Blood Diseases Category (1998 diseases)

Including: Blood, Hematological, Arythrocytes, Hemoglobin, Thalassemia, Clotting
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		GLN010	Glanzmann Thrombasthenia	68
2	c	BTT014	Beta-Thalassemia	71
3	P	BRN019	Bernard-Soulier Syndrome	61
4		GRY002	Gray Platelet Syndrome	58
5		ALP095	Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	34
6	P	ESS003	Essential Thrombocythemia	71
7		THR100	Thrombocytopenic Purpura, Autoimmune	65
8		PRT012	Prothrombin Deficiency	39
9	c	PRT045	Prothrombin-Related Thrombophilia	21
10		MCR359	Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss	41
11	c	THR001	Thrombocytopenia Due to Platelet Alloimmunization	59
12		HRD083	Hereditary Antithrombin Deficiency	28
13		PLT019	Platelet Disorder, Familial, with Associated Myeloid Malignancy	33
14	P	THR005	Thrombotic Thrombocytopenic Purpura	64
15	c	ALP101	Alpha-Thalassemia	60
16	P	SCK034	Sickle Beta Thalassemia	31
17	P	HMG032	Hemoglobin H Disease	51
18		SCT005	Scott Syndrome	47
19		GHS005	Ghosal Hematodiaphyseal Dysplasia	29
20		THR009	Thrombocytopenia-Absent Radius Syndrome	59
21		BLD053	Blood Platelet Disease	53
22	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	64
23		HMT002	Hematologic Cancer	62
24	c	AMG001	Amegakaryocytic Thrombocytopenia, Congenital	50
25		ALP100	Alpha-Thalassemia/mental Retardation Syndrome, X-Linked	65
26		SCK003	Sickle Cell Anemia	72
27		STR081	Stormorken Syndrome	52
28		ALP093	Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related	50
29		DYS127	Dyserythropoietic Anemia and Thrombocytopenia	20
30		QBC001	Quebec Platelet Disorder	41
31		ANT009	Antithrombin Iii Deficiency	58
32		FCT013	Factor V Leiden Thrombophilia	17
33	c	THR092	Thrombophilia Due to Thrombin Defect	69
34	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	41
35	c	THR044	Thrombotic Thrombocytopenic Purpura, Acquired	31
36		PRT129	Prothrombin Deficiency, Congenital	52
37		HMN035	Hemangioma-Thrombocytopenia Syndrome	41
38		THR068	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	26
39		THR051	Thrombocytopenia with Beta-Thalassemia, X-Linked	23
40		BTT013	Beta-Thalassemia, Dominant Inclusion Body Type	22
41		PRT011	Protein C Deficiency	54
42		ALP013	Alpha-Thalassemia Myelodysplasia Syndrome	29
43		STR089	Storage Pool Platelet Disease	48
44		HRD164	Hereditary Antithrombin Deficiency Type I	6
45		HRD163	Hereditary Antithrombin Deficiency Type 2	5
46		HPR003	Heparin-Induced Thrombocytopenia	49
47		PLT004	Platelet Glycoprotein Iv Deficiency	44
48		THR101	Thrombocytopenia, Paris-Trousseau Type	24
49	P	WSK001	Wiskott-Aldrich Syndrome	76
50	c	THR090	Thrombocythemia 1	40
51		ALP094	Alpha Thalassemia-Intellectual Disability Syndrome Type 1	35
52		PRX008	Paroxysmal Cold Hemoglobinuria	31
53	c	WSK002	Wiskott-Aldrich Syndrome 2	18
54	c	WSK003	Wiskott-Aldrich Syndrome, Autosomal Dominant Form	17
55	P	ACQ041	Acquired Amegakaryocytic Thrombocytopenia	24
56		THR097	Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia	22
57		SCK020	Sickle Cell - Hemoglobin D Disease	14
58		THR016	Thrombophlebitis	52
59	P	HML033	Hemolytic Uremic Syndrome, Atypical 1	66
60	c	THR082	Thrombophilia Due to Activated Protein C Resistance	60
61		INT078	Intracranial Thrombosis	46
62	c	HML034	Hemolytic Uremic Syndrome, Atypical 3	22
63	c	HML037	Hemolytic Uremic Syndrome, Atypical 5	22
64	c	HML032	Hemolytic Uremic Syndrome, Atypical 4	22
65	c	HML036	Hemolytic Uremic Syndrome, Atypical 6	22
66	c	HML035	Hemolytic Uremic Syndrome, Atypical 2	21
67		BLD141	Blood Group--Kell System	16
68	P	HMG026	Hemoglobin E-Beta-Thalassemia Syndrome	18
69		THR039	Thrombocytopenia Robin Sequence	12
70		ALP029	Alpha-Thalassemia-Abnormal Morphogenesis	5
71		FTL012	Fetal and Neonatal Alloimmune Thrombocytopenia	39
72	P	RDL034	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1	26
73	c	THR110	Thrombocytopenia 6	24
74		HMG005	Hemoglobinopathy	52
75		ANM044	Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities	22
76		WTL002	Wt Limb-Blood Syndrome	20
77		THR120	Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency	16
78		BLD160	Blood Group, John Milton Hagen System	10
79		THR024	Thrombosis	63
80		THR116	Thrombocytopenia, Cyclic	24
81		MLT037	Multifocal Lymphangioendotheliomatosis with Thrombocytopenia	18
82		BLD146	Blood Group, P1pk System	16
83		THR004	Thrombocytosis	53
84	c	THR086	Thrombocythemia 3	21
85		CMP080	Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy	21
86		CNT010	Central Nervous System Hematologic Cancer	33
87	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	21
88		BLD167	Blood Group, Kidd System	16
89		PLM033	Pulmonary Embolism	63
90		CYC010	Cyclic Neutropenia	60
91		SCK005	Sickle Cell Disease	57
92	P	BLD051	Blood Coagulation Disease	47
93		CHR466	Chronic Thromboembolic Pulmonary Hypertension	43
94	c	HMG003	Hemoglobin E Disease	42
95	c	HMG001	Hemoglobin C Disease	42
96		HPR006	Heparin Cofactor Ii Deficiency	35
97		SGT001	Sagittal Sinus Thrombosis	34
98		CVR002	Cavernous Sinus Thrombosis	28
99	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	23
100		THR089	Thrombophilia Due to Protein S Deficiency, Autosomal Dominant	23
101		VTM009	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1	22
102		HMG028	Hemoglobin Lepore-Beta-Thalassemia Syndrome	17
103	c	HMG027	Hemoglobin C-Beta-Thalassemia Syndrome	13
104		PRM053	Primary Release Disorder of Platelets	11
105		FMR001	Femoral Vein Thrombophlebitis	10
106		WHT007	White Platelet Syndrome	10
107		RPH001	Raph Blood Group System	9
108	P	HMT005	Hematocrit/hemoglobin Quantitative Trait Locus 1	6
109	c	HMT006	Hematocrit/hemoglobin Quantitative Trait Locus 2	6
110	c	HMT007	Hematocrit/hemoglobin Quantitative Trait Locus 3	6
111		MCR041	Macrothrombocytopenia Progressive Deafness	5
112	c	SCP001	Sc Phocomelia Syndrome	40
113		BLD054	Blood Protein Disease	37
114	c	DKP001	Dk Phocomelia Syndrome	24
115	P	PHC014	Phocomelia	22
116	c	THR087	Thrombocythemia 2	17
117	c	THR023	Thrombophilia Due to Thrombomodulin Defect	17
118		VTM010	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2	16
119	c	MCR125	Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related	15
120		PRT018	Portal Vein Thrombosis	50
121		BLC004	Blackwater Fever	34
122	c	BLD140	Blood Group, I System	30
123		BLD165	Blood Group, Colton System	27
124	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	21
125		BLD155	Blood Group, Cromer System	19
126		BLD159	Blood Group, Junior System	19
127		PRN017	Perianal Hematoma	16
128		BLD162	Blood Group, Vel System	14
129		BLD166	Blood Group, Diego System	12
130		BLD158	Blood Group, Chido/rodgers System	8
131		DFC004	Deficiency Anemia	66
132	P	HML001	Hemolytic-Uremic Syndrome	53
133		HMG002	Hemoglobinuria	51
134		CRN017	Coronary Thrombosis	48
135		PRT014	Protein S Deficiency	47
136		PLM101	Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis	35
137		HMG010	Hemoglobinemia	29
138		QLT001	Qualitative Platelet Defect	28
139		LTR002	Lateral Sinus Thrombosis	28
140		HMT001	Hematocele of Tunica Vaginalis Testis	26
141		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	25
142		THR067	Thrombophilia Due to Protein C Deficiency, Autosomal Dominant	22
143		SYS059	Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease	20
144		THR121	Thrombocythemia with Distal Limb Defects	7
145		THR043	Thrombomodulin Anomalies, Familial	7
146	P	MNP015	Mean Platelet Volume Quantitative Trait Locus 2	6
147	c	DPL004	D-Plus Hemolytic Uremic Syndrome	4
148		HMT018	Hematopoietic Stem Cell Transplantation	58
149		PST095	Post-Thrombotic Syndrome	51
150		ASP030	Aspirin Resistance	47
151		RFR004	Refractory Hematologic Cancer	29
152		PLT006	Platelet-Activating Factor Acetylhydrolase Deficiency	24
153		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	20
154	c	RDL033	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2	20
155	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	14
156		HMG031	Hemoglobin, High Altitude Adaptation	11
157	c	HYP595	Hypertension, Essential	78
158	c	AFB002	Afibrinogenemia, Congenital	59
159		FCT006	Factor V Deficiency	55
160	c	MLG069	Malignant Hypertension	50
161		RTN193	Retinitis Pigmentosa and Erythrocytic Microcytosis	46
162	P	FML187	Familial Hypertension	42
163	c	MLG039	Malignant Essential Hypertension	30
164		STC016	Sticky Platelet Syndrome	30
165		BLD161	Blood Group, Globoside System	30
166	c	MLG080	Malignant Secondary Hypertension	26
167	c	BNG021	Benign Essential Hypertension	26
168		BLD163	Blood Group, Dombrock System	26
169		BLD164	Blood Group, Gerbich System	22
170	c	BRN132	Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	22
171		RDN004	Radin Blood Group Antigen	19
172		THR088	Thrombophilia Due to Protein S Deficiency, Autosomal Recessive	18
173		BLD151	Blood Group--Wright Antigen	15
174		THR055	Thrombophilia, X-Linked, Due to Factor Ix Defect	15
175		BLD148	Blood Group, Langereis System	13
176	c	HYP452	Hypertension, Essential 6	11
177	c	HYP450	Hypertension, Essential 4	11
178	c	HYP449	Hypertension, Essential 3	11
179		BLD144	Blood Group System, Landsteiner-Wiener	11
180	c	HYP451	Hypertension, Essential 5	10
181	c	HYP453	Hypertension, Essential 7	10
182	c	HYP448	Hypertension, Essential 2	10
183	c	HYP454	Hypertension, Essential 8	10
184	c	HYP447	Hypertension, Essential 1	10
185	c	BNG034	Benign Secondary Hypertension	6
186		DSS009	Disseminated Intravascular Coagulation	56
187	P	THR015	Thrombophilia	55
188		THR035	Thrombasthenia	46
189	P	SDR003	Sideroblastic Anemia	44
190		PLT015	Platelet Aggregation, Spontaneous	42
191		TNP004	Tn Polyagglutination Syndrome	38
192	c	INH004	Inherited Blood Coagulation Disease	36
193		HMM001	Hemometra	31
194	c	HMG004	Hemoglobin D Disease	25
195	c	ANM034	Anemia, Sideroblastic, 4	20
196		INT076	Intracranial Sinus Thrombosis	20
197		PLT035	Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease	17
198		MND006	Mondor Disease	16
199		SVR099	Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency	15
200	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	15
201		ACQ051	Acquired Prothrombin Deficiency	13
202		PRM285	Primitive Portal Vein Thrombosis	13
203		THR040	Thrombocytopenia with Elevated Serum Iga and Renal Disease	11
204		THR098	Thrombocythemia, X-Linked	11
205		FCT024	Factor V Excess with Spontaneous Thrombosis	10
206		ILC001	Iliac Vein Thrombophlebitis	9
207	P	ATS205	Autosomal Thrombocytopenia with Normal Platelets	6
208		MDC003	Medich Giant Platelet Syndrome	6
209		CYT021	Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder	6
210	c	MNP014	Mean Platelet Volume Quantitative Trait Locus 1	6
211	c	MNP016	Mean Platelet Volume Quantitative Trait Locus 3	6
212	c	MNP019	Mean Platelet Volume Quantitative Trait Locus 4	6
213	c	MNP021	Mean Platelet Volume Quantitative Trait Locus 6	6
214	c	MNP020	Mean Platelet Volume Quantitative Trait Locus 5	6
215	c	SCK008	Sickle Delta Beta Thalassemia	6
216		HMG024	Hemoglobinopathy Toms River	6
217	c	HRD112	Hereditary Thrombocytopenia with Normal Platelets	6
218		BLD143	Blood Group--Lke	5
219		SKL010	Skeleto Cardiac Syndrome with Thrombocytopenia	3
220		THR038	Thrombocytopenia Cerebellar Hypoplasia Short Stature	2
221	P	DBT026	Diabetes Mellitus, Noninsulin-Dependent	91
222	P	HYP014	Hyperuricemia	56
223	c	DBT093	Diabetes Mellitus, Noninsulin-Dependent, 1	26
224	c	HRD048	Hereditary Hyperuricemia	15
225		THR112	Thrombocytopenia, Anemia, and Myelofibrosis	15
226	c	DBT033	Diabetes Mellitus, Noninsulin-Dependent, 2	15
227	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	14
228	c	DBT086	Diabetes Mellitus, Noninsulin-Dependent, 5	14
229	c	DBT097	Diabetes Mellitus, Noninsulin-Dependent, 4	12
230	c	DBT095	Diabetes Mellitus, Noninsulin-Dependent, 3	11
231		RHN014	Rh-Null, Amorph Type	11
232		MLR004	Malaria	85
233	P	MYC007	Myocardial Infarction	77
234	c	ACT075	Acute Myocardial Infarction	56
235		IRN001	Iron Deficiency Anemia	55
236	P	HMC002	Homocystinuria	52
237		PNC001	Pancytopenia	51
238	P	HRD012	Hereditary Elliptocytosis	43
239		MRN001	Marantic Endocarditis	42
240		ATM012	Autoimmune Disease of Blood	29
241	c	PST001	Posterior Myocardial Infarction	28
242	c	MYC058	Myocardial Infarction 2	26
243		BLD153	Blood Group--Swann System	25
244	c	ELL005	Elliptocytosis 2	21
