Genetic Diseases Category (8972 diseases)

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

#	Family	MCID	Name	MIFTS
1	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	67
2	P	HRD207	Hereditary Transthyretin Amyloidosis	32
3	c	BNG006	Benign Familial Neonatal Epilepsy	53
4	P	NNT056	Neonatal Epilepsy Syndrome	5
5	c	LPD040	Lipodystrophy, Familial Partial, Type 1	39
6	P	MTR080	Mitral Valve Prolapse 1	34
7	c	MTR077	Mitral Valve Prolapse 2	26
8	c	MTR083	Mitral Valve Prolapse 3	21
9	c	PRM012	Primary Polycythemia	57
10	P	PLY018	Polycythemia	55
11	c	PRG126	Progressive Familial Heart Block	53
12	c	FML363	Familial Adult Myoclonic Epilepsy	44
13	c	ACQ010	Acquired Polycythemia	43
14	P	FML279	Familial Isolated Arrhythmogenic Right Ventricular Dysplasia	33
15	c	ATS209	Autosomal Dominant Secondary Polycythemia	23
16	c	CNG266	Congenital Secondary Polycythemia	9
17	c	ACQ028	Acquired Secondary Polycythemia	9
18	c	PLY005	Polycythemia Due to Hypoxia	6
19	P	CRD132	Cardiac Conduction Defect	61
20	c	PRG047	Progressive Familial Intrahepatic Cholestasis	58
21	c	CRB051	Cerebral Cavernous Malformation, Familial	38
22	c	FML250	Familial Progressive Cardiac Conduction Defect	29
23		RGH011	Right Pulmonary Artery, Anomalous Origin of, Familial	13
24	P	EPL164	Epilepsy	71
25	P	BNG026	Benign Neonatal Seizures	51
26	c	BNG023	Benign Familial Infantile Epilepsy	49
27	c	INF185	Infantile Epilepsy Syndrome	32
28	c	ATM114	Autoimmune Epilepsy	29
29	c	RRP028	Rare Epilepsy	16
30	c	KCN020	Kcnt1-Related Epilepsy	14
31	c	DPD002	Depdc5-Related Epilepsy	13
32	c	INF177	Inflammatory and Autoimmune Disease with Epilepsy	5
33	c	INF176	Infectious Disease with Epilepsy	4
34	c	FBR074	Febrile Seizures, Familial, 6	29
35		CNV009	Convulsions Benign Familial Neonatal Dominant Form	27
36	c	FBR071	Febrile Seizures, Familial, 5	27
37	c	FBR068	Febrile Seizures, Familial, 10	19
38	P	NTR004	Neutropenia	61
39	c	SVR003	Severe Congenital Neutropenia	58
40	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	51
41	c	SVR107	Severe Congenital Neutropenia 3	44
42	c	SVR110	Severe Congenital Neutropenia 4	39
43	c	SVR106	Severe Congenital Neutropenia 5	37
44	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	37
45	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	36
46	c	ATS483	Autosomal Dominant Severe Congenital Neutropenia	33
47	c	NTR054	Neutropenia, Severe Congenital, 8, Autosomal Dominant	33
48	c	SVR104	Severe Congenital Neutropenia 7	31
49	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	30
50	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	29
51	c	SVR109	Severe Congenital Neutropenia 8	28
52	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	27
53		VSC049	Visceral Myopathy, Familial, with External Ophthalmoplegia	26
54	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	25
55	c	SVR108	Severe Congenital Neutropenia 6	25
56	c	NTR056	Neutropenia, Severe Congenital, 9, Autosomal Dominant	23
57	c	NTR045	Neutropenia, Chronic Familial	22
58	c	SVR103	Severe Congenital Neutropenia 1	20
59		SYN062	Syncope, Familial Vasovagal	19
60	c	ACQ053	Acquired Neutropenia	17
61	c	ATS450	Autosomal Recessive Severe Congenital Neutropenia	17
62	c	SVR105	Severe Congenital Neutropenia 2	16
63	c	ELN001	Elane-Related Neutropenia	13
64	c	FML001	Familial Atrial Fibrillation	67
65	P	FRT001	Fourth Cranial Nerve Palsy	31
66		JNT001	Joint Laxity, Familial	26
67	c	FRT006	Fourth Cranial Nerve Palsy, Familial Congenital	17
68	P	FBR031	Febrile Seizures	52
69	P	ATT003	Attenuated Familial Adenomatous Polyposis	43
70	c	FBR073	Febrile Seizures, Familial, 1	32
71		DRM050	Dermographism, Familial	29
72	c	FBR067	Febrile Seizures, Familial, 9	26
73	c	FML309	Familial Infantile Bilateral Striatal Necrosis	23
74	c	FBR076	Febrile Seizures, Familial, 7	22
75	c	SZR011	Seizures, Benign Familial Infantile, 4	12
76	c	PRM005	Primary Hyperparathyroidism	58
77	P	FML023	Familial Hemiplegic Migraine	54
78	P	PRD021	Periodic Paralysis	43
79		FML307	Familial Calcium Pyrophosphate Deposition	40
80	P	FML156	Familial Hyperaldosteronism	30
81	c	FML213	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form	25
82		CPP001	Copper Deficiency, Familial Benign	20
83		FML254	Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion	18
84		MYL018	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	13
85	P	FML052	Familial Cold Autoinflammatory Syndrome	55
86	c	ERL029	Early-Onset, Autosomal Dominant Alzheimer Disease	52
87	P	PRN026	Porencephaly	49
88	P	VRT013	Vertigo, Benign Recurrent	48
89	c	FML084	Familial Porencephaly	30
90	P	FML313	Familial Progressive Hyperpigmentation	19
91	c	VRT008	Vertigo, Benign Recurrent, 2	10
92	c	ACQ029	Acquired Porencephaly	9
93	c	ART138	Aortic Aneurysm, Familial Abdominal, 1	63
94	c	LPM012	Lipomatosis, Multiple	60
95	P	CND004	Candidiasis	58
96	P	LPM005	Lipomatosis	46
97	c	FML350	Familial Febrile Seizures	32
98		THY106	Thyroglossal Duct Cyst, Familial	29
99	c	CND033	Candidiasis, Familial, 1	28
100	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	27
101		FML206	Familial Cerebral Saccular Aneurysm	25
102	c	FML348	Familial Pityriasis Rubra Pilaris	24
103		LNT008	Lentiginosis, Inherited Patterned	22
104		GGN006	Gigantiform Cementoma, Familial	21
105	c	FML334	Familial Candidiasis	17
106	c	FCL065	Facial Palsy, Familial Recurrent Peripheral	16
107		DWR023	Dwarfism, Familial, with Muscle Spasms	14
108	c	FML155	Familial Acute Myeloid Leukemia with Mutated Cebpa	13
109		SYN087	Synovial Chondromatosis, Familial, with Dwarfism	12
110		GNV002	Genu Valgum, St. Helena Familial	12
111	P	RCR003	Recurrent Peripheral Facial Palsy	9
112	P	ACT271	Acute Myeloid Leukemia with Mutated Cebpa	8
113	P	PRP003	Porphyria Cutanea Tarda	68
114	P	AMY004	Amyloidosis	66
115	P	HYP097	Hyperekplexia	61
116		LPM010	Lipomatosis, Multiple Symmetric	45
117	P	INT260	Intracranial Berry Aneurysm	42
118	c	HRD039	Hereditary Amyloidosis	42
119		LRY047	Laryngeal Abductor Paralysis	33
120	c	FML324	Familial Porphyria Cutanea Tarda	32
121	c	PRP091	Porphyria Cutanea Tarda, Type I	32
122		DCR010	Dicer1 Tumor Predisposition	23
123		CLL041	Collagenoma, Familial Cutaneous	23
124		CRN069	Corneal Hypesthesia, Familial	20
125		MCR031	Macrocephaly, Benign Familial	19
126	c	PRM150	Primary Localized Amyloidosis	18
127	c	ART152	Aortic Aneurysm, Familial Abdominal, 3	15
128	c	SZR024	Seizures, Benign Familial Neonatal, Autosomal Recessive	12
129		OSS006	Ossicular Malformations, Familial	11
130		CBP001	Cebpa-Associated Familial Acute Myeloid Leukemia	10
131		FML086	Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect	7
132	c	RRF013	Rare Familial Disorder with Hypertrophic Cardiomyopathy	7
133		FML088	Familial Streblodactyly	6
134	P	ANT006	Antiphospholipid Syndrome	55
135	P	HYP076	Hyperthyroidism	53
136		STT041	Stuttering	53
137	c	GNR043	Generalized Epilepsy with Febrile Seizures Plus, Type 7	47
138	P	HYP078	Hypertrophy of Breast	47
139	c	FML053	Familial Colorectal Cancer	45
140	P	FML186	Familial Paroxysmal Nonkinesigenic Dyskinesia	41
141	c	CLR077	Colorectal Cancer 10	34
142	c	FML067	Familial Hyperthyroidism Due to Mutations in Tsh Receptor	34
143	c	CLR087	Colorectal Cancer 12	34
144	c	GNR034	Generalized Epilepsy with Febrile Seizures Plus, Type 9	33
145	c	CLR085	Colorectal Cancer 1	33
146	c	CLR075	Colorectal Cancer 3	31
147	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	27
148		HYP197	Hypofibrinogenemia, Familial	26
149	c	GNR046	Generalized Epilepsy with Febrile Seizures Plus, Type 10	25
150		PTL010	Patella Aplasia-Hypoplasia	24
151	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	23
152		ESN023	Eosinophilia, Familial	23
153	c	ANT041	Antiphospholipid Syndrome, Familial	21
154	c	CLR079	Colorectal Cancer 2	21
155	c	CLR080	Colorectal Cancer 5	20
156	c	HYP678	Hypertrophy of the Breast, Juvenile	20
157	c	CLR083	Colorectal Cancer 8	19
158	c	CLR082	Colorectal Cancer 7	18
159	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	17
160	c	CLR081	Colorectal Cancer 6	17
161	c	CLR078	Colorectal Cancer 11	16
162	c	CLR084	Colorectal Cancer 9	16
163	c	RRH008	Rare Hyperthyroidism	8
164	P	APL001	Aplastic Anemia	74
165	P	VSC005	Vesicoureteral Reflux	50
166	P	THY061	Thyroid Dyshormonogenesis 2a	46
167	P	FML361	Familial Woolly Hair Syndrome	44
168	c	FML297	Familial Thyroid Dyshormonogenesis	44
169	c	THY071	Thyroid Dyshormonogenesis 1	36
170	c	THY063	Thyroid Dyshormonogenesis 4	36
171	c	THY056	Thyroid Dyshormonogenesis 3	35
172	c	THY110	Thyroid Dyshormonogenesis 6	35
173	P	HYP120	Hypoaldosteronism	35
174	c	WLL018	Woolly Hair, Autosomal Dominant	31
175		NPP006	Nipples, Supernumerary	31
176	c	VSC019	Vesicoureteral Reflux 1	30
177		ACT256	Actg2 Visceral Myopathy	26
178	c	THY062	Thyroid Dyshormonogenesis 5	26
179	c	VSC025	Vesicoureteral Reflux 3	25
180	c	VSC020	Vesicoureteral Reflux 2	25
181	c	WLL035	Woolly Hair, Autosomal Recessive 3	25
182		CLL039	Collagenosis, Familial Reactive Perforating	24
183	P	FML367	Familial Hypercholanemia	24
184	c	VSC046	Vesicoureteral Reflux 8	22
185		CRR016	Cirrhosis, Familial	22
186		FML325	Familial Cervical Artery Dissection	21
187		ANG063	Angiolipomatosis, Familial	19
188	c	CNG619	Congenital Aplastic Anemia	19
189	c	FML284	Familial Vesicoureteral Reflux	19
190		FML369	Familial Apolipoprotein Gene Cluster Deletion Syndrome	17
191		VST008	Vestibulocochlear Dysfunction, Progressive	15
192	c	ERL059	Early-Onset Familial Hypoaldosteronism	14
193	c	LTN026	Late-Onset Familial Hypoaldosteronism	14
194	c	VSC043	Vesicoureteral Reflux 6	13
195	c	VSC042	Vesicoureteral Reflux 5	12
196		FML159	Familial Periodic Paralyses	12
197	c	VSC041	Vesicoureteral Reflux 7	11
198	c	VSC040	Vesicoureteral Reflux 4	11
199		FML329	Familial Caudal Dysgenesis	11
200	c	RRC002	Rare Acquired Aplastic Anemia	5
201	c	RRH005	Rare Hypoaldosteronism	4
202	c	MGR028	Migraine with or Without Aura 1	67
203	c	PSD122	Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	57
204	P	HYP040	Hypospadias	55
205	P	KRT005	Keratoacanthoma	52
206	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	50
207	P	ERY036	Erythema Nodosum	50
208	P	MGR001	Migraine Without Aura	48
209	P	PSD003	Pseudohypoaldosteronism	46
210		PRP007	Priapism	46
211		CYC008	Cyclic Vomiting Syndrome	42
212	P	PLM182	Pulmonary Hypoplasia, Primary	41
213	P	FML340	Familial Episodic Pain Syndrome	39
214		KLN009	Kleine-Levin Hibernation Syndrome	38
215	c	PSD080	Pseudohypoaldosteronism Type 1	36
216	c	ALZ057	Alzheimer Disease 10	35
217	c	ARR049	Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	34
218		CFL005	Cafe-Au-Lait Spots, Multiple	33
219	c	PSD090	Pseudohypoaldosteronism, Type Iia	32
220		ATY012	Atypical Mycobacteriosis, Familial	31
221	c	ALZ012	Alzheimer Disease 12	29
222	c	PSD068	Pseudohypoaldosteronism, Type Iic	27
223	c	FML272	Familial Sick Sinus Syndrome	27
224	c	PSD094	Pseudohypoaldosteronism, Type Iib	26
225	P	HYD015	Hydroa Vacciniforme	26
226	c	ALZ016	Alzheimer Disease 8	26
227		RHZ008	Rhizomelic Syndrome	24
228	c	FML223	Familial Keratoacanthoma	24
229		FML215	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	23
230		FML214	Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form	23
231	c	ALZ053	Alzheimer Disease 7	23
232	c	TRN053	Transient Pseudohypoaldosteronism	22
233		GNT044	Genetic Atypical Hemolytic-Uremic Syndrome	22
234	P	CMP101	Complex Hereditary Spastic Paraplegia	22
235	c	MGR036	Migraine with or Without Aura 2	21
236	c	ART068	Aortic Aneurysm, Familial Thoracic 2	21
237		FBR089	Fibrosclerosis, Multifocal	19
238	P	PRH002	Pure Hereditary Spastic Paraplegia	18
239		HRS037	Hirschsprung Disease with Type D Brachydactyly	18
240	c	MGR042	Migraine with or Without Aura 13	18
241	c	MGR023	Migraine Without Aura 4	18
242	c	MGR022	Migraine with or Without Aura 3	18
243	c	MGR024	Migraine with or Without Aura 5	17
244	c	AXN008	Axin2-Related Attenuated Familial Adenomatous Polyposis	17
245	c	CND027	Candidiasis, Familial, 3	16
246		FML079	Familial Nasal Acilia	16
247	c	MGR040	Migraine with or Without Aura 12	16
248	c	MGR038	Migraine with or Without Aura 10	15
249	c	MGR037	Migraine with or Without Aura 8	15
250	c	MGR039	Migraine with or Without Aura 11	15
251		HYP786	Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy	14
252		CMD004	Comedones, Familial Dyskeratotic	14
253	c	HYP545	Hypospadias 3, Autosomal	14
254		CMP022	Camptodactyly Taurinuria	14
255	c	ERY057	Erythema Nodosum, Familial	14
256	c	ATS470	Autosomal Dominant Pure Spastic Paraplegia	14
257	c	ATS154	Autosomal Recessive Complex Spastic Paraplegia	14
258	c	ART151	Aortic Aneurysm, Familial Abdominal, 2	13
259		EPL014	Epilepsy, Partial, Familial	13
260	c	PLM183	Pulmonary Hypoplasia, Familial Primary	13
261		HYP746	Hypersecretion of Adrenal Androgens, Familial	12
262	c	SZR025	Seizures, Benign Familial Neonatal, 3	12
263	c	PSD124	Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	12
264	c	HYD016	Hydroa Vacciniforme, Familial	12
265	c	PSD123	Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	11
266		NGY001	Nguyen Syndrome	10
267	P	PRR040	Pure or Complex Hereditary Spastic Paraplegia	10
268	c	PRR042	Pure or Complex Autosomal Recessive Spastic Paraplegia	9
269	c	ATS471	Autosomal Dominant Complex Spastic Paraplegia	8
270		UMB003	Umbilicus, Familial Flat	8
271	c	ATS153	Autosomal Recessive Pure Spastic Paraplegia	7
272		HYP694	Hyperreninemic Hypoaldosteronism, Familial, 2	7
273		LTR010	Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities	6
274	c	PRR041	Pure or Complex Autosomal Dominant Spastic Paraplegia	4
275		RGH002	Right Atrium Familial Dilatation	4
276		FML082	Familial Partial Paralysis	2
277	P	FML362	Familial Isolated Hypoparathyroidism	39
278		ANR043	Aniridia and Absent Patella	19
279		ULN021	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	18
280	P	THY023	Thymoma	65
281	P	SHR029	Short Syndrome	63
282	P	LNG028	Long Qt Syndrome	63
283	c	ESS001	Essential Tremor	55
284	c	CNT075	Central Precocious Puberty	52
285		CRY008	Cryopyrin-Associated Periodic Syndrome	48
286	P	ACQ022	Acquired Generalized Lipodystrophy	46
287	P	PRC019	Precocious Puberty	46
288	c	SHR030	Short Qt Syndrome	44
289		CNG064	Congenital Chloride Diarrhea	34
290	c	PRC046	Precocious Puberty, Central, 2	33
291		MYH016	Myh-Associated Polyposis	33
292		FML258	Familial Acute Necrotizing Encephalopathy	31
293	c	PRC047	Precocious Puberty, Central, 1	30
294	c	THY107	Thymoma, Familial	30
295	c	SHR032	Short Qt Syndrome 2	30
296	c	SHR033	Short Qt Syndrome 3	29
297	c	FML306	Familial or Sporadic Hemiplegic Migraine	29
298	c	INV003	Invasive Malignant Thymoma	29
299		FLR003	Florid Cemento-Osseous Dysplasia	28
300	c	SHR031	Short Qt Syndrome 1	27
301	c	TYP010	Type C Thymoma	23
302		GLC053	Glucocorticoid Deficiency 3	21
303		ANK015	Ankylosing Vertebral Hyperostosis with Tylosis	20
304		UPN001	Upington Disease	19
305		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	19
306	c	AKT001	Akt2-Related Familial Partial Lipodystrophy	16
307	c	HYP563	Hyperpigmentation, Familial Progressive, 1	16
308	c	FML275	Familial Hypoaldosteronism	15
309	c	TRC094	Trichoepithelioma, Multiple Familial, 2	15
310	c	HYP842	Hyperlipidemia, Familial Combined, 2	14
311	c	THY085	Thymoma Type a	14
312	P	LTN003	Late-Onset Familial Alzheimer Disease	14
313	c	THY087	Thymoma Type Ab	13
314	c	XNC002	X Inactivation, Familial Skewed, 2	11
315		FML202	Familial Alzheimer-Like Prion Disease	11
316	c	SCN039	Secondary Central Precocious Puberty	10
317		FML336	Familial Patent Arterial Duct	10
318	c	THY086	Thymoma Type B	9
319		BNG066	Benign Familial Mesial Temporal Lobe Epilepsy	8
320	c	RRP025	Rare Precocious Puberty	7
321		LSS032	Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome	7
322	c	MLG040	Malignant Type Ab Thymoma	6
323	c	MLG034	Malignant Type a Thymoma	6
324		FML194	Familial Clubfoot with or Without Associated Lower Limb Anomalies	6
