Cutis Congenita, Nonsyndromic	40
1966		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	40
1967		HYP236	Hyperbilirubinemia, Rotor Type	40
1968	c	BRD017	Bardet-Biedl Syndrome 5	39
1969	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	39
1970		BRB006	Barber-Say Syndrome	39
1971		CMP089	Complement Component 6 Deficiency	39
1972	c	HYD064	Hydrocephalus, Congenital, 1	39
1973		PLY068	Polysubstance Abuse	39
1974		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	39
1975	c	KNB006	Knobloch Syndrome 1	39
1976	c	VTL009	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	39
1977	c	NNN021	Noonan Syndrome 8	39
1978		EPL131	Epilepsy, Pyridoxine-Dependent	39
1979	c	MCK033	Meckel Syndrome, Type 4	39
1980		LYM029	Lymphedema-Distichiasis Syndrome	39
1981	c	MYP131	Myopathy, Centronuclear, 2	39
1982		FRG008	Fragile X-Associated Tremor/ataxia Syndrome	39
1983		HRL004	Hurler-Scheie Syndrome	39
1984	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	39
1985	c	NNN024	Noonan Syndrome 9	39
1986	c	VNM003	Van Maldergem Syndrome 1	39
1987		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	39
1988		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	39
1989	c	SPH016	Spherocytosis, Type 4	39
1990		CRN247	Corneal Dystrophy, Thiel-Behnke Type	39
1991	c	MCK031	Meckel Syndrome, Type 2	39
1992		C1Q001	C1q Deficiency	39
1993	c	HMN027	Hemangioma, Capillary Infantile	39
1994		FNT005	Fontaine Progeroid Syndrome	39
1995	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
1996		XFP001	Xfe Progeroid Syndrome	39
1997		PTT045	Pituitary Hormone Deficiency, Combined, 1	39
1998		OVR093	Overhydrated Hereditary Stomatocytosis	39
1999		GLS018	Glass Syndrome	39
2000		MNT309	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1	38
2001		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	38
2002		SLF014	Sulfite Oxidase Deficiency, Isolated	38
2003		CHR386	Chromosome 6pter-P24 Deletion Syndrome	38
2004	c	SPL024	Split-Hand/foot Malformation 3	38
2005		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	38
2006	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	38
2007	c	MCP051	Mucopolysaccharidosis, Type Ix	38
2008		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	38
2009	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	38
2010	c	RTN090	Retinitis Pigmentosa 55	38
2011		HTR014	Heterotaxy, Visceral, 1, X-Linked	38
2012		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	38
2013	c	SPH015	Spherocytosis, Type 3	38
2014	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	38
2015		HYP550	Hypomagnesemia 1, Intestinal	38
2016	c	RTN048	Retinitis Pigmentosa 19	38
2017		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	38
2018		DBT007	Diabetic Cataract	38
2019		CHR667	Chromosome 3pter-P25 Deletion Syndrome	38
2020	P	PRD037	Periodontal Ehlers-Danlos Syndrome	38
2021		HNZ004	Heinz Body Anemias	38
2022		SYN089	Syndromic X-Linked Intellectual Disability Snyder Type	38
2023	c	BRT038	Baraitser-Winter Syndrome 1	38
2024		CRD245	Cardiac-Urogenital Syndrome	38
2025	P	BRN042	Branchiootic Syndrome	38
2026	c	AML020	Amelogenesis Imperfecta, Type Iv	38
2027	P	KLN006	Koolen-De Vries Syndrome	38
2028	c	FNC048	Fanconi Anemia, Complementation Group O	38
2029	c	CNR023	Cone-Rod Dystrophy 8	38
2030	c	FNC062	Fanconi Anemia, Complementation Group S	38
2031	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	38
2032	c	SCP001	Sc Phocomelia Syndrome	38
2033	c	LSS006	Lissencephaly 2	38
2034		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	38