245	c	ELL006	Elliptocytosis 3	19
246		THR007	Thrombophlebitis Migrans	17
247		ACH007	Achenbach Syndrome	9
248	c	HMC017	Homocystinuria Due to Defect in Methylation Cbl E	4
249	c	HMC018	Homocystinuria Due to Defect in Methylation Cbl G	4
250	P	CRN018	Coronary Artery Anomaly	75
251	P	DBT009	Diabetes Mellitus	67
252		ISC004	Ischemia	66
253	P	HML002	Hemolytic Anemia	63
254		HYP056	Hypoglycemia	63
255	P	SHW006	Shwachman-Diamond Syndrome 1	62
256		GST033	Gestational Diabetes	62
257	P	END033	Endocarditis	60
258	c	PRC016	Pre-Eclampsia	60
259	P	PLY018	Polycythemia	60
260	P	ECL001	Eclampsia	57
261		CRT016	Carotid Artery Disease	57
262	c	SVR005	Severe Pre-Eclampsia	56
263		HMC014	Homocysteinemia	54
264	c	PRM012	Primary Polycythemia	52
265		RYN005	Raynaud Phenomenon	51
266		CRY004	Cryoglobulinemia	50
267	c	DMN023	Diamond-Blackfan Anemia 1	50
268		ISC015	Ischemic Colitis	48
269	P	PRP034	Purpura Fulminans	45
270	c	ACQ010	Acquired Polycythemia	43
271		HYP003	Hypermethioninemia	39
272		CRT004	Carotid Artery Thrombosis	38
273	c	SBC003	Subacute Bacterial Endocarditis	35
274		CRB132	Cerebral Sinovenous Thrombosis	35
275		PLT031	Platelet Membrane Fluidity	34
276		OVL001	Ovalocytosis, Southeast Asian	33
277	c	ACQ047	Acquired Methemoglobinemia	31
278	c	TYP035	Type 1 Diabetes Mellitus 11	29
279	c	TYP037	Type 1 Diabetes Mellitus 13	29
280		SMH001	Sm-Ahnmd	29
281	c	CRN133	Coronary Artery Disease, Autosomal Dominant, 1	28
282	c	TYP032	Type 1 Diabetes Mellitus 6	28
283	P	ATS208	Autosomal Dominant Macrothrombocytopenia	28
284		PRK005	Prekallikrein Deficiency	27
285	c	TYP033	Type 1 Diabetes Mellitus 7	27
286	c	CNG223	Congenital Methemoglobinemia	27
287		BLD052	Blood Group Incompatibility	27
288	c	TYP028	Type 1 Diabetes Mellitus 2	26
289	c	TYP036	Type 1 Diabetes Mellitus 12	25
290	c	TYP031	Type 1 Diabetes Mellitus 5	25
291		BLD137	Blood Group--Ahonen	24
292	c	TYP027	Type 1 Diabetes Mellitus 10	24
293	c	TYP038	Type 1 Diabetes Mellitus 15	24
294		MYH015	Myh-9 Related Disease	23
295	c	TYP039	Type 1 Diabetes Mellitus 17	21
296	c	SHW007	Shwachman-Diamond Syndrome 2	21
297	c	ATS209	Autosomal Dominant Secondary Polycythemia	20
298		TFR002	Tafro Syndrome	20
299	c	TYP040	Type 1 Diabetes Mellitus 18	20
300	c	TYP034	Type 1 Diabetes Mellitus 8	20
301		FRS010	Forsythe-Wakeling Syndrome	19
302	c	TYP030	Type 1 Diabetes Mellitus 4	19
303		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	19
304	c	CRN304	Coronary Artery Disease, Autosomal Dominant 2	19
305		DHY015	Dehydrated Hereditary Stomatocytosis 2	19
306	P	BLD150	Blood Group--Ul System	19
307		VNS012	Venous Thoracic Outlet Syndrome	18
308		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	18
309		PLS032	Plasmodium Falciparum Blood Infection Level	17
310	c	TYP029	Type 1 Diabetes Mellitus 3	17
311		PLT016	Platelet Adenylate Cyclase Activity	16
312		HRD160	Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors	15
313		DNV002	De Novo Thrombotic Microangiopathy After Kidney Transplantation	13
314	c	THR119	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	13
315		PLT028	Platelet Factor 3 Deficiency	12
316		THR115	Thrombocyte B	11
317	c	ACQ039	Acquired Purpura Fulminans	11
318		OST157	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	11
319	c	MTH084	Methemoglobinemia, Alpha Type	10
320	P	PLT029	Platelet Groups--Ko System	10
321		PLT034	Platelet Prostacyclin Receptor Defect	9
322		PLT027	Platelet Disorder, Undefined	9
323		PLS033	Plasma Clot Retraction Factor, Deficiency of	9
324	c	MTH083	Methemoglobinemia, Beta Type	9
325		ANT082	Antithrombin, Familial Hemorrhagic Diathesis Due to	9
326		PLT033	Platelet Signal Processing Defect	9
327	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	9
328		BLD145	Blood Group--Newfoundland	9
329		ATH014	Athrombia, Essential	8
330	c	DBT096	Diabetes Mellitus, Congenital Autoimmune	8
331		WHT020	White Blood Cell Count Quantitative Trait Locus 1	8
332		PLT032	Platelet Responsiveness to Adrenaline, Depressed	7
333		HMG030	Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain	7
334		YTB001	Yt Blood Group Antigen	7
335		TRN013	Transient Neonatal Thrombocytopenia	7
336		THL019	Thalassemia, Beta+, Silent Allele	7
337		UNS001	Unstable Hemoglobin Disease	6
338	c	PLY005	Polycythemia Due to Hypoxia	6
339		BLD147	Blood Group--Private Systems	4
340		HMT020	Hematopoietic Stem Cell Kinetics, Control of	4
341		MCR178	Macrothrombocytopenia with Mitral Valve Insufficiency	4
342		BLD136	Blood Group--Abh Antigen, Type 2	3
343		BLD139	Blood Group--En	3
344	c	PLT030	Platelet Groups--Pl System	3
345		BLD135	Blood Group--Abo Suppressor	3
346		SCK036	Sickle Cell Disease Associated with an Other Hemoglobin Anomaly	3
347		MYL069	Myeloma, Multiple	85
348	P	ATX030	Ataxia-Telangiectasia	84
349	c	LKM061	Leukemia, Acute Myeloid	83
350	P	FNC027	Fanconi Anemia, Complementation Group a	82
351		IMM106	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked	77
352		PLY001	Polycythemia Vera	76
353		KPS004	Kaposi Sarcoma	76
354		APL001	Aplastic Anemia	74
355	c	LKM063	Leukemia, Chronic Myeloid	74
356	c	ATM006	Autoimmune Lymphoproliferative Syndrome	72
357	P	DMN001	Diamond-Blackfan Anemia	71
358	P	AGM001	Agammaglobulinemia	71
359		ART016	Aortic Aneurysm	70
360		MYL009	Myelodysplastic Syndrome	70
361		MYL005	Myelofibrosis	69
362	P	HMP002	Hemophagocytic Lymphohistiocytosis	69
363	P	AMY004	Amyloidosis	68
364		CNG034	Congestive Heart Failure	68
365	P	DYS007	Dyskeratosis Congenita	68
366	P	LKM062	Leukemia, Acute Lymphoblastic	68
367		BRK010	Burkitt Lymphoma	68
368	P	WLD002	Waldenstrom Macroglobulinemia	68
369		CRB039	Cerebrovascular Disease	67
370	P	PRD008	Periodontitis	66
371		ATH013	Atherosclerosis Susceptibility	66
372	c	GLY008	Glycogen Storage Disease Ii	66
373		DNG002	Dengue Hemorrhagic Fever	65
374	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	65
375	P	THL005	Thalassemia	65
376		HYP066	Hyperglycemia	64
377	P	GCH001	Gaucher's Disease	64
378	c	ADL017	Adult T-Cell Leukemia	63
379	c	ACT074	Acute Lymphocytic Leukemia	63
380	c	ATM082	Autoimmune Lymphoproliferative Syndrome, Type V	62
381		LSC001	Lesch-Nyhan Syndrome	62
382	P	HST010	Histiocytosis	61
383	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	61
384		PRP030	Purpura	61
385	c	GCH015	Gaucher Disease, Type I	61
386		GT001	Gout	60
387	P	GLY013	Glycogen Storage Disease	60
388	P	HMN010	Hemangioma	60
389	P	NTR004	Neutropenia	60
390	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
391		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	60
392		NTH001	Netherton Syndrome	59
393	c	PRD040	Periodontitis, Chronic	59
394		ANG020	Angiosarcoma	58
395	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	58
396		FCT003	Factor X Deficiency	57
397	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	57
398		HYP810	Hypereosinophilic Syndrome, Idiopathic	57
399	P	ACT105	Acute Mountain Sickness	56
400	P	ERY058	Erythrocytosis, Familial, 1	56
401	c	ANM036	Anemia, Sideroblastic, 1	56
402	P	HMR003	Hemorrhagic Disease	56
403	c	OST163	Osteopetrosis, Autosomal Recessive 3	55
404		FCT001	Factor Viii Deficiency	55
405		HYP005	Hypokalemia	55
406	P	HYP050	Hyperinsulinemic Hypoglycemia	55
407	c	GCH016	Gaucher Disease, Type Ii	54
408	P	VNS003	Venous Insufficiency	54
409		HRT012	Heart Valve Disease	54
410	P	GRS003	Griscelli Syndrome	53
411		TRS021	Triosephosphate Isomerase Deficiency	52
412	c	THR045	Thrombotic Thrombocytopenic Purpura, Congenital	52
413		RTN003	Retinal Ischemia	52
414	c	FNC042	Fanconi Anemia, Complementation Group D2	52
415		PRP082	Porphyria, Congenital Erythropoietic	52
416		HLL004	Hellp Syndrome	51
417		BRT005	Barth Syndrome	51
418		FLT011	Felty Syndrome	51
419		HNN001	Hennekam Syndrome	51
420		GLC009	Glucosephosphate Dehydrogenase Deficiency	51
421		ORT008	Orotic Aciduria	50
422		HYP006	Hypertensive Heart Disease	50
423	c	GCH017	Gaucher Disease, Type Iii	49
424		RVS001	Revesz Syndrome	49
425		PLY112	Polyarteritis Nodosa, Childhood-Onset	49
426	c	GRS014	Griscelli Syndrome, Type 2	49
427		EXT010	Extramedullary Plasmacytoma	49
428	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
429	c	VNW008	Von Willebrand Disease, Type 3	49
430	P	FNC044	Fanconi Anemia, Complementation Group C	49
431	P	ANL018	Analbuminemia	48
432	c	CHR431	Chronic Venous Insufficiency	48
433		PRD004	Prediabetes Syndrome	48
434		VTM002	Vitamin B12 Deficiency	48
435		TRN022	Transcobalamin Ii Deficiency	48
436		ESN002	Eosinophilia-Myalgia Syndrome	48
437	P	RTN014	Retinal Artery Occlusion	48
438	P	MTH007	Methemoglobinemia	48
439	P	ART018	Aortic Valve Insufficiency	47
440		LPP002	Lipoprotein Glomerulopathy	47
441	c	CHR546	Chronic Mountain Sickness	47
442	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	46
443		VTM001	Vitamin K Deficiency Hemorrhagic Disease	46
444	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	46
445	c	SPH013	Spherocytosis, Type 1	46
446	c	GLY023	Glycogen Storage Disease Type 0	45
447	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
448		PLM035	Pulmonary Eosinophilia	45
449	c	FNC047	Fanconi Anemia, Complementation Group Q	44
450		RFR010	Refractory Anemia	44
451		PKL001	Poikiloderma with Neutropenia	44
452		PRS127	Pearson Marrow-Pancreas Syndrome	44
453	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	44
454	c	ACR116	Aicardi-Goutieres Syndrome 1	44
455	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	44
456	c	FNC058	Fanconi Anemia, Complementation Group R	44
457		HMP001	Hemopericardium	43
458		NTR018	Neutrophilia, Hereditary	43
459		LKS001	Leukostasis	43
460		ANM001	Anemia of Prematurity	43
461		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	43
462		MCR018	Microcytic Anemia	43
463		TRC021	Tricuspid Valve Stenosis	43
464		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	42
465		ESN017	Eosinophilic Granuloma	42
466	c	FNC056	Fanconi Anemia, Complementation Group V	42
467		IND002	Indolent Systemic Mastocytosis	42
468	c	FNC052	Fanconi Anemia, Complementation Group T	42
469		MCR017	Macrocytic Anemia	42
470	c	GLY098	Glycogen Storage Disease, Type Ixd	42
471	c	FNC025	Fanconi Anemia, Complementation Group J	41
472	c	FNC045	Fanconi Anemia, Complementation Group F	41
473	c	FNC029	Fanconi Anemia, Complementation Group I	41
474	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	41
475		SPT002	Septicemic Plague	41
476	c	FNC057	Fanconi Anemia, Complementation Group U	41
477	P	CNG003	Congenital Dyserythropoietic Anemia	41
478	c	CNT028	Central Retinal Artery Occlusion	41
479	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
480	c	FNC032	Fanconi Anemia, Complementation Group B	40
481	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	40
482	c	TRN009	Transient Hypogammaglobulinemia of Infancy	40
483		NNK001	Nonaka Myopathy	40
484	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	39
485	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	39
486		OVR093	Overhydrated Hereditary Stomatocytosis	39
487	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	39
488	P	TRN016	Transient Hypogammaglobulinemia	39
489	c	MNS014	Monosomy 22	38
490	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	38
491	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	38
492	c	FNC023	Fanconi Anemia, Complementation Group N	38
493	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	38
494	c	OST126	Osteopetrosis, Autosomal Recessive 1	38
495	c	PSD106	Pseudo-Torch Syndrome 1	38
496	c	FNC028	Fanconi Anemia, Complementation Group L	37
497	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	37
498		GLY032	Glycosylphosphatidylinositol Deficiency	37
499	c	INF086	Inflammatory Bowel Disease 3	37
500		LTT002	Letterer-Siwe Disease	37
501	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
502		FNC030	Fanconi Anemia, Complementation Group G	37
503	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	37
504	c	SPH016	Spherocytosis, Type 4	37
505	c	CNG188	Congenital Disorder of Glycosylation, Type if	36
506	c	INF087	Inflammatory Bowel Disease 4	36
507	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	36
508		FLT009	Folate Malabsorption, Hereditary	36
509		BLT003	Blue Toe Syndrome	35
510		MYL002	Myelophthisic Anemia	35
511	c	PRM149	Primary Hypereosinophilic Syndrome	35
512		LCH001	Leech Infestation	35
513	c	CNG379	Congenital Disorder of Glycosylation, Type It	35
