Blood Diseases Category (2171 diseases)

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

#	Family	MCID	Name	MIFTS
1		GLN010	Glanzmann Thrombasthenia	67
2	c	BTT014	Beta-Thalassemia	72
3	P	THL005	Thalassemia	65
4	P	BRN019	Bernard-Soulier Syndrome	60
5		GRY002	Gray Platelet Syndrome	57
6		ALP095	Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	36
7		PLT019	Platelet Disorder, Familial, with Associated Myeloid Malignancy	36
8	P	ESS003	Essential Thrombocythemia	69
9		THR100	Thrombocytopenic Purpura, Autoimmune	67
10	c	THR071	Thrombocytopenia 1	49
11		PRT012	Prothrombin Deficiency	39
12	c	PRT045	Prothrombin-Related Thrombophilia	16
13		MCR359	Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss	41
14	c	THR001	Thrombocytopenia Due to Platelet Alloimmunization	62
15		HRD083	Hereditary Antithrombin Deficiency	32
16	P	THR005	Thrombotic Thrombocytopenic Purpura	62
17	c	ALP101	Alpha-Thalassemia	60
18	c	THR045	Thrombotic Thrombocytopenic Purpura, Congenital	53
19	P	SCK034	Sickle Beta Thalassemia	33
20	P	HMG032	Hemoglobin H Disease	53
21		SCT005	Scott Syndrome	48
22		GHS005	Ghosal Hematodiaphyseal Dysplasia	28
23		BLD053	Blood Platelet Disease	56
24		THR009	Thrombocytopenia-Absent Radius Syndrome	45
25	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	63
26		HMT002	Hematologic Cancer	64
27		ALP100	Alpha-Thalassemia/mental Retardation Syndrome, X-Linked	61
28	c	AMG001	Amegakaryocytic Thrombocytopenia, Congenital	49
29		SCK003	Sickle Cell Anemia	74
30		STR081	Stormorken Syndrome	51
31		DYS127	Dyserythropoietic Anemia and Thrombocytopenia	22
32		QBC001	Quebec Platelet Disorder	35
33		ANT009	Antithrombin Iii Deficiency	58
34		FCT013	Factor V Leiden Thrombophilia	17
35	c	THR092	Thrombophilia Due to Thrombin Defect	69
36		ALP093	Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related	42
37	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	40
38	c	BLD152	Bleeding Disorder, Platelet-Type, 16	37
39	c	THR044	Thrombotic Thrombocytopenic Purpura, Acquired	33
40	c	VNW008	Von Willebrand Disease, Type 3	50
41	c	PSD048	Pseudo-Von Willebrand Disease	43
42	c	BLD123	Bleeding Disorder, Platelet-Type, 13	24
43	c	MYH004	Myh9 Related Thrombocytopenia	28
44		PRT129	Prothrombin Deficiency, Congenital	51
45		HMN035	Hemangioma-Thrombocytopenia Syndrome	41
46		THR068	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	27
47	c	BLD125	Bleeding Disorder, Platelet-Type, 17	26
48		THR051	Thrombocytopenia with Beta-Thalassemia, X-Linked	24
49		BTT013	Beta-Thalassemia, Dominant Inclusion Body Type	26
50		PRT011	Protein C Deficiency	49
51	c	THR037	Thrombocytopenia 2	28
52		ALP013	Alpha-Thalassemia Myelodysplasia Syndrome	27
53	P	BLD120	Bleeding Disorder, Platelet-Type, 8	27
54		STR089	Storage Pool Platelet Disease	47
55		THR101	Thrombocytopenia, Paris-Trousseau Type	24
56	c	BLD121	Bleeding Disorder, Platelet-Type, 15	21
57	c	BLD154	Bleeding Disorder, Platelet-Type, 12	22
58		HRD164	Hereditary Antithrombin Deficiency Type I	6
59		HRD163	Hereditary Antithrombin Deficiency Type 2	6
60	c	BLD124	Bleeding Disorder, Platelet-Type, 11	58
61		HPR003	Heparin-Induced Thrombocytopenia	53
62		PLT004	Platelet Glycoprotein Iv Deficiency	44
63	c	THR102	Thrombocytopenia 5	25
64	P	WSK001	Wiskott-Aldrich Syndrome	76
65	c	THR090	Thrombocythemia 1	38
66		ALP094	Alpha Thalassemia-Intellectual Disability Syndrome Type 1	35
67		PRX008	Paroxysmal Cold Hemoglobinuria	30
68	c	WSK002	Wiskott-Aldrich Syndrome 2	26
69	c	WSK003	Wiskott-Aldrich Syndrome, Autosomal Dominant Form	16
70		SCK020	Sickle Cell - Hemoglobin D Disease	16
71	P	ACQ041	Acquired Amegakaryocytic Thrombocytopenia	24
72		THR097	Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia	23
73	c	BLD133	Bleeding Disorder, Platelet-Type, 20	21
74		THR016	Thrombophlebitis	54
75	c	BLD127	Bleeding Disorder, Platelet-Type, 19	24
76	P	HML033	Hemolytic Uremic Syndrome, Atypical 1	64
77	c	THR082	Thrombophilia Due to Activated Protein C Resistance	61
78		INT078	Intracranial Thrombosis	48
79	c	HML034	Hemolytic Uremic Syndrome, Atypical 3	24
80	c	HML035	Hemolytic Uremic Syndrome, Atypical 2	24
81	c	HML032	Hemolytic Uremic Syndrome, Atypical 4	24
82	c	HML037	Hemolytic Uremic Syndrome, Atypical 5	23
83	c	HML036	Hemolytic Uremic Syndrome, Atypical 6	23
84		BLD141	Blood Group--Kell System	23
85	P	THR014	Thrombocytopenia	64
86	P	HMG026	Hemoglobin E-Beta-Thalassemia Syndrome	22
87		HMG005	Hemoglobinopathy	54
88		FTL012	Fetal and Neonatal Alloimmune Thrombocytopenia	39
89	P	RDL034	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1	25
90	c	THR110	Thrombocytopenia 6	22
91	c	HYP595	Hypertension, Essential	81
92	P	FML187	Familial Hypertension	42
93	c	THR111	Thrombocytopenia 3	36
94	c	MLG039	Malignant Essential Hypertension	29
95	c	BNG021	Benign Essential Hypertension	26
96	c	MLG080	Malignant Secondary Hypertension	25
97		ANM044	Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities	22
98	c	BLD126	Bleeding Disorder, Platelet-Type, 18	20
99	c	THR048	Thrombocytopenia 4	19
100		THR120	Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency	17
101	c	HYP452	Hypertension, Essential 6	11
102		BLD160	Blood Group, John Milton Hagen System	11
103	c	HYP449	Hypertension, Essential 3	11
104	c	HYP450	Hypertension, Essential 4	11
105	c	HYP451	Hypertension, Essential 5	10
106	c	HYP447	Hypertension, Essential 1	10
107	c	HYP454	Hypertension, Essential 8	10
108	c	HYP453	Hypertension, Essential 7	10
109	c	HYP448	Hypertension, Essential 2	10
110	c	BNG034	Benign Secondary Hypertension	7
111		THR024	Thrombosis	64
112		THR116	Thrombocytopenia, Cyclic	26
113		WTL002	Wt Limb-Blood Syndrome	23
114	c	BLD157	Bleeding Disorder, Platelet-Type, 9	19
115		MND006	Mondor Disease	19
116		BLD146	Blood Group, P1pk System	18
117		MLT037	Multifocal Lymphangioendotheliomatosis with Thrombocytopenia	18
118		THR039	Thrombocytopenia Robin Sequence	8
119		ALP029	Alpha-Thalassemia-Abnormal Morphogenesis	3
120		FCT007	Factor Vii Deficiency	60
121		THR004	Thrombocytosis	55
122		MTH064	Methemoglobinemia, Beta-Globin Type	37
123		CMP080	Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy	34
124	c	BLD156	Bleeding Disorder, Platelet-Type, 14	29
125	c	THR086	Thrombocythemia 3	25
126	P	VNW001	Von Willebrand's Disease	62
127		CNT010	Central Nervous System Hematologic Cancer	31
128	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	28
129		BLD167	Blood Group, Kidd System	25
130		PLM033	Pulmonary Embolism	64
131	P	HMP007	Hemophilia	62
132		SCK005	Sickle Cell Disease	57
133		CYC010	Cyclic Neutropenia	54
134	P	BLD051	Blood Coagulation Disease	52
135		CHR466	Chronic Thromboembolic Pulmonary Hypertension	44
136	c	HMG001	Hemoglobin C Disease	43
137		SGT001	Sagittal Sinus Thrombosis	36
138		HPR006	Heparin Cofactor Ii Deficiency	30
139		CVR002	Cavernous Sinus Thrombosis	28
140		VTM009	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1	23
141	c	BLD132	Bleeding Disorder, Platelet-Type, 21	22
142	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	22
143		THR089	Thrombophilia Due to Protein S Deficiency, Autosomal Dominant	21
144		HMG028	Hemoglobin Lepore-Beta-Thalassemia Syndrome	17
145		MCR041	Macrothrombocytopenia Progressive Deafness	13
146	c	HMG027	Hemoglobin C-Beta-Thalassemia Syndrome	12
147		RPH001	Raph Blood Group System	10
148		FMR001	Femoral Vein Thrombophlebitis	10
149		PRM053	Primary Release Disorder of Platelets	10
150		WHT007	White Platelet Syndrome	9
151	P	HMT005	Hematocrit/hemoglobin Quantitative Trait Locus 1	6
152	c	HMT006	Hematocrit/hemoglobin Quantitative Trait Locus 2	6
153	c	HMT007	Hematocrit/hemoglobin Quantitative Trait Locus 3	6
154		RTC002	Reticular Dysgenesis	53
155		BLD054	Blood Protein Disease	43
156	c	HMG003	Hemoglobin E Disease	43
157	c	SCP001	Sc Phocomelia Syndrome	38
158	c	HMG029	Hemoglobin Se Disease	28
159	c	DKP001	Dk Phocomelia Syndrome	23
160	P	PHC014	Phocomelia	22
161	c	THR023	Thrombophilia Due to Thrombomodulin Defect	19
162	c	THR087	Thrombocythemia 2	17
163		VTM010	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2	16
164	c	MCR125	Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related	16
165	c	HMP004	Hemophilia B	66
166		BRG013	Buerger Disease	60
167		RTN193	Retinitis Pigmentosa and Erythrocytic Microcytosis	52
168		PRT018	Portal Vein Thrombosis	50
169		BLD165	Blood Group, Colton System	34
170		BLC004	Blackwater Fever	33
171	c	BLD140	Blood Group, I System	29
172		BLD159	Blood Group, Junior System	28
173		BLD162	Blood Group, Vel System	23
174	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	21
175		BLD155	Blood Group, Cromer System	19
176		PRN017	Perianal Hematoma	19
177		BLD166	Blood Group, Diego System	9
178		BLD158	Blood Group, Chido/rodgers System	8
179		DFC004	Deficiency Anemia	66
180		FCT002	Factor Xi Deficiency	62
181		CRN017	Coronary Thrombosis	47
182		PRT014	Protein S Deficiency	46
183		PLS029	Plasminogen Activator Inhibitor-1 Deficiency	40
184		PLM101	Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis	36
185		QLT001	Qualitative Platelet Defect	33
186		HMG010	Hemoglobinemia	30
187		LTR002	Lateral Sinus Thrombosis	27
188		HMT001	Hematocele of Tunica Vaginalis Testis	25
189		THR067	Thrombophilia Due to Protein C Deficiency, Autosomal Dominant	25
190		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	24
191		SYS059	Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease	18
192		THR043	Thrombomodulin Anomalies, Familial	6
193	P	MNP015	Mean Platelet Volume Quantitative Trait Locus 2	6
194		THR121	Thrombocythemia with Distal Limb Defects	6
195		BDD001	Budd-Chiari Syndrome	59
196		HMT018	Hematopoietic Stem Cell Transplantation	59
197	P	HML001	Hemolytic-Uremic Syndrome	55
198	c	HRM017	Hermansky-Pudlak Syndrome 2	51
199		PST095	Post-Thrombotic Syndrome	51
200		HMG002	Hemoglobinuria	51
201		LMR001	Lemierre's Syndrome	49
202		EVN001	Evans' Syndrome	47
203		ASP030	Aspirin Resistance	47
204		TNP004	Tn Polyagglutination Syndrome	36
205		RFR004	Refractory Hematologic Cancer	32
206	c	HRM020	Hermansky-Pudlak Syndrome 10	30
207		PLT006	Platelet-Activating Factor Acetylhydrolase Deficiency	23
208	c	RDL033	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2	21
209		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	20
210	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	13
211		HMG031	Hemoglobin, High Altitude Adaptation	12
212	c	DPL004	D-Plus Hemolytic Uremic Syndrome	4
213	P	HRM001	Hermansky-Pudlak Syndrome	63
214	c	AFB002	Afibrinogenemia, Congenital	60
215		CMR002	Coumarin Resistance	52
216		FCT006	Factor V Deficiency	49
217		BLD164	Blood Group, Gerbich System	31
218		STC016	Sticky Platelet Syndrome	29
219		RDN004	Radin Blood Group Antigen	28
220		BLD161	Blood Group, Globoside System	28
221		BLD163	Blood Group, Dombrock System	27
222		BLD151	Blood Group--Wright Antigen	26
223		BLD148	Blood Group, Langereis System	24
224	c	BRN132	Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	23
225		BLD144	Blood Group System, Landsteiner-Wiener	21
226		THR088	Thrombophilia Due to Protein S Deficiency, Autosomal Recessive	20
227		THR055	Thrombophilia, X-Linked, Due to Factor Ix Defect	19
228		DSS009	Disseminated Intravascular Coagulation	58
229	P	THR015	Thrombophilia	56
230	c	ANM036	Anemia, Sideroblastic, 1	54
231		SBL008	Sea-Blue Histiocyte Disease	48
232		JCB001	Jacobsen Syndrome	48
233	P	DYS026	Dysfibrinogenemia	47
234		THR035	Thrombasthenia	46
235		CTS005	Catastrophic Antiphospholipid Syndrome	45
236	P	SDR003	Sideroblastic Anemia	43
237		PLT015	Platelet Aggregation, Spontaneous	42
238	c	INH004	Inherited Blood Coagulation Disease	42
239	c	ACQ005	Acquired Thrombocytopenia	41
240		SMH001	Sm-Ahnmd	31
241	c	ATS210	Autosomal Recessive Sideroblastic Anemia	30
242		HMM001	Hemometra	29
243		IVC001	Ivic Syndrome	28
244	c	HMG004	Hemoglobin D Disease	27
245		INT076	Intracranial Sinus Thrombosis	27
246	c	ANM034	Anemia, Sideroblastic, 4	23
247		PLS032	Plasmodium Falciparum Blood Infection Level	20
248		PLT035	Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease	17
249	c	ANK019	Ankrd26-Related Thrombocytopenia	17
250	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	14
251		SVR099	Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency	14
252		HMT019	Hematohidrosis	13
253		ACQ051	Acquired Prothrombin Deficiency	13
254		PRM285	Primitive Portal Vein Thrombosis	12
255		THR098	Thrombocythemia, X-Linked	10
256		THR040	Thrombocytopenia with Elevated Serum Iga and Renal Disease	10
257		FCT024	Factor V Excess with Spontaneous Thrombosis	9
258		ILC001	Iliac Vein Thrombophlebitis	9
259		BLD143	Blood Group--Lke	9
260		KTZ001	Kotzot-Richter Syndrome	8
261		PRS059	Prostaglandin-Endoperoxide Synthase Deficiency	7
262	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	7
263	P	ATS205	Autosomal Thrombocytopenia with Normal Platelets	6
264		MDC003	Medich Giant Platelet Syndrome	6
265	c	MNP019	Mean Platelet Volume Quantitative Trait Locus 4	6
266	c	MNP014	Mean Platelet Volume Quantitative Trait Locus 1	6
267	c	MNP016	Mean Platelet Volume Quantitative Trait Locus 3	6
268	c	MNP020	Mean Platelet Volume Quantitative Trait Locus 5	6
269	c	MNP021	Mean Platelet Volume Quantitative Trait Locus 6	6
270		CYT021	Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder	6
