Genetic Diseases Category (7415 diseases)

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

#	Family	MCID	Name	MIFTS
1	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	57
2		FML026	Familial Lipoprotein Lipase Deficiency	53
3		AMY082	Amyloidosis, Familial Visceral	50
4	P	FML018	Familial Mediterranean Fever	72
5		FML089	Familial Thoracic Aortic Aneurysm and Dissection	51
6	P	MLT048	Multiple Familial Trichoepithelioma	31
7	P	FML011	Familial Adenomatous Polyposis	72
8	c	FML346	Familial Adenomatous Polyposis 1	64
9	P	SZR006	Seizure Disorder	58
10	c	SZR007	Seizures, Benign Familial Infantile, 3	47
11	c	PRG126	Progressive Familial Heart Block	51
12	P	HRT035	Heart Block, Congenital	47
13	c	CHL132	Cholestasis, Progressive Familial Intrahepatic, 1	53
14	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	44
15	P	HYP607	Hypercholesterolemia, Familial	81
16	c	CHL137	Cholestasis, Progressive Familial Intrahepatic, 3	45
17		HYP190	Hypoalphalipoproteinemia, Primary	60
18	P	PRG047	Progressive Familial Intrahepatic Cholestasis	56
19	c	SZR014	Seizures, Benign Familial Infantile, 1	26
20	c	LPD015	Lipodystrophy, Familial Partial, Type 2	56
21	c	LPD019	Lipodystrophy, Partial, Acquired	42
22	c	PRG042	Progressive Familial Heart Block, Type Ia	60
23	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	38
24		BNG006	Benign Familial Neonatal Epilepsy	41
25	P	PLY018	Polycythemia	60
26	c	PRM012	Primary Polycythemia	52
27	c	ACQ010	Acquired Polycythemia	43
28	c	ATS209	Autosomal Dominant Secondary Polycythemia	20
29	c	PLY005	Polycythemia Due to Hypoxia	6
30	P	BNG026	Benign Neonatal Seizures	42
31		FTL002	Fatal Familial Insomnia	46
32	P	FML052	Familial Cold Autoinflammatory Syndrome	53
33	P	EPS030	Episodic Kinesigenic Dyskinesia 1	50
34	c	MYC068	Myoclonic Epilepsy of Infancy	39
35	c	FML157	Familial Male-Limited Precocious Puberty	35
36	P	EPL198	Epilepsy, Myoclonic Juvenile	27
37	c	EPL210	Epilepsy, Progressive Myoclonic, 6	26
38	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	26
39	c	EPL155	Epilepsy, Progressive Myoclonic, 8	25
40	c	EPL154	Epilepsy, Progressive Myoclonic, 9	24
41	c	EPL134	Epilepsy, Progressive Myoclonic 7	24
42	c	EPL188	Epilepsy, Progressive Myoclonic, 10	23
43	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	23
44	c	EPS013	Episodic Kinesigenic Dyskinesia 2	23
45	c	MYC086	Myoclonic Epilepsy, Juvenile 4	18
46	c	EPL186	Epilepsy, Juvenile Myoclonic 9	17
47	c	PRG133	Progressive Myoclonic Epilepsy Type 5	14
48	c	MYC085	Myoclonic Epilepsy, Juvenile 3	14
49	c	EPL009	Epilepsy Progressive Myoclonic Type 3	8
50	P	ATT003	Attenuated Familial Adenomatous Polyposis	46
51	c	CHL136	Cholestasis, Progressive Familial Intrahepatic, 2	45
52	P	EPL196	Epilepsy, Familial Focal, with Variable Foci 1	34
53	P	FML186	Familial Paroxysmal Nonkinesigenic Dyskinesia	32
54	c	PRX024	Paroxysmal Nonkinesigenic Dyskinesia 2	21
55		MTR030	Mitral Valve Prolapse, Familial, X-Linked	24
56		RGH011	Right Pulmonary Artery, Anomalous Origin of, Familial	14
57	c	HYP731	Hyperaldosteronism, Familial, Type I	58
58	P	PTT006	Pituitary Adenoma	53
59	c	PTT056	Pituitary Adenoma 1, Multiple Types	52
60	c	PRG043	Progressive Familial Heart Block, Type Ib	45
61	c	CHL143	Cholestasis, Progressive Familial Intrahepatic, 4	35
62	c	PTT061	Pituitary Adenoma 3, Multiple Types	14
63		PRD013	Periodic Fever, Familial, Autosomal Dominant	65
64	P	HYP724	Hyperlipoproteinemia, Type Iii	62
65		CNV018	Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis	36
66	c	HYP819	Hyperlipoproteinemia, Type Id	20
67	c	FML116	Familial Cold Autoinflammatory Syndrome 1	59
68	P	FML012	Familial Partial Lipodystrophy	52
69	c	FML023	Familial Hemiplegic Migraine	51
70	c	HYP768	Hyperlipoproteinemia, Type I	44
71	c	LPD040	Lipodystrophy, Familial Partial, Type 1	44
72		LRY047	Laryngeal Abductor Paralysis	25
73		CNV009	Convulsions Benign Familial Neonatal Dominant Form	19
74	c	LPD021	Lipodystrophy, Familial Partial, Type 3	51
75	c	PRG101	Progressive Familial Heart Block, Type Ii	34
76	P	FML156	Familial Hyperaldosteronism	37
77		CYL004	Cylindromatosis, Familial	32
78	c	SVR003	Severe Congenital Neutropenia	58
79	c	LPD034	Lipodystrophy, Familial Partial, Type 4	36
80	c	LPD036	Lipodystrophy, Familial Partial, Type 6	26
81		HYP766	Hyperbilirubinemia, Transient Familial Neonatal	22
82	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	20
83		TMP005	Temporal Epilepsy, Familial	19
84		GNV002	Genu Valgum, St. Helena Familial	13
85	P	PRC038	Precocious Puberty, Male-Limited	44
86		FML063	Familial Glucocorticoid Deficiency	41
87	c	MGR032	Migraine, Familial Hemiplegic, 1	38
88		BKS003	Beukes Hip Dysplasia	32
89	c	SZR023	Seizures, Benign Familial Neonatal, 2	31
90	c	LPD030	Lipodystrophy, Familial Partial, Type 5	25
91	P	EPL164	Epilepsy	73
92	P	ATR011	Atrial Fibrillation	69
93	P	HYP069	Hyperparathyroidism	59
94	P	PRN026	Porencephaly	49
95	c	BNG023	Benign Familial Infantile Epilepsy	45
96	P	FML043	Familial Idiopathic Basal Ganglia Calcification	43
97	c	HYP243	Hyperparathyroidism 1	39
98	c	ART028	Aortic Aneurysm, Familial Thoracic 4	27
99	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	22
100	c	BSL035	Basal Ganglia Calcification, Idiopathic, 5	22
101	P	ACN018	Acne Inversa, Familial, 1	22
102	c	BSL039	Basal Ganglia Calcification, Idiopathic, 6	21
103	c	PRN047	Porencephaly 2	19
104	c	BSL032	Basal Ganglia Calcification, Idiopathic, 4	18
105	c	DPD002	Depdc5-Related Epilepsy	5
106	P	ADV001	Advanced Sleep Phase Syndrome	37
107		IMM153	Immunodeficiency 51	21
108		MCR031	Macrocephaly, Benign Familial	15
109		FML075	Familial Isolated Hyperparathyroidism	46
110	c	HYP290	Hypobetalipoproteinemia, Familial, 2	40
111		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	35
112	c	HYP600	Hyperaldosteronism, Familial, Type Ii	31
113		HYP744	Hyperpigmentation with or Without Hypopigmentation, Familial Progressive	25
114	c	SZR016	Seizures, Benign Familial Infantile, 2	21
115	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	20
116	P	HRD200	Hereditary Breast Ovarian Cancer Syndrome	58
117	P	HYP818	Hypobetalipoproteinemia, Familial, 1	50
118	c	HYP734	Hypercholesterolemia, Autosomal Dominant, Type B	45
119		DYS182	Dysphasia, Familial Developmental	36
120	P	FML168	Familial Isolated Pituitary Adenoma	28
121	c	BRS088	Breast-Ovarian Cancer, Familial 3	21
122	c	BRS098	Breast-Ovarian Cancer, Familial 4	19
123		FML155	Familial Acute Myeloid Leukemia with Mutated Cebpa	12
124		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	58
125	P	TRT019	Torticollis	48
126	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	41
127		CPL013	Capillary Malformations, Congenital	37
128	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
129	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	36
130	c	BNG079	Benign Adult Familial Myoclonic Epilepsy	33
131	c	HYP804	Hyperlipidemia, Combined, 1	32
132	c	MTR080	Mitral Valve Prolapse 1	28
133	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	27
134	c	CNG129	Congenital Torticollis	24
135	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	23
136		THM023	Thiemann Disease	20
137	c	MTR077	Mitral Valve Prolapse 2	20
138		CPP001	Copper Deficiency, Familial Benign	19
139	c	MTR083	Mitral Valve Prolapse 3	18
140		CRN069	Corneal Hypesthesia, Familial	16
141		MYL018	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	13
142		OSS006	Ossicular Malformations, Familial	11
143	c	TRT007	Torticollis, Familial	9
144	P	FML279	Familial Isolated Arrhythmogenic Right Ventricular Dysplasia	9
145	P	PLR004	Pleuropulmonary Blastoma	61
146	P	HYP614	Hyperlipidemia, Familial Combined	54
147	P	HYP599	Hypoparathyroidism, Familial Isolated	40
148	c	SZR022	Seizures, Benign Familial Neonatal, 1	37
149	c	MGR030	Migraine, Familial Hemiplegic, 2	33
150	c	HYP438	Hyperaldosteronism, Familial, Type Iii	29
151		EXD009	Exudative Vitreoretinopathy 2, X-Linked	29
152	c	PLR018	Pleuropulmonary Blastoma Type 1	10
153	c	PLR020	Pleuropulmonary Blastoma Type 3	8
154	c	PLR019	Pleuropulmonary Blastoma Type 2	8
155	c	VNT034	Ventricular Fibrillation, Paroxysmal Familial, 1	65
156	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	61
157	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	57
158	P	HYP050	Hyperinsulinemic Hypoglycemia	55
159		VTM028	Vitamin E, Familial Isolated Deficiency of	55
160		HRD031	Hereditary Paraganglioma-Pheochromocytoma Syndromes	46
161	c	BRS110	Breast-Ovarian Cancer, Familial 1	38
162	c	PRX088	Paroxysmal Nonkinesigenic Dyskinesia 1	33
163	c	MYC083	Myoclonic Epilepsy, Familial Infantile	31
164	c	BRS111	Breast-Ovarian Cancer, Familial 2	19
165	P	ART067	Aortic Aneurysm, Familial Thoracic 1	67
166	P	TMP001	Temporal Lobe Epilepsy	57
167		EWN002	Ewing's Family of Tumors	53
168	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	52
169	P	EXD001	Exudative Vitreoretinopathy	51
170	P	AMY084	Amyloidosis, Finnish Type	45
171	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	38
172	c	FML117	Familial Cold Autoinflammatory Syndrome 2	37
173	c	EPL128	Epilepsy, Familial Temporal Lobe, 3	34
174		VNT032	Ventricular Tachycardia, Familial	27
175		IMM172	Immunodeficiency 34	17
176		DWR023	Dwarfism, Familial, with Muscle Spasms	15
177	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	12
178	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	12
179	c	MNN043	Meningioma, Familial	70
180	c	ART138	Aortic Aneurysm, Familial Abdominal, 1	65
181	P	FBR031	Febrile Seizures	55
182	c	EPL073	Epilepsy, Nocturnal Frontal Lobe, 1	48
183	P	ATS011	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	40
184	P	BNG002	Benign Meningioma	35
185	c	EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	29
186	c	TRC095	Trichoepithelioma, Multiple Familial, 1	25
187	c	EPL096	Epilepsy, Nocturnal Frontal Lobe, 5	25
188	c	EPL204	Epilepsy, Nocturnal Frontal Lobe, 4	24
189	c	ATS327	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2	24
190	c	FBR072	Febrile Seizures, Familial, 11	23
191		ACN030	Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease	20
192	c	ACN016	Acne Inversa, Familial, 3	20
193	c	EPL202	Epilepsy, Nocturnal Frontal Lobe, 2	19
194	c	SZR020	Seizures, Benign Familial Infantile, 5	17
195	c	ATS379	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4	11
196	P	HYP040	Hypospadias	58
197	c	EPL115	Epilepsy, Familial Temporal Lobe, 2	37
198	P	GLM015	Glomerulopathy with Fibronectin Deposits 2	33
199		MTC107	Mitochondrial Complex I Deficiency Due to Acad9 Deficiency	30
200	P	ARR027	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	24
201		MYX012	Myxoma, Intracardiac	24
202		JNT001	Joint Laxity, Familial	24
203	c	FML347	Familial Adenomatous Polyposis 2	23
204	c	CRD176	Cardiomyopathy, Familial Restrictive, 1	20
205	c	ART105	Aortic Aneurysm, Familial Thoracic 7	19
206	c	CRD098	Cardiomyopathy, Familial Restrictive, 3	16
207		ANR042	Aniridia - Ptosis - Intellectual Disability - Familial Obesity	16
208	c	FML348	Familial Pityriasis Rubra Pilaris	13
209	c	HYP545	Hypospadias 3, Autosomal	12
210	c	PST093	Posterior Hypospadias	11
211	c	PRM005	Primary Hyperparathyroidism	60
212	P	SCK002	Sick Sinus Syndrome	54
213	c	LYS021	Loeys-Dietz Syndrome 3	54
214	c	LYS017	Loeys-Dietz Syndrome 4	49
215	P	OPT070	Optic Nerve Hypoplasia, Bilateral	49
216	c	MYS051	Myasthenic Syndrome, Congenital, 5	45
217		MYS061	Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency	44
218	c	PLM170	Pulmonary Venoocclusive Disease 1, Autosomal Dominant	44
219	c	MYS078	Myasthenic Syndrome, Congenital, 14	43
220	c	MYS052	Myasthenic Syndrome, Congenital, 10	39
221		FML307	Familial Calcium Pyrophosphate Deposition	34
222	c	MYS075	Myasthenic Syndrome, Congenital, 13	34
223	c	PLM167	Pulmonary Venoocclusive Disease 2, Autosomal Recessive	29
224	c	FML213	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form	28
225	c	LYS020	Loeys-Dietz Syndrome 5	26
226	c	MYS076	Myasthenic Syndrome, Congenital, 8	25
227	c	MYS074	Myasthenic Syndrome, Congenital, 12	24
228	P	HYD015	Hydroa Vacciniforme	24
229	c	CSH006	Cushing Syndrome Due to Macronodular Adrenal Hyperplasia	24
230	c	MYS064	Myasthenic Syndrome, Congenital, 16	23
231	c	SCK017	Sick Sinus Syndrome 1	23
232	c	MYS070	Myasthenic Syndrome, Congenital, 19	22
233	c	MYS065	Myasthenic Syndrome, Congenital, 18	22
234		IMM099	Immunodeficiency 33	21
235	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	21
236	c	MYS077	Myasthenic Syndrome, Congenital, 15	21
237	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	19
238		OST150	Osteodysplasia, Familial, Anderson Type	18
239	c	SCK022	Sick Sinus Syndrome 3	16
240		SHL003	Shoulder Girdle Defect Mental Retardation Familial	14
241	c	FML309	Familial Infantile Bilateral Striatal Necrosis	13
242	c	SPR070	Sporadic Infantile Bilateral Striatal Necrosis	11
243	c	HYD016	Hydroa Vacciniforme, Familial	11
244		FML254	Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion	9
245	P	CSH002	Cushing Syndrome, Familial	8
246	c	OPT030	Optic Nerve Hypoplasia, Familial Bilateral	8
247		UMB003	Umbilicus, Familial Flat	8
248	c	HMR010	Hemeralopia, Congenital Essential	4
249	P	HMR011	Hemeralopia, Familial	3
250	c	EXD008	Exudative Vitreoretinopathy 1	72
251	c	LPM012	Lipomatosis, Multiple	64
252	c	ERY048	Erythrocytosis, Familial, 2	52
253		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	50
254		DSM003	Desmoid Disease, Hereditary	49
255	P	LPM005	Lipomatosis	46
256	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	43
257		FML036	Familial Periodic Paralysis	42
258	c	CHR630	Chorea, Benign Hereditary	35
259	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	33
260	c	EPS039	Episodic Pain Syndrome, Familial, 1	31
261	c	GNR039	Generalized Epilepsy with Febrile Seizures Plus, Type 2	30
262		ESN023	Eosinophilia, Familial	25
263	c	FML339	Familial Adenomatous Polyposis 4	23
264	c	GNR041	Generalized Epilepsy with Febrile Seizures Plus, Type 3	21
265	c	EPL150	Epilepsy, Familial Temporal Lobe, 7	20
266	c	GNR034	Generalized Epilepsy with Febrile Seizures Plus, Type 9	20
267	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	16
268	c	ERY032	Erythrocytosis, Familial, 4	16
269	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	13
270	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	13
271	c	ALZ049	Alzheimer Disease 2	60
272	P	ANT006	Antiphospholipid Syndrome	60
273	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	58
274		STT041	Stuttering	55
275	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	44
276	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	42
277	c	EPL114	Epilepsy, Familial Temporal Lobe, 1	40
278		INT304	Interstitial Pneumonitis, Desquamative, Familial	37
279		CHR525	Chromosome Xq26.3 Duplication Syndrome	33
280	c	ART071	Aortic Aneurysm, Familial Thoracic 6	32
281	P	FML313	Familial Progressive Hyperpigmentation	29
282	P	PRD017	Periodic Paralyses	27
283	c	GZP003	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1	26
284	c	ARR041	Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	21
285	c	ANT041	Antiphospholipid Syndrome, Familial	20
286	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	20
287	c	FBR069	Febrile Seizures, Familial, 4	19
288	c	EPL081	Epilepsy, Familial Temporal Lobe, 5	19
