Blood Diseases Category (2395 diseases)

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

#	Family	MCID	Name	MIFTS
1		MCR359	Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss	41
2		PRT012	Prothrombin Deficiency	37
3		PRT045	Prothrombin-Related Thrombophilia	31
4		HRD083	Hereditary Antithrombin Deficiency	30
5		GHS005	Ghosal Hematodiaphyseal Dysplasia	31
6		DYS127	Dyserythropoietic Anemia and Thrombocytopenia	27
7		FCT013	Factor V Leiden Thrombophilia	22
8	c	THR092	Thrombophilia Due to Thrombin Defect	74
9		MYH004	Myh9 Related Thrombocytopenia	21
10	c	THR037	Thrombocytopenia 2	36
11		HRD163	Hereditary Antithrombin Deficiency Type 2	5
12		HRD164	Hereditary Antithrombin Deficiency Type I	5
13	c	THR102	Thrombocytopenia 5	28
14	c	THR090	Thrombocythemia 1	47
15		ALP094	Alpha Thalassemia-Intellectual Disability Syndrome Type 1	30
16	P	ACQ041	Acquired Amegakaryocytic Thrombocytopenia	22
17		THR016	Thrombophlebitis	50
18	c	THR082	Thrombophilia Due to Activated Protein C Resistance	61
19		INT078	Intracranial Thrombosis	48
20	c	RDL034	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1	21
21	c	THR111	Thrombocytopenia 3	40
22	c	THR048	Thrombocytopenia 4	31
23		BLD141	Blood Group--Kell System	21
24		BLD160	Blood Group, John Milton Hagen System	15
25		THR024	Thrombosis	58
26		THR116	Thrombocytopenia, Cyclic	25
27	c	BLD146	Blood Group, P1pk System	21
28		THR039	Thrombocytopenia Robin Sequence	8
29		ALP029	Alpha-Thalassemia-Abnormal Morphogenesis	4
30	P	ESS003	Essential Thrombocythemia	69
31		CMP080	Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy	36
32	c	THR086	Thrombocythemia 3	26
33		MND006	Mondor Disease	18
34		CHR466	Chronic Thromboembolic Pulmonary Hypertension	41
35	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	32
36		BLD167	Blood Group, Kidd System	21
37		BRG013	Buerger Disease	58
38		SGT001	Sagittal Sinus Thrombosis	33
39		HPR006	Heparin Cofactor Ii Deficiency	29
40		CVR002	Cavernous Sinus Thrombosis	29
41	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	28
42		THR089	Thrombophilia Due to Protein S Deficiency, Autosomal Dominant	27
43		VTM009	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1	25
44	c	BLD132	Bleeding Disorder, Platelet-Type, 21	21
45		RPH001	Raph Blood Group System	13
46		PRM053	Primary Release Disorder of Platelets	10
47	c	HMT005	Hematocrit/hemoglobin Quantitative Trait Locus 1	9
48	P	HMT007	Hematocrit/hemoglobin Quantitative Trait Locus 3	8
49	c	HMT006	Hematocrit/hemoglobin Quantitative Trait Locus 2	7
50		MCR041	Macrothrombocytopenia Progressive Deafness	4
51		OBS522	Obsolete: Hereditary Thrombocytopenia-Hematological Cancer Predisposition Syndrome	4
52	c	SCP001	Sc Phocomelia Syndrome	41
53	P	PHC014	Phocomelia	25
54	c	DKP001	Dk Phocomelia Syndrome	23
55	c	THR087	Thrombocythemia 2	21
56		VTM010	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2	18
57	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	58
58		RTN193	Retinitis Pigmentosa and Erythrocytic Microcytosis	52
59		PRT018	Portal Vein Thrombosis	50
60		BLC004	Blackwater Fever	32
61	c	BLD140	Blood Group, I System	29
62	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	25
63		BLD155	Blood Group, Cromer System	25
64		BLD165	Blood Group, Colton System	21
65		BLD159	Blood Group, Junior System	21
66		PRN017	Perianal Hematoma	20
67		BLD162	Blood Group, Vel System	17
68		BLD166	Blood Group, Diego System	16
69		BLD158	Blood Group, Chido/rodgers System	11
70		CRN017	Coronary Thrombosis	45
71		PLM101	Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis	38
72		HMG010	Hemoglobinemia	29
73		THR067	Thrombophilia Due to Protein C Deficiency, Autosomal Dominant	27
74		HMT001	Hematocele of Tunica Vaginalis Testis	27
75		LTR002	Lateral Sinus Thrombosis	26
76	P	MNP023	Mean Platelet Volume/count Quantitative Trait Locus 2	7
77		BDD001	Budd-Chiari Syndrome	62
78		HMT018	Hematopoietic Stem Cell Transplantation	54
79	P	PST095	Post-Thrombotic Syndrome	50
80		ASP030	Aspirin Resistance	42
81		PLT006	Platelet-Activating Factor Acetylhydrolase Deficiency	26
82		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	22
83	P	RDL033	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2	20
84	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	15
85		HMG031	Hemoglobin, High Altitude Adaptation	15
86		BLD161	Blood Group, Globoside System	32
87		IVC001	Ivic Syndrome	30
88		STC016	Sticky Platelet Syndrome	25
89		BLD163	Blood Group, Dombrock System	24
90		THR088	Thrombophilia Due to Protein S Deficiency, Autosomal Recessive	24
91		BLD164	Blood Group, Gerbich System	22
92		THR055	Thrombophilia, X-Linked, Due to Factor Ix Defect	21
93		RDN004	Radin Blood Group Antigen	19
94		BLD151	Blood Group--Wright Antigen	18
95		BLD148	Blood Group, Langereis System	18
96		BLD144	Blood Group System, Landsteiner-Wiener	15
97		ANR040	Aneurysm	60
98	P	DYS026	Dysfibrinogenemia	42
99		THR035	Thrombasthenia	42
100		PLT015	Platelet Aggregation, Spontaneous	40
101		HMM001	Hemometra	35
102		PLS032	Plasmodium Falciparum Blood Infection Level	22
103		INT076	Intracranial Sinus Thrombosis	22
104		ANK019	Ankrd26-Related Thrombocytopenia	20
105		PLT035	Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease	18
106		HMT019	Hematohidrosis	15
107		OBS269	Obsolete: Inherited Predisposition to Essential Thrombocythemia	11
108		THR098	Thrombocythemia, X-Linked	10
109		FCT024	Factor V Excess with Spontaneous Thrombosis	9
110	c	BLD143	Blood Group--Lke	7
111	c	MNP022	Mean Platelet Volume/count Quantitative Trait Locus 1	7
112	c	MNP024	Mean Platelet Volume/count Quantitative Trait Locus 3	7
113		PRS059	Prostaglandin-Endoperoxide Synthase Deficiency	7
114	c	MNP025	Mean Platelet Volume/count Quantitative Trait Locus 4	7
115	c	MNP026	Mean Platelet Volume/count Quantitative Trait Locus 5	7
116	c	MNP027	Mean Platelet Volume/count Quantitative Trait Locus 6	7