271	c	SCK008	Sickle Delta Beta Thalassemia	6
272		HMG024	Hemoglobinopathy Toms River	6
273	c	HRD112	Hereditary Thrombocytopenia with Normal Platelets	6
274		SKL010	Skeleto Cardiac Syndrome with Thrombocytopenia	3
275		THR038	Thrombocytopenia Cerebellar Hypoplasia Short Stature	2
276	c	HMP029	Hemophilia a	70
277		HYP014	Hyperuricemia	55
278	c	HRM005	Hermansky-Pudlak Syndrome 1	54
279	c	HRM008	Hermansky-Pudlak Syndrome 5	52
280		CHR635	Chromosome 5q Deletion Syndrome	52
281	c	ACQ017	Acquired Von Willebrand Syndrome	45
282	c	HRM007	Hermansky-Pudlak Syndrome 4	38
283		MTH026	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	34
284		HMG009	Hemoglobin Zurich	22
285		GST106	Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets	15
286		RHN014	Rh-Null, Amorph Type	14
287		THR112	Thrombocytopenia, Anemia, and Myelofibrosis	14
288	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	14
289		MLR004	Malaria	84
290	P	MYC007	Myocardial Infarction	78
291		MLD001	Melioidosis	72
292	c	DNG003	Dengue Disease	67
293	P	DNG005	Dengue Virus	62
294	P	NTR004	Neutropenia	60
295		PRP001	Propionic Acidemia	60
296	P	HRD011	Hereditary Spherocytosis	58
297	c	ACT075	Acute Myocardial Infarction	57
298		IRN001	Iron Deficiency Anemia	55
299		PNC001	Pancytopenia	53
300		ARG007	Argininemia	53
301		LKC003	Leukocyte Disease	52
302	P	PRR002	Pure Red-Cell Aplasia	52
303	c	HRM006	Hermansky-Pudlak Syndrome 3	51
304	P	HMC002	Homocystinuria	51
305		VTM033	Vitamin K Deficiency Bleeding	47
306		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	46
307	c	HRM009	Hermansky-Pudlak Syndrome 6	44
308	P	CNG003	Congenital Dyserythropoietic Anemia	42
309	P	HRD012	Hereditary Elliptocytosis	40
310		PLS030	Plasminogen Deficiency, Type I	40
311		MRN001	Marantic Endocarditis	40
312	c	HRM011	Hermansky-Pudlak Syndrome 8	39
313	P	HYP769	Hyperlysinemia, Type I	39
314	c	SPH016	Spherocytosis, Type 4	39
315	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	38
316	c	SPH015	Spherocytosis, Type 3	38
317	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	38
318	c	HRM012	Hermansky-Pudlak Syndrome 9	37
319	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	37
320	c	SPH017	Spherocytosis, Type 5	35
321	c	HRM010	Hermansky-Pudlak Syndrome 7	35
322		ATM012	Autoimmune Disease of Blood	32
323	c	HRD146	Hereditary Methemoglobinemia	32
324	c	MYC058	Myocardial Infarction 2	31
325	c	ELL005	Elliptocytosis 2	30
326	c	ACQ047	Acquired Methemoglobinemia	28
327	c	PST001	Posterior Myocardial Infarction	28
328	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	28
329	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	28
330	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	26
331		BLD153	Blood Group--Swann System	25
332	c	ELL006	Elliptocytosis 3	24
333	c	NTR045	Neutropenia, Chronic Familial	20
334		THR007	Thrombophlebitis Migrans	16
335		SPN433	Spondyloepiphyseal Dysplasia, Kondo-Fu Type	14
336	c	MTH083	Methemoglobinemia, Beta Type	13
337	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
338		ACH007	Achenbach Syndrome	9
339	c	MTH084	Methemoglobinemia, Alpha Type	9
340	c	EPB003	Epb42-Related Hereditary Spherocytosis	7
341	c	ELN001	Elane-Related Neutropenia	6
342	c	HMC017	Homocystinuria Due to Defect in Methylation Cbl E	4
343	c	HMC018	Homocystinuria Due to Defect in Methylation Cbl G	4
344	P	CRN018	Coronary Artery Anomaly	75
345	P	TTR001	Tetralogy of Fallot	70
346	P	DMN001	Diamond-Blackfan Anemia	70
347		ANG054	Angina Pectoris	69
348		ISC004	Ischemia	67
349	P	DBT009	Diabetes Mellitus	67
350	P	HML002	Hemolytic Anemia	64
351		HYP056	Hypoglycemia	64
352	P	PRT008	Proteus Syndrome	64
353	P	SHW006	Shwachman-Diamond Syndrome 1	63
354		GST033	Gestational Diabetes	63
355	c	PRC016	Pre-Eclampsia	61
356	P	END033	Endocarditis	60
357	P	PLY018	Polycythemia	60
358	P	ECL001	Eclampsia	58
359		ORN008	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	58
360		PYR041	Pyruvate Kinase Deficiency of Red Cells	58
361		CRT016	Carotid Artery Disease	58
362	c	VNW010	Von Willebrand Disease, Type 2	57
363	c	PRM012	Primary Polycythemia	56
364	c	SVR005	Severe Pre-Eclampsia	55
365		PNL019	Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities	55
366	P	LDD007	Liddle Syndrome 1	55
367	P	VNS003	Venous Insufficiency	54
368		MNC006	Monoclonal Gammopathy of Uncertain Significance	53
369	c	DMN023	Diamond-Blackfan Anemia 1	53
370		HMC014	Homocysteinemia	53
371		FCT005	Factor Xiii Deficiency	53
372	c	CNG027	Congenital Hemolytic Anemia	53
373		CLC001	Calciphylaxis	52
374		RYN005	Raynaud Phenomenon	52
375	c	ACQ014	Acquired Hemophilia	51
376		BBS001	Babesiosis	51
377		FCT004	Factor Xii Deficiency	50
378	c	CHR431	Chronic Venous Insufficiency	50
379	c	VNW005	Von Willebrand Disease, Type 1	48
380		HPT025	Hepatic Lipase Deficiency	46
381		ISC015	Ischemic Colitis	46
382	P	PRP034	Purpura Fulminans	45
383	c	ACQ042	Acquired Hemophilia a	43
384		HYP003	Hypermethioninemia	40
385	c	PRM225	Primary Thrombocytopenia	39
386	c	ACQ010	Acquired Polycythemia	39
387		CRT004	Carotid Artery Thrombosis	38
388	c	SBC003	Subacute Bacterial Endocarditis	36
389		CRB132	Cerebral Sinovenous Thrombosis	36
390		OVL001	Ovalocytosis, Southeast Asian	35
391		PLT031	Platelet Membrane Fluidity	34
392		PRK005	Prekallikrein Deficiency	31
393	c	CNG223	Congenital Methemoglobinemia	30
394	c	CRN133	Coronary Artery Disease, Autosomal Dominant, 1	30
395	c	TYP035	Type 1 Diabetes Mellitus 11	29
396	P	ATS208	Autosomal Dominant Macrothrombocytopenia	28
397	c	TYP037	Type 1 Diabetes Mellitus 13	28
398		CRN270	Coronary Artery Dissection, Spontaneous	28
399	c	TYP033	Type 1 Diabetes Mellitus 7	27
400		BLD052	Blood Group Incompatibility	26
401	c	TYP028	Type 1 Diabetes Mellitus 2	26
402	c	TYP031	Type 1 Diabetes Mellitus 5	26
403		MYH015	Myh-9 Related Disease	25
404	c	TYP032	Type 1 Diabetes Mellitus 6	25
405	c	TYP036	Type 1 Diabetes Mellitus 12	24
406	c	DMN040	Diamond-Blackfan Anemia 16	24
407		BLD137	Blood Group--Ahonen	24
408	c	TYP027	Type 1 Diabetes Mellitus 10	24
409	c	TYP038	Type 1 Diabetes Mellitus 15	23
410		DHY015	Dehydrated Hereditary Stomatocytosis 2	23
411	c	SHW007	Shwachman-Diamond Syndrome 2	23
412	c	PRT063	Proteus-Like Syndrome	23
413		FRS010	Forsythe-Wakeling Syndrome	22
414	c	TYP039	Type 1 Diabetes Mellitus 17	21
415	c	ATS209	Autosomal Dominant Secondary Polycythemia	20
416	c	CRN304	Coronary Artery Disease, Autosomal Dominant 2	20
417	c	DMN039	Diamond-Blackfan Anemia 17	20
418		TFR002	Tafro Syndrome	20
419	c	DMN030	Diamond-Blackfan Anemia 13	19
420	P	BLD150	Blood Group--Ul System	19
421	c	TYP040	Type 1 Diabetes Mellitus 18	18
422		VNS012	Venous Thoracic Outlet Syndrome	18
423		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	18
424	c	DMN047	Diamond-Blackfan Anemia 18	18
425		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	17
426		EHL066	Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality	17
427	c	LDD008	Liddle Syndrome 2	17
428	c	TYP029	Type 1 Diabetes Mellitus 3	17
429	c	TYP030	Type 1 Diabetes Mellitus 4	16
430	c	DMN045	Diamond-Blackfan Anemia-Like	16
431	c	LDD009	Liddle Syndrome 3	16
432	c	DMN048	Diamond-Blackfan Anemia 19	16
433		PLT016	Platelet Adenylate Cyclase Activity	15
434	c	DMN049	Diamond-Blackfan Anemia 20	15
435		MTH081	Mthfr Gene Variant	15
436	c	TYP034	Type 1 Diabetes Mellitus 8	15
437	P	STM009	Stomatocytosis I	14
438		HRD160	Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors	14
439		WHT020	White Blood Cell Count Quantitative Trait Locus 1	13
440		DNV002	De Novo Thrombotic Microangiopathy After Kidney Transplantation	13
441		PLT028	Platelet Factor 3 Deficiency	12
442	c	THR119	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	11
443	c	ACQ039	Acquired Purpura Fulminans	11
444	P	PLT029	Platelet Groups--Ko System	11
445		THR115	Thrombocyte B	10
446		FYP001	Faye-Petersen-Ward-Carey Syndrome	10
447		OST157	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	10
448		EHL040	Ehlers-Danlos Syndrome, Fibronectinemic Type	10
449		PLT027	Platelet Disorder, Undefined	9
450		PLT034	Platelet Prostacyclin Receptor Defect	9
451		PLS033	Plasma Clot Retraction Factor, Deficiency of	9
452		BLD145	Blood Group--Newfoundland	9
453	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	8
454	c	TTR026	Tetralogy of Fallot Syndrome, Autosomal Recessive	8
455	c	DBT096	Diabetes Mellitus, Congenital Autoimmune	8
456		PLT033	Platelet Signal Processing Defect	8
457		ATH014	Athrombia, Essential	8
458		ANT082	Antithrombin, Familial Hemorrhagic Diathesis Due to	7
459		PLT032	Platelet Responsiveness to Adrenaline, Depressed	7
460		YTB001	Yt Blood Group Antigen	7
461		TRN013	Transient Neonatal Thrombocytopenia	7
462		HMG030	Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain	6
463		THL019	Thalassemia, Beta+, Silent Allele	6
464	c	PLY005	Polycythemia Due to Hypoxia	6
465		UNS001	Unstable Hemoglobin Disease	6
466	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	6
467		HML017	Hemolytic Uremic Syndrome, Atypical, Childhood	5
468		BLD147	Blood Group--Private Systems	4
469		HMT020	Hematopoietic Stem Cell Kinetics, Control of	4
470		MCR178	Macrothrombocytopenia with Mitral Valve Insufficiency	4
471		BLD139	Blood Group--En	3
472		BLD135	Blood Group--Abo Suppressor	3
473		TSY001	Tau Syndrome	3
474		BLD136	Blood Group--Abh Antigen, Type 2	3
475	c	PLT030	Platelet Groups--Pl System	3
476		SCK036	Sickle Cell Disease Associated with an Other Hemoglobin Anomaly	3
477	c	STM013	Stomatocytosis Ii	3
478		MYL069	Myeloma, Multiple	85
479	P	ATX030	Ataxia-Telangiectasia	82
480	c	LKM061	Leukemia, Acute Myeloid	81
481	P	FNC027	Fanconi Anemia, Complementation Group a	81
482		KPS004	Kaposi Sarcoma	77
483		PLY001	Polycythemia Vera	75
484		APL001	Aplastic Anemia	74
485	c	LKM063	Leukemia, Chronic Myeloid	73
486		IMM106	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked	72
487	c	ATM006	Autoimmune Lymphoproliferative Syndrome	72
488	P	AGM001	Agammaglobulinemia	71
489		ART016	Aortic Aneurysm	71
490		CRB039	Cerebrovascular Disease	70
491		MYL009	Myelodysplastic Syndrome	70
492		CNG034	Congestive Heart Failure	70
493		MYL005	Myelofibrosis	69
494		BRK010	Burkitt Lymphoma	69
495	P	WLD002	Waldenstrom Macroglobulinemia	69
496	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	69
497	P	LKM062	Leukemia, Acute Lymphoblastic	68
498	P	HYP098	Hypereosinophilic Syndrome	67
499	P	DYS007	Dyskeratosis Congenita	67
500	P	PRD008	Periodontitis	66
501		TKY002	Takayasu Arteritis	66
502	P	GCH001	Gaucher's Disease	66
503	c	CHR417	Chronic Graft Versus Host Disease	66
504	c	GLY008	Glycogen Storage Disease Ii	66
505		DNG002	Dengue Hemorrhagic Fever	66
506	c	GCH015	Gaucher Disease, Type I	65
507		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	65
508	c	MCL062	Mucolipidosis Ii Alpha/beta	64
509		HYP066	Hyperglycemia	64
510	P	AMY004	Amyloidosis	64
511	c	CNG411	Congenital Disorder of Glycosylation, Type in	64
512	c	ART101	Aortic Valve Disease 2	63
513	c	ACT074	Acute Lymphocytic Leukemia	63
514		PMS001	Poems Syndrome	62
515	c	ADL017	Adult T-Cell Leukemia	62
516		LSC001	Lesch-Nyhan Syndrome	62
517	c	SYS004	Systemic Mastocytosis	62
518		GT001	Gout	62
519		PLS011	Plasmacytoma	62
520	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	62
521	P	GLY013	Glycogen Storage Disease	61
522	P	CRN300	Coronary Heart Disease 1	61
523		HNC001	Henoch-Schoenlein Purpura	61
524	c	GCH016	Gaucher Disease, Type Ii	61
525	P	GLM007	Glomerulonephritis	61
526		HYP810	Hypereosinophilic Syndrome, Idiopathic	61
527	P	HMN010	Hemangioma	61
528	P	MST009	Mastocytosis	61
529		CHK001	Chikungunya	61
530	P	HST010	Histiocytosis	60
531		ATH013	Atherosclerosis Susceptibility	60
532	P	MLG056	Malignant Hyperthermia	60
533	P	ERY058	Erythrocytosis, Familial, 1	60
534	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
535		PRP030	Purpura	60
536	c	PRD040	Periodontitis, Chronic	59
537		NTH001	Netherton Syndrome	59
538		PTN001	Patent Foramen Ovale	59
539	P	HMR003	Hemorrhagic Disease	59
540		ANG020	Angiosarcoma	59
541	c	FNC042	Fanconi Anemia, Complementation Group D2	58
542	c	MCL013	Mucolipidosis Iv	58
543		HRT012	Heart Valve Disease	58
544	P	CTS001	Cutis Laxa	58
545	c	GCH017	Gaucher Disease, Type Iii	58
546	c	ACT135	Acute Graft Versus Host Disease	58
547	P	ACT105	Acute Mountain Sickness	57
548		CTR172	Citrullinemia, Classic	57
549		PRP082	Porphyria, Congenital Erythropoietic	57
550		HLL004	Hellp Syndrome	57
551		INF034	Infective Endocarditis	56
552		FCT001	Factor Viii Deficiency	56
553	c	PSD108	Pseudohypoparathyroidism, Type Ia	56
554		FCT003	Factor X Deficiency	56
555	c	MCL046	Mucolipidosis Iii Alpha/beta	56
556	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	56
557	P	HYP050	Hyperinsulinemic Hypoglycemia	55
558		HYP005	Hypokalemia	55
559	c	AMY009	Amyloidosis Aa	55
560	P	FNC044	Fanconi Anemia, Complementation Group C	54
561		FLT011	Felty Syndrome	54
562	c	PSD066	Pseudohypoparathyroidism, Type Ib	53
563		RTN003	Retinal Ischemia	53
564	c	OST163	Osteopetrosis, Autosomal Recessive 3	52
565	c	ATM082	Autoimmune Lymphoproliferative Syndrome, Type V	52
566		GLC009	Glucosephosphate Dehydrogenase Deficiency	52
567	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	52
568		ESN015	Eosinophilic Fasciitis	52