289	c	EPL152	Epilepsy, Familial Temporal Lobe, 8	17
290	c	ERY031	Erythrocytosis, Familial, 3	17
291	c	FML159	Familial Periodic Paralyses	17
292	P	FML048	Familial Avascular Necrosis of the Femoral Head	17
293		DSC014	Discoid Fibromas, Familial Multiple	17
294		URM003	Uromodulin-Associated Kidney Disease	16
295	c	TRC094	Trichoepithelioma, Multiple Familial, 2	16
296	c	VNT012	Ventricular Fibrillation, Paroxysmal Familial, 2	15
297	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	15
298	P	XNC004	X Inactivation, Familial Skewed, 1	14
299		MLT051	Multiple Fibrofolliculoma Familial	6
300	c	CHR089	Chronic Kidney Failure	73
301	P	KDN018	Kidney Disease	68
302	P	AMY004	Amyloidosis	68
303	P	HYP802	Hypocalcemia, Autosomal Dominant 1	67
304	P	HLP001	Holoprosencephaly	66
305	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
306	c	AMY009	Amyloidosis Aa	56
307	P	FML035	Familial Hyperlipidemia	51
308	c	HYP739	Hyperlipoproteinemia, Type Iv	49
309	c	HRD039	Hereditary Amyloidosis	49
310	c	HLP023	Holoprosencephaly 1	47
311	c	HYP396	Hypercholesterolemia, Autosomal Recessive	43
312	c	HLP029	Holoprosencephaly 4	40
313	P	HYP733	Hypercalciuria, Absorptive, 2	40
314	c	HLP024	Holoprosencephaly 2	40
315	c	HLP026	Holoprosencephaly 3	40
316	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	37
317		ASP026	Asplenia, Isolated Congenital	33
318	c	HLP028	Holoprosencephaly 5	32
319	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	31
320	c	HLP027	Holoprosencephaly 7	30
321		FML206	Familial Cerebral Saccular Aneurysm	26
322	P	INT260	Intracranial Berry Aneurysm	25
323	c	HLP025	Holoprosencephaly 9	25
324	c	HLP016	Holoprosencephaly 11	24
325	c	SCK014	Sick Sinus Syndrome 2	22
326		FML211	Familial Papillary or Follicular Thyroid Carcinoma	22
327	c	HLP022	Holoprosencephaly 8	22
328		LNT008	Lentiginosis, Inherited Patterned	21
329	c	HYP564	Hypocalcemia, Autosomal Dominant 2	20
330	c	PRM150	Primary Localized Amyloidosis	20
331		DCR009	Dicer1-Related Disorders	20
332	c	AHM002	Ah Amyloidosis	18
333	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	17
334	c	FCL065	Facial Palsy, Familial Recurrent Peripheral	15
335	c	NNS019	Nonsyndromic Holoprosencephaly	15
336	c	SZR025	Seizures, Benign Familial Neonatal, 3	14
337		GGN006	Gigantiform Cementoma, Familial	14
338	c	FBR067	Febrile Seizures, Familial, 9	14
339	c	HLP021	Holoprosencephaly 6	13
340	c	SZR024	Seizures, Benign Familial Neonatal, Autosomal Recessive	13
341	c	ANR011	Aneurysm, Intracranial Berry, 2	13
342	c	ANR028	Aneurysm, Intracranial Berry, 3	13
343	c	ANR022	Aneurysm, Intracranial Berry, 4	12
344		SYN087	Synovial Chondromatosis, Familial, with Dwarfism	12
345	c	ART152	Aortic Aneurysm, Familial Abdominal, 3	11
346	c	ANR030	Aneurysm, Intracranial Berry, 8	10
347	c	ANR024	Aneurysm, Intracranial Berry, 9	10
348	c	HYP809	Hypercalciuria, Absorptive, 1	10
349	c	ANR023	Aneurysm, Intracranial Berry, 7	10
350	c	ANR029	Aneurysm, Intracranial Berry, 6	10
351	c	FBR076	Febrile Seizures, Familial, 7	10
352	c	ANR039	Aneurysm, Intracranial Berry, 11	10
353	c	ANR026	Aneurysm, Intracranial Berry, 5	10
354	c	ANR025	Aneurysm, Intracranial Berry, 10	10
355	P	RCR003	Recurrent Peripheral Facial Palsy	9
356		THR043	Thrombomodulin Anomalies, Familial	7
357		CBP001	Cebpa-Associated Familial Acute Myeloid Leukemia	6
358		FML088	Familial Streblodactyly	6
359		FML086	Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect	4
360	c	DYS165	Dysfibrinogenemia, Congenital	38
361		DGT005	Digital Arthropathy-Brachydactyly, Familial	31
362		MYC066	Myoclonus, Familial Cortical	30
363		DYS140	Dyskinesia, Familial, with Facial Myokymia	29
364	c	FML299	Familial Adenomatous Polyposis 3	24
365	c	GNR043	Generalized Epilepsy with Febrile Seizures Plus, Type 7	24
366	c	FML270	Familial Cold Autoinflammatory Syndrome 4	22
367	c	EPS028	Episodic Pain Syndrome, Familial, 3	20
368	c	ATR072	Atrial Fibrillation, Familial, 13	20
369	c	ATR059	Atrial Fibrillation, Familial, 11	19
370	c	ATR069	Atrial Fibrillation, Familial, 12	19
371	c	ATR068	Atrial Fibrillation, Familial, 14	18
372	c	ERY063	Erythrocytosis, Familial, 5	15
373	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	14
374	P	CRY007	Cryoglobulinemia, Familial Mixed	56
375	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	46
376	c	TYP024	Type Ii Mixed Cryoglobulinemia	39
377	c	ARR046	Arrhythmogenic Right Ventricular Dysplasia, Familial, 2	37
378	c	PRK085	Parkinson Disease 1, Autosomal Dominant	35
379		PGM029	Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked	34
380	c	HYP805	Hypercholesterolemia, Autosomal Dominant, 3	32
381	P	HYP078	Hypertrophy of Breast	31
382	c	ADV003	Advanced Sleep Phase Syndrome, Familial, 1	27
383		CD8002	Cd8 Deficiency, Familial	25
384	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	24
385		HYP344	Hyperthyroidism, Familial Gestational	24
386	P	FML340	Familial Episodic Pain Syndrome	24
387	c	TTH013	Tooth Agenesis, Selective, 4	22
388		HYP279	Hypercholanemia, Familial	22
389		GLC043	Glucocorticoid Deficiency 2	21
390		SCP007	Scaphocephaly, Maxillary Retrusion, and Mental Retardation	21
391	P	TTH010	Tooth Agenesis, Selective, 1	21
392		CLL041	Collagenoma, Familial Cutaneous	21
393	c	ATR039	Atrial Fibrillation, Familial, 4	20
394	c	ATR035	Atrial Fibrillation, Familial, 6	19
395	c	ART118	Aortic Aneurysm, Familial Thoracic 9	19
396	c	ATR061	Atrial Fibrillation, Familial, 10	19
397	c	HYP678	Hypertrophy of the Breast, Juvenile	19
398	c	ADV007	Advanced Sleep Phase Syndrome, Familial, 2	18
399	c	ATR092	Atrial Fibrillation, Familial, 15	18
400	c	ATR037	Atrial Fibrillation, Familial, 7	18
401	c	ATR038	Atrial Fibrillation, Familial, 3	17
402	c	ATR085	Atrial Fibrillation, Familial, 18	17
403	c	ART133	Aortic Aneurysm, Familial Thoracic 11	17
404	c	ART107	Aortic Aneurysm, Familial Thoracic 8	17
405	c	TTH012	Tooth Agenesis, Selective, 3	17
406	c	ADV006	Advanced Sleep Phase Syndrome, Familial, 3	16
407		GLC053	Glucocorticoid Deficiency 3	16
408	c	TTH027	Tooth Agenesis, Selective, 8	16
409	c	ATR070	Atrial Fibrillation, Familial, 9	16
410	c	TTH025	Tooth Agenesis, Selective, 9	15
411	c	TTH026	Tooth Agenesis, Selective, 7	15
412	c	TTH017	Tooth Agenesis, Selective, 5	14
413	c	TTH011	Tooth Agenesis, Selective, 2	13
414	c	MXD037	Mixed Cryoglobulinemia Type Iii	13
415	c	ERY064	Erythrocytosis, Familial, 6	11
416	c	HYP333	Hyperlipidemia, Combined, 2	11
417	c	XNC002	X Inactivation, Familial Skewed, 2	10
418		FML160	Familial Spastic Paralysis	6
419	c	SYS001	Systemic Lupus Erythematosus	88
420	c	ART115	Aortic Valve Disease 1	71
421	P	LPS004	Lupus Erythematosus	69
422	c	MGR028	Migraine with or Without Aura 1	69
423	P	PLM036	Pulmonary Fibrosis	69
424	c	MLT160	Multiple Endocrine Neoplasia, Type Iia	66
425	c	WLM013	Wilms Tumor 1	65
426	c	ART101	Aortic Valve Disease 2	65
427		HYP020	Hyperprolactinemia	64
428	P	MYS005	Myositis	64
429	P	HMN010	Hemangioma	60
430	c	VSC019	Vesicoureteral Reflux 1	59
431	P	KDN017	Kidney Cancer	59
432	P	OVR049	Ovarian Disease	58
433	P	PMP005	Pemphigus Vulgaris	58
434	P	MLT074	Multiple Endocrine Neoplasia	57
435		PSD021	Pseudovaginal Perineoscrotal Hypospadias	54
436	P	OTS001	Otosclerosis	53
437	P	MGR001	Migraine Without Aura	48
438	c	WLM011	Wilms Tumor 6	48
439	P	ART018	Aortic Valve Insufficiency	47
440		ACH015	Achalasia, Familial Esophageal	47
441	P	MYG005	Myoglobinuria	45
442	c	SYS043	Systemic Lupus Erythematosus 1	45
443		HRT015	Heritable Pulmonary Arterial Hypertension	44
444		CLB019	Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly	42
445		GTR011	Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors	42
446	c	PMP006	Pemphigus Vulgaris, Familial	41
447		PRM237	Primary Hypomagnesemia	40
448	c	MYG007	Myoglobinuria, Recurrent	39
449	P	HRD009	Hereditary Wilms' Tumor	38
450		FML304	Familial Isolated Dilated Cardiomyopathy	38
451		FBR089	Fibrosclerosis, Multifocal	37
452	c	SYS061	Systemic Lupus Erythematosus 16	37
453		DSQ001	Desquamative Interstitial Pneumonia	37
454	P	THY061	Thyroid Dyshormonogenesis 2a	37
455	P	LTT001	Lattice Corneal Dystrophy	36
456	c	CRN236	Corneal Dystrophy, Lattice Type I	34
457	c	PRP091	Porphyria Cutanea Tarda, Type I	33
458	c	HYP699	Hyperekplexia 1	32
459	c	KDN016	Kidney Benign Neoplasm	32
460	c	PRV019	Periventricular Nodular Heterotopia 1	31
461		HYP249	Hyperthyroidism, Nonautoimmune	31
462	c	OTS005	Otosclerosis 1	30
463	c	FML324	Familial Porphyria Cutanea Tarda	30
464	c	MLG144	Malignant Hemangioma	29
465	c	WLM005	Wilms Tumor 2	28
466	c	THY071	Thyroid Dyshormonogenesis 1	27
467	c	FML272	Familial Sick Sinus Syndrome	27
468		FML214	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form	27
469		FML215	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	27
470	c	FML269	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis	27
471		HYP677	Hyperthyroxinemia, Familial Dysalbuminemic	26
472		SHR108	Short Stature, Idiopathic, X-Linked	25
473	c	SYS069	Systemic Lupus Erythematosus 6	25
474	c	THY056	Thyroid Dyshormonogenesis 3	25
475	c	THY063	Thyroid Dyshormonogenesis 4	25
476	c	CRN160	Corneal Dystrophy, Lattice Type Iiia	25
477		FLR007	Failure of Tooth Eruption, Primary	25
478		EDC001	Edict Syndrome	24
479	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	24
480	c	SYS038	Systemic Lupus Erythematosus 2	23
481	c	EPL113	Epilepsy, Familial Temporal Lobe, 4	23
482		CRT040	Corticosterone Methyloxidase Type Ii Deficiency	23
483	c	PRV018	Periventricular Nodular Heterotopia 7	22
484		FCT029	Factor V and Factor Viii, Combined Deficiency of, 1	22
485	c	MGR036	Migraine with or Without Aura 2	22
486	c	ARR047	Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	21
487	c	LTT008	Lattice Corneal Dystrophy Type Ii	21
488	c	ARR049	Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	21
489	c	PRV016	Periventricular Nodular Heterotopia 6	21
490		FML293	Familial Isolated Restrictive Cardiomyopathy	21
491	c	HYP510	Hyperekplexia 2	21
492	c	HYP825	Hyperekplexia 4	20
493	c	FBR073	Febrile Seizures, Familial, 1	19
494	c	WLM018	Wilms Tumor 5	19
495	c	SYS046	Systemic Lupus Erythematosus 3	19
496	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
497	c	THY062	Thyroid Dyshormonogenesis 5	18
498	c	THY110	Thyroid Dyshormonogenesis 6	18
499	c	VSC046	Vesicoureteral Reflux 8	18
500	c	WLM017	Wilms Tumor 4	18
501	c	SYS051	Systemic Lupus Erythematosus 4	18
502		VLV047	Volvulus of Midgut	18
503	c	VSC025	Vesicoureteral Reflux 3	18
504	c	MGR023	Migraine Without Aura 4	17
505	c	ACQ004	Acquired Hemangioma	17
506	c	OTS007	Otosclerosis 3	17
507	c	MGR024	Migraine with or Without Aura 5	17
508		FML325	Familial Cervical Artery Dissection	17
509	c	SYS053	Systemic Lupus Erythematosus 5	17
510	c	VSC020	Vesicoureteral Reflux 2	16
511	c	SYS040	Systemic Lupus Erythematosus 10	16
512	c	MGR040	Migraine with or Without Aura 12	16
513	c	PLM044	Pulmonary Fibrosis, Familial	16
514		ANG063	Angiolipomatosis, Familial	16
515	c	OTS012	Otosclerosis 10	16
516	c	OTS010	Otosclerosis 7	16
517	c	SYS041	Systemic Lupus Erythematosus 9	15
518	c	SYS055	Systemic Lupus Erythematosus 12	15
519	c	MGR022	Migraine with or Without Aura 3	15
520	c	MGR038	Migraine with or Without Aura 10	15
521	c	FBR074	Febrile Seizures, Familial, 6	15
522	c	SYS047	Systemic Lupus Erythematosus 7	15
523	c	OTS011	Otosclerosis 8	15
524	c	WLM015	Wilms Tumor 3	15
525	P	SPR076	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis	15
526	c	FBR075	Febrile Seizures, Familial, 2	15
527	c	FBR071	Febrile Seizures, Familial, 5	15
528	c	SYS065	Systemic Lupus Erythematosus 11	15
529	c	MGR039	Migraine with or Without Aura 11	15
530	c	OTS008	Otosclerosis 4	14
531		HYP786	Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy	14
532	c	OTS006	Otosclerosis 2	14
533	c	BCT018	Bacterial Myositis	14
534	c	MGR042	Migraine with or Without Aura 13	13
535	c	SYS048	Systemic Lupus Erythematosus 8	13
536	c	SYS045	Systemic Lupus Erythematosus 14	13
537	c	SYS052	Systemic Lupus Erythematosus 13	13
538		CMD004	Comedones, Familial Dyskeratotic	13
539	c	EPL124	Epilepsy, Familial Temporal Lobe, 6	13
540		ERY057	Erythema Nodosum, Familial	13
541		FCT027	Factors Viii, Ix and Xi, Combined Deficiency of	13
542		DGH001	Doughnut Lesions of Skull, Familial	13
543	c	VRL025	Viral Myositis	13
544	c	SYS067	Systemic Lupus Erythematosus 15	12
545	c	OTS009	Otosclerosis 5	11
546		FCT025	Factor Vii and Factor Viii, Combined Deficiency of	11
547		IMM016	Immune Deficiency, Familial Variable	10
548	c	ART151	Aortic Aneurysm, Familial Abdominal, 2	10
549		FCT028	Factor Ix and Factor Xi, Combined Deficiency of	10
550	c	CRD057	Cardiomyopathy, Familial Restrictive, 2	10
551	c	MGR037	Migraine with or Without Aura 8	10
552		NGY001	Nguyen Syndrome	10
553		FCT026	Factor Viii and Factor Ix, Combined Deficiency of	10
554	c	ADV008	Advanced Sleep Phase Syndrome 2	10
555		HYP694	Hyperreninemic Hypoaldosteronism, Familial, 2	10
556		GNT044	Genetic Atypical Hemolytic-Uremic Syndrome	9
557	c	FBR068	Febrile Seizures, Familial, 10	9
558	c	KDN012	Kidney Carcinoma in Situ	9
559	c	AXN008	Axin2-Related Attenuated Familial Adenomatous Polyposis	9
560	P	STT036	Stuttering, Familial Persistent, 3	9
561	c	STT039	Stuttering, Familial Persistent, 4	9
562	c	FML158	Familial Hemangioma	6
563	c	RNL033	Renal Carcinoma, Familial	6
564		LTR010	Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities	5
565	c	OTS004	Otosclerosis, Familial	5
566	c	LCL003	Localized Pulmonary Fibrosis	5
567	c	OVR071	Ovarian Insufficiency, Familial	4
568	c	SZR003	Seizures Benign Familial Neonatal Recessive Form	4
569	P	MTR029	Mitral Valve Prolapse, Familial, Autosomal Dominant	3
570	c	OVR070	Ovarian Insufficiency Due to Fsh Resistance	3
571		FML082	Familial Partial Paralysis	3
572		ANT031	Anterior Pituitary Insufficiency, Familial	3
573		HYP197	Hypofibrinogenemia, Familial	3
574		NPH020	Nephronophthisis Familial Adult Spastic Quadriparesis	3
575		NPH022	Nephropathy Familial with Hyperuricemia	3
576		HYP153	Hypergonadotropic Ovarian Failure, Familial or Sporadic	2
577		RGH002	Right Atrium Familial Dilatation	2
578		HYP177	Hypertensive Hypokalemia Familial	2
579		PLM063	Pulmonary Hypoplasia Familial Primary	2
580		NSL012	Nasal Polyposis, Familial	2
581		EPL014	Epilepsy, Partial, Familial	2
582		DST014	Distal Primary Acidosis, Familial	2
583		PLM055	Pulmonary Artery Familial Dilatation	2
584	P	HYP750	Hypertriglyceridemia, Familial	60
585		ACT164	Actinic Prurigo	50
586	c	HYP555	Hypertriglyceridemia, Transient Infantile	41
587	c	CRD219	Cardiomyopathy, Infantile Hypertrophic	31
588		ATN012	Autoinflammatory Syndrome, Familial, Behcet-Like	21
589	c	EPL187	Epilepsy, Familial Focal, with Variable Foci 2	18
590	c	EPL192	Epilepsy, Familial Focal, with Variable Foci 3	18
591	c	CRD242	Cardiomyopathy, Familial Hypertrophic 27	17
592	c	EPS027	Episodic Pain Syndrome, Familial, 2	16
593	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	14
594	c	HYP486	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training	8
595	P	GLL022	Guillain-Barre Syndrome	63
596		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	63
597	P	BRG001	Brugada Syndrome	62
598	P	ACQ022	Acquired Generalized Lipodystrophy	53
599	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	51
600	c	CNG012	Congenital Generalized Lipodystrophy	48