2035		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	38
2036	c	WRB005	Warburg Micro Syndrome 4	38
2037		NTR007	Neutral Lipid Storage Disease with Myopathy	37
2038	c	OST126	Osteopetrosis, Autosomal Recessive 1	37
2039	P	ANT061	Antenatal Bartter Syndrome	37
2040	c	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	37
2041	c	SPL070	Split-Hand/foot Malformation 2	37
2042		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	37
2043	c	LKD008	Leukodystrophy, Hypomyelinating, 4	37
2044	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
2045	c	HYP581	Hypotrichosis 6	37
2046		DPH019	Diaphanospondylodysostosis	37
2047	c	NNN025	Noonan Syndrome 10	37
2048	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
2049	c	PRM032	Primary Congenital Glaucoma	37
2050	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	37
2051	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	37
2052	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	37
2053	c	CNR003	Cone-Rod Dystrophy 1	37
2054		SLT014	Salt and Pepper Developmental Regression Syndrome	37
2055	c	CNR017	Cone-Rod Dystrophy 9	37
2056	c	USH041	Usher Syndrome, Type if	37
2057	P	JVN008	Juvenile Glaucoma	37
2058		GLY032	Glycosylphosphatidylinositol Deficiency	37
2059	c	RTN136	Retinitis Pigmentosa 44	37
2060	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	37
2061		MNT058	Mental Retardation, X-Linked, Syndromic, Turner Type	37
2062		EPT021	Epithelial Recurrent Erosion Dystrophy	37
2063	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
2064	c	MCK014	Meckel Syndrome, Type 5	37
2065		DSN001	De Sanctis-Cacchione Syndrome	37
2066		MND025	Mandibulofacial Dysostosis with Alopecia	37
2067	c	MCR124	Microphthalmia, Isolated 1	37
2068	c	INF092	Inflammatory Bowel Disease 9	37
2069		CRY032	Carey-Fineman-Ziter Syndrome	37
2070		LGN006	Legionnaire Disease	37
2071	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	37
2072	c	CTR103	Cataract 4, Multiple Types	37
2073		INT258	Interstitial Nephritis, Karyomegalic	37
2074		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	37
2075	P	SPS008	Spastic Ataxia	37
2076		OHD005	Ohdo Syndrome, Sbbys Variant	37
2077		FNC030	Fanconi Anemia, Complementation Group G	37
2078	c	SPL033	Split-Hand/foot Malformation 6	37
2079	c	GLY016	Glycogen Storage Disease Ib	37
2080		PRL047	Prolonged Electroretinal Response Suppression	37
2081	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	37
2082	c	RTN044	Retinitis Pigmentosa 14	37
2083		CHR518	Chromosome 9p Deletion Syndrome	37
2084		MGL003	Megalocornea	37
2085	P	CRB154	Cerebrocostomandibular Syndrome	37
2086	c	GRN049	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	36
2087	c	LBR007	Leber Congenital Amaurosis 12	36
2088	c	BRD045	Bardet-Biedl Syndrome 19	36
2089		CRY019	Cryohydrocytosis	36
2090	c	RTN149	Retinitis Pigmentosa 42	36
2091	c	ATR031	Atrial Septal Defect 4	36
2092	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	36
2093	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	36
2094		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	36
2095	c	RTN131	Retinitis Pigmentosa 27	36
2096		PRM087	Premature Chromatid Separation Trait	36
2097		VSD002	Vas Deferens, Congenital Bilateral Aplasia of	36
2098		TRS002	Tarsal-Carpal Coalition Syndrome	36
2099	P	SPC019	Specific Language Impairment	36
2100		TRN012	Transient Global Amnesia	36
2101	c	CNR016	Cone-Rod Dystrophy 7	36
2102		CHR387	Chromosome Xp21 Deletion Syndrome	36
2103		LMB008	Limb-Mammary Syndrome	36
2104		BNB002	Bainbridge-Ropers Syndrome	36