569	P	PSD015	Pseudohypoparathyroidism	51
570		GRN017	Granulocytopenia	51
571	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	51
572		BRT005	Barth Syndrome	51
573		PRD004	Prediabetes Syndrome	51
574		EXT010	Extramedullary Plasmacytoma	51
575		DRG026	Drug Reaction with Eosinophilia and Systemic Symptoms	51
576	c	ACR116	Aicardi-Goutieres Syndrome 1	50
577		HNN001	Hennekam Syndrome	50
578		CNG028	Congenital Hypoplastic Anemia	50
579	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
580	P	RTN014	Retinal Artery Occlusion	50
581		ESN002	Eosinophilia-Myalgia Syndrome	50
582	P	AFB001	Afibrinogenemia	50
583	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
584	c	MLG069	Malignant Hypertension	50
585		HYP006	Hypertensive Heart Disease	49
586		HYP081	Hypolipoproteinemia	49
587	c	CTS045	Cutis Laxa, Autosomal Dominant 1	49
588	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	49
589		ZKF001	Zika Fever	49
590	P	ART018	Aortic Valve Insufficiency	49
591	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	49
592		HYP088	Hyper-Igd Syndrome	49
593		MCR225	Macrophage Activation Syndrome	49
594		CTS011	Cutis Marmorata Telangiectatica Congenita	49
595		ORT008	Orotic Aciduria	49
596	c	GRS014	Griscelli Syndrome, Type 2	48
597		RVS001	Revesz Syndrome	48
598		VTM002	Vitamin B12 Deficiency	48
599	c	FNC032	Fanconi Anemia, Complementation Group B	48
600		MYD002	Myd88 Deficiency	48
601		PLM035	Pulmonary Eosinophilia	47
602	c	CHR546	Chronic Mountain Sickness	47
603	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	47
604	P	MTH007	Methemoglobinemia	47
605		TRN022	Transcobalamin Ii Deficiency	47
606	c	FNC028	Fanconi Anemia, Complementation Group L	46
607		MCR017	Macrocytic Anemia	46
608	c	SPH013	Spherocytosis, Type 1	46
609	P	PSD003	Pseudohypoaldosteronism	46
610	P	MCL001	Mucolipidosis	45
611		PRS127	Pearson Marrow-Pancreas Syndrome	45
612	c	FNC029	Fanconi Anemia, Complementation Group I	45
613	c	FNC045	Fanconi Anemia, Complementation Group F	45
614		LPP002	Lipoprotein Glomerulopathy	45
615	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
616		HMP001	Hemopericardium	45
617	c	FNC057	Fanconi Anemia, Complementation Group U	44
618		NTR018	Neutrophilia, Hereditary	44
619		MYL013	Myeloperoxidase Deficiency	44
620	P	ANL018	Analbuminemia	44
621	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	43
622		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	43
623		ANM001	Anemia of Prematurity	43
624	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	43
625		NNK001	Nonaka Myopathy	43
626	c	FNC025	Fanconi Anemia, Complementation Group J	43
627	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	43
628		PKL001	Poikiloderma with Neutropenia	43
629		SPT002	Septicemic Plague	42
630		IND002	Indolent Systemic Mastocytosis	42
631	c	MCL016	Mucolipidosis Iii Gamma	42
632	c	FNC023	Fanconi Anemia, Complementation Group N	42
633	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	42
634		MCR018	Microcytic Anemia	42
635	c	SPH014	Spherocytosis, Type 2	42
636	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	42
637		TRC021	Tricuspid Valve Stenosis	42
638	P	PST059	Pustular Psoriasis	42
639		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	42
640	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	41
641	c	CNT028	Central Retinal Artery Occlusion	41
642		LCH001	Leech Infestation	41
643		BLR027	Blue Rubber Bleb Nevus	41
644	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	41
645	c	GLY023	Glycogen Storage Disease Type 0	41
646		TRS021	Triosephosphate Isomerase Deficiency	41
647	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	41
648	c	MLG147	Malignant Hyperthermia 1	41
649	c	GLY098	Glycogen Storage Disease, Type Ixd	41
650		HYP801	Hyperferritinemia with or Without Cataract	41
651	c	PRC031	Preeclampsia/eclampsia 1	41
652	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
653		ESN017	Eosinophilic Granuloma	40
654	c	PSD117	Pseudohypoparathyroidism, Type Ic	40
655	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	40
656		HYP236	Hyperbilirubinemia, Rotor Type	40
657		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	39
658		LKS001	Leukostasis	39
659	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	39
660	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	39
661		OVR093	Overhydrated Hereditary Stomatocytosis	39
662		RFR010	Refractory Anemia	38
663		LTT002	Letterer-Siwe Disease	38
664	c	TRN009	Transient Hypogammaglobulinemia of Infancy	38
665	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	38
666	c	HRD171	Hereditary Pulmonary Alveolar Proteinosis	38
667		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	38
668		BLT003	Blue Toe Syndrome	38
669		HMP018	Hemophilic Arthropathy	38
670		HNZ004	Heinz Body Anemias	38
671		PHS009	Phosphoglycerate Kinase Deficiency	38
672	P	TRN016	Transient Hypogammaglobulinemia	38
673	c	FNC048	Fanconi Anemia, Complementation Group O	38
674	c	FNC062	Fanconi Anemia, Complementation Group S	38
675	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	38
676		HYP223	Hypoplastic Right Heart Syndrome	37
677	P	HVY001	Heavy Chain Disease	37
678	c	OST126	Osteopetrosis, Autosomal Recessive 1	37
679	c	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	37
680	c	MNS014	Monosomy 22	37
681	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
682	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	37
683	c	PSD106	Pseudo-Torch Syndrome 1	37
684		GLY032	Glycosylphosphatidylinositol Deficiency	37
685	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	37
686		AGM004	Agammaglobulinemia, Non-Bruton Type	37
687	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	37
688	c	INF092	Inflammatory Bowel Disease 9	37
689		SHW001	Shwartzman Phenomenon	37
690		INT020	Intravenous Leiomyomatosis	37
691	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	37
692		FNC030	Fanconi Anemia, Complementation Group G	37
693	c	PRM149	Primary Hypereosinophilic Syndrome	37
694	c	GLY016	Glycogen Storage Disease Ib	37
695		CRY019	Cryohydrocytosis	36
696		PLT001	Plethora of Newborn	36
697		MYL002	Myelophthisic Anemia	36
698		NCT003	N-Acetylglutamate Synthase Deficiency	36
699	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
700	c	ATM045	Autoimmune Glomerulonephritis	36
701		HYP001	Hypochromic Microcytic Anemia	36
702		OMS001	Omsk Hemorrhagic Fever	36
703		PYR040	Pyropoikilocytosis, Hereditary	36
704	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	35
705	c	FNC047	Fanconi Anemia, Complementation Group Q	35
706	c	INF087	Inflammatory Bowel Disease 4	35
707	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
708		TKN001	Takenouchi-Kosaki Syndrome	35
709	c	FNC058	Fanconi Anemia, Complementation Group R	35
710		LCN001	Lice Infestation	35
711		PRC051	Paracetamol Poisoning	35
712	c	TRC078	Trichohepatoenteric Syndrome 2	35
713	P	HYP111	Hyperprolinemia	35
714		CNG017	Congenital Nonspherocytic Hemolytic Anemia	34
715	c	FNC052	Fanconi Anemia, Complementation Group T	34
716	c	CNG195	Congenital Disorder of Glycosylation, Type Id	34
717		CMP040	Complement Component 4, Partial Deficiency of	34
718	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	34
719	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
720		FLT009	Folate Malabsorption, Hereditary	34
721	c	PSD104	Pseudohypoparathyroidism, Type Ii	34
722		NNT011	Neonatal Anemia	34
723		GNT005	Giant Hemangioma	34
724		NNS003	Non-Secretory Myeloma	34
725		KLL014	Kelley-Seegmiller Syndrome	34
726	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
727	c	GLY057	Glycogen Storage Disease X	33
728	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	33
729	c	FNC056	Fanconi Anemia, Complementation Group V	33
730		FSR001	Fusariosis	33
731	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	33
732	c	DMN021	Diamond-Blackfan Anemia 6	33
733	c	CNG020	Congenital Hypogammaglobulinemia	33
734		CHL070	Cholesterol Embolism	33
735		FLL042	Folliculotropic Mycosis Fungoides	33
736		PHS014	Phosphoglycerate Kinase 1 Deficiency	33
737		SML011	Smoldering Myeloma	33
738	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	32
739		MYL074	Myelodysplastic Syndrome with Excess Blasts	32
740		RTN072	Retinohepatoendocrinologic Syndrome	32
741	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	32
742		FLC001	Folic Acid Deficiency Anemia	32
743	c	GCH013	Gaucher Disease, Type Iiic	32
744	c	CNG198	Congenital Disorder of Glycosylation, Type Il	32
745	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	32
746	c	CNG199	Congenital Disorder of Glycosylation, Type Im	32
747		SDR009	Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay	31
748	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	31
749	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	31
750	c	CNG188	Congenital Disorder of Glycosylation, Type if	31
751	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
752	c	PSD090	Pseudohypoaldosteronism, Type Iia	31
753	c	ACQ027	Acquired Cutis Laxa	31
754	c	ACR081	Aicardi-Goutieres Syndrome 6	31
755	c	INF086	Inflammatory Bowel Disease 3	31
756		PRP038	Properdin Deficiency, X-Linked	31
757	c	INF089	Inflammatory Bowel Disease 6	30
758		RHS001	Rh Isoimmunization	30
759		PLM049	Plummer Vinson Syndrome	30
760		ACD001	Acidophil Adenoma	30
761		HDG004	Hodgkin's Granuloma	30
762	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	30
763		CYN002	Cyanosis, Transient Neonatal	30
764		CRT005	Cortical Thymoma	30
765		BMB001	Bombay Phenotype	30
766	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	30
767	c	GLY017	Glycogen Storage Disease Ic	30
768	c	OST120	Osteopetrosis, Autosomal Recessive 5	30
769	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
770	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	29
771		ANH003	Anhaptoglobinemia	29
772		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	29
773		6PH001	6-Phosphogluconate Dehydrogenase Deficiency	29
774	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
775	c	HYP248	Hyperprolinemia, Type I	29
776		GLT005	Glutamate Formiminotransferase Deficiency	29
777		PLM007	Pulmonary Aspergilloma	29
778	c	INF088	Inflammatory Bowel Disease 5	28
779	c	GLY043	Glycogen Storage Disease Xii	28
780		HGH020	High Molecular Weight Kininogen Deficiency	28
781		NTR011	Neutrophil-Specific Granule Deficiency	28
782	c	ELL010	Elliptocytosis 1	28
783	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
784	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	28
785	c	DMN017	Diamond-Blackfan Anemia 10	28
786	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	28
787	c	MLG144	Malignant Hemangioma	28
788	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	28
789	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
790	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
791	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	27
792	c	NPH102	Nephrotic Syndrome, Type 14	27
793	c	CTS041	Cutis Laxa, Autosomal Dominant 3	27
794	c	INF075	Inflammatory Bowel Disease 16	26
795	c	PSD107	Pseudo-Torch Syndrome 2	26
796		HMP028	Hemophagocytic Syndrome Associated with an Infection	26
797		RFR007	Refractory Anemia with Excess Blasts in Transformation	26
798	c	DMN022	Diamond-Blackfan Anemia 9	26
799		HYP648	Hypertension and Brachydactyly Syndrome	26
800	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	26
801	c	PSD093	Pseudohypoaldosteronism, Type Iid	25
802		DND003	Dendritic Cell Thymoma	25
803	c	DMN019	Diamond-Blackfan Anemia 4	25
804	c	CRN174	Coronary Heart Disease 2	25
805	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	25
806	c	INF078	Inflammatory Bowel Disease 2	25
807		LFF002	Loeffler Syndrome	25
808		HSH001	Hashimoto-Pritzker Syndrome	25
809	P	PLM064	Pulmonary Sequestration	25
810		CMP041	Complement Factor D Deficiency	24
811		NTR036	Neutropenia, Severe Congenital, X-Linked	24
812		HMC016	Homocystinuria Due to Cbs Deficiency	24
813		IND003	Indolent Myeloma	24
814	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	24
815	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	24
816		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	24
817	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	24
818		NTR013	Neutropenia, Nonimmune Chronic Idiopathic, of Adults	24
819	c	DMN024	Diamond-Blackfan Anemia 7	24
820		FCT032	Factor Xiii, a Subunit, Deficiency of	24
821		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	24
822	c	ACQ016	Acquired Pure Red Cell Aplasia	24
823		TMP008	Tempi Syndrome	23
824	c	AGM022	Agammaglobulinemia 3, Autosomal Recessive	23
825	c	GLY001	Glycogen Storage Disease Ix	23
826	c	HYP597	Hyperprolinemia, Type Ii	23
827		HML052	Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency	23
828	c	FNC061	Fanconi Anemia, Complementation Group W	23
829	c	CRN214	Coronary Heart Disease 5	23
830	P	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	23
831	c	MNS008	Monosomy 21	23
832	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	23
833	c	DMN006	Diamond-Blackfan Anemia 3	23
834	c	DMN020	Diamond-Blackfan Anemia 8	23
835	c	DMN005	Diamond-Blackfan Anemia 2	22
836	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	22
837	c	DMN018	Diamond-Blackfan Anemia 5	22
838		HDG006	Hodgkin's Paragranuloma	22
839	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	22