325		FML216	Familial Isolated Clinodactyly of Fingers	4
326		FML200	Familial Omphalocele Syndrome with Facial Dysmorphism	4
327	P	RTN024	Retinoblastoma	75
328	c	WLM013	Wilms Tumor 1	68
329	c	WLM018	Wilms Tumor 5	66
330	P	TTH002	Tooth Agenesis	63
331	P	HYP069	Hyperparathyroidism	63
332	c	CHL140	Chilblain Lupus 1	56
333	P	LCH002	Lichen Planus	54
334	P	CHN059	Chondrocalcinosis	52
335		HMZ003	Homozygous Familial Hypercholesterolemia	52
336	P	OVR049	Ovarian Disease	52
337	c	FML008	Familial Retinoblastoma	50
338	c	SCN007	Secondary Hyperparathyroidism	50
339	P	OTS001	Otosclerosis	50
340	P	ACT008	Actinic Keratosis	49
341	c	FML191	Familial Long Qt Syndrome	48
342	c	HYP243	Hyperparathyroidism 1	46
343	P	RNL017	Renal Oncocytoma	45
344	P	OBS001	Obstructive Jaundice	43
345	P	HMF004	Hemifacial Spasm	42
346		DFF021	Diffuse Mesangial Sclerosis	41
347	c	FML294	Familial Short Qt Syndrome	40
348	P	CLS010	Cluster Headache	39
349	c	ALZ058	Alzheimer Disease 11	37
350		CNS013	Constricting Bands, Congenital	37
351		TRN030	Transient Erythroblastopenia of Childhood	35
352		NND010	Nondisjunction	33
353		CRT064	Corticosterone Methyloxidase Deficiency	31
354	c	FML355	Familial Intrahepatic Cholestasis	31
355	c	MNS014	Monosomy 22	30
356	P	GLM006	Glomangioma	30
357		MYL057	Myelopathy, Htlv-1-Associated	29
358	P	HRD009	Hereditary Wilms' Tumor	29
359	c	SPS091	Spastic Paraplegia 4	29
360		LPM007	Lipomyelomeningocele	27
361	c	WLM011	Wilms Tumor 6	27
362	c	HYP720	Hyperparathyroidism 4	27
363		PRF005	Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	26
364	P	FML337	Familial Chilblain Lupus	26
365		GNS004	Geniospasm 1	26
366	c	OTS005	Otosclerosis 1	26
367	c	WLM005	Wilms Tumor 2	26
368		SPN354	Spinal Arachnoiditis	25
369		BRR012	Berardinelli-Seip Congenital Lipodystrophy	25
370		LRY046	Laryngeal Web, Familial	25
371	c	INH032	Inherited Human Prion Disease	25
372		DRM041	Dermoid Cysts, Familial Frontonasal	25
373	c	FML025	Familial Glomangioma	25
374	c	MNS008	Monosomy 21	24
375		ZNC006	Zinc, Elevated Plasma	24
376	c	CHL114	Chilblain Lupus 2	23
377		PLY135	Polydactyly, Postaxial, with Progressive Myopia	23
378	c	SPR070	Sporadic Infantile Bilateral Striatal Necrosis	22
379		ACH015	Achalasia, Familial Esophageal	22
380	c	MNS011	Monosomy 9q22.3	22
381	c	SCN048	Secondary Syringomyelia	22
382	c	ATR026	Atrial Fibrillation, Familial, 1	22
383	P	CNG070	Congenital Dislocation of the Patella	21
384	c	HRD198	Hereditary Dystonia	21
385	c	WLM017	Wilms Tumor 4	21
386	c	GLM014	Glomerulopathy with Fibronectin Deposits 1	20
387		RTN078	Retinoschisis of Fovea	19
388	c	WLM015	Wilms Tumor 3	19
389	c	MGR033	Migraine with or Without Aura 6	19
390	P	ATS469	Autosomal Monosomy	19
391	c	FML028	Familial Renal Oncocytoma	19
392		HND005	Hand and Foot Deformity with Flat Facies	18
393	c	HYP311	Hyperparathyroidism 3	18
394		FLT007	Flotch Syndrome	18
395	c	OTS007	Otosclerosis 3	17
396	P	CRY006	Cryofibrinogenemia	17
397		PLM045	Palmer Pagon Syndrome	17
398	P	ALK019	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1	17
399		WHT022	White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrom	17
400		CRN258	Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	17
401	c	PRM355	Primary Ovarian Insufficiency 6	16
402		MND005	Mondini Dysplasia	16
403	c	OTS009	Otosclerosis 5	16
404	c	OTS010	Otosclerosis 7	16
405	c	OTS012	Otosclerosis 10	16
406	c	OTS011	Otosclerosis 8	16
407	c	CHN023	Chondrocalcinosis Due to Apatite Crystal Deposition	15
408	c	FML094	Familial Wilms Tumor 2	15
409	c	OTS006	Otosclerosis 2	15
410		SPS047	Spastic Paraplegia with Precocious Puberty	15
411		FML224	Familial Idiopathic Dilatation of the Right Atrium	15
412	c	CLS053	Cluster Headache, Familial	15
413	c	OTS008	Otosclerosis 4	14
414	c	ATR027	Atrial Fibrillation, Familial, 5	14
415	c	FML255	Familial Syringomyelia	13
416	c	ATR025	Atrial Fibrillation, Familial, 2	13
417	c	ART108	Aortic Aneurysm, Familial Abdominal, 4	13
418		IDP082	Idiopathic Ventricular Fibrillation, Non Brugada Type	13
419		CHR648	Chorea, Remitting, with Nystagmus and Cataract	13
420	c	RRL001	Rare Lichen Planus	12
421		FCT027	Factors Viii, Ix and Xi, Combined Deficiency of	12
422	P	CHR636	Chorea, Benign Familial	12
423	c	LCH017	Lichen Planus, Familial	12
424		ART142	Arteritis, Familial Granulomatous, with Juvenile Polyarthritis	12
425	P	FML305	Familial Abdominal Aortic Aneurysm	12
426	c	PRM168	Primary Syringomyelia	12
427	c	HMF011	Hemifacial Spasm, Familial	12
428	c	ATR028	Atrial Fibrillation, Familial, 8	11
429		ENT017	Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency	11
430		FCT025	Factor Vii and Factor Viii, Combined Deficiency of	11
431		MNG008	Monogenic Disease with Epilepsy	11
432		OPH016	Ophthalmoplegia, Familial Static	11
433		TTR009	Tetralogy of Fallot and Glaucoma	11
434	P	CHY007	Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase	11
435	P	FML050	Familial Bilateral Striatal Necrosis	11
436		LMB070	Lumbar Stenosis, Familial	11
437	c	APB002	Apob-Related Familial Hypobetalipoproteinemia	11
438	c	HYP799	Hypouricemia, Familial Renal, Due to Tubular Hypersecretion	10
439	c	MY5001	Myo5b-Related Progressive Familial Intrahepatic Cholestasis	10
440		FCT026	Factor Viii and Factor Ix, Combined Deficiency of	10
441	c	PTL011	Patella, Familial Recurrent Dislocation of	10
442		CNV019	Convulsive Disorder, Familial, with Prenatal or Early Onset	10
443	c	CRY033	Cryofibrinogenemia, Familial Primary	10
444	c	ACQ069	Acquired Human Prion Disease	10
445		CRD227	Cardiac Lipidosis, Familial	10
446		CHR631	Choreoathetosis, Familial Inverted	10
447		ALZ052	Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology	10
448		CNC019	Cancer, Familial, with in Vitro Radioresistance	10
449	c	SPR154	Sporadic Human Prion Disease	10
450		EDM003	Edema, Familial Idiopathic, Prepubertal	10
451	c	NNS127	Nonsyndromic Tooth Agenesis	9
452		FCT028	Factor Ix and Factor Xi, Combined Deficiency of	9
453		MLN068	Melanoma, Malignant Familial Intraocular	9
454	c	FML317	Familial Monosomy 7 Syndrome	9
455	P	STT039	Stuttering, Familial Persistent, 4	9
456		HST021	Histiocytosis, Familial Lipochrome	9
457		OPH017	Ophthalmoplegia, Familial Total, with Iris Transillumination	9
458		APF001	Aip Familial Isolated Pituitary Adenomas	9
459		ALP096	Alopecia, Familial Focal	9
460		MSC143	Muscle Cramps, Familial	9
461		STT047	Setting-Sun Phenomenon, Familial Benign	9
462	c	KRT070	Keratosis, Familial Actinic	8
463	c	STT036	Stuttering, Familial Persistent, 3	8
464		MCR339	Macrocytosis, Familial	8
465		ANT082	Antithrombin, Familial Hemorrhagic Diathesis Due to	8
466		PCH021	Pachydermodactyly, Familial	8
467		AZT005	Azotemia, Familial	8
468		FML352	Familial Scaphocephaly Syndrome	7
469	c	ALK020	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2	7
470		NSL026	Nasal Hyperpigmentation, Familial Transverse	7
471		STR098	Striae Distensae, Familial	7
472	c	JND003	Jaundice, Familial Obstructive, of Infancy	7
473		PRP095	Priapism, Familial Idiopathic	7
474		NSL025	Nasal Groove, Familial Transverse	7
475		BND019	Bundle Branch Block, Familial Isolated Complete Right	7
476		BLN022	Blue Nevi, Familial Multiple	7
477		URT053	Urticaria, Familial Localized Heat	7
478		FVR001	Fever, Familial Lifelong Persistent	7
479		BNG060	Benign Non-Familial Infantile Seizures	7
480		CRM011	Cramps, Familial Adolescent	7
481		BRD052	Broad Terminal Phalanges, Familial	7
482		LGL002	Leg Ulcers, Familial, of Juvenile Onset	7
483		CRY034	Cryptotia, Familial	6
484		INS028	Insulin Receptors, Familial Increase in	6
485	c	TTL014	Total Autosomal Monosomy	6
486	c	ALK022	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4	6
487	c	ALK021	Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3	6
488	c	RRH011	Rare Hyperparathyroidism	5
489		BRC118	Brachial Palsy, Familial Congenital	5
490		FML051	Familial Capillaro-Venous Leptomeningeal Angiomatosis	5
491	c	PRM366	Primary Ovarian Insufficiency 17	5
492	c	PRM362	Primary Ovarian Insufficiency 13	5
493	c	PRM358	Primary Ovarian Insufficiency 9	5
494		FRC004	Fara Chlupackova Syndrome	5
495	c	OTS004	Otosclerosis, Familial	5
496	c	PRM351	Primary Ovarian Insufficiency 2b	4
497	c	PRM354	Primary Ovarian Insufficiency 5	4
498	c	PRM352	Primary Ovarian Insufficiency 3	4
499	c	PRM356	Primary Ovarian Insufficiency 7	4
500	c	PRM361	Primary Ovarian Insufficiency 12	4
501		LSS038	Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia	4
502	c	PRM357	Primary Ovarian Insufficiency 8	4
503	c	PRM353	Primary Ovarian Insufficiency 4	4
504	c	PRM359	Primary Ovarian Insufficiency 10	4
505	c	PRM363	Primary Ovarian Insufficiency 14	4
506	c	PRM364	Primary Ovarian Insufficiency 15	4
507	c	PRM350	Primary Ovarian Insufficiency 2a	4
508	c	PRM365	Primary Ovarian Insufficiency 16	4
509	c	OVR071	Ovarian Insufficiency, Familial	4
510	c	PRM360	Primary Ovarian Insufficiency 11	4
511	c	FML049	Familial Band Heterotopia	4
512		FML349	Familial Creutzfeld-Jakob Disease	4
513		RRG028	Rare Genetic Disease with Myoclonus As a Major Feature	3
514		IDP089	Idiopathic or Cryptogenic Familial Epilepsy Syndrome with Identified Loci/genes	3
515		NNF004	Non-Familial Hypertrophic Cardiomyopathy	3
516		PLM055	Pulmonary Artery Familial Dilatation	2
517	c	FML226	Familial Dupuytren Contracture	2
518		HYP153	Hypergonadotropic Ovarian Failure, Familial or Sporadic	1
519		DST014	Distal Primary Acidosis, Familial	1
520	P	BRS047	Breast Cancer	97
521	c	AMY091	Amyotrophic Lateral Sclerosis 1	87
522	c	ALZ065	Alzheimer Disease, Familial, 1	87
523	c	HYP595	Hypertension, Essential	86
524		ESP021	Esophageal Cancer	83
525	P	PRK057	Parkinson Disease, Late-Onset	81
526	c	FNC027	Fanconi Anemia, Complementation Group a	80
527	P	HRT032	Heart Disease	80
528	P	RHM011	Rheumatoid Arthritis	80
529	c	TYP008	Type 1 Diabetes Mellitus	79
530	P	RTT002	Rett Syndrome	78
531		GST019	Gastrointestinal Stromal Tumor	78
532		CYS001	Cystic Fibrosis	78
533		NRL016	Neural Tube Defects	77
534	c	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	77
535	P	AST005	Asthma	76
536	P	ATS364	Autism	74
537	P	DMN001	Diamond-Blackfan Anemia	74
538	c	LKM063	Leukemia, Chronic Myeloid	73
539	c	ATM006	Autoimmune Lymphoproliferative Syndrome	72
540	P	CRN300	Coronary Heart Disease 1	72
541	P	SRC025	Sarcoidosis 1	71
542		EWN003	Ewing Sarcoma	71
543	c	ATS007	Autism Spectrum Disorder	70
544		SVR097	Severe Cutaneous Adverse Reaction	70
545	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	69
546		SMT004	Smith-Lemli-Opitz Syndrome	69
547	P	BRG001	Brugada Syndrome	69
548		CHD001	Chediak-Higashi Syndrome	69
549	c	FNC043	Fanconi Anemia, Complementation Group E	68
550	P	INF038	Influenza	68
551	P	TBR001	Tuberous Sclerosis	68
552		CRT072	Creutzfeldt-Jakob Disease	68
553	P	MYC007	Myocardial Infarction	68
554		LPP008	Lipoprotein Quantitative Trait Locus	67
555	P	BRD002	Bardet-Biedl Syndrome	67
556	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
557	c	MCP001	Mucopolysaccharidosis Iii	67
558	P	CHR012	Chronic Granulomatous Disease	67
559	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	66
560		ALL003	Allergic Rhinitis	66
561	c	HRD002	Hereditary Angioedema	66
562	P	HLP001	Holoprosencephaly	66
563		FCT007	Factor Vii Deficiency	66
564	c	DPH024	Diaphragmatic Hernia, Congenital	66
565	P	CRN037	Craniosynostosis	66
566	P	DYS154	Dystonia	66
567		ACH004	Achondroplasia	66
568	c	JVN010	Juvenile Rheumatoid Arthritis	66
569	P	CRN015	Cornelia De Lange Syndrome	66
570	P	PLZ001	Pelizaeus-Merzbacher Disease	65
571		CRZ001	Crouzon Syndrome	65
572	P	AGM001	Agammaglobulinemia	65
573	P	LYS001	Loeys-Dietz Syndrome	65
574		MTC027	Mitochondrial Trifunctional Protein Deficiency	65
575		RFS006	Refsum Disease, Classic	64
576	c	GLY007	Glycogen Storage Disease Iv	64
577	P	ZLL001	Zellweger Syndrome	64
578	P	EHL001	Ehlers-Danlos Syndrome	64
579	P	HRD008	Hereditary Hemorrhagic Telangiectasia	64
580		MYC079	Myoclonic Epilepsy of Lafora	64
581	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	64
582	c	TBR026	Tuberous Sclerosis 2	63
583	P	NRF002	Neurofibromatosis	63
584	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	63
585		ART001	Arterial Tortuosity Syndrome	63
586	P	HYD006	Hydrocephalus	63
587	P	ACR001	Aicardi-Goutieres Syndrome	63
588		PHL006	Phelan-Mcdermid Syndrome	63
589		LKN001	Leukoencephalopathy with Vanishing White Matter	62
590		NRR002	Norrie Disease	62
591		CHY002	Chylomicron Retention Disease	62
592		SPN404	Spinal and Bulbar Muscular Atrophy, X-Linked 1	61
593	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	61
594	P	EPL140	Epilepsy, Idiopathic Generalized	61
595	c	DVL030	Developmental and Epileptic Encephalopathy 36	61
596	c	FRS014	Fraser Syndrome 1	61
597	P	NRN021	Neuronal Ceroid Lipofuscinosis	61
598		SCR020	Sacral Defect with Anterior Meningocele	61
599		ALP097	Alopecia Universalis Congenita	60
600	P	EXD001	Exudative Vitreoretinopathy	60
601		DBF001	D-Bifunctional Protein Deficiency	60
602	P	CHL002	Childhood Absence Epilepsy	60
603		CMP012	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	60
604	c	ACT075	Acute Myocardial Infarction	59
605		ARG007	Argininemia	59
606		CFF002	Coffin-Lowry Syndrome	59
607	P	MCR010	Microcephaly	59
608	P	BRN022	Bronchiectasis	59
609	c	WLF013	Wolfram Syndrome 1	59
610	P	MYM013	Moyamoya Disease 1	59
611	P	PRG013	Paraganglioma	59
612	c	PRM196	Premature Ovarian Failure 1	59
613	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	59
614	c	ANG070	Angioedema, Hereditary, 1	59
615	P	LYM033	Lymphoproliferative Syndrome	58
616	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	58
617	c	FNC042	Fanconi Anemia, Complementation Group D2	58
618		CPR004	Coproporphyria, Hereditary	58
619	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	57
620		LYS003	Lysinuric Protein Intolerance	57
621	P	WLF004	Wolfram Syndrome	57
622		VRG001	Variegate Porphyria	57
623	P	GNT049	Giant Axonal Neuropathy 1, Autosomal Recessive	57
624	c	MCL046	Mucolipidosis Iii Alpha/beta	57
625		CRN295	Carnitine Palmitoyltransferase I Deficiency	56
626	P	ATR001	Atrioventricular Septal Defect	56
627	P	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	56
628	P	VNB005	Van Buchem Disease	56
629		ARS001	Aarskog-Scott Syndrome	56
630	P	VSC013	Visceral Heterotaxy	56
631		PRT082	Preterm Premature Rupture of the Membranes	56
632	P	HRD011	Hereditary Spherocytosis	56
633	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	56
634	c	HLP023	Holoprosencephaly 1	56
635	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	56
636	P	STS003	Sitosterolemia	56
637	P	ATS011	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	56
638	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	56
639	c	ART120	Arthrogryposis, Distal, Type 3	55
640		TCK001	Tick-Borne Encephalitis	55
641	P	LFT003	Left Ventricular Noncompaction	55
642	P	AML002	Amelogenesis Imperfecta	55
643		OPT054	Opitz-Kaveggia Syndrome	55
644	P	PRK001	Porokeratosis	55
645	P	DRR001	Diarrhea	55
646	P	SCK002	Sick Sinus Syndrome	55
647	P	ANG015	Angioedema	55
648	P	SCK004	Seckel Syndrome	55
649	P	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	54
650	c	INF037	Inflammatory Bowel Disease	54
651		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	54
652	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	54
653	c	HYD064	Hydrocephalus, Congenital, 1	54
654	c	OPT053	Optic Atrophy 1	54
655		GLC009	Glucosephosphate Dehydrogenase Deficiency	54
656	P	CNG010	Congenital Stationary Night Blindness	54
657	P	NNT058	Neonatal Diabetes	53
658	c	LTH007	Lethal Congenital Contracture Syndrome 1	53
659	c	FNC045	Fanconi Anemia, Complementation Group F	53
660	c	CRN278	Craniosynostosis 1	53
661		GLC003	Glucose Intolerance	53
662	c	HYP828	Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	53
663	P	NLD001	Nail Disease	53
664	c	ATS069	Autosomal Dominant Optic Atrophy Plus Syndrome	53