2105	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	36
2106	c	BSL038	Basal Ganglia Calcification, Idiopathic, 1	36
2107	c	USH042	Usher Syndrome, Type Ig	36
2108	P	GLP001	Geleophysic Dysplasia	36
2109	c	CTR118	Cataract 14, Multiple Types	36
2110	c	WRD024	Waardenburg Syndrome, Type 4c	36
2111		EPP011	Epiphyseal Chondrodysplasia, Miura Type	36
2112	c	ZMM002	Zimmermann-Laband Syndrome 1	36
2113		NCT003	N-Acetylglutamate Synthase Deficiency	36
2114		CRD220	Cardiac Valvular Defect, Developmental	36
2115		MNC019	Monocarboxylate Transporter 1 Deficiency	36
2116	c	LBR011	Leber Congenital Amaurosis 16	36
2117	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
2118	c	NRC010	Narcolepsy 2	36
2119	c	WRB003	Warburg Micro Syndrome 2	36
2120		SNG007	Sengers Syndrome	36
2121	c	NML006	Nemaline Myopathy 5	36
2122	P	DXT004	Dextro-Looped Transposition of the Great Arteries	36
2123	c	ATS076	Autosomal Recessive Stickler Syndrome	36
2124	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	36
2125	c	CTR170	Cataract 30, Multiple Types	36
2126	c	SPR094	Sporadic Pheochromocytoma	36
2127		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	36
2128		PYR040	Pyropoikilocytosis, Hereditary	36
2129	c	RTN066	Retinitis Pigmentosa 4	36
2130		CLC008	Colchicine Resistance	36
2131		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	36
2132	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	36
2133	c	CTR115	Cataract 16, Multiple Types	35
2134	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	35
2135	c	FNC047	Fanconi Anemia, Complementation Group Q	35
2136	c	INF087	Inflammatory Bowel Disease 4	35
2137	c	CTR141	Cataract 21, Multiple Types	35
2138	c	RTN186	Retinitis Pigmentosa 75	35
2139	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	35
2140	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	35
2141	c	BRD047	Bardet-Biedl Syndrome 16	35
2142	c	RTN054	Retinitis Pigmentosa 25	35
2143		WRS002	Warsaw Breakage Syndrome	35
2144		MTC029	Mitochondrial Complex V Deficiency, Nuclear Type 1	35
2145	c	NNN020	Noonan Syndrome 7	35
2146		GPS001	Gapo Syndrome	35
2147		OGD001	Ogden Syndrome	35
2148	c	SVR040	Severe Congenital Nemaline Myopathy	35
2149		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	35
2150	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	35
2151	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	35
2152		TKN001	Takenouchi-Kosaki Syndrome	35
2153	c	SPH017	Spherocytosis, Type 5	35
2154	c	FNC058	Fanconi Anemia, Complementation Group R	35
2155	P	BRN076	Bronchiectasis with or Without Elevated Sweat Chloride 1	35
2156	c	MYP079	Myopathy, Myofibrillar, 5	35
2157		ENC067	Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis	35
2158		CHR501	Chromosome 17q12 Deletion Syndrome	35
2159	c	CTR122	Cataract 5, Multiple Types	35
2160	c	MLG157	Malignant Pheochromocytoma	35
2161		PLY062	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy	35
2162	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	35
2163		CYT004	Cytomegalic Inclusion Disease	35
2164		CLD003	Cold-Induced Sweating Syndrome	35
2165	c	GRN038	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii	35
2166	c	TRC078	Trichohepatoenteric Syndrome 2	35
2167		PRM056	Primrose Syndrome	35
2168	P	HYP111	Hyperprolinemia	35
2169		MNC011	Minicore Myopathy with External Ophthalmoplegia	35
2170		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	35
2171	c	JBR025	Joubert Syndrome 17	35
2172	c	JBR041	Joubert Syndrome 3	34
2173	c	RTN047	Retinitis Pigmentosa 18	34