840	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	22
841		ADL082	Adult Pulmonary Langerhans Cell Histiocytosis	22
842		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	22
843		MXD035	Mixed-Type Autoimmune Hemolytic Anemia	22
844		BRR004	Baroreflex Failure	22
845	c	MLG151	Malignant Hyperthermia 5	22
846	c	DMN029	Diamond-Blackfan Anemia 11	22
847	c	AGM021	Agammaglobulinemia 2, Autosomal Recessive	22
848	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	22
849	P	TRC034	Torch Syndrome	22
850	P	SLF001	Sulfhemoglobinemia	22
851	c	MLG148	Malignant Hyperthermia 2	22
852	c	ATP003	Atp6v0a2-Related Cutis Laxa	22
853		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	22
854	c	INF072	Inflammatory Bowel Disease 11	21
855	P	MNS011	Monosomy 9q22.3	21
856	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	21
857	c	MLG149	Malignant Hyperthermia 3	21
858		RFM002	Roifman-Chitayat Syndrome	21
859	c	AGM023	Agammaglobulinemia 4, Autosomal Recessive	21
860	c	INF162	Inflammatory Bowel Disease 25	21
861	c	AGM020	Agammaglobulinemia 6, Autosomal Recessive	21
862		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	21
863	c	SBC010	Subacute Glomerulonephritis	21
864	c	PSD094	Pseudohypoaldosteronism, Type Iib	21
865	c	MLG150	Malignant Hyperthermia 4	21
866	c	INF090	Inflammatory Bowel Disease 7	21
867		FCT033	Factor Xiii, B Subunit, Deficiency of	20
868		ACT176	Acute Panmyelosis with Myelofibrosis	20
869		FBR023	Fibrinogen Deficiency, Congenital	20
870		EPS038	Episodic Angioedema with Eosinophilia	20
871		HMC036	Homocystinuria Without Methylmalonic Aciduria	20
872	c	DMN028	Diamond-Blackfan Anemia 12	20
873	c	AGM015	Agammaglobulinemia 7, Autosomal Recessive	20
874	c	ANM039	Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	20
875		ATM069	Autoimmune Hemolytic Anemia, Warm Type	20
876	c	PRM150	Primary Localized Amyloidosis	20
877		DRG014	Drug-Induced Autoimmune Hemolytic Anemia	19
878		HVY003	Heavy Chain Deposition Disease	19
879	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	19
880	c	ACQ004	Acquired Hemangioma	19
881	c	PSD068	Pseudohypoaldosteronism, Type Iic	19
882		HHV001	Hhv-6 Encephalitis	19
883	P	PRC045	Preeclampsia/eclampsia 5	19
884	c	GLY093	Glycogen Storage Disease Ixa	19
885	c	TRN053	Transient Pseudohypoaldosteronism	19
886		DSS003	Disseminated Eosinophilic Collagen Disease	19
887	c	INF079	Inflammatory Bowel Disease 20	19
888		PRT025	Protein-Deficiency Anemia	19
889		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	18
890		GLT036	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to	18
891		CTR107	Cataract 13 with Adult I Phenotype	18
892	c	PSR022	Psoriasis 15, Pustular	18
893	c	EFM001	Efemp2-Related Cutis Laxa	18
894	c	PRC034	Preeclampsia/eclampsia 4	18
895	c	CNG336	Congenital Analbuminemia	17
896		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	17
897		TLN012	Telangiectasia Macularis Eruptiva Perstans	17
898		ARG006	Aregenerative Anemia	17
899	c	LTB003	Ltbp4-Related Cutis Laxa	17
900	c	MLG152	Malignant Hyperthermia 6	17
901	c	AGM017	Agammaglobulinemia 8, Autosomal Dominant	17
902		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	17
903		LFR008	L-Ferritin Deficiency	17
904		CGL001	Coagulation Protein Disease	17
905	c	CNG121	Congenital Pulmonary Alveolar Proteinosis	17
906		ADN085	Adenylate Kinase Deficiency, Hemolytic Anemia Due to	17
907	c	SCN051	Secondary Pulmonary Alveolar Proteinosis	16
908	c	AHM002	Ah Amyloidosis	16
909	c	PTN012	Patent Ductus Arteriosus 3	16
910		MNC020	Monoclonal Mast Cell Activation Syndrome	16
911	c	PTN013	Patent Ductus Arteriosus 2	16
912	P	PYR006	Pyridoxine-Responsive Sideroblastic Anemia	16
913		HMR014	Hemorrhagic Shock and Encephalopathy Syndrome	16
914	c	AGM024	Agammaglobulinemia 5, Autosomal Dominant	16
915	c	INF073	Inflammatory Bowel Disease 12	16
916	c	INF080	Inflammatory Bowel Disease 21	15
917		ISL085	Isolated Agammaglobulinemia	15
918		HYP018	Hyperglobulinemic Purpura	15
919		HYP765	Hyperbilirubinemia, Shunt, Primary	15
920		NNT054	Neonatal Alloimmune Neutropenia	15
921	c	INF091	Inflammatory Bowel Disease 8	15
922	c	INF161	Inflammatory Bowel Disease 28	14
923		TRN017	Transient Neonatal Neutropenia	14
924	c	CRN178	Coronary Heart Disease 6	14
925		LGH014	Light and Heavy Chain Deposition Disease	14
926	c	GRN044	Granulomatous Disease, Chronic, Autosomal Dominant Type	14
927	c	INF076	Inflammatory Bowel Disease 18	14
928		STR007	Stress Polycythemia	14
929	c	PSD023	Pseudo-Gaucher Disease	14
930		ISL033	Isolated Delta-Storage Pool Disease	14
931	c	INF083	Inflammatory Bowel Disease 24	13
932	c	INF084	Inflammatory Bowel Disease 26	13
933	c	INF082	Inflammatory Bowel Disease 23	13
934	c	INF085	Inflammatory Bowel Disease 27	13
935	c	INF074	Inflammatory Bowel Disease 15	13
936	c	INF081	Inflammatory Bowel Disease 22	13
937	P	RFR014	Refractory Anemia with Excess Blasts Type 2	13
938	c	CRN177	Coronary Heart Disease 7	13
939		LCL017	Localized Pagetoid Reticulosis	13
940		BLL014	Bullous Diffuse Cutaneous Mastocytosis	12
941	c	MCR162	Macroglobulinemia, Waldenstrom 2	12
942		BLD072	Bleeding Disorder, East Texas Type	11
943		LTH044	Lutheran Null	11
944		MLT143	Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	11
945	c	SCN042	Secondary Hypereosinophilic Syndrome	11
946	c	CNG257	Congenital Pulmonary Sequestration	10
947		PSD083	Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	10
948	c	CRN175	Coronary Heart Disease 4	10
949	c	CRN173	Coronary Heart Disease 8	10
950	c	MYL070	Myeloproliferative Disease, Autosomal Recessive	10
951	c	PRC033	Preeclampsia/eclampsia 3	10
952	c	PRC032	Preeclampsia/eclampsia 2	10
953		CVR003	Cavernous Hemangioma of Face	10
954	c	CNG346	Congenital Aortic Valve Insufficiency	10
955		SML030	Smouldering Systemic Mastocytosis	9
956	c	CRN176	Coronary Heart Disease 9	9
957	c	CRN172	Coronary Heart Disease 3	9
958	c	FBL003	Fbln5-Related Cutis Laxa	9
959		DCN001	Dic in Newborn	9
960		SMP006	Simple Cryoglobulinemia	8
961		CLL008	Cellular Phase Chronic Idiopathic Myelofibrosis	8
962		NDL018	Nodular Urticaria Pigmentosa	8
963		ATY036	Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly	8
964	c	SLF013	Sulfhemoglobinemia, Congenital	8
965	c	HMR041	Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation	8
966		XLN170	X-Linked Mendelian Susceptibility to Mycobacterial Diseases	7
967		PDT039	Pediatric Castleman Disease	7
968		HML043	Hemolytic Disease of the Newborn with Kell Alloimmunization	7
969		CHR058	Chronic Congestive Splenomegaly	7
970		CVR005	Cavernous Hemangioma of Orbit	7
971		UNC009	Unclassified Myelodysplastic/myeloproliferative Disease	7
972	c	RFR015	Refractory Anemia with Excess Blasts Type 1	6
973		ATS105	Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency	6
974		SLT002	Solitary Plasmacytoma of Chest Wall	6
975	c	SSC054	Susceptibility to Localized Juvenile Periodontitis	6
976		PLY128	Polyclonal Hyperviscosity Syndrome	6
977	c	ATS408	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3	6
978		ATS075	Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene	6
979		TYP022	Typical Urticaria Pigmentosa	6
980		PLQ001	Plaque-Form Urticaria Pigmentosa	6
981		CHR062	Chronic Erythremia	5
982		EXT049	Extramedullary Soft Tissue Plasmacytoma	5
983		UNC008	Unclassified Myelodysplastic Syndrome	5
984		INF175	Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome	5
985		HYP626	Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections	4
986		HML010	Hemolytic Anemia Due to Glutathione Reductase Deficiency	4
987		ATS245	Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency	4
988		HYP627	Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections	4
989		PRT104	Protein S Acquired Deficiency	4
990		PHY001	Physiological Polycythemia	4
991		ANT036	Anti-Hla Hyperimmunization	3
992		DHY001	Dehydration Polycythemia	3
993	c	DFN141	Deafness, Autosomal Recessive 12	44
994	c	DFN107	Deafness, Autosomal Dominant 10	44
995	c	DFN200	Deafness, Autosomal Dominant 17	43
996	c	DFN097	Deafness, Autosomal Recessive 1a	43
997	c	DFN250	Deafness, Autosomal Recessive 2	42
998	c	DFN354	Deafness, Autosomal Dominant 20	42
999	c	NNS007	Nonsyndromic Deafness	42
1000	c	DFN203	Deafness, Autosomal Recessive 30	41
1001	c	DFN202	Deafness, Autosomal Dominant 48	41
1002	c	DFN196	Deafness, Autosomal Dominant 22	41
1003	c	DFN117	Deafness, Autosomal Dominant 15	41
1004	c	DFN351	Deafness, Autosomal Dominant 6	41
1005	c	DFN251	Deafness, Autosomal Dominant 11	40
1006	c	DFN197	Deafness, Autosomal Recessive 37	40
1007	c	DFN136	Deafness, Autosomal Dominant 9	39
1008	c	DFN092	Deafness, Autosomal Recessive 49	39
1009	c	DFN353	Deafness, Autosomal Dominant 12	38
1010	c	DFN130	Deafness, Autosomal Recessive 21	38
1011	c	DFN168	Deafness, Autosomal Recessive 26	38
1012	c	DFN124	Deafness, Autosomal Recessive 6	37
1013	c	DFN120	Deafness, Autosomal Recessive 39	37
1014	c	DFN201	Deafness, Autosomal Recessive 3	37
1015	c	DFN093	Deafness, Autosomal Recessive 23	37
1016	c	DFN131	Deafness, Autosomal Dominant 1	37
1017	c	DFN137	Deafness, Autosomal Dominant 13	36
1018	c	DFN133	Deafness, Autosomal Recessive 9	36
1019	c	DFN252	Deafness, Autosomal Recessive 24	35
1020	c	DFN094	Deafness, Autosomal Dominant 28	35
1021	c	DFN330	Deafness, Autosomal Recessive 97	35
1022	c	DFN192	Deafness, Autosomal Dominant 23	35
1023	c	DFN128	Deafness, Autosomal Dominant 36	34
1024	c	DFN249	Deafness, Autosomal Recessive 93	34
1025	c	DFN352	Deafness, Autosomal Recessive 8	34
1026	c	ATS336	Autosomal Recessive Nonsyndromic Deafness 3	34
1027	c	DFN190	Deafness, Autosomal Dominant 2a	34
1028	c	DFN189	Deafness, Autosomal Dominant 25	34
1029	c	DFN114	Deafness, Autosomal Recessive 67	33
1030	c	DFN121	Deafness, Autosomal Recessive 28	33
1031	c	DFN095	Deafness, Autosomal Recessive 25	33
1032	c	DFN148	Deafness, Autosomal Dominant 16	33
1033	c	DFN151	Deafness, Autosomal Dominant 24	33
1034	c	DFN260	Deafness, Autosomal Recessive 89	32
1035	c	DFN184	Deafness, Autosomal Recessive 85	32
1036	c	DFN098	Deafness, Autosomal Dominant 3a	32
1037	c	DFN123	Deafness, Autosomal Recessive 79	32
1038	c	DFN139	Deafness, Autosomal Recessive 29	32
1039	c	DFN183	Deafness, Autosomal Recessive 83	31
1040	c	DFN269	Deafness, Autosomal Recessive 98	31
1041	c	DFN029	Deafness, Autosomal Recessive 51	31
1042	c	DFN360	Deafness, Autosomal Dominant 69	30
1043	c	DFN127	Deafness, Autosomal Recessive 7	30
1044	c	DFN118	Deafness, Autosomal Dominant 44	30
1045	c	DFN258	Deafness, Autosomal Recessive 48	30
1046	c	DFN159	Deafness, Autosomal Dominant 5	30
1047	c	DFN171	Deafness, Autosomal Recessive 33	30
1048	c	DFN240	Deafness, Autosomal Recessive 96	30
1049	c	DFN116	Deafness, Autosomal Recessive 74	29
1050	c	DFN119	Deafness, Autosomal Dominant 50	29
1051	c	ATS006	Autosomal Recessive Nonsyndromic Deafness	29
1052	c	DFN150	Deafness, Autosomal Dominant 21	29
1053	c	DFN262	Deafness, Autosomal Recessive 15	29
1054	c	DFN111	Deafness, Autosomal Recessive 35	29
1055	c	DFN143	Deafness, Autosomal Recessive 16	29
1056	c	DFN178	Deafness, Autosomal Recessive 59	29
1057	c	DFN160	Deafness, Autosomal Dominant 52	29
1058	c	DFN246	Deafness, Autosomal Dominant 51	28
1059	c	DFN244	Deafness, Autosomal Recessive 42	28
1060	c	DFN181	Deafness, Autosomal Recessive 66	28
1061	c	DFN108	Deafness, Autosomal Recessive 77	28
1062	c	DFN112	Deafness, Autosomal Recessive 63	28
1063	c	DFN154	Deafness, Autosomal Dominant 31	28
1064	c	DFN170	Deafness, Autosomal Recessive 31	27
1065	c	ATS005	Autosomal Dominant Nonsyndromic Deafness	27
1066	c	DFN280	Deafness, Autosomal Recessive	26
1067	c	DFN103	Deafness, Autosomal Recessive 1b	26
1068	c	DFN284	Deafness, Autosomal Dominant 67	26
1069	c	DFN248	Deafness, Autosomal Recessive 18b	26
1070	c	ATS380	Autosomal Recessive Nonsyndromic Deafness 36	26
1071	c	DFN357	Deafness, Autosomal Recessive 47	26
1072	c	DFN163	Deafness, Autosomal Dominant 7	26
1073	c	DFN155	Deafness, Autosomal Dominant 41	25
1074	c	DFN138	Deafness, Autosomal Recessive 53	25
1075	c	DFN272	Deafness, Autosomal Dominant 54	25
1076	c	DFN263	Deafness, Autosomal Recessive 68	25
1077	c	DFN253	Deafness, Autosomal Recessive 84a	24
1078	c	DFN247	Deafness, Autosomal Recessive 18a	24
1079	c	DFN166	Deafness, Autosomal Recessive 17	24
1080	c	DFN266	Deafness, Autosomal Dominant 4b	24
1081	c	DFN267	Deafness, Autosomal Dominant 4a	24
1082	c	DFN158	Deafness, Autosomal Dominant 49	24
1083	c	DFN364	Deafness, Autosomal Recessive 57	24
1084	c	DFN177	Deafness, Autosomal Recessive 5	23
1085	c	DFN164	Deafness, Autosomal Recessive 13	23
1086	c	DFN161	Deafness, Autosomal Dominant 53	23
1087	c	DFN259	Deafness, Autosomal Recessive 86	23
1088	c	DFN173	Deafness, Autosomal Recessive 40	23
1089	c	DFN243	Deafness, Autosomal Recessive 88	22
1090	c	DFN156	Deafness, Autosomal Dominant 43	22
1091	c	DFN167	Deafness, Autosomal Recessive 20	22
1092	c	DFN149	Deafness, Autosomal Dominant 18	22
1093	c	DFN261	Deafness, Autosomal Recessive 46	22
1094	c	DFN132	Deafness, Autosomal Recessive 22	22
1095	c	DFN188	Deafness, Autosomal Recessive 61	22
1096	c	DFN180	Deafness, Autosomal Recessive 65	22
1097	c	DFN162	Deafness, Autosomal Dominant 59	21
1098	c	DFN271	Deafness, Autosomal Dominant 58	21
1099	c	DFN281	Deafness, Autosomal Recessive 103	21