601	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	45
602		FML091	Familial Tumoral Calcinosis	43
603		LCR013	Lacrimal Duct Defect	43
604	c	BRG005	Brugada Syndrome 1	41
605	P	VRT013	Vertigo, Benign Recurrent	37
606	c	GLL037	Guillain-Barre Syndrome, Familial	33
607	c	BRG007	Brugada Syndrome 5	32
608		ATS009	Autosomal Genetic Disease	31
609	c	BRG006	Brugada Syndrome 2	30
610	c	ERY065	Erythrocytosis, Familial, 7	26
611		GLC105	Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency	25
612	c	BRG003	Brugada Syndrome 3	25
613	c	ART134	Aortic Aneurysm, Familial Thoracic 10	22
614		PPL052	Papillomatosis, Confluent and Reticulated	22
615	c	BRG012	Brugada Syndrome 9	21
616	c	BRG009	Brugada Syndrome 7	20
617	c	BRG004	Brugada Syndrome 4	19
618	c	BRG010	Brugada Syndrome 8	18
619	c	EPL220	Epilepsy, Familial Focal, with Variable Foci 4	18
620	c	GZP004	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2	17
621	c	BRG008	Brugada Syndrome 6	17
622		CRR016	Cirrhosis, Familial	17
623	c	HYP563	Hyperpigmentation, Familial Progressive, 1	15
624	c	VRT008	Vertigo, Benign Recurrent, 2	7
625		YLN002	Y-Linked Monogenic Disease	3
626	c	HYP595	Hypertension, Essential	78
627	P	RTN024	Retinoblastoma	72
628	c	THR092	Thrombophilia Due to Thrombin Defect	69
629	P	DYS154	Dystonia	65
630		OVR029	Ovarian Hyperstimulation Syndrome	65
631	c	THR082	Thrombophilia Due to Activated Protein C Resistance	60
632	P	SHR029	Short Syndrome	59
633	P	LCH002	Lichen Planus	58
634		TTH002	Tooth Agenesis	55
635		HMZ003	Homozygous Familial Hypercholesterolemia	55
636	P	THR015	Thrombophilia	55
637	P	ACT008	Actinic Keratosis	54
638	P	DPY001	Dupuytren Contracture	53
639	P	LFT003	Left Ventricular Noncompaction	53
640		VTM027	Vitamin D-Dependent Rickets, Type 2a	53
641	P	OBS001	Obstructive Jaundice	53
642		HYP732	Hyperalphalipoproteinemia 1	53
643	c	CHL140	Chilblain Lupus 1	53
644		MCL027	Macular Dystrophy, Dominant Cystoid	52
645	P	BND018	Band Heterotopia	51
646	c	MLG069	Malignant Hypertension	50
647	P	RNL017	Renal Oncocytoma	48
648	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	48
649	P	KRT005	Keratoacanthoma	47
650	P	CLS010	Cluster Headache	46
651		BNG009	Benign Epilepsy with Centrotemporal Spikes	46
652	P	INT080	Intraocular Melanoma	45
653	c	DYS119	Dystonia 9	45
654	c	ANT077	Anterior Segment Dysgenesis 1	44
655	P	HYP083	Hypopituitarism	44
656	c	SHR030	Short Qt Syndrome	43
657	P	HMF004	Hemifacial Spasm	42
658	P	FML187	Familial Hypertension	42
659	c	CLR085	Colorectal Cancer 1	40
660		BRR012	Berardinelli-Seip Congenital Lipodystrophy	40
661	P	HYP120	Hypoaldosteronism	39
662	c	FML008	Familial Retinoblastoma	39
663	c	ANT086	Anterior Segment Dysgenesis 2	39
664	c	ANT071	Anterior Segment Dysgenesis 4	39
665	P	ORF002	Orofacial Cleft	39
666	c	MNS014	Monosomy 22	38
667		PDT014	Pediatric Ependymoma	38
668		SPN354	Spinal Arachnoiditis	37
669		FCT034	Factor V and Factor Viii, Combined Deficiency of, 2	37
670	c	PRN053	Porencephaly 1	36
671		NND010	Nondisjunction	36
672	c	FML294	Familial Short Qt Syndrome	35
673	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	33
674	P	ACT232	Acute Necrotizing Encephalopathy	33
675	P	GLM006	Glomangioma	31
676	c	VNT029	Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	30
677	c	VNT010	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	30
678		FML292	Familial Drusen	30
679	c	MLG039	Malignant Essential Hypertension	30
680		IDP085	Idiopathic Infantile Hypercalcemia	30
681	P	CRY006	Cryofibrinogenemia	30
682	c	HMF011	Hemifacial Spasm, Familial	29
683	c	ANT084	Anterior Segment Dysgenesis 3	28
684	c	MLG080	Malignant Secondary Hypertension	26
685	c	BNG021	Benign Essential Hypertension	26
686	c	ANT085	Anterior Segment Dysgenesis 5	25
687		HYP693	Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia	25
688	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	25
689	c	ANT083	Anterior Segment Dysgenesis 7	25
690	c	MYS062	Myasthenic Syndrome, Congenital, 2a, Slow-Channel	25
691		ALP047	Alport Syndrome and Thin Basement Membrane Nephropathy	24
692	c	FML223	Familial Keratoacanthoma	24
693	c	CLR077	Colorectal Cancer 10	24
694	P	FML305	Familial Abdominal Aortic Aneurysm	24
695		CRT064	Corticosterone Methyloxidase Deficiency	23
696	c	SHR031	Short Qt Syndrome 1	23
697	c	SHR032	Short Qt Syndrome 2	23
698	c	ART068	Aortic Aneurysm, Familial Thoracic 2	23
699	c	CLR075	Colorectal Cancer 3	23
700	c	DYS151	Dystonia 25	23
701		DRM041	Dermoid Cysts, Familial Frontonasal	23
702	P	MNS011	Monosomy 9q22.3	22
703	c	MNS008	Monosomy 21	22
704	c	CLR087	Colorectal Cancer 12	22
705	c	VNT027	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	22
706		LRY046	Laryngeal Web, Familial	22
707	P	FML337	Familial Chilblain Lupus	22
708	c	SCN048	Secondary Syringomyelia	22
709	c	GNS004	Geniospasm 1	21
710	c	SHR033	Short Qt Syndrome 3	21
711	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	21
712	c	LFT017	Left Ventricular Noncompaction 8	21
713	c	PRT045	Prothrombin-Related Thrombophilia	21
714	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	21
715	P	CNG070	Congenital Dislocation of the Patella	21
716	c	ORF027	Orofacial Cleft 11	20
717		PTR030	Pterygium of Conjunctiva and Cornea	20
718	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	20
719	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	20
720	c	ORF048	Orofacial Cleft 1	19
721	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	19
722	c	CHL114	Chilblain Lupus 2	19
723	c	HYP376	Hypouricemia, Renal, 2	19
724		FXL001	Foix-Alajouanine Syndrome	19
725	c	LFT018	Left Ventricular Noncompaction 10	19
726	c	ANT087	Anterior Segment Dysgenesis 6	18
727	c	ANT067	Anterior Segment Dysgenesis 8	18
728	c	FML028	Familial Renal Oncocytoma	18
729	c	ORF047	Orofacial Cleft 15	18
730		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	18
731	c	ANR027	Aneurysm, Intracranial Berry, 1	18
732		CRN258	Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	18
733		RTN211	Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract	17
734	c	MGR033	Migraine with or Without Aura 6	17
735		ZNC006	Zinc, Elevated Plasma	17
736	c	THR023	Thrombophilia Due to Thrombomodulin Defect	17
737	c	ORF031	Orofacial Cleft 14	16
738	c	ACT229	Acute Necrotizing Encephalopathy Type 1	16
739	c	ORF014	Orofacial Cleft 5	16
740	c	ORF025	Orofacial Cleft 6	16
741	c	ORF028	Orofacial Cleft 10	15
742	c	CLS053	Cluster Headache, Familial	15
743	c	ORF049	Orofacial Cleft 3	15
744	c	HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	15
745		FML315	Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia	14
746	c	ORF050	Orofacial Cleft 2	14
747	P	ALK019	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1	14
748	c	ORF029	Orofacial Cleft 13	14
749		IDP075	Idiopathic and/or Familial Pulmonary Arterial Hypertension	13
750	c	FML258	Familial Acute Necrotizing Encephalopathy	13
751	c	FML275	Familial Hypoaldosteronism	13
752	c	THR119	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	13
753	c	FML196	Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland	13
754	P	HRD194	Hereditary Geniospasm	12
755		ENT017	Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency	12
756	c	LCH017	Lichen Planus, Familial	12
757		ANH005	Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands	12
758		FML202	Familial Alzheimer-Like Prion Disease	12
759		ART142	Arteritis, Familial Granulomatous, with Juvenile Polyarthritis	12
760	c	KRT070	Keratosis, Familial Actinic	11
761	c	HYP452	Hypertension, Essential 6	11
762	c	ORF023	Orofacial Cleft 4	11
763	c	ORF024	Orofacial Cleft 9	11
764		ATR090	Atrophia Maculosa Varioliformis Cutis, Familial	11
765	c	ORF020	Orofacial Cleft 12	11
766	c	PRM168	Primary Syringomyelia	11
767	P	CHR636	Chorea, Benign Familial	11
768		OPH017	Ophthalmoplegia, Familial Total, with Iris Transillumination	11
769	c	HYP449	Hypertension, Essential 3	11
770	c	HYP450	Hypertension, Essential 4	11
771		FML079	Familial Nasal Acilia	11
772		ADR055	Adrenocortical Unresponsiveness to Acth with Postreceptor Defect	11
773		DFN343	Deafness, Congenital, and Familial Myoclonic Epilepsy	11
774	c	FML255	Familial Syringomyelia	10
775		CHR631	Choreoathetosis, Familial Inverted	10
776	c	HYP451	Hypertension, Essential 5	10
777	c	MRL006	Meralgia Paraesthetica, Familial	10
778		ALZ052	Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology	10
779		OPH016	Ophthalmoplegia, Familial Static	10
780		CHY007	Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase	10
781	c	ORF016	Orofacial Cleft 8	10
782		EDM003	Edema, Familial Idiopathic, Prepubertal	10
783	c	HYP453	Hypertension, Essential 7	10
784	c	HYP454	Hypertension, Essential 8	10
785	c	HYP448	Hypertension, Essential 2	10
786	c	HYP447	Hypertension, Essential 1	10
787		CLC061	Calcific Aortic Disease with Immunologic Abnormalities, Familial	10
788		CRD227	Cardiac Lipidosis, Familial	10
789		FML336	Familial Patent Arterial Duct	10
790	c	PTL011	Patella, Familial Recurrent Dislocation of	10
791	c	CRY033	Cryofibrinogenemia, Familial Primary	10
792	c	FML025	Familial Glomangioma	10
793	c	ART108	Aortic Aneurysm, Familial Abdominal, 4	9
794	c	HYP799	Hypouricemia, Familial Renal, Due to Tubular Hypersecretion	9
795		CNV019	Convulsive Disorder, Familial, with Prenatal or Early Onset	9
796		HST021	Histiocytosis, Familial Lipochrome	9
797		CNC019	Cancer, Familial, with in Vitro Radioresistance	9
798		ALP096	Alopecia, Familial Focal	9
799	c	JND003	Jaundice, Familial Obstructive, of Infancy	9
800		ANT082	Antithrombin, Familial Hemorrhagic Diathesis Due to	9
801	c	MLN068	Melanoma, Malignant Familial Intraocular	9
802		LGL002	Leg Ulcers, Familial, of Juvenile Onset	9
803		SPR121	Superior Transverse Scapular Ligament, Calcification of, Familial	8
804	c	FML072	Familial Hypopituitarism	8
805		MSC143	Muscle Cramps, Familial	8
806		STT047	Setting-Sun Phenomenon, Familial Benign	8
807		IDP082	Idiopathic Ventricular Fibrillation, Non Brugada Type	8
808		NSL026	Nasal Hyperpigmentation, Familial Transverse	8
809	c	CTC003	Catecholaminergic Polymorphic Ventricular Tachycardia 5	7
810		MCR339	Macrocytosis, Familial	7
811		LMB070	Lumbar Stenosis, Familial	7
812		PRP095	Priapism, Familial Idiopathic	7
813		STR098	Striae Distensae, Familial	7
814		NSL025	Nasal Groove, Familial Transverse	7
815		BND019	Bundle Branch Block, Familial Isolated Complete Right	7
816		AZT005	Azotemia, Familial	7
817		URT053	Urticaria, Familial Localized Heat	7
818		CRM011	Cramps, Familial Adolescent	7
819		BRD052	Broad Terminal Phalanges, Familial	7
820		FVR001	Fever, Familial Lifelong Persistent	7
821	c	APR002	Aip-Related Familial Isolated Pituitary Adenomas	7
822		CRY034	Cryptotia, Familial	6
823		INS028	Insulin Receptors, Familial Increase in	6
824		XLN202	X-Linked Acrogigantism Due to a Point Mutation	6
825	c	BNG034	Benign Secondary Hypertension	6
826		PCH021	Pachydermodactyly, Familial	6
827		BLN022	Blue Nevi, Familial Multiple	6
828	c	ALK020	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2	6
829		OST166	Osteoma of Cranial Vault, Familial	6
830	c	RRL001	Rare Lichen Planus	6
831		PNC125	Pancreatic Lymphoma, Familial	6
832		BNG066	Benign Familial Mesial Temporal Lobe Epilepsy	6
833		FML335	Familial Gastric Type 1 Neuroendocrine Tumor	5
834		FML194	Familial Clubfoot with or Without Associated Lower Limb Anomalies	5
835	c	ALK021	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3	5
836	c	ALK022	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4	5
837	c	FML317	Familial Monosomy 7 Syndrome	5
838		FML216	Familial Isolated Clinodactyly of Fingers	4
839		BRC118	Brachial Palsy, Familial Congenital	4
840		LSS038	Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia	4
841		FML224	Familial Idiopathic Dilatation of the Right Atrium	4
842		FML051	Familial Capillaro-Venous Leptomeningeal Angiomatosis	4
843	c	FML049	Familial Band Heterotopia	4
844	c	FML226	Familial Dupuytren Contracture	3
845		ADL092	Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome	3
846		FML200	Familial Omphalocele Syndrome with Facial Dysmorphism	3
847		FML047	Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension	2
848		FML074	Familial Interstitial Fibrosis	2
849	P	PRS040	Prostate Cancer	94
850		MYL069	Myeloma, Multiple	85
851	P	ATX030	Ataxia-Telangiectasia	84
852		ESP021	Esophageal Cancer	83
853	c	LKM061	Leukemia, Acute Myeloid	83
854		CYS001	Cystic Fibrosis	83
855		SQM013	Squamous Cell Carcinoma, Head and Neck	82
856	P	FNC027	Fanconi Anemia, Complementation Group a	82
857		NRL016	Neural Tube Defects	79
858	P	NNN008	Noonan Syndrome 1	79
859		PFF001	Pfeiffer Syndrome	78
860		IMM106	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked	77
861	P	PRK057	Parkinson Disease, Late-Onset	76
862		PLY001	Polycythemia Vera	76
863		KPS004	Kaposi Sarcoma	76
864	P	SRC025	Sarcoidosis 1	76
865	P	MLT020	Multiple Sclerosis	75
866	P	NRF023	Neurofibromatosis, Type Ii	75
867		MRF001	Marfan Syndrome	75
868	c	HMC039	Hemochromatosis, Type 1	74
869		APL001	Aplastic Anemia	74
870		NRF026	Neurofibromatosis, Type Iv, of Riccardi	74
871	c	LKM063	Leukemia, Chronic Myeloid	74
872		PHN003	Phenylketonuria	73
873	P	HRT032	Heart Disease	73
874	P	NRB001	Neuroblastoma	73
875		VNH007	Von Hippel-Lindau Syndrome	72
876	P	ALG028	Alagille Syndrome 1	72
877		ADR007	Adrenoleukodystrophy	72
878		KWS002	Kawasaki Disease	72
879	c	ATM006	Autoimmune Lymphoproliferative Syndrome	72
880		FBR012	Fabry Disease	72
881	P	DBT085	Diabetes Mellitus, Insulin-Dependent	72
882	P	LYN001	Lynch Syndrome	71
883	P	DMN001	Diamond-Blackfan Anemia	71
884	P	AGM001	Agammaglobulinemia	71
885	P	SPR120	Supranuclear Palsy, Progressive, 1	71
886	P	TYS001	Tay-Sachs Disease	70
887	c	HPT001	Hepatitis C	70
888	c	HPT016	Hepatitis B	70
889		MYL009	Myelodysplastic Syndrome	70
890	P	LPR021	Leprosy 3	70
891	P	FRG001	Fragile X Syndrome	70
892	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	70
893	P	TRN020	Turner Syndrome	69
894	P	ATS364	Autism	69
895		SMT004	Smith-Lemli-Opitz Syndrome	69
896		MYL005	Myelofibrosis	69
897	P	ALC004	Alcohol Abuse	69
898	P	HMP002	Hemophagocytic Lymphohistiocytosis	69
899	c	PRM196	Premature Ovarian Failure 1	69
900	P	PSD087	Pseudoxanthoma Elasticum	68
901	P	ORT004	Orthostatic Intolerance	68
902	P	DYS007	Dyskeratosis Congenita	68
903	P	LKM062	Leukemia, Acute Lymphoblastic	68
904	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	68
905		BRK010	Burkitt Lymphoma	68
906	P	KRB001	Krabbe Disease	68
907	c	TBR026	Tuberous Sclerosis 2	67
908		INC021	Incontinentia Pigmenti	67
909		LWC002	Lowe Oculocerebrorenal Syndrome	67
910		STH001	Saethre-Chotzen Syndrome	67
911	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	67
912		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	66
913	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	66
914	P	ASP006	Aspergillosis	66
915		CST001	Costello Syndrome	66
916	P	HYD006	Hydrocephalus	66
917	P	CRD224	Cardiofaciocutaneous Syndrome 1	66
918	c	GLY008	Glycogen Storage Disease Ii	66
919	P	KBK002	Kabuki Syndrome 1	66
920	P	HML033	Hemolytic Uremic Syndrome, Atypical 1	66
921	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	65
922	P	THL005	Thalassemia	65
923	P	CCK001	Cockayne Syndrome	65
924		TNG002	Tangier Disease	64