2174	c	RTN134	Retinitis Pigmentosa 40	34
2175	P	OMD003	Omodysplasia	34
2176	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	34
2177		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	34
2178	c	CNR013	Cone-Rod Dystrophy 12	34
2179		CLR133	Colorblindness, Partial, Protan Series	34
2180	c	DYS067	Dystonia 6, Torsion	34
2181	c	HRD142	Hereditary Xanthinuria	34
2182		KNZ001	Kanzaki Disease	34
2183	c	FNC052	Fanconi Anemia, Complementation Group T	34
2184		AST052	Asthma, Nasal Polyps, and Aspirin Intolerance	34
2185		SCH071	Schaaf-Yang Syndrome	34
2186	c	RTN050	Retinitis Pigmentosa 20	34
2187	c	CNG195	Congenital Disorder of Glycosylation, Type Id	34
2188		CMP040	Complement Component 4, Partial Deficiency of	34
2189		CRN141	Corneal Dystrophy, Reis-Bucklers Type	34
2190	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	34
2191		CHR659	Chromosome 22q11.2 Duplication Syndrome	34
2192	P	MYS032	Myosin Storage Myopathy	34
2193	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	34
2194		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	34
2195	c	RTN042	Retinitis Pigmentosa 12	34
2196	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
2197		FLT009	Folate Malabsorption, Hereditary	34
2198	P	SYN059	Syndactyly, Type V	34
2199		PHS022	Phosphoserine Phosphatase Deficiency	34
2200	c	SPL025	Split-Hand/foot Malformation 5	34
2201	c	RTN165	Retinitis Pigmentosa 68	34
2202	c	OVR075	Ovarian Dysgenesis 1	34
2203	c	RTN051	Retinitis Pigmentosa 22	34
2204	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	34
2205		ACR043	Acromicric Dysplasia	34
2206		CRB081	Cerebellar Ataxia, Cayman Type	34
2207	P	AST055	Asthma-Related Traits 1	34
2208		TRP006	Tarp Syndrome	34
2209		KLL014	Kelley-Seegmiller Syndrome	34
2210		CRN212	Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome	34
2211	c	SYN061	Syndactyly, Type Iv	34
2212	P	ATR022	Atrial Septal Defect 3	34
2213	c	RTN055	Retinitis Pigmentosa 26	33
2214		INF159	Infantile Sialic Acid Storage Disease	33
2215	c	THY084	Thyrotoxic Periodic Paralysis 1	33
2216	c	WRD010	Waardenburg Syndrome Type 4	33
2217	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
2218	c	GLY057	Glycogen Storage Disease X	33
2219		ANT042	Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis	33
2220	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	33
2221		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	33
2222	P	3MT007	3-Methylglutaconic Aciduria	33
2223	c	FNC056	Fanconi Anemia, Complementation Group V	33
2224	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	33
2225	c	CTR125	Cataract 7	33
2226	c	MYT027	Myotonia Congenita, Autosomal Dominant	33
2227		BLR030	Bilirubin, Serum Level of, Quantitative Trait Locus 1	33
2228		TRM011	Terminal Osseous Dysplasia	33
2229		SRC015	Sarcosinemia	33
2230	c	DMN021	Diamond-Blackfan Anemia 6	33
2231	c	ICH023	Ichthyosis, Acquired	33
2232	c	ORT011	Orthostatic Hypotension 1	33
2233	c	HYP562	Hypothyroidism, Congenital, Nongoitrous, 6	33
2234	c	CRN109	Cranioectodermal Dysplasia 2	33
2235	P	RTS001	Ritscher-Schinzel Syndrome	33
2236	c	BRD019	Bardet-Biedl Syndrome 7	33
2237	c	MCK034	Meckel Syndrome, Type 8	33
2238	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	33
2239		PHS014	Phosphoglycerate Kinase 1 Deficiency	33
2240	c	NNS043	Nonsyndromic Retinitis Pigmentosa	33
2241	c	KLF004	Kleefstra Syndrome 1	33
2242	c	BST008	Bestrophinopathy, Autosomal Recessive	33
2243	P	UNC017	Uncombable Hair Syndrome 1	33
2244	c	CTR145	Cataract 44	33
2245		CHR377	Chromosome 10q26 Deletion Syndrome	33