1100	c	DFN367	Deafness, Autosomal Recessive 110	21
1101	c	DFN099	Deafness, Autosomal Dominant 2b	21
1102	c	DFN328	Deafness, Autosomal Dominant 72	21
1103	c	DFN255	Deafness, Autosomal Dominant 64	21
1104	c	DFN030	Deafness, Autosomal Recessive 55	21
1105	c	DFN169	Deafness, Autosomal Recessive 27	21
1106	c	DFN254	Deafness, Autosomal Recessive 84b	21
1107	c	DFN333	Deafness, Autosomal Dominant 73	20
1108	c	DFN369	Deafness, Autosomal Recessive 111	20
1109	c	DFN172	Deafness, Autosomal Recessive 38	20
1110	c	DFN153	Deafness, Autosomal Dominant 30	20
1111	c	DFN257	Deafness, Autosomal Dominant 33	20
1112	c	DFN174	Deafness, Autosomal Recessive 44	20
1113	c	DFN361	Deafness, Autosomal Recessive 106	20
1114	c	DFN157	Deafness, Autosomal Dominant 47	20
1115	c	ATS409	Autosomal Recessive Nonsyndromic Deafness 32	20
1116	c	DFN325	Deafness, Autosomal Recessive 108	20
1117	c	DFN368	Deafness, Autosomal Dominant 74	20
1118	c	DFN265	Deafness, Autosomal Recessive 76	20
1119	c	DFN273	Deafness, Autosomal Recessive 101	20
1120	c	DFN165	Deafness, Autosomal Recessive 14	20
1121	c	DFN329	Deafness, Autosomal Dominant 66	20
1122	c	DFN278	Deafness, Autosomal Dominant 65	20
1123	c	DFN277	Deafness, Autosomal Recessive 102	20
1124	c	DFN371	Deafness, Autosomal Recessive 112	20
1125	c	DFN179	Deafness, Autosomal Recessive 62	20
1126	c	DFN182	Deafness, Autosomal Recessive 71	20
1127	c	DFN175	Deafness, Autosomal Recessive 45	20
1128	c	DFN242	Deafness, Autosomal Recessive 70	19
1129	c	DFN283	Deafness, Autosomal Recessive 104	19
1130	c	DFN335	Deafness, Autosomal Dominant 71	19
1131	c	DFN135	Deafness, Autosomal Recessive 91	19
1132	c	DFN134	Deafness, Autosomal Dominant 40	19
1133	c	DFN102	Deafness, Autosomal Dominant 3b	19
1134	c	DFN152	Deafness, Autosomal Dominant 27	19
1135	c	DFN274	Deafness, Autosomal Dominant 56	19
1136	c	DFN365	Deafness, Autosomal Recessive 109	19
1137	c	DFN327	Deafness, Autosomal Dominant 70	19
1138	c	DFN337	Deafness, Autosomal Recessive 107	19
1139	c	DFN336	Deafness, Autosomal Dominant 68	18
1140	P	FML056	Familial Deafness	18
1141	c	ATS381	Autosomal Recessive Nonsyndromic Deafness 86	17
1142	c	DFN373	Deafness, Autosomal Recessive 113	15
1143	c	OTF001	Otof-Related Deafness	14
1144	c	DFN374	Deafness, Autosomal Recessive 100	14
1145	c	ATS401	Autosomal Dominant Nonsyndromic Deafness 73	8
1146	c	ATS396	Autosomal Recessive Nonsyndromic Deafness 106	8
1147	c	ATS402	Autosomal Dominant Nonsyndromic Deafness 34	8
1148	c	ATS400	Autosomal Dominant Nonsyndromic Deafness 72	8
1149	c	ATS397	Autosomal Recessive Nonsyndromic Deafness 107	8
1150	c	ATS399	Autosomal Dominant Nonsyndromic Deafness 71	8
1151	c	ATS398	Autosomal Recessive Nonsyndromic Deafness 108	8
1152		ACT119	Acute Promyelocytic Leukemia	59
1153		MCL009	Mcleod Syndrome	48
1154		TWN001	Twin-to-Twin Transfusion Syndrome	50
1155		DHY016	Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema	35
1156		MGK001	Megakaryocytic Leukemia	64
1157		GLT018	Glut1 Deficiency Syndrome 1	38
1158		STR067	Stroke, Ischemic	82
1159		MYL031	Myeloproliferative Neoplasm	64
1160	P	ANT006	Antiphospholipid Syndrome	60
1161		URN003	Urinary Schistosomiasis	50
1162	c	ANT041	Antiphospholipid Syndrome, Familial	26
1163	c	ERY067	Erythrocytosis, Familial, 8	21
1164	c	ERY032	Erythrocytosis, Familial, 4	18
1165		SCH028	Schlegelberger Grote Syndrome	6
1166	P	PLM037	Pulmonary Hypertension	77
1167		VRC005	Varicose Veins	66
1168		MST024	Mastocytosis, Cutaneous	62
1169		THR013	Thoracic Outlet Syndrome	56
1170		LKC005	Leukocyte Adhesion Deficiency, Type Iii	55
1171		CRB138	Core Binding Factor Acute Myeloid Leukemia	49
1172	c	PLM127	Pulmonary Hypertension, Primary, 3	35
1173		CYT019	Cytogenetically Normal Acute Myeloid Leukemia	35
1174	c	PLM128	Pulmonary Hypertension, Primary, 2	30
1175	c	PLM121	Pulmonary Hypertension, Primary, 4	28
1176	c	ERY063	Erythrocytosis, Familial, 5	17
1177	c	PLM169	Pulmonary Hypertension, Primary, Autosomal Recessive	14
1178		CNN003	Conn's Syndrome	70
1179	c	ART138	Aortic Aneurysm, Familial Abdominal, 1	66
1180	P	VSC011	Vasculitis	66
1181		GTL001	Gitelman Syndrome	62
1182		MYL004	Myelodysplastic Myeloproliferative Cancer	54
1183		ATR002	Atransferrinemia	50
1184	c	ERY048	Erythrocytosis, Familial, 2	50
1185		CHR105	Choreoacanthocytosis	49
1186		CLP006	Clopidogrel Resistance	45
1187		VSC008	Vascular Hemostatic Disease	43
1188		IRN004	Iron-Refractory Iron Deficiency Anemia	42
1189	c	DYS165	Dysfibrinogenemia, Congenital	40
1190	c	ATM104	Autoimmune Vasculitis	36
1191	P	FML305	Familial Abdominal Aortic Aneurysm	24
1192	c	ART151	Aortic Aneurysm, Familial Abdominal, 2	12
1193	c	ART152	Aortic Aneurysm, Familial Abdominal, 3	11
1194	c	ART108	Aortic Aneurysm, Familial Abdominal, 4	9
1195	P	HYP607	Hypercholesterolemia, Familial	81
1196	c	CHR089	Chronic Kidney Failure	73
1197		PRP027	Peripheral Vascular Disease	72
1198	c	JVN004	Juvenile Myelomonocytic Leukemia	70
1199		LNG099	Lung Disease	70
1200	c	ART115	Aortic Valve Disease 1	69
1201	P	CRD119	Cardiac Arrest	66
1202		PRT058	Pure Autonomic Failure	65
1203		HYP020	Hyperprolactinemia	63
1204	P	EHL001	Ehlers-Danlos Syndrome	63
1205	P	ABD014	Abdominal Obesity-Metabolic Syndrome 1	61
1206	P	CRG003	Crigler-Najjar Syndrome, Type I	61
1207		LKC009	Leukocyte Adhesion Deficiency, Type I	60
1208		IRN002	Iron Metabolism Disease	60
1209		TRG002	Trigeminal Neuralgia	60
1210		INT030	Intracranial Aneurysm	59
1211	c	ANM038	Anemia, Autoimmune Hemolytic	59
1212		TRN015	Transient Cerebral Ischemia	59
1213		SHG001	Shigellosis	59
1214		LYM027	Lymphopenia	57
1215	c	TYR012	Tyrosinemia, Type I	55
1216		RBR001	Roberts Syndrome	55
1217	P	HYP024	Hypoparathyroidism	55
1218		CVR006	Cavernous Hemangioma	55
1219		HYP074	Hypersensitivity Vasculitis	54
1220	c	ACT071	Acute Kidney Failure	54
1221	c	CRG004	Crigler-Najjar Syndrome, Type Ii	54
1222		NRL004	Neuroleptic Malignant Syndrome	52
1223		CRB186	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to	52
1224		PRP009	Peripartum Cardiomyopathy	51
1225		RSS025	Ras-Associated Autoimmune Leukoproliferative Disorder	50
1226		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	50
1227		CRY004	Cryoglobulinemia	50
1228		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	49
1229		GLC011	Galactose Epimerase Deficiency	49
1230	P	TYR004	Tyrosinemia	48
1231	c	HYP396	Hypercholesterolemia, Autosomal Recessive	47
1232	c	HYP734	Hypercholesterolemia, Autosomal Dominant, Type B	45
1233	c	TYR011	Tyrosinemia, Type Iii	43
1234		PYR037	Pyruvate Carboxylase Deficiency	40
1235	c	FML001	Familial Atrial Fibrillation	40
1236		GLC024	Glucose Transporter Type 1 Deficiency Syndrome	36
1237	c	HYP805	Hypercholesterolemia, Autosomal Dominant, 3	35
1238	c	PST106	Post-Cardiac Arrest Syndrome	33
1239	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	30
1240		MYT019	May-Thurner Syndrome	29
1241	c	ABD013	Abdominal Obesity-Metabolic Syndrome 3	27
1242	c	ATM068	Autoimmune Hypoparathyroidism	26
1243		UTR057	Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis	25
1244	c	EHL065	Ehlers-Danlos Syndrome, Type V	24
1245		PRT112	Portal Hypertension, Noncirrhotic	22
1246	c	EHL091	Ehlers-Danlos Syndrome Type 7a	22
1247	c	ATR061	Atrial Fibrillation, Familial, 10	21
1248	c	ATR038	Atrial Fibrillation, Familial, 3	21
1249	c	ATR035	Atrial Fibrillation, Familial, 6	21
1250		ATM091	Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	21
1251	c	ATR059	Atrial Fibrillation, Familial, 11	20
1252	c	ATR026	Atrial Fibrillation, Familial, 1	20
1253	c	ATR072	Atrial Fibrillation, Familial, 13	20
1254	c	ERY031	Erythrocytosis, Familial, 3	20
1255	c	ATR037	Atrial Fibrillation, Familial, 7	19
1256	c	ATR039	Atrial Fibrillation, Familial, 4	19
1257	c	ATR069	Atrial Fibrillation, Familial, 12	19
1258	c	ATR068	Atrial Fibrillation, Familial, 14	18
1259	c	TYP003	Type I Ehlers-Danlos Syndrome	16
1260	c	ATR070	Atrial Fibrillation, Familial, 9	16
1261		ANG063	Angiolipomatosis, Familial	15
1262	c	EHL088	Ehlers-Danlos Syndrome Type 2	14
1263	c	ATR027	Atrial Fibrillation, Familial, 5	14
1264	c	ATR025	Atrial Fibrillation, Familial, 2	13
1265	c	ATR028	Atrial Fibrillation, Familial, 8	13
1266		ACT196	Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2)	11
1267	c	RNL016	Renal Infectious Disease	11
1268	c	RNR002	Ren-Related Kidney Disease	10
1269	c	EHL090	Ehlers-Danlos Syndrome Type 7b	10
1270	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	10
1271	c	SCN062	Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion	7
1272	P	RHM011	Rheumatoid Arthritis	81
1273		ULC004	Ulcerative Colitis	80
1274	P	LVR013	Liver Disease	76
1275		MNT001	Mantle Cell Lymphoma	73
1276	P	FML018	Familial Mediterranean Fever	73
1277	P	GRF003	Graft-Versus-Host Disease	71
1278	P	KDN018	Kidney Disease	71
1279		AGM019	Agammaglobulinemia, X-Linked	70
1280	c	JVN010	Juvenile Rheumatoid Arthritis	70
1281	P	PLM036	Pulmonary Fibrosis	70
1282	P	ATR011	Atrial Fibrillation	69
1283	P	CHR012	Chronic Granulomatous Disease	69
1284	P	FLL037	Follicular Lymphoma	67
1285		OST003	Osteonecrosis	67
1286	P	LNG028	Long Qt Syndrome	66
1287	P	TXP001	Toxoplasmosis	66
1288	P	ACR001	Aicardi-Goutieres Syndrome	65
1289		CHR063	Chronic Mucocutaneous Candidiasis	65
1290		INT066	Interstitial Lung Disease	65
1291	c	LNG044	Long Qt Syndrome 1	64
1292	P	CHR285	Chronic Myelomonocytic Leukemia	64
1293		SVR066	Severe Combined Immunodeficiency, X-Linked	64
1294	P	CND004	Candidiasis	63
1295	P	NPH012	Nephrotic Syndrome	63
1296	P	OST001	Osteopetrosis	63
1297		DPH001	Diphtheria	63
1298		LGG001	Legg-Calve-Perthes Disease	62
1299		CYT008	Cytomegalovirus Infection	62
1300		IMM174	Immunodeficiency with Hyper-Igm, Type 1	62
1301	P	PLY014	Polycystic Kidney Disease	62
1302		SPT004	Septic Arthritis	61
1303	c	GLY003	Glycogen Storage Disease Iii	61
1304	P	BRL012	Bare Lymphocyte Syndrome, Type Ii	61
1305	P	BRG001	Brugada Syndrome	61
1306	c	ATS347	Autosomal Dominant Polycystic Kidney Disease	61
1307		DGR001	Digeorge Syndrome	61
1308		ALP042	Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity	61
1309		DBT084	Diabetes Mellitus, Ketosis-Prone	60
1310	P	ANP001	Anaplastic Large Cell Lymphoma	60
1311	c	INF071	Inflammatory Bowel Disease 1	60
1312	P	WLF004	Wolfram Syndrome	60
1313		DBT010	Diabetic Neuropathy	60
1314		NTR005	Nutritional Deficiency Disease	59
1315		ART001	Arterial Tortuosity Syndrome	59
1316		CHL028	Childhood Type Dermatomyositis	59
1317		PST046	Post-Transplant Lymphoproliferative Disease	59
1318	P	MNC007	Monocytic Leukemia	58
1319		MRG003	Marginal Zone B-Cell Lymphoma	58
1320		PRM042	Primary Effusion Lymphoma	58
1321		BLD044	Bladder Disease	57
1322		PLC005	Placental Insufficiency	57
1323	c	GLY005	Glycogen Storage Disease Vi	57
1324	c	LKM070	Leukemia, Acute Monocytic	57
1325	P	INF037	Inflammatory Bowel Disease	56
1326		PRP036	Peripheral T-Cell Lymphoma	56
1327	c	GLY004	Glycogen Storage Disease V	56
1328	c	CNG021	Congenital Toxoplasmosis	56
1329	P	CTN015	Cutaneous T Cell Lymphoma	56
1330		ATN002	Autonomic Nervous System Disease	56
1331	P	FNC043	Fanconi Anemia, Complementation Group E	56
1332	c	LNG047	Long Qt Syndrome 2	56
1333	c	WLF013	Wolfram Syndrome 1	55
1334	P	ESN008	Eosinophilic Pneumonia	55
1335		RTC009	Reticulum Cell Sarcoma	55
1336	P	LYM025	Lymphedema	54
1337		PPL049	Papillon-Lefevre Syndrome	54
1338		CHR081	Choroideremia	54
1339	c	GLY007	Glycogen Storage Disease Iv	54
1340		HYP052	Hyperkalemic Periodic Paralysis	54
1341	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
1342		NPH091	Nephrolithiasis, Calcium Oxalate	54
1343		VRC001	Varicocele	54
1344		BLR008	Bilirubin Metabolic Disorder	54
1345		CTS003	Coats Disease	54
1346		ATY042	Atypical Chronic Myeloid Leukemia	53
1347		PLS025	Plasmablastic Lymphoma	53
1348		LG4001	Lig4 Syndrome	53
1349		MYL003	Myeloid Sarcoma	53
1350	P	FML052	Familial Cold Autoinflammatory Syndrome	53
1351	P	TCL004	T-Cell Leukemia	53
1352	c	ACT134	Acute Liver Failure	53
1353		CHR563	Chronic Eosinophilic Leukemia	53
1354		SPR004	Supravalvular Aortic Stenosis	52
1355	c	RHM021	Rheumatoid Arthritis, Systemic Juvenile	52
1356	c	GLY011	Glycogen Storage Disease Vii	52
1357		RCH001	Richter's Syndrome	52
1358	P	PLG001	Pelger-Huet Anomaly	52
1359	c	CHR418	Chronic Leukemia	52
1360	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	52
1361		ANG046	Angioimmunoblastic T-Cell Lymphoma	52
1362		LPD004	Lipoid Nephrosis	51
1363	P	RNL007	Renal Tubular Acidosis	51
1364		INT054	Intraocular Lymphoma	51
1365	P	MGL001	Megaloblastic Anemia	51
1366		BCL010	B-Cell Expansion with Nfkb and T-Cell Anergy	51
1367		SPL012	Splenic Disease	50
1368		SPL004	Splenic Marginal Zone Lymphoma	50
1369		GYR004	Gyrate Atrophy of Choroid and Retina	50
1370	P	PLY017	Polyarteritis Nodosa	50
1371	c	FNC024	Fanconi Anemia, Complementation Group D1	50
1372		INT017	Intestinal Schistosomiasis	50
1373		CLD007	Cold Agglutinin Disease	50
1374		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	50
1375		LYM051	Lymphomatoid Granulomatosis	50
1376		HRP009	Herpes Simplex Encephalitis	50
1377	c	GLY060	Glycogen Storage Disease Ia	50
1378	P	PLM006	Pulmonary Alveolar Proteinosis	50
1379		OBS037	Obesity-Hypoventilation Syndrome	50
1380	c	LNG048	Long Qt Syndrome 3	50
1381	c	NPH055	Nephrotic Syndrome, Type 1	50