117	c	SCK008	Sickle Delta Beta Thalassemia	5
118	P	HRM001	Hermansky-Pudlak Syndrome	64
119	c	HRM005	Hermansky-Pudlak Syndrome 1	54
120		HYP014	Hyperuricemia	52
121	c	HRM008	Hermansky-Pudlak Syndrome 5	51
122	c	HRM007	Hermansky-Pudlak Syndrome 4	38
123	c	HRM020	Hermansky-Pudlak Syndrome 10	23
124		HMG009	Hemoglobin Zurich	22
125		RHN014	Rh-Null, Amorph Type	19
126	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	18
127		THR112	Thrombocytopenia, Anemia, and Myelofibrosis	16
128		MLR004	Malaria	82
129	c	HML033	Hemolytic Uremic Syndrome, Atypical 1	67
130		MLD001	Melioidosis	66
131		PRP001	Propionic Acidemia	63
132	c	DNG003	Dengue Disease	61
133	P	DNG005	Dengue Virus	57
134		ARG007	Argininemia	55
135	c	HRM006	Hermansky-Pudlak Syndrome 3	50
136		ESN015	Eosinophilic Fasciitis	48
137		VTM033	Vitamin K Deficiency Bleeding	47
138		BBS001	Babesiosis	47
139		GLC011	Galactose Epimerase Deficiency	46
140	c	HRM009	Hermansky-Pudlak Syndrome 6	43
141		PLS030	Plasminogen Deficiency, Type I	43
142		THR123	Thrombotic Microangiopathy	41
143		MRN001	Marantic Endocarditis	40
144	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	34
145	c	HML035	Hemolytic Uremic Syndrome, Atypical 2	25
146	c	HML034	Hemolytic Uremic Syndrome, Atypical 3	25
147		ATM012	Autoimmune Disease of Blood	24
148	c	HML032	Hemolytic Uremic Syndrome, Atypical 4	23
149	c	HML037	Hemolytic Uremic Syndrome, Atypical 5	23
150	c	HML036	Hemolytic Uremic Syndrome, Atypical 6	23
151		THR007	Thrombophlebitis Migrans	19
152		BLD153	Blood Group--Swann System	17
153		SPN433	Spondyloepiphyseal Dysplasia, Kondo-Fu Type	17
154	c	BLD168	Bleeding Disorder, Platelet-Type, 22	14
155		ACH007	Achenbach Syndrome	12
156	P	ATY049	Atypical Hemolytic Uremic Syndrome with C3 Anomaly	10
157	c	SYS001	Systemic Lupus Erythematosus	88
158	P	TTR001	Tetralogy of Fallot	70
159		HYP056	Hypoglycemia	68
160	P	DBT009	Diabetes Mellitus	66
161		GT001	Gout	63
162	P	LPS004	Lupus Erythematosus	62
163		ISC004	Ischemia	62
164	P	SHW006	Shwachman-Diamond Syndrome 1	61
165	P	END033	Endocarditis	58
166		GST033	Gestational Diabetes	58
167	P	VNS003	Venous Insufficiency	55
168		HMC014	Homocysteinemia	54
169		CRT016	Carotid Artery Disease	53
170		RTN003	Retinal Ischemia	52
171	c	DMN023	Diamond-Blackfan Anemia 1	51
172		CLC001	Calciphylaxis	49
173	P	AFB001	Afibrinogenemia	49
174	c	CHR431	Chronic Venous Insufficiency	48
175		HPT025	Hepatic Lipase Deficiency	47
176		LPP002	Lipoprotein Glomerulopathy	44
177		ISC015	Ischemic Colitis	43
178		PYR040	Pyropoikilocytosis, Hereditary	39
179	c	SYS043	Systemic Lupus Erythematosus 1	39
180	c	PRM225	Primary Thrombocytopenia	39
181	c	ACQ042	Acquired Hemophilia a	38
182		CRT004	Carotid Artery Thrombosis	37
183	c	SYS061	Systemic Lupus Erythematosus 16	36
184	c	SBC003	Subacute Bacterial Endocarditis	33
185		CRB132	Cerebral Sinovenous Thrombosis	33
186		CRN270	Coronary Artery Dissection, Spontaneous	33
187	c	RRD013	Rare Diabetes Mellitus Type 2	32
188		HYP648	Hypertension and Brachydactyly Syndrome	30
189	c	TYP027	Type 1 Diabetes Mellitus 10	29
190	c	TYP032	Type 1 Diabetes Mellitus 6	29
191		PLT031	Platelet Membrane Fluidity	29
192	c	TYP035	Type 1 Diabetes Mellitus 11	28
193	c	TYP037	Type 1 Diabetes Mellitus 13	27
194	c	TYP033	Type 1 Diabetes Mellitus 7	27
195	c	TYP028	Type 1 Diabetes Mellitus 2	27
196	c	TYP031	Type 1 Diabetes Mellitus 5	26
197	c	CNG223	Congenital Methemoglobinemia	25
198	c	SYS038	Systemic Lupus Erythematosus 2	25
199	c	SHW007	Shwachman-Diamond Syndrome 2	24
200	c	TYP036	Type 1 Diabetes Mellitus 12	23
201	c	TYP034	Type 1 Diabetes Mellitus 8	22
202		DHY015	Dehydrated Hereditary Stomatocytosis 2	22
203	c	SYS040	Systemic Lupus Erythematosus 10	22
204	c	TYP038	Type 1 Diabetes Mellitus 15	22
205	c	SYS046	Systemic Lupus Erythematosus 3	21
206	c	TYP030	Type 1 Diabetes Mellitus 4	21
207	c	TYP039	Type 1 Diabetes Mellitus 17	21
208	c	SYS053	Systemic Lupus Erythematosus 5	21
209	c	TYP040	Type 1 Diabetes Mellitus 18	21
210	c	SYS069	Systemic Lupus Erythematosus 6	21
211	c	SYS051	Systemic Lupus Erythematosus 4	20
212	c	SYS041	Systemic Lupus Erythematosus 9	20
213	c	TYP029	Type 1 Diabetes Mellitus 3	18
214	c	SYS065	Systemic Lupus Erythematosus 11	18
215		PLT016	Platelet Adenylate Cyclase Activity	17
216		BLD137	Blood Group--Ahonen	17
217	c	SYS055	Systemic Lupus Erythematosus 12	16
218	P	PLT029	Platelet Groups--Ko System	16
219	c	SYS048	Systemic Lupus Erythematosus 8	16
220	c	SYS052	Systemic Lupus Erythematosus 13	16
221		BLD145	Blood Group--Newfoundland	16
222		EHL066	Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality	15
223		OBS532	Obsolete: Ehlers-Danlos Syndrome, Fibronectinemic Type	15
224	c	THR119	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	15
225		WHT020	White Blood Cell Count Quantitative Trait Locus 1	15
226	c	SYS047	Systemic Lupus Erythematosus 7	15
227		MTH081	Mthfr Gene Variant	14
228	c	SYS045	Systemic Lupus Erythematosus 14	13
229		DNV002	De Novo Thrombotic Microangiopathy After Kidney Transplantation	13
230	c	SYS067	Systemic Lupus Erythematosus 15	13
231		GNT148	Genetic Hemoglobinopathy	12
232		PLT028	Platelet Factor 3 Deficiency	12
233	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	11
234	P	BLD150	Blood Group--Ul System	10
235		PLT034	Platelet Prostacyclin Receptor Defect	10
236		HMG030	Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain	9
237	c	RRD012	Rare Diabetes Mellitus Type 1	9
238		YTB001	Yt Blood Group Antigen	9
239		PLT027	Platelet Disorder, Undefined	9
240		HMT020	Hematopoietic Stem Cell Kinetics, Control of	8
241		ATH014	Athrombia, Essential	8
242		PLT033	Platelet Signal Processing Defect	8
243		THL019	Thalassemia, Beta+, Silent Allele	8
244		OBS801	Obsolete: Platelet Storage Pool Disease	8
245		OST157	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	8