514		ACQ031	Acquired Idiopathic Sideroblastic Anemia	35
515	c	SPH014	Spherocytosis, Type 2	35
516	c	SPH015	Spherocytosis, Type 3	35
517		HYP001	Hypochromic Microcytic Anemia	35
518	P	HVY001	Heavy Chain Disease	35
519	c	FNC048	Fanconi Anemia, Complementation Group O	35
520	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	34
521		PRC051	Paracetamol Poisoning	34
522		GNT005	Giant Hemangioma	34
523	c	PRC031	Preeclampsia/eclampsia 1	34
524		PLT001	Plethora of Newborn	34
525	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	34
526	c	CNG195	Congenital Disorder of Glycosylation, Type Id	33
527		KLL014	Kelley-Seegmiller Syndrome	33
528	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	33
529		NNT011	Neonatal Anemia	33
530	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
531		CHL070	Cholesterol Embolism	33
532		SDR009	Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay	33
533	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	33
534	c	INF092	Inflammatory Bowel Disease 9	32
535		CMP040	Complement Component 4, Partial Deficiency of	32
536		LCN001	Lice Infestation	32
537	c	HRD171	Hereditary Pulmonary Alveolar Proteinosis	32
538		FLL042	Folliculotropic Mycosis Fungoides	32
539	c	DMN021	Diamond-Blackfan Anemia 6	32
540	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	32
541	c	CNG020	Congenital Hypogammaglobulinemia	32
542		NNS003	Non-Secretory Myeloma	32
543	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	31
544		FSR001	Fusariosis	31
545	c	CNG199	Congenital Disorder of Glycosylation, Type Im	31
546	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
547		SML011	Smoldering Myeloma	31
548		FLC001	Folic Acid Deficiency Anemia	31
549		CRY019	Cryohydrocytosis	31
550	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	31
551		TKN001	Takenouchi-Kosaki Syndrome	31
552	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	30
553		RHS001	Rh Isoimmunization	30
554	c	GLY057	Glycogen Storage Disease X	30
555		GLT005	Glutamate Formiminotransferase Deficiency	30
556		PLM007	Pulmonary Aspergilloma	30
557	c	ACR081	Aicardi-Goutieres Syndrome 6	30
558		CNG017	Congenital Nonspherocytic Hemolytic Anemia	29
559	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	29
560		6PH001	6-Phosphogluconate Dehydrogenase Deficiency	29
561	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
562		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	29
563	c	GLY017	Glycogen Storage Disease Ic	29
564	c	NPH102	Nephrotic Syndrome, Type 14	29
565	c	MLG144	Malignant Hemangioma	29
566		BMB001	Bombay Phenotype	29
567	c	GCH013	Gaucher Disease, Type Iiic	28
568	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	28
569		CRT005	Cortical Thymoma	28
570	c	INF089	Inflammatory Bowel Disease 6	28
571	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
572	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	28
573	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
574	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
575	c	INF078	Inflammatory Bowel Disease 2	28
576	c	FNC062	Fanconi Anemia, Complementation Group S	28
577		PHS014	Phosphoglycerate Kinase 1 Deficiency	28
578	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	27
579	c	INF075	Inflammatory Bowel Disease 16	27
580		ANH003	Anhaptoglobinemia	27
581	c	INF088	Inflammatory Bowel Disease 5	27
582	c	PSD107	Pseudo-Torch Syndrome 2	27
583		CYN002	Cyanosis, Transient Neonatal	27
584	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	27
585	c	OST120	Osteopetrosis, Autosomal Recessive 5	26
586	c	SPH017	Spherocytosis, Type 5	26
587		ACD001	Acidophil Adenoma	26
588		HMP028	Hemophagocytic Syndrome Associated with an Infection	26
589	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
590		HDG004	Hodgkin's Granuloma	26
591	c	DMN017	Diamond-Blackfan Anemia 10	25
592	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	25
593	c	GLY001	Glycogen Storage Disease Ix	25
594	c	DMN022	Diamond-Blackfan Anemia 9	25
595		RFR007	Refractory Anemia with Excess Blasts in Transformation	25
596	c	ELL010	Elliptocytosis 1	25
597		CMP041	Complement Factor D Deficiency	25
598		ADL082	Adult Pulmonary Langerhans Cell Histiocytosis	25
599	c	HRM020	Hermansky-Pudlak Syndrome 10	25
600	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	25
601		NTR013	Neutropenia, Nonimmune Chronic Idiopathic, of Adults	24
602		IND003	Indolent Myeloma	24
603		DND003	Dendritic Cell Thymoma	24
604	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	24
605		ATM069	Autoimmune Hemolytic Anemia, Warm Type	24
606	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	24
607		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	24
608	c	DMN019	Diamond-Blackfan Anemia 4	24
609		MXD035	Mixed-Type Autoimmune Hemolytic Anemia	24
610	c	DMN024	Diamond-Blackfan Anemia 7	23
611	c	DMN018	Diamond-Blackfan Anemia 5	23
612		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	23
613	c	ATS210	Autosomal Recessive Sideroblastic Anemia	23
614	c	INF090	Inflammatory Bowel Disease 7	23
615	P	MNS011	Monosomy 9q22.3	22
616	c	INF072	Inflammatory Bowel Disease 11	22
617	c	MNS008	Monosomy 21	22
618		FCT032	Factor Xiii, a Subunit, Deficiency of	22
619	c	DMN029	Diamond-Blackfan Anemia 11	22
620		RFM002	Roifman-Chitayat Syndrome	22
621	c	TRC078	Trichohepatoenteric Syndrome 2	22
622	P	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	22
623	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	22
624	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	22
625	P	SLF001	Sulfhemoglobinemia	22
626	c	FNC061	Fanconi Anemia, Complementation Group W	22
627		LFF002	Loeffler Syndrome	22
628		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	21
629		ARG006	Aregenerative Anemia	21
630		HMC036	Homocystinuria Without Methylmalonic Aciduria	21
631	c	DMN020	Diamond-Blackfan Anemia 8	21
632		DRG014	Drug-Induced Autoimmune Hemolytic Anemia	21
633	c	INF162	Inflammatory Bowel Disease 25	21
634	c	AGM021	Agammaglobulinemia 2, Autosomal Recessive	21
635	c	SCN051	Secondary Pulmonary Alveolar Proteinosis	21
636	c	AGM022	Agammaglobulinemia 3, Autosomal Recessive	21
637		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	21
638	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	20
639	c	AGM020	Agammaglobulinemia 6, Autosomal Recessive	20
640	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	20
641	c	AGM023	Agammaglobulinemia 4, Autosomal Recessive	20
642		HDG006	Hodgkin's Paragranuloma	20
643	c	DMN028	Diamond-Blackfan Anemia 12	20
644		FCT033	Factor Xiii, B Subunit, Deficiency of	20
645	P	PRC045	Preeclampsia/eclampsia 5	20
646	c	DMN039	Diamond-Blackfan Anemia 17	20
647	c	PRM150	Primary Localized Amyloidosis	20
648	c	INF079	Inflammatory Bowel Disease 20	20
649		TLN012	Telangiectasia Macularis Eruptiva Perstans	20
650	c	DMN030	Diamond-Blackfan Anemia 13	19
651		HVY003	Heavy Chain Deposition Disease	19
652	c	AGM015	Agammaglobulinemia 7, Autosomal Recessive	19
653	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	19
654	c	DMN040	Diamond-Blackfan Anemia 16	19
655		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	19
656		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	18
657	c	PRC034	Preeclampsia/eclampsia 4	18
658	c	AHM002	Ah Amyloidosis	18
659	c	PSR022	Psoriasis 15, Pustular	18
660	P	PYR006	Pyridoxine-Responsive Sideroblastic Anemia	18
661		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	18
662	c	AGM024	Agammaglobulinemia 5, Autosomal Dominant	17
663		CTR107	Cataract 13 with Adult I Phenotype	17
664	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	17
665	c	GLY093	Glycogen Storage Disease Ixa	17
666	c	INF073	Inflammatory Bowel Disease 12	17
667	c	ACQ004	Acquired Hemangioma	17
668		HYP018	Hyperglobulinemic Purpura	16
669		GLT036	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to	16
670		ISL085	Isolated Agammaglobulinemia	16
671	c	INF080	Inflammatory Bowel Disease 21	16
672		HYP765	Hyperbilirubinemia, Shunt, Primary	16
673	c	DMN045	Diamond-Blackfan Anemia-Like	16
674	c	AGM017	Agammaglobulinemia 8, Autosomal Dominant	15
675		STR007	Stress Polycythemia	15
676		LFR008	L-Ferritin Deficiency	15
677		NNT054	Neonatal Alloimmune Neutropenia	15
678	c	INF091	Inflammatory Bowel Disease 8	15
679	c	GRN044	Granulomatous Disease, Chronic, Autosomal Dominant Type	15
680		TRN017	Transient Neonatal Neutropenia	14
681		ADN085	Adenylate Kinase Deficiency, Hemolytic Anemia Due to	14
682	c	INF076	Inflammatory Bowel Disease 18	14
683		LGH014	Light and Heavy Chain Deposition Disease	14
684		ISL033	Isolated Delta-Storage Pool Disease	14
685	c	PSD023	Pseudo-Gaucher Disease	14
686		BLL014	Bullous Diffuse Cutaneous Mastocytosis	13
687	c	INF084	Inflammatory Bowel Disease 26	13
688	c	INF082	Inflammatory Bowel Disease 23	13
689	c	INF085	Inflammatory Bowel Disease 27	13
690	c	INF083	Inflammatory Bowel Disease 24	13
691	c	INF074	Inflammatory Bowel Disease 15	13
692	c	INF081	Inflammatory Bowel Disease 22	13
693		INT034	Intracranial Cavernous Angioma	13
694		LCL017	Localized Pagetoid Reticulosis	13
695	c	INF161	Inflammatory Bowel Disease 28	12
696		MLT143	Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	12
697		LTH044	Lutheran Null	12
698	c	INF170	Inflammatory Bowel Disease 29	12
699		BLD072	Bleeding Disorder, East Texas Type	12
700		PSD083	Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	11
701		PRT025	Protein-Deficiency Anemia	11
702	c	MYL070	Myeloproliferative Disease, Autosomal Recessive	11
703	P	RFR014	Refractory Anemia with Excess Blasts Type 2	11
704	c	PRC032	Preeclampsia/eclampsia 2	10
705	c	PRC033	Preeclampsia/eclampsia 3	10
706		CGL001	Coagulation Protein Disease	10
707		SML030	Smouldering Systemic Mastocytosis	10
708	c	SLF013	Sulfhemoglobinemia, Congenital	9
709	c	KRN003	Kernicterus Due to Isoimmunization	9
710	c	MCR162	Macroglobulinemia, Waldenstrom 2	9
711		DCN001	Dic in Newborn	9
712		SMP006	Simple Cryoglobulinemia	9
713		ATY036	Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly	8
714		NDL018	Nodular Urticaria Pigmentosa	8
715	c	ELN001	Elane-Related Neutropenia	8
716		DSS003	Disseminated Eosinophilic Collagen Disease	8
717	c	EPB003	Epb42-Related Hereditary Spherocytosis	7
718		PDT039	Pediatric Castleman Disease	7
719		XLN170	X-Linked Mendelian Susceptibility to Mycobacterial Diseases	7
720		CHR058	Chronic Congestive Splenomegaly	7
721	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	7
722	c	SCN042	Secondary Hypereosinophilic Syndrome	7
723		CVR005	Cavernous Hemangioma of Orbit	7
724		UNC009	Unclassified Myelodysplastic/myeloproliferative Disease	7
725		ATS105	Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency	6
726		SLT002	Solitary Plasmacytoma of Chest Wall	6
727	c	SSC054	Susceptibility to Localized Juvenile Periodontitis	6
728	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	6
729		PLY128	Polyclonal Hyperviscosity Syndrome	6
730	c	RFR015	Refractory Anemia with Excess Blasts Type 1	6
731		ATS075	Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene	6
732		PLQ001	Plaque-Form Urticaria Pigmentosa	6
733	c	ATS408	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3	6
734		TYP022	Typical Urticaria Pigmentosa	6
735		CHR062	Chronic Erythremia	5
736		EXT049	Extramedullary Soft Tissue Plasmacytoma	5
737		HML043	Hemolytic Disease of the Newborn with Kell Alloimmunization	5
738		CLL008	Cellular Phase Chronic Idiopathic Myelofibrosis	5
739	c	HMR041	Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation	5
740		ATS245	Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency	4
741		HYP626	Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections	4
742		HML010	Hemolytic Anemia Due to Glutathione Reductase Deficiency	4
743		UNC008	Unclassified Myelodysplastic Syndrome	4
744		HYP627	Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections	4
745		CVR003	Cavernous Hemangioma of Face	4
746		PRT104	Protein S Acquired Deficiency	4
747		PHY001	Physiological Polycythemia	4
748		DHY001	Dehydration Polycythemia	3
749		MTH064	Methemoglobinemia, Beta-Globin Type	36
750		FCT007	Factor Vii Deficiency	61
751		RTC002	Reticular Dysgenesis	50
752		BRG013	Buerger Disease	61
753		FCT002	Factor Xi Deficiency	58
754		MCL009	Mcleod Syndrome	48
755		PLS029	Plasminogen Activator Inhibitor-1 Deficiency	46