2246		BRC004	Brachydactyly-Syndactyly Syndrome	33
2247	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	33
2248	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	33
2249		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	33
2250		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	33
2251	P	HNN005	Hennekam Lymphangiectasia-Lymphedema Syndrome 1	33
2252		HYD007	Hydrophthalmos	33
2253		HYP540	Hypertension, Diastolic	33
2254	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
2255	c	GLP003	Geleophysic Dysplasia 1	33
2256	c	AML057	Amelogenesis Imperfecta, Type Iiia	33
2257	c	CTR096	Cataract 6, Multiple Types	33
2258		GBT001	Gaba-Transaminase Deficiency	33
2259	P	WRB001	Warburg Micro Syndrome	32
2260	c	BRT052	Bartter Syndrome, Type 1, Antenatal	32
2261	c	JBR012	Joubert Syndrome 5	32
2262	c	RTN067	Retinitis Pigmentosa 41	32
2263	c	RTN062	Retinitis Pigmentosa 33	32
2264	c	LPR022	Leprosy 2	32
2265		CHR247	Chromosome 4p Deletion	32
2266		BSL037	Basal Laminar Drusen	32
2267	c	HYP515	Hypotrichosis 3	32
2268		CHR582	Chromosome 3q29 Duplication Syndrome	32
2269	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	32
2270	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	32
2271	c	EPL133	Epilepsy, Juvenile Absence 1	32
2272		MCR096	Macrocephaly/autism Syndrome	32
2273	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	32
2274		OLV004	Oliver-Mcfarlane Syndrome	32
2275	c	CND011	Cone Dystrophy 3	32
2276	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	32
2277	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	32
2278		CMB020	Combined Saposin Deficiency	32
2279		WDH003	Woodhouse-Sakati Syndrome	32
2280	P	HYP700	Hypomyelinating Leukodystrophy	32
2281	c	RBN008	Rubinstein-Taybi Syndrome 2	32
2282		CRN285	Corneal Dystrophy, Fleck	32
2283	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	32
2284		HSD004	Hsd10 Mitochondrial Disease	32
2285	c	SYN084	Synpolydactyly 1	32
2286	c	CNG198	Congenital Disorder of Glycosylation, Type Il	32
2287	c	WLL036	Weill-Marchesani Syndrome 1	32
2288	c	HYP716	Hypermanganesemia with Dystonia 1	32
2289	c	RTN133	Retinitis Pigmentosa 43	32
2290	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	32
2291	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	32
2292		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	32
2293	P	BRW001	Brown-Vialetto-Van Laere Syndrome	32
2294		CRT045	Creatine Phosphokinase, Elevated Serum	32
2295	c	JBR022	Joubert Syndrome 20	32
2296	c	HYP525	Hypotrichosis 2	32
2297	c	PRX060	Peroxisome Biogenesis Disorder 5a	32
2298		NGL001	Naegeli-Franceschetti-Jadassohn Syndrome	32
2299	P	PLY148	Polydactyly, Preaxial Ii	32
2300	c	CNG199	Congenital Disorder of Glycosylation, Type Im	32
2301		ARL004	Aural Atresia, Congenital	32
2302	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	32
2303	P	BCT020	Bacteremia 2	32
2304	P	NNS031	Non-Syndromic Intellectual Disability	32
2305	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	32
2306	c	HMC034	Hemochromatosis, Type 5	32
2307		SDR009	Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay	31
2308	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	31
2309	c	RTN046	Retinitis Pigmentosa 17	31
2310	c	MCR329	Microcephaly, Autosomal Dominant	31
2311	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	31
2312		ESN009	Eosinophil Peroxidase Deficiency	31
2313	c	GLP004	Geleophysic Dysplasia 2	31
2314	c	RTN068	Retinitis Pigmentosa 6	31
2315	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	31