246		THR115	Thrombocyte B	7
247	c	RRD067	Rare Diabetes Mellitus	7
248	c	TTR026	Tetralogy of Fallot Syndrome, Autosomal Recessive	7
249	c	DBT096	Diabetes Mellitus, Congenital Autoimmune	7
250		ANT082	Antithrombin, Familial Hemorrhagic Diathesis Due to	7
251		TSY001	Tau Syndrome	7
252		PLS033	Plasma Clot Retraction Factor, Deficiency of	6
253		BLD136	Blood Group--Abh Antigen, Type 2	5
254		HML017	Hemolytic Uremic Syndrome, Atypical, Childhood	5
255	P	BLD139	Blood Group--En	5
256		BLD147	Blood Group--Private Systems	4
257		BLD135	Blood Group--Abo Suppressor	3
258	c	PLT030	Platelet Groups--Pl System	3
259		HMT021	Hematological Disease Associated with an Acquired Peripheral Neuropathy	3
260		RRG024	Rare Genetic Hematologic Disease	3
261		GNT137	Genetic Tumor of Hematopoietic and Lymphoid Tissues	3
262		OBS650	Obsolete: Platelet Function Disease Associated with Renal Insufficiency	3
263		GNT062	Genetic Thrombotic Microangiopathy	2
264		OBS295	Obsolete: Resistance to Acenocoumarol in Venous Thrombosis and Atrial Fibrillation	2
265		OBS330	Obsolete: Warfarine Dose Selection in the Treatment of Venous Thrombosis and Atrial Fibrillation	2
266		OBS343	Obsolete: Resistance to Warfarine in Venous Thrombosis and Atrial Fibrillation	2
267		OBS347	Obsolete: Resistance to Phenprocoumon in Venous Thrombosis and Atrial Fibrillation	2
268		OBS350	Obsolete: Resistance to Fluindione in Venous Thrombosis and Atrial Fibrillation	2
269	c	HYP595	Hypertension, Essential	87
270	c	LKM061	Leukemia, Acute Myeloid	84
271	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	82
272	c	FNC027	Fanconi Anemia, Complementation Group a	81
273	c	LKM063	Leukemia, Chronic Myeloid	74
274		AGM019	Agammaglobulinemia, X-Linked	71
275	P	DMN001	Diamond-Blackfan Anemia	69
276		BRK010	Burkitt Lymphoma	68
277		ATH013	Atherosclerosis Susceptibility	68
278	P	HMP002	Hemophagocytic Lymphohistiocytosis	68
279	c	ART101	Aortic Valve Disease 2	67
280	P	PRD008	Periodontitis	66
281		MSM014	Mismatch Repair Cancer Syndrome	65
282		BLM001	Bloom Syndrome	65
283	c	FNC043	Fanconi Anemia, Complementation Group E	64
284	P	NTR004	Neutropenia	64
285		ACT119	Acute Promyelocytic Leukemia	63
286	P	ACR001	Aicardi-Goutieres Syndrome	63
287	P	MYL006	Myeloid Leukemia	61
288		CRT002	Cartilage-Hair Hypoplasia	60
289	P	CRN300	Coronary Heart Disease 1	59
290	c	ADL017	Adult T-Cell Leukemia	59
291	P	HRD011	Hereditary Spherocytosis	59
292	P	LYM113	Lymphoproliferative Syndrome, X-Linked, 1	59
293		DNG002	Dengue Hemorrhagic Fever	59
294	P	THR005	Thrombotic Thrombocytopenic Purpura	59
295	P	GLM007	Glomerulonephritis	58
296		PRP030	Purpura	56
297	c	FNC042	Fanconi Anemia, Complementation Group D2	56
298	P	FNC044	Fanconi Anemia, Complementation Group C	56
299	c	PRD040	Periodontitis, Chronic	56
300		HRT012	Heart Valve Disease	56
301		CHK001	Chikungunya	55
302	c	THR045	Thrombotic Thrombocytopenic Purpura, Congenital	55
303		HYP005	Hypokalemia	55
304	c	ACT020	Acute T Cell Leukemia	54
305		FCT001	Factor Viii Deficiency	54
306	P	HMR003	Hemorrhagic Disease	54
307	P	ACT105	Acute Mountain Sickness	53
308		HLL004	Hellp Syndrome	53
309	c	ACR116	Aicardi-Goutieres Syndrome 1	53
310	P	SCK005	Sickle Cell Disease	53
311	c	ACT135	Acute Graft Versus Host Disease	52
312	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	52
313	P	ANL018	Analbuminemia	51
314	c	FNC025	Fanconi Anemia, Complementation Group J	51
315	c	FNC029	Fanconi Anemia, Complementation Group I	50
316	c	HMN021	Human T-Cell Leukemia Virus Type 1	50
317		RFR010	Refractory Anemia	50
318	c	HMP022	Hemophagocytic Lymphohistiocytosis, Familial, 1	49
319		CVR006	Cavernous Hemangioma	49
320		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	49
321	c	FNC024	Fanconi Anemia, Complementation Group D1	48
322	P	TCL004	T-Cell Leukemia	48
323	c	FNC045	Fanconi Anemia, Complementation Group F	48
324	P	PRR002	Pure Red-Cell Aplasia	47
325	c	HMP012	Hemophagocytic Lymphohistiocytosis, Familial, 2	47
326	P	ART018	Aortic Valve Insufficiency	47
327	c	FNC028	Fanconi Anemia, Complementation Group L	47
328	P	MTH007	Methemoglobinemia	47
329		TRC012	Trichuriasis	47
330	c	MLG069	Malignant Hypertension	46
331		MCR018	Microcytic Anemia	46
332		EXT010	Extramedullary Plasmacytoma	46
333		MCR225	Macrophage Activation Syndrome	45
334	c	FNC032	Fanconi Anemia, Complementation Group B	45
335	c	FNC030	Fanconi Anemia, Complementation Group G	45
336		CTS011	Cutis Marmorata Telangiectatica Congenita	45
337		PRT011	Protein C Deficiency	45
338	c	FNC046	Fanconi Anemia, Complementation Group P	44
339	c	FNC048	Fanconi Anemia, Complementation Group O	44
340		DRG026	Drug Reaction with Eosinophilia and Systemic Symptoms	44
341	c	CHR546	Chronic Mountain Sickness	43
342		LKS001	Leukostasis	43
343		ESN002	Eosinophilia-Myalgia Syndrome	43
344	P	PRC031	Preeclampsia/eclampsia 1	42
345	P	PRP034	Purpura Fulminans	42
346		LCN001	Lice Infestation	41
347	c	FNC057	Fanconi Anemia, Complementation Group U	41
348		MCR017	Macrocytic Anemia	41
349	c	FNC023	Fanconi Anemia, Complementation Group N	41
350	c	HMP014	Hemophagocytic Lymphohistiocytosis, Familial, 4	40
351	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	40
352	c	FNC047	Fanconi Anemia, Complementation Group Q	39
353	c	SPH013	Spherocytosis, Type 1	39
354		IND002	Indolent Systemic Mastocytosis	39
355	c	PSD106	Pseudo-Torch Syndrome 1	39
356	c	HMP013	Hemophagocytic Lymphohistiocytosis, Familial, 3	39
357		BLR027	Blue Rubber Bleb Nevus	39
358	c	SPH016	Spherocytosis, Type 4	39
359	c	HMP023	Hemophagocytic Lymphohistiocytosis, Familial, 5	39
360		ANM001	Anemia of Prematurity	38
361	c	ACR092	Aicardi-Goutieres Syndrome 5	38
362		HYP001	Hypochromic Microcytic Anemia	38
363	c	SPH014	Spherocytosis, Type 2	38
364	c	HMN022	Human T-Cell Leukemia Virus Type 2	38
365		ESN017	Eosinophilic Granuloma	38
366	c	ATM045	Autoimmune Glomerulonephritis	38