1382		SHH001	Sheehan Syndrome	50
1383		URC002	Urea Cycle Disorder	49
1384		IMM102	Immunodeficiency 14	49
1385	c	ALK016	Alk-Negative Anaplastic Large Cell Lymphoma	49
1386	c	CHR037	Chronic Eosinophilic Pneumonia	49
1387		PRL017	Prolymphocytic Leukemia	49
1388		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	49
1389		ACT200	Acute Monoblastic Leukemia	49
1390		MST002	Mast-Cell Leukemia	49
1391		FML026	Familial Lipoprotein Lipase Deficiency	49
1392		HDG002	Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance	49
1393		HYP063	Hypersplenism	49
1394		SVR010	Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation	49
1395		RDD003	Riddle Syndrome	48
1396	c	MYL058	Myeloproliferative Syndrome, Transient	48
1397	c	HRD039	Hereditary Amyloidosis	48
1398		IRK001	Irak4 Deficiency	48
1399		FML089	Familial Thoracic Aortic Aneurysm and Dissection	48
1400		AMB001	Amebiasis	48
1401	P	KRN004	Kernicterus	48
1402	c	GMM003	Gamma Heavy Chain Disease	48
1403		IMM104	Immunodeficiency with Hyper-Igm, Type 2	48
1404		SPL018	Splenomegaly	47
1405	c	MGL018	Megaloblastic Anemia 1	47
1406	c	INF145	Infantile Liver Failure Syndrome 1	47
1407	c	PSR021	Psoriasis 14, Pustular	47
1408	P	MTH008	Methylmalonic Acidemia	47
1409		SBC012	Subcorneal Pustular Dermatosis	47
1410		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	47
1411		PRP056	Porphyria, Acute Hepatic	47
1412	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	46
1413		AGG002	Aggressive Systemic Mastocytosis	46
1414		FLL013	Follicular Dendritic Cell Sarcoma	46
1415		LVD003	Livedoid Vasculitis	46
1416		PLM068	Pulmonary Vein Stenosis	46
1417	c	FLL041	Follicular Lymphoma 1	46
1418		DPM001	Dopamine Beta-Hydroxylase Deficiency	45
1419	P	DYS021	Dysautonomia	45
1420		RTN021	Retinal Vascular Occlusion	45
1421		CRT046	Corticosteroid-Binding Globulin Deficiency	45
1422		CMP004	Complement Factor I Deficiency	45
1423	c	BRG005	Brugada Syndrome 1	45
1424		SVR096	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	45
1425		LYM052	Lymphomatoid Papulosis	44
1426	P	BCL005	B Cell Prolymphocytic Leukemia	44
1427		SVR095	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency	44
1428	c	LNG050	Long Qt Syndrome 5	44
1429	P	PLM085	Pulmonary Hemosiderosis	44
1430		CHR276	Chronic Active Epstein-Barr Virus Infection	44
1431		FDL002	Food Allergy	44
1432		IMM184	Immunodeficiency 17	44
1433	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	44
1434		SLT001	Solitary Osseous Plasmacytoma	44
1435		IMM011	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	44
1436		THY009	Thyroid Lymphoma	43
1437		PLS016	Plasma Cell Leukemia	43
1438		NDL021	Nodular Lymphocyte Predominant Hodgkin Lymphoma	43
1439	c	LNG051	Long Qt Syndrome 6	43
1440		INT038	Interdigitating Dendritic Cell Sarcoma	43
1441		NDL024	Nodal Marginal Zone Lymphoma	43
1442	c	FML015	Familial Nephrotic Syndrome	43
1443		ACT113	Acute Myeloblastic Leukemia with Maturation	43
1444	P	PRM293	Primary Mediastinal B-Cell Lymphoma	43
1445		IMM015	Immune Defect Due to Absence of Thymus	43
1446		IMM105	Immunodeficiency with Hyper-Igm, Type 3	42
1447		CRD137	Cardiogenic Shock	42
1448		MST004	Mast Cell Neoplasm	42
1449		CHL149	Childhood Acute Myeloid Leukemia	42
1450		GLY015	Glycine N-Methyltransferase Deficiency	42
1451		BCL002	B Cell Deficiency	42
1452	c	NPH049	Nephrotic Syndrome, Type 2	42
1453		EXT007	Extracutaneous Mastocytoma	41
1454	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	41
1455	c	PRM038	Primary Agammaglobulinemia	41
1456		ALD013	Aldosterone-Producing Adenoma	41
1457		GDS001	Good Syndrome	41
1458	c	HRD007	Hereditary Lymphedema	41
1459	c	LNG053	Long Qt Syndrome 9	41
1460		CMP042	Complement Factor H Deficiency	41
1461	c	PLM150	Pulmonary Alveolar Proteinosis, Acquired	40
1462		SVR098	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	40
1463		CVR010	Cavernous Malformation	40
1464	P	ALK015	Alk-Positive Anaplastic Large Cell Lymphoma	40
1465		MTH021	Methylmalonic Acidemia with Homocystinuria	40
1466	c	CNG439	Congenital Lymphedema	40
1467	c	GLY044	Glycogen Storage Disease Ixc	40
1468		FTL004	Fetal Erythroblastosis	40
1469		CMP090	Complement Component 3 Deficiency, Autosomal Recessive	40
1470	c	LNG057	Long Qt Syndrome 13	40
1471		PRS108	Persistent Polyclonal B-Cell Lymphocytosis	39
1472		GRH001	Gorham's Disease	39
1473		PRM155	Primary Cutaneous Anaplastic Large Cell Lymphoma	39
1474		IMM131	Immunodeficiency with Hyper-Igm, Type 4	39
1475		TCL012	T-Cell/histiocyte Rich Large B Cell Lymphoma	39
1476	c	PSD092	Pseudohypoaldosteronism, Type Iie	39
1477	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	38
1478		HST016	Histiocytic Sarcoma	38
1479		TCL023	T-Cell Lymphoma, Subcutaneous Panniculitis-Like	38
1480		CHR286	Chronic Neutrophilic Leukemia	38
1481		OST167	Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis	38
1482	c	PRM163	Primary Mediastinal Large B-Cell Lymphoma	38
1483		HDG005	Hodgkin's Lymphoma, Mixed Cellularity	38
1484	c	LNG096	Long Qt Syndrome 15	38
1485		INT221	Intravascular Large B-Cell Lymphoma	38
1486		MDS019	Mediastinal Malignant Lymphoma	38
1487	c	ADL001	Adult Lymphoma	38
1488		VRS001	Virus Associated Hemophagocytic Syndrome	38
1489		MST001	Mast-Cell Sarcoma	37
1490		TRN030	Transient Erythroblastopenia of Childhood	37
1491		HDG001	Hodgkin's Lymphoma, Nodular Sclerosis	37
1492		PRK003	Parkes Weber Syndrome	37
1493		HMC038	Hemochromatosis, Neonatal	37
1494	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	37
1495	c	NPH070	Nephrotic Syndrome, Type 6	37
1496		OST008	Osteosclerotic Myeloma	37
1497		WLD007	Waldenstroem's Macroglobulinemia	36
1498	c	NPH054	Nephrotic Syndrome, Type 3	36
1499	c	CHR064	Chronic Monocytic Leukemia	36
1500	c	HRD202	Hereditary Lymphedema I	36
1501	c	ACR092	Aicardi-Goutieres Syndrome 5	36
1502		PDT001	Pediatric Lymphoma	36
1503		CTN001	Cutaneous Solitary Mastocytoma	36
1504	c	LNG056	Long Qt Syndrome 12	35
1505	c	WLF009	Wolfram Syndrome 2	35
1506		PRM127	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type	35
1507		IMM070	Immunodeficiency 13	34
1508		RFR002	Refractory Hairy Cell Leukemia	34
1509		ATN011	Autoinflammation with Infantile Enterocolitis	34
1510		FCT034	Factor V and Factor Viii, Combined Deficiency of, 2	34
1511		MDS006	Mediastinal Gray Zone Lymphoma	34
1512		CMP001	Composite Lymphoma	34
1513		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	34
1514		SPL060	Splenic Diffuse Red Pulp Small B-Cell Lymphoma	34
1515		LNG004	Langerhans Cell Sarcoma	34
1516		GRY001	Gray Zone Lymphoma	33
1517		LFF001	Loeffler Endocarditis	33
1518	c	ACR091	Aicardi-Goutieres Syndrome 4	33
1519		EXT048	Extranodal Nasal Nk/t Cell Lymphoma	33
1520		CMB022	Combined Cellular and Humoral Immune Defects with Granulomas	33
1521		ALK003	Aleukemic Leukemia Cutis	32
1522		ACT114	Acute Myeloblastic Leukemia Without Maturation	32
1523		LYM014	Lymphangitis	32
1524	c	HRD206	Hereditary Lymphedema Ii	32
1525		GRN032	Granulomatous Slack Skin Disease	32
1526	c	ACR090	Aicardi-Goutieres Syndrome 2	32
1527	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	32
1528		NNT007	Neonatal Leukemia	32
1529		RFM001	Roifman Syndrome	32
1530		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	32
1531		UNC014	Unicentric Castleman Disease	32
1532		ACT177	Acute Basophilic Leukemia	31
1533	c	BRG007	Brugada Syndrome 5	31
1534	c	LKM005	Leukemia, T-Cell, Chronic	31
1535	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	31
1536		PRM129	Primary Cutaneous Marginal Zone B-Cell Lymphoma	31
1537	c	ERY065	Erythrocytosis, Familial, 7	31
1538		MTH056	Methylmalonic Aciduria and Homocystinuria, Cblf Type	31
1539		HDG003	Hodgkin's Lymphoma, Lymphocytic Depletion	30
1540		ISL122	Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia	30
1541	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	30
1542	c	AGM013	Agammaglobulinemia 1, Autosomal Recessive	30
1543	c	GLY009	Glycogen Storage Disease Xv	30
1544		NDL020	Nodal Marginal Zone B-Cell Lymphoma	30
1545		HML042	Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy	30
1546	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	30
1547		PRD001	Predominantly Cortical Thymoma	29
1548		IMM065	Immunodeficiency 10	29
1549	c	GLY097	Glycogen Storage Disease Ixb	29
1550	c	NJM002	Nijmegen Breakage Syndrome-Like Disorder	29
1551	c	ACR084	Aicardi-Goutieres Syndrome 7	29
1552	c	OST125	Osteopetrosis, Autosomal Dominant 1	29
1553	c	ACT194	Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation	28
1554		EPT007	Epithelial Malignant Thymoma	28
1555		HST008	Histiocytic and Dendritic Cell Cancer	28
1556		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	28
1557		RNL054	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	28
1558		RLP008	Relapsed/refractory Diffuse Large B-Cell Lymphoma	28
1559		MYL067	Myeloproliferative Disorder, Chronic, with Eosinophilia	27
1560	c	SNG011	Singleton-Merten Syndrome 1	27
1561	c	LNG098	Long Qt Syndrome 14	27
1562	c	LVR030	Liver Failure, Infantile, Transient	27
1563		TCL016	T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy	27
1564	c	ANM035	Anemia, Hypochromic Microcytic, with Iron Overload 1	27
1565		IMM062	Immunodeficiency 11	27
1566		CTN027	Cutaneous Mastocytoma	27
1567		IDP001	Idiopathic Cd4-Positive T-Lymphocytopenia	27
1568		IMM122	Immunodeficiency 41 with Lymphoproliferation and Autoimmunity	27
1569	c	GLY006	Glycogen Storage Disease Viii	27
1570		HYP643	Hypohidrotic Ectodermal Dysplasia with Immunodeficiency	26
1571		HYP766	Hyperbilirubinemia, Transient Familial Neonatal	26
1572		SVR032	Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation	26
1573		MNS002	Mini Stroke	25
1574		IMM066	Immunodeficiency 9	25
1575		NTR006	Neutrophil Immunodeficiency Syndrome	25
1576		PRM128	Primary Cutaneous Follicle Center Lymphoma	25
1577	c	BRG006	Brugada Syndrome 2	25
1578		IMM143	Immunodeficiency 48	25
1579	c	OST106	Osteopetrosis, Autosomal Recessive 8	25
1580		PRS002	Prostate Lymphoma	25
1581		CLS052	Classic Hairy Cell Leukemia	25
1582	c	CND036	Candidiasis, Familial, 4	25
1583	c	NPH047	Nephrotic Syndrome, Type 4	25
1584		FCL083	Ficolin 3 Deficiency	25
1585	c	INF144	Inflammatory Skin and Bowel Disease, Neonatal, 1	25
1586	c	SBC004	Subacute Myeloid Leukemia	24
1587		IMM117	Immunodeficiency by Defective Expression of Hla Class 1	24
1588		IMM068	Immunodeficiency 8	24
1589		CD8002	Cd8 Deficiency, Familial	24
1590		HMC042	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	24
1591		IMM132	Immunodeficiency Due to a Classical Component Pathway Complement Deficiency	24
1592	c	NPH073	Nephrotic Syndrome, Type 8	24
1593		IMM095	Immunodeficiency 35	24
1594	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	24
1595		IMM120	Immunodeficiency 40	24
1596	c	GLY059	Glycogen Storage Disease Xiii	24
1597		IMM176	Immunodeficiency with Hyper-Igm, Type 5	24
1598		NSL004	Nasal Cavity Lymphoma	24
1599		PLS003	Plasmacytic Leukemia	24
1600	c	FML334	Familial Candidiasis	23
1601		IMM055	Immunodeficiency, Common Variable, 8, with Autoimmunity	23
1602	c	STN011	Sting-Associated Vasculopathy with Onset in Infancy	23
1603	c	INF160	Inflammatory Bowel Disease 17	23
1604		IMM142	Immunodeficiency 50	23
1605		IMM077	Immunodeficiency 20	23
1606		ESN023	Eosinophilia, Familial	23
1607	c	NPH095	Nephrotic Syndrome, Type 11	23
1608		IMM180	Immunodeficiency 28	23
1609	P	HYP252	Hypochromic Microcytic Anemia with Iron Overload	23
1610	c	INF077	Inflammatory Bowel Disease 19	23
1611		WRM004	Warm Antibody Hemolytic Anemia	22
1612	c	NPH074	Nephrotic Syndrome, Type 9	22
1613	c	NPH103	Nephrotic Syndrome, Type 15	22
1614	c	OST171	Osteopetrosis, Autosomal Dominant 3	22
1615		IMM190	Immunodeficiency 55	22
1616		TCL021	T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations	22
1617	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	22
1618	c	CND025	Candidiasis, Familial, 8	22
1619	c	ADL093	Adult Acute Monocytic Leukemia	22
1620	c	MCR161	Macroglobulinemia, Waldenstrom 1	22
1621	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	22
1622		ACT234	Acute Myeloid Leukemia with Minimal Differentiation	22
1623	c	BRG012	Brugada Syndrome 9	22
1624		TRC018	Tracheal Lymphoma	22
1625		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	22
1626		SLC003	Selective Igm Deficiency Disease	22
1627		CRB087	Cerebral Arteriosclerosis	22
1628		IMM191	Immunodeficiency 56	22
1629	c	INF138	Infantile Liver Failure Syndrome 2	22
1630	c	LNG045	Long Qt Syndrome 10	22
1631		HGH031	High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement	22
1632		SPC022	Specific Antibody Deficiency	22
1633	c	BRG009	Brugada Syndrome 7	21
1634		CMB047	Combined Oxidative Phosphorylation Deficiency 18	21
1635		IMM134	Immunodeficiency, Common Variable, 13	21
1636	c	INF146	Inflammatory Skin and Bowel Disease, Neonatal, 2	21
1637		IMM187	Immunodeficiency 38 with Basal Ganglia Calcification	21
1638		IMM071	Immunodeficiency 12	21
1639		IMM183	Immunodeficiency 32a	21
1640		IND009	Indeterminate Cell Histiocytosis	21
1641		MSP001	Masp2 Deficiency	21
1642		GLL013	Gallbladder Lymphoma	21
1643		MCR309	Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia	21
1644		IMM150	Immunodeficiency 52	21
1645		IMM029	Immunodeficiency Due to Defect in Mapbp-Interacting Protein	21
1646	c	CND033	Candidiasis, Familial, 1	21