665	c	HYP795	Hypothyroidism, Congenital, Nongoitrous, 4	53
666	c	FNC025	Fanconi Anemia, Complementation Group J	53
667	c	MLT086	Multiple Endocrine Neoplasia, Type Iv	53
668	c	CNG216	Congenital Hydrocephalus	53
669	P	NRD007	Neurodegeneration with Brain Iron Accumulation	52
670	c	PNT057	Pontocerebellar Hypoplasia, Type 1e	52
671	c	STN011	Sting-Associated Vasculopathy with Onset in Infancy	52
672	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	52
673		SCH071	Schaaf-Yang Syndrome	52
674	P	TRC102	Trichothiodystrophy 1, Photosensitive	52
675	P	VND002	Van Der Woude Syndrome	52
676	c	HRD117	Hereditary Breast Cancer	52
677	c	GLL038	Galloway-Mowat Syndrome 1	52
678	c	HLP026	Holoprosencephaly 3	52
679	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	52
680		ABL002	Ablepharon-Macrostomia Syndrome	52
681	P	DVL113	Developmental and Epileptic Encephalopathy	51
682		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	51
683	c	PRM031	Primary Autosomal Recessive Microcephaly	51
684	P	NLX004	Neu-Laxova Syndrome 1	51
685	P	BRT050	Bartter Syndrome, Type 2, Antenatal	51
686		NNL006	Non-Alcoholic Steatohepatitis	51
687		AGN012	Agnathia-Otocephaly Complex	51
688		NRL018	Neural Tube Defects, Folate-Sensitive	51
689	c	HRD173	Hereditary Late-Onset Parkinson Disease	51
690	c	DWL002	Dowling-Degos Disease 1	51
691	c	INF023	Inflammatory Breast Carcinoma	51
692	c	DBT104	Diabetes Mellitus, Permanent Neonatal, 1	51
693		HYP801	Hyperferritinemia with or Without Cataract	51
694	P	PRM030	Permanent Neonatal Diabetes Mellitus	51
695		JVN012	Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome	50
696	c	HLP025	Holoprosencephaly 9	50
697		CNT056	Cantu Syndrome	50
698	c	FNC032	Fanconi Anemia, Complementation Group B	50
699	c	HYP548	Hypogonadotropic Hypogonadism 2 with or Without Anosmia	50
700		MLB001	Mulibrey Nanism	50
701	c	ART155	Arthrogryposis, Distal, Type 2b1	50
702		PTC002	Potocki-Lupski Syndrome	50
703	c	TRN032	Transient Neonatal Diabetes Mellitus	50
704	c	OPT068	Optic Atrophy 3, Autosomal Dominant	50
705	c	FNC028	Fanconi Anemia, Complementation Group L	50
706	P	ANX007	Anauxetic Dysplasia 1	50
707		SLR001	Sialuria	50
708	P	KRT007	Keratoconus	50
709	P	MCL001	Mucolipidosis	50
710	P	PRT042	Parietal Foramina	50
711	c	JBR004	Joubert Syndrome 2	50
712	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	49
713	P	HRD012	Hereditary Elliptocytosis	49
714	c	HYP575	Hypotrichosis 7	49
715	c	BRD015	Bardet-Biedl Syndrome 3	49
716		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	49
717	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	49
718	c	JBR012	Joubert Syndrome 5	48
719	c	ALZ049	Alzheimer Disease 2	48
720		GLY014	Glycerol Kinase Deficiency	48
721	P	BRT028	Brittle Cornea Syndrome 1	48
722	c	HYP597	Hyperprolinemia, Type Ii	48
723	c	STS010	Sitosterolemia 1	48
724		RNS001	Raine Syndrome	48
725		VTM002	Vitamin B12 Deficiency	48
726	P	BCT020	Bacteremia 2	48
727	P	BRS053	Breast Fibroadenoma	48
728	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	48
729	c	ALZ045	Alzheimer Disease 9	48
730		SNG007	Sengers Syndrome	48
731	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	48
732	c	RTS003	Ritscher-Schinzel Syndrome 1	48
733	P	BWL003	Bowel Dysfunction	48
734		KRT010	Kartagener Syndrome	48
735		MCR096	Macrocephaly/autism Syndrome	48
736	c	MCK032	Meckel Syndrome, Type 3	47
737	P	KLP003	Klippel-Feil Syndrome	47
738	c	MCK033	Meckel Syndrome, Type 4	47
739	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	47
740		AST052	Asthma, Nasal Polyps, and Aspirin Intolerance	47
741	c	BRS049	Breast Carcinoma in Situ	47
742	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	47
743	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	47
744		BRL010	Buruli Ulcer	47
745		MNC019	Monocarboxylate Transporter 1 Deficiency	47
746	c	ZLL011	Zellweger Spectrum Disorder	47
747		MLL011	Mullerian Aplasia and Hyperandrogenism	47
748	c	ACR116	Aicardi-Goutieres Syndrome 1	47
749	c	FNC023	Fanconi Anemia, Complementation Group N	47
750	c	CRD166	Ceroid Lipofuscinosis, Neuronal, 11	47
751	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	47
752		CRB147	Cerebellofaciodental Syndrome	47
753		SHR059	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	47
754	c	MCK030	Meckel Syndrome, Type 7	46
755	P	DWL001	Dowling-Degos Disease	46
756		AYM001	Ayme-Gripp Syndrome	46
757	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	46
758		PRX001	Peroxisomal Disease	46
759	P	MTH007	Methemoglobinemia	46
760	P	HYP776	Hyperparathyroidism, Neonatal Severe	46
761	c	MCR124	Microphthalmia, Isolated 1	46
762	c	GRN061	Granulomatous Disease, Chronic, Autosomal Recessive, 4	46
763	P	PRX021	Proximal Symphalangism	46
764	P	GLL032	Galloway-Mowat Syndrome	46
765	c	MCK014	Meckel Syndrome, Type 5	46
766	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	46
767	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	46
768	c	DVL118	Developmental and Epileptic Encephalopathy 94	46
769	c	CHR711	Chronic Asthma	46
770	P	SPS008	Spastic Ataxia	45
771	c	HLP016	Holoprosencephaly 11	45
772	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	45
773	c	HYP829	Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	45
774	c	MCK012	Meckel Syndrome, Type 6	45
775	c	JBR022	Joubert Syndrome 20	45
776	c	TRC100	Trichothiodystrophy 3, Photosensitive	45
777	c	MRG010	Meier-Gorlin Syndrome 3	45
778	c	DMN021	Diamond-Blackfan Anemia 6	45
779	c	AGM023	Agammaglobulinemia 4, Autosomal Recessive	45
780	c	PTT030	Pitt-Hopkins-Like Syndrome 2	45
781	c	CRN111	Cranioectodermal Dysplasia 4	45
782		CRB148	Cerebral Creatine Deficiency Syndrome 3	45
783	c	DMN029	Diamond-Blackfan Anemia 11	45
784	c	ALZ062	Alzheimer Disease 19	45
785	c	BRD032	Bardet-Biedl Syndrome 14	45
786	c	LNG053	Long Qt Syndrome 9	44
787	c	PRK093	Parkinson Disease 8, Autosomal Dominant	44
788	P	SYN060	Syndactyly, Type Iii	44
789	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	44
790	c	ACT249	Acute Asthma	44
791	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	44
792	c	HLP029	Holoprosencephaly 4	44
793		DRR008	Diarrhea 1, Secretory Chloride, Congenital	44
794	P	MCR384	Microcephaly, Epilepsy, and Diabetes Syndrome 1	44
795		PLY062	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy	44
796	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	44
797	c	SCK009	Seckel Syndrome 1	44
798	c	2HY001	2-Hydroxyglutaric Aciduria	44
799	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	44
800	P	PST059	Pustular Psoriasis	44
801	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	44
802		CHR594	Chromosome 3q29 Deletion Syndrome	44
803	c	SYN061	Syndactyly, Type Iv	44
804	c	NNN009	Noonan Syndrome 2	44
805	P	MLG069	Malignant Hypertension	44
806	P	NNN037	Noonan Syndrome-Like Disorder with Loose Anagen Hair	44
807	c	SYS043	Systemic Lupus Erythematosus 1	44
808		PHS023	Phosphoserine Aminotransferase Deficiency	43
809	P	CMM008	Communicating Hydrocephalus	43
810	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	43
811	c	ORF027	Orofacial Cleft 11	43
812	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	43
813	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	43
814	c	JBR016	Joubert Syndrome 10	43
815	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	43
816		PLY068	Polysubstance Abuse	43
817	c	WRB003	Warburg Micro Syndrome 2	43
818	c	PRK052	Parkinson Disease 17	43
819	c	DYS119	Dystonia 9	43
820	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	43
821		CMP007	Complement Component 5 Deficiency	43
822	c	VTL009	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	43
823		FZL002	Fazio-Londe Disease	43
824		MNC011	Minicore Myopathy with External Ophthalmoplegia	42
825	c	PRM038	Primary Agammaglobulinemia	42
826		DFN270	Deafness, Dystonia, and Cerebral Hypomyelination	42
827	c	CRD257	Ceroid Lipofuscinosis, Neuronal, 4	42
828	c	LBR011	Leber Congenital Amaurosis 16	42
829	c	DMN006	Diamond-Blackfan Anemia 3	42
830		IVC001	Ivic Syndrome	42
831	P	CRN327	Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1	42
832	c	NNN012	Noonan Syndrome 5	42
833	c	TRC078	Trichohepatoenteric Syndrome 2	42
834	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	42
835	c	FRS016	Fraser Syndrome 2	42
836		DPH019	Diaphanospondylodysostosis	42
837	c	BRD048	Bardet-Biedl Syndrome 18	42
838	P	ORF002	Orofacial Cleft	42
839	c	SPR009	Sporadic Breast Cancer	42
840		INT504	Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	41
841		CRN325	Craniotubular Dysplasia, Ikegawa Type	41
842	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	41
843	c	CRS017	Crisponi/cold-Induced Sweating Syndrome 2	41
844	c	CNG404	Congenital Heart Defects, Multiple Types, 4	41
845		PLY158	Polyglucosan Body Neuropathy, Adult Form	41
846	P	PRC031	Preeclampsia/eclampsia 1	41
847	c	SCK010	Seckel Syndrome 4	41
848		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	41
849	c	MCR122	Microphthalmia, Isolated 5	41
850	c	PRK091	Parkinson Disease 4, Autosomal Dominant	41
851	c	GLP004	Geleophysic Dysplasia 2	41
852	P	RDL002	Radioulnar Synostosis	41
853	P	MLT072	Multiple Synostoses Syndrome	41
854		MTC029	Mitochondrial Complex V Deficiency, Nuclear Type 1	41
855	c	ART157	Arthrogryposis, Distal, Type 2b3	41
856	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	41
857	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	41
858	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	41
859	c	FNC058	Fanconi Anemia, Complementation Group R	41
860	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	41
861	c	WLF009	Wolfram Syndrome 2	41
862	P	CRB050	Cerebrooculofacioskeletal Syndrome	41
863	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	41
864	c	SPH013	Spherocytosis, Type 1	41
865	c	MRG015	Meier-Gorlin Syndrome 7	41
866	P	HYP087	Hypotrichosis	40
867	P	INC029	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1	40
868	c	BRG003	Brugada Syndrome 3	40
869		DSR012	Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency	40
870	c	CLR114	Ciliary Dyskinesia, Primary, 30	40
871	c	NNN021	Noonan Syndrome 8	40
872	c	MRG012	Meier-Gorlin Syndrome 5	40
873	c	OST110	Osteogenesis Imperfecta, Type Xv	40
874	P	DYS005	Dyslexia	40
875	c	CRN209	Cornelia De Lange Syndrome 5	40
876	P	HYP111	Hyperprolinemia	40
877	c	HLP028	Holoprosencephaly 5	40
878	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	40
879	c	FRN043	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3	40
880		CRT045	Creatine Phosphokinase, Elevated Serum	40
881	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	40
882	c	JBR015	Joubert Syndrome 6	40
883	c	HYP525	Hypotrichosis 2	40
884	c	BRD020	Bardet-Biedl Syndrome 8	40
885	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	40
886	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	40
887	c	ACQ012	Acquired Angioedema	40
888	c	FNC057	Fanconi Anemia, Complementation Group U	40
889	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	40
890		CRT046	Corticosteroid-Binding Globulin Deficiency	40
891	P	CNG024	Congenital Nystagmus	40
892	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	40
893		RTN193	Retinitis Pigmentosa and Erythrocytic Microcytosis	40
894		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	40
895	c	PRG020	Paragangliomas 3	39
896		WCK001	Wieacker-Wolff Syndrome	39
897	c	PRM212	Primary Microcephaly	39
898	c	BRT029	Brittle Cornea Syndrome 2	39
899		CMP089	Complement Component 6 Deficiency	39
900	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	39
901	P	LTH003	Lethal Congenital Contracture Syndrome	39
902	c	BRD047	Bardet-Biedl Syndrome 16	39
903	c	AML020	Amelogenesis Imperfecta, Type Iv	39
904	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	39
905	c	PRK090	Parkinson Disease 3, Autosomal Dominant	39
906		RPP001	Rapp-Hodgkin Syndrome	39
907		ISL151	Isolated Elevated Serum Creatine Phosphokinase Levels	39
908	c	PRX054	Peroxisome Biogenesis Disorder 12a	39
909	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	39
910	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	39
911	c	JBR037	Joubert Syndrome 26	39
912	c	LKD008	Leukodystrophy, Hypomyelinating, 4	39
913	c	PLY149	Polydactyly, Preaxial Iv	39
914	c	CNG223	Congenital Methemoglobinemia	39
915	c	HYP559	Hypotrichosis 8	39
916	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	39
917	c	VND007	Van Der Woude Syndrome 1	39
918	c	KNN009	Kenny-Caffey Syndrome, Type 1	39
919		FRG010	Fragile X Tremor/ataxia Syndrome	39
920		SNL007	Senile Cataract	39
921	P	SYN012	Synpolydactyly	38
922	c	CLR066	Ciliary Dyskinesia, Primary, 2	38
923	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	38
924	c	AMY088	Amyotrophic Lateral Sclerosis 3	38
925	P	DYS215	Dyskinesia with Orofacial Involvement, Autosomal Dominant	38
926	c	46X017	46,xy Sex Reversal 6	38
927		HYP540	Hypertension, Diastolic	38
928	P	MYP105	Myopathy, Myosin Storage, Autosomal Dominant	38
929		INT270	Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	38
930	c	NNN020	Noonan Syndrome 7	38
931		TRN012	Transient Global Amnesia	38
932	P	SHR085	Short-Rib Thoracic Dysplasia 14 with Polydactyly	38
933	c	LTH008	Lethal Congenital Contracture Syndrome 2	38
934	P	UVS001	Uv-Sensitive Syndrome	38
935		RST023	Resting Heart Rate, Variation in	38
936	c	BRT038	Baraitser-Winter Syndrome 1	38
937	c	DMN020	Diamond-Blackfan Anemia 8	38
938	c	ACR091	Aicardi-Goutieres Syndrome 4	38
939	P	SCH077	Schwannomatosis 1	38
940	P	NNP021	Nanophthalmos	38
941	P	BRT040	Baraitser-Winter Syndrome	38
942		MLC004	Mulchandani-Bhoj-Conlin Syndrome	38
943	c	ERL056	Early-Onset Parkinson's Disease	38
944	c	CWD004	Cowden Syndrome 5	38
945	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	38
946	c	LPR011	Leopard Syndrome 2	38
947	c	FNC046	Fanconi Anemia, Complementation Group P	38
948	c	DMN024	Diamond-Blackfan Anemia 7	38
949		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	37
950	c	CTR145	Cataract 44	37
951		CHR225	Chromosome 1q21.1 Duplication Syndrome	37
952		CRN274	Corneal Dystrophy, Posterior Amorphous	37
953	c	HLP024	Holoprosencephaly 2	37
954		CMP087	Complement Component 7 Deficiency	37
955	c	AMY023	Amyotrophic Lateral Sclerosis Type 6	37
956		HYD030	Hydroxykynureninuria	37
957		HTR014	Heterotaxy, Visceral, 1, X-Linked	37
958	c	VNM002	Van Maldergem Syndrome 2	37
959	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	37
960	c	ART156	Arthrogryposis, Distal, Type 2b2	37
961	c	SPN102	Spinocerebellar Ataxia 30	37
962	c	EPL236	Epilepsy, Idiopathic Generalized 15	37
963		SYN089	Syndromic X-Linked Intellectual Disability Snyder Type	37
964	c	PRX063	Peroxisome Biogenesis Disorder 2a	37
965	P	THY054	Thyrotoxic Periodic Paralysis	37
966		CMB019	Combined Oxidative Phosphorylation Deficiency 8	37
967	c	ACR092	Aicardi-Goutieres Syndrome 5	37
968	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	37
969	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	37
970	c	MCR329	Microcephaly, Autosomal Dominant	37
971	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	37
972	c	SCK011	Seckel Syndrome 5	37
973	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	37
974	c	PRT059	Parietal Foramina 1	36
975	c	ACT004	Acute Diarrhea	36
976	c	LTH026	Lethal Congenital Contracture Syndrome 4	36
977		HMM004	Hamamy Syndrome	36
978	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	36
979	c	JBR040	Joubert Syndrome 30	36
980	c	TRC125	Trichothiodystrophy 7, Nonphotosensitive	36
981	c	ELL005	Elliptocytosis 2	36
982		MST021	Meester-Loeys Syndrome	36
983	P	LSS030	Lissencephaly 7 with Cerebellar Hypoplasia	36
984	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	36
985		LSN002	Loose Anagen Hair Syndrome	36
986	P	ENC056	Encephalopathy, Acute, Infection-Induced 4	36
987		RHM034	Rahman Syndrome	36
988	c	EXD012	Exudative Vitreoretinopathy 7	36
989	c	BRD053	Bardet-Biedl Syndrome 22	36
990	c	HYP355	Hypothyroidism, Congenital, Nongoitrous, 3	36