756	c	HMG029	Hemoglobin Se Disease	25
757		BDD001	Budd-Chiari Syndrome	61
758		EVN001	Evans' Syndrome	48
759		CMR002	Coumarin Resistance	51
760		GLT018	Glut1 Deficiency Syndrome 1	42
761		MYL031	Myeloproliferative Neoplasm	62
762	P	ANT006	Antiphospholipid Syndrome	60
763		JCB001	Jacobsen Syndrome	54
764		SBL008	Sea-Blue Histiocyte Disease	51
765		URN003	Urinary Schistosomiasis	50
766	P	DYS026	Dysfibrinogenemia	44
767		CTS005	Catastrophic Antiphospholipid Syndrome	44
768		IVC001	Ivic Syndrome	30
769	c	ANT041	Antiphospholipid Syndrome, Familial	20
770	c	ERY032	Erythrocytosis, Familial, 4	16
771		HMT019	Hematohidrosis	13
772		KTZ001	Kotzot-Richter Syndrome	8
773		PRS059	Prostaglandin-Endoperoxide Synthase Deficiency	8
774		STR067	Stroke, Ischemic	85
775	P	PLM037	Pulmonary Hypertension	77
776		VRC005	Varicose Veins	65
777		CHR635	Chromosome 5q Deletion Syndrome	51
778		CRB138	Core Binding Factor Acute Myeloid Leukemia	48
779		CYT019	Cytogenetically Normal Acute Myeloid Leukemia	35
780		MTH026	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	33
781		HMG009	Hemoglobin Zurich	23
782	c	ERY063	Erythrocytosis, Familial, 5	15
783		PRP001	Propionic Acidemia	63
784	P	HRD011	Hereditary Spherocytosis	58
785	P	PRR002	Pure Red-Cell Aplasia	52
786	c	ERY048	Erythrocytosis, Familial, 2	52
787		ARG007	Argininemia	51
788		CLP006	Clopidogrel Resistance	45
789		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	43
790		PLS030	Plasminogen Deficiency, Type I	39
791	c	DYS165	Dysfibrinogenemia, Congenital	38
792	P	HYP769	Hyperlysinemia, Type I	37
793		VSC008	Vascular Hemostatic Disease	35
794	c	HRD146	Hereditary Methemoglobinemia	29
795		EHL066	Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality	21
796	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
797	c	CHR089	Chronic Kidney Failure	73
798		PRP027	Peripheral Vascular Disease	71
799	P	TTR001	Tetralogy of Fallot	71
800	c	ART115	Aortic Valve Disease 1	71
801	P	PRT008	Proteus Syndrome	69
802		LNG099	Lung Disease	67
803		HYP020	Hyperprolactinemia	64
804	P	CRD119	Cardiac Arrest	64
805	P	ABD014	Abdominal Obesity-Metabolic Syndrome 1	62
806		ANG054	Angina Pectoris	62
807		IRN002	Iron Metabolism Disease	60
808		PYR041	Pyruvate Kinase Deficiency of Red Cells	59
809	P	INT030	Intracranial Aneurysm	59
810		ORN008	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	59
811		TRN015	Transient Cerebral Ischemia	58
812		LYM027	Lymphopenia	57
813		PNL019	Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities	56
814	P	LDD007	Liddle Syndrome 1	56
815		CLC001	Calciphylaxis	53
816		PRN011	Pernicious Anemia	53
817	c	ACQ014	Acquired Hemophilia	52
818		HPT025	Hepatic Lipase Deficiency	52
819		BBS001	Babesiosis	51
820		FCT004	Factor Xii Deficiency	50
821		PRP056	Porphyria, Acute Hepatic	48
822		CVR006	Cavernous Hemangioma	48
823		RSS025	Ras-Associated Autoimmune Leukoproliferative Disorder	47
824	c	ACQ042	Acquired Hemophilia a	44
825	c	PST106	Post-Cardiac Arrest Syndrome	33
826		CRN270	Coronary Artery Dissection, Spontaneous	28
827	c	ABD013	Abdominal Obesity-Metabolic Syndrome 3	27
828		MTH081	Mthfr Gene Variant	27
829		UTR057	Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis	26
830	c	PRT063	Proteus-Like Syndrome	26
831	c	LDD008	Liddle Syndrome 2	23
832		HMC016	Homocystinuria Due to Cbs Deficiency	22
833		ATM091	Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	22
834		PRT112	Portal Hypertension, Noncirrhotic	20
835	c	ATR072	Atrial Fibrillation, Familial, 13	20
836	c	ATR039	Atrial Fibrillation, Familial, 4	20
837	c	ATR035	Atrial Fibrillation, Familial, 6	19
838	c	ATR061	Atrial Fibrillation, Familial, 10	19
839	c	ATR059	Atrial Fibrillation, Familial, 11	19
840	c	ATR069	Atrial Fibrillation, Familial, 12	19
841	c	ATR037	Atrial Fibrillation, Familial, 7	18
842	c	ATR068	Atrial Fibrillation, Familial, 14	18
843	c	ATR038	Atrial Fibrillation, Familial, 3	17
844	c	ERY031	Erythrocytosis, Familial, 3	17
845		ANG063	Angiolipomatosis, Familial	16
846	c	ATR070	Atrial Fibrillation, Familial, 9	16
847	P	STM009	Stomatocytosis I	13
848		FYP001	Faye-Petersen-Ward-Carey Syndrome	11
849	c	LDD009	Liddle Syndrome 3	9
850	c	TTR026	Tetralogy of Fallot Syndrome, Autosomal Recessive	8
851		HML017	Hemolytic Uremic Syndrome, Atypical, Childhood	6
852	c	INT097	Intracranial Aneurysms Multiple Congenital Anomaly	4
853		TSY001	Tau Syndrome	4
854	c	STM013	Stomatocytosis Ii	3
855		ULC004	Ulcerative Colitis	80
856	P	LVR013	Liver Disease	75
857	P	GRF003	Graft-Versus-Host Disease	72
858	P	ATR011	Atrial Fibrillation	69
859	P	PLM036	Pulmonary Fibrosis	69
860	P	KDN018	Kidney Disease	68
861		ALP042	Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity	68
862	c	SYS004	Systemic Mastocytosis	67
863		TKY002	Takayasu Arteritis	67
864	P	CNG411	Congenital Disorder of Glycosylation, Type in	66
865		OST003	Osteonecrosis	66
866	c	CHR417	Chronic Graft Versus Host Disease	66
867	P	HYP098	Hypereosinophilic Syndrome	65
868	P	TXP001	Toxoplasmosis	65
869	c	ART101	Aortic Valve Disease 2	65
870	P	THR014	Thrombocytopenia	64
871	P	MST009	Mastocytosis	63
872	P	BRG001	Brugada Syndrome	62
873	P	MLG056	Malignant Hyperthermia	62
874		LKC009	Leukocyte Adhesion Deficiency, Type I	61
875		CHK001	Chikungunya	61
876	P	GLM007	Glomerulonephritis	60
877		PLS011	Plasmacytoma	60
878		DBT084	Diabetes Mellitus, Ketosis-Prone	60
879		NPH091	Nephrolithiasis, Calcium Oxalate	60
880		CYT008	Cytomegalovirus Infection	60
881	P	NPH012	Nephrotic Syndrome	59
882		PLC005	Placental Insufficiency	59
883		NTR005	Nutritional Deficiency Disease	58
884		PTN001	Patent Foramen Ovale	58
885	c	CNG021	Congenital Toxoplasmosis	58
886		DBT010	Diabetic Neuropathy	58
887	c	VNW010	Von Willebrand Disease, Type 2	58
888	P	MNC007	Monocytic Leukemia	58
889	c	LKM070	Leukemia, Acute Monocytic	57
890	c	ACT135	Acute Graft Versus Host Disease	57
891	c	INF145	Infantile Liver Failure Syndrome 1	57
892		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	57
893	c	AMY009	Amyloidosis Aa	56
894		FDL002	Food Allergy	56
895		INF034	Infective Endocarditis	56
896		BLR008	Bilirubin Metabolic Disorder	55
897		CTR172	Citrullinemia, Classic	55
898	P	MGL001	Megaloblastic Anemia	54
899	P	INF037	Inflammatory Bowel Disease	54
900		VRC001	Varicocele	54
901	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	54
902	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
903		LG4001	Lig4 Syndrome	53
904	P	TCL004	T-Cell Leukemia	53
905	c	INF071	Inflammatory Bowel Disease 1	53
906	c	ACT134	Acute Liver Failure	53
907		ESN015	Eosinophilic Fasciitis	52
908	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	52
909		ATY042	Atypical Chronic Myeloid Leukemia	51
910		BLD044	Bladder Disease	51
911	c	NPH055	Nephrotic Syndrome, Type 1	51
912	c	CHR418	Chronic Leukemia	51
913		OBS037	Obesity-Hypoventilation Syndrome	51
914		DRG026	Drug Reaction with Eosinophilia and Systemic Symptoms	51
915		CHR563	Chronic Eosinophilic Leukemia	51
916		HYP063	Hypersplenism	51
917		CRD137	Cardiogenic Shock	51
918		SPL004	Splenic Marginal Zone Lymphoma	50
919		INT017	Intestinal Schistosomiasis	50
920		CTS011	Cutis Marmorata Telangiectatica Congenita	50
921		HYP088	Hyper-Igd Syndrome	50
922	P	PLM006	Pulmonary Alveolar Proteinosis	50
923		PRL017	Prolymphocytic Leukemia	49
924		ATN002	Autonomic Nervous System Disease	49
925	c	FLL041	Follicular Lymphoma 1	49
926	c	ALK016	Alk-Negative Anaplastic Large Cell Lymphoma	49
927	P	AFB001	Afibrinogenemia	49
928		RDD003	Riddle Syndrome	49
929		PLS009	Plasma Cell Neoplasm	49
930		MST002	Mast-Cell Leukemia	49
931		AGG002	Aggressive Systemic Mastocytosis	49
932		RTC009	Reticulum Cell Sarcoma	48
933		MYD002	Myd88 Deficiency	48
934		INT054	Intraocular Lymphoma	48
935		HDG002	Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance	47
936		NDL021	Nodular Lymphocyte Predominant Hodgkin Lymphoma	47
937		CNG028	Congenital Hypoplastic Anemia	47
938	c	MGL018	Megaloblastic Anemia 1	47
939	c	CNG027	Congenital Hemolytic Anemia	47
940		THY009	Thyroid Lymphoma	47
941	c	VNW005	Von Willebrand Disease, Type 1	46
942		FLL013	Follicular Dendritic Cell Sarcoma	46
943	c	NNS007	Nonsyndromic Deafness	46
944	c	PRM163	Primary Mediastinal Large B-Cell Lymphoma	45
945		CMP004	Complement Factor I Deficiency	45
946		FCT005	Factor Xiii Deficiency	45
947	P	DYS021	Dysautonomia	45
948		MCR225	Macrophage Activation Syndrome	45
949	c	CHR064	Chronic Monocytic Leukemia	44
950		CMP042	Complement Factor H Deficiency	44
951		MST004	Mast Cell Neoplasm	44
952		LKC003	Leukocyte Disease	43
953		RTN021	Retinal Vascular Occlusion	43
954		HYP081	Hypolipoproteinemia	43
955		BCL002	B Cell Deficiency	43
956		IMM184	Immunodeficiency 17	43
957	P	ALK015	Alk-Positive Anaplastic Large Cell Lymphoma	43
958		ZKF001	Zika Fever	43
959		MYL013	Myeloperoxidase Deficiency	43
960	c	DFN200	Deafness, Autosomal Dominant 17	43
961	P	PRM293	Primary Mediastinal B-Cell Lymphoma	42
962	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	42
963		CMP090	Complement Component 3 Deficiency, Autosomal Recessive	42
964		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	42
965		ATN011	Autoinflammation with Infantile Enterocolitis	42
966		HYP801	Hyperferritinemia with or Without Cataract	41
967		PDT001	Pediatric Lymphoma	41
968		HYP236	Hyperbilirubinemia, Rotor Type	41
969		SVR095	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency	41
970		PRS108	Persistent Polyclonal B-Cell Lymphocytosis	41
971	c	FNC024	Fanconi Anemia, Complementation Group D1	41
972	P	PST059	Pustular Psoriasis	41
973		ALD013	Aldosterone-Producing Adenoma	41
974	c	DFN174	Deafness, Autosomal Recessive 44	41
975	c	BRG005	Brugada Syndrome 1	41
976		SHW001	Shwartzman Phenomenon	40
977	c	NPH049	Nephrotic Syndrome, Type 2	40
978	c	DFN203	Deafness, Autosomal Recessive 30	40
979	c	MLG147	Malignant Hyperthermia 1	40
980		CVR010	Cavernous Malformation	40
981		NDL024	Nodal Marginal Zone Lymphoma	40
982		SVR098	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	40
983	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	39
984	c	DFN360	Deafness, Autosomal Dominant 69	39
985	c	HRM011	Hermansky-Pudlak Syndrome 8	39
986		NDL020	Nodal Marginal Zone B-Cell Lymphoma	39
987		INT221	Intravascular Large B-Cell Lymphoma	39
988	c	PRM225	Primary Thrombocytopenia	39
989		EXT007	Extracutaneous Mastocytoma	39
990		RTN072	Retinohepatoendocrinologic Syndrome	39
991		HNZ004	Heinz Body Anemias	39
992		INT038	Interdigitating Dendritic Cell Sarcoma	39
993		PRM155	Primary Cutaneous Anaplastic Large Cell Lymphoma	39
994		HMP018	Hemophilic Arthropathy	39
995	c	THR111	Thrombocytopenia 3	39
996		SPL012	Splenic Disease	39
997		MST001	Mast-Cell Sarcoma	38
998		BLR027	Blue Rubber Bleb Nevus	38
999		FTL004	Fetal Erythroblastosis	38
1000		OST008	Osteosclerotic Myeloma	38
1001	c	DFN117	Deafness, Autosomal Dominant 15	38
1002	c	ADL001	Adult Lymphoma	38
1003	c	HRM012	Hermansky-Pudlak Syndrome 9	38
1004		HYP223	Hypoplastic Right Heart Syndrome	38
1005	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	38
1006		ACT177	Acute Basophilic Leukemia	37
1007		PHS009	Phosphoglycerate Kinase Deficiency	37
1008		MYL067	Myeloproliferative Disorder, Chronic, with Eosinophilia	37
1009		GDS001	Good Syndrome	37
1010		FCT034	Factor V and Factor Viii, Combined Deficiency of, 2	37
1011	c	DFN136	Deafness, Autosomal Dominant 9	37
1012		SLT001	Solitary Osseous Plasmacytoma	36
1013		HDG003	Hodgkin's Lymphoma, Lymphocytic Depletion	36
1014	c	DFN168	Deafness, Autosomal Recessive 26	36
1015	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	36
1016		OMS001	Omsk Hemorrhagic Fever	36
1017		HST016	Histiocytic Sarcoma	36
1018		AGM004	Agammaglobulinemia, Non-Bruton Type	36
1019	c	ATM045	Autoimmune Glomerulonephritis	36
1020	c	WLF009	Wolfram Syndrome 2	36
1021	c	BLD152	Bleeding Disorder, Platelet-Type, 16	36
1022		CMP001	Composite Lymphoma	36
1023		WLD007	Waldenstroem's Macroglobulinemia	35
1024		NCT003	N-Acetylglutamate Synthase Deficiency	35
1025		MDS019	Mediastinal Malignant Lymphoma	35
1026		PYR040	Pyropoikilocytosis, Hereditary	35
1027		CTN001	Cutaneous Solitary Mastocytoma	35
1028	c	DFN330	Deafness, Autosomal Recessive 97	35
1029	c	DFN192	Deafness, Autosomal Dominant 23	34
1030		RFR002	Refractory Hairy Cell Leukemia	34