367	c	ACR088	Aicardi-Goutieres Syndrome 3	37
368	c	ACR090	Aicardi-Goutieres Syndrome 2	37
369		MYL074	Myelodysplastic Syndrome with Excess Blasts	37
370	c	FNC052	Fanconi Anemia, Complementation Group T	37
371	c	PRM304	Primary Hemophagocytic Lymphohistiocytosis	36
372	c	SPH015	Spherocytosis, Type 3	36
373		HMP018	Hemophilic Arthropathy	35
374	c	LKM004	Leukemia, B-Cell, Chronic	35
375	c	LKM005	Leukemia, T-Cell, Chronic	35
376	c	FNC058	Fanconi Anemia, Complementation Group R	35
377		SDR009	Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay	35
378	c	SCN069	Secondary Hemophagocytic Lymphohistiocytosis	35
379	P	FML187	Familial Hypertension	35
380	c	ACR091	Aicardi-Goutieres Syndrome 4	34
381		CRY019	Cryohydrocytosis	34
382	c	DMN021	Diamond-Blackfan Anemia 6	34
383	c	FNC062	Fanconi Anemia, Complementation Group S	34
384	c	FNC056	Fanconi Anemia, Complementation Group V	33
385		HMC016	Homocystinuria Due to Cbs Deficiency	33
386	c	ACQ047	Acquired Methemoglobinemia	33
387		FSR001	Fusariosis	33
388	c	SPH017	Spherocytosis, Type 5	33
389	c	ACR081	Aicardi-Goutieres Syndrome 6	33
390		CNG017	Congenital Nonspherocytic Hemolytic Anemia	32
391	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	32
392		SML011	Smoldering Myeloma	32
393		CHL070	Cholesterol Embolism	32
394	c	ELL010	Elliptocytosis 1	31
395		NNT011	Neonatal Anemia	31
396		RHS001	Rh Isoimmunization	31
397		GNT005	Giant Hemangioma	31
398	c	MLG039	Malignant Essential Hypertension	31
399		PRP038	Properdin Deficiency, X-Linked	31
400		ANH003	Anhaptoglobinemia	30
401		NNS003	Non-Secretory Myeloma	30
402	c	THR044	Thrombotic Thrombocytopenic Purpura, Acquired	30
403	c	ACR084	Aicardi-Goutieres Syndrome 7	30
404		PLT001	Plethora of Newborn	30
405	c	BNG021	Benign Essential Hypertension	29
406		NTR036	Neutropenia, Severe Congenital, X-Linked	29
407	c	HRD146	Hereditary Methemoglobinemia	29
408		NTR011	Neutrophil-Specific Granule Deficiency	28
409	c	DMN017	Diamond-Blackfan Anemia 10	28
410		MYL002	Myelophthisic Anemia	27
411	c	CRN174	Coronary Heart Disease 2	27
412	c	STN011	Sting-Associated Vasculopathy with Onset in Infancy	27
413	c	ACQ016	Acquired Pure Red Cell Aplasia	27
414	c	ATS210	Autosomal Recessive Sideroblastic Anemia	27
415		HDG004	Hodgkin's Granuloma	27
416		ATM069	Autoimmune Hemolytic Anemia, Warm Type	26
417	c	DMN006	Diamond-Blackfan Anemia 3	26
418	c	PSD107	Pseudo-Torch Syndrome 2	26
419	P	HYP252	Hypochromic Microcytic Anemia with Iron Overload	26
420	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	25
421	c	DMN022	Diamond-Blackfan Anemia 9	25
422	c	CRN214	Coronary Heart Disease 5	25
423	c	DMN018	Diamond-Blackfan Anemia 5	25
424	c	DMN019	Diamond-Blackfan Anemia 4	25
425	c	MLG080	Malignant Secondary Hypertension	25
426	c	DMN024	Diamond-Blackfan Anemia 7	25
427	c	PRC045	Preeclampsia/eclampsia 5	25
428	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	25
429		NTR013	Neutropenia, Nonimmune Chronic Idiopathic, of Adults	24
430	c	DMN020	Diamond-Blackfan Anemia 8	24
431	c	SBC010	Subacute Glomerulonephritis	24
432		PRT025	Protein-Deficiency Anemia	24
433	c	DMN005	Diamond-Blackfan Anemia 2	24
434	c	FNC061	Fanconi Anemia, Complementation Group W	24
435	c	PRC034	Preeclampsia/eclampsia 4	24
436	P	TRC034	Torch Syndrome	23
437	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	23
438		PLS037	Plasma Cell Tumor	23
439		LFF002	Loeffler Syndrome	23
440		FCT033	Factor Xiii, B Subunit, Deficiency of	23
441		HDG006	Hodgkin's Paragranuloma	23
442		ATR024	Atrial Fibrillation and Stroke	22
443	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	22
444	c	DMN029	Diamond-Blackfan Anemia 11	22
445		ARG006	Aregenerative Anemia	22
446	P	SLF001	Sulfhemoglobinemia	22
447	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	22
448		FBR023	Fibrinogen Deficiency, Congenital	21
449	c	DMN028	Diamond-Blackfan Anemia 12	21
450	c	RRH015	Rare Hemorrhagic Disorder	21
451		ATM106	Autoimmune Hemolytic Anemia, Cold Type	21
452	c	ATS209	Autosomal Dominant Secondary Polycythemia	21
453	c	DMN030	Diamond-Blackfan Anemia 13	20
454	c	CRN177	Coronary Heart Disease 7	20
455		LFR008	L-Ferritin Deficiency	19
456		HYP018	Hyperglobulinemic Purpura	19
457	c	DMN047	Diamond-Blackfan Anemia 18	19
458		HMC036	Homocystinuria Without Methylmalonic Aciduria	19
459		HVY003	Heavy Chain Deposition Disease	19
460	c	CNG336	Congenital Analbuminemia	19
461	P	RFR014	Refractory Anemia with Excess Blasts Type 2	19
462	c	CRN172	Coronary Heart Disease 3	19
463	c	DMN039	Diamond-Blackfan Anemia 17	18
464	c	ANM039	Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	18
465	c	DMN040	Diamond-Blackfan Anemia 16	18
466		DND003	Dendritic Cell Thymoma	18
467		HMR014	Hemorrhagic Shock and Encephalopathy Syndrome	18
468	c	DMN045	Diamond-Blackfan Anemia-Like	18
469	c	CRN178	Coronary Heart Disease 6	18
470	c	ART159	Aortic Valve Disease 3	17
471	P	PYR006	Pyridoxine-Responsive Sideroblastic Anemia	17
472		DCN001	Dic in Newborn	17
473	c	DMN049	Diamond-Blackfan Anemia 20	17
474	c	ACQ039	Acquired Purpura Fulminans	16
475		HYP765	Hyperbilirubinemia, Shunt, Primary	16
476	c	ACT195	Acute Myeloid Leukemia with T(9;11)(p22;q23)	16
477	c	MTH083	Methemoglobinemia, Beta Type	16
478	c	SBC004	Subacute Myeloid Leukemia	15
479	c	DMN048	Diamond-Blackfan Anemia 19	15
480		LCL017	Localized Pagetoid Reticulosis	15
481		NNT054	Neonatal Alloimmune Neutropenia	15
482	c	CNG346	Congenital Aortic Valve Insufficiency	14
483	c	CRN173	Coronary Heart Disease 8	14
484		6PH001	6-Phosphogluconate Dehydrogenase Deficiency	14
485		SML040	Smoldering Systemic Mastocytosis	14
486	c	ACT198	Acute Myeloid Leukemia with T(6;9)(p23;q34)	13
487		BLD072	Bleeding Disorder, East Texas Type	13
488	c	CRN176	Coronary Heart Disease 9	13
489		ALG024	Alg6-Congenital Disorder of Glycosylation	13
490		CHR058	Chronic Congestive Splenomegaly	13