2316	P	LTH003	Lethal Congenital Contracture Syndrome	31
2317		PRT130	Protein Z Deficiency	31
2318	P	CRN249	Cornea Plana	31
2319	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	31
2320	c	INT274	Intermediate Congenital Nemaline Myopathy	31
2321	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	31
2322	c	RTN059	Retinitis Pigmentosa 30	31
2323		HYP806	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	31
2324		SVN002	Sveinsson Chorioretinal Atrophy	31
2325	c	RTN064	Retinitis Pigmentosa 35	31
2326	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	31
2327	c	CNG188	Congenital Disorder of Glycosylation, Type if	31
2328	c	CCK002	Cockayne Syndrome Type I	31
2329	P	HRD144	Hereditary Mixed Polyposis Syndrome	31
2330	P	MTP005	Metaphyseal Anadysplasia	31
2331	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
2332	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	31
2333		MTP028	Metaphyseal Dysplasia, Spahr Type	31
2334	c	RTN056	Retinitis Pigmentosa 28	31
2335	c	RTN116	Retinitis Pigmentosa 56	31
2336		ALG027	Al-Gazali-Bakalinova Syndrome	31
2337	P	INV008	Invasive Pneumococcal Disease, Recurrent Isolated, 1	31
2338	c	AML017	Amelogenesis Imperfecta, Type Ib	31
2339	c	RTN129	Retinitis Pigmentosa 49	31
2340	c	ATR062	Atrial Septal Defect 1	31
2341	c	ACQ027	Acquired Cutis Laxa	31
2342	c	ACR081	Aicardi-Goutieres Syndrome 6	31
2343	c	INF086	Inflammatory Bowel Disease 3	31
2344		LRY022	Laryngoonychocutaneous Syndrome	31
2345		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	31
2346	c	CNR006	Cone-Rod Dystrophy 5	31
2347	c	AMY089	Amyotrophic Lateral Sclerosis 7	31
2348	c	MYC058	Myocardial Infarction 2	31
2349	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	31
2350		DRR017	Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies	31
2351		PRP038	Properdin Deficiency, X-Linked	31
2352	c	RTN152	Retinitis Pigmentosa 66	31
2353	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	31
2354		ALZ030	Alazami Syndrome	31
2355	c	RTN169	Retinitis Pigmentosa 70	31
2356	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	31
2357		MYP120	Myopathy, Distal, with Rimmed Vacuoles	31
2358		MYC071	Myoclonic-Atonic Epilepsy	31
2359	c	CTR158	Cataract 37	31
2360		RHM034	Rahman Syndrome	31
2361	c	SCK010	Seckel Syndrome 4	31
2362	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	31
2363	c	INF089	Inflammatory Bowel Disease 6	30
2364	c	PLZ002	Pelizaeus-Merzbacher-Like Disease	30
2365	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	30
2366	P	DSB002	Desbuquois Dysplasia	30
2367	c	MYP080	Myopathy, Myofibrillar, 4	30
2368	c	PRX056	Peroxisome Biogenesis Disorder 11b	30
2369	c	THY083	Thyrotoxic Periodic Paralysis 2	30
2370	c	SCK011	Seckel Syndrome 5	30
2371	c	SCH082	Schizophrenia 5	30
2372	c	CTR129	Cataract 31, Multiple Types	30
2373	c	RTN114	Retinitis Pigmentosa 58	30
2374	c	CTR095	Cataract 8, Multiple Types	30
2375	c	CNR005	Cone-Rod Dystrophy 3	30
2376	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	30
2377		PKL002	Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis	30
2378		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	30
2379	c	LBR013	Leber Congenital Amaurosis 3	30
2380		MTH077	Methylmalonic Aciduria, Cbla Type	30
2381		GLL035	Gillessen-Kaesbach-Nishimura Syndrome	30
2382	P	VNM004	Van Maldergem Syndrome	30
2383	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	30
2384	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	30
2385	c	ELL005	Elliptocytosis 2	30
2386		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	30