1031	c	DFN252	Deafness, Autosomal Recessive 24	34
1032		NNT007	Neonatal Leukemia	34
1033	c	NPH054	Nephrotic Syndrome, Type 3	34
1034	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	34
1035	c	HRM010	Hermansky-Pudlak Syndrome 7	34
1036		SPL060	Splenic Diffuse Red Pulp Small B-Cell Lymphoma	34
1037		ALK003	Aleukemic Leukemia Cutis	33
1038	c	DFN353	Deafness, Autosomal Dominant 12	33
1039		ASP026	Asplenia, Isolated Congenital	33
1040		LYM014	Lymphangitis	32
1041	c	BRG007	Brugada Syndrome 5	32
1042	c	DFN095	Deafness, Autosomal Recessive 25	32
1043	c	DFN114	Deafness, Autosomal Recessive 67	32
1044		IMM070	Immunodeficiency 13	32
1045	c	DFN151	Deafness, Autosomal Dominant 24	32
1046		MYL074	Myelodysplastic Syndrome with Excess Blasts	32
1047	c	NJM002	Nijmegen Breakage Syndrome-Like Disorder	32
1048		INT020	Intravenous Leiomyomatosis	32
1049	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	32
1050	c	DFN183	Deafness, Autosomal Recessive 83	32
1051	c	DFN184	Deafness, Autosomal Recessive 85	32
1052	c	BLD154	Bleeding Disorder, Platelet-Type, 12	32
1053	c	BLD157	Bleeding Disorder, Platelet-Type, 9	32
1054		PRM129	Primary Cutaneous Marginal Zone B-Cell Lymphoma	32
1055		PRS002	Prostate Lymphoma	32
1056		PRP038	Properdin Deficiency, X-Linked	32
1057	c	DFN148	Deafness, Autosomal Dominant 16	31
1058	c	DFN260	Deafness, Autosomal Recessive 89	31
1059	c	ACQ005	Acquired Thrombocytopenia	31
1060		ISL122	Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia	31
1061	c	DFN171	Deafness, Autosomal Recessive 33	31
1062		HDG001	Hodgkin's Lymphoma, Nodular Sclerosis	30
1063	c	DFN269	Deafness, Autosomal Recessive 98	30
1064	c	BLD156	Bleeding Disorder, Platelet-Type, 14	30
1065	c	DFN118	Deafness, Autosomal Dominant 44	30
1066	c	BRG006	Brugada Syndrome 2	30
1067		PRD001	Predominantly Cortical Thymoma	30
1068	c	ANM035	Anemia, Hypochromic Microcytic, with Iron Overload 1	30
1069	c	ATS006	Autosomal Recessive Nonsyndromic Deafness	30
1070		CLS052	Classic Hairy Cell Leukemia	30
1071	c	DFN240	Deafness, Autosomal Recessive 96	30
1072	c	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	30
1073		HML042	Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy	29
1074		HST008	Histiocytic and Dendritic Cell Cancer	29
1075	c	GLY043	Glycogen Storage Disease Xii	29
1076	c	DFN116	Deafness, Autosomal Recessive 74	29
1077	c	ACT194	Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation	29
1078		PLM049	Plummer Vinson Syndrome	29
1079		HDG005	Hodgkin's Lymphoma, Mixed Cellularity	29
1080	c	ATS005	Autosomal Dominant Nonsyndromic Deafness	29
1081	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	29
1082	c	DFN119	Deafness, Autosomal Dominant 50	28
1083	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	28
1084	c	DFN160	Deafness, Autosomal Dominant 52	28
1085		NTR011	Neutrophil-Specific Granule Deficiency	28
1086	c	AGM013	Agammaglobulinemia 1, Autosomal Recessive	28
1087		LFF001	Loeffler Endocarditis	28
1088	c	DFN246	Deafness, Autosomal Dominant 51	28
1089		EPT007	Epithelial Malignant Thymoma	28
1090	c	NPH047	Nephrotic Syndrome, Type 4	28
1091	c	ACR084	Aicardi-Goutieres Syndrome 7	28
1092	c	LVR030	Liver Failure, Infantile, Transient	27
1093		RLP008	Relapsed/refractory Diffuse Large B-Cell Lymphoma	27
1094	c	DFN181	Deafness, Autosomal Recessive 66	27
1095		FCL083	Ficolin 3 Deficiency	27
1096	c	ACQ016	Acquired Pure Red Cell Aplasia	27
1097	c	HYP248	Hyperprolinemia, Type I	27
1098	c	DFN150	Deafness, Autosomal Dominant 21	27
1099	c	SNG011	Singleton-Merten Syndrome 1	27
1100	c	DFN111	Deafness, Autosomal Recessive 35	27
1101		SVR032	Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation	27
1102	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	27
1103		PRM127	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type	27
1104		IMM122	Immunodeficiency 41 with Lymphoproliferation and Autoimmunity	27
1105		HYP643	Hypohidrotic Ectodermal Dysplasia with Immunodeficiency	26
1106		HYP648	Hypertension and Brachydactyly Syndrome	26
1107	c	ATS380	Autosomal Recessive Nonsyndromic Deafness 36	26
1108	c	DFN248	Deafness, Autosomal Recessive 18b	26
1109		IMM062	Immunodeficiency 11	26
1110	c	ERY065	Erythrocytosis, Familial, 7	26
1111	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	26
1112	c	DFN280	Deafness, Autosomal Recessive	26
1113		TMP008	Tempi Syndrome	26
1114	c	DFN284	Deafness, Autosomal Dominant 67	26
1115		HGH020	High Molecular Weight Kininogen Deficiency	25
1116		CD8002	Cd8 Deficiency, Familial	25
1117		HSH001	Hashimoto-Pritzker Syndrome	25
1118	c	DFN154	Deafness, Autosomal Dominant 31	25
1119		IMM095	Immunodeficiency 35	25
1120		NTR006	Neutrophil Immunodeficiency Syndrome	25
1121	c	BRG003	Brugada Syndrome 3	25
1122	P	PLM064	Pulmonary Sequestration	25
1123	c	SBC004	Subacute Myeloid Leukemia	25
1124	c	BLD127	Bleeding Disorder, Platelet-Type, 19	25
1125	c	DFN272	Deafness, Autosomal Dominant 54	25
1126	c	BLD125	Bleeding Disorder, Platelet-Type, 17	24
1127		TCL021	T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations	24
1128		IMM132	Immunodeficiency Due to a Classical Component Pathway Complement Deficiency	24
1129	c	INF144	Inflammatory Skin and Bowel Disease, Neonatal, 1	24
1130	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	24
1131	c	CND036	Candidiasis, Familial, 4	24
1132	c	DFN263	Deafness, Autosomal Recessive 68	24
1133	c	OST106	Osteopetrosis, Autosomal Recessive 8	24
1134	c	INF077	Inflammatory Bowel Disease 19	24
1135		BRR004	Baroreflex Failure	24
1136		IMM143	Immunodeficiency 48	24
1137		NTR036	Neutropenia, Severe Congenital, X-Linked	24
1138	c	FML334	Familial Candidiasis	24
1139	c	DFN155	Deafness, Autosomal Dominant 41	24
1140	c	DMN006	Diamond-Blackfan Anemia 3	24
1141		IMM120	Immunodeficiency 40	24
1142		IMM055	Immunodeficiency, Common Variable, 8, with Autoimmunity	23
1143	c	DFN266	Deafness, Autosomal Dominant 4b	23
1144	c	MLG148	Malignant Hyperthermia 2	23
1145		IMM142	Immunodeficiency 50	23
1146	c	DFN163	Deafness, Autosomal Dominant 7	23
1147	c	HYP597	Hyperprolinemia, Type Ii	23
1148	c	DMN005	Diamond-Blackfan Anemia 2	23
1149	c	MLG149	Malignant Hyperthermia 3	23
1150		FBR023	Fibrinogen Deficiency, Congenital	22
1151		IMM068	Immunodeficiency 8	22
1152	c	DFN156	Deafness, Autosomal Dominant 43	22
1153	c	DFN243	Deafness, Autosomal Recessive 88	22
1154	c	DFN173	Deafness, Autosomal Recessive 40	22
1155		HMC042	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	22
1156	c	DFN161	Deafness, Autosomal Dominant 53	22
1157	c	DFN167	Deafness, Autosomal Recessive 20	22
1158	c	INF138	Infantile Liver Failure Syndrome 2	22
1159	c	DFN158	Deafness, Autosomal Dominant 49	22
1160	c	DFN278	Deafness, Autosomal Dominant 65	22
1161		HML052	Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency	22
1162	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	22
1163	c	NPH073	Nephrotic Syndrome, Type 8	22
1164	c	CND025	Candidiasis, Familial, 8	22
1165	c	THR102	Thrombocytopenia 5	22
1166		IMM190	Immunodeficiency 55	22
1167		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	22
1168		IMM117	Immunodeficiency by Defective Expression of Hla Class 1	22
1169		HGH031	High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement	22
1170	c	DFN259	Deafness, Autosomal Recessive 86	22
1171		TRC018	Tracheal Lymphoma	22
1172	c	DFN166	Deafness, Autosomal Recessive 17	22
1173		PRM128	Primary Cutaneous Follicle Center Lymphoma	22
1174		IMM077	Immunodeficiency 20	22
1175	c	CND033	Candidiasis, Familial, 1	22
1176	c	MLG150	Malignant Hyperthermia 4	22
1177		IMM180	Immunodeficiency 28	22
1178	c	DFN261	Deafness, Autosomal Recessive 46	21
1179	c	NPH074	Nephrotic Syndrome, Type 9	21
1180	c	SBC010	Subacute Glomerulonephritis	21
1181		CMB047	Combined Oxidative Phosphorylation Deficiency 18	21
1182		IMM183	Immunodeficiency 32a	21
1183	c	BRG012	Brugada Syndrome 9	21
1184	c	DFN180	Deafness, Autosomal Recessive 65	21
1185	c	DFN271	Deafness, Autosomal Dominant 58	21
1186		IND009	Indeterminate Cell Histiocytosis	21
1187	c	AGM018	Agammaglobulinemia, X-Linked, Type 2	21
1188	c	INF146	Inflammatory Skin and Bowel Disease, Neonatal, 2	21
1189	c	ANM039	Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	21
1190	c	DFN257	Deafness, Autosomal Dominant 33	21
1191		CRB087	Cerebral Arteriosclerosis	21
1192		MNS002	Mini Stroke	21
1193		ACT234	Acute Myeloid Leukemia with Minimal Differentiation	21
1194		MDS006	Mediastinal Gray Zone Lymphoma	21
1195	c	BLD121	Bleeding Disorder, Platelet-Type, 15	21
1196		IMM029	Immunodeficiency Due to Defect in Mapbp-Interacting Protein	21
1197	c	DFN281	Deafness, Autosomal Recessive 103	21
1198		GLL013	Gallbladder Lymphoma	21
1199	c	BLD123	Bleeding Disorder, Platelet-Type, 13	21
1200	c	DFN099	Deafness, Autosomal Dominant 2b	21
1201		IMM063	Immunodeficiency 15	21
1202	c	ADL093	Adult Acute Monocytic Leukemia	21
1203		PLS003	Plasmacytic Leukemia	21
1204	c	DFN254	Deafness, Autosomal Recessive 84b	21
1205	c	SDR005	Sideroblastic Anemia Acquired	21
1206	c	MLG151	Malignant Hyperthermia 5	21
1207	P	NNT037	Neonatal Inflammatory Skin and Bowel Disease	20
1208	c	DFN169	Deafness, Autosomal Recessive 27	20
1209		IMM075	Immunodeficiency 22	20
1210	c	ATS229	Autosomal Recessive Lymphoproliferative Disease	20
1211		IMM134	Immunodeficiency, Common Variable, 13	20
1212	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	20
1213	c	BRG009	Brugada Syndrome 7	20
1214	c	DFN149	Deafness, Autosomal Dominant 18	20
1215	c	DFN164	Deafness, Autosomal Recessive 13	20
1216	c	DFN172	Deafness, Autosomal Recessive 38	20
1217	c	DFN162	Deafness, Autosomal Dominant 59	20
1218		NSL004	Nasal Cavity Lymphoma	20
1219		IMM187	Immunodeficiency 38 with Basal Ganglia Calcification	20
1220		ACT176	Acute Panmyelosis with Myelofibrosis	20
1221	c	BLD133	Bleeding Disorder, Platelet-Type, 20	20
1222		BSP004	Bisphosphoglycerate Mutase Deficiency	20
1223		IMM071	Immunodeficiency 12	20
1224	c	NPH103	Nephrotic Syndrome, Type 15	20
1225	c	OST171	Osteopetrosis, Autosomal Dominant 3	20
1226		IMM079	Immunodeficiency, Common Variable, 11	20
1227		EPS038	Episodic Angioedema with Eosinophilia	20
1228		IMM128	Immunodeficiency Due to a Late Component of Complement Deficiency	20
1229		HHV001	Hhv-6 Encephalitis	20
1230	c	DFN328	Deafness, Autosomal Dominant 72	20
1231	c	DFN265	Deafness, Autosomal Recessive 76	20
1232		IMM150	Immunodeficiency 52	20
1233	c	DFN329	Deafness, Autosomal Dominant 66	20
1234	c	DFN273	Deafness, Autosomal Recessive 101	20
1235	c	NPH096	Nephrotic Syndrome, Type 12	20
1236		ALK017	Alk-Positive Large B-Cell Lymphoma	20
1237	c	DFN364	Deafness, Autosomal Recessive 57	20
1238	c	NPH095	Nephrotic Syndrome, Type 11	20
1239		MSP001	Masp2 Deficiency	20
1240	c	DFN277	Deafness, Autosomal Recessive 102	19
1241	c	BLD126	Bleeding Disorder, Platelet-Type, 18	19
1242	c	DFN182	Deafness, Autosomal Recessive 71	19
1243	c	DFN179	Deafness, Autosomal Recessive 62	19
1244	c	DFN153	Deafness, Autosomal Dominant 30	19
1245	c	DFN157	Deafness, Autosomal Dominant 47	19
1246	c	DFN283	Deafness, Autosomal Recessive 104	19
1247	c	CND031	Candidiasis, Familial, 9	19
1248	c	DFN242	Deafness, Autosomal Recessive 70	19
1249	c	DFN134	Deafness, Autosomal Dominant 40	19
1250	c	THR048	Thrombocytopenia 4	19
1251	c	DFN325	Deafness, Autosomal Recessive 108	19
1252	c	MCR161	Macroglobulinemia, Waldenstrom 1	19
1253	c	SNG012	Singleton-Merten Syndrome 2	19
1254	c	DFN333	Deafness, Autosomal Dominant 73	19
1255		TCL022	T-Cell Receptor-Alpha/beta Deficiency	19
1256		TBS005	T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta	19
1257	c	DFN274	Deafness, Autosomal Dominant 56	19
1258	c	DFN165	Deafness, Autosomal Recessive 14	19
1259	c	DFN175	Deafness, Autosomal Recessive 45	19
1260	c	DFN361	Deafness, Autosomal Recessive 106	19
1261		IMM118	Immunodeficiency 42	19
1262	c	DFN327	Deafness, Autosomal Dominant 70	19
1263	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	19
1264	c	BRG004	Brugada Syndrome 4	19
1265		IMM076	Immunodeficiency 24	19
1266		IMM135	Immunodeficiency 46	19
1267	c	ATS381	Autosomal Recessive Nonsyndromic Deafness 86	19
1268		IMM186	Immunodeficiency 27b	18
1269	c	NPH104	Nephrotic Syndrome, Type 16	18
1270	c	BRG010	Brugada Syndrome 8	18
1271	P	ACT190	Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation	18