1647	c	NPH096	Nephrotic Syndrome, Type 12	21
1648		IMM075	Immunodeficiency 22	20
1649	c	INF067	Inflammatory Bowel Disease 10	20
1650	P	NNT037	Neonatal Inflammatory Skin and Bowel Disease	20
1651		IMM079	Immunodeficiency, Common Variable, 11	20
1652		SYS070	Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood	20
1653		IMM186	Immunodeficiency 27b	20
1654		IMM182	Immunodeficiency 31a	20
1655		SBL003	Subleukemic Leukemia	20
1656		IMM181	Immunodeficiency 29	20
1657		CMB092	Combined Immunodeficiency Due to Cd27 Deficiency	20
1658		ALK017	Alk-Positive Large B-Cell Lymphoma	20
1659		BSP001	Basophil Adenoma	20
1660		IMM128	Immunodeficiency Due to a Late Component of Complement Deficiency	20
1661	c	SNG012	Singleton-Merten Syndrome 2	19
1662	c	CND031	Candidiasis, Familial, 9	19
1663	c	BRG003	Brugada Syndrome 3	19
1664		IMM118	Immunodeficiency 42	19
1665	c	ATR092	Atrial Fibrillation, Familial, 15	19
1666		TCL022	T-Cell Receptor-Alpha/beta Deficiency	19
1667	c	BRG010	Brugada Syndrome 8	19
1668		BND002	B- and T-Cell Mixed Leukemia	19
1669		TBS005	T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta	19
1670	c	NPH076	Nephrotic Syndrome, Type 10	19
1671	c	ERY064	Erythrocytosis, Familial, 6	19
1672	c	NPH105	Nephrotic Syndrome, Type 17	19
1673		EPS031	Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly	19
1674		IMM076	Immunodeficiency 24	19
1675	c	NPH107	Nephrotic Syndrome, Type 19	19
1676		AGM003	Agammaglobulinemia, Microcephaly, and Severe Dermatitis	19
1677	c	NPH104	Nephrotic Syndrome, Type 16	19
1678	c	BRG004	Brugada Syndrome 4	18
1679		IMM135	Immunodeficiency 46	18
1680	c	NPH106	Nephrotic Syndrome, Type 18	18
1681	P	ACT190	Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation	18
1682		KPS005	Kaposiform Lymphangiomatosis	18
1683	c	LNG046	Long Qt Syndrome 11	18
1684	c	INF093	Inflammatory Bowel Disease 14	18
1685	c	PLY141	Polycystic Kidney Disease 5	18
1686	c	ACT195	Acute Myeloid Leukemia with T(9;11)(p22;q23)	18
1687	c	ATR085	Atrial Fibrillation, Familial, 18	18
1688		THY006	Thymus Lymphoma	17
1689		MTH049	Methotrexate-Associated Lymphoproliferative Disorders	17
1690	c	SYS066	Systemic Polyarteritis Nodosa	17
1691	c	INF170	Inflammatory Bowel Disease 29	17
1692	c	INF068	Inflammatory Bowel Disease 13	17
1693	c	BRG008	Brugada Syndrome 6	17
1694	c	TCL008	T-Cell Lymphoma 1a	17
1695		IMM130	Immunoneurologic Disorder, X-Linked	17
1696	c	CND027	Candidiasis, Familial, 3	17
1697	c	NPH093	Nephrotic Syndrome, Type 13	17
1698	c	PLM044	Pulmonary Fibrosis, Familial	16
1699		CHL077	Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy	16
1700		PRM132	Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma	16
1701		PRM133	Primary Pulmonary Lymphoma	15
1702		HYD045	Hydroa Vacciniforme-Like Lymphoma	15
1703		CHR680	Chronic Lymphoproliferative Disorder of Natural Killer Cells	15
1704		PLG010	Pelger-Huet Anomaly with Mild Skeletal Anomalies	15
1705		LNP001	Loin Pain Hematuria Syndrome	15
1706		LCH010	Lichtenstein Syndrome	15
1707	c	RNL117	Renal Tubular Acidosis Iii	14
1708		CMB055	Combined Immunodeficiency Due to Crac Channel Dysfunction	14
1709		PRM250	Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified	14
1710	c	ACT198	Acute Myeloid Leukemia with T(6;9)(p23;q34)	14
1711	c	PSD024	Pseudo Pelger-Huet Anomaly	14
1712		ALK014	Aleukemic Mast Cell Leukemia	13
1713	c	DYS194	Dysautonomia-Like Disorder	13
1714		STR014	Sternum Lymphoma	13
1715	c	SBC006	Subacute Leukemia	12
1716		APP002	Appendix Lymphoma	12
1717	c	PRM222	Primary Polyarteritis Nodosa	12
1718	c	ANP011	Anaplastic Small Cell Lymphoma	12
1719		RFR001	Refractory Plasma Cell Neoplasm	12
1720		THM022	Thumb Agenesis, Short Stature, and Immunodeficiency	11
1721		ADL095	Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies	11
1722	c	SBC015	Subacute Monocytic Leukemia	11
1723		ACT186	Acute Megakaryoblastic Leukemia in Down Syndrome	11
1724	c	MTH069	Methylmalonic Acidemia Due to Transcobalamin Receptor Defect	11
1725		PRN002	Paranasal Sinus Lymphoma	11
1726		RCT002	Rectum Lymphoma	11
1727		ALP049	Alopecia Antibody Deficiency	11
1728		DNZ002	Dianzani Autoimmune Lymphoproliferative Disease	10
1729		CVR004	Cavernous Hemangioma of Colon	10
1730	c	CLC009	Clcn7-Related Osteopetrosis	10
1731		ALK002	Aleukemic Monocytic Leukemia Cutis	10
1732		NTR010	Neutropenia Monocytopenia Deafness	10
1733		ACT179	Acute Myeloid Leukemia with 11q23 Abnormalities	10
1734	c	SCN047	Secondary Pulmonary Hemosiderosis	10
1735		NKD001	Nik Deficiency	9
1736		ACT165	Acute Megakaryoblastic Leukemia Without Down Syndrome	9
1737		URT017	Ureteral Lymphoma	9
1738	c	PLY176	Polycystic Kidney Disease 4	8
1739		NNM003	Non-Amyloid Monoclonal Immunoglobulin Deposition Disease	8
1740		MGK005	Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13)	8
1741		SYS063	Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood	8
1742		CCM002	Cecum Lymphoma	8
1743	c	HRD205	Hereditary Lymphedema Ib	8
1744		LYM117	Lymphocytic Hypereosinophilic Syndrome	8
1745	c	SCN055	Secondary Polyarteritis Nodosa	8
1746	c	LCL003	Localized Pulmonary Fibrosis	7
1747		TCL019	T-Cell Childhood Lymphoblastic Lymphoma	7
1748	c	KRN003	Kernicterus Due to Isoimmunization	7
1749	c	PRM130	Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma	7
1750	c	HRD203	Hereditary Lymphedema Id	7
1751	c	HRD100	Hereditary Lymphedema Ic	7
1752	c	HRD204	Hereditary Lymphedema Ia	7
1753		SVR074	Severe Combined Immunodeficiency Due to Ikk2 Deficiency	6
1754		ACT199	Acute Myeloid Leukemia with Npm1 Somatic Mutations	6
1755		DRM001	Dermal Unilateral Segmental Cavernous Angioma	6
1756		ACT158	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation	6
1757		PRM165	Primary Plasmacytoma of the Bone	6
1758		DFF030	Diffuse Large B-Cell Lymphoma with Chronic Inflammation	6
1759		LYM119	Lymphoplasmacytic Lymphoma Without Igm Production	6
1760		ACT185	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor	6
1761		ACT184	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent	6
1762		ANS007	Anus Lymphoma	6
1763		PRM142	Primary Oculocerebral Lymphoma	5
1764		IMM197	Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome	5
1765	c	FML317	Familial Monosomy 7 Syndrome	5
1766		CLS045	Classic Hodgkin Lymphoma, Mixed Cellularity Type	5
1767		LYM096	Lymphoadenopathic Mastocytosis with Eosinophilia	5
1768		CLS046	Classic Hodgkin Lymphoma, Lymphocyte-Rich Type	5
1769		CLS019	Classic Mast Cell Leukemia	5
1770		PRM148	Primary Lymphoma of the Conjunctiva	5
1771		MTH001	Methotrexate-Associated Lymphoproliferation	4
1772		ACQ049	Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease	3
1773		VSC006	Vascular Cancer	50
1774		HYD038	Hydrops Fetalis, Nonimmune	51
1775		VSC007	Vascular Disease	72
1776	c	LKM071	Leukemia, Chronic Lymphocytic	78
1777	P	LYM031	Lymphocytic Leukemia	61
1778	c	ADL052	Adult Acute Lymphocytic Leukemia	45
1779	c	LKM056	Leukemia, Chronic Lymphocytic 2	43
1780		MYL059	Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1	33
1781	c	LKM050	Leukemia, Chronic Lymphocytic 1	18
1782	c	LKM051	Leukemia, Chronic Lymphocytic 3	18
1783	c	LKM052	Leukemia, Chronic Lymphocytic 5	17
1784	c	LKM053	Leukemia, Chronic Lymphocytic 4	12
1785		FML155	Familial Acute Myeloid Leukemia with Mutated Cebpa	13
1786	P	DLT002	Dilated Cardiomyopathy	75
1787	P	LYM118	Lymphoma	69
1788	c	CRD099	Cardiomyopathy, Dilated, 1e	56
1789	P	EXD001	Exudative Vitreoretinopathy	50
1790	c	CRD187	Cardiomyopathy, Dilated, 3b	48
1791	c	CRD233	Cardiomyopathy, Dilated, 1b	44
1792	c	CRD093	Cardiomyopathy, Dilated, 1a	44
1793	c	CRD097	Cardiomyopathy, Dilated, 1d	43
1794	c	CRD105	Cardiomyopathy, Dilated, 1o	35
1795	c	CRD069	Cardiomyopathy, Dilated, 1h	33
1796	c	EYL003	Eye Lymphoma	33
1797	c	ATM102	Autoimmune Cardiomyopathy	30
1798	c	CRD104	Cardiomyopathy, Dilated, 1p	30
1799	c	CRD102	Cardiomyopathy, Dilated, 1j	29
1800	c	EXD004	Exudative Vitreoretinopathy 4	26
1801	c	CRD155	Cardiomyopathy, Dilated, 1kk	24
1802	c	CRD107	Cardiomyopathy, Dilated, 1r	23
1803	c	EXD010	Exudative Vitreoretinopathy 6	22
1804	c	CRD101	Cardiomyopathy, Dilated, 1x	22
1805	c	EXD007	Exudative Vitreoretinopathy 3	22
1806	c	EXD006	Exudative Vitreoretinopathy 5	22
1807	c	CRD113	Cardiomyopathy, Dilated, 1v	22
1808	c	CRD063	Cardiomyopathy, Dilated, 2a	21
1809	c	CRD091	Cardiomyopathy, Dilated, 1dd	21
1810	c	CRD244	Cardiomyopathy, Dilated, 2c	20
1811	c	CRD162	Cardiomyopathy, Dilated, 1ii	20
1812	c	EXD012	Exudative Vitreoretinopathy 7	20
1813	c	CRD153	Cardiomyopathy, Dilated, 2b	20
1814	c	CRD114	Cardiomyopathy, Dilated, 1m	20
1815	c	CRD159	Cardiomyopathy, Dilated, 1hh	20
1816	c	CRD149	Cardiomyopathy, Dilated, 1jj	19
1817	c	CRD173	Cardiomyopathy, Dilated, 1nn	19
1818	c	CRD112	Cardiomyopathy, Dilated, 1u	19
1819	c	CRD090	Cardiomyopathy, Dilated, 1l	19
1820	c	CRD080	Cardiomyopathy, Dilated, 1g	19
1821	c	CRD082	Cardiomyopathy, Dilated, 1gg	19
1822	c	CRD115	Cardiomyopathy, Dilated, 1cc	19
1823	c	CRD108	Cardiomyopathy, Dilated, 1bb	19
1824	c	CRD092	Cardiomyopathy, Dilated, 1w	18
1825	c	CRD111	Cardiomyopathy, Dilated, 1i	18
1826	c	CRD060	Cardiomyopathy, Dilated, 1z	18
1827	c	CRD096	Cardiomyopathy, Dilated, 1ee	18
1828	c	CRD064	Cardiomyopathy, Dilated, 1ff	17
1829	c	CRD070	Cardiomyopathy, Dilated, 1k	15
1830	c	CRD071	Cardiomyopathy, Dilated, 1q	15
1831	c	DLT017	Dilated Cardiomyopathy 1t	14
1832	c	LMN001	Lmna-Related Dilated Cardiomyopathy	11
1833	c	CRD027	Cardiomyopathy Due to Anthracyclines	9
1834	P	LNG032	Lung Cancer	99
1835		GST053	Gastric Cancer	78
1836		PLM134	Pulmonary Fibrosis, Idiopathic	73
1837		LYM133	Lymphoma, Hodgkin, Classic	72
1838	P	PHC003	Pheochromocytoma	72
1839	P	LKM002	Leukemia	72
1840	P	RSP003	Respiratory Failure	72
1841	P	BLD134	Bladder Cancer	70
1842	c	PLM164	Pulmonary Hypertension, Primary, 1	70
1843		CHD001	Chediak-Higashi Syndrome	67
1844	P	HMP002	Hemophagocytic Lymphohistiocytosis	66
1845		ART005	Arteriovenous Malformation	66
1846	c	CRD086	Cardiomyopathy, Familial Hypertrophic, 1	66
1847		HYP780	Hypoadrenocorticism, Familial	62
1848		HRY003	Hairy Cell Leukemia	60
1849	c	SVR001	Severe Acute Respiratory Syndrome	60
1850	P	HYP061	Hypertrophic Cardiomyopathy	59
1851	P	LYM113	Lymphoproliferative Syndrome, X-Linked, 1	58
1852		LRG008	Large Granular Lymphocyte Leukemia	49
1853	c	CRD065	Cardiomyopathy, Familial Hypertrophic, 2	48
1854	c	LYM114	Lymphoproliferative Syndrome, X-Linked, 2	47
1855	c	HMP022	Hemophagocytic Lymphohistiocytosis, Familial, 1	47
1856	c	HMP012	Hemophagocytic Lymphohistiocytosis, Familial, 2	47
1857		HST006	Histidinemia	44
1858	c	BLD008	Bladder Carcinoma in Situ	40
1859		BLS007	Blastic Plasmacytoid Dendritic Cell	39
1860	c	CRD085	Cardiomyopathy, Familial Hypertrophic, 4	39
1861	c	HMP014	Hemophagocytic Lymphohistiocytosis, Familial, 4	38
1862	c	CRD232	Cardiomyopathy, Familial Hypertrophic, 6	38
1863	c	CRD147	Cardiomyopathy, Familial Hypertrophic, 20	36
1864	c	SPR094	Sporadic Pheochromocytoma	36
1865	c	MLG157	Malignant Pheochromocytoma	35
1866	c	HMP013	Hemophagocytic Lymphohistiocytosis, Familial, 3	34
1867	c	CRD219	Cardiomyopathy, Infantile Hypertrophic	31
1868	c	HMP023	Hemophagocytic Lymphohistiocytosis, Familial, 5	30
1869		BNM005	Bone Marrow Necrosis	27
1870	c	CRD088	Cardiomyopathy, Familial Hypertrophic, 8	26
1871	c	CRD087	Cardiomyopathy, Familial Hypertrophic, 10	26
1872	c	CRD056	Cardiomyopathy, Familial Hypertrophic, 11	25
1873	c	CRD089	Cardiomyopathy, Familial Hypertrophic, 14	24
1874	c	CRD061	Cardiomyopathy, Familial Hypertrophic, 13	23
1875	c	CRD150	Cardiomyopathy, Familial Hypertrophic, 18	23
1876	c	CRD083	Cardiomyopathy, Familial Hypertrophic, 15	23
1877	c	CRD222	Cardiomyopathy, Familial Hypertrophic, 26	23
1878	c	CRD062	Cardiomyopathy, Familial Hypertrophic, 7	23
1879	c	CRD058	Cardiomyopathy, Familial Hypertrophic, 3	22
1880	c	CRD236	Cardiomyopathy, Familial Hypertrophic, 25	22
1881	c	CRD238	Cardiomyopathy, Familial Hypertrophic, 17	21
1882	c	CRD081	Cardiomyopathy, Familial Hypertrophic, 12	21
1883	c	CRD242	Cardiomyopathy, Familial Hypertrophic 27	21
1884	c	CRD079	Cardiomyopathy, Familial Hypertrophic, 9	21
1885	c	CRD148	Cardiomyopathy, Familial Hypertrophic, 16	20
1886	c	CRD152	Cardiomyopathy, Familial Hypertrophic, 21	20
1887	c	LNG003	Lung Carcinoma in Situ	9
1888	c	HYP486	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training	8
1889	P	CLR023	Colorectal Cancer	99
1890		LYM143	Lymphoma, Non-Hodgkin, Familial	73
1891		MYC006	Mycosis Fungoides	73
1892		MLT157	Multiple System Atrophy 1	72
1893	c	EXD008	Exudative Vitreoretinopathy 1	72
1894		CMM004	Common Variable Immunodeficiency	71
1895	P	CLC063	Celiac Disease 1	71
1896	P	NJM001	Nijmegen Breakage Syndrome	69
1897	P	MYL006	Myeloid Leukemia	67
1898	P	MYC084	Mycobacterium Tuberculosis 1	67
1899		ABT001	Abetalipoproteinemia	67
1900		SZR001	Sezary's Disease	66
1901	c	ACT210	Acute Respiratory Distress Syndrome	66
1902		CNT097	Central Hypoventilation Syndrome, Congenital	65
1903		CNC002	Cinca Syndrome	64
1904	P	ADL010	Adult Respiratory Distress Syndrome	64
1905	P	PLY011	Polycystic Ovary Syndrome	64
1906	P	BCL006	B-Cell Lymphomas	64
1907		PRD013	Periodic Fever, Familial, Autosomal Dominant	63
1908	P	LYM033	Lymphoproliferative Syndrome	63
1909		BLM001	Bloom Syndrome	63