991	c	LBR029	Leber Congenital Amaurosis 17	36
992	c	MCR248	Microcephaly 3, Primary, Autosomal Recessive	36
993	c	ELL010	Elliptocytosis 1	36
994		VRT016	Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction	36
995	c	AML047	Amelogenesis Imperfecta, Type Ia	36
996	c	PRX060	Peroxisome Biogenesis Disorder 5a	36
997	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	36
998	c	ADL066	Adult Neuronal Ceroid Lipofuscinosis	36
999	c	PRK070	Parkinson Disease 21	35
1000		ATX039	Ataxia-Pancytopenia Syndrome	35
1001	c	NGH027	Night Blindness, Congenital Stationary, Type 1c	35
1002		HYP846	Hypopigmentation, Organomegaly, and Delayed Myelination and Development	35
1003	c	FNC034	Fanconi Renotubular Syndrome 2	35
1004		NRD058	Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures	35
1005	c	LFR009	Li-Fraumeni Syndrome 1	35
1006		EPL166	Epilepsy, Early-Onset, Vitamin B6-Dependent	35
1007	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	35
1008	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	35
1009	P	TRG016	Trigonocephaly 1	35
1010	c	KBK003	Kabuki Syndrome 2	35
1011	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	35
1012	c	DYS162	Dystonia, Juvenile-Onset	35
1013	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	35
1014	c	CLR042	Ciliary Dyskinesia, Primary, 6	35
1015	c	RTS002	Ritscher-Schinzel Syndrome 2	35
1016	c	NNS018	Nonsyndromic Paraganglioma	35
1017	c	PRX050	Peroxisome Biogenesis Disorder 9b	35
1018	c	INC015	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2	35
1019	c	CRN214	Coronary Heart Disease 5	35
1020	c	SYN084	Synpolydactyly 1	35
1021	c	JBR045	Joubert Syndrome 33	35
1022	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	35
1023	c	BRD035	Bardet-Biedl Syndrome 15	35
1024	c	ALZ063	Alzheimer's Disease 1	35
1025	c	HYP518	Hypogonadotropic Hypogonadism 16 with or Without Anosmia	34
1026	c	NGH024	Night Blindness, Congenital Stationary, Type 1h	34
1027	c	CLR056	Ciliary Dyskinesia, Primary, 10	34
1028	c	NNN027	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2	34
1029	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	34
1030	c	CTR183	Cataract 38	34
1031	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	34
1032		PRC054	Perching Syndrome	34
1033		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	34
1034	c	BRC060	Brachydactyly, Type E2	34
1035	c	SPH014	Spherocytosis, Type 2	34
1036	c	INF002	Inflammatory Diarrhea	34
1037	c	MRG009	Meier-Gorlin Syndrome 2	34
1038	c	CLR101	Ciliary Dyskinesia, Primary, 25	34
1039	c	GLM047	Glioma Susceptibility 3	34
1040	c	PRK080	Porokeratosis 3, Multiple Types	34
1041	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	34
1042	c	JBR014	Joubert Syndrome 9	34
1043	c	HYP577	Hypotrichosis 13	34
1044	c	CRP022	Carpenter Syndrome 2	34
1045	c	TRC099	Trichothiodystrophy 2, Photosensitive	34
1046	c	ISL165	Isolated Microphthalmia 3	34
1047	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	34
1048	P	XLN255	X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders	34
1049		NRD024	Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart	34
1050	c	PRX057	Peroxisome Biogenesis Disorder 4a	34
1051	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	34
1052		PHS022	Phosphoserine Phosphatase Deficiency	34
1053	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	34
1054	c	ANX008	Anauxetic Dysplasia 2	34
1055	c	NNN024	Noonan Syndrome 9	33
1056	c	HRD226	Hereditary Spastic Paraplegia 49	33
1057	c	CRN306	Corneal Dystrophy, Posterior Polymorphous, 4	33
1058	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	33
1059	c	AMY079	Amyotrophic Lateral Sclerosis Type 15	33
1060		CHT006	Chitayat Syndrome	33
1061	c	DMN018	Diamond-Blackfan Anemia 5	33
1062	c	SPH015	Spherocytosis, Type 3	33
1063		GLT040	Glutamate-Cysteine Ligase Deficiency	33
1064	P	CHR084	Chromosomal Disease	33
1065	c	ACQ047	Acquired Methemoglobinemia	33
1066	c	EPL073	Epilepsy, Nocturnal Frontal Lobe, 1	33
1067		VSS004	Viss Syndrome	33
1068		CHR582	Chromosome 3q29 Duplication Syndrome	33
1069	c	ELL006	Elliptocytosis 3	33
1070		HYP808	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration	33
1071	P	MCR364	Macrodactyly	33
1072	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	33
1073	c	THY084	Thyrotoxic Periodic Paralysis 1	33
1074		CHL050	Cholesterol Ester Storage Disease	33
1075	P	ZMM001	Zimmermann-Laband Syndrome	33
1076		MYC071	Myoclonic-Atonic Epilepsy	33
1077	c	THY083	Thyrotoxic Periodic Paralysis 2	33
1078	P	RJB003	Rajab Interstitial Lung Disease with Brain Calcifications 1	33
1079		NRC023	Neuroocular Syndrome	33
1080	c	PLM139	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1	33
1081		CHR386	Chromosome 6pter-P24 Deletion Syndrome	33
1082	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	33
1083	c	INC031	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3	32
1084		ATN022	Autoinflammation, Antibody Deficiency, and Immune Dysregulation	32
1085	c	AMY081	Amyotrophic Lateral Sclerosis Type 12	32
1086		CLC008	Colchicine Resistance	32
1087	P	RTS001	Ritscher-Schinzel Syndrome	32
1088		BLR030	Bilirubin, Serum Level of, Quantitative Trait Locus 1	32
1089	c	GLM025	Glioma Susceptibility 2	32
1090	c	THR069	Three M Syndrome 2	32
1091	c	EPL086	Epilepsy, Idiopathic Generalized 9	32
1092		ATM052	Autoimmune Disease 1	32
1093	c	DRR009	Diarrhea 6	32
1094	c	PRT060	Parietal Foramina 2	32
1095		CMB013	Combined Oxidative Phosphorylation Deficiency 2	32
1096		SFR001	Sifrim-Hitz-Weiss Syndrome	32
1097	c	CRD216	Ceroid Lipofuscinosis, Neuronal, 9	32
1098	P	KNN002	Kenny-Caffey Syndrome	32
1099	c	TYP055	Type 1 Diabetes Mellitus 22	32
1100	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	32
1101	c	DMN005	Diamond-Blackfan Anemia 2	32
1102	c	GLL040	Galloway-Mowat Syndrome 3	32
1103	c	BRT039	Baraitser-Winter Syndrome 2	32
1104	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	32
1105	c	CTR185	Cataract 30	32
1106	c	DMN049	Diamond-Blackfan Anemia 20	32
1107	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	32
1108	c	EPL200	Epilepsy, Childhood Absence 1	31
1109	c	TYP038	Type 1 Diabetes Mellitus 15	31
1110		FBR097	Fibrosis, Neurodegeneration, and Cerebral Angiomatosis	31
1111	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	31
1112	c	TRC103	Trichothiodystrophy 5, Nonphotosensitive	31
1113	c	SCK033	Seckel Syndrome 8	31
1114	c	CLR069	Ciliary Dyskinesia, Primary, 8	31
1115	c	STS008	Sotos Syndrome 1	31
1116	c	DVL119	Developmental and Epileptic Encephalopathy 6b	31
1117		WSS006	Weiss-Kruszka Syndrome	31
1118	c	CNG514	Congenital Radioulnar Synostosis	31
1119		MCR365	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2	31
1120	c	ORF048	Orofacial Cleft 1	31
1121	P	ART169	Arthrogryposis Multiplex Congenita 6	31
1122	c	PSD107	Pseudo-Torch Syndrome 2	31
1123	c	NGH028	Night Blindness, Congenital Stationary, Type 1d	31
1124		HYP711	Hypotonia, Ataxia, and Delayed Development Syndrome	31
1125	c	SLV028	Silver-Russell Syndrome 3	31
1126	c	EPL098	Epilepsy, Idiopathic Generalized 12	31
1127		RGD002	Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal	31
1128		MLR020	Malaria, Mild	31
1129	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	31
1130		NRC022	Neurooculocardiogenitourinary Syndrome	31
1131		NRD103	Neurodevelopmental Disorder with Microcephaly and Gray Sclerae	31
1132	c	EPL202	Epilepsy, Nocturnal Frontal Lobe, 2	31
1133	c	RHM021	Rheumatoid Arthritis, Systemic Juvenile	31
1134	c	TRG015	Trigonocephaly 2	31
1135	c	ALZ050	Alzheimer Disease 5	30
1136	c	CNR023	Cone-Rod Dystrophy 8	30
1137	c	MNK005	Menke-Hennekam Syndrome 1	30
1138	c	OPT023	Optic Atrophy 2	30
1139	c	ART060	Arthrogryposis, Distal, Type 1b	30
1140		CRN126	Corneal Dystrophy, Lisch Epithelial	30
1141	P	CRN249	Cornea Plana	30
1142	c	JBR039	Joubert Syndrome 28	30
1143	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	30
1144	c	SHR100	Short-Rib Thoracic Dysplasia 15 with Polydactyly	30
1145	c	PRX058	Peroxisome Biogenesis Disorder 4b	30
1146	c	EPL205	Epilepsy, Idiopathic Generalized 13	30
1147	c	FNC062	Fanconi Anemia, Complementation Group S	30
1148	c	PRG094	Paragangliomas 5	30
1149	c	INF086	Inflammatory Bowel Disease 3	30
1150	c	HLP021	Holoprosencephaly 6	30
1151	c	SPS240	Spastic Paraplegia 83, Autosomal Recessive	30
1152	c	TRC117	Trichothiodystrophy 6, Nonphotosensitive	30
1153	c	AML064	Amelogenesis Imperfecta, Type Iiic	30
1154		HYP276	Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant	30
1155	c	MRG016	Meier-Gorlin Syndrome 8	30
1156	c	SCK032	Seckel Syndrome 6	30
1157	c	SPH017	Spherocytosis, Type 5	30
1158		MYP163	Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay	30
1159		CGN005	Cognitive Impairment with or Without Cerebellar Ataxia	30
1160		LNG113	Liang-Wang Syndrome	30
1161	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	30
1162		LBR035	Liberfarb Syndrome	30
1163	c	ORF014	Orofacial Cleft 5	30
1164	c	EPL091	Epilepsy, Idiopathic Generalized 3	29
1165	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	29
1166	c	HYP532	Hypogonadotropic Hypogonadism 18 with or Without Anosmia	29
1167	c	CLR067	Ciliary Dyskinesia, Primary, 4	29
1168		BMB001	Bombay Phenotype	29
1169	c	KLP008	Klippel-Feil Syndrome 2, Autosomal Recessive	29
1170		CMB083	Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia	29
1171	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	29
1172	c	DBT107	Diabetes Mellitus, Permanent Neonatal, 4	29
1173	c	SPS170	Spastic Ataxia 2	29
1174		ALR002	Al-Raqad Syndrome	29
1175	c	KRT029	Keratoconus 1	29
1176	c	VSC067	Visceral Neuropathy, Familial, 1, Autosomal Recessive	29
1177		TRN074	Turnpenny-Fry Syndrome	29
1178		MYP120	Myopathy, Distal, with Rimmed Vacuoles	29
1179	c	SPL070	Split-Hand/foot Malformation 2	29
1180	P	DYS190	Dystonia 28, Childhood-Onset	29
1181	c	CNG520	Congenital Heart Defects, Multiple Types, 6	29
1182	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
1183	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	29
1184	c	ORF028	Orofacial Cleft 10	29
1185	c	MRG011	Meier-Gorlin Syndrome 4	29
1186	c	CNR039	Cone-Rod Dystrophy, X-Linked, 2	29
1187	c	HRD188	Hereditary Spastic Paraplegia 72	29
1188	c	ATR034	Atrial Septal Defect 6	29
1189		MNT308	Mental Retardation with Optic Atrophy, Deafness, and Seizures	29
1190	c	FNC066	Fanconi Renotubular Syndrome 5	29
1191	c	LFT021	Left Ventricular Noncompaction 1	29
1192	c	SCH080	Schizophrenia 3	29
1193		FCT032	Factor Xiii, a Subunit, Deficiency of	29
1194	c	DMN022	Diamond-Blackfan Anemia 9	29
1195		INS034	Insulinomatosis and Diabetes Mellitus	29
1196		HMP033	Hemophagocytic Lymphohistiocytosis, Familial, 5, with or Without Microvillus Inclusion Disease	29
1197	c	CNG478	Congenital Diarrhea	29
1198	c	HYP522	Hypogonadotropic Hypogonadism 11 with or Without Anosmia	29
1199	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	29
1200	c	INF089	Inflammatory Bowel Disease 6	29
1201	c	ALZ059	Alzheimer Disease 13	28
1202	c	DRR021	Diarrhea 11, Malabsorptive, Congenital	28
1203	c	FRS015	Fraser Syndrome 3	28
1204	c	SCH064	Schizophrenia 10	28
1205		ATR088	Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects	28
1206	c	SYN064	Syndromic X-Linked Intellectual Disability	28
1207	c	PRM192	Premature Ovarian Failure 8	28
1208	c	TRM022	Tremor, Hereditary Essential, 5	28
1209	c	TRM020	Tremor, Hereditary Essential, 2	28
1210		CHR399	Chromosome 4q21 Deletion Syndrome	28
1211		HYP859	Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities	28
1212		IMM002	Immature Cataract	28
1213	c	PRX043	Peroxisome Biogenesis Disorder 6b	28
1214	c	CLR123	Ciliary Dyskinesia, Primary, 37	28
1215		SPS245	Spastic Paraplegia 56, Autosomal Recessive, with or Without Pseudoxanthoma Elasticum	28
1216	c	BNM032	Bone Marrow Failure Syndrome 4	28
1217	c	AGM015	Agammaglobulinemia 7, Autosomal Recessive	28
1218		SND015	Sandestig-Stefanova Syndrome	28
1219	c	PRX047	Peroxisome Biogenesis Disorder 5b	28
1220	c	SPN380	Spinal Muscular Atrophy with Congenital Bone Fractures 2	28
1221	c	HML035	Hemolytic Uremic Syndrome, Atypical 2	28
1222		MYC092	Myoectodermal Gonadal Dysgenesis Syndrome	28
1223	c	GNT045	Giant Axonal Neuropathy 2	28
1224		NRD083	Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies	28
1225	c	PRM090	Premature Ovarian Failure 6	28
1226	c	CRN120	Corneal Dystrophy, Fuchs Endothelial, 3	28
1227		JNS007	Jansen-De Vries Syndrome	28
1228	c	HYP528	Hypotrichosis 11	28
1229	c	PRM089	Premature Ovarian Failure 3	28
1230		CMB077	Combined Oxidative Phosphorylation Deficiency 30	28
1231	c	MLG080	Malignant Secondary Hypertension	28
1232	c	PRM094	Premature Ovarian Failure 5	28
1233	P	ADP010	Adiponectin, Serum Level of, Quantitative Trait Locus 1	28
1234	c	DMN019	Diamond-Blackfan Anemia 4	28
1235	P	PRT259	Proteasome-Associated Autoinflammatory Syndrome	28
1236	c	ATR047	Atrioventricular Septal Defect 2	28
1237	c	GLY093	Glycogen Storage Disease Ixa	28
1238	c	SCH061	Schizophrenia 16	28
1239	c	PRM207	Premature Ovarian Failure 10	28
1240	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	28
1241	c	LPR007	Leopard Syndrome 3	28
1242	c	DYS121	Dyslexia 1	28
1243	c	NRL039	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 2	28
1244		NRD080	Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities	28
1245	c	LNG052	Long Qt Syndrome 8	28
1246	c	HTR009	Heterotaxy, Visceral, 2, Autosomal	27
1247	c	DBT105	Diabetes Mellitus, Permanent Neonatal, 2	27
1248	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	27
1249	c	UVS005	Uv-Sensitive Syndrome 1	27
1250	c	PRX068	Peroxisome Biogenesis Disorder 7b	27
1251		NRD124	Neurodevelopmental Disorder with Dysmorphic Features, Spasticity, and Brain Abnormalities	27
1252	P	AST056	Asthma-Related Traits 2	27
1253	c	MCK020	Meckel Syndrome, Type 11	27
1254		PRM087	Premature Chromatid Separation Trait	27
1255		MTR001	Mature Cataract	27
1256	c	PRK083	Parkinson Disease 22, Autosomal Dominant	27
1257	c	CRN110	Cranioectodermal Dysplasia 3	27
1258	c	SHR129	Short-Rib Thoracic Dysplasia 21 Without Polydactyly	27
1259	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	27
1260	c	SPS136	Spastic Ataxia 3, Autosomal Recessive	27
1261	c	CLR054	Ciliary Dyskinesia, Primary, 12	27
1262	P	PST016	Posterior Polar Cataract	27
1263	c	MLT078	Multiple Synostoses Syndrome 3	27
1264		CHR366	Chromosome 5p13 Duplication Syndrome	27
1265	c	SCH053	Schizophrenia 13	27
1266	c	INT563	Intellectual Developmental Disorder, Autosomal Dominant 57	27
1267	c	ART167	Arthrogryposis Multiplex Congenita 5	27
1268	c	46X048	46,xx Sex Reversal 2	27
1269	P	NRD134	Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies	27
1270		HRS016	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	27
1271	c	CTR180	Cataract 22, Multiple Types	27
1272	c	INF072	Inflammatory Bowel Disease 11	27
1273		INC037	Inclusion Body Myopathy and Brain White Matter Abnormalities	27
1274		CMP094	Complement Component 4b Deficiency	27
1275	c	DVL120	Developmental and Epileptic Encephalopathy 95	27
1276	c	BRG010	Brugada Syndrome 8	27
1277		CMP095	Complement Component 4a Deficiency	27
1278	c	MCR282	Microcephaly and Chorioretinopathy 1	27
1279		DGC001	Degcags Syndrome	27
1280	c	DVL088	Developmental and Epileptic Encephalopathy 64	27
1281	c	SPS171	Spastic Ataxia 5	27
1282	c	HML034	Hemolytic Uremic Syndrome, Atypical 3	27
1283	c	HYP578	Hypotrichosis 12	27
1284	c	ENC060	Encephalopathy, Acute, Infection-Induced 1	27
1285		DVL021	Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities	27
1286	c	RBN023	Robinow Syndrome, Autosomal Recessive 2	27
1287	c	STS011	Sitosterolemia 2	27
1288	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	27
1289		SNJ003	Snijders Blok-Fisher Syndrome	27
1290	c	PRK098	Parkinson Disease 5, Autosomal Dominant	27
1291		PRT043	Parietal Foramina with Cleidocranial Dysplasia	27
1292	c	ACR124	Aicardi-Goutieres Syndrome 9	27
1293		LKN032	Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness	26