2387		CYN002	Cyanosis, Transient Neonatal	30
2388	c	CTR174	Cataract 40	30
2389		MYP097	Myopathy with Lactic Acidosis, Hereditary	30
2390	c	RTN210	Retinitis Pigmentosa 50	30
2391		PHS023	Phosphoserine Aminotransferase Deficiency	30
2392	c	ERY062	Erythrokeratodermia Variabilis Et Progressiva 5	30
2393	c	DYS139	Dyschromatosis Universalis Hereditaria 3	30
2394	c	USH031	Usher Syndrome, Type Ij	30
2395	c	HRM020	Hermansky-Pudlak Syndrome 10	30
2396	c	RTN057	Retinitis Pigmentosa 29	30
2397	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	30
2398	c	STC013	Stickler Syndrome, Type Ii	30
2399		BMB001	Bombay Phenotype	30
2400		STR099	Striatonigral Degeneration, Infantile, Mitochondrial	30
2401		IMM002	Immature Cataract	30
2402		24D001	2,4-Dienoyl-Coa Reductase Deficiency	30
2403		HYP823	Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome	30
2404	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	30
2405		3MT011	3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	30
2406	c	RTN171	Retinitis Pigmentosa 59	30
2407		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	30
2408	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	30
2409	c	DSB005	Desbuquois Dysplasia 2	30
2410	c	GLY017	Glycogen Storage Disease Ic	30
2411	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	30
2412	c	OST120	Osteopetrosis, Autosomal Recessive 5	30
2413	c	HYP577	Hypotrichosis 13	30
2414		DRR013	Diarrhea 8, Secretory Sodium, Congenital	30
2415	c	CRN133	Coronary Artery Disease, Autosomal Dominant, 1	30
2416	c	WLL037	Weill-Marchesani Syndrome 2	30
2417	c	ATS210	Autosomal Recessive Sideroblastic Anemia	30
2418	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
2419		RBS005	Ribose 5-Phosphate Isomerase Deficiency	29
2420		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	29
2421	c	MCL043	Macular Degeneration, Age-Related, 2	29
2422	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	29
2423		KYS001	Kyasanur Forest Disease	29
2424		MTC019	Metachromatic Leukodystrophy Due to Saposin B Deficiency	29
2425	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	29
2426	c	B4G002	B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	29
2427	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	29
2428		MYS057	Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency	29
2429		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	29
2430		JVN012	Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome	29
2431	c	JBR014	Joubert Syndrome 9	29
2432		ANH003	Anhaptoglobinemia	29
2433	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	29
2434	P	TRG016	Trigonocephaly 1	29
2435		GLT028	Glutaric Aciduria Iii	29
2436		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	29
2437	c	TYP035	Type 1 Diabetes Mellitus 11	29
2438	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
2439		STL007	Steel Syndrome	29
2440	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
2441		MCR183	Microcephaly-Capillary Malformation Syndrome	29
2442	c	PRX050	Peroxisome Biogenesis Disorder 9b	29
2443		ACR004	Acrokeratosis Verruciformis	29
2444		HYP682	Hypertelorism, Teebi Type	29
2445		CDL005	Caudal Duplication Anomaly	29
2446	c	PRX048	Peroxisome Biogenesis Disorder 10a	29
2447	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	29
2448	P	SPS225	Spastic Paralysis, Infantile-Onset Ascending	29
2449		PRP093	Pierpont Syndrome	29
2450	c	USH030	Usher Syndrome, Type Ik	29
2451	c	MCL059	Macular Dystrophy, Patterned, 1	29
2452	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