1272	c	ANK019	Ankrd26-Related Thrombocytopenia	18
1273		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	18
1274	c	ATR092	Atrial Fibrillation, Familial, 15	18
1275	c	DFN152	Deafness, Autosomal Dominant 27	18
1276		IMM181	Immunodeficiency 29	18
1277	c	ACT195	Acute Myeloid Leukemia with T(9;11)(p22;q23)	18
1278		IMM182	Immunodeficiency 31a	18
1279	c	NPH076	Nephrotic Syndrome, Type 10	18
1280	c	DFN365	Deafness, Autosomal Recessive 109	18
1281	c	DFN335	Deafness, Autosomal Dominant 71	18
1282	c	ATS409	Autosomal Recessive Nonsyndromic Deafness 32	18
1283		THY006	Thymus Lymphoma	18
1284	c	BRG008	Brugada Syndrome 6	17
1285	c	ATR085	Atrial Fibrillation, Familial, 18	17
1286	c	INF067	Inflammatory Bowel Disease 10	17
1287	c	MLG152	Malignant Hyperthermia 6	17
1288	c	DFN337	Deafness, Autosomal Recessive 107	17
1289	c	CND027	Candidiasis, Familial, 3	17
1290	c	DFN336	Deafness, Autosomal Dominant 68	17
1291	c	INF068	Inflammatory Bowel Disease 13	17
1292	c	CNG121	Congenital Pulmonary Alveolar Proteinosis	17
1293	c	NPH093	Nephrotic Syndrome, Type 13	17
1294		MTH049	Methotrexate-Associated Lymphoproliferative Disorders	17
1295	c	INF093	Inflammatory Bowel Disease 14	16
1296	c	INF160	Inflammatory Bowel Disease 17	16
1297		MCR309	Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia	16
1298		HMR014	Hemorrhagic Shock and Encephalopathy Syndrome	16
1299	c	PLM044	Pulmonary Fibrosis, Familial	16
1300		PRM133	Primary Pulmonary Lymphoma	16
1301		PRM132	Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma	16
1302	c	DFN367	Deafness, Autosomal Recessive 110	16
1303	c	OTF001	Otof-Related Deafness	15
1304		CMB055	Combined Immunodeficiency Due to Crac Channel Dysfunction	15
1305	c	CNG336	Congenital Analbuminemia	15
1306		EPS031	Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly	15
1307		HYD045	Hydroa Vacciniforme-Like Lymphoma	15
1308		BSP001	Basophil Adenoma	14
1309		PRM250	Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified	14
1310	c	ATS335	Autosomal Recessive Nonsyndromic Deafness 105	14
1311	c	DYS194	Dysautonomia-Like Disorder	14
1312	c	ACT198	Acute Myeloid Leukemia with T(6;9)(p23;q34)	14
1313	c	DFN368	Deafness, Autosomal Dominant 74	13
1314	c	DFN369	Deafness, Autosomal Recessive 111	13
1315		STR014	Sternum Lymphoma	13
1316		CHR680	Chronic Lymphoproliferative Disorder of Natural Killer Cells	13
1317		ALK014	Aleukemic Mast Cell Leukemia	13
1318		PLG010	Pelger-Huet Anomaly with Mild Skeletal Anomalies	13
1319	c	SBC006	Subacute Leukemia	12
1320		ACT179	Acute Myeloid Leukemia with 11q23 Abnormalities	12
1321		APP002	Appendix Lymphoma	12
1322		THM022	Thumb Agenesis, Short Stature, and Immunodeficiency	12
1323		RFR001	Refractory Plasma Cell Neoplasm	12
1324		ALP049	Alopecia Antibody Deficiency	12
1325	c	ERY064	Erythrocytosis, Familial, 6	11
1326	c	SBC015	Subacute Monocytic Leukemia	11
1327		ACT186	Acute Megakaryoblastic Leukemia in Down Syndrome	11
1328		PRN002	Paranasal Sinus Lymphoma	11
1329		RCT002	Rectum Lymphoma	11
1330	c	CNG257	Congenital Pulmonary Sequestration	11
1331		CVR004	Cavernous Hemangioma of Colon	10
1332		ALK002	Aleukemic Monocytic Leukemia Cutis	10
1333		BSP005	Basophilic Adenocarcinoma	10
1334	c	CLC009	Clcn7-Related Osteopetrosis	10
1335		ACT165	Acute Megakaryoblastic Leukemia Without Down Syndrome	9
1336		NKD001	Nik Deficiency	9
1337		BND002	B- and T-Cell Mixed Leukemia	9
1338		URT017	Ureteral Lymphoma	9
1339	c	ATS401	Autosomal Dominant Nonsyndromic Deafness 73	9
1340	c	ATS400	Autosomal Dominant Nonsyndromic Deafness 72	9
1341	c	ATS398	Autosomal Recessive Nonsyndromic Deafness 108	9
1342	c	ATS397	Autosomal Recessive Nonsyndromic Deafness 107	9
1343	c	ATS399	Autosomal Dominant Nonsyndromic Deafness 71	9
1344	c	ATS396	Autosomal Recessive Nonsyndromic Deafness 106	9
1345	c	ATS402	Autosomal Dominant Nonsyndromic Deafness 34	9
1346		MGK005	Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13)	8
1347		CCM002	Cecum Lymphoma	8
1348		LYM117	Lymphocytic Hypereosinophilic Syndrome	8
1349		INT035	Intrapelvic Lymph Node Leukemic Reticuloendotheliosis	8
1350	c	PRM130	Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma	7
1351		TCL019	T-Cell Childhood Lymphoblastic Lymphoma	7
1352		SYS063	Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood	6
1353		ACT199	Acute Myeloid Leukemia with Npm1 Somatic Mutations	6
1354		NNM003	Non-Amyloid Monoclonal Immunoglobulin Deposition Disease	6
1355		DRM001	Dermal Unilateral Segmental Cavernous Angioma	6
1356		ACT158	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation	6
1357		LYM119	Lymphoplasmacytic Lymphoma Without Igm Production	6
1358		PRM165	Primary Plasmacytoma of the Bone	6
1359		ACT184	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent	6
1360		DFF030	Diffuse Large B-Cell Lymphoma with Chronic Inflammation	6
1361		ANS007	Anus Lymphoma	6
1362		ACT185	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor	6
1363		PRM142	Primary Oculocerebral Lymphoma	5
1364		CLS046	Classic Hodgkin Lymphoma, Lymphocyte-Rich Type	5
1365	c	FML317	Familial Monosomy 7 Syndrome	5
1366		CLS045	Classic Hodgkin Lymphoma, Mixed Cellularity Type	5
1367		CLS019	Classic Mast Cell Leukemia	5
1368	c	LCL003	Localized Pulmonary Fibrosis	5
1369		LYM096	Lymphoadenopathic Mastocytosis with Eosinophilia	5
1370		PRM148	Primary Lymphoma of the Conjunctiva	5
1371		MTH001	Methotrexate-Associated Lymphoproliferation	4
1372		ANT036	Anti-Hla Hyperimmunization	3
1373		ACQ049	Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease	3
1374		VSC006	Vascular Cancer	51
1375		HYD038	Hydrops Fetalis, Nonimmune	50
1376		ACT119	Acute Promyelocytic Leukemia	60
1377		TWN001	Twin-to-Twin Transfusion Syndrome	49
1378		DHY016	Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema	36
1379		MGK001	Megakaryocytic Leukemia	64
1380		VSC007	Vascular Disease	68
1381		MYL059	Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1	33
1382		SCH028	Schlegelberger Grote Syndrome	7
1383		MST024	Mastocytosis, Cutaneous	64
1384		THR013	Thoracic Outlet Syndrome	55
1385		LKC005	Leukocyte Adhesion Deficiency, Type Iii	54
1386		FML155	Familial Acute Myeloid Leukemia with Mutated Cebpa	12
1387		CNN003	Conn's Syndrome	73
1388	P	LYM118	Lymphoma	70
1389	P	VSC011	Vasculitis	66
1390	c	ART138	Aortic Aneurysm, Familial Abdominal, 1	65
1391		GTL001	Gitelman Syndrome	63
1392		ATR002	Atransferrinemia	52
1393		CHR105	Choreoacanthocytosis	49
1394		IRN004	Iron-Refractory Iron Deficiency Anemia	42
1395	c	ATM104	Autoimmune Vasculitis	35
1396	c	EYL003	Eye Lymphoma	28
1397	P	FML305	Familial Abdominal Aortic Aneurysm	24
1398	c	ART152	Aortic Aneurysm, Familial Abdominal, 3	11
1399	c	ART151	Aortic Aneurysm, Familial Abdominal, 2	10
1400	c	ART108	Aortic Aneurysm, Familial Abdominal, 4	9
1401	P	LNG032	Lung Cancer	99
1402	P	HYP607	Hypercholesterolemia, Familial	81
1403		MLD001	Melioidosis	73
1404	P	LKM002	Leukemia	72
1405	P	RSP003	Respiratory Failure	72
1406	P	BLD134	Bladder Cancer	70
1407	c	JVN004	Juvenile Myelomonocytic Leukemia	68
1408		ART005	Arteriovenous Malformation	65
1409	c	ANM038	Anemia, Autoimmune Hemolytic	61
1410	P	EHL001	Ehlers-Danlos Syndrome	61
1411	P	CRG003	Crigler-Najjar Syndrome, Type I	61
1412		RBR001	Roberts Syndrome	60
1413		TRG002	Trigeminal Neuralgia	60
1414	c	SVR001	Severe Acute Respiratory Syndrome	59
1415		SHG001	Shigellosis	58
1416	P	HYP024	Hypoparathyroidism	54
1417	c	LNG031	Lung Benign Neoplasm	53
1418		MYL004	Myelodysplastic Myeloproliferative Cancer	52
1419		CRB186	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to	51
1420		CHL061	Childhood Leukemia	51
1421		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	50
1422	c	CRG004	Crigler-Najjar Syndrome, Type Ii	50
1423		PRP009	Peripartum Cardiomyopathy	50
1424		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	48
1425	c	HYP734	Hypercholesterolemia, Autosomal Dominant, Type B	45
1426		GLC011	Galactose Epimerase Deficiency	45
1427	c	HYP396	Hypercholesterolemia, Autosomal Recessive	43
1428		NRL004	Neuroleptic Malignant Syndrome	43
1429		PYR037	Pyruvate Carboxylase Deficiency	41
1430	c	BLD008	Bladder Carcinoma in Situ	39
1431		GLC024	Glucose Transporter Type 1 Deficiency Syndrome	34
1432	c	HYP805	Hypercholesterolemia, Autosomal Dominant, 3	32
1433	c	ATM068	Autoimmune Hypoparathyroidism	30
1434		BNM005	Bone Marrow Necrosis	29
1435	c	BLD040	Bladder Benign Neoplasm	24
1436	c	EHL065	Ehlers-Danlos Syndrome, Type V	22
1437	c	EHL090	Ehlers-Danlos Syndrome Type 7b	17
1438	c	TYP003	Type I Ehlers-Danlos Syndrome	12
1439		ACT196	Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2)	12
1440	c	LNG003	Lung Carcinoma in Situ	9
1441	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	9
1442	c	SCN062	Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion	5
1443	P	CLR023	Colorectal Cancer	99
1444		MNT001	Mantle Cell Lymphoma	74
1445		LYM143	Lymphoma, Non-Hodgkin, Familial	73
1446	P	AGM019	Agammaglobulinemia, X-Linked	73
1447	P	FML018	Familial Mediterranean Fever	72
1448	P	FLL037	Follicular Lymphoma	71
1449	c	HMP029	Hemophilia a	70
1450	P	CHR012	Chronic Granulomatous Disease	69
1451		CHR063	Chronic Mucocutaneous Candidiasis	67
1452	c	HMP004	Hemophilia B	66
1453	c	LKM056	Leukemia, Chronic Lymphocytic 2	66
1454	P	LNG028	Long Qt Syndrome	65
1455	P	CHR285	Chronic Myelomonocytic Leukemia	65
1456		IMM174	Immunodeficiency with Hyper-Igm, Type 1	63
1457		DPH001	Diphtheria	63
1458		INT066	Interstitial Lung Disease	63
1459		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	63
1460	P	PLY014	Polycystic Kidney Disease	63
1461	P	ADL010	Adult Respiratory Distress Syndrome	62
1462	c	LNG044	Long Qt Syndrome 1	62
1463	P	OST001	Osteopetrosis	62
1464		SVR066	Severe Combined Immunodeficiency, X-Linked	62
1465		DGR001	Digeorge Syndrome	62
1466	c	ACT210	Acute Respiratory Distress Syndrome	62
1467	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	61
1468	c	ACT073	Acute Leukemia	61
1469		LGG001	Legg-Calve-Perthes Disease	61
1470	P	LYM031	Lymphocytic Leukemia	61
1471		PRT058	Pure Autonomic Failure	61
1472		SPT004	Septic Arthritis	61
1473		RSC001	Rosacea	60
1474	P	CND004	Candidiasis	60
1475	P	BRL012	Bare Lymphocyte Syndrome, Type Ii	60
1476		ART001	Arterial Tortuosity Syndrome	60
1477	P	ANP001	Anaplastic Large Cell Lymphoma	60
1478		CHL028	Childhood Type Dermatomyositis	59
1479	c	FML116	Familial Cold Autoinflammatory Syndrome 1	59
1480	c	BLD124	Bleeding Disorder, Platelet-Type, 11	59
1481		PST046	Post-Transplant Lymphoproliferative Disease	58
1482		MRG003	Marginal Zone B-Cell Lymphoma	57
1483		PRP036	Peripheral T-Cell Lymphoma	57
1484		PRM042	Primary Effusion Lymphoma	57
1485		DPM007	Dopamine Beta-Hydroxylase Deficiency, Congenital	56
1486	P	CNT005	Central Nervous System Lymphoma	56
1487		ERY029	Erythermalgia, Primary	56
1488		PPL049	Papillon-Lefevre Syndrome	55
1489		CTS003	Coats Disease	55
1490	P	CTN015	Cutaneous T Cell Lymphoma	55
1491		CHR081	Choroideremia	55
1492		HYP052	Hyperkalemic Periodic Paralysis	54
1493	P	FNC043	Fanconi Anemia, Complementation Group E	54
1494	c	MLG054	Malignant Histiocytosis	54
1495	c	LNG047	Long Qt Syndrome 2	54
1496	P	ESN008	Eosinophilic Pneumonia	54
1497		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	54
1498	c	ACT020	Acute T Cell Leukemia	54
1499		PLS025	Plasmablastic Lymphoma	54
1500		MNC006	Monoclonal Gammopathy of Uncertain Significance	53
1501		FML026	Familial Lipoprotein Lipase Deficiency	53
1502	P	FML052	Familial Cold Autoinflammatory Syndrome	53
1503	P	PLY017	Polyarteritis Nodosa	52
1504	P	RST002	Restrictive Cardiomyopathy	52
1505		BCL010	B-Cell Expansion with Nfkb and T-Cell Anergy	52
1506	P	RNL007	Renal Tubular Acidosis	52
1507		MYL003	Myeloid Sarcoma	52
1508	c	TCL005	T-Cell Prolymphocytic Leukemia	52
1509		ANG046	Angioimmunoblastic T-Cell Lymphoma	52
1510		FML089	Familial Thoracic Aortic Aneurysm and Dissection	51
1511		GYR004	Gyrate Atrophy of Choroid and Retina	51
1512		CLD007	Cold Agglutinin Disease	51
1513		SPR004	Supravalvular Aortic Stenosis	51
1514		SHH001	Sheehan Syndrome	51
1515		LPD004	Lipoid Nephrosis	51
1516	c	GLY011	Glycogen Storage Disease Vii	51
1517		CHR001	Churg-Strauss Syndrome	51
1518		HRP009	Herpes Simplex Encephalitis	50
1519		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	50