1294		DLC002	D-Lactic Aciduria with Gout	26
1295	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	26
1296	c	GLL027	Gallbladder Disease 4	26
1297	c	CNG511	Congenital Heart Defects, Multiple Types, 2	26
1298	c	HML037	Hemolytic Uremic Syndrome, Atypical 5	26
1299		STN014	Stankiewicz-Isidor Syndrome	26
1300		DHS002	Deeah Syndrome	26
1301		MYP165	Myopathy, Epilepsy, and Progressive Cerebral Atrophy	26
1302	c	PLZ002	Pelizaeus-Merzbacher-Like Disease	26
1303		FBR100	Fibromuscular Dysplasia, Multifocal	26
1304	c	HYP557	Hypogonadotropic Hypogonadism 19 with or Without Anosmia	26
1305	c	NBS001	Nabais Sa-De Vries Syndrome, Type 1	26
1306	c	EPL089	Epilepsy, Idiopathic Generalized 4	26
1307	c	HYP443	Hypogonadotropic Hypogonadism 13 with or Without Anosmia	26
1308	c	LKD027	Leukodystrophy, Hypomyelinating, 14	26
1309	c	HTR020	Heterotaxy, Visceral, 8, Autosomal	26
1310	c	MCR219	Microphthalmia, Isolated 8	26
1311	c	MRG014	Meier-Gorlin Syndrome 6	26
1312	c	PRM091	Premature Ovarian Failure 2b	26
1313	c	FRM005	Frmd7-Related Infantile Nystagmus	26
1314		MTC178	Mitochondrial Complex I Deficiency, Nuclear Type 33	26
1315	c	AMY074	Amyotrophic Lateral Sclerosis Type 14	26
1316		CMB072	Combined Oxidative Phosphorylation Deficiency 28	26
1317		BLR033	Biliary, Renal, Neurologic, and Skeletal Syndrome	26
1318	c	BRN143	Bronchiectasis 1	26
1319		CNZ011	Coenzyme Q10 Deficiency, Primary, 8	26
1320	c	HYP521	Hypogonadotropic Hypogonadism 10 with or Without Anosmia	26
1321	c	PRM254	Premature Ovarian Failure 11	26
1322		FGS002	Fg Syndrome 2	26
1323	c	GLL042	Galloway-Mowat Syndrome 5	26
1324	c	ATR067	Atrioventricular Septal Defect 4	26
1325	c	HTR023	Heterotaxy, Visceral, 6, Autosomal	26
1326	c	EPL261	Epilepsy, X-Linked 1, with Variable Learning Disabilities and Behavior Disorders	26
1327	c	ART102	Arterial Calcification, Generalized, of Infancy, 2	26
1328	c	46X046	46,xy Sex Reversal 4	26
1329	c	HML032	Hemolytic Uremic Syndrome, Atypical 4	26
1330	c	DVL127	Developmental and Epileptic Encephalopathy 98	26
1331	c	CNG623	Congenital Disorder of Glycosylation, Type Iiw	26
1332	c	LTH029	Lethal Congenital Contracture Syndrome 9	26
1333	c	DVL128	Developmental and Epileptic Encephalopathy 99	26
1334		RHN013	Rh-Null, Regulator Type	26
1335	c	OPT025	Optic Atrophy 6	26
1336	c	SPN455	Spinocerebellar Ataxia, Autosomal Recessive 31	26
1337	c	HYP884	Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive	26
1338	c	OCY003	Oocyte Maturation Defect 1	26
1339	c	SYN088	Synpolydactyly 2	26
1340	c	TWN010	Townes-Brocks Syndrome 2	26
1341	c	HRM020	Hermansky-Pudlak Syndrome 10	26
1342	c	PRM253	Premature Ovarian Failure 13	26
1343	c	JBR049	Joubert Syndrome 37	26
1344	c	ALZ014	Alzheimer Disease 16	26
1345		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	26
1346	c	SHR116	Short-Rib Thoracic Dysplasia 20 with Polydactyly	26
1347	c	SCH084	Schizophrenia 8	26
1348	c	PRR022	Perrault Syndrome 2	26
1349	c	PRK099	Parkinson Disease 18, Autosomal Dominant	26
1350	c	DBT106	Diabetes Mellitus, Permanent Neonatal, 3	26
1351	c	EPL093	Epilepsy, Idiopathic Generalized 7	26
1352	c	CNG622	Congenital Disorder of Glycosylation, Type 2v	26
1353	c	RDL040	Radioulnar Synostosis, Nonsyndromic	26
1354	c	SPN401	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	26
1355		SDD009	Sudden Cardiac Failure, Infantile	26
1356	c	CTR121	Cataract 25	26
1357	c	HTR018	Heterotaxy, Visceral, 7, Autosomal	25
1358	c	LTH042	Lethal Congenital Contracture Syndrome 10	25
1359	c	CHR565	Chromosomal Deletion Syndrome	25
1360	c	HYP444	Hypogonadotropic Hypogonadism 9 with or Without Anosmia	25
1361	c	FNC061	Fanconi Anemia, Complementation Group W	25
1362		TNR001	Tenorio Syndrome	25
1363	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	25
1364	c	LTH032	Lethal Congenital Contracture Syndrome 7	25
1365	c	NNP011	Nanophthalmos 2	25
1366	c	ORF025	Orofacial Cleft 6	25
1367	c	GLL045	Galloway-Mowat Syndrome 6	25
1368	P	MNK007	Menke-Hennekam Syndrome	25
1369	c	ORF023	Orofacial Cleft 4	25
1370	c	GLL046	Galloway-Mowat Syndrome 7	25
1371	c	RTS005	Ritscher-Schinzel Syndrome 4	25
1372	c	CNG521	Congenital Heart Defects, Multiple Types, 5	25
1373		DLY011	Delayed Puberty, Self-Limited	25
1374	c	DRR018	Diarrhea 9	25
1375	c	INF082	Inflammatory Bowel Disease 23	25
1376	c	HYP833	Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	25
1377	c	ATS370	Autism 3	25
1378	c	CRN280	Cornea Plana 2, Autosomal Recessive	25
1379	c	OPT060	Optic Atrophy 8	25
1380	c	LNG114	Long Qt Syndrome 16	25
1381	c	BNG021	Benign Essential Hypertension	25
1382	c	DVL032	Developmental and Epileptic Encephalopathy 90	25
1383	c	DYS212	Dystonia 30	25
1384	c	ATR071	Atrioventricular Septal Defect 5	25
1385		GND018	Gene Duplication Disease	25
1386		CRB041	Carboxypeptidase N Deficiency	25
1387	c	SYM019	Symphalangism, Proximal, 1b	25
1388	c	DVL131	Developmental and Epileptic Encephalopathy 100	25
1389		SDD011	Siddiqi Syndrome	25
1390	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	25
1391	c	ANX011	Anauxetic Dysplasia 3	25
1392	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	25
1393	c	CHR465	Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity	25
1394		MRG001	Morgagni Cataract	25
1395	P	PRK067	Porokeratosis 8, Disseminated Superficial Actinic Type	25
1396		ALZ029	Alzheimer Disease Mitochondrial	25
1397	c	TRS025	Torsion Dystonia 2	25
1398		CNG512	Congenital Disorder of Glycosylation, Type Iaa	25
1399	c	DMN045	Diamond-Blackfan Anemia-Like	25
1400	c	BLP049	Blepharocheilodontic Syndrome 2	25
1401	c	PRR026	Perrault Syndrome 5	25
1402	c	INT407	Intellectual Developmental Disorder, X-Linked, Syndromic 11	25
1403		NRD141	Neurodevelopmental Disorder with Spasticity, Hypomyelinating Leukodystrophy, and Brain Abnormalities	25
1404		FND007	Faundes-Banka Syndrome	25
1405	c	ALZ015	Alzheimer Disease 6	25
1406	c	MNK006	Menke-Hennekam Syndrome 2	25
1407	c	GLL041	Galloway-Mowat Syndrome 4	25
1408	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	25
1409	c	DYS120	Dyslexia 2	25
1410	P	OCY002	Oocyte Maturation Defect 2	25
1411		NRD114	Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities	25
1412		SHR128	Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay	25
1413	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	25
1414	c	CLR107	Ciliary Dyskinesia, Primary, 24	25
1415	c	KNB005	Knobloch Syndrome 2	25
1416		HYP865	Hypogonadotropic Hypogonadism 25 with Anosmia	25
1417	c	STS007	Sotos Syndrome 2	25
1418	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	24
1419	c	LYS031	Loeys-Dietz Syndrome 6	24
1420		CMB100	Combined Oxidative Phosphorylation Deficiency 44	24
1421	c	MYM003	Moyamoya Disease 5	24
1422	c	PRX056	Peroxisome Biogenesis Disorder 11b	24
1423	c	HYP882	Hypogonadotropic Hypogonadism 26 with or Without Anosmia	24
1424		CHR362	Chromosome 17q21.31 Duplication Syndrome	24
1425	c	SCK037	Seckel Syndrome 9	24
1426	c	LTH030	Lethal Congenital Contracture Syndrome 8	24
1427	c	ORF047	Orofacial Cleft 15	24
1428		CHR569	Chromosomal Duplication Syndrome	24
1429	c	CNR027	Cone-Rod Dystrophy 17	24
1430	c	PRK094	Parkinson Disease 11, Autosomal Dominant	24
1431		NRD100	Neurodevelopmental, Jaw, Eye, and Digital Syndrome	24
1432	c	SCK038	Seckel Syndrome 10	24
1433	c	ALZ061	Alzheimer Disease 15	24
1434		CMP063	Complement Factor B Deficiency	24
1435	c	GLC054	Glaucoma 3, Primary Congenital, D	24
1436	c	INF092	Inflammatory Bowel Disease 9	24
1437	c	NNN038	Noonan Syndrome 14	24
1438	c	DYS068	Dystonia 7, Torsion	24
1439		KHN002	Khan-Khan-Katsanis Syndrome	24
1440	c	SLV031	Silver-Russell Syndrome 5	24
1441		AML013	Amelogenesis Imperfecta, Hypomaturation Type, Iia1	24
1442	c	PRC034	Preeclampsia/eclampsia 4	24
1443		CHR490	Chromosome 10q23 Deletion Syndrome	24
1444		CHR607	Chorea, Childhood-Onset, with Psychomotor Retardation	24
1445	P	BRY006	Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	24
1446	c	MCK037	Meckel Syndrome 14	24
1447		ATN024	Autoinflammation, Immune Dysregulation, and Eosinophilia	24
1448	c	DWL003	Dowling-Degos Disease 2	24
1449	c	HYP762	Hypothyroidism, Congenital, Nongoitrous, 5	24
1450	c	TTH012	Tooth Agenesis, Selective, 3	24
1451	c	AML050	Amelogenesis Imperfecta, Type if	24
1452		RBN013	Robinow-Sorauf Syndrome	24
1453	c	JVN058	Juvenile-Onset Parkinson's Disease	24
1454	c	INF074	Inflammatory Bowel Disease 15	24
1455		PRT130	Protein Z Deficiency	24
1456	c	MTH083	Methemoglobinemia, Beta Type	24
1457	c	DMN028	Diamond-Blackfan Anemia 12	24
1458	c	DYS217	Dyskinesia with Orofacial Involvement, Autosomal Recessive	24
1459		MTC162	Mitochondrial Complex I Deficiency, Nuclear Type 15	24
1460	c	HYP857	Hypothyroidism, Congenital, Nongoitrous, 8	24
1461		SHR131	Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, and Ocular Anomalies	24
1462	c	MCR243	Microcephaly 8, Primary, Autosomal Recessive	24
1463	c	PSD121	Pseudo-Torch Syndrome 3	24
1464		FCT033	Factor Xiii, B Subunit, Deficiency of	24
1465	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	24
1466	c	SYS081	Systemic Lupus Erythematosus 17	24
1467	c	SCH082	Schizophrenia 5	24
1468	c	CTR165	Cataract 19, Multiple Types	24
1469	P	HRM021	Hair Morphology 2	24
1470		MCR366	Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome	24
1471	c	46X059	46,xx Sex Reversal 4	24
1472	c	PRM292	Premature Ovarian Failure 14	24
1473	c	SPS214	Spastic Ataxia 4	24
1474	c	MCR272	Microcephaly and Chorioretinopathy, Autosomal Recessive, 3	24
1475	c	CNG616	Congenital Heart Defects, Multiple Types, 7	24
1476	c	DPH016	Diaphragmatic Hernia 3	24
1477		CTR107	Cataract 13 with Adult I Phenotype	24
1478	c	AMY089	Amyotrophic Lateral Sclerosis 7	24
1479	c	CLR139	Ciliary Dyskinesia, Primary, 39	24
1480		CMB115	Combined Oxidative Phosphorylation Deficiency 55	24
1481	c	GRN065	Granulomatous Disease, Chronic, Autosomal Recessive, 5	24
1482	c	DYS138	Dystonia 21	23
1483		MYP073	Myopia, High, with Cataract and Vitreoretinal Degeneration	23
1484	c	PRM349	Premature Ovarian Failure 18	23
1485		INS015	Inosine Triphosphatase Deficiency	23
1486		LPS021	Lopes-Maciel-Rodan Syndrome	23
1487		CMB103	Combined Oxidative Phosphorylation Deficiency 47	23
1488		HML010	Hemolytic Anemia Due to Glutathione Reductase Deficiency	23
1489	c	GLL053	Galloway-Mowat Syndrome 10	23
1490	c	ALZ032	Alzheimer Disease 18	23
1491		XLN076	X-Linked Cerebellar Ataxia	23
1492	c	AMY109	Amyotrophic Lateral Sclerosis Type 22	23
1493	c	LDD008	Liddle Syndrome 2	23
1494	c	ENC037	Encephalopathy, Acute, Infection-Induced 6	23
1495	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	23
1496	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	23
1497	c	PRC045	Preeclampsia/eclampsia 5	23
1498	c	CTR157	Cataract 28	23
1499		MYM015	Moyamoya Disease 6 with or Without Achalasia	23
1500	c	MCR283	Microcephaly and Chorioretinopathy 2	23
1501		MTC176	Mitochondrial Complex I Deficiency, Nuclear Type 31	23
1502	P	NNP004	Nonphotosensitive Trichothiodystrophy	23
1503	c	SCH088	Schwannomatosis 2	23
1504	P	HYP893	Hypomagnesemia, Seizures, and Impaired Intellectual Development 2	23
1505	c	PRM191	Premature Ovarian Failure 9	23
1506		NRD117	Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities	23
1507	c	GLY001	Glycogen Storage Disease Ix	23
1508	c	ORF016	Orofacial Cleft 8	23
1509	c	MTC236	Mitochondrial Dna Depletion Syndrome 20	23
1510	c	STS009	Sotos Syndrome 3	23
1511	c	AGM028	Agammaglobulinemia 8b, Autosomal Recessive	23
1512	c	RJB004	Rajab Interstitial Lung Disease with Brain Calcifications 2	23
1513		ZKS001	Zaki Syndrome	23
1514		ACC008	Accelerated Tumor Formation	23
1515		NRD128	Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism, and Brain Abnormalities	23
1516	c	ZMM003	Zimmermann-Laband Syndrome 2	23
1517		WBB001	Webb-Dattani Syndrome	23
1518	P	ISL020	Isolated Microphthalmia	23
1519		CNZ012	Coenzyme Q10 Deficiency, Primary, 9	23
1520	c	DYS219	Dystonia 33	23
1521	c	46X056	46,xy Sex Reversal 5	23
1522	c	FNC049	Fanconi Renotubular Syndrome 3	23
1523		ALZ044	Alazami-Yuan Syndrome	23
1524	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	23
1525		TWN007	Twinning, Dizygotic	23
1526		LYS024	Lysosomal and Lipase Deficiency	23
1527		GLL039	Galloway-Mowat Syndrome 2, X-Linked	23
1528	c	ANG072	Angioedema, Hereditary, 4	23
1529	c	BRY007	Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	23
1530	c	PRT255	Proteasome-Associated Autoinflammatory Syndrome 4	23
1531		PLY167	Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive	23
1532	c	MLG039	Malignant Essential Hypertension	23
1533		NRD137	Neurodevelopmental-Craniofacial Syndrome with Variable Renal and Cardiac Abnormalities	23
1534	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	23
1535	c	GLL047	Galloway-Mowat Syndrome 8	23
1536	c	EPL136	Epilepsy, Childhood Absence 5	23
1537	c	HYP871	Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	23
1538	c	DMN030	Diamond-Blackfan Anemia 13	23
1539	c	SYN082	Syndromic X-Linked Intellectual Disability 14	23
1540	c	BNM033	Bone Marrow Failure Syndrome 5	23
1541	c	AGM027	Agammaglobulinemia 8a, Autosomal Dominant	23
1542		SLM004	Suleiman-El-Hattab Syndrome	23
1543	c	DYS216	Dystonia 32	23
1544	P	MCL058	Macular Degeneration, Early-Onset	23
1545	P	HYP885	Hyper-Ige Recurrent Infection Syndrome 4a, Autosomal Dominant	23
1546		SHR130	Short Stature, Dauber-Argente Type	22
1547		MTC219	Mitochondrial Complex Iv Deficiency, Nuclear Type 11	22
1548		ART135	Arthrogryposis, Perthes Disease, and Upward Gaze Palsy	22
1549	c	DVL132	Developmental and Epileptic Encephalopathy 101	22
1550	c	CRB168	Cerebroretinal Microangiopathy with Calcifications and Cysts 2	22
1551	c	SCK022	Sick Sinus Syndrome 3	22
1552	c	MRT011	Martsolf Syndrome 2	22
1553	c	SPS163	Spastic Ataxia 3	22
1554	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	22
1555	c	ALZ060	Alzheimer Disease 14	22
1556	c	AGM025	Agammaglobulinemia 9, Autosomal Recessive	22
1557	c	HYP876	Hypertriglyceridemia 2	22
1558	c	ATS376	Autism 15	22
1559	c	ATS474	Autism 20	22
1560	c	AML059	Amelogenesis Imperfecta, Type Ij	22
1561	c	ATS369	Autism 8	22
1562	c	EPL092	Epilepsy, Idiopathic Generalized 2	22
1563	c	CRN147	Corneal Dystrophy, Fuchs Endothelial, 6	22
1564		ALP088	Alpha-Fetoprotein, Hereditary Persistence of	22
1565	c	ALZ031	Alzheimer Disease 17	22
1566		LKD024	Leukodystrophy and Acquired Microcephaly with or Without Dystonia	22
1567	c	CLD017	Cold-Induced Sweating Syndrome 3	22
1568	c	ATS438	Autosomal Recessive Spastic Ataxia	22
1569	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	22
1570	c	WHT015	White Sponge Nevus 2	22
1571	c	ATR064	Atrioventricular Septal Defect 3	22
1572		CYN002	Cyanosis, Transient Neonatal	22
1573	c	OCY004	Oocyte Maturation Defect 3	22
1574	c	TRC127	Trichothiodystrophy 8, Nonphotosensitive	22
1575	c	INF195	Inflammatory Bowel Disease 31, Autosomal Recessive	22
1576		ATN029	Autoinflammatory-Pancytopenia Syndrome	22
1577	c	DVL124	Developmental and Epileptic Encephalopathy 97	22
1578	c	HTR029	Heterotaxy, Visceral, 12, Autosomal	22
1579		NRD121	Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures	22
1580		ACT240	Actn3 Deficiency	22
1581	c	CTR106	Cataract 20, Multiple Types	22
1582	c	SYS040	Systemic Lupus Erythematosus 10	22
1583	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	22
1584		IMM245	Immunodeficiency 82 with Systemic Inflammation	22
1585		MTC203	Mitochondrial Complex I Deficiency, Nuclear Type 34	22
1586	c	LKN034	Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2	22
1587	c	LTH031	Lethal Congenital Contracture Syndrome 6	22
1588	c	RTN148	Retinitis Pigmentosa 63	22
1589		KRY003	Kury-Isidor Syndrome	22
1590	P	PRM176	Premature Ovarian Failure 2a	22
1591		MTC156	Mitochondrial Complex I Deficiency, Nuclear Type 8	22
1592	c	CLR124	Ciliary Dyskinesia, Primary, 34	22
1593		NRD125	Neurodevelopmental Disorder with Seizures and Gingival Overgrowth	22