491	c	CRN175	Coronary Heart Disease 4	13
492	c	HMN023	Human T-Cell Leukemia Virus Type 3	12
493	c	PRC032	Preeclampsia/eclampsia 2	12
494	c	ATY051	Atypical Hemolytic Uremic Syndrome with I Factor Anomaly	12
495		LTH044	Lutheran Null	12
496	c	PRC033	Preeclampsia/eclampsia 3	11
497	c	HYP447	Hypertension, Essential 1	11
498	c	HYP452	Hypertension, Essential 6	11
499		CGL001	Coagulation Protein Disease	11
500	c	HYP448	Hypertension, Essential 2	10
501	c	HYP449	Hypertension, Essential 3	10
502	c	HYP450	Hypertension, Essential 4	10
503	c	MTH084	Methemoglobinemia, Alpha Type	10
504		DSS003	Disseminated Eosinophilic Collagen Disease	10
505	c	HMR041	Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation	9
506		CNS021	Constitutional Neutropenia	9
507	c	HYP451	Hypertension, Essential 5	9
508	c	HYP454	Hypertension, Essential 8	9
509		CVR003	Cavernous Hemangioma of Face	9
510		ALG025	Alg1-Congenital Disorder of Glycosylation	9
511	c	HYP453	Hypertension, Essential 7	9
512		ATY050	Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly	9
513	P	ATY047	Atypical Hemolytic Uremic Syndrome with B Factor Anomaly	9
514		PDT039	Pediatric Castleman Disease	9
515	c	CNG266	Congenital Secondary Polycythemia	8
516		HML043	Hemolytic Disease of the Newborn with Kell Alloimmunization	8
517	c	SSC054	Susceptibility to Localized Juvenile Periodontitis	8
518	c	RRH018	Rare Hemorrhagic Disorder Due to a Qualitative Platelet Defect	7
519		CHR062	Chronic Erythremia	7
520	c	ACQ028	Acquired Secondary Polycythemia	7
521	c	SLF013	Sulfhemoglobinemia, Congenital	7
522	c	RRH028	Rare Hemorrhagic Disorder Due to a Constitutional Platelet Anomaly	7
523	c	BNG034	Benign Secondary Hypertension	7
524		PHY001	Physiological Polycythemia	6
525		CVR005	Cavernous Hemangioma of Orbit	6
526	c	RRH013	Rare Hemorrhagic Disorder Due to a Platelet Anomaly	6
527	c	RRH016	Rare Hemorrhagic Disorder Due to an Acquired Platelet Anomaly	6
528	c	RRH017	Rare Hemorrhagic Disorder Due to a Constitutional Thrombocytopenia	6
529		EXT049	Extramedullary Soft Tissue Plasmacytoma	6
530	c	PLY005	Polycythemia Due to Hypoxia	6
531		ATS075	Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene	6
532	c	CNS018	Constitutional Hemolytic Anemia Due to Acanthocytosis	5
533	c	RRH002	Rare Hemorrhagic Disorder Due to an Acquired Coagulation Factor Defect	5
534	c	RRH014	Rare Hemorrhagic Disorder Due to a Coagulation Factors Defect	5
535	c	RRH029	Rare Hemorrhagic Disorder Due to a Constitutional Coagulation Factors Defect	5
536	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	5
537		PLQ001	Plaque-Form Urticaria Pigmentosa	5
538	c	SCK049	Sickle Cell Disease and Related Diseases	5
539	c	ATS408	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3	5
540		FNC063	Functional Neutrophil Defect	4
541		ATS435	Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Complete Deficiency	4
542		ATS436	Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency	4
543		HML010	Hemolytic Anemia Due to Glutathione Reductase Deficiency	4
544		DNS011	Dense Granule Disease	4
545		DHY001	Dehydration Polycythemia	4
546		VTM034	Vitamin B12- and Folate-Independent Constitutional Megaloblastic Anemia	4
547		CNS010	Constitutional Dyserythropoietic Anemia	4
548		PRT104	Protein S Acquired Deficiency	3
549		CNS019	Constitutional Sideroblastic Anemia	3
550		CNG561	Congenital Vitamin K-Dependent Coagulation Factors Deficiency	3
551		MCR375	Macrophage or Histiocytic Tumor	2
552		QNT001	Quantitative and/or Qualitative Congenital Phagocyte Defect	2
553		FMR001	Femoral Vein Thrombophlebitis	15
554		PLM033	Pulmonary Embolism	60
555		STR067	Stroke, Ischemic	82
556		CMR002	Coumarin Resistance	56
557		LMR001	Lemierre's Syndrome	47
558		GLT018	Glut1 Deficiency Syndrome 1	42
559	P	ANT006	Antiphospholipid Syndrome	56
560		URN003	Urinary Schistosomiasis	45
561	P	THP004	Thiopurines, Poor Metabolism of, 1	44
562	c	ANT041	Antiphospholipid Syndrome, Familial	22
563	c	THP005	Thiopurines, Poor Metabolism of, 2	17
564		PRM285	Primitive Portal Vein Thrombosis	15
565	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	15
566		THR040	Thrombocytopenia with Elevated Serum Iga and Renal Disease	9
567		KTZ001	Kotzot-Richter Syndrome	8
568		ILC001	Iliac Vein Thrombophlebitis	8
569		SCH028	Schlegelberger Grote Syndrome	7
570	P	PLM037	Pulmonary Hypertension	69
571		GTL001	Gitelman Syndrome	62
572		VRC005	Varicose Veins	61
573		CHR105	Choreoacanthocytosis	51
574		CRB138	Core Binding Factor Acute Myeloid Leukemia	43
575		GLC024	Glucose Transporter Type 1 Deficiency Syndrome	41
576	P	HYP769	Hyperlysinemia, Type I	38
577		MTH026	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	36
578	c	PLM127	Pulmonary Hypertension, Primary, 3	33
579		CYT019	Cytogenetically Normal Acute Myeloid Leukemia	33
580	c	PLM128	Pulmonary Hypertension, Primary, 2	29
581	c	PLM121	Pulmonary Hypertension, Primary, 4	28
582	c	PLM169	Pulmonary Hypertension, Primary, Autosomal Recessive	11
583	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	9
584	c	RRP017	Rare Pulmonary Hypertension	6
585		CNN003	Conn's Syndrome	78
586	P	HYP724	Hyperlipoproteinemia, Type Iii	74
587	P	LVR013	Liver Disease	71
588	c	CHR684	Chronic Kidney Disease	68
589	P	VSC011	Vasculitis	64
590	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	62
591	c	ACT071	Acute Kidney Failure	60
592	P	LDD007	Liddle Syndrome 1	58
593	c	ACT134	Acute Liver Failure	53
594	c	HYP740	Hyperlipoproteinemia, Type V	53
595	c	HYP739	Hyperlipoproteinemia, Type Iv	50
596	c	INF145	Infantile Liver Failure Syndrome 1	50
597	c	HYP768	Hyperlipoproteinemia, Type I	50
598		CLP006	Clopidogrel Resistance	41
599	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	35
600	c	ATM104	Autoimmune Vasculitis	33
601	c	LVR030	Liver Failure, Infantile, Transient	33
602	c	INF138	Infantile Liver Failure Syndrome 2	25