925	c	MCP050	Mucopolysaccharidosis, Type Ii	64
926	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	64
927		TBC004	Tobacco Addiction	64
928	P	DNG005	Dengue Virus	64
929	P	GCH001	Gaucher's Disease	64
930	P	MSC007	Muscle Hypertrophy	64
931	c	LBR014	Leber Congenital Amaurosis 4	63
932		WLL001	Williams-Beuren Syndrome	63
933	P	CRB048	Cerebral Cavernous Malformations	63
934	P	MCK013	Meckel Syndrome, Type 1	62
935	c	ATM082	Autoimmune Lymphoproliferative Syndrome, Type V	62
936		RFS006	Refsum Disease, Classic	62
937		LSC001	Lesch-Nyhan Syndrome	62
938		CRB011	Cerebrotendinous Xanthomatosis	62
939	P	SHW006	Shwachman-Diamond Syndrome 1	62
940	c	NMN016	Niemann-Pick Disease, Type B	62
941	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	62
942		NRR002	Norrie Disease	62
943	P	CRD132	Cardiac Conduction Defect	62
944	c	MCP049	Mucopolysaccharidosis, Type Vii	62
945		DRR014	Darier-White Disease	61
946	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
947	c	GCH015	Gaucher Disease, Type I	61
948	P	NMN002	Niemann-Pick Disease	61
949	P	WLF004	Wolfram Syndrome	61
950		LYS012	Lysosomal Acid Lipase Deficiency	61
951		ARG002	Argininosuccinic Aciduria	61
952		ALP103	Alpha-1-Antitrypsin Deficiency	61
953		ALC028	Alacrima, Achalasia, and Mental Retardation Syndrome	61
954		CFF002	Coffin-Lowry Syndrome	61
955		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	60
956	P	GLY013	Glycogen Storage Disease	60
957	P	NTR004	Neutropenia	60
958	c	MLT159	Multiple Endocrine Neoplasia, Type Iib	60
959	c	PRT132	Protoporphyria, Erythropoietic, 1	60
960		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	60
961	P	OCL013	Oculodentodigital Dysplasia	60
962	c	NNN010	Noonan Syndrome 3	59
963		NTH001	Netherton Syndrome	59
964	c	MNN047	Mannosidosis, Alpha B, Lysosomal	59
965	P	ART062	Arthrogryposis, Renal Dysfunction, and Cholestasis 1	59
966	P	CHL002	Childhood Absence Epilepsy	59
967		ABL002	Ablepharon-Macrostomia Syndrome	59
968		STR039	Sturge-Weber Syndrome	59
969	c	PRX045	Peroxisome Biogenesis Disorder 1b	59
970		LCR014	Lacrimoauriculodentodigital Syndrome	59
971	P	CRN108	Cranioectodermal Dysplasia 1	59
972	P	NRC002	Narcolepsy	59
973	c	CRN300	Coronary Heart Disease 1	59
974		GRN051	Granulomatous Disease, Chronic, X-Linked	58
975	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	58
976	P	HLL001	Hallermann-Streiff Syndrome	58
977		STS003	Sitosterolemia	58
978	c	CLR131	Ciliary Dyskinesia, Primary, 1	57
979	P	ATR010	Atrial Heart Septal Defect	57
980		ANN002	Anencephaly	57
981		HYP276	Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant	57
982		FCT003	Factor X Deficiency	57
983	P	ANG015	Angioedema	57
984		EXF001	Exfoliation Syndrome	57
985		MTC007	Mitochondrial Complex I Deficiency	57
986		PRP032	Porphyria Variegata	57
987		PRT082	Preterm Premature Rupture of the Membranes	57
988		KLP010	Klippel-Trenaunay-Weber Syndrome	57
989		HYP810	Hypereosinophilic Syndrome, Idiopathic	57
990	P	INF016	Infantile Epileptic Encephalopathy	57
991	c	ACT075	Acute Myocardial Infarction	56
992	c	WLF013	Wolfram Syndrome 1	56
993	P	ERY058	Erythrocytosis, Familial, 1	56
994	P	ICH004	Ichthyosis	56
995	P	AGG001	Aggressive Periodontitis	56
996	c	ANM036	Anemia, Sideroblastic, 1	56
997	P	VNB005	Van Buchem Disease	56
998	P	SPN052	Spondyloarthropathy	56
999	P	CNG010	Congenital Stationary Night Blindness	56
1000	P	HYP726	Hypercalcemia, Infantile, 1	55
1001		ASP002	Aspartylglucosaminuria	55
1002		CPR004	Coproporphyria, Hereditary	55
1003		HRL003	Hurler Syndrome	55
1004		OST024	Osteoporosis-Pseudoglioma Syndrome	55
1005	c	CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	55
1006	c	OST163	Osteopetrosis, Autosomal Recessive 3	55
1007		FCT001	Factor Viii Deficiency	55
1008	c	CRN139	Cornelia De Lange Syndrome 1	55
1009	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
1010		CHN055	Chanarin-Dorfman Syndrome	55
1011		MTC097	Mitochondrial Complex Iv Deficiency	54
1012	P	INF049	Infantile Myofibromatosis	54
1013		MLT135	Multiple Sulfatase Deficiency	54
1014	c	WRD033	Waardenburg Syndrome, Type 2e	54
1015		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	54
1016		ART002	Arts Syndrome	54
1017	c	GCH016	Gaucher Disease, Type Ii	54
1018	c	ACH041	Achondrogenesis, Type Ii	54
1019		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	54
1020	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	54
1021		RGH009	Right Atrial Isomerism	54
1022	P	PRM002	Primary Hyperoxaluria	53
1023		NRL018	Neural Tube Defects, Folate-Sensitive	53
1024		GNR004	Generalized Anxiety Disorder	53
1025	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	53
1026	c	CNT075	Central Precocious Puberty	53
1027	P	OPN001	Open-Angle Glaucoma	53
1028	P	GRS003	Griscelli Syndrome	53
1029	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	53
1030		TRS021	Triosephosphate Isomerase Deficiency	52
1031	c	PSR017	Psoriasis 2	52
1032		WDH003	Woodhouse-Sakati Syndrome	52
1033	c	THR045	Thrombotic Thrombocytopenic Purpura, Congenital	52
1034		GLC012	Galactosialidosis	52
1035	P	MYM013	Moyamoya Disease 1	52
1036	c	SCN036	Secondary Progressive Multiple Sclerosis	52
1037	P	ACT010	Acth-Secreting Pituitary Adenoma	52
1038	c	INV001	Invasive Aspergillosis	52
1039	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	52
1040	P	GNG025	Gingival Fibromatosis	52
1041	c	PRM108	Primary Progressive Multiple Sclerosis	52
1042	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	52
1043	c	FNC042	Fanconi Anemia, Complementation Group D2	52
1044		PRP082	Porphyria, Congenital Erythropoietic	52
1045		GLB021	Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies	52
1046		HYP741	Hyperparathyroidism 2 with Jaw Tumors	52
1047	P	BRS053	Breast Fibroadenoma	51
1048		DRR008	Diarrhea 1, Secretory Chloride, Congenital	51
1049	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	51
1050		CTY001	Cat Eye Syndrome	51
1051	c	GRN050	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	51
1052	c	ATS393	Autosomal Recessive Cutis Laxa Type I	51
1053		CCH002	Coach Syndrome	51
1054		BRT005	Barth Syndrome	51
1055		ACD008	Acid-Labile Subunit Deficiency	51
1056	P	ALT001	Alternating Hemiplegia of Childhood	51
1057		ENH001	Enhanced S-Cone Syndrome	51
1058	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	51
1059		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	51
1060	c	CCK007	Cockayne Syndrome B	51
1061	c	FRS014	Fraser Syndrome 1	50
1062		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	50
1063		ORT008	Orotic Aciduria	50
1064	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
1065		MLB001	Mulibrey Nanism	50
1066	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	50
1067		ALL001	Allan-Herndon-Dudley Syndrome	50
1068	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	50
1069	P	EPL116	Epileptic Encephalopathy, Childhood-Onset	50
1070	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	50
1071		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	49
1072	c	PRX059	Peroxisome Biogenesis Disorder 1a	49
1073	c	GCH017	Gaucher Disease, Type Iii	49
1074	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	49
1075		RVS001	Revesz Syndrome	49
1076		PLY112	Polyarteritis Nodosa, Childhood-Onset	49
1077		JHN001	Johanson-Blizzard Syndrome	49
1078	c	GRS014	Griscelli Syndrome, Type 2	49
1079	P	TYR004	Tyrosinemia	49
1080	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
1081	c	VNW008	Von Willebrand Disease, Type 3	49
1082	P	DNR001	Duane Retraction Syndrome	49
1083	c	MLT086	Multiple Endocrine Neoplasia, Type Iv	49
1084		FRB001	Farber Lipogranulomatosis	49
1085	P	FNC044	Fanconi Anemia, Complementation Group C	49
1086	P	ANL018	Analbuminemia	48
1087	c	NNN012	Noonan Syndrome 5	48
1088		RNP003	Renpenning Syndrome 1	48
1089		DNN001	Danon Disease	48
1090	c	BRD044	Bardet-Biedl Syndrome 17	48
1091	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	48
1092	c	ALB019	Albinism, Oculocutaneous, Type Iv	48
1093	c	SCH079	Schizophrenia 1	48
1094		ACR058	Acrofacial Dysostosis 1, Nager Type	48
1095	c	WRD020	Waardenburg Syndrome, Type 4a	48
1096		TRN022	Transcobalamin Ii Deficiency	48
1097	P	FNG006	Feingold Syndrome 1	48
1098	c	CRP023	Carpenter Syndrome 1	48
1099	P	PRK001	Porokeratosis	48
1100	P	MTH007	Methemoglobinemia	48
1101		MCR165	Microphthalmia with Limb Anomalies	48
1102	c	ANG068	Angioedema, Hereditary, Type I	48
1103	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	47
1104	P	BNG032	Benign Mesothelioma	47
1105	c	NRC009	Narcolepsy 1	47
1106		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	47
1107	c	OPT051	Opitz Gbbb Syndrome, Type I	47
1108	P	NNT009	Neonatal Diabetes Mellitus	47
1109	P	CHN059	Chondrocalcinosis	47
1110		SND002	Sneddon Syndrome	47
1111		LPP002	Lipoprotein Glomerulopathy	47
1112	c	BDY007	Body Mass Index Quantitative Trait Locus 1	47
1113		HRT031	Hartnup Disorder	47
1114		ATS010	Autosomal Recessive Disease	47
1115	c	USH021	Usher Syndrome, Type Iid	47
1116		RST011	Restrictive Dermopathy, Lethal	47
1117	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	47
1118	P	PSD003	Pseudohypoaldosteronism	47
1119	c	SCK009	Seckel Syndrome 1	47
1120	P	VSC013	Visceral Heterotaxy	47
1121	P	MWT001	Mowat-Wilson Syndrome	46
1122	c	WRD019	Waardenburg Syndrome, Type 4b	46
1123	P	NLX004	Neu-Laxova Syndrome 1	46
1124	c	WRD031	Waardenburg Syndrome, Type 3	46
1125		MNC019	Monocarboxylate Transporter 1 Deficiency	46
1126	c	HYD064	Hydrocephalus, Congenital, 1	46
1127	c	USH035	Usher Syndrome Type 2	46
1128		ALV007	Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins	46
1129		ATM052	Autoimmune Disease 1	46
1130	c	PSR028	Psoriasis 7	46
1131	P	WHT013	White Sponge Nevus 1	46
1132	c	HMC021	Hemochromatosis, Type 2a	46
1133	c	PSR032	Psoriasis 11	46
1134		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	46
1135		ATS008	Autosomal Dominant Disease	46
1136	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
1137		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	46
1138		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	46
1139	P	HYP087	Hypotrichosis	46
1140	c	SPH013	Spherocytosis, Type 1	46
1141	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	46
1142	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	45
1143	c	ERL020	Early-Onset Schizophrenia	45
1144	c	MYP072	Myopathy, Myofibrillar, 1	45
1145		CHN056	Chondrosarcoma, Extraskeletal Myxoid	45
1146		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	45
1147		MHR001	Mohr-Tranebjaerg Syndrome	45
1148		RBF001	Riboflavin Deficiency	45
1149	c	NML003	Nemaline Myopathy 2	45
1150	c	HYP507	Hypotrichosis 1	45
1151	c	PSR018	Psoriasis 13	45
1152	c	3MT015	3-Methylglutaconic Aciduria, Type I	45
1153	c	OPT050	Opitz Gbbb Syndrome, Type Ii	45
1154	c	GLY023	Glycogen Storage Disease Type 0	45
1155	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
1156	c	OTP007	Otopalatodigital Syndrome, Type Ii	45
1157	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	45
1158	c	BRC060	Brachydactyly, Type E2	45
1159	c	NML002	Nemaline Myopathy 1	44
1160	c	FNC047	Fanconi Anemia, Complementation Group Q	44
1161		PKL001	Poikiloderma with Neutropenia	44
1162		HYD058	Hydrops, Lactic Acidosis, and Sideroblastic Anemia	44
1163		HST017	Histiocytosis-Lymphadenopathy Plus Syndrome	44
1164	P	TRM004	Trimethylaminuria	44
1165	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	44
1166	c	BRD033	Bardet-Biedl Syndrome 13	44
1167		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	44
1168	c	MCK012	Meckel Syndrome, Type 6	44
1169	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	44
1170	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	44
1171	c	ACR116	Aicardi-Goutieres Syndrome 1	44
1172	c	NNN009	Noonan Syndrome 2	44
1173	c	FNC058	Fanconi Anemia, Complementation Group R	44
1174	c	HYP543	Hypoplastic Left Heart Syndrome 1	44
1175		PHS021	Phosphoglycerate Dehydrogenase Deficiency	44
1176		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	43
1177		NNC002	Nance-Horan Syndrome	43
1178	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	43
1179		NTR018	Neutrophilia, Hereditary	43
1180	c	DYS146	Dystonia 24	43
1181		HYP806	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	43
1182	c	BRD048	Bardet-Biedl Syndrome 18	43
1183	c	BRC062	Brachydactyly, Type D	43
1184	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	43
1185	c	RTN143	Retinitis Pigmentosa 47	43
1186	c	TYR011	Tyrosinemia, Type Iii	43
1187		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	43
1188		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	43
1189		RST023	Resting Heart Rate, Variation in	42
1190	c	ALB015	Albinism, Oculocutaneous, Type V	42
1191		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	42
1192		MRG013	Mirage Syndrome	42
1193	c	FNC056	Fanconi Anemia, Complementation Group V	42
1194		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	42
1195	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	42
1196	P	JVN024	Juvenile Hereditary Hemochromatosis	42
1197	c	NML005	Nemaline Myopathy 4	42
1198		MYP091	Myopathy, Congenital, with Fiber-Type Disproportion	42
1199	c	FNC052	Fanconi Anemia, Complementation Group T	42
1200		FRG010	Fragile X Tremor/ataxia Syndrome	42
1201		HYL004	Hyaline Fibromatosis Syndrome	42
1202		MYP139	Myopathy, Proximal, and Ophthalmoplegia	42
1203		VSC016	Vasculopathy, Retinal, with Cerebral Leukodystrophy	42
1204		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	42
1205	c	NML004	Nemaline Myopathy 3	42
1206		CRN285	Corneal Dystrophy, Fleck	42
1207		CHR382	Chromosome 18q Deletion Syndrome	42
1208	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	42
1209		SPN331	Spondyloocular Syndrome	42
1210	c	RTN160	Retinitis Pigmentosa 60	42
1211	P	XNT004	Xanthinuria	42
1212		MCR216	Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation	42
1213	c	BRD035	Bardet-Biedl Syndrome 15	42
1214	c	AMY069	Amyotrophic Lateral Sclerosis 21	42
1215	c	MCR263	Microphthalmia, Syndromic 1	42
1216	c	3MT014	3-Methylglutaconic Aciduria, Type V	42
1217	c	GLY098	Glycogen Storage Disease, Type Ixd	42
1218		HTR014	Heterotaxy, Visceral, 1, X-Linked	41
1219	c	FNC025	Fanconi Anemia, Complementation Group J	41
1220	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	41
1221		KBG001	Kbg Syndrome	41
1222		MYH012	Myhre Syndrome	41
1223	c	RTN050	Retinitis Pigmentosa 20	41
1224	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	41
1225	c	FNC045	Fanconi Anemia, Complementation Group F	41
1226	c	FNC029	Fanconi Anemia, Complementation Group I	41
1227	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	41
1228	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	41
1229	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	41
1230	c	CTR130	Cataract 9, Multiple Types	41
1231	c	PRM212	Primary Microcephaly	41
1232		GNT031	Genitopatellar Syndrome	41
1233		ALR002	Al-Raqad Syndrome	41
1234	c	FNC057	Fanconi Anemia, Complementation Group U	41
1235	c	HNT004	Huntington Disease-Like 2	41
1236	P	CNG003	Congenital Dyserythropoietic Anemia	41
1237	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	41
1238	P	DNT009	Dentin Dysplasia	41
1239	c	RTN177	Retinitis Pigmentosa 73	41
1240	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
1241		LYM029	Lymphedema-Distichiasis Syndrome	41