1594	c	NRD047	Neurodegeneration with Brain Iron Accumulation 7	22
1595		CMB107	Combined Oxidative Phosphorylation Deficiency 51	22
1596		VNT039	Ventriculomegaly and Arthrogryposis	22
1597		MTC095	Mitochondrial Complex Iii Deficiency, Nuclear Type 7	22
1598	c	NRC017	Narcolepsy 7	22
1599	c	DYS214	Dystonia 31	22
1600	c	EPL137	Epilepsy, Childhood Absence 6	22
1601		NCT013	N-Acetylaspartate Deficiency	22
1602	c	CNG618	Congenital Nystagmus 1	22
1603	c	HYP712	Hypercalcemia, Infantile, 2	22
1604		CMP091	Complement Component C1s Deficiency	22
1605		IMM266	Immunodeficiency 96	22
1606	c	GNT040	Giant Axonal Neuropathy 2, Autosomal Dominant	22
1607		MTC214	Mitochondrial Complex I Deficiency, Nuclear Type 35	22
1608		IMM260	Immunodeficiency 91 and Hyperinflammation	22
1609	c	DVL121	Developmental and Epileptic Encephalopathy 96	22
1610	c	SYS038	Systemic Lupus Erythematosus 2	22
1611		LPD042	Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency	22
1612	c	KRT075	Keratoconus 9	22
1613		ERY039	Erythrocyte Amp Deaminase Deficiency	22
1614	c	SPS233	Spastic Ataxia 9, Autosomal Recessive	22
1615	c	PST001	Posterior Myocardial Infarction	22
1616	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	22
1617		MTC232	Mitochondrial Complex I Deficiency, Nuclear Type 37	22
1618	c	PRV016	Periventricular Nodular Heterotopia 6	22
1619	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	22
1620	c	GLC089	Glaucoma 3, Primary Congenital, E	22
1621	c	ENC063	Encephalopathy, Acute, Infection-Induced 7	22
1622	c	HYP858	Hypothyroidism, Congenital, Nongoitrous, 9	22
1623	c	DVL134	Developmental and Epileptic Encephalopathy 102	22
1624	c	MTC213	Mitochondrial Dna Depletion Syndrome 19	21
1625	c	MRR010	Mirror Movements 2	21
1626	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	21
1627	c	NRD048	Neurodegeneration with Brain Iron Accumulation 8	21
1628	c	RST026	Restrictive Dermopathy 2	21
1629	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	21
1630		ATX038	Ataxia and Polyneuropathy, Adult-Onset	21
1631	c	HLP022	Holoprosencephaly 8	21
1632	c	PRG138	Paragangliomas 7	21
1633	c	PRX089	Peroxisome Biogenesis Disorder 10b	21
1634		CMB098	Combined Oxidative Phosphorylation Deficiency 42	21
1635	c	PRM255	Premature Ovarian Failure 12	21
1636	c	RTS004	Ritscher-Schinzel Syndrome 3	21
1637	c	DVL135	Developmental and Epileptic Encephalopathy 103	21
1638	c	STC020	Stickler Syndrome, Type Vi	21
1639		MTC233	Mitochondrial Complex Iv Deficiency, Nuclear Type 22	21
1640		CHT005	Chitotriosidase Deficiency	21
1641		NRF027	Neurofacioskeletal Syndrome with or Without Renal Agenesis	21
1642		BDN003	Boudin-Mortier Syndrome	21
1643	c	CLD022	Cleidocranial Dysplasia 2	21
1644		MTC161	Mitochondrial Complex I Deficiency, Nuclear Type 14	21
1645	c	NRD152	Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies	21
1646		HYP645	Hyperthyroxinemia, Dystransthyretinemic	21
1647	c	NNP017	Nanophthalmos 1	21
1648		MTC201	Mitochondrial Complex V Deficiency, Nuclear Type 6	21
1649	c	MYC058	Myocardial Infarction 2	21
1650	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	21
1651		ACT133	Acetylation, Slow	21
1652		YNB001	Yoon-Bellen Neurodevelopmental Syndrome	21
1653	c	KMT002	Kmt2b-Related Dystonia	21
1654		HYP806	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	21
1655	c	PNT060	Pontocerebellar Hypoplasia, Type 17	21
1656	c	CTR144	Cataract 43	21
1657	c	STV011	Stuve-Wiedemann Syndrome 2	21
1658	c	PRT135	Protoporphyria, Erythropoietic, 2	21
1659		VNT040	Ventricular Arrhythmias Due to Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	21
1660	c	EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	21
1661	c	ENC062	Encephalopathy, Acute, Infection-Induced 5	21
1662	P	PRM016	Primary Optic Atrophy	21
1663		TTN002	Tetanic Cataract	21
1664		INT481	Intellectual Disability and Myopathy Syndrome	21
1665		MTC089	Mitochondrial Complex Iii Deficiency, Nuclear Type 3	21
1666	c	DVL141	Developmental and Epileptic Encephalopathy 106	21
1667	c	INF087	Inflammatory Bowel Disease 4	21
1668	c	CRN328	Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 2	21
1669	c	DWL004	Dowling-Degos Disease 4	21
1670		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	21
1671		ADN039	Adenosine Triphosphate, Elevated, of Erythrocytes	21
1672		DVL126	Developmental Delay, Hypotonia, Musculoskeletal Defects, and Behavioral Abnormalities	21
1673		VTR011	Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia	21
1674	c	MCR372	Microcephaly 25, Primary, Autosomal Recessive	21
1675		CMB097	Combined Oxidative Phosphorylation Deficiency 41	21
1676	c	BRC080	Brachydactyly, Type A1, B	21
1677		CRT003	Cortical Senile Cataract	21
1678	c	OVR127	Ovarian Dysgenesis 9	21
1679	c	DYS223	Dystonia 28	21
1680	c	INF090	Inflammatory Bowel Disease 7	20
1681	c	DMN040	Diamond-Blackfan Anemia 16	20
1682	c	HYP573	Hypotrichosis 5	20
1683	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	20
1684		HYN001	Heyn-Sproul-Jackson Syndrome	20
1685	c	OPT059	Optic Atrophy 4	20
1686	c	ATS378	Autism 17	20
1687	c	CTR159	Cataract 35	20
1688	c	MTC200	Mitochondrial Dna Depletion Syndrome 17	20
1689		LKD036	Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy	20
1690	c	ERY068	Erythrokeratodermia Variabilis Et Progressiva 6	20
1691	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	20
1692	c	GLL052	Galloway-Mowat Syndrome 9	20
1693	c	DVL136	Developmental and Epileptic Encephalopathy 104	20
1694	c	HYP883	Hypogonadotropic Hypogonadism 27 Without Anosmia	20
1695		NRD155	Neurodevelopmental Disorder with Hypotonia, Impaired Speech, and Behavioral Abnormalities	20
1696	c	PRM295	Premature Ovarian Failure 15	20
1697		RDC015	Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction	20
1698	c	WRD034	Waardenburg Syndrome, Type 2f	20
1699		MTC148	Mitochondrial Complex I Deficiency, Nuclear Type 30	20
1700	c	ANR046	Aniridia 3	20
1701	c	SLV030	Silver-Russell Syndrome 4	20
1702	c	HYP886	Hypoalphalipoproteinemia, Primary, 2, Intermediate	20
1703	c	ENC072	Encephalopathy, Acute, Infection-Induced 10	20
1704		SPN422	Spondyloepimetaphyseal Dysplasia, Di Rocco Type	20
1705	c	ORF049	Orofacial Cleft 3	20
1706	c	AGM026	Agammaglobulinemia 10, Autosomal Dominant	20
1707	c	LFT020	Left Ventricular Noncompaction 7	20
1708		HYP659	Hypomyelinating Leukoencephalopathy	20
1709	c	ATM050	Autoimmune Thyroid Disease 3	20
1710	c	ANG073	Angioedema, Hereditary, 5	20
1711		ENC067	Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis	20
1712		NRD153	Neurodevelopmental Disorder with Neuromuscular and Skeletal Abnormalities	20
1713		RHZ016	Rhizomelic Limb Shortening with Dysmorphic Features	20
1714	c	ORF050	Orofacial Cleft 2	20
1715	c	PLY144	Polydactyly, Postaxial, Type A7	20
1716	c	ANG074	Angioedema, Hereditary, 6	20
1717		MCR381	Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1	20
1718	c	PSR022	Psoriasis 15, Pustular	20
1719	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	20
1720		TTH014	Tooth Agenesis, Selective, X-Linked, 1	20
1721	c	MCR363	Microcephaly 23, Primary, Autosomal Recessive	20
1722	c	ATS377	Autism 16	20
1723	P	URC014	Uric Acid Concentration, Serum, Quantitative Trait Locus 1	20
1724	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	20
1725	c	HYD070	Hydrocephalus, Congenital Communicating, 1	20
1726	c	DMN039	Diamond-Blackfan Anemia 17	20
1727	c	DYS220	Dystonia 34, Myoclonic	20
1728	P	ERY016	Erythropoietic Protoporphyria, Autosomal Recessive	20
1729	c	INF080	Inflammatory Bowel Disease 21	20
1730	c	PRK025	Parkinson Disease 10	20
1731		MTC202	Mitochondrial Complex Iii Deficiency, Nuclear Type 10	20
1732		SPN457	Spondylometaphyseal Dysplasia, Pagnamenta Type	20
1733		MTC216	Mitochondrial Complex Iv Deficiency, Nuclear Type 7	20
1734	c	HLP034	Holoprosencephaly 14	20
1735		ANN009	Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly	20
1736	c	PRM378	Premature Ovarian Failure 20	20
1737		MCR388	Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, and Persistent Fetal Hemoglobin	20
1738		ATN030	Autoinflammatory Disease, Systemic, X-Linked	20
1739		GRW045	Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies	20
1740	c	ANN021	Anencephaly 2	20
1741	c	DMN047	Diamond-Blackfan Anemia 18	20
1742	c	PRK058	Parkinson Disease 16	20
1743	c	HTR028	Heterotaxy, Visceral, 11, Autosomal, with Male Infertility	20
1744	c	VSC068	Visceral Neuropathy, Familial, 3, Autosomal Dominant	20
1745	c	NLD011	Nail Disorder, Nonsyndromic Congenital, 2	20
1746	c	46X050	46,xx Sex Reversal 3	19
1747		CMB114	Combined Oxidative Phosphorylation Deficiency 54	19
1748	c	KLP006	Klippel-Feil Syndrome 3, Autosomal Dominant	19
1749		OPH021	Ophthalmoplegia, External, with Rib and Vertebral Anomalies	19
1750	c	TRC128	Trichothiodystrophy 9, Nonphotosensitive	19
1751		DGN006	Digenic Disease	19
1752	c	SYS041	Systemic Lupus Erythematosus 9	19
1753	c	CRN279	Cornea Plana 1, Autosomal Dominant	19
1754		CMB090	Combined Oxidative Phosphorylation Deficiency 38	19
1755		MTC098	Mitochondrial Complex Iii Deficiency, Nuclear Type 9	19
1756	c	CLR147	Ciliary Dyskinesia, Primary, 46	19
1757	c	EPL247	Epilepsy, Idiopathic Generalized 16	19
1758		CHR385	Chromosome 2q31.2 Deletion Syndrome	19
1759		SLF020	Sulfide:quinone Oxidoreductase Deficiency	19
1760	c	DYS058	Dystonia 15, Myoclonic	19
1761	c	DVL142	Developmental and Epileptic Encephalopathy 107	19
1762	c	MLT120	Multiple Fibroadenomas of the Breast	19
1763	c	MCR368	Microcephaly 24, Primary, Autosomal Recessive	19
1764		CMP040	Complement Component 4, Partial Deficiency of	19
1765		CMB111	Combined Oxidative Phosphorylation Deficiency 52	19
1766	c	INF081	Inflammatory Bowel Disease 22	19
1767		OKT001	Okt4 Epitope Deficiency	19
1768	P	RDC010	Reducing Body Myopathy	19
1769	c	SPS246	Spastic Paraplegia 87, Autosomal Recessive	19
1770	c	LDD009	Liddle Syndrome 3	19
1771		ALP072	Alpha-Fetoprotein Deficiency	19
1772		MCR369	Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum	19
1773	c	ART175	Arthrogryposis, Distal, Type 11	19
1774	c	MCR391	Microcephaly 29, Primary, Autosomal Recessive	19
1775	c	CLR141	Ciliary Dyskinesia, Primary, 41	19
1776		NRD143	Neurodevelopmental Disorder with Hypotonia and Gross Motor and Speech Delay	19
1777	c	ANG076	Angioedema, Hereditary, 8	19
1778	c	LFT011	Left Ventricular Noncompaction 2	19
1779	c	TTH026	Tooth Agenesis, Selective, 7	19
1780	c	PRM348	Premature Ovarian Failure 17	19
1781		AML058	Amelogenesis Imperfecta, Hypomaturation Type, Iia6	19
1782		MYP170	Myopathy, Congenital, Nonprogressive	19
1783		GLT036	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to	19
1784	c	PLY178	Polydactyly, Postaxial, Type A8	19
1785	c	EPL260	Epilepsy, Idiopathic Generalized 18	19
1786	c	ANM079	Anemia, Sideroblastic, 5	19
1787	c	MRR015	Mirror Movements 4	19
1788	c	UNC019	Uncombable Hair Syndrome 2	19
1789	c	DMN050	Diamond-Blackfan Anemia 21	19
1790		VRT018	Vertebral Hypersegmentation and Orofacial Anomalies	19
1791	c	OVR118	Ovarian Dysgenesis 6	18
1792		XLN191	X-Linked Hereditary Ataxia	18
1793	c	DMN048	Diamond-Blackfan Anemia 19	18
1794	c	PRG093	Pregnancy Loss, Recurrent 3	18
1795	c	TTH027	Tooth Agenesis, Selective, 8	18
1796	c	CRN174	Coronary Heart Disease 2	18
1797		AML039	Amelogenesis Imperfecta, Hypomaturation Type, Iia4	18
1798	c	CRY039	Carey-Fineman-Ziter Syndrome 2	18
1799		MTH068	Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect	18
1800	c	NNS071	Nonsyndromic Congenital Nail Disorder	18
1801		MTC218	Mitochondrial Complex Iv Deficiency, Nuclear Type 10	18
1802	c	OCY006	Oocyte Maturation Defect 5	18
1803		FCL086	Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction	18
1804	P	HYP284	Hypospadias 1, X-Linked	18
1805		CMB106	Combined Oxidative Phosphorylation Deficiency 50	18
1806	c	SCK050	Sick Sinus Syndrome 4	18
1807		BRB005	Birbeck Granule Deficiency	18
1808		IFP003	Ifap Syndrome 2	18
1809	c	KRT040	Keratoconus 3	18
1810	c	MTH069	Methylmalonic Acidemia Due to Transcobalamin Receptor Defect	18
1811		STR099	Striatonigral Degeneration, Infantile, Mitochondrial	18
1812	c	CNG385	Congenital Heart Defects, Multiple Types, 3	18
1813	c	SRC024	Sarcoidosis 3	18
1814		MYT001	Myotonic Cataract	18
1815	c	OCY007	Oocyte Maturation Defect 6	18
1816	c	SPS248	Spastic Paraplegia 88, Autosomal Dominant	18
1817		ARS003	Aarskog Syndrome, Autosomal Dominant	18
1818	c	PLY184	Polydactyly, Postaxial, Type A10	18
1819	c	MCR386	Microcephaly 28, Primary, Autosomal Recessive	18
1820	c	KRT050	Keratoconus 5	18
1821	c	CRN178	Coronary Heart Disease 6	18
1822	c	CRD263	Cardiac Valvular Dysplasia 2	18
1823		TRP029	Triphalangeal Thumb with Polysyndactyly	18
1824	c	LPR017	Leprosy 5	18
1825	c	ATS371	Autism 6	18
1826	c	OVR128	Ovarian Dysgenesis 10	18
1827		CRN210	Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome	18
1828		ATM059	Autoimmune Disease 6	18
1829	c	SYS065	Systemic Lupus Erythematosus 11	18
1830	c	NNS073	Non-Syndromic X-Linked Intellectual Disability 2	18
1831		OCL077	Oculopharyngeal Myopathy with Leukoencephalopathy 1	18
1832	c	DPH025	Diaphragmatic Hernia 2	18
1833	c	HYD068	Hydatidiform Mole, Recurrent, 4	18
1834	c	SPS229	Spastic Ataxia 8	18
1835	c	TTH025	Tooth Agenesis, Selective, 9	18
1836	c	PRM344	Premature Ovarian Failure 16	18
1837	c	KRT053	Keratoconus 7	18
1838	c	MCR385	Microcephaly, Epilepsy, and Diabetes Syndrome 2	17
1839		MTC221	Mitochondrial Complex Iv Deficiency, Nuclear Type 14	17
1840	c	TYP037	Type 1 Diabetes Mellitus 13	17
1841	c	NNS019	Nonsyndromic Holoprosencephaly	17
1842		CHR494	Chromosome 15q25 Deletion Syndrome	17
1843	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	17
1844	c	ANG075	Angioedema, Hereditary, 7	17
1845		CRB229	Cerebellar Dysfunction, Impaired Intellectual Development, and Hypogonadotropic Hypogonadism	17
1846	c	PRK084	Porokeratosis 6, Multiple Types	17
1847	c	KRT052	Keratoconus 6	17
1848	c	SYN040	Synpolydactyly 3	17
1849	c	ORF031	Orofacial Cleft 14	17
1850	c	PLY101	Polydactyly, Postaxial, Type A6	17
1851	c	PRG096	Pregnancy Loss, Recurrent 2	17
1852		LKN031	Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome	17
1853	c	INF091	Inflammatory Bowel Disease 8	17
1854	c	INF084	Inflammatory Bowel Disease 26	17
1855	c	EPL208	Epilepsy, Idiopathic Generalized 8	17
1856		MTC225	Mitochondrial Complex Iv Deficiency, Nuclear Type 18	17
1857		CHR503	Chromosome 22q13 Duplication Syndrome	17
1858	c	OCY008	Oocyte Maturation Defect 7	17
1859		SKL035	Skeletal Defects, Genital Hypoplasia, and Impaired Intellectual Development	17
1860	c	CNG621	Congenital Myasthenic Syndrome 7	17
1861	c	HYP863	Hyper Ige Recurrent Infection Syndrome 4	17
1862	c	PRT254	Proteasome-Associated Autoinflammatory Syndrome 5	17
1863	c	SPS162	Spastic Ataxia 1	17
1864	c	ANM081	Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	17
1865	c	RTN208	Retinopathy, Pericentral Pigmentary, Autosomal Recessive	17
1866	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	17
1867	c	AML056	Amelogenesis Imperfecta, Type Iiib	17
1868		CMP081	Camptosynpolydactyly, Complex	17
1869	c	CRN177	Coronary Heart Disease 7	17
1870		SDD010	Sudden Cardiac Failure, Alcohol-Induced	17
1871	c	DYS125	Dyslexia 8	17
1872	c	ERL044	Early-Onset Posterior Polar Cataract	16
1873		MCC013	Mucocutaneous Ulceration, Chronic	16
1874	c	CNG433	Congenital Cornea Plana	16
1875	c	PLY182	Polydactyly, Postaxial, Type A9	16
1876	c	KLP012	Klippel-Feil Syndrome 1	16
1877	c	NNS086	Non-Syndromic X-Linked Intellectual Disability 91	16
1878	c	PRK022	Parkinson Disease 12	16
1879	c	UNC018	Uncombable Hair Syndrome 3	16
1880	c	OCY013	Oocyte Maturation Defect 12	16
1881		EXR006	Exercise Intolerance, Riboflavin-Responsive	16
1882		FRG019	Ferguson-Bonni Neurodevelopmental Syndrome	16
1883		CMB102	Combined Oxidative Phosphorylation Deficiency 46	16
1884	c	OCY010	Oocyte Maturation Defect 9	16
1885	c	OCY009	Oocyte Maturation Defect 8	16