603	c	HYP819	Hyperlipoproteinemia, Type Id	22
604	c	LDD008	Liddle Syndrome 2	20
605	c	LDD009	Liddle Syndrome 3	18
606	c	SCN082	Secondary Vasculitis	16
607	c	RNL016	Renal Infectious Disease	12
608	c	MCL042	Macular Degeneration, Age-Related, 1	88
609	c	ART115	Aortic Valve Disease 1	76
610		PRP027	Peripheral Vascular Disease	72
611	P	CRD119	Cardiac Arrest	71
612	c	FML001	Familial Atrial Fibrillation	67
613	P	ATR011	Atrial Fibrillation	67
614		NPH091	Nephrolithiasis, Calcium Oxalate	66
615		ANG054	Angina Pectoris	66
616	P	ABD014	Abdominal Obesity-Metabolic Syndrome 1	65
617		HYP020	Hyperprolactinemia	62
618		LNG099	Lung Disease	62
619		TRN015	Transient Cerebral Ischemia	62
620	c	ART138	Aortic Aneurysm, Familial Abdominal, 1	62
621	c	TYR012	Tyrosinemia, Type I	61
622		PRT058	Pure Autonomic Failure	60
623		LGG001	Legg-Calve-Perthes Disease	60
624		IRN002	Iron Metabolism Disease	58
625		TRG002	Trigeminal Neuralgia	58
626		BLR008	Bilirubin Metabolic Disorder	58
627		INT030	Intracranial Aneurysm	57
628	c	NPH055	Nephrotic Syndrome, Type 1	56
629	P	HYP024	Hypoparathyroidism	56
630		SHG001	Shigellosis	54
631	P	TYR004	Tyrosinemia	54
632	c	GLY005	Glycogen Storage Disease Vi	52
633		HYP074	Hypersensitivity Vasculitis	52
634		CRB186	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to	51
635	P	PLG001	Pelger-Huet Anomaly	49
636		PRP009	Peripartum Cardiomyopathy	47
637		CRY004	Cryoglobulinemia	47
638	c	NPH049	Nephrotic Syndrome, Type 2	45
639		PYR037	Pyruvate Carboxylase Deficiency	44
640		CRT046	Corticosteroid-Binding Globulin Deficiency	43
641		HYP003	Hypermethioninemia	42
642	c	NPH054	Nephrotic Syndrome, Type 3	42
643	c	TYR011	Tyrosinemia, Type Iii	41
644	c	FML015	Familial Nephrotic Syndrome	40
645	c	NPH070	Nephrotic Syndrome, Type 6	39
646	c	MCL043	Macular Degeneration, Age-Related, 2	34
647	c	NPH047	Nephrotic Syndrome, Type 4	32
648	c	PST106	Post-Cardiac Arrest Syndrome	31
649		PRT112	Portal Hypertension, Noncirrhotic	31
650	c	ATM068	Autoimmune Hypoparathyroidism	31
651	c	NPH096	Nephrotic Syndrome, Type 12	28
652	c	ABD013	Abdominal Obesity-Metabolic Syndrome 3	28
653	c	MCL078	Macular Degeneration, Age-Related, 14	28
654		UTR057	Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis	27
655	c	NPH076	Nephrotic Syndrome, Type 10	27
656		MYT019	May-Thurner Syndrome	27
657	c	ATR038	Atrial Fibrillation, Familial, 3	26
658	c	NPH102	Nephrotic Syndrome, Type 14	26
659	c	MCL038	Macular Degeneration, Age-Related, 4	25
660	c	NPH074	Nephrotic Syndrome, Type 9	25
661	c	NPH073	Nephrotic Syndrome, Type 8	24
662	c	ATR059	Atrial Fibrillation, Familial, 11	24
663	P	MCL058	Macular Degeneration, Early-Onset	24
664	c	MCL052	Macular Degeneration, Age-Related, 13	24
665	c	ATR035	Atrial Fibrillation, Familial, 6	24
666	c	ATR061	Atrial Fibrillation, Familial, 10	24
667	c	MCL051	Macular Degeneration, Age-Related, 12	24
668	c	NPH103	Nephrotic Syndrome, Type 15	24
669	c	NPH095	Nephrotic Syndrome, Type 11	24
670	c	NPH105	Nephrotic Syndrome, Type 17	24
671	c	ATR037	Atrial Fibrillation, Familial, 7	23
672	c	ATR072	Atrial Fibrillation, Familial, 13	23
673	c	MCL077	Macular Degeneration, Age-Related, 5	22
674	c	MCL030	Macular Degeneration, Age-Related, 10	22
675	c	NPH106	Nephrotic Syndrome, Type 18	21
676	c	ATR026	Atrial Fibrillation, Familial, 1	21
677	c	ATR068	Atrial Fibrillation, Familial, 14	21
678	c	ATR069	Atrial Fibrillation, Familial, 12	21
679	c	MCL039	Macular Degeneration, Age-Related, 8	21
680	c	NPH104	Nephrotic Syndrome, Type 16	20
681	P	FML305	Familial Abdominal Aortic Aneurysm	20
682	c	NPH107	Nephrotic Syndrome, Type 19	20
683	c	MCL036	Macular Degeneration, Age-Related, 6	20
684	c	ATR039	Atrial Fibrillation, Familial, 4	20
685	c	MCL041	Macular Degeneration, Age-Related, 7	19
686	c	MCL044	Macular Degeneration, Age-Related, 9	19
687	c	NPH093	Nephrotic Syndrome, Type 13	19
688	c	ATR070	Atrial Fibrillation, Familial, 9	18
689		ANG063	Angiolipomatosis, Familial	18
690		VNS012	Venous Thoracic Outlet Syndrome	18
691	c	MCL032	Macular Degeneration, Age-Related, 11	18
692		FRS010	Forsythe-Wakeling Syndrome	17
693	c	MCL065	Macular Degeneration, Age-Related, 15	17
694	c	ATR027	Atrial Fibrillation, Familial, 5	15
695	c	NPH108	Nephrotic Syndrome, Type 20	15
696	c	ART151	Aortic Aneurysm, Familial Abdominal, 2	15
697	c	ART152	Aortic Aneurysm, Familial Abdominal, 3	14
698	c	PSD024	Pseudo Pelger-Huet Anomaly	14
699	c	ATR025	Atrial Fibrillation, Familial, 2	13
700	c	ART108	Aortic Aneurysm, Familial Abdominal, 4	13
701	c	ATR028	Atrial Fibrillation, Familial, 8	13
702	c	CNG590	Congenital and Infantile Nephrotic Syndrome	12
703		FYP001	Faye-Petersen-Ward-Carey Syndrome	7
704	c	SCN062	Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion	7
705		PLT032	Platelet Responsiveness to Adrenaline, Depressed	7
706	c	RRH010	Rare Hypoparathyroidism	6
707		HMT022	Hematological Disorder with Renal Involvement	3
708		NNR013	Non-Rare Hematologic Disease	3
709		RRD031	Rare Disorder Potentially Indicated for Hematopoietic Stem Cell Transplant	3
710		MYL069	Myeloma, Multiple	85
711	P	ATX030	Ataxia-Telangiectasia	83
712	P	APL001	Aplastic Anemia	76
713		KPS004	Kaposi Sarcoma	75
714	c	HYP836	Hypercholesterolemia, Familial, 1	74
715	c	ATM006	Autoimmune Lymphoproliferative Syndrome	73
716	c	BTT014	Beta-Thalassemia	73
717		MYL009	Myelodysplastic Syndrome	72
718	P	GRF003	Graft-Versus-Host Disease	71
719		ART016	Aortic Aneurysm	71
720	P	BRG001	Brugada Syndrome	70
721		MNT001	Mantle Cell Lymphoma	69
722		CNG034	Congestive Heart Failure	69
723	c	HMP029	Hemophilia a	69
724		CMM004	Common Variable Immunodeficiency	69
725	P	LNG028	Long Qt Syndrome	68
726	c	GLY008	Glycogen Storage Disease Ii	68
727		ALP042	Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity	67
728	P	BLD124	Bleeding Disorder, Platelet-Type, 11	66
729	c	HMP004	Hemophilia B	66
730		OMN001	Omenn Syndrome	66