1910	c	ACT073	Acute Leukemia	62
1911		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	62
1912		RSC001	Rosacea	61
1913	P	PTN014	Patent Ductus Arteriosus 1	61
1914	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	60
1915		FRC011	Fructose Intolerance, Hereditary	60
1916		HYP190	Hypoalphalipoproteinemia, Primary	60
1917		RRR001	Rere-Related Disorders	59
1918	c	FML116	Familial Cold Autoinflammatory Syndrome 1	58
1919	c	SVR003	Severe Congenital Neutropenia	58
1920		DFF005	Diffuse Large B-Cell Lymphoma	58
1921		GLB001	Gilbert Syndrome	57
1922		ERY029	Erythermalgia, Primary	57
1923		LYM040	Lymphoblastic Lymphoma	57
1924	P	HYP828	Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	57
1925	c	ACT020	Acute T Cell Leukemia	57
1926		HDR002	Hidradenitis Suppurativa	57
1927	P	CNT005	Central Nervous System Lymphoma	57
1928	c	HYP731	Hyperaldosteronism, Familial, Type I	56
1929	c	OST131	Osteopetrosis, Autosomal Dominant 2	55
1930	P	LFT003	Left Ventricular Noncompaction	55
1931		WHM001	Whim Syndrome	55
1932		ACT103	Acute Lymphoblastic Leukemia, Childhood	55
1933	c	ALB009	Albinism, Oculocutaneous, Type Ia	54
1934	P	OCL002	Oculocutaneous Albinism	54
1935		ESN020	Eosinophilic Granulomatosis with Polyangiitis	54
1936	c	HMN021	Human T-Cell Leukemia Virus Type 1	53
1937	P	BRT004	Bartter Disease	53
1938	c	LKM060	Leukemia, Acute Lymphoblastic 3	53
1939	c	ALB021	Albinism, Oculocutaneous, Type Ii	53
1940	c	TCL005	T-Cell Prolymphocytic Leukemia	52
1941	P	RST002	Restrictive Cardiomyopathy	52
1942	c	PRM226	Primary Central Nervous System Lymphoma	52
1943		CHL061	Childhood Leukemia	52
1944	c	MLG054	Malignant Histiocytosis	51
1945	c	ALB020	Albinism, Oculocutaneous, Type Iii	51
1946		CHR001	Churg-Strauss Syndrome	50
1947		NTR003	Natural Killer Cell Leukemia	49
1948		SCH016	Schimke Immunoosseous Dysplasia	49
1949	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	49
1950		TTR005	Tetrahydrobiopterin Deficiency	48
1951		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	48
1952		ENC055	Encephalopathy, Ethylmalonic	48
1953	P	ERY008	Erythromelalgia	48
1954		TCL002	T-Cell Large Granular Lymphocyte Leukemia	47
1955		LGH004	Light Chain Deposition Disease	47
1956	c	ALB010	Albinism, Oculocutaneous, Type Ib	47
1957	c	ALB019	Albinism, Oculocutaneous, Type Iv	47
1958		CLL014	Cll/sll	47
1959		GLY014	Glycerol Kinase Deficiency	47
1960	c	TYR013	Tyrosinemia, Type Ii	46
1961	c	OST129	Osteopetrosis, Autosomal Recessive 2	46
1962	c	ALB015	Albinism, Oculocutaneous, Type V	46
1963		SML008	Small Intestine Lymphoma	46
1964		GLT007	Glutathione Synthetase Deficiency	45
1965		ERY051	Erythroleukemia, Familial	45
1966		FML075	Familial Isolated Hyperparathyroidism	45
1967	c	OST136	Osteopetrosis, Autosomal Recessive 7	45
1968	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	44
1969		CSP005	Caspase 8 Deficiency	44
1970	c	LYM107	Lymphoproliferative Syndrome 2	44
1971	c	BRT042	Bartter Syndrome, Type 3	44
1972	c	HMN022	Human T-Cell Leukemia Virus Type 2	43
1973	c	FNC046	Fanconi Anemia, Complementation Group P	43
1974	c	FML053	Familial Colorectal Cancer	43
1975		LNG013	Lung Lymphoma	42
1976	c	PLY105	Polycystic Ovary Syndrome 1	42
1977		PRC049	Precursor T-Cell Acute Lymphoblastic Leukemia	42
1978	c	ALB016	Albinism, Oculocutaneous, Type Vii	41
1979	c	BRL011	Bare Lymphocyte Syndrome, Type I	41
1980	c	TCL001	T-Cell Adult Acute Lymphocytic Leukemia	41
1981		ANG060	Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps	41
1982	P	8P1002	8p11 Myeloproliferative Syndrome	40
1983	c	CLR085	Colorectal Cancer 1	40
1984	c	GRS012	Griscelli Syndrome, Type 3	40
1985		ENT008	Enteropathy-Associated T-Cell Lymphoma	39
1986		IMM078	Immunodeficiency 21	39
1987		PGM029	Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked	39
1988		GST020	Gastric Antral Vascular Ectasia	39
1989		LYM042	Lymphocytic Colitis	39
1990		MTR008	Mature B-Cell Neoplasm	38
1991	c	LKM004	Leukemia, B-Cell, Chronic	38
1992	c	FML311	Familial Colorectal Cancer Type X	38
1993	P	THP004	Thiopurines, Poor Metabolism of, 1	38
1994	P	FML156	Familial Hyperaldosteronism	37
1995	c	FML117	Familial Cold Autoinflammatory Syndrome 2	37
1996	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	37
1997	c	ACR088	Aicardi-Goutieres Syndrome 3	37
1998		IMM026	Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia	36
1999		PYG003	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne	36
2000	c	ATM083	Autoimmune Lymphoproliferative Syndrome, Type Iii	36
2001		HPT070	Hepatosplenic T-Cell Lymphoma	35
2002		IMM064	Immunodeficiency, Common Variable, 10	35
2003	c	HYP600	Hyperaldosteronism, Familial, Type Ii	35
2004	P	BCL013	B-Cell Adult Acute Lymphocytic Leukemia	35
2005		BCL008	B-Cell Childhood Acute Lymphoblastic Leukemia	35
2006		CNG016	Congenital Intrinsic Factor Deficiency	35
2007		CNT018	Central Nervous System Leukemia	35
2008		CLN005	Colon Lymphoma	35
2009		ASP026	Asplenia, Isolated Congenital	35
2010		SPL011	Spleen Cancer	34
2011	P	INH011	Inherited Bone Marrow Failure Syndromes	34
2012		MLN011	Malonyl-Coa Decarboxylase Deficiency	33
2013		MJD001	Majeed Syndrome	33
2014		DFF029	Diffuse Large B-Cell Lymphoma of the Central Nervous System	33
2015		BLD028	Bladder Lymphoma	33
2016	P	BNL002	Bone Lymphoma	32
2017	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	32
2018	c	LYM106	Lymphoproliferative Syndrome 1	32
2019	c	OST134	Osteopetrosis, Autosomal Recessive 6	32
2020		NLL001	Null-Cell Leukemia	32
2021		IMM080	Immunodeficiency 23	31
2022	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	31
2023	P	SNG014	Singleton-Merten Syndrome	31
2024	c	HYP438	Hyperaldosteronism, Familial, Type Iii	31
2025		IMM185	Immunodeficiency 26 with or Without Neurologic Abnormalities	30
2026	c	ATM097	Autoimmune Lymphoproliferative Syndrome, Type Iia	30
2027		HPT077	Hepatic Venoocclusive Disease with Immunodeficiency	30
2028	c	CLR077	Colorectal Cancer 10	30
2029	c	NPH072	Nephrotic Syndrome, Type 7	30
2030	c	LFT021	Left Ventricular Noncompaction 1	30
2031	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	30
2032	P	PRC017	Precursor Lymphoblastic Lymphoma/leukemia	29
2033	c	ALP087	Alpha-Heavy Chain Disease	29
2034	c	LYM151	Lymphoproliferative Syndrome 3	29
2035	c	FML253	Familial Cold Autoinflammatory Syndrome 3	29
2036	c	OST137	Osteopetrosis, Autosomal Recessive 4	29
2037	c	CLR080	Colorectal Cancer 5	28
2038	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	28
2039	c	ALB017	Albinism, Oculocutaneous, Type Vi	28
2040	c	CRD176	Cardiomyopathy, Familial Restrictive, 1	26
2041		ALP085	Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	26
2042		IMM100	Immunoglobulin Kappa Light Chain Deficiency	25
2043		DLF001	Dieulafoy Lesion	25
2044	c	BNM013	Bone Marrow Failure Syndrome 3	25
2045		IMM166	Immunodeficiency 27a	25
2046	c	EPD085	Epidermodysplasia Verruciformis 3	25
2047	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	24
2048	c	CLR087	Colorectal Cancer 12	24
2049	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	24
2050		IMM096	Immunodeficiency 30	23
2051		INF158	Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations	23
2052		IMM178	Immunodeficiency 31b	23
2053		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	23
2054	c	BNM011	Bone Marrow Failure Syndrome 2	22
2055		CHR375	Chromosome 8p11 Myeloproliferative Syndrome	22
2056	c	BNM032	Bone Marrow Failure Syndrome 4	22
2057	c	FML270	Familial Cold Autoinflammatory Syndrome 4	22
2058	c	HYP833	Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	22
2059	c	LFT017	Left Ventricular Noncompaction 8	22
2060		IMM099	Immunodeficiency 33	21
2061	c	EPD086	Epidermodysplasia Verruciformis 4	21
2062		TCL018	T-Cell Childhood Acute Lymphocytic Leukemia	21
2063	c	LFT018	Left Ventricular Noncompaction 10	21
2064		GRW003	Growth Hormone Insensitivity with Immunodeficiency	21
2065		IMM074	Immunodeficiency 16	21
2066	c	BRT024	Bartter Syndrome Type 4	21
2067	c	PRC004	Precursor B Lymphoblastic Lymphoma/leukemia	21
2068	c	CLC048	Celiac Disease 3	21
2069	c	CLR075	Colorectal Cancer 3	21
2070	c	PRM151	Primary Bone Lymphoma	20
2071	c	CLR079	Colorectal Cancer 2	20
2072	c	LKM055	Leukemia, Acute Lymphoblastic 2	19
2073	c	PRC018	Precursor T-Lymphoblastic Lymphoma/leukemia	19
2074	c	BNM033	Bone Marrow Failure Syndrome 5	19
2075	c	CND037	Candidiasis, Familial, 6	19
2076	c	HYP708	Hyperaldosteronism, Familial, Type Iv	19
2077	c	ATM087	Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency	18
2078		ECT103	Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	18
2079	c	CRD098	Cardiomyopathy, Familial Restrictive, 3	18
2080		IMM172	Immunodeficiency 34	18
2081	c	CLC037	Celiac Disease 4	18
2082		ERY007	Erythropoietin Polycythemia	17
2083		MLY011	Maleylacetoacetate Isomerase Deficiency	17
2084	c	LFT020	Left Ventricular Noncompaction 7	16
2085		CHR673	Chromosome 14q32 Duplication Syndrome, 700-Kb	16
2086		IMM129	Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis	16
2087		PRM247	Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection	15
2088	c	CLC039	Celiac Disease 13	15
2089	c	THP005	Thiopurines, Poor Metabolism of, 2	15
2090	c	CLC046	Celiac Disease 5	14
2091	c	CLR083	Colorectal Cancer 8	14
2092	c	CLC045	Celiac Disease 2	14
2093	c	CLC038	Celiac Disease 10	14
2094	c	CLR082	Colorectal Cancer 7	14
2095	c	CLR081	Colorectal Cancer 6	14
2096	c	CLC040	Celiac Disease 6	14
2097	c	CLC047	Celiac Disease 8	13
2098	c	CLC044	Celiac Disease 12	13
2099	c	CLC042	Celiac Disease 9	13
2100	c	CLC043	Celiac Disease 11	13
2101	c	CLC041	Celiac Disease 7	13
2102		PRM131	Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma	13
2103		CNG530	Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	13
2104	c	LFT011	Left Ventricular Noncompaction 2	13
2105		MYL018	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	13
2106	c	SCN066	Secondary Erythromelalgia	12
2107		ISL032	Isolated Bone Marrow Mastocytosis	12
2108	c	MYC055	Mycobacterium Tuberculosis 3	12
2109	c	CLR084	Colorectal Cancer 9	11
2110	c	CLR078	Colorectal Cancer 11	11
2111	c	ADL080	Adult Acute Respiratory Distress Syndrome	11
2112	c	HMN023	Human T-Cell Leukemia Virus Type 3	11
2113	c	CRD057	Cardiomyopathy, Familial Restrictive, 2	10
2114		MYL060	Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement	10
2115	c	MYC054	Mycobacterium Tuberculosis 2	9
2116		MYL061	Myeloid Neoplasms Associated with Pdgfrb Rearrangement	8
2117		PNC007	Pancreas Lymphoma	7
2118		PST004	Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma	7
2119		PRG005	Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma	7
2120		MYL065	Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement	6
2121		MYL062	Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities	6
2122	c	FML158	Familial Hemangioma	6
2123		CHL029	Childhood Precursor T-Lymphoblastic Lymphoma/leukemia	6
2124		CNG172	Congenital Vascular Cavernous Malformations	5
2125		VSC022	Vascular Erectile Tumor	5
2126		PRC009	Precursor T-Lymphoblastic Lymphoma/leukemia Refractory	5
2127	c	SCN010	Scn9a-Related Inherited Erythromelalgia	3
2128		MYL064	Myeloproliferative/lymphoproliferative Neoplasms, Familial	23
2129		BNM001	Bone Marrow Cancer	60
2130		WLS001	Wilson Disease	70
2131		LYM129	Lymphoma, Mucosa-Associated Lymphoid Type	69
2132		LYM007	Lymphangioleiomyomatosis	67
2133		OMN001	Omenn Syndrome	66
2134		STF001	Stiff-Person Syndrome	64
2135	P	JVN014	Juvenile Polyposis Syndrome	62
2136		RTH001	Rothmund-Thomson Syndrome	61
2137	P	TRC086	Trichohepatoenteric Syndrome 1	60
2138		ACT193	Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22)	59
2139	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	56
2140	P	GRS003	Griscelli Syndrome	56
2141		CHR003	Cherubism	56
2142	c	ALM001	Al Amyloidosis	55
2143	P	EPD083	Epidermodysplasia Verruciformis 1	54
2144		PRN001	Purine Nucleoside Phosphorylase Deficiency	52
2145		HYD012	Hydrops Fetalis	51
2146		VCS001	Vici Syndrome	45
2147	c	GRS013	Griscelli Syndrome, Type 1	39
2148		GST093	Gastrointestinal Defects and Immunodeficiency Syndrome	38
2149	c	HYP829	Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	37
2150		ERY061	Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige	35
2151		IMM179	Immunodeficiency 31c	32
2152		LYM094	Lymphedema, Primary, with Myelodysplasia	31
2153	c	CND034	Candidiasis, Familial, 2	30
2154	c	JVN034	Juvenile Polyposis of Infancy	27
2155		STM015	Stomatin-Deficient Cryohydrocytosis with Neurologic Defects	27
2156	c	BNM010	Bone Marrow Failure Syndrome 1	27
2157		MTH079	Methylmalonic Acidemia and Homocysteinemia, Cblx Type	24
2158		IMM177	Immunodeficiency 54	24
2159		SPN026	Spinal Cord Lymphoma	21
2160	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	16
2161	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	15
2162		SKL031	Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	8
2163		ACR006	Aceruloplasminemia	73
2164	P	HYP802	Hypocalcemia, Autosomal Dominant 1	66
2165		MSM014	Mismatch Repair Cancer Syndrome	64
2166		MCK007	Muckle-Wells Syndrome	63
2167	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	37
2168	c	HYP564	Hypocalcemia, Autosomal Dominant 2	22
2169	c	EPD087	Epidermodysplasia Verruciformis 5	16
2170	c	EPD084	Epidermodysplasia Verruciformis 2	15
2171		PYR009	Pyridoxine Deficiency Anemia	37