1886		TRN072	Transferrin Serum Level Quantitative Trait Locus 2	16
1887		CMB105	Combined Oxidative Phosphorylation Deficiency 49	16
1888	c	ATS170	Autism 19	16
1889	c	CTC003	Catecholaminergic Polymorphic Ventricular Tachycardia 5	16
1890	c	HYP270	Hypospadias 2, X-Linked	16
1891	c	PRT113	Parietal Foramina 3	16
1892	c	EPL090	Epilepsy, Idiopathic Generalized 5	16
1893	c	ATS372	Autism 7	16
1894	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	16
1895		THY115	Thyroxine-Binding Globulin Quantitative Trait Locus	16
1896	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	16
1897	P	BRD055	Braddock-Carey Syndrome 1	16
1898		URD003	Uridine-Cytidineuria	16
1899	c	CRN172	Coronary Heart Disease 3	16
1900		CHR365	Chromosome 2q31.1 Duplication Syndrome	15
1901	c	ATS374	Autism 12	15
1902	c	MRR012	Mirror Movements 3	15
1903	c	HYP551	Hypotrichosis 9	15
1904	c	KRT054	Keratoconus 8	15
1905	c	KRT039	Keratoconus 2	15
1906		DYS218	Dystonia, Early-Onset, and/or Spastic Paraplegia	15
1907	c	HYP544	Hypotrichosis 10	15
1908	c	ORF029	Orofacial Cleft 13	15
1909	c	OCY011	Oocyte Maturation Defect 10	15
1910	c	LPR016	Leprosy 4	15
1911	c	AML063	Amelogenesis Imperfecta Type 2a1	15
1912	c	ATS171	Autism 9	15
1913	c	ATS172	Autism 10	15
1914		SPN406	Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies	15
1915	c	ADL100	Adult-Onset Severe Asthma	15
1916		MTC149	Mitochondrial Complex I Deficiency, Mitochondrial Type 1	15
1917	c	BCT019	Bacteremia 1	15
1918	c	KLP015	Klippel-Feil Syndrome 4	15
1919		RHZ017	Rhizomelic Dysplasia, Ain-Naz Type	15
1920	c	INF136	Influenza, Severe	14
1921		HYP668	Hypospadias-Intellectual Disability, Goldblatt Type Syndrome	14
1922	c	AST057	Asthma-Related Traits 5	14
1923	c	ATS373	Autism 11	14
1924	c	MTH084	Methemoglobinemia, Alpha Type	14
1925	c	ACQ036	Acquired Angioedema Type 2	14
1926	c	ATS375	Autism 13	14
1927	c	CRN175	Coronary Heart Disease 4	14
1928	P	TRS005	Torsion Dystonia with Onset in Infancy	14
1929	c	MCR284	Microcephaly and Chorioretinopathy 3	14
1930	c	GLL043	Galloway-Mowat Syndrome 2	14
1931	c	BRD056	Braddock-Carey Syndrome 2	14
1932	c	ATT025	Attention Deficit-Hyperactivity Disorder 8	14
1933		INC030	Increased Analgesia from Kappa-Opioid Receptor Agonist, Female-Specific	14
1934	c	ART171	Arthrogryposis Multiplex Congenita-3	14
1935	c	PRK095	Porokeratosis 4, Disseminated Superficial Actinic Type	14
1936	c	OCY012	Oocyte Maturation Defect 11	14
1937	P	FRS017	Fraser-Like Syndrome	14
1938	c	CRN173	Coronary Heart Disease 8	14
1939	c	URC015	Uric Acid Concentration, Serum, Quantitative Trait Locus 4	14
1940	c	ATM056	Autoimmune Thyroid Disease 1	14
1941	P	CLD004	Cold-Induced Sweating Syndrome Including Crisponi Syndrome	14
1942	c	ORF020	Orofacial Cleft 12	14
1943	c	HTR012	Heterotaxy, Visceral, 3, Autosomal	14
1944	c	NNS085	Non-Syndromic X-Linked Intellectual Disability 90	13
1945	c	NNS076	Non-Syndromic X-Linked Intellectual Disability 58	13
1946	c	KRT041	Keratoconus 4	13
1947	c	RRC022	Rare Chromosomal Anomaly	13
1948	c	NNS094	Non-Syndromic X-Linked Intellectual Disability 72	13
1949	c	CRN176	Coronary Heart Disease 9	13
1950	c	DVL148	Developmental and Epileptic Encephalopathy 108	13
1951	c	ART170	Arthrogryposis Multiplex Congenita-1	13
1952	c	MCR185	Macrodactyly of Toes	13
1953	c	NNP008	Nanophthalmos 3	13
1954	c	HYD042	Hydrocephalus, Autosomal Dominant	13
1955		EPL262	Epilepsy, X-Linked 2, with or Without Impaired Intellectual Development and Dysmorphic Features	13
1956	c	ORF024	Orofacial Cleft 9	13
1957	c	TTH011	Tooth Agenesis, Selective, 2	13
1958	c	PRK097	Porokeratosis 5, Disseminated Superficial Actinic Type	13
1959	c	SYN050	Syndactyly Type 6	13
1960		GLC077	Glucocorticoid Therapy, Response to	13
1961	c	AML067	Amelogenesis Imperfecta, Type Ik	13
1962	c	DWL005	Dowling-Degos Disease 3	13
1963		PLS035	Plasma Triglyceride Level Quantitative Trait Locus	13
1964		HRD193	Hereditary Alpha Tryptasemia Syndrome	13
1965	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	13
1966	c	DYS122	Dyslexia 3	13
1967		GLY102	Glycerol Quantitative Trait Locus	13
1968	P	HGH038	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6	13
1969	c	INT382	Intermediate Atrioventricular Septal Defect	12
1970	c	VPS003	Vps35-Related Parkinson Disease	12
1971	c	CNG253	Congenital Communicating Hydrocephalus	12
1972	P	FST017	Fasting Plasma Glucose Level Quantitative Trait Locus 5	12
1973	c	THY119	Thyrotoxic Periodic Paralysis 3	12
1974	c	MYM005	Moyamoya Disease 3	12
1975	c	ATM057	Autoimmune Thyroid Disease 2	12
1976	c	ART172	Arthrogryposis Multiplex Congenita-4	12
1977	c	VNB003	Van Buchem Disease Type 2	12
1978	c	FST012	Fasting Plasma Glucose Level Quantitative Trait Locus 1	11
1979	c	EPB003	Epb42-Related Hereditary Spherocytosis	11
1980	c	GRN068	Grin2d-Related Developmental and Epileptic Encephalopathy	11
1981	c	TTH017	Tooth Agenesis, Selective, 5	11
1982		BTG003	Beta-Glucopyranoside Tasting	11
1983		C3H001	C3hex, Ability to Smell	11
1984	P	LWD006	Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6	11
1985	P	HYP772	Hypermetabolism Due to Defect in Mitochondria	11
1986	c	NNS081	Non-Syndromic X-Linked Intellectual Disability 81	11
1987	c	GLM038	Glioma Susceptibility 7	11
1988	c	BNG034	Benign Secondary Hypertension	11
1989	c	DYS124	Dyslexia 6	11
1990	c	HGH039	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 12	11
1991	c	HRM022	Hair Morphology 1	11
1992		LTH044	Lutheran Null	11
1993	c	KLP013	Klippel-Feil Syndrome 3	11
1994	c	DVL151	Developmental and Epileptic Encephalopathy 110	11
1995	c	HYP447	Hypertension, Essential 1	11
1996	c	DYS225	Dyskeratosis Congenita, Autosomal Recessive 8	11
1997		CHR384	Chromosome 2p12-P11.2 Deletion Syndrome	11
1998	c	HYP452	Hypertension, Essential 6	11
1999	c	HYP449	Hypertension, Essential 3	11
2000	c	LWD007	Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7	11
2001	c	ATM058	Autoimmune Thyroid Disease 4	11
2002	c	DYS222	Dystonia 35, Childhood-Onset	11
2003	c	PRC032	Preeclampsia/eclampsia 2	11
2004	c	HYP869	Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor	10
2005		CRN326	Corneal Dystrophy, Punctiform and Polychromatic Pre-Descemet	10
2006		RCM006	Recombination Rate Quantitative Trait Locus 1	10
2007	c	DYS123	Dyslexia 5	10
2008	c	DVL150	Developmental and Epileptic Encephalopathy 109	10
2009	c	FNC067	Fanconi Renotubular Syndrome 4	10
2010	c	ATS423	Autosomal Dominant Wolfram Syndrome	10
2011	c	HYP448	Hypertension, Essential 2	10
2012	c	HYP450	Hypertension, Essential 4	10
2013		FCS013	Fucosyltransferase 6 Deficiency	10
2014	c	PRC033	Preeclampsia/eclampsia 3	10
2015		ECL002	Eculizumab, Poor Response to	10
2016		SDM005	Sodium Serum Level Quantitative Trait Locus 1	10
2017	c	DYS126	Dyslexia 9	10
2018		MMR005	Memory Quantitative Trait Locus	10
2019	c	RRN022	Rare Inflammatory Bowel Disease	10
2020	c	MSC205	Mosaic Variegated Aneuploidy Syndrome 4	10
2021	c	NNS074	Non-Syndromic X-Linked Intellectual Disability 19	9
2022	c	HYP451	Hypertension, Essential 5	9
2023	P	HRN027	Hernia, Anterior Diaphragmatic	9
2024	c	RRD039	Rare Dystonia	9
2025	c	ISC021	Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome	9
2026	c	HGH033	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 1	9
2027	c	HYP454	Hypertension, Essential 8	9
2028	c	HYP453	Hypertension, Essential 7	9
2029	c	ATS437	Autosomal Dominant Spastic Ataxia	9
2030	P	MCR048	Microcephaly Chorioretinopathy Recessive Form	9
2031	c	CNG628	Congenital Disorder of Glycosylation Iw	9
2032	c	FST013	Fasting Plasma Glucose Level Quantitative Trait Locus 2	9
2033		SLB002	Soluble Interleukin-6 Receptor, Serum Level of, Quantitative Trait Locus	8
2034		INT325	Interleukin 6, Serum Level of, Quantitative Trait Locus	8
2035	c	ACQ035	Acquired Angioedema Type 1	8
2036	c	LWD008	Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8	8
2037	P	RRT025	Rare Thyroid Disease	8
2038		ASP035	Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1	8
2039	c	FST015	Fasting Plasma Glucose Level Quantitative Trait Locus 6	8
2040	c	HGH035	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 3	8
2041		MYP171	Myopathy with Myalgia, Increased Serum Creatine Kinase, and with or Without Episodic Rhabdomyolysis	8
2042	P	ATS499	Autosomal Dominant Familial Visceral Neuropathy	8
2043		IMP012	Impdh2 Enzyme Activity, Variation in	8
2044	c	HYP894	Hypermetabolism Due to Uncoupled Mitochondrial Oxidative Phosphorylation 2	8
2045		MTC238	Mitochondrial Complex I Deficiency, Nuclear Type 39	8
2046	c	FST014	Fasting Plasma Glucose Level Quantitative Trait Locus 3	8
2047	c	HGH032	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 14	7
2048	c	HYP653	Hypospadias 4, X-Linked	7
2049	c	ADP009	Adiponectin, Serum Level of, Quantitative Trait Locus 3	7
2050	c	ADP008	Adiponectin, Serum Level of, Quantitative Trait Locus 2	7
2051	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	7
2052	c	FST016	Fasting Plasma Glucose Level Quantitative Trait Locus 4	7
2053	c	LSS018	Lissencephaly with Cerebellar Hypoplasia Type F	7
2054	c	LSS019	Lissencephaly with Cerebellar Hypoplasia Type E	7
2055	c	LSS021	Lissencephaly with Cerebellar Hypoplasia Type a	7
2056	c	RRD010	Rare Disease with Autism	7
2057	c	HGH042	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7	7
2058	c	ADP011	Adiponectin, Serum Level of, Quantitative Trait Locus 4	7
2059	P	DSR041	Disorder of Multiple Glycosylation	6
2060	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	6
2061		MTC239	Mitochondrial Complex Iii Deficiency, Nuclear Type 11	6
2062	c	ADP012	Adiponectin, Serum Level of, Quantitative Trait Locus 5	6
2063		CMB116	Combined Oxidative Phosphorylation Deficiency 56	6
2064	c	HYP861	Hyper Ige Recurrent Infection Syndrome 2	6
2065	c	AGM030	Agammaglobulinemia 8a	6
2066	c	NNS079	Non-Syndromic X-Linked Intellectual Disability 84	6
2067	c	LSS023	Lissencephaly with Cerebellar Hypoplasia Type C	6
2068	c	ACQ064	Acquired Premature Ovarian Failure	6
2069	c	LSS022	Lissencephaly with Cerebellar Hypoplasia Type D	6
2070	c	NNS091	Non-Syndromic X-Linked Intellectual Disability 88	6
2071	c	LSS020	Lissencephaly with Cerebellar Hypoplasia Type B	6
2072	c	PRX100	Proximal Symphalangism 2	6
2073	c	GRD008	Grid2-Related Spinocerebellar Ataxia	6
2074	c	URC017	Uric Acid Concentration, Serum, Quantitative Trait Locus 6	6
2075	c	URC016	Uric Acid Concentration, Serum, Quantitative Trait Locus 5	6
2076	c	HGH036	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 4	6
2077	c	TRM030	Trim22-Related Inflammatory Bowel Disease	5
2078	c	SPS172	Spastic Ataxia 7	5
2079	c	PRX099	Proximal Symphalangism 1	5
2080	c	HGH034	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 2	5
2081	c	HGH037	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 5	5
2082	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	5
2083		MTH002	Methylmalonic Aciduria and Homocystinuria Type Cblg	4
2084	c	RDC017	Reducing Body Myopathy 1a	4
2085	c	RDC018	Reducing Body Myopathy 1b	4
2086	c	ALP111	Alpi-Related Inflammatory Bowel Disease	4
2087	c	XND001	X and Y Chromosomal Anomaly	4
2088	c	CRN093	Craniosynostosis Autosomal Dominant	4
2089		CHR705	Chromosome 16p12.1 Deletion Syndrome	4
2090	c	CLR027	Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules	3
2091	c	HYD017	Hydrocephalus Autosomal Recessive	3
2092	c	MCR059	Microcephaly with Chorioretinopathy, Autosomal Dominant Form	3
2093		ATS478	Autosomal Recessive Congenital Bilateral Absence of Vas Deferens	3
2094		ADN058	Adenylosuccinase Lyase Deficiency	3
2095		RHZ020	Rhizomelic Chondrodysplasia Punctate Type 4	2
2096		INT304	Interstitial Pneumonitis, Desquamative, Familial	45
2097		OST150	Osteodysplasia, Familial, Anderson Type	19
2098		DYS182	Dysphasia, Familial Developmental	38
2099	P	PGT001	Paget's Disease of Bone	59
2100		SCH072	Scheuermann Disease	45
2101	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	45
2102	c	EXD010	Exudative Vitreoretinopathy 6	29
2103		FML211	Familial Papillary or Follicular Thyroid Carcinoma	27
2104	P	FML048	Familial Avascular Necrosis of the Femoral Head	26
2105	c	EXD007	Exudative Vitreoretinopathy 3	25
2106	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	19
2107		ADR047	Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone	16
2108	P	OVR042	Ovarian Cancer	89
2109		ATY005	Atypical Teratoid Rhabdoid Tumor	66
2110	c	OVR114	Ovarian Cancer 1	65
2111		FML063	Familial Glucocorticoid Deficiency	57
2112	c	FML353	Familial Ovarian Cancer	40
2113		THM023	Thiemann Disease	24
2114	c	CRD057	Cardiomyopathy, Familial Restrictive, 2	20
2115		RNX001	Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies	15
2116		DSM004	Desmoid Tumor	67
2117	c	CRD152	Cardiomyopathy, Familial Hypertrophic, 21	18
2118		ANR042	Aniridia - Ptosis - Intellectual Disability - Familial Obesity	16
2119		THR043	Thrombomodulin Anomalies, Familial	8
2120	P	MLN008	Melanoma	74
2121		VLV047	Volvulus of Midgut	59
2122	P	MLT074	Multiple Endocrine Neoplasia	57
2123		HRT015	Heritable Pulmonary Arterial Hypertension	45
2124	P	PLN008	Peeling Skin Syndrome	43
2125	c	HRD223	Hereditary Melanoma	37
2126		FML304	Familial Isolated Dilated Cardiomyopathy	35
2127		HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	17
2128	P	KDN018	Kidney Disease	75
2129	c	CHR684	Chronic Kidney Disease	74
2130	c	ACT071	Acute Kidney Failure	61
2131		PMP006	Pemphigus Vulgaris, Familial	59
2132		IGG007	Igg4-Related Disease	50
2133		GST095	Gastritis, Familial Giant Hypertrophic	45
2134	P	RNL015	Renal Hypertension	43
2135		GNT179	Genetic Steroid-Resistant Nephrotic Syndrome	41
2136	P	BLN001	Blount's Disease	38
2137	c	RNL113	Renal Failure, Progressive, with Hypertension	32
2138		NCH001	Nuchal Bleb, Familial	31
2139		FML293	Familial Isolated Restrictive Cardiomyopathy	28
2140		BLD065	Blue Diaper Syndrome	24
2141	c	RNL016	Renal Infectious Disease	21
2142		CHR673	Chromosome 14q32 Duplication Syndrome, 700-Kb	19
2143		APM002	Aapoai Amyloidosis	18
2144		MCR337	Microtia with Meatal Atresia and Conductive Deafness	17
2145		APM001	Aapoaii Amyloidosis	17
2146	c	BLN020	Blount Disease, Infantile	17
2147		HYP692	Hypersensitivity Pneumonitis, Familial	15
2148	c	RNR002	Ren-Related Kidney Disease	7
2149	c	ART144	Arthrogryposis, Distal, Type 1a	65
2150	P	DST002	Distal Arthrogryposis	61
2151	c	ART061	Arthrogryposis, Distal, Type 2a	60
2152	c	ART119	Arthrogryposis, Distal, Type 5	53
2153	c	ART147	Arthrogryposis, Distal, Type 7	48
2154	c	ART104	Arthrogryposis, Distal, Type 5d	43
2155	c	ART112	Arthrogryposis, Distal, Type 10	37
2156	c	ART168	Arthrogryposis, Distal, Type 1c	35
2157		ACT164	Actinic Prurigo	28
2158	c	ART128	Arthrogryposis, Distal, Type 6	27
2159	c	ART131	Arthrogryposis, Distal, Type 4	27
2160		FBR088	Fibromatosis, Gingival, with Progressive Deafness	25
2161	c	ART054	Arthrogryposis, Distal, Type 2e	18
2162		PRL009	Prolactinoma	63
2163	P	HRD021	Hereditary Sensory Neuropathy	54
2164	c	NRP041	Neuropathy, Hereditary Sensory, Type Ie	54
2165	P	RST002	Restrictive Cardiomyopathy	53
2166		FLT011	Felty Syndrome	53
2167	c	NRP029	Neuropathy, Hereditary Sensory, Type Iic	42
2168	c	NRP039	Neuropathy, Hereditary Sensory, Type Id	41
2169		CHR525	Chromosome Xq26.3 Duplication Syndrome	36
2170		FML292	Familial Drusen	33
2171	c	NRP036	Neuropathy, Hereditary Sensory, Type if	29
2172	c	PRS117	Prostate Cancer, Hereditary, 11	24
2173	P	PRM145	Primary Anetoderma	17
2174		ZRS001	Zori Stalker Williams Syndrome	17
2175	P	PRM375	Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis	16
2176		STR032	Steroid Dehydrogenase Deficiency Dental Anomalies	16
2177	c	FML327	Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis	15
2178	c	SPT021	Sptlc1-Related Hereditary Sensory Neuropathy	15
2179	c	FML205	Familial Anetoderma	14
2180	P	FML354	Familial Nonmedullary Thyroid Carcinoma	14
2181		ADL092	Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome	4
2182	c	THR092	Thrombophilia Due to Thrombin Defect	76