731	c	LNG044	Long Qt Syndrome 1	66
732		FML089	Familial Thoracic Aortic Aneurysm and Dissection	65
733	c	GCH015	Gaucher Disease, Type I	65
734	P	HML002	Hemolytic Anemia	64
735		APN008	Apnea, Obstructive Sleep	64
736	P	GCH001	Gaucher's Disease	63
737	c	GLY060	Glycogen Storage Disease Ia	63
738	c	SYS004	Systemic Mastocytosis	63
739		HYP066	Hyperglycemia	63
740	P	MST009	Mastocytosis	62
741	P	HMN010	Hemangioma	62
742	c	GLY003	Glycogen Storage Disease Iii	62
743		DGR001	Digeorge Syndrome	61
744		ACQ007	Acquired Immunodeficiency Syndrome	61
745	P	TXP001	Toxoplasmosis	61
746		DPH001	Diphtheria	61
747	c	ANM038	Anemia, Autoimmune Hemolytic	61
748		DBT084	Diabetes Mellitus, Ketosis-Prone	60
749		HYP458	Hyper Ige Syndrome	60
750	c	GLY004	Glycogen Storage Disease V	60
751	P	MLG056	Malignant Hyperthermia	60
752	P	ERY058	Erythrocytosis, Familial, 1	60
753	P	GLY013	Glycogen Storage Disease	59
754		CHR063	Chronic Mucocutaneous Candidiasis	59
755	c	GCH016	Gaucher Disease, Type Ii	59
756		CYC010	Cyclic Neutropenia	58
757		CYT008	Cytomegalovirus Infection	58
758	P	HMP007	Hemophilia	58
759		RTN209	Retinoschisis 1, X-Linked, Juvenile	57
760	c	LNG047	Long Qt Syndrome 2	57
761		FCT003	Factor X Deficiency	57
762		HMG005	Hemoglobinopathy	57
763		ACT200	Acute Monoblastic Leukemia	56
764	c	ANM036	Anemia, Sideroblastic, 1	56
765	c	CHR417	Chronic Graft Versus Host Disease	56
766	c	GLY011	Glycogen Storage Disease Vii	55
767		CHL028	Childhood Type Dermatomyositis	55
768	c	GCH017	Gaucher Disease, Type Iii	54
769	c	GLY007	Glycogen Storage Disease Iv	54
770		CHR081	Choroideremia	54
771	P	LYM025	Lymphedema	54
772	c	HRM017	Hermansky-Pudlak Syndrome 2	54
773		PNC001	Pancytopenia	54
774	P	MGL001	Megaloblastic Anemia	54
775	P	SLM003	Salmonellosis	54
776	c	FML191	Familial Long Qt Syndrome	54
777		NTR018	Neutrophilia, Hereditary	53
778		PRP036	Peripheral T-Cell Lymphoma	53
779	c	ERY048	Erythrocytosis, Familial, 2	53
780		CMB003	Combined T Cell and B Cell Immunodeficiency	53
781		FCT006	Factor V Deficiency	53
782	P	ATN002	Autonomic Nervous System Disease	52
783		FDL002	Food Allergy	52
784		PRT129	Prothrombin Deficiency, Congenital	52
785	P	MNC007	Monocytic Leukemia	52
786		THR004	Thrombocytosis	52
787	P	CTN015	Cutaneous T Cell Lymphoma	52
788	c	PRM012	Primary Polycythemia	52
789	c	CNG021	Congenital Toxoplasmosis	52
790		HYP063	Hypersplenism	51
791	P	HRD012	Hereditary Elliptocytosis	50
792		BLD044	Bladder Disease	50
793	P	ESN008	Eosinophilic Pneumonia	50
794	c	BRG005	Brugada Syndrome 1	50
795		TRN022	Transcobalamin Ii Deficiency	50
796	c	LNG048	Long Qt Syndrome 3	50
797		CRD137	Cardiogenic Shock	50
798	c	VNW008	Von Willebrand Disease, Type 3	49
799	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	49
800		HYP006	Hypertensive Heart Disease	49
801		ANG046	Angioimmunoblastic T-Cell Lymphoma	49
802	c	MGL018	Megaloblastic Anemia 1	49
803		PRD004	Prediabetes Syndrome	49
804		HPR003	Heparin-Induced Thrombocytopenia	49
805		SPL018	Splenomegaly	48
806		SPL012	Splenic Disease	48
807		ATN005	Autonomic Dysfunction	48
808	c	GRS014	Griscelli Syndrome, Type 2	48
809	P	BLD051	Blood Coagulation Disease	48
810		VTM002	Vitamin B12 Deficiency	48
811		HYP801	Hyperferritinemia with or Without Cataract	48
812		VCS001	Vici Syndrome	48
813		LPD004	Lipoid Nephrosis	48
814		RYN001	Raynaud Disease	48
815		PLM035	Pulmonary Eosinophilia	47
816		CMP042	Complement Factor H Deficiency	47
817	P	CNG003	Congenital Dyserythropoietic Anemia	47
818		MYL013	Myeloperoxidase Deficiency	47
819		RCH001	Richter's Syndrome	47
820	c	ACQ014	Acquired Hemophilia	47
821		CLD007	Cold Agglutinin Disease	47
822	P	HYP828	Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	47
823		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	47
824	P	SDR003	Sideroblastic Anemia	47
825		GRN017	Granulocytopenia	46
826	c	CHR037	Chronic Eosinophilic Pneumonia	46
827		SHH001	Sheehan Syndrome	46
828	c	LNG051	Long Qt Syndrome 6	45
829		PLT004	Platelet Glycoprotein Iv Deficiency	45
830		PKL001	Poikiloderma with Neutropenia	45
831		ATN011	Autoinflammation with Infantile Enterocolitis	45
832	c	LNG050	Long Qt Syndrome 5	45
833	c	ALK016	Alk-Negative Anaplastic Large Cell Lymphoma	45
834	P	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	45
835		CYN002	Cyanosis, Transient Neonatal	45
836		RDC006	Red Cell Aplasia	45
837		SVR098	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	44
838		AMB001	Amebiasis	44
839		HDG002	Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance	44
840	c	PSD048	Pseudo-Von Willebrand Disease	44
841		ART035	Arterial Calcification of Infancy	44
842		HMP001	Hemopericardium	44
843		PRS127	Pearson Marrow-Pancreas Syndrome	44
844	c	CHR064	Chronic Monocytic Leukemia	43
845		AGG002	Aggressive Systemic Mastocytosis	43
846	c	MLG147	Malignant Hyperthermia 1	43
847	c	GMM003	Gamma Heavy Chain Disease	43
848	c	GLY098	Glycogen Storage Disease, Type Ixd	42
849		SPT002	Septicemic Plague	41
850		IMM011	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	41
851	c	LNG053	Long Qt Syndrome 9	41
852	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	41
853		NDL021	Nodular Lymphocyte Predominant Hodgkin Lymphoma	41
854	c	GRS013	Griscelli Syndrome, Type 1	41
855	P	DYS021	Dysautonomia	41
856	c	PRM163	Primary Mediastinal Large B-Cell Lymphoma	41
857	P	PRM293	Primary Mediastinal B-Cell Lymphoma	41
858		MST004	Mast Cell Neoplasm	40
859		HST016	Histiocytic Sarcoma	40
860		BLD054	Blood Protein Disease	40
861	c	HMG029	Hemoglobin Se Disease	40
862		LCH001	Leech Infestation	40
863		QBC001	Quebec Platelet Disorder	39
864		ALD013	Aldosterone-Producing Adenoma	39
865		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	39
866	P	ALK015	Alk-Positive Anaplastic Large Cell Lymphoma	39
867	c	LNG056	Long Qt Syndrome 12	39
868	c	PRM327	Primary Lymphedema	39