1520		LYM051	Lymphomatoid Granulomatosis	50
1521	c	LYM114	Lymphoproliferative Syndrome, X-Linked, 2	50
1522		RCH001	Richter's Syndrome	50
1523		SBC012	Subcorneal Pustular Dermatosis	50
1524	c	THR071	Thrombocytopenia 1	50
1525	P	KRN004	Kernicterus	50
1526		ERY051	Erythroleukemia, Familial	49
1527		HYP074	Hypersensitivity Vasculitis	49
1528		IRK001	Irak4 Deficiency	49
1529		PRC049	Precursor T-Cell Acute Lymphoblastic Leukemia	49
1530		IMM102	Immunodeficiency 14	49
1531		URC002	Urea Cycle Disorder	49
1532	c	CHR037	Chronic Eosinophilic Pneumonia	49
1533	c	HRD039	Hereditary Amyloidosis	49
1534		SVR010	Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation	48
1535		ACT200	Acute Monoblastic Leukemia	48
1536	c	LKM060	Leukemia, Acute Lymphoblastic 3	48
1537		TCL002	T-Cell Large Granular Lymphocyte Leukemia	47
1538		IMM104	Immunodeficiency with Hyper-Igm, Type 2	47
1539		AMB001	Amebiasis	47
1540	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	47
1541	c	LNG048	Long Qt Syndrome 3	47
1542	c	GMM003	Gamma Heavy Chain Disease	47
1543	c	PSR021	Psoriasis 14, Pustular	47
1544	c	HRM017	Hermansky-Pudlak Syndrome 2	46
1545	P	PLM085	Pulmonary Hemosiderosis	46
1546	P	8P1002	8p11 Myeloproliferative Syndrome	46
1547		IMM015	Immune Defect Due to Absence of Thymus	46
1548		SML008	Small Intestine Lymphoma	46
1549		ACT113	Acute Myeloblastic Leukemia with Maturation	46
1550		PLM068	Pulmonary Vein Stenosis	46
1551	c	HMP022	Hemophagocytic Lymphohistiocytosis, Familial, 1	45
1552	c	MYL058	Myeloproliferative Syndrome, Transient	45
1553		CLL014	Cll/sll	45
1554		CRT046	Corticosteroid-Binding Globulin Deficiency	45
1555		SPL018	Splenomegaly	45
1556		LYM052	Lymphomatoid Papulosis	45
1557		SVR096	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	45
1558		IMM026	Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia	45
1559	P	BCL005	B Cell Prolymphocytic Leukemia	44
1560	c	DFN107	Deafness, Autosomal Dominant 10	44
1561		PYG003	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne	44
1562	c	ADL052	Adult Acute Lymphocytic Leukemia	44
1563	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	44
1564	c	LNG050	Long Qt Syndrome 5	44
1565		PLS016	Plasma Cell Leukemia	43
1566		GLY015	Glycine N-Methyltransferase Deficiency	43
1567		IMM011	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	43
1568		CHR276	Chronic Active Epstein-Barr Virus Infection	43
1569		LVD003	Livedoid Vasculitis	42
1570		IMM105	Immunodeficiency with Hyper-Igm, Type 3	42
1571		HPT070	Hepatosplenic T-Cell Lymphoma	42
1572		LNG013	Lung Lymphoma	42
1573	c	LNG051	Long Qt Syndrome 6	42
1574	c	DFN190	Deafness, Autosomal Dominant 2a	42
1575	c	DFN354	Deafness, Autosomal Dominant 20	41
1576	c	FML015	Familial Nephrotic Syndrome	41
1577	c	PLM150	Pulmonary Alveolar Proteinosis, Acquired	41
1578	c	DFN351	Deafness, Autosomal Dominant 6	41
1579	c	BRL011	Bare Lymphocyte Syndrome, Type I	41
1580	P	THP004	Thiopurines, Poor Metabolism of, 1	41
1581		IMM131	Immunodeficiency with Hyper-Igm, Type 4	41
1582		OST167	Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis	41
1583	c	DFN250	Deafness, Autosomal Recessive 2	40
1584		MTH021	Methylmalonic Acidemia with Homocystinuria	40
1585	c	CLR085	Colorectal Cancer 1	40
1586	c	LNG096	Long Qt Syndrome 15	40
1587	c	DFN197	Deafness, Autosomal Recessive 37	40
1588	c	TCL001	T-Cell Adult Acute Lymphocytic Leukemia	40
1589	c	DFN251	Deafness, Autosomal Dominant 11	40
1590	c	LNG057	Long Qt Syndrome 13	40
1591	c	DFN202	Deafness, Autosomal Dominant 48	40
1592	c	LNG053	Long Qt Syndrome 9	40
1593	c	FNC046	Fanconi Anemia, Complementation Group P	39
1594		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	39
1595	c	DFN097	Deafness, Autosomal Recessive 1a	39
1596		SBC024	Subcutaneous Panniculitis-Like T-Cell Lymphoma	38
1597		CHR286	Chronic Neutrophilic Leukemia	38
1598		VRS001	Virus Associated Hemophagocytic Syndrome	38
1599		GRH001	Gorham's Disease	38
1600		TRN030	Transient Erythroblastopenia of Childhood	38
1601	c	DFN141	Deafness, Autosomal Recessive 12	38
1602	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	38
1603	c	GLY044	Glycogen Storage Disease Ixc	38
1604	c	DFN143	Deafness, Autosomal Recessive 16	37
1605		CNT018	Central Nervous System Leukemia	37
1606		HMC038	Hemochromatosis, Neonatal	37
1607		CLN005	Colon Lymphoma	37
1608	c	DFN092	Deafness, Autosomal Recessive 49	37
1609	c	FML117	Familial Cold Autoinflammatory Syndrome 2	37
1610	c	PSD048	Pseudo-Von Willebrand Disease	37
1611		MTR008	Mature B-Cell Neoplasm	36
1612	c	GLY016	Glycogen Storage Disease Ib	36
1613	c	DFN201	Deafness, Autosomal Recessive 3	36
1614	c	NPH070	Nephrotic Syndrome, Type 6	36
1615	c	DFN120	Deafness, Autosomal Recessive 39	36
1616	c	DFN124	Deafness, Autosomal Recessive 6	36
1617	c	PRM038	Primary Agammaglobulinemia	36
1618	c	DFN137	Deafness, Autosomal Dominant 13	35
1619	c	LNG056	Long Qt Syndrome 12	35
1620		TCL012	T-Cell/histiocyte Rich Large B Cell Lymphoma	35
1621		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	35
1622	c	DFN094	Deafness, Autosomal Dominant 28	34
1623	P	BCL013	B-Cell Adult Acute Lymphocytic Leukemia	34
1624	c	ATS336	Autosomal Recessive Nonsyndromic Deafness 3	34
1625	P	BNL002	Bone Lymphoma	34
1626	c	DFN189	Deafness, Autosomal Dominant 25	34
1627		IMM064	Immunodeficiency, Common Variable, 10	34
1628		BCL008	B-Cell Childhood Acute Lymphoblastic Leukemia	34
1629		LNG004	Langerhans Cell Sarcoma	34
1630	c	DFN093	Deafness, Autosomal Recessive 23	34
1631		PGM029	Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked	34
1632	c	DFN249	Deafness, Autosomal Recessive 93	33
1633	c	DFN130	Deafness, Autosomal Recessive 21	33
1634	c	ACR091	Aicardi-Goutieres Syndrome 4	33
1635	c	ACR092	Aicardi-Goutieres Syndrome 5	33
1636	c	DFN133	Deafness, Autosomal Recessive 9	33
1637	c	DFN121	Deafness, Autosomal Recessive 28	33
1638		BLD028	Bladder Lymphoma	33
1639		GRY001	Gray Zone Lymphoma	33
1640		DFF029	Diffuse Large B-Cell Lymphoma of the Central Nervous System	33
1641		NLL001	Null-Cell Leukemia	32
1642	c	DFN128	Deafness, Autosomal Dominant 36	32
1643	c	THR037	Thrombocytopenia 2	32
1644		RFM001	Roifman Syndrome	32
1645		ACT114	Acute Myeloblastic Leukemia Without Maturation	32
1646		CMB022	Combined Cellular and Humoral Immune Defects with Granulomas	32
1647	c	ACR090	Aicardi-Goutieres Syndrome 2	32
1648	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	32
1649	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	32
1650		MTH056	Methylmalonic Aciduria and Homocystinuria, Cblf Type	31
1651	c	DFN123	Deafness, Autosomal Recessive 79	31
1652		IMM166	Immunodeficiency 27a	31
1653	c	DFN352	Deafness, Autosomal Recessive 8	31
1654	c	DFN029	Deafness, Autosomal Recessive 51	31
1655	c	LKM005	Leukemia, T-Cell, Chronic	30
1656		EXT048	Extranodal Nasal Nk/t Cell Lymphoma	30
1657	c	ALP087	Alpha-Heavy Chain Disease	30
1658	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	30
1659	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	30
1660		IMM185	Immunodeficiency 26 with or Without Neurologic Abnormalities	30
1661	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	30
1662	c	DFN139	Deafness, Autosomal Recessive 29	30
1663	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	30
1664	c	DFN258	Deafness, Autosomal Recessive 48	29
1665	c	DFN244	Deafness, Autosomal Recessive 42	29
1666	c	DFN127	Deafness, Autosomal Recessive 7	29
1667		IMM080	Immunodeficiency 23	29
1668		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	29
1669	c	NPH072	Nephrotic Syndrome, Type 7	29
1670	c	DFN098	Deafness, Autosomal Dominant 3a	29
1671	c	FML253	Familial Cold Autoinflammatory Syndrome 3	29
1672	c	DFN159	Deafness, Autosomal Dominant 5	29
1673		GRN032	Granulomatous Slack Skin Disease	29
1674	c	GLY097	Glycogen Storage Disease Ixb	29
1675	c	DFN262	Deafness, Autosomal Recessive 15	28
1676	c	HMP023	Hemophagocytic Lymphohistiocytosis, Familial, 5	28
1677	c	GLY009	Glycogen Storage Disease Xv	28
1678		CHR375	Chromosome 8p11 Myeloproliferative Syndrome	28
1679	c	DFN178	Deafness, Autosomal Recessive 59	27
1680	c	DFN253	Deafness, Autosomal Recessive 84a	27
1681		CNG016	Congenital Intrinsic Factor Deficiency	27
1682	c	MYH004	Myh9 Related Thrombocytopenia	27
1683	c	LNG098	Long Qt Syndrome 14	27
1684		IMM065	Immunodeficiency 10	27
1685	c	DFN108	Deafness, Autosomal Recessive 77	26
1686		IMM100	Immunoglobulin Kappa Light Chain Deficiency	26
1687		UNC014	Unicentric Castleman Disease	26
1688	c	OST125	Osteopetrosis, Autosomal Dominant 1	26
1689	c	DFN112	Deafness, Autosomal Recessive 63	26
1690	P	BLD120	Bleeding Disorder, Platelet-Type, 8	26
1691		CTN027	Cutaneous Mastocytoma	26
1692		ALP085	Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	26
1693		TCL016	T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy	26
1694	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	26
1695	P	PRC017	Precursor Lymphoblastic Lymphoma/leukemia	26
1696	c	DFN170	Deafness, Autosomal Recessive 31	26
1697	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	25
1698	c	DFN138	Deafness, Autosomal Recessive 53	25
1699		RNL054	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	25
1700		IDP001	Idiopathic Cd4-Positive T-Lymphocytopenia	25
1701		ESN023	Eosinophilia, Familial	25
1702		INF158	Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations	25
1703	c	CLR077	Colorectal Cancer 10	24
1704	c	DFN103	Deafness, Autosomal Recessive 1b	24
1705	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	24
1706	c	DFN247	Deafness, Autosomal Recessive 18a	24
1707	c	SYS066	Systemic Polyarteritis Nodosa	24
1708	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	23
1709		IMM178	Immunodeficiency 31b	23
1710		IMM066	Immunodeficiency 9	23
1711	c	DFN177	Deafness, Autosomal Recessive 5	23
1712		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	23
1713		IMM176	Immunodeficiency with Hyper-Igm, Type 5	23
1714	c	CLR075	Colorectal Cancer 3	23
1715		WRM004	Warm Antibody Hemolytic Anemia	22
1716	c	STN011	Sting-Associated Vasculopathy with Onset in Infancy	22
1717	P	HYP252	Hypochromic Microcytic Anemia with Iron Overload	22
1718	c	CLR087	Colorectal Cancer 12	22
1719		IMM074	Immunodeficiency 16	22
1720		IMM096	Immunodeficiency 30	22
1721		IMM191	Immunodeficiency 56	22
1722	c	FML270	Familial Cold Autoinflammatory Syndrome 4	22
1723		HYP766	Hyperbilirubinemia, Transient Familial Neonatal	22
1724	c	BNM011	Bone Marrow Failure Syndrome 2	22
1725		SLC003	Selective Igm Deficiency Disease	22
1726	c	DFN267	Deafness, Autosomal Dominant 4a	21
1727		IMM099	Immunodeficiency 33	21
1728	c	LNG045	Long Qt Syndrome 10	21
1729		SPC022	Specific Antibody Deficiency	21
1730	c	DFN255	Deafness, Autosomal Dominant 64	21
1731	c	PRC004	Precursor B Lymphoblastic Lymphoma/leukemia	21
1732	c	CRD176	Cardiomyopathy, Familial Restrictive, 1	20
1733	c	DFN132	Deafness, Autosomal Recessive 22	20
1734	c	DFN188	Deafness, Autosomal Recessive 61	20
1735		SBL003	Subleukemic Leukemia	20
1736	c	PRM151	Primary Bone Lymphoma	20
1737		TCL018	T-Cell Childhood Acute Lymphocytic Leukemia	20
1738	c	DFN030	Deafness, Autosomal Recessive 55	19
1739	c	PLY141	Polycystic Kidney Disease 5	19
1740	c	DFN135	Deafness, Autosomal Recessive 91	19
1741		ECT103	Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	19
1742	c	DFN102	Deafness, Autosomal Dominant 3b	18
1743		IMM130	Immunoneurologic Disorder, X-Linked	18
1744	c	LNG046	Long Qt Syndrome 11	18
1745		IMM129	Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis	17
1746		CHR673	Chromosome 14q32 Duplication Syndrome, 700-Kb	17
1747		IMM172	Immunodeficiency 34	17
1748		MLY011	Maleylacetoacetate Isomerase Deficiency	17
1749	c	TCL008	T-Cell Lymphoma 1a	16
1750		ERY007	Erythropoietin Polycythemia	16
1751	c	CRD098	Cardiomyopathy, Familial Restrictive, 3	16
1752		LCH010	Lichtenstein Syndrome	16
1753	c	RNL117	Renal Tubular Acidosis Iii	15
1754		PRM247	Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection	15
1755		LNP001	Loin Pain Hematuria Syndrome	15
1756	c	THP005	Thiopurines, Poor Metabolism of, 2	14
1757		CHL077	Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy	14
1758	c	PRC018	Precursor T-Lymphoblastic Lymphoma/leukemia	14
1759		PRM131	Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma	13
1760	c	LKM052	Leukemia, Chronic Lymphocytic 5	13