1242	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	41
1243	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	41
1244	c	GLL038	Galloway-Mowat Syndrome 1	40
1245	c	ALB016	Albinism, Oculocutaneous, Type Vii	40
1246	c	RTN172	Retinitis Pigmentosa 1	40
1247	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	40
1248	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
1249	c	SCK015	Seckel Syndrome 2	40
1250	c	RTN048	Retinitis Pigmentosa 19	40
1251	c	SCP001	Sc Phocomelia Syndrome	40
1252	c	FNC032	Fanconi Anemia, Complementation Group B	40
1253	P	DYS005	Dyslexia	40
1254	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
1255	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	40
1256	c	SPL034	Split-Hand/foot Malformation 4	40
1257	P	OCY003	Oocyte Maturation Defect 1	40
1258	c	LNG096	Long Qt Syndrome 15	40
1259	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	40
1260	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	40
1261	c	USH041	Usher Syndrome, Type if	40
1262		ATX038	Ataxia and Polyneuropathy, Adult-Onset	40
1263	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	40
1264	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	40
1265		SNL007	Senile Cataract	40
1266		INS034	Insulinomatosis and Diabetes Mellitus	40
1267	c	KNB006	Knobloch Syndrome 1	40
1268	c	ERL056	Early-Onset Parkinson's Disease	40
1269		CHR386	Chromosome 6pter-P24 Deletion Syndrome	40
1270	c	LNG057	Long Qt Syndrome 13	40
1271	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	40
1272		NNK001	Nonaka Myopathy	40
1273	c	VNM003	Van Maldergem Syndrome 1	40
1274		C1Q001	C1q Deficiency	40
1275	P	GNG010	Gangliosidosis Gm2	40
1276		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	40
1277		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	40
1278		PLY068	Polysubstance Abuse	40
1279	c	NNN011	Noonan Syndrome 4	40
1280	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	39
1281	c	RTS003	Ritscher-Schinzel Syndrome 1	39
1282	c	JBR015	Joubert Syndrome 6	39
1283	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	39
1284	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	39
1285	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	39
1286	c	RTN136	Retinitis Pigmentosa 44	39
1287		OVR093	Overhydrated Hereditary Stomatocytosis	39
1288		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	39
1289	c	NNN013	Noonan Syndrome 6	39
1290		CHR667	Chromosome 3pter-P25 Deletion Syndrome	39
1291	c	LKD008	Leukodystrophy, Hypomyelinating, 4	39
1292		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	39
1293	c	JBR024	Joubert Syndrome 14	39
1294		HYP550	Hypomagnesemia 1, Intestinal	39
1295	P	JVN008	Juvenile Glaucoma	39
1296		CRD229	Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism	39
1297		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	39
1298	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	39
1299	c	BRD032	Bardet-Biedl Syndrome 14	39
1300	P	PRT042	Parietal Foramina	39
1301		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	39
1302	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	39
1303	c	CTR118	Cataract 14, Multiple Types	39
1304	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	39
1305		GLC084	Glaucoma, Normal Tension	39
1306		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	39
1307	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	39
1308	c	CNR023	Cone-Rod Dystrophy 8	38
1309		DPH019	Diaphanospondylodysostosis	38
1310		HRL004	Hurler-Scheie Syndrome	38
1311	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	38
1312	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	38
1313	c	RTN142	Retinitis Pigmentosa 38	38
1314		RGD002	Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal	38
1315	c	RTN090	Retinitis Pigmentosa 55	38
1316	c	FNC023	Fanconi Anemia, Complementation Group N	38
1317	c	MCR124	Microphthalmia, Isolated 1	38
1318		MNT309	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1	38
1319	c	CTR115	Cataract 16, Multiple Types	38
1320	c	MCL016	Mucolipidosis Iii Gamma	38
1321	P	MCR364	Macrodactyly	38
1322	c	EPS017	Episodic Ataxia, Type 6	38
1323	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	38
1324	c	CNR016	Cone-Rod Dystrophy 7	38
1325	c	ZMM002	Zimmermann-Laband Syndrome 1	38
1326	c	OST126	Osteopetrosis, Autosomal Recessive 1	38
1327		SYN089	Syndromic X-Linked Intellectual Disability Snyder Type	38
1328	c	WRB005	Warburg Micro Syndrome 4	38
1329	c	RTN043	Retinitis Pigmentosa 13	38
1330		ATR013	Atrichia with Papular Lesions	38
1331		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	38
1332	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	38
1333		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	38
1334	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	38
1335	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	38
1336	c	MCP051	Mucopolysaccharidosis, Type Ix	38
1337	c	SPL070	Split-Hand/foot Malformation 2	38
1338	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	38
1339	c	FNC028	Fanconi Anemia, Complementation Group L	37
1340	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	37
1341	c	MCL066	Macular Dystrophy, Vitelliform, 2	37
1342		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	37
1343	c	HYP559	Hypotrichosis 8	37
1344	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
1345	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	37
1346	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	37
1347	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	37
1348	c	HYP581	Hypotrichosis 6	37
1349	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	37
1350		HYP540	Hypertension, Diastolic	37
1351	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	37
1352		GLY032	Glycosylphosphatidylinositol Deficiency	37
1353	c	USH042	Usher Syndrome, Type Ig	37
1354	c	INF086	Inflammatory Bowel Disease 3	37
1355	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	37
1356	c	NRC010	Narcolepsy 2	37
1357		EST007	Estrogen Resistance	37
1358		MND025	Mandibulofacial Dysostosis with Alopecia	37
1359	c	CTR170	Cataract 30, Multiple Types	37
1360		HYP110	Hyperproinsulinemia	37
1361	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	37
1362		WRS002	Warsaw Breakage Syndrome	37
1363	P	ANT061	Antenatal Bartter Syndrome	37
1364	c	WRD024	Waardenburg Syndrome, Type 4c	37
1365	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
1366		SLT014	Salt and Pepper Developmental Regression Syndrome	37
1367		FNC030	Fanconi Anemia, Complementation Group G	37
1368	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	37
1369	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	37
1370	c	BRT038	Baraitser-Winter Syndrome 1	37
1371	c	SPH016	Spherocytosis, Type 4	37
1372	c	MCK014	Meckel Syndrome, Type 5	37
1373		OGD001	Ogden Syndrome	37
1374	c	CTR098	Cataract 1, Multiple Types	37
1375		CHR387	Chromosome Xp21 Deletion Syndrome	37
1376		EPT021	Epithelial Recurrent Erosion Dystrophy	37
1377	c	SPR094	Sporadic Pheochromocytoma	36
1378		GLS018	Glass Syndrome	36
1379		NTR007	Neutral Lipid Storage Disease with Myopathy	36
1380	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	36
1381	c	CNG188	Congenital Disorder of Glycosylation, Type if	36
1382	c	NNN021	Noonan Syndrome 8	36
1383	c	HMN027	Hemangioma, Capillary Infantile	36
1384		CLR133	Colorblindness, Partial, Protan Series	36
1385	c	RTN066	Retinitis Pigmentosa 4	36
1386	c	ATS076	Autosomal Recessive Stickler Syndrome	36
1387	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	36
1388	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	36
1389	P	SPS008	Spastic Ataxia	36
1390		PRM087	Premature Chromatid Separation Trait	36
1391		OHD005	Ohdo Syndrome, Sbbys Variant	36
1392		SNG007	Sengers Syndrome	36
1393	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	36
1394		CRN212	Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome	36
1395		GPS001	Gapo Syndrome	36
1396		ALG027	Al-Gazali-Bakalinova Syndrome	36
1397	c	INF087	Inflammatory Bowel Disease 4	36
1398	c	PRK025	Parkinson Disease 10	36
1399		INF159	Infantile Sialic Acid Storage Disease	36
1400		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	36
1401	c	RTN186	Retinitis Pigmentosa 75	36
1402	c	CNR017	Cone-Rod Dystrophy 9	36
1403	P	GLP001	Geleophysic Dysplasia	36
1404	c	BRD045	Bardet-Biedl Syndrome 19	36
1405		SCR035	Sacral Agenesis with Vertebral Anomalies	36
1406	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	36
1407		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	36
1408	c	NNN024	Noonan Syndrome 9	36
1409		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	36
1410		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	36
1411		FLT009	Folate Malabsorption, Hereditary	36
1412	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	35
1413	c	GRN049	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	35
1414	c	ATR031	Atrial Septal Defect 4	35
1415		PTT045	Pituitary Hormone Deficiency, Combined, 1	35
1416	c	LBR007	Leber Congenital Amaurosis 12	35
1417		PRM056	Primrose Syndrome	35
1418		STL007	Steel Syndrome	35
1419	c	CTR122	Cataract 5, Multiple Types	35
1420	c	WRB003	Warburg Micro Syndrome 2	35
1421	c	LNG056	Long Qt Syndrome 12	35
1422	c	CNG379	Congenital Disorder of Glycosylation, Type It	35
1423	c	AML020	Amelogenesis Imperfecta, Type Iv	35
1424	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	35
1425		BRB006	Barber-Say Syndrome	35
1426	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	35
1427	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	35
1428		ACR043	Acromicric Dysplasia	35
1429	c	SPH014	Spherocytosis, Type 2	35
1430	c	SPL033	Split-Hand/foot Malformation 6	35
1431	c	PRM032	Primary Congenital Glaucoma	35
1432	c	RTN171	Retinitis Pigmentosa 59	35
1433	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	35
1434	c	SPH015	Spherocytosis, Type 3	35
1435		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	35
1436	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	35
1437	c	MCK033	Meckel Syndrome, Type 4	35
1438		TRM011	Terminal Osseous Dysplasia	35
1439	c	FNC048	Fanconi Anemia, Complementation Group O	35
1440		PRK003	Parkes Weber Syndrome	35
1441	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	35
1442	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	35
1443		CHR501	Chromosome 17q12 Deletion Syndrome	35
1444	c	RTN051	Retinitis Pigmentosa 22	35
1445		DBT007	Diabetic Cataract	35
1446	c	HRD173	Hereditary Late-Onset Parkinson Disease	35
1447		ATN014	Autoinflammation with Arthritis and Dyskeratosis	35
1448	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	35
1449	c	BRD047	Bardet-Biedl Syndrome 16	35
1450	c	MLG157	Malignant Pheochromocytoma	34
1451	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	34
1452	c	LPR022	Leprosy 2	34
1453	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	34
1454	c	CTR174	Cataract 40	34
1455	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	34
1456	P	3MT007	3-Methylglutaconic Aciduria	34
1457	P	SPC019	Specific Language Impairment	34
1458	P	CHR084	Chromosomal Disease	34
1459	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	34
1460	c	HRD142	Hereditary Xanthinuria	34
1461		LGN006	Legionnaire Disease	34
1462	c	PRC031	Preeclampsia/eclampsia 1	34
1463	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	34
1464	c	RTN055	Retinitis Pigmentosa 26	34
1465	c	GRN038	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii	34
1466	c	LBR011	Leber Congenital Amaurosis 16	34
1467	c	RTN165	Retinitis Pigmentosa 68	34
1468		ANT042	Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis	34
1469	c	CTR103	Cataract 4, Multiple Types	34
1470	c	KLF004	Kleefstra Syndrome 1	34
1471	c	RTN047	Retinitis Pigmentosa 18	34
1472	c	OVR075	Ovarian Dysgenesis 1	34
1473	c	RTN210	Retinitis Pigmentosa 50	34
1474	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	34
1475	c	RTN133	Retinitis Pigmentosa 43	34
1476		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	34
1477	c	RTN149	Retinitis Pigmentosa 42	34
1478	c	CTR141	Cataract 21, Multiple Types	34
1479	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	34
1480		IMM002	Immature Cataract	34
1481	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	34
1482		CLC008	Colchicine Resistance	34
1483	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	34
1484	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
1485	c	CNG195	Congenital Disorder of Glycosylation, Type Id	33
1486		CRT045	Creatine Phosphokinase, Elevated Serum	33
1487	c	SPL025	Split-Hand/foot Malformation 5	33
1488	c	GLP003	Geleophysic Dysplasia 1	33
1489	c	WLL036	Weill-Marchesani Syndrome 1	33
1490	c	DYS067	Dystonia 6, Torsion	33
1491	P	BCT020	Bacteremia 2	33
1492	c	THY084	Thyrotoxic Periodic Paralysis 1	33
1493	c	EPL133	Epilepsy, Juvenile Absence 1	33
1494	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	33
1495	c	BSL038	Basal Ganglia Calcification, Idiopathic, 1	33
1496		KLL014	Kelley-Seegmiller Syndrome	33
1497	c	MCK034	Meckel Syndrome, Type 8	33
1498		CRD220	Cardiac Valvular Defect, Developmental	33
1499	c	MYP079	Myopathy, Myofibrillar, 5	33
1500	c	RTN062	Retinitis Pigmentosa 33	33
1501	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	33
1502		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	33
1503		CRB081	Cerebellar Ataxia, Cayman Type	33
1504		GBT001	Gaba-Transaminase Deficiency	33
1505		CHR377	Chromosome 10q26 Deletion Syndrome	33
1506		OLV004	Oliver-Mcfarlane Syndrome	33
1507	c	SCH082	Schizophrenia 5	33
1508	P	WRB001	Warburg Micro Syndrome	33
1509	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	33
1510	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
1511	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	33
1512		HSD004	Hsd10 Mitochondrial Disease	33
1513	P	ATL001	Atelosteogenesis	33
1514		PHS022	Phosphoserine Phosphatase Deficiency	33
1515	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
1516		NGL001	Naegeli-Franceschetti-Jadassohn Syndrome	33
1517	c	AML057	Amelogenesis Imperfecta, Type Iiia	33
1518	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	33
1519		SDR009	Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay	33
1520		MCR096	Macrocephaly/autism Syndrome	33
1521	c	CTR125	Cataract 7	33
1522	c	JBR041	Joubert Syndrome 3	33
1523	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	33
1524	c	JBR025	Joubert Syndrome 17	33
1525	c	RTN059	Retinitis Pigmentosa 30	33
1526	c	AML017	Amelogenesis Imperfecta, Type Ib	33
1527	P	OMD003	Omodysplasia	33
1528	P	NNS031	Non-Syndromic Intellectual Disability	33
1529	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	33
1530		AST052	Asthma, Nasal Polyps, and Aspirin Intolerance	32
1531	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	32
1532	c	INF092	Inflammatory Bowel Disease 9	32
1533		MTC029	Mitochondrial Complex V Deficiency, Nuclear Type 1	32
1534	c	RTN056	Retinitis Pigmentosa 28	32
1535	P	ATR022	Atrial Septal Defect 3	32
1536		BRC004	Brachydactyly-Syndactyly Syndrome	32
1537	c	ALZ062	Alzheimer Disease 19	32
1538		CMP040	Complement Component 4, Partial Deficiency of	32
1539	c	RTN134	Retinitis Pigmentosa 40	32
1540	P	HNN005	Hennekam Lymphangiectasia-Lymphedema Syndrome 1	32
1541		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	32
1542		CMB020	Combined Saposin Deficiency	32