2183	P	HYP061	Hypertrophic Cardiomyopathy	69
2184		PRM236	Primary Biliary Cholangitis	62
2185	c	HYD046	Hydatidiform Mole, Recurrent, 1	60
2186		BNG009	Benign Epilepsy with Centrotemporal Spikes	59
2187		CLL010	Cellular Ependymoma	59
2188	P	HMP002	Hemophagocytic Lymphohistiocytosis	59
2189	c	THR082	Thrombophilia Due to Activated Protein C Resistance	59
2190	P	ERY008	Erythromelalgia	58
2191	P	ISL078	Isolated Ectopia Lentis	58
2192		MCL027	Macular Dystrophy, Dominant Cystoid	56
2193	P	ALL008	Allergic Bronchopulmonary Aspergillosis	55
2194	P	DRM007	Dermatitis Herpetiformis	55
2195	P	DST107	Distal Renal Tubular Acidosis	55
2196		DNB001	Danubian Endemic Familial Nephropathy	53
2197	P	PRV002	Periventricular Nodular Heterotopia	52
2198	P	THR015	Thrombophilia	52
2199		DDN011	Duodenal Atresia	51
2200		ARC002	Arachnoiditis	51
2201		CMB062	Combined Pituitary Hormone Deficiencies, Genetic Forms	51
2202	c	DFN097	Deafness, Autosomal Recessive 1a	51
2203	c	JVN041	Juvenile Nephronophthisis	49
2204	c	DFN250	Deafness, Autosomal Recessive 2	48
2205	c	DFN133	Deafness, Autosomal Recessive 9	48
2206	c	DFN141	Deafness, Autosomal Recessive 12	47
2207	c	DFN136	Deafness, Autosomal Dominant 9	46
2208	c	DFN251	Deafness, Autosomal Dominant 11	46
2209	c	DFN196	Deafness, Autosomal Dominant 22	45
2210	c	DFN200	Deafness, Autosomal Dominant 17	44
2211	P	DPY001	Dupuytren Contracture	44
2212	c	DFN197	Deafness, Autosomal Recessive 37	43
2213	c	DFN247	Deafness, Autosomal Recessive 18a	42
2214	c	DFN128	Deafness, Autosomal Dominant 36	42
2215	c	DFN093	Deafness, Autosomal Recessive 23	42
2216	c	DFN189	Deafness, Autosomal Dominant 25	42
2217	c	DFN103	Deafness, Autosomal Recessive 1b	41
2218	c	DFN139	Deafness, Autosomal Recessive 29	41
2219	c	DFN203	Deafness, Autosomal Recessive 30	41
2220	c	DFN112	Deafness, Autosomal Recessive 63	41
2221	c	DFN107	Deafness, Autosomal Dominant 10	40
2222	c	DFN143	Deafness, Autosomal Recessive 16	39
2223	c	DFN130	Deafness, Autosomal Recessive 21	39
2224	c	DFN352	Deafness, Autosomal Recessive 8	39
2225	c	DFN092	Deafness, Autosomal Recessive 49	39
2226	c	DFN267	Deafness, Autosomal Dominant 4a	39
2227	c	DFN252	Deafness, Autosomal Recessive 24	39
2228		WST002	Western Equine Encephalitis	39
2229	c	DFN098	Deafness, Autosomal Dominant 3a	39
2230	c	DFN353	Deafness, Autosomal Dominant 12	39
2231	c	DFN170	Deafness, Autosomal Recessive 31	38
2232	c	DFN127	Deafness, Autosomal Recessive 7	38
2233	c	DFN124	Deafness, Autosomal Recessive 6	38
2234	c	DFN262	Deafness, Autosomal Recessive 15	38
2235	c	DFN351	Deafness, Autosomal Dominant 6	38
2236	c	DFN201	Deafness, Autosomal Recessive 3	38
2237	c	DFN102	Deafness, Autosomal Dominant 3b	38
2238		JJN004	Jejunal Atresia	38
2239	c	DFN114	Deafness, Autosomal Recessive 67	38
2240	c	DFN190	Deafness, Autosomal Dominant 2a	38
2241	c	DFN108	Deafness, Autosomal Recessive 77	38
2242	c	DFN111	Deafness, Autosomal Recessive 35	38
2243	c	DFN117	Deafness, Autosomal Dominant 15	37
2244	c	DFN181	Deafness, Autosomal Recessive 66	37
2245	c	DFN278	Deafness, Autosomal Dominant 65	37
2246	c	ATS006	Autosomal Recessive Nonsyndromic Deafness	37
2247	c	RNL125	Renal Tubular Acidosis, Distal, 1	37
2248	c	DFN259	Deafness, Autosomal Recessive 86	37
2249	P	ATR081	Atrial Standstill	37
2250	c	DFN274	Deafness, Autosomal Dominant 56	36
2251	c	DFN244	Deafness, Autosomal Recessive 42	36
2252	c	DFN202	Deafness, Autosomal Dominant 48	36
2253	c	DFN364	Deafness, Autosomal Recessive 57	36
2254	c	DFN159	Deafness, Autosomal Dominant 5	36
2255	c	DFN269	Deafness, Autosomal Recessive 98	36
2256	c	DFN095	Deafness, Autosomal Recessive 25	35
2257	c	DFN123	Deafness, Autosomal Recessive 79	35
2258	c	DFN354	Deafness, Autosomal Dominant 20	35
2259	c	DFN155	Deafness, Autosomal Dominant 41	34
2260	c	DFN360	Deafness, Autosomal Dominant 69	34
2261	c	DFN277	Deafness, Autosomal Recessive 102	33
2262	c	DFN266	Deafness, Autosomal Dominant 4b	33
2263	c	DFN120	Deafness, Autosomal Recessive 39	33
2264	c	DFN249	Deafness, Autosomal Recessive 93	33
2265	c	DFN132	Deafness, Autosomal Recessive 22	33
2266	c	DFN137	Deafness, Autosomal Dominant 13	33
2267	c	DFN280	Deafness, Autosomal Recessive	33
2268	c	DFN253	Deafness, Autosomal Recessive 84a	33
2269	c	DFN260	Deafness, Autosomal Recessive 89	33
2270	c	DFN375	Deafness, Autosomal Recessive 94	32
2271	c	DFN121	Deafness, Autosomal Recessive 28	32
2272	c	FML311	Familial Colorectal Cancer Type X	32
2273	c	DFN330	Deafness, Autosomal Recessive 97	32
2274	c	DFN248	Deafness, Autosomal Recessive 18b	32
2275	c	DFN188	Deafness, Autosomal Recessive 61	32
2276	c	DFN178	Deafness, Autosomal Recessive 59	31
2277	c	DFN367	Deafness, Autosomal Recessive 110	31
2278	c	DFN284	Deafness, Autosomal Dominant 67	31
2279		PPL052	Papillomatosis, Confluent and Reticulated	31
2280	c	DFN255	Deafness, Autosomal Dominant 64	31
2281	c	ATS336	Autosomal Recessive Nonsyndromic Deafness 3	31
2282		IDP092	Idiopathic/heritable Pulmonary Arterial Hypertension	31
2283	c	DFN254	Deafness, Autosomal Recessive 84b	31
2284	c	DFN094	Deafness, Autosomal Dominant 28	31
2285	c	DFN327	Deafness, Autosomal Dominant 70	30
2286	c	DFN265	Deafness, Autosomal Recessive 76	30
2287		PRR031	Pruritic Urticarial Papules and Plaques of Pregnancy	30
2288	c	DFN283	Deafness, Autosomal Recessive 104	30
2289	c	DFN135	Deafness, Autosomal Recessive 91	30
2290	c	DFN281	Deafness, Autosomal Recessive 103	30
2291	c	DFN148	Deafness, Autosomal Dominant 16	29
2292	c	DFN150	Deafness, Autosomal Dominant 21	29
2293	c	DFN192	Deafness, Autosomal Dominant 23	29
2294		ACR034	Acrogeria, Gottron Type	29
2295	c	DFN099	Deafness, Autosomal Dominant 2b	29
2296	c	DFN118	Deafness, Autosomal Dominant 44	29
2297	c	DFN336	Deafness, Autosomal Dominant 68	29
2298	c	DFN183	Deafness, Autosomal Recessive 83	29
2299	c	DFN374	Deafness, Autosomal Recessive 100	29
2300	c	DFN119	Deafness, Autosomal Dominant 50	29
2301	c	DFN273	Deafness, Autosomal Recessive 101	28
2302	c	DFN116	Deafness, Autosomal Recessive 74	27
2303	c	ATS005	Autosomal Dominant Nonsyndromic Deafness	27
2304	c	ATS380	Autosomal Recessive Nonsyndromic Deafness 36	27
2305	c	DFN246	Deafness, Autosomal Dominant 51	27
2306		WLL032	Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears	27
2307	c	ATS409	Autosomal Recessive Nonsyndromic Deafness 32	27
2308		PGM010	Pigmented Purpuric Eruption	27
2309	c	DFN369	Deafness, Autosomal Recessive 111	26
2310	c	DFN365	Deafness, Autosomal Recessive 109	26
2311		FXL001	Foix-Alajouanine Syndrome	26
2312	c	JVN011	Juvenile Dermatitis Herpetiformis	26
2313	c	THR023	Thrombophilia Due to Thrombomodulin Defect	26
2314	c	DFN152	Deafness, Autosomal Dominant 27	26
2315	c	DFN257	Deafness, Autosomal Dominant 33	26
2316		NRF026	Neurofibromatosis, Type Iv, of Riccardi	26
2317	c	DFN030	Deafness, Autosomal Recessive 55	25
2318	c	OTF001	Otof-Related Deafness	25
2319	c	DFN173	Deafness, Autosomal Recessive 40	25
2320	c	DFN271	Deafness, Autosomal Dominant 58	25
2321	c	DFN162	Deafness, Autosomal Dominant 59	24
2322	c	DFN169	Deafness, Autosomal Recessive 27	24
2323	c	ATS528	Autosomal Recessive Nonsyndromic Deafness 70	24
2324	c	DFN258	Deafness, Autosomal Recessive 48	24
2325	c	DFN240	Deafness, Autosomal Recessive 96	24
2326	c	DFN138	Deafness, Autosomal Recessive 53	24
2327	c	DFN378	Deafness, Autosomal Recessive 99	24
2328		MSC132	Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism	24
2329	c	DFN179	Deafness, Autosomal Recessive 62	24
2330	c	DFN149	Deafness, Autosomal Dominant 18	24
2331	c	DFN174	Deafness, Autosomal Recessive 44	23
2332	c	DFN184	Deafness, Autosomal Recessive 85	23
2333	c	DFN373	Deafness, Autosomal Recessive 113	23
2334	P	RCR026	Recurrent Hydatidiform Mole	23
2335	c	HYD041	Hydatidiform Mole, Recurrent, 2	23
2336	c	DFN166	Deafness, Autosomal Recessive 17	23
2337	c	DFN379	Deafness, Autosomal Dominant 37	22
2338	c	DFN134	Deafness, Autosomal Dominant 40	22
2339	c	SPR083	Sporadic Hemiplegic Migraine	22
2340	c	DFN160	Deafness, Autosomal Dominant 52	22
2341	c	DFN329	Deafness, Autosomal Dominant 66	22
2342		DFN306	Deafness, Conductive, with Malformed External Ear	21
2343	c	DFN168	Deafness, Autosomal Recessive 26	21
2344		PTR030	Pterygium of Conjunctiva and Cornea	21
2345	c	DFN151	Deafness, Autosomal Dominant 24	20
2346	c	DFN263	Deafness, Autosomal Recessive 68	20
2347	c	DFN395	Deafness, Autosomal Dominant 82	20
2348	c	DFN385	Deafness, Autosomal Dominant 78	20
2349	c	DFN335	Deafness, Autosomal Dominant 71	20
2350	c	DFN029	Deafness, Autosomal Recessive 51	20
2351	c	DFN390	Deafness, Autosomal Dominant 80	20
2352	c	DFN333	Deafness, Autosomal Dominant 73	20
2353	c	DFN382	Deafness, Autosomal Dominant 76	20
2354	c	DFN371	Deafness, Autosomal Recessive 112	19
2355	c	DFN171	Deafness, Autosomal Recessive 33	19
2356	c	DFN165	Deafness, Autosomal Recessive 14	19
2357	c	DFN361	Deafness, Autosomal Recessive 106	19
2358		ACN028	Acanthosis Nigricans with Muscle Cramps and Acral Enlargement	19
2359		CRD023	Cardiomyopathy Cataract Hip Spine Disease	19
2360	c	DFN377	Deafness, Autosomal Recessive 115	19
2361	c	DFN328	Deafness, Autosomal Dominant 72	19
2362	c	DFN164	Deafness, Autosomal Recessive 13	18
2363		SHR023	Short Stature Syndrome, Brussels Type	18
2364	c	DFN368	Deafness, Autosomal Dominant 74	18
2365	c	HYD067	Hydatidiform Mole, Recurrent, 3	18
2366	c	DFN167	Deafness, Autosomal Recessive 20	18
2367		HRT033	Heart-Hand Syndrome, Spanish Type	18
2368	c	DFN180	Deafness, Autosomal Recessive 65	18
2369		AFB003	Afib Amyloidosis	18
2370	c	DFN158	Deafness, Autosomal Dominant 49	18
2371	c	DFN325	Deafness, Autosomal Recessive 108	18
2372	c	DFN337	Deafness, Autosomal Recessive 107	18
2373		OST046	Osteopathia Striata with Pigmentary Dermopathy Including White Forelock	17
2374	c	DRM040	Dermatitis Herpetiformis, Familial	17
2375	c	ALL027	Allergic Bronchopulmonary Aspergillosis, Familial	17
2376	c	DFN243	Deafness, Autosomal Recessive 88	17
2377	c	DFN154	Deafness, Autosomal Dominant 31	17
2378	c	DFN394	Deafness, Autosomal Recessive 119	17
2379	c	DFN272	Deafness, Autosomal Dominant 54	17
2380	c	DFN161	Deafness, Autosomal Dominant 53	17
2381	c	DFN381	Deafness, Autosomal Dominant 75	17
2382	c	FML056	Familial Deafness	16
2383	c	DFN387	Deafness, Autosomal Recessive 116	16
2384	c	DFN177	Deafness, Autosomal Recessive 5	16
2385	c	DFN397	Deafness, Autosomal Dominant 84	16
2386	c	DFN376	Deafness, Autosomal Recessive 114	16
2387	c	DFN388	Deafness, Autosomal Recessive 117	16
2388	c	DFN156	Deafness, Autosomal Dominant 43	16
2389	c	DFN357	Deafness, Autosomal Recessive 47	16
2390	c	ATS490	Autosomal Dominant Nonsyndromic Deafness 77	16
2391	c	THR119	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	16
2392	c	DFN153	Deafness, Autosomal Dominant 30	16
2393	c	ATS484	Autosomal Dominant Nonsyndromic Deafness 78	16
2394	c	DFN383	Deafness, Autosomal Dominant 77	16
2395	c	DFN261	Deafness, Autosomal Recessive 46	16
2396	c	DFN386	Deafness, Autosomal Dominant 79	16
2397	c	HRD219	Hereditary Distal Renal Tubular Acidosis	16
2398	c	DFN396	Deafness, Autosomal Dominant 83	15
2399		BNK001	Banki Syndrome	15
2400	c	DFN157	Deafness, Autosomal Dominant 47	15
2401	c	DFN392	Deafness, Autosomal Dominant 81	15
2402	c	DFN172	Deafness, Autosomal Recessive 38	15
2403		CRN283	Cornea Guttata with Anterior Polar Cataracts	15
2404	c	DFN182	Deafness, Autosomal Recessive 71	14
2405	c	DFN175	Deafness, Autosomal Recessive 45	14
2406		ECT009	Ectopia Pupillae	14
2407	c	SCN066	Secondary Erythromelalgia	14
2408		ATR090	Atrophia Maculosa Varioliformis Cutis, Familial	14
2409	c	ATS487	Autosomal Dominant Nonsyndromic Deafness 74	13
2410		SBC022	Sebaceous Gland Hyperplasia, Familial Presenile	13
2411	P	RRD005	Rare Deafness	13
2412		GNT138	Genetic Intestinal Polyposis	13
2413	c	FML196	Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland	12
2414		DDX005	Ddx41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	11
2415		CLC061	Calcific Aortic Disease with Immunologic Abnormalities, Familial	11
2416		ATS492	Autosomal Dominant Tubulointerstitial Kidney Disease - Ren	11
2417		IMM016	Immune Deficiency, Familial Variable	11
2418		ADR055	Adrenocortical Unresponsiveness to Acth with Postreceptor Defect	11
2419		ANH005	Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands	11
2420		ERY007	Erythropoietin Polycythemia	9
2421		SPR121	Superior Transverse Scapular Ligament, Calcification of, Familial	9
2422	c	THR126	Thrombophilia Due to Decreased Release of Plat	8
2423		THR121	Thrombocythemia with Distal Limb Defects	8
2424		NPH025	Nephrotic Syndrome Ocular Anomalies	8
2425	c	RRH022	Rare Hereditary Thrombophilia	7
2426	P	NNF006	Non-Familial Dilated Cardiomyopathy	7
2427		DFN343	Deafness, Congenital, and Familial Myoclonic Epilepsy	6
2428	c	ATS488	Autosomal Dominant Nonsyndromic Deafness 75	6
2429	c	ATS489	Autosomal Dominant Nonsyndromic Deafness 76	6
2430	c	ATS485	Autosomal Dominant Nonsyndromic Deafness 79	6
2431	c	ATS486	Autosomal Recessive Nonsyndromic Deafness 116	6
2432		NNF005	Non-Familial Restrictive Cardiomyopathy	5
2433		PNC125	Pancreatic Lymphoma, Familial	5
2434		PRG135	Progressive Dementia with Neuroserpin Inclusion Bodies	5
2435		OST166	Osteoma of Cranial Vault, Familial	5
2436		FML368	Familial Hyperinflammatory Lymphoproliferative Immunodeficiency	5
2437	c	ATS399	Autosomal Dominant Nonsyndromic Deafness 71	5
2438	c	ATS402	Autosomal Dominant Nonsyndromic Deafness 34	5
2439	c	ATS400	Autosomal Dominant Nonsyndromic Deafness 72	5
2440	c	ATS396	Autosomal Recessive Nonsyndromic Deafness 106	5
2441	c	ATS397	Autosomal Recessive Nonsyndromic Deafness 107	5
2442	c	ATS398	Autosomal Recessive Nonsyndromic Deafness 108	5
2443	c	ATS401	Autosomal Dominant Nonsyndromic Deafness 73	5
2444		PRG136	Progressive Myoclonic Epilepsy with Neuroserpin Inclusion Bodies	4
2445	c	NNF010	Non-Familial Rare Disease with Dilated Cardiomyopathy	3
2446		STL002	Stalker Chitayat Syndrome	3
2447	P	LNG032	Lung Cancer	98
2448	c	SYS001	Systemic Lupus Erythematosus	87
2449	P	ART067	Aortic Aneurysm, Familial Thoracic 1	81
2450		STR067	Stroke, Ischemic	81
2451	c	ART115	Aortic Valve Disease 1	78
2452		PFF001	Pfeiffer Syndrome	77
2453	P	SCH015	Schizophrenia	76
2454		SQM013	Squamous Cell Carcinoma, Head and Neck	75
2455	P	FML011	Familial Adenomatous Polyposis	73
2456		MSC152	Muscular Dystrophy, Becker Type	72
2457		KPS004	Kaposi Sarcoma	71
2458		MLT157	Multiple System Atrophy 1	71
2459	c	SPN225	Spondyloarthropathy 1	70
2460		ALP103	Alpha-1-Antitrypsin Deficiency	70
2461	P	PHC003	Pheochromocytoma	70
2462	c	MCP052	Mucopolysaccharidosis, Type Vi	70
2463	c	MNN047	Mannosidosis, Alpha B, Lysosomal	70
2464	P	ESS003	Essential Thrombocythemia	70
2465	P	LKM062	Leukemia, Acute Lymphoblastic	69
2466	P	DYS007	Dyskeratosis Congenita	69
2467	P	PRM011	Primary Ciliary Dyskinesia	69
2468	c	MCL062	Mucolipidosis Ii Alpha/beta	69
2469	c	DNG003	Dengue Disease	69
2470		ABT001	Abetalipoproteinemia	69
2471	c	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	69
2472	c	HRD010	Hereditary Spastic Paraplegia	68
2473		HTC003	Hutchinson-Gilford Progeria Syndrome	68
2474		PRP001	Propionic Acidemia	68
2475		LYM007	Lymphangioleiomyomatosis	68
2476	P	KBK002	Kabuki Syndrome 1	67
2477	P	MCK013	Meckel Syndrome, Type 1	67
2478	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
2479	c	BSL007	Basal Cell Carcinoma	67
2480	P	VNT034	Ventricular Fibrillation, Paroxysmal Familial, 1	67
2481	P	CCK001	Cockayne Syndrome	67
2482	c	PRG042	Progressive Familial Heart Block, Type Ia	67
2483		LWC002	Lowe Oculocerebrorenal Syndrome	67
2484	P	DBT009	Diabetes Mellitus	67
2485	c	FML346	Familial Adenomatous Polyposis 1	67
2486		CHR103	Charge Syndrome	66
2487		BLM001	Bloom Syndrome	66
2488	P	GLC113	Galactosemia I	66
2489		MLT118	Multiple Acyl-Coa Dehydrogenase Deficiency	66
2490	c	MCL013	Mucolipidosis Iv	66
2491