1761	c	LKM053	Leukemia, Chronic Lymphocytic 4	13
1762	c	ANP011	Anaplastic Small Cell Lymphoma	12
1763		ISL032	Isolated Bone Marrow Mastocytosis	12
1764	c	LKM050	Leukemia, Chronic Lymphocytic 1	12
1765	c	LKM051	Leukemia, Chronic Lymphocytic 3	12
1766	c	LKM055	Leukemia, Acute Lymphoblastic 2	12
1767	c	PRM222	Primary Polyarteritis Nodosa	12
1768		PNC007	Pancreas Lymphoma	11
1769		CNG530	Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	11
1770		NTR010	Neutropenia Monocytopenia Deafness	11
1771		ADL095	Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies	11
1772		DNZ002	Dianzani Autoimmune Lymphoproliferative Disease	11
1773		AGM003	Agammaglobulinemia, Microcephaly, and Severe Dermatitis	10
1774	c	CRD057	Cardiomyopathy, Familial Restrictive, 2	10
1775	c	SCN047	Secondary Pulmonary Hemosiderosis	10
1776	c	SCN055	Secondary Polyarteritis Nodosa	8
1777		TCL011	T-Cell Immunodeficiency with Epidermodysplasia Verruciformis	8
1778		MYL061	Myeloid Neoplasms Associated with Pdgfrb Rearrangement	8
1779		PRG005	Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma	7
1780		PST004	Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma	7
1781		MYL060	Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement	7
1782		MYL065	Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement	6
1783		MYL066	Myeloid/lymphoid Neoplasm Associated with Pdgfra Rearrangement	6
1784		MYL062	Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities	6
1785	c	FML158	Familial Hemangioma	6
1786		CHL029	Childhood Precursor T-Lymphoblastic Lymphoma/leukemia	6
1787		CNG172	Congenital Vascular Cavernous Malformations	5
1788		VSC022	Vascular Erectile Tumor	5
1789		PRC009	Precursor T-Lymphoblastic Lymphoma/leukemia Refractory	5
1790	c	LKM071	Leukemia, Chronic Lymphocytic	77
1791	P	PHC003	Pheochromocytoma	72
1792	c	MLG157	Malignant Pheochromocytoma	34
1793	P	EXD001	Exudative Vitreoretinopathy	51
1794		MYL064	Myeloproliferative/lymphoproliferative Neoplasms, Familial	22
1795		GST053	Gastric Cancer	79
1796		LYM133	Lymphoma, Hodgkin, Classic	75
1797		PLM134	Pulmonary Fibrosis, Idiopathic	74
1798	c	PLM164	Pulmonary Hypertension, Primary, 1	74
1799		CHD001	Chediak-Higashi Syndrome	68
1800	c	CRD086	Cardiomyopathy, Familial Hypertrophic, 1	65
1801		HYP780	Hypoadrenocorticism, Familial	63
1802	P	LYM113	Lymphoproliferative Syndrome, X-Linked, 1	60
1803		HRY003	Hairy Cell Leukemia	60
1804	P	HYP061	Hypertrophic Cardiomyopathy	58
1805		BNM001	Bone Marrow Cancer	52
1806		LRG008	Large Granular Lymphocyte Leukemia	50
1807		BLS007	Blastic Plasmacytoid Dendritic Cell	46
1808		HST006	Histidinemia	45
1809	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	42
1810	c	CRD232	Cardiomyopathy, Familial Hypertrophic, 6	36
1811	c	CRD085	Cardiomyopathy, Familial Hypertrophic, 4	34
1812	c	CRD065	Cardiomyopathy, Familial Hypertrophic, 2	32
1813	c	CRD079	Cardiomyopathy, Familial Hypertrophic, 9	32
1814	c	CRD219	Cardiomyopathy, Infantile Hypertrophic	31
1815	c	CRD147	Cardiomyopathy, Familial Hypertrophic, 20	27
1816	c	CRD088	Cardiomyopathy, Familial Hypertrophic, 8	23
1817	c	CRD087	Cardiomyopathy, Familial Hypertrophic, 10	22
1818	c	CRD061	Cardiomyopathy, Familial Hypertrophic, 13	22
1819	c	CRD083	Cardiomyopathy, Familial Hypertrophic, 15	21
1820	c	CRD152	Cardiomyopathy, Familial Hypertrophic, 21	21
1821	c	CRD222	Cardiomyopathy, Familial Hypertrophic, 26	21
1822	c	CRD150	Cardiomyopathy, Familial Hypertrophic, 18	21
1823	c	CRD238	Cardiomyopathy, Familial Hypertrophic, 17	20
1824	c	CRD062	Cardiomyopathy, Familial Hypertrophic, 7	20
1825	c	CRD148	Cardiomyopathy, Familial Hypertrophic, 16	19
1826	c	CRD081	Cardiomyopathy, Familial Hypertrophic, 12	19
1827	c	CRD058	Cardiomyopathy, Familial Hypertrophic, 3	19
1828	c	CRD056	Cardiomyopathy, Familial Hypertrophic, 11	19
1829	c	CRD089	Cardiomyopathy, Familial Hypertrophic, 14	19
1830	c	CRD236	Cardiomyopathy, Familial Hypertrophic, 25	18
1831	c	CRD242	Cardiomyopathy, Familial Hypertrophic 27	17
1832	c	CRD168	Cardiomyopathy, Familial Hypertrophic, 19	17
1833	P	FML048	Familial Avascular Necrosis of the Femoral Head	17
1834	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	15
1835	c	HYP486	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training	8
1836	P	CLC063	Celiac Disease 1	74
1837	P	MYC084	Mycobacterium Tuberculosis 1	74
1838		MLT157	Multiple System Atrophy 1	74
1839		MYC006	Mycosis Fungoides	73
1840	P	NJM001	Nijmegen Breakage Syndrome	73
1841	c	EXD008	Exudative Vitreoretinopathy 1	72
1842		CMM004	Common Variable Immunodeficiency	71
1843		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	70
1844		WLS001	Wilson Disease	70
1845		LYM007	Lymphangioleiomyomatosis	68
1846	P	MYL006	Myeloid Leukemia	67
1847		LYM129	Lymphoma, Mucosa-Associated Lymphoid Type	67
1848		SZR001	Sezary's Disease	67
1849		ABT001	Abetalipoproteinemia	67
1850		CNT097	Central Hypoventilation Syndrome, Congenital	66
1851	P	BCL006	B-Cell Lymphomas	65
1852		PRD013	Periodic Fever, Familial, Autosomal Dominant	65
1853		STF001	Stiff-Person Syndrome	65
1854	P	HRM001	Hermansky-Pudlak Syndrome	64
1855	P	PLY011	Polycystic Ovary Syndrome	64
1856		PMS001	Poems Syndrome	64
1857		BLM001	Bloom Syndrome	64
1858	P	VNW001	Von Willebrand's Disease	63
1859		CNC002	Cinca Syndrome	62
1860	P	PTN014	Patent Ductus Arteriosus 1	61
1861		RTH001	Rothmund-Thomson Syndrome	60
1862		FRC011	Fructose Intolerance, Hereditary	60
1863	P	LYM033	Lymphoproliferative Syndrome	59
1864	P	OCL002	Oculocutaneous Albinism	58
1865		GLB001	Gilbert Syndrome	58
1866	c	SVR003	Severe Congenital Neutropenia	58
1867	c	HYP731	Hyperaldosteronism, Familial, Type I	58
1868	P	HYP756	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	57
1869		LYM040	Lymphoblastic Lymphoma	57
1870	c	ALB021	Albinism, Oculocutaneous, Type Ii	57
1871	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	57
1872		DFF005	Diffuse Large B-Cell Lymphoma	56
1873		WHM001	Whim Syndrome	54
1874		ESN020	Eosinophilic Granulomatosis with Polyangiitis	54
1875	P	LFT003	Left Ventricular Noncompaction	53
1876	c	ALB009	Albinism, Oculocutaneous, Type Ia	53
1877		ACT103	Acute Lymphoblastic Leukemia, Childhood	53
1878	P	ERY008	Erythromelalgia	53
1879	c	OST131	Osteopetrosis, Autosomal Dominant 2	53
1880		PRN001	Purine Nucleoside Phosphorylase Deficiency	52
1881	c	HMN021	Human T-Cell Leukemia Virus Type 1	52
1882	c	PRM226	Primary Central Nervous System Lymphoma	52
1883		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	51
1884		HNC001	Henoch-Schoenlein Purpura	51
1885		EPD001	Epidermodysplasia Verruciformis	51
1886		GLY014	Glycerol Kinase Deficiency	51
1887		SCH016	Schimke Immunoosseous Dysplasia	50
1888	c	ALB010	Albinism, Oculocutaneous, Type Ib	49
1889		ENC055	Encephalopathy, Ethylmalonic	48
1890		BRN118	Brain Small Vessel Disease with or Without Ocular Anomalies	48
1891		LGH004	Light Chain Deposition Disease	47
1892		RYN003	Reynolds Syndrome	47
1893	c	LYM107	Lymphoproliferative Syndrome 2	47
1894		VCS001	Vici Syndrome	47
1895	c	OST129	Osteopetrosis, Autosomal Recessive 2	47
1896		FML075	Familial Isolated Hyperparathyroidism	46
1897	c	ACQ017	Acquired Von Willebrand Syndrome	46
1898		GLT007	Glutathione Synthetase Deficiency	45
1899		CSP005	Caspase 8 Deficiency	45
1900	c	PLY105	Polycystic Ovary Syndrome 1	45
1901	c	OST136	Osteopetrosis, Autosomal Recessive 7	44
1902		NTR003	Natural Killer Cell Leukemia	41
1903	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	41
1904		TTR005	Tetrahydrobiopterin Deficiency	41
1905		ANG060	Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps	41
1906	c	HMN022	Human T-Cell Leukemia Virus Type 2	40
1907	c	DFN196	Deafness, Autosomal Dominant 22	40
1908		ENT008	Enteropathy-Associated T-Cell Lymphoma	39
1909		LYM042	Lymphocytic Colitis	39
1910		IMM078	Immunodeficiency 21	39
1911	c	LKM004	Leukemia, B-Cell, Chronic	37
1912	c	HMP014	Hemophagocytic Lymphohistiocytosis, Familial, 4	37
1913	c	GRS012	Griscelli Syndrome, Type 3	37
1914	P	FML156	Familial Hyperaldosteronism	37
1915		GST020	Gastric Antral Vascular Ectasia	37
1916	c	ACR088	Aicardi-Goutieres Syndrome 3	36
1917	c	ATM083	Autoimmune Lymphoproliferative Syndrome, Type Iii	35
1918	c	DFN131	Deafness, Autosomal Dominant 1	35
1919	c	OST134	Osteopetrosis, Autosomal Recessive 6	35
1920		ERY061	Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige	35
1921		MJD001	Majeed Syndrome	34
1922	c	HMP013	Hemophagocytic Lymphohistiocytosis, Familial, 3	33
1923		MLN011	Malonyl-Coa Decarboxylase Deficiency	33
1924	c	HYP600	Hyperaldosteronism, Familial, Type Ii	31
1925	P	SNG014	Singleton-Merten Syndrome	31
1926	c	LYM106	Lymphoproliferative Syndrome 1	31
1927		LYM094	Lymphedema, Primary, with Myelodysplasia	31
1928	c	ATM097	Autoimmune Lymphoproliferative Syndrome, Type Iia	30
1929		IMM179	Immunodeficiency 31c	30
1930	c	HYP438	Hyperaldosteronism, Familial, Type Iii	29
1931		DLF001	Dieulafoy Lesion	28
1932		HPT077	Hepatic Venoocclusive Disease with Immunodeficiency	28
1933		STM015	Stomatin-Deficient Cryohydrocytosis with Neurologic Defects	27
1934	c	BNM010	Bone Marrow Failure Syndrome 1	27
1935	c	OST137	Osteopetrosis, Autosomal Recessive 4	27
1936	c	DFN357	Deafness, Autosomal Recessive 47	26
1937	c	ALB017	Albinism, Oculocutaneous, Type Vi	26
1938		SPN026	Spinal Cord Lymphoma	25
1939		IMM177	Immunodeficiency 54	23
1940	c	LFT017	Left Ventricular Noncompaction 8	21
1941		GRW003	Growth Hormone Insensitivity with Immunodeficiency	21
1942	c	CND037	Candidiasis, Familial, 6	19
1943	c	LFT018	Left Ventricular Noncompaction 10	19
1944	P	FML056	Familial Deafness	17
1945	c	CLC037	Celiac Disease 4	15
1946	c	CLC039	Celiac Disease 13	15
1947	c	CLC048	Celiac Disease 3	15
1948	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	14
1949	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	14
1950		MYL018	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	13
1951	c	MYC055	Mycobacterium Tuberculosis 3	12
1952	c	HMN023	Human T-Cell Leukemia Virus Type 3	11
1953	c	MYC054	Mycobacterium Tuberculosis 2	9
1954		SKL031	Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	9
1955	c	SCN010	Scn9a-Related Inherited Erythromelalgia	6
1956		OMN001	Omenn Syndrome	67
1957	P	HMP007	Hemophilia	61
1958	c	GLY060	Glycogen Storage Disease Ia	61
1959	P	JVN014	Juvenile Polyposis Syndrome	60
1960	c	ALM001	Al Amyloidosis	60
1961		ACT193	Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22)	59
1962		CHR003	Cherubism	57
1963	c	GLY004	Glycogen Storage Disease V	55
1964		HYD012	Hydrops Fetalis	52
1965	P	TRC086	Trichohepatoenteric Syndrome 1	51
1966	c	GLY005	Glycogen Storage Disease Vi	49
1967		PST048	Postural Orthostatic Tachycardia Syndrome	46
1968	c	GRS013	Griscelli Syndrome, Type 1	46
1969		GST093	Gastrointestinal Defects and Immunodeficiency Syndrome	41
1970	c	CND034	Candidiasis, Familial, 2	36
1971	c	HYP373	Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive	36
1972	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	34
1973	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	33
1974	c	GLY059	Glycogen Storage Disease Xiii	23
1975		MTH079	Methylmalonic Acidemia and Homocysteinemia, Cblx Type	22
1976	c	JVN034	Juvenile Polyposis of Infancy	22
1977	c	NTR045	Neutropenia, Chronic Familial	21
1978	c	BNM013	Bone Marrow Failure Syndrome 3	21
1979	c	GLY006	Glycogen Storage Disease Viii	20
1980	c	BNM032	Bone Marrow Failure Syndrome 4	16
1981	c	BNM033	Bone Marrow Failure Syndrome 5	11
1982		ACR006	Aceruloplasminemia	70
1983	P	HYP802	Hypocalcemia, Autosomal Dominant 1	67
1984		MSM014	Mismatch Repair Cancer Syndrome	63
1985		MCK007	Muckle-Wells Syndrome	62
1986	P	ACR001	Aicardi-Goutieres Syndrome	61
1987	c	HRM005	Hermansky-Pudlak Syndrome 1	53
1988	c	HRM006	Hermansky-Pudlak Syndrome 3	51
1989	c	HRM008	Hermansky-Pudlak Syndrome 5	50
1990	c	HRM009	Hermansky-Pudlak Syndrome 6	44
1991	c	HMP012	Hemophagocytic Lymphohistiocytosis, Familial, 2	42
1992	c	HRM007	Hermansky-Pudlak Syndrome 4	36
1993	c	HYP564	Hypocalcemia, Autosomal Dominant 2	20
1994	c	GLY003	Glycogen Storage Disease Iii	59
1995	P	INH011	Inherited Bone Marrow Failure Syndromes	34
1996	c	ATM087	Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency	18
1997	c	BLD132	Bleeding Disorder, Platelet-Type, 21	20
1998	c	GLY007	Glycogen Storage Disease Iv	53