1543	c	CNR013	Cone-Rod Dystrophy 12	32
1544		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	32
1545	c	HYP515	Hypotrichosis 3	32
1546	c	PRD039	Periodontitis, Aggressive, 1	32
1547	c	CND011	Cone Dystrophy 3	32
1548		ANG049	Angioedema Induced by Ace Inhibitors	32
1549	c	CTR145	Cataract 44	32
1550	c	DMN021	Diamond-Blackfan Anemia 6	32
1551		SRC015	Sarcosinemia	32
1552	c	GLP004	Geleophysic Dysplasia 2	32
1553	c	APL023	Aplasia Cutis Congenita, Nonsyndromic	32
1554	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	32
1555	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	32
1556		CLD003	Cold-Induced Sweating Syndrome	32
1557		MCR237	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive	32
1558		ARL004	Aural Atresia, Congenital	32
1559	c	HYP562	Hypothyroidism, Congenital, Nongoitrous, 6	32
1560	c	RTN129	Retinitis Pigmentosa 49	32
1561	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	32
1562	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	31
1563		BSL037	Basal Laminar Drusen	31
1564		CMP089	Complement Component 6 Deficiency	31
1565	c	CNG199	Congenital Disorder of Glycosylation, Type Im	31
1566	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	31
1567	c	RTN131	Retinitis Pigmentosa 27	31
1568	c	RTN046	Retinitis Pigmentosa 17	31
1569	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
1570	c	RTN068	Retinitis Pigmentosa 6	31
1571	P	HYP700	Hypomyelinating Leukodystrophy	31
1572	c	WLL037	Weill-Marchesani Syndrome 2	31
1573	c	NNN025	Noonan Syndrome 10	31
1574	c	ATR062	Atrial Septal Defect 1	31
1575	c	SCH080	Schizophrenia 3	31
1576	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	31
1577		DSR012	Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency	31
1578	c	ACQ047	Acquired Methemoglobinemia	31
1579		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	31
1580		CRY019	Cryohydrocytosis	31
1581	c	RTN116	Retinitis Pigmentosa 56	31
1582	P	BST001	Bestrophinopathy	31
1583	c	GLC078	Glaucoma 1, Open Angle, F	31
1584		SVN002	Sveinsson Chorioretinal Atrophy	31
1585	c	BST008	Bestrophinopathy, Autosomal Recessive	31
1586	c	CTS031	Cutis Laxa, Autosomal Dominant 2	31
1587		PRT130	Protein Z Deficiency	31
1588	c	ATS307	Autosomal Recessive Cerebellar Ataxia	31
1589		CHT006	Chitayat Syndrome	31
1590	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	31
1591	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	31
1592	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	31
1593		TKN001	Takenouchi-Kosaki Syndrome	31
1594	c	THY083	Thyrotoxic Periodic Paralysis 2	31
1595	c	ACQ027	Acquired Cutis Laxa	31
1596	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	31
1597	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	31
1598	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	31
1599	c	CTR158	Cataract 37	31
1600		PKL002	Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis	31
1601	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	31
1602	c	CRN109	Cranioectodermal Dysplasia 2	31
1603		MYC071	Myoclonic-Atonic Epilepsy	31
1604	c	SCK011	Seckel Syndrome 5	31
1605		HRD073	Hereditary Myopathy with Early Respiratory Failure	31
1606		DRR017	Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies	31
1607		RBS005	Ribose 5-Phosphate Isomerase Deficiency	31
1608	c	MYT027	Myotonia Congenita, Autosomal Dominant	30
1609	c	RTN114	Retinitis Pigmentosa 58	30
1610	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	30
1611	c	LBR013	Leber Congenital Amaurosis 3	30
1612	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	30
1613	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	30
1614	P	BRW001	Brown-Vialetto-Van Laere Syndrome	30
1615		ALZ030	Alazami Syndrome	30
1616	c	USH031	Usher Syndrome, Type Ij	30
1617	c	GLY057	Glycogen Storage Disease X	30
1618	c	MYP080	Myopathy, Myofibrillar, 4	30
1619	c	NNS043	Nonsyndromic Retinitis Pigmentosa	30
1620	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	30
1621		GLT005	Glutamate Formiminotransferase Deficiency	30
1622	P	SPS012	Spastic Paraplegia 3a	30
1623	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	30
1624	c	RTN054	Retinitis Pigmentosa 25	30
1625	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	30
1626	c	SCK010	Seckel Syndrome 4	30
1627	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	30
1628	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	30
1629	c	RTN042	Retinitis Pigmentosa 12	30
1630	c	RTN152	Retinitis Pigmentosa 66	30
1631	c	ACR081	Aicardi-Goutieres Syndrome 6	30
1632	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	30
1633		PRT131	Partial Trisomy Distal 4q	30
1634	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	30
1635	P	DMN043	Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis	30
1636	c	STS007	Sotos Syndrome 2	30
1637	c	ERY062	Erythrokeratodermia Variabilis Et Progressiva 5	30
1638	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	30
1639	c	DYS139	Dyschromatosis Universalis Hereditaria 3	30
1640		PYR021	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	30
1641		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	30
1642		MCR183	Microcephaly-Capillary Malformation Syndrome	30
1643	c	NGH010	Night Blindness, Congenital Stationary, Autosomal Dominant 2	30
1644		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	30
1645	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	30
1646		WTT002	Witteveen-Kolk Syndrome	29
1647	c	PRX056	Peroxisome Biogenesis Disorder 11b	29
1648		ACR004	Acrokeratosis Verruciformis	29
1649		PLY110	Polymicrogyria, Bilateral Temporooccipital	29
1650	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	29
1651		GLL035	Gillessen-Kaesbach-Nishimura Syndrome	29
1652	P	ATX039	Ataxia-Pancytopenia Syndrome	29
1653	c	ART104	Arthrogryposis, Distal, Type 5d	29
1654		VND005	Van Den Ende-Gupta Syndrome	29
1655		MYP097	Myopathy with Lactic Acidosis, Hereditary	29
1656		DRR013	Diarrhea 8, Secretory Sodium, Congenital	29
1657	c	HRD186	Hereditary Spastic Paraplegia 51	29
1658	c	HYP577	Hypotrichosis 13	29
1659	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
1660	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	29
1661	c	RTN044	Retinitis Pigmentosa 14	29
1662	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	29
1663		LSC003	Luscan-Lumish Syndrome	29
1664	c	ERL012	Early-Onset Glaucoma	29
1665	c	USH030	Usher Syndrome, Type Ik	29
1666		ALZ029	Alzheimer Disease Mitochondrial	29
1667	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
1668	c	ATR066	Atrial Septal Defect 2	29
1669		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	29
1670		HYP267	Hyperchlorhidrosis, Isolated	29
1671	c	MTC074	Metachromatic Leukodystrophy, Adult Form	29
1672	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	29
1673	P	RTS001	Ritscher-Schinzel Syndrome	29
1674	P	CRN249	Cornea Plana	29
1675		PRP093	Pierpont Syndrome	29
1676	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	29
1677	c	TYP035	Type 1 Diabetes Mellitus 11	29
1678	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	29
1679		FLP001	Filippi Syndrome	29
1680	c	RBN008	Rubinstein-Taybi Syndrome 2	29
1681	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	29
1682	c	RTN150	Retinitis Pigmentosa 10	29
1683	c	GLY017	Glycogen Storage Disease Ic	29
1684	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	29
1685		BLR030	Bilirubin, Serum Level of, Quantitative Trait Locus 1	29
1686	c	EPS015	Episodic Ataxia, Type 7	29
1687	c	RTN057	Retinitis Pigmentosa 29	29
1688	P	DXT004	Dextro-Looped Transposition of the Great Arteries	29
1689	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	29
1690	c	NPH102	Nephrotic Syndrome, Type 14	29
1691	c	STR092	Striatal Degeneration, Autosomal Dominant 2	29
1692	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	29
1693	c	CTR175	Cataract 24	29
1694	c	JBR014	Joubert Syndrome 9	29
1695	c	PRX060	Peroxisome Biogenesis Disorder 5a	29
1696	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	29
1697		BMB001	Bombay Phenotype	29
1698	c	NNN020	Noonan Syndrome 7	29
1699	c	TYP037	Type 1 Diabetes Mellitus 13	29
1700	c	RTN053	Retinitis Pigmentosa 24	29
1701	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	28
1702		STR099	Striatonigral Degeneration, Infantile, Mitochondrial	28
1703	c	CRN133	Coronary Artery Disease, Autosomal Dominant, 1	28
1704	c	INC029	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1	28
1705		MYP071	Myopathy Due to Myoadenylate Deaminase Deficiency	28
1706	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	28
1707		CHT005	Chitotriosidase Deficiency	28
1708	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	28
1709	c	TYP032	Type 1 Diabetes Mellitus 6	28
1710	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	28
1711	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	28
1712	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	28
1713	c	INF089	Inflammatory Bowel Disease 6	28
1714	c	BRT039	Baraitser-Winter Syndrome 2	28
1715	P	TRC031	Trichorhinophalangeal Syndrome	28
1716	c	RTN106	Retinitis Pigmentosa 51	28
1717		CRB147	Cerebellofaciodental Syndrome	28
1718	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
1719	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	28
1720	c	CTR121	Cataract 25	28
1721	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	28
1722	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
1723	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	28
1724		LRY022	Laryngoonychocutaneous Syndrome	28
1725	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	28
1726	c	AMY089	Amyotrophic Lateral Sclerosis 7	28
1727	c	SYN084	Synpolydactyly 1	28
1728		MST021	Meester-Loeys Syndrome	28
1729	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	28
1730	c	SYM022	Symphalangism, Proximal, 1a	28
1731	P	DSB002	Desbuquois Dysplasia	28
1732	c	HYP565	Hypogonadotropic Hypogonadism 3 with or Without Anosmia	28
1733	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	28
1734	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	28
1735	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
1736		CHR399	Chromosome 4q21 Deletion Syndrome	28
1737	c	JBR012	Joubert Syndrome 5	28
1738	P	TRG016	Trigonocephaly 1	28
1739	P	SCP010	Scapuloperoneal Myopathy	28
1740		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	28
1741	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
1742	c	PST001	Posterior Myocardial Infarction	28
1743	c	INF078	Inflammatory Bowel Disease 2	28
1744		JVN012	Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome	28
1745		APL024	Apolipoprotein C-Iii Deficiency	28
1746	c	FNC062	Fanconi Anemia, Complementation Group S	28
1747		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	28
1748		PHS014	Phosphoglycerate Kinase 1 Deficiency	28
1749		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	28
1750	c	DBT054	Diabetes Mellitus, Insulin-Dependent, 24	28
1751		TTT001	Tatton-Brown-Rahman Syndrome	27
1752	c	PRX054	Peroxisome Biogenesis Disorder 12a	27
1753		SCH037	Schinzel-Giedion Midface Retraction Syndrome	27
1754	c	MYP105	Myopathy, Myosin Storage, Autosomal Dominant	27
1755	c	MYS067	Myasthenic Syndrome, Congenital, 22	27
1756	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	27
1757		PRK066	Parkinsonism with Spasticity, X-Linked	27
1758	c	JBR016	Joubert Syndrome 10	27
1759	c	LBR009	Leber Congenital Amaurosis 14	27
1760	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	27
1761	c	PNT039	Pontocerebellar Hypoplasia, Type 7	27
1762	c	TYP033	Type 1 Diabetes Mellitus 7	27
1763	c	ART122	Arthrogryposis, Distal, Type 8	27
1764	P	KNN002	Kenny-Caffey Syndrome	27
1765	c	SCH081	Schizophrenia 6	27
1766	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	27
1767	c	RTN052	Retinitis Pigmentosa 23	27
1768	c	CLR091	Ciliary Dyskinesia, Primary, 14	27
1769	c	INF075	Inflammatory Bowel Disease 16	27
1770	c	CTR124	Cataract 10, Multiple Types	27
1771	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
1772	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	27
1773	c	RTN146	Retinitis Pigmentosa 62	27
1774		KPP002	Keppen-Lubinsky Syndrome	27
1775		ANH003	Anhaptoglobinemia	27
1776		HYP823	Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome	27
1777		CLR132	Colorblindness, Partial, Deutan Series	27
1778	c	PRX050	Peroxisome Biogenesis Disorder 9b	27
1779	c	CRP022	Carpenter Syndrome 2	27
1780	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	27
1781	c	INF088	Inflammatory Bowel Disease 5	27
1782	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	27
1783	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	27
1784	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	27
1785		CMB017	Combined Oxidative Phosphorylation Deficiency 6	27
1786	c	LNG098	Long Qt Syndrome 14	27
1787		HYP808	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration	27
1788	c	MYP148	Myopathy, Centronuclear, 5	27
1789	c	PSD107	Pseudo-Torch Syndrome 2	27
1790	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	27
1791		CYN002	Cyanosis, Transient Neonatal	27
1792		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	27
1793	c	PRT060	Parietal Foramina 2	27
1794	c	INF122	Infantile Krabbe Disease	27
1795	c	MCR352	Microphthalmia, Isolated, with Coloboma 6	27
1796		SPC026	Specific Granule Deficiency 1	27
1797	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	27
1798	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	27
1799		PRT094	Protoporphyria, Erythropoietic, X-Linked	27
1800	P	INV008	Invasive Pneumococcal Disease, Recurrent Isolated, 1	27
1801	c	ANG045	Angioedema, Hereditary, Type Iii	27
1802	P	BRN076	Bronchiectasis with or Without Elevated Sweat Chloride 1	26
1803	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
1804		VCT005	Vacterl Association, X-Linked, with or Without Hydrocephalus	26
1805	c	PRR026	Perrault Syndrome 5	26
1806	c	DBT093	Diabetes Mellitus, Noninsulin-Dependent, 1	26
1807	c	MYC058	Myocardial Infarction 2	26
1808	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	26
1809		LKN008	Leukoencephalopathy, Cystic, Without Megalencephaly	26
1810		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	26
1811	c	OST120	Osteopetrosis, Autosomal Recessive 5	26
1812		GBR007	Gabriele-De Vries Syndrome	26
1813	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	26
1814	c	BRD050	Bardet-Biedl Syndrome 21	26
1815		DMT001	Dimethylglycine Dehydrogenase Deficiency	26
1816	c	ALB017	Albinism, Oculocutaneous, Type Vi	26
1817	c	KLP008	Klippel-Feil Syndrome 2, Autosomal Recessive	26
1818		MLR020	Malaria, Mild	26
1819	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
1820	c	SPH017	Spherocytosis, Type 5	26
1821	c	TYP028	Type 1 Diabetes Mellitus 2	26
1822	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	26
1823	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	26
1824	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	26
1825	c	GLL027	Gallbladder Disease 4	26
1826	c	FRN033	Frontonasal Dysplasia 2	26
1827	c	HTR009	Heterotaxy, Visceral, 2, Autosomal	26
1828		HMX003	Heme Oxygenase 1 Deficiency	26
1829		CNZ006	Coenzyme Q10 Deficiency, Primary, 1	26
1830		ELS006	Elsahy-Waters Syndrome	26
1831		MYS057	Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency	26
1832	c	AST056	Asthma-Related Traits 2	26