2453		GLT005	Glutamate Formiminotransferase Deficiency	29
2454	c	INC029	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1	29
2455		TTT001	Tatton-Brown-Rahman Syndrome	29
2456		RNG003	Ring Dermoid of Cornea	29
2457	P	DMN043	Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis	29
2458		CMP087	Complement Component 7 Deficiency	29
2459	c	PLY149	Polydactyly, Preaxial Iv	29
2460	P	ATX039	Ataxia-Pancytopenia Syndrome	29
2461	c	OMD001	Omodysplasia 1	29
2462	c	PLY136	Polydactyly, Preaxial I	29
2463	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	29
2464		HST022	Histiocytoma, Angiomatoid Fibrous	29
2465	c	MYP106	Myopathy, Myosin Storage, Autosomal Recessive	29
2466	c	LBR009	Leber Congenital Amaurosis 14	29
2467	c	RTN036	Retinal Cone Dystrophy 4	29
2468	c	ERL012	Early-Onset Glaucoma	29
2469		MYP153	Myopathy, Myofibrillar, 9, with Early Respiratory Failure	29
2470		CRB147	Cerebellofaciodental Syndrome	29
2471	c	PRX051	Peroxisome Biogenesis Disorder 6a	29
2472		HYP267	Hyperchlorhidrosis, Isolated	29
2473	P	OVR076	Ovarian Dysgenesis 2	29
2474		PYR021	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	28
2475	c	INF088	Inflammatory Bowel Disease 5	28
2476		PRK066	Parkinsonism with Spasticity, X-Linked	28
2477	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	28
2478	c	CNR039	Cone-Rod Dystrophy, X-Linked, 2	28
2479	c	GLY043	Glycogen Storage Disease Xii	28
2480	c	BRT039	Baraitser-Winter Syndrome 2	28
2481	c	MCR252	Microphthalmia, Syndromic 5	28
2482	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	28
2483		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	28
2484	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	28
2485		3MT008	3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	28
2486	c	RTN032	Retinal Cone Dystrophy 1	28
2487	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
2488	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	28
2489		SPC026	Specific Granule Deficiency 1	28
2490	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	28
2491	c	ANR046	Aniridia 3	28
2492		CNZ006	Coenzyme Q10 Deficiency, Primary, 1	28
2493	c	GLL040	Galloway-Mowat Syndrome 3	28
2494	c	RTN106	Retinitis Pigmentosa 51	28
2495	c	STS007	Sotos Syndrome 2	28
2496		HGH020	High Molecular Weight Kininogen Deficiency	28
2497	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	28
2498	c	JVN047	Juvenile Spondyloarthropathy	28
2499		LSC003	Luscan-Lumish Syndrome	28
2500		HYP808	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration	28
2501	c	ACQ047	Acquired Methemoglobinemia	28
2502	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	28
2503	c	PRX054	Peroxisome Biogenesis Disorder 12a	28
2504	c	RTN146	Retinitis Pigmentosa 62	28
2505	c	FRN033	Frontonasal Dysplasia 2	28
2506	c	ELL010	Elliptocytosis 1	28
2507	c	RTN052	Retinitis Pigmentosa 23	28
2508	c	CRN120	Corneal Dystrophy, Fuchs Endothelial, 3	28
2509	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
2510	c	RTN190	Retinitis Pigmentosa 76	28
2511	c	TYP037	Type 1 Diabetes Mellitus 13	28
2512	c	46X049	46,xy Sex Reversal 2	28
2513		SLT005	Solitary Median Maxillary Central Incisor	28
2514	c	SCH080	Schizophrenia 3	28
2515	P	STR092	Striatal Degeneration, Autosomal Dominant 2	28
2516	c	DMN017	Diamond-Blackfan Anemia 10	28
2517		LCT017	Lactate Dehydrogenase B Deficiency	28
2518	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	28
2519	c	ATS307	Autosomal Recessive Cerebellar Ataxia	28
2520		CRD017	Cardiac Valvular Dysplasia, X-Linked	28
2521		WTT002	Witteveen-Kolk Syndrome