1833	c	RTN176	Retinitis Pigmentosa 71	26
1834		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	26
1835	P	AST055	Asthma-Related Traits 1	26
1836	P	GRN048	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative	26
1837	c	MCL078	Macular Degeneration, Age-Related, 14	26
1838	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	26
1839		ALK023	Al Kaissi Syndrome	26
1840	c	INF002	Inflammatory Diarrhea	26
1841		3MT008	3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	26
1842	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
1843	c	CTR166	Cataract 33, Multiple Types	26
1844	c	JBR031	Joubert Syndrome 21	26
1845	c	AMY055	Amyotrophic Lateral Sclerosis 17	26
1846		MTC030	Mitochondrial Complex V Deficiency, Nuclear Type 3	26
1847	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
1848		GLT028	Glutaric Aciduria Iii	26
1849	c	RTN169	Retinitis Pigmentosa 70	26
1850	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	26
1851	c	TRG015	Trigonocephaly 2	26
1852	c	CRN120	Corneal Dystrophy, Fuchs Endothelial, 3	26
1853	c	MRG015	Meier-Gorlin Syndrome 7	26
1854	c	HYP525	Hypotrichosis 2	26
1855	c	MCK028	Meckel Syndrome 13	26
1856		HST022	Histiocytoma, Angiomatoid Fibrous	26
1857	c	MYP127	Myopia 2, Autosomal Dominant	25
1858	c	DRR009	Diarrhea 6	25
1859	c	RTN190	Retinitis Pigmentosa 76	25
1860	c	NML022	Nemaline Myopathy 10	25
1861		LMB069	Lamb-Shaffer Syndrome	25
1862	c	DMN017	Diamond-Blackfan Anemia 10	25
1863	c	SPN418	Spinocerebellar Ataxia 44	25
1864	c	JBR013	Joubert Syndrome 8	25
1865	c	FBR050	Fibrosis of Extraocular Muscles, Congenital, 2	25
1866	c	KRT029	Keratoconus 1	25
1867	c	PRX043	Peroxisome Biogenesis Disorder 6b	25
1868	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	25
1869	c	TYP036	Type 1 Diabetes Mellitus 12	25
1870		XLN228	X-Linked Recessive Disease	25
1871	P	HRD144	Hereditary Mixed Polyposis Syndrome	25
1872	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	25
1873	c	MYP106	Myopathy, Myosin Storage, Autosomal Recessive	25
1874	c	DSB005	Desbuquois Dysplasia 2	25
1875	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	25
1876	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	25
1877		PGM007	Pigmented Paravenous Chorioretinal Atrophy	25
1878	c	GLY001	Glycogen Storage Disease Ix	25
1879	c	CRT085	Carotid Intimal Medial Thickness 2	25
1880	c	RTN060	Retinitis Pigmentosa 31	25
1881	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	25
1882	c	MRG010	Meier-Gorlin Syndrome 3	25
1883		VCT004	Vacterl Association with Hydrocephalus	25
1884	c	WLL040	Weill-Marchesani Syndrome 4	25
1885	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	25
1886	c	DMN022	Diamond-Blackfan Anemia 9	25
1887	c	CLR090	Ciliary Dyskinesia, Primary, 22	25
1888	c	KBK003	Kabuki Syndrome 2	25
1889		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	25
1890	c	PRK093	Parkinson Disease 8, Autosomal Dominant	25
1891	c	PRC047	Precocious Puberty, Central, 1	25
1892	c	CRN215	Cornelia De Lange Syndrome 4	25
1893	c	CWD008	Cowden Syndrome 6	25
1894		ECT076	Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency	25
1895	c	HYP444	Hypogonadotropic Hypogonadism 9 with or Without Anosmia	25
1896	c	PRX048	Peroxisome Biogenesis Disorder 10a	25
1897	c	ELL010	Elliptocytosis 1	25
1898		PRT043	Parietal Foramina with Cleidocranial Dysplasia	25
1899	c	CLR066	Ciliary Dyskinesia, Primary, 2	25
1900	c	PRX046	Peroxisome Biogenesis Disorder 7a	25
1901	c	CLR114	Ciliary Dyskinesia, Primary, 30	25
1902	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	25
1903		ECT033	Ectopia Lentis Et Pupillae	25
1904		CMP041	Complement Factor D Deficiency	25
1905	c	JBR030	Joubert Syndrome 22	25
1906	c	PRX091	Peroxisome Biogenesis Disorder 8a	25
1907	c	SPN259	Spinocerebellar Ataxia 32	25
1908	c	STR040	Stargardt Disease 3	25
1909	P	SPS225	Spastic Paralysis, Infantile-Onset Ascending	25
1910		ATR088	Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects	25
1911		SZR018	Seizures, Scoliosis, and Macrocephaly Syndrome	25
1912		PSD078	Pseudofolliculitis Barbae	25
1913	c	TYP031	Type 1 Diabetes Mellitus 5	25
1914		MRG001	Morgagni Cataract	25
1915		CMP094	Complement Component 4b Deficiency	25
1916	c	HYP552	Hypogonadotropic Hypogonadism 6 with or Without Anosmia	25
1917		CHR366	Chromosome 5p13 Duplication Syndrome	25
1918	c	PRX057	Peroxisome Biogenesis Disorder 4a	25
1919	c	SPN421	Spinocerebellar Ataxia 47	25
1920		EPP011	Epiphyseal Chondrodysplasia, Miura Type	25
1921		FBR094	Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement	25
1922	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	25
1923		ALP072	Alpha-Fetoprotein Deficiency	25
1924	c	FRN032	Frontonasal Dysplasia 3	25
1925	c	HYP531	Hypogonadotropic Hypogonadism 4 with or Without Anosmia	25
1926	c	HRM020	Hermansky-Pudlak Syndrome 10	25
1927	c	RTN178	Retinitis Pigmentosa 72	25
1928	c	SHR100	Short-Rib Thoracic Dysplasia 15 with Polydactyly	25
1929	c	RTN159	Retinitis Pigmentosa 45	25
1930	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	25
1931	c	MCK035	Meckel Syndrome, Type 10	25
1932		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	25
1933	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	25
1934		NTR013	Neutropenia, Nonimmune Chronic Idiopathic, of Adults	24
1935	c	PRX065	Peroxisome Biogenesis Disorder 3a	24
1936	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	24
1937		CHR379	Chromosome 15q26-Qter Deletion Syndrome	24
1938	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	24
1939	c	ERL003	Early Onset Absence Epilepsy	24
1940	c	MCR137	Microphthalmia, Isolated 2	24
1941	c	ATS370	Autism 3	24
1942	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	24
1943	c	MCL043	Macular Degeneration, Age-Related, 2	24
1944	c	CWD004	Cowden Syndrome 5	24
1945	c	HYP514	Hypogonadotropic Hypogonadism 8 with or Without Anosmia	24
1946	c	TYP027	Type 1 Diabetes Mellitus 10	24
1947	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	24
1948	c	PRX051	Peroxisome Biogenesis Disorder 6a	24
1949	c	PTT030	Pitt-Hopkins-Like Syndrome 2	24
1950		ZNC004	Zinc Deficiency, Transient Neonatal	24
1951	c	HYP532	Hypogonadotropic Hypogonadism 18 with or Without Anosmia	24
1952	P	VTM029	Vitamin D Hydroxylation-Deficient Rickets, Type 1b	24
1953	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	24
1954	c	VNM002	Van Maldergem Syndrome 2	24
1955	c	GLL040	Galloway-Mowat Syndrome 3	24
1956		KRT057	Keratosis Follicularis Spinulosa Decalvans, X-Linked	24
1957	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	24
1958	c	SPN323	Spinocerebellar Ataxia 41	24
1959	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	24
1960	c	OTF003	Otofaciocervical Syndrome 2	24
1961	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
1962	c	DYS145	Dystonia 23	24
1963	c	FRD006	Friedreich Ataxia 2	24
1964		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	24
1965	c	NGH027	Night Blindness, Congenital Stationary, Type 1c	24
1966	c	PRK094	Parkinson Disease 11, Autosomal Dominant	24
1967		VSD001	Vas Deferens, Congenital Bilateral Aplasia of, X-Linked	24
1968	c	CRN209	Cornelia De Lange Syndrome 5	24
1969	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	24
1970	c	ALZ045	Alzheimer Disease 9	24
1971	c	RTN064	Retinitis Pigmentosa 35	24
1972	c	JBR037	Joubert Syndrome 26	24
1973		LCT013	Lactase Deficiency, Congenital	24
1974	c	JBR018	Joubert Syndrome 4	24
1975		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	24
1976		CMB046	Combined Oxidative Phosphorylation Deficiency 11	24
1977	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	24
1978	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	24
1979	c	BRD051	Bardet-Biedl Syndrome 20	24
1980	c	SCK029	Seckel Syndrome 7	24
1981		SDH011	Sedoheptulokinase Deficiency	24
1982	c	FNG009	Feingold Syndrome 2	24
1983	c	WRB004	Warburg Micro Syndrome 3	24
1984	P	SHR085	Short-Rib Thoracic Dysplasia 14 with Polydactyly	24
1985	c	MCR228	Microphthalmia, Syndromic 13	24
1986	c	PRX052	Peroxisome Biogenesis Disorder 13a	24
1987	c	PRX058	Peroxisome Biogenesis Disorder 4b	24
1988	c	LTH047	Lethal Congenital Contracture Syndrome 3	24
1989	c	RTN147	Retinitis Pigmentosa 48	24
1990	P	PST016	Posterior Polar Cataract	24
1991	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	24
1992	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	24
1993	c	DMN019	Diamond-Blackfan Anemia 4	24
1994		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	24
1995	c	CNR032	Cone-Rod Dystrophy 21	24
1996	c	TYP038	Type 1 Diabetes Mellitus 15	24
1997		SKR001	Skraban-Deardorff Syndrome	24
1998		3HY011	3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	24
1999		CMB064	Combined Oxidative Phosphorylation Deficiency 24	24
2000	c	MYS056	Myasthenic Syndrome, Congenital, 17	24
2001	c	PRK052	Parkinson Disease 17	24
2002	c	ART131	Arthrogryposis, Distal, Type 4	24
2003	c	RTN067	Retinitis Pigmentosa 41	24
2004	c	SPS198	Spastic Paraplegia 16, X-Linked	24
2005		RTN174	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome	24
2006		MTH013	Methylmalonate Semialdehyde Dehydrogenase Deficiency	24
2007	c	BRW008	Brown-Vialetto-Van Laere Syndrome 2	24
2008	c	PRX062	Peroxisome Biogenesis Disorder 8b	24
2009		CHR586	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb	23
2010	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	23
2011	c	HMC019	Hemochromatosis, Type 2b	23
2012	c	BRC080	Brachydactyly, Type A1, B	23
2013	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	23
2014	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	23
2015	P	ADP010	Adiponectin, Serum Level of, Quantitative Trait Locus 1	23
2016	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	23
2017		PRT101	Poretti-Boltshauser Syndrome	23
2018		MTR001	Mature Cataract	23
2019	c	DMN024	Diamond-Blackfan Anemia 7	23
2020		HYP719	Hyperglycinemia, Lactic Acidosis, and Seizures	23
2021	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	23
2022	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	23
2023		GRW039	Growth Retardation, Developmental Delay, and Facial Dysmorphism	23
2024	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	23
2025	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	23
2026		MCR355	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy	23
2027	c	CLR094	Ciliary Dyskinesia, Primary, 28	23
2028	c	TRC100	Trichothiodystrophy 3, Photosensitive	23
2029	c	WLL038	Weill-Marchesani Syndrome 3	23
2030	c	MYP119	Myopathy, Myofibrillar, 7	23
2031	c	DMN018	Diamond-Blackfan Anemia 5	23
2032		GCH010	Gaucher Disease, Atypical, Due to Saposin C Deficiency	23
2033		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	23
2034		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	23
2035	c	LSS009	Lissencephaly 3	23
2036	c	MCR269	Microcephaly 15, Primary, Autosomal Recessive	23
2037	c	RTN085	Retinitis Pigmentosa 54	23
2038	c	PRM089	Premature Ovarian Failure 3	23
2039		FCL047	Facial Clefting, Oblique, 1	23
2040	P	DYS068	Dystonia 7, Torsion	23
2041	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	23
2042		CMP095	Complement Component 4a Deficiency	23
2043	c	CTR180	Cataract 22, Multiple Types	23
2044		HYP481	Hyperbiliverdinemia	23
2045	c	CRN135	Cornelia De Lange Syndrome 3	23
2046	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	23
2047		PYR025	Pyruvate Dehydrogenase E2 Deficiency	23
2048	c	NML007	Nemaline Myopathy 6	23
2049		3MC004	3mc Syndrome 3	23
2050	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	23
2051	c	MYP138	Myopia 3, Autosomal Dominant	23
2052	c	LBR010	Leber Congenital Amaurosis 15	23
2053	c	MCR109	Microphthalmia, Isolated 4	23
2054	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	23
2055	c	CRN242	Corneal Dystrophy, Fuchs Endothelial, 2	23
2056	c	SCK037	Seckel Syndrome 9	23
2057	c	NGH030	Night Blindness, Congenital Stationary, Type 1f	23
2058	c	WRD022	Waardenburg Syndrome, Type 2d	23
2059	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	23
2060	c	CFF011	Coffin-Siris Syndrome 6	23
2061	c	TRC103	Trichothiodystrophy 5, Nonphotosensitive	23
2062	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	23
2063	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	23
2064	P	CRN214	Coronary Heart Disease 5	23
2065	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	23
2066	c	ATS210	Autosomal Recessive Sideroblastic Anemia	23
2067	c	RTN144	Retinitis Pigmentosa 61	23
2068	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	23
2069	c	CTR131	Cataract 17, Multiple Types	23
2070		CMB045	Combined Oxidative Phosphorylation Deficiency 19	23
2071	c	LDD008	Liddle Syndrome 2	23
2072	c	CNG520	Congenital Heart Defects, Multiple Types, 6	23
2073	c	DYS138	Dystonia 21	23
2074	c	HYP578	Hypotrichosis 12	23
2075	c	MCR114	Microphthalmia, Isolated 3	23
2076	c	HYP511	Hypogonadotropic Hypogonadism 15 with or Without Anosmia	23
2077	c	CNG478	Congenital Diarrhea	23
2078	c	INF090	Inflammatory Bowel Disease 7	23
2079	c	SCK038	Seckel Syndrome 10	23
2080		STC017	Stickler Syndrome, Type I, Nonsyndromic Ocular	23
2081	c	PRK099	Parkinson Disease 18, Autosomal Dominant	23
2082	c	LKD028	Leukodystrophy, Hypomyelinating, 15	23
2083	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	23
2084	c	RTN213	Retinitis Pigmentosa 80	23
2085	c	46X030	46,xy Sex Reversal 9	23
2086	c	NNN027	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2	23
2087	c	HYP576	Hypotrichosis 4	23
2088	c	PRX047	Peroxisome Biogenesis Disorder 5b	23
2089	c	RTN141	Retinitis Pigmentosa 39	23
2090	c	ATR023	Atrial Septal Defect 5	23
2091	P	OVR076	Ovarian Dysgenesis 2	23
2092	c	JBR021	Joubert Syndrome 18	23
2093	c	HYP443	Hypogonadotropic Hypogonadism 13 with or Without Anosmia	23
2094	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	23
2095		DSN002	Desanto-Shinawi Syndrome	23
2096	c	ENC061	Encephalopathy, Acute, Infection-Induced 2	23
2097	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	23
2098	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	23
2099	c	MYP118	Myopathy, Myofibrillar, 8	23
2100	c	PRK070	Parkinson Disease 21	23
2101	c	HYP549	Hypogonadotropic Hypogonadism 5 with or Without Anosmia	23
2102	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	23
2103	c	LTH029	Lethal Congenital Contracture Syndrome 9	23
2104	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	23
2105	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	23
2106	c	HYP817	Hypogonadotropic Hypogonadism 21 with or Without Anosmia	23
2107	P	TTR028	Tetraamelia Syndrome 1	23
2108	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	23
2109		CNG437	Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay	23
2110		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	23
2111	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	23
2112		MRF019	Marfan Lipodystrophy Syndrome	22
2113	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	22
2114	c	LPR023	Leprosy 1	22
2115	c	DYS172	Dystonia 27	22
2116	c	JVN058	Juvenile-Onset Parkinson's Disease	22
2117	c	TRC073	Treacher Collins Syndrome 2	22
2118	c	EPS037	Episodic Ataxia, Type 4	22
2119	c	SPN419	Spinocerebellar Ataxia 45	22
2120	c	CFF006	Coffin-Siris Syndrome 5	22
2121	c	CLR105	Ciliary Dyskinesia, Primary, 20	22
2122	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	22
2123		LPY002	Lipoyltransferase 1 Deficiency	22
2124	c	PRM254	Premature Ovarian Failure 11	22
2125	c	CHR565	Chromosomal Deletion Syndrome	22
2126		KRT074	Keratoendotheliitis Fugax Hereditaria	22
2127	c	GLM025	Glioma Susceptibility 2	22
2128	P	XLN065	X-Linked Infantile Nystagmus	22
2129		CMB018	Combined Oxidative Phosphorylation Deficiency 7	22
2130	c	DYS185	Dystonia 13, Torsion, Autosomal Dominant	22
2131	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	22
2132	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	22
2133	c	NRC013	Narcolepsy 5	22
2134		MYP120	Myopathy, Distal, with Rimmed Vacuoles	22
2135	c	CNR021	Cone-Rod Dystrophy 10	22
2136	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	22
2137	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	22
2138	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	22
2139	c	46X058	46,xy Sex Reversal 10	22
2140	c	ATS371	Autism 6	22
2141	c	NLX003	Neu-Laxova Syndrome 2	22
2142	c	HYP820	Hypogonadotropic Hypogonadism 22 with or Without Anosmia	22
2143	c	CNR026	Cone-Rod Dystrophy 18	22
2144	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	22
2145	c	INF072	Inflammatory Bowel Disease 11	22
2146	c	VNT028	Ventricular Septal Defect 1	22
2147	c	MYP098	Myopathy, Centronuclear, 4	22
2148		SPS207	Spastic Paraplegia and Psychomotor Retardation with or Without Seizures	22
2149	c	CLR125	Ciliary Dyskinesia, Primary, 33	22
2150	c	HYP518	Hypogonadotropic Hypogonadism 16 with or Without Anosmia	22
2151		FCT032	Factor Xiii, a Subunit, Deficiency of	22
2152	c	NML010	Nemaline Myopathy 7	22
2153	c	DMN029	Diamond-Blackfan Anemia 11	22
2154	c	JBR040	Joubert Syndrome 30	22
2155	c	HYP546	Hypogonadotropic Hypogonadism 20 with or Without Anosmia	22
2156	c	RTN148	Retinitis Pigmentosa 63	22
2157	c	EHL065	Ehlers-Danlos Syndrome, Type V	22
2158	c	GLL041	Galloway-Mowat Syndrome 4	22
2159	c	MCR217	Microphthalmia, Syndromic 11	22
2160	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	22
2161	c	CLR095	Ciliary Dyskinesia, Primary, 19	22
2162	c	HYP713	Hypermanganesemia with Dystonia 2	22
2163	c	CTR165	Cataract 19, Multiple Types	22
2164		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	22
2165	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	22
2166	c	HML034	Hemolytic Uremic Syndrome, Atypical 3	22
2167	c	CLR126	Ciliary Dyskinesia, Primary, 35	22
2168	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	22
2169	c	EPL093	Epilepsy, Idiopathic Generalized 7	22
2170	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	22
2171	c	CTR184	Cataract 39, Multiple Types	22
2172	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	22
2173	c	46X017	46,xy Sex Reversal 6	22
2174		MYP149	Myopathy, Mitochondrial, and Ataxia	22
2175	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	22
2176	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	22
2177		CMB015	Combined Oxidative Phosphorylation Deficiency 4	22
2178		ATX023	Ataxia, Sensory, 1, Autosomal Dominant	22
2179	c	JVN034	Juvenile Polyposis of Infancy	22
2180	c	HTR018	Heterotaxy, Visceral, 7, Autosomal	22
2181	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	22
2182	c	CNR027	Cone-Rod Dystrophy 17	22
2183	c	RTN157	Retinitis Pigmentosa 37	22
2184	c	TRC078	Trichohepatoenteric Syndrome 2	22
2185	c	JBR022	Joubert Syndrome 20	22
2186	c	PRX066	Peroxisome Biogenesis Disorder 3b	22
2187	c	CLR104	Ciliary Dyskinesia, Primary, 15	22
2188	c	HML037	Hemolytic Uremic Syndrome, Atypical 5	22
2189	c	LBR029	Leber Congenital Amaurosis 17	22
2190	c	CNR025	Cone-Rod Dystrophy 15	22
2191	c	RTN117	Retinitis Pigmentosa 57	22
2192	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	22
2193	c	HML032	Hemolytic Uremic Syndrome, Atypical 4	22
2194	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	22
2195	c	CNR012	Cone-Rod Dystrophy 11	22
2196		CMB013	Combined Oxidative Phosphorylation Deficiency 2	22
2197	c	LSS030	Lissencephaly 7 with Cerebellar Hypoplasia	22
2198		RTN212	Retinal Dystrophy with or Without Macular Staphyloma	22
2199	c	CLR054	Ciliary Dyskinesia, Primary, 12	22
2200	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	22
2201	c	LTH030	Lethal Congenital Contracture Syndrome 8	22
2202		MYP099	Myopathy, Isolated Mitochondrial, Autosomal Dominant	22
2203	c	LKD027	Leukodystrophy, Hypomyelinating, 14	22
2204	c	HYP522	Hypogonadotropic Hypogonadism 11 with or Without Anosmia	22
2205	c	GLL042	Galloway-Mowat Syndrome 5	22
2206	c	CLR102	Ciliary Dyskinesia, Primary, 17	22
2207	c	BRC075	Brachydactyly, Type A1, C	22
2208		CHR502	Chromosome 17q12 Duplication Syndrome	22
2209	P	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	22
2210	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	22
2211	c	SHR116	Short-Rib Thoracic Dysplasia 20 with Polydactyly	22
2212	c	CRN147	Corneal Dystrophy, Fuchs Endothelial, 6	22
2213	c	LTH032	Lethal Congenital Contracture Syndrome 7	22
2214	c	JBR043	Joubert Syndrome 32	22
2215	c	CNR024	Cone-Rod Dystrophy 13	22
2216	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	22
2217	c	CLR042	Ciliary Dyskinesia, Primary, 6	22
2218	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	22
2219		CHR620	Chromosome 16p11.2 Deletion Syndrome, 220-Kb	22
2220	c	MCL030	Macular Degeneration, Age-Related, 10	22
2221	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	22
2222	c	PRM192	Premature Ovarian Failure 8	22
2223	c	MCK036	Meckel Syndrome, Type 9	22
2224	c	FNC061	Fanconi Anemia, Complementation Group W	22
2225	c	ATR034	Atrial Septal Defect 6	22
2226		MTC137	Mitochondrial Complex V Deficiency, Nuclear Type 4	22
2227	c	CTR116	Cataract 15, Multiple Types	22
2228		CMB049	Combined Oxidative Phosphorylation Deficiency 17	22
2229	c	RTN195	Retinitis Pigmentosa 79	22
2230	c	SCK033	Seckel Syndrome 8	22
2231		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	22
2232		CMB065	Combined Oxidative Phosphorylation Deficiency 26	22
2233	c	CLC055	Cole-Carpenter Syndrome 2	22
2234	c	MCR219	Microphthalmia, Isolated 8	22
2235	c	HML035	Hemolytic Uremic Syndrome, Atypical 2	21
2236	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	21
2237	c	HYP523	Hypogonadotropic Hypogonadism 14 with or Without Anosmia	21
2238		CRT069	Cortical Malformations, Occipital	21
2239		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	21
2240	c	CLR106	Ciliary Dyskinesia, Primary, 26	21
2241	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	21
2242		RNL118	Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness	21
2243		HYP711	Hypotonia, Ataxia, and Delayed Development Syndrome	21
2244	c	CTR182	Cataract 23, Multiple Types	21
2245	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	21
2246		CMP063	Complement Factor B Deficiency	21
2247		CNZ011	Coenzyme Q10 Deficiency, Primary, 8	21
2248	c	AML047	Amelogenesis Imperfecta, Type Ia	21
2249	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	21
2250	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	21
2251	c	TYP039	Type 1 Diabetes Mellitus 17	21
2252	c	DMN020	Diamond-Blackfan Anemia 8	21
2253	c	MRG009	Meier-Gorlin Syndrome 2	21
2254		DVL018	Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair	21
2255		DGT002	Digital Clubbing, Isolated Congenital	21
2256	c	NML021	Nemaline Myopathy 9	21
2257	c	RTN065	Retinitis Pigmentosa 36	21
2258	c	ELL005	Elliptocytosis 2	21
2259		LTH011	Lethal Arthrogryposis with Anterior Horn Cell Disease	21
2260		MCR321	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation	21
2261	c	GLM047	Glioma Susceptibility 3	21
2262	c	PRR021	Perrault Syndrome 4	21
2263	c	PRX089	Peroxisome Biogenesis Disorder 10b	21
2264	c	LTH031	Lethal Congenital Contracture Syndrome 6	21
2265		CMB044	Combined Oxidative Phosphorylation Deficiency 14	21
2266	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	21
2267	c	RTS002	Ritscher-Schinzel Syndrome 2	21
2268	c	46X056	46,xy Sex Reversal 5	21
2269		ACR096	Acromesomelic Dysplasia, Demirhan Type	21
2270	c	EPL212	Epileptic Encephalopathy, Infantile or Early Childhood, 1	21
2271	c	CLR117	Ciliary Dyskinesia, Primary, 32	21
2272	c	MYP088	Myopathy, Tubular Aggregate, 2	21
2273	c	BRC105	Brachydactyly, Type A1, D	21
2274	c	INF162	Inflammatory Bowel Disease 25	21
2275	c	MRG011	Meier-Gorlin Syndrome 4	21
2276	c	CTR105	Cataract 12, Multiple Types	21
2277	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	21
2278		MTC087	Mitochondrial Complex Iii Deficiency, Nuclear Type 4	21
2279	c	HYP521	Hypogonadotropic Hypogonadism 10 with or Without Anosmia	21
2280	c	NGH008	Night Blindness, Congenital Stationary, Autosomal Dominant 3	21
2281		CMB043	Combined Oxidative Phosphorylation Deficiency 9	21
2282		CMB016	Combined Oxidative Phosphorylation Deficiency 5	21
2283	c	SPS062	Spastic Paraplegia 34, X-Linked	21
2284	c	HYP557	Hypogonadotropic Hypogonadism 19 with or Without Anosmia	21
2285		CHR483	Chromosome 3q13.31 Deletion Syndrome	21
2286	c	CLR101	Ciliary Dyskinesia, Primary, 25	21
2287	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	21
2288	c	EXD010	Exudative Vitreoretinopathy 6	21
2289	c	SCH064	Schizophrenia 10	21
2290	c	STC012	Stickler Syndrome, Type Iv	21
2291	c	MRG014	Meier-Gorlin Syndrome 6	21
2292	c	CLR136	Ciliary Dyskinesia, Primary, 9	21
2293	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	21
2294		SPS190	Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly	21
2295	c	PLM127	Pulmonary Hypertension, Primary, 3	21
2296	c	46X047	46,xy Sex Reversal 7	21
2297	c	AGM021	Agammaglobulinemia 2, Autosomal Recessive	21
2298	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	21
2299	c	EPS033	Episodic Ataxia, Type 8	21
2300	c	CLR092	Ciliary Dyskinesia, Primary, 18	21
2301		RBN013	Robinow-Sorauf Syndrome	21
2302	c	MYP140	Myopia 17, Autosomal Dominant	21
2303	c	CNG404	Congenital Heart Defects, Multiple Types, 4	21
2304		ACT240	Actn3 Deficiency	21
2305	c	SYN088	Synpolydactyly 2	21
2306		CRN200	Craniosynostosis and Dental Anomalies	21
2307	c	CLR116	Ciliary Dyskinesia, Primary, 29	21
2308		MLT150	Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia	21
2309	c	CRS017	Crisponi/cold-Induced Sweating Syndrome 2	21
2310	c	VNT024	Ventricular Septal Defect 3	21
2311	c	AGM022	Agammaglobulinemia 3, Autosomal Recessive	21
2312	c	CLR098	Ciliary Dyskinesia, Primary, 27	21
2313	c	PRM207	Premature Ovarian Failure 10	21
2314	c	MCR272	Microcephaly and Chorioretinopathy, Autosomal Recessive, 3	21
2315	c	MCL051	Macular Degeneration, Age-Related, 12	21
2316		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	21
2317		SWN003	Sweeney-Cox Syndrome	21
2318	c	MCL071	Macular Dystrophy, Patterned, 2	21
2319		HRS016	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	21
2320		BRC106	Brachycephaly, Trichomegaly, and Developmental Delay	21
2321	c	JBR039	Joubert Syndrome 28	21
2322		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	21
2323	P	PTT054	Patterned Macular Dystrophy	21
2324	c	CTR163	Cataract 46, Juvenile-Onset	21
2325	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	21
2326	c	JBR045	Joubert Syndrome 33	21
2327	c	JBR028	Joubert Syndrome 13	21
2328	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	21
2329	P	NNP011	Nanophthalmos 2	21
2330	c	ATS369	Autism 8	21
2331	c	CTR159	Cataract 35	21
2332	c	SNR011	Senior-Loken Syndrome 3	21
2333	c	CWD009	Cowden Syndrome 7	21
2334	c	EPL200	Epilepsy, Childhood Absence 1	21
2335	c	JBR044	Joubert Syndrome 31	21
2336	c	SNR015	Senior-Loken Syndrome 8	21
2337	c	HYD040	Hydrolethalus Syndrome 2	21
2338	c	HYP538	Hypogonadotropic Hypogonadism 17 with or Without Anosmia	21
2339	c	PLM121	Pulmonary Hypertension, Primary, 4	21
2340	c	THR096	Three M Syndrome 3	21
2341		MYS016	Myosclerosis, Autosomal Recessive	21
2342		GRW027	Growth Restriction, Severe, with Distinctive Facies	21
2343	c	RTN192	Retinitis Pigmentosa 77	21
2344	c	CLR099	Ciliary Dyskinesia, Primary, 16	21
2345	P	PRX064	Peroxisome Biogenesis Disorder 2b	21
2346	c	BRC053	Brachyolmia Type 2	21
2347	c	ANR046	Aniridia 3	21
2348	c	CRD163	Cardiofaciocutaneous Syndrome 2	21
2349	c	MCK020	Meckel Syndrome, Type 11	21
2350	c	EPL084	Epilepsy, Idiopathic Generalized 11	21
2351	c	BLP049	Blepharocheilodontic Syndrome 2	20
2352		PRX090	Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy	20
2353		MYP038	Myopathy, Congenital, Compton-North	20
2354	c	ATS367	Autism X-Linked 3	20
2355		TNR001	Tenorio Syndrome	20
2356	c	ANM034	Anemia, Sideroblastic, 4	20
2357		DBT020	Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans	20
2358	c	PLM128	Pulmonary Hypertension, Primary, 2	20
2359	c	MRG012	Meier-Gorlin Syndrome 5	20
2360	c	STC011	Stickler Syndrome, Type V	20
2361		MCR353	Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome	20
2362	c	AGM020	Agammaglobulinemia 6, Autosomal Recessive	20
2363	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	20
2364		FNC060	Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young	20
2365		MTH040	Methylmalonyl-Coa Epimerase Deficiency	20
2366	c	AGM023	Agammaglobulinemia 4, Autosomal Recessive	20
2367	c	DYS121	Dyslexia 1	20
2368	c	MYP146	Myopia 15, Autosomal Dominant	20
2369	c	LPR007	Leopard Syndrome 3	20
2370	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	20
2371	c	EPS034	Episodic Ataxia, Type 5	20
2372	c	JBR038	Joubert Syndrome 27	20
2373	c	EXD007	Exudative Vitreoretinopathy 3	20
2374	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	20
2375	c	CLR088	Ciliary Dyskinesia, Primary, 21	20
2376	c	AML048	Amelogenesis Imperfecta, Type Ih	20
2377	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	20
2378	c	DMN028	Diamond-Blackfan Anemia 12	20
2379		AML014	Amelogenesis Imperfecta, Hypomaturation Type, Iia2	20
2380		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	20
2381	c	CLR059	Ciliary Dyskinesia, Primary, 13	20
2382		RHN013	Rh-Null, Regulator Type	20
2383		FCT033	Factor Xiii, B Subunit, Deficiency of	20
2384		SHR065	Short Stature with Microcephaly and Distinctive Facies	20
2385	c	CTR183	Cataract 38	20
2386	c	ARC011	Auriculocondylar Syndrome 2	20
2387		SDD009	Sudden Cardiac Failure, Infantile	20
2388	c	BRN075	Bronchiectasis with or Without Elevated Sweat Chloride 2	20
2389	c	ART102	Arterial Calcification, Generalized, of Infancy, 2	20
2390	c	SNR004	Senior-Loken Syndrome 4	20
2391	c	NGH022	Night Blindness, Congenital Stationary, Type 1g	20
2392	c	TRC117	Trichothiodystrophy 6, Nonphotosensitive	20
2393	c	ART060	Arthrogryposis, Distal, Type 1b	20
2394	c	CNR030	Cone-Rod Dystrophy 20	20
2395		CNR033	Cone-Rod Synaptic Disorder, Congenital Nonprogressive	20
2396	c	HYP762	Hypothyroidism, Congenital, Nongoitrous, 5	20
2397		CMP091	Complement Component C1s Deficiency	20
2398	c	CTR097	Cataract 34, Multiple Types	20
2399		PHS029	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	20
2400		RTN216	Retinitis Pigmentosa 82 with or Without Situs Inversus	20
2401		ALP088	Alpha-Fetoprotein, Hereditary Persistence of	20
2402	c	SCH045	Schizophrenia 12	20
2403		CNG501	Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder	20
2404	c	CRN143	Corneal Dystrophy, Fuchs Endothelial, 4	20
2405	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	20
2406	c	ATS365	Autism X-Linked 1	20
2407	c	EPL086	Epilepsy, Idiopathic Generalized 9	20
2408		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	20
2409	c	ALT007	Alternating Hemiplegia of Childhood