869		RTN072	Retinohepatoendocrinologic Syndrome	39
870	c	GLY044	Glycogen Storage Disease Ixc	38
871	c	GLY016	Glycogen Storage Disease Ib	38
872	c	LNG096	Long Qt Syndrome 15	38
873		PRS108	Persistent Polyclonal B-Cell Lymphocytosis	38
874	P	BCL004	B-Cell Non-Hodgkin Lymphoma	38
875	c	BRG007	Brugada Syndrome 5	38
876		HDG001	Hodgkin's Lymphoma, Nodular Sclerosis	38
877	c	GRS012	Griscelli Syndrome, Type 3	38
878	c	HRD007	Hereditary Lymphedema	38
879		FTL004	Fetal Erythroblastosis	37
880	c	TCL024	T-Cell Non-Hodgkin Lymphoma	37
881		CHR276	Chronic Active Epstein-Barr Virus Infection	37
882		MTH064	Methemoglobinemia, Beta-Globin Type	37
883	c	LNG057	Long Qt Syndrome 13	37
884		MST001	Mast-Cell Sarcoma	37
885	c	BLD152	Bleeding Disorder, Platelet-Type, 16	36
886		INT221	Intravascular Large B-Cell Lymphoma	36
887		PRM155	Primary Cutaneous Anaplastic Large Cell Lymphoma	36
888	c	ATM083	Autoimmune Lymphoproliferative Syndrome, Type Iii	36
889		AGM004	Agammaglobulinemia, Non-Bruton Type	36
890	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	36
891		IND016	Indolent B-Cell Non-Hodgkin Lymphoma	36
892		BLT003	Blue Toe Syndrome	36
893	c	PRM299	Primary Cutaneous B-Cell Lymphoma	36
894		CVR010	Cavernous Malformation	36
895	c	PRM149	Primary Hypereosinophilic Syndrome	35
896	c	ELL005	Elliptocytosis 2	35
897		ACT177	Acute Basophilic Leukemia	35
898		KLL014	Kelley-Seegmiller Syndrome	35
899	c	PRM301	Primary Cutaneous T-Cell Lymphoma	35
900		OST008	Osteosclerotic Myeloma	35
901		WLD007	Waldenstroem's Macroglobulinemia	35
902		HDG005	Hodgkin's Lymphoma, Mixed Cellularity	35
903		MDS019	Mediastinal Malignant Lymphoma	35
904	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	35
905		PHS009	Phosphoglycerate Kinase Deficiency	35
906		GLT005	Glutamate Formiminotransferase Deficiency	35
907		INT038	Interdigitating Dendritic Cell Sarcoma	35
908		PDT001	Pediatric Lymphoma	35
909		NDL020	Nodal Marginal Zone B-Cell Lymphoma	34
910		OMS001	Omsk Hemorrhagic Fever	34
911		VRS001	Virus Associated Hemophagocytic Syndrome	34
912		FLC001	Folic Acid Deficiency Anemia	34
913		ATY012	Atypical Mycobacteriosis, Familial	34
914		MYL067	Myeloproliferative Disorder, Chronic, with Eosinophilia	34
915	c	ELL006	Elliptocytosis 3	34
916		PLM007	Pulmonary Aspergilloma	33
917	c	GLY097	Glycogen Storage Disease Ixb	33
918	c	CNG439	Congenital Lymphedema	33
919		CMP001	Composite Lymphoma	33
920		IMM065	Immunodeficiency 10	33
921		HRD218	Hereditary Stomatocytosis	33
922	c	HRD206	Hereditary Lymphedema Ii	32
923	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	32
924		TCL012	T-Cell/histiocyte Rich Large B Cell Lymphoma	32
925	c	ERY065	Erythrocytosis, Familial, 7	32
926		TRC021	Tricuspid Valve Stenosis	32
927	c	BRG006	Brugada Syndrome 2	32
928	c	ATM097	Autoimmune Lymphoproliferative Syndrome, Type Iia	32
929	c	GCH013	Gaucher Disease, Type Iiic	32
930		RFR009	Refractory Cytopenia with Multilineage Dysplasia	32
931		RFR002	Refractory Hairy Cell Leukemia	32
932		BMB001	Bombay Phenotype	32
933		IMM212	Immunodeficiency by Defective Expression of Mhc Class I	31
934		ALK003	Aleukemic Leukemia Cutis	31
935		PRC051	Paracetamol Poisoning	31
936	c	GLY057	Glycogen Storage Disease X	31
937		IMM055	Immunodeficiency, Common Variable, 8, with Autoimmunity	30
938		SPL060	Splenic Diffuse Red Pulp Small B-Cell Lymphoma	30
939		PRM129	Primary Cutaneous Marginal Zone B-Cell Lymphoma	30
940		NTR006	Neutrophil Immunodeficiency Syndrome	30
941		SVR032	Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation	30
942		BLD052	Blood Group Incompatibility	30
943		LFF001	Loeffler Endocarditis	30
944		FLL042	Folliculotropic Mycosis Fungoides	30
945	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	30
946		MTH079	Methylmalonic Acidemia and Homocysteinemia, Cblx Type	30
947	c	BLD156	Bleeding Disorder, Platelet-Type, 14	29
948	c	LNG098	Long Qt Syndrome 14	29
949	P	SCK034	Sickle Beta Thalassemia	29
950		IMM066	Immunodeficiency 9	29
951	c	GLY009	Glycogen Storage Disease Xv	29
952	c	ADL001	Adult Lymphoma	29
953		IDP001	Idiopathic Cd4-Positive T-Lymphocytopenia	29
954		PLM049	Plummer Vinson Syndrome	29
955		IMM095	Immunodeficiency 35	29
956	c	GLY017	Glycogen Storage Disease Ic	29
957		ALP013	Alpha-Thalassemia Myelodysplasia Syndrome	29
958	c	MLG151	Malignant Hyperthermia 5	28
959		QLT001	Qualitative Platelet Defect	28
960	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	28
961	c	BRG003	Brugada Syndrome 3	28
962		BTT013	Beta-Thalassemia, Dominant Inclusion Body Type	28
963		SMH001	Sm-Ahnmd	28
964	c	BLD154	Bleeding Disorder, Platelet-Type, 12	28
965	c	ATR092	Atrial Fibrillation, Familial, 15	28
966		IMM071	Immunodeficiency 12	27
967		RFR007	Refractory Anemia with Excess Blasts in Transformation	27
968	c	BRG010	Brugada Syndrome 8	27
969	c	GLY023	Glycogen Storage Disease Type 0	27
970	c	BRG004	Brugada Syndrome 4	27
971		IMM191	Immunodeficiency 56	27
972		PLS003	Plasmacytic Leukemia	26
973	c	HRD202	Hereditary Lymphedema I	26
974	c	GLY001	Glycogen Storage Disease Ix	26
975		THR051	Thrombocytopenia with Beta-Thalassemia, X-Linked	26
976		CTN001	Cutaneous Solitary Mastocytoma	26
977	c	BRG009	Brugada Syndrome 7	26
978		HML052	Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency	26
979		FCT032	Factor Xiii, a Subunit, Deficiency of	26
980	c	LNG045	Long Qt Syndrome 10	25
981		7Q1002	7q11.23 Duplication Syndrome	25
982		FCL083	Ficolin 3 Deficiency	25
983		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	25
984	c	GLY059	Glycogen Storage Disease Xiii	25
985		HMP028	Hemophagocytic Syndrome Associated with an Infection	25
986	c	BLD125	Bleeding Disorder, Platelet-Type, 17	25
987	c	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	25
988		IMM077	Immunodeficiency 20	25
989	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	25
990		HSH001	Hashimoto-Pritzker Syndrome	25
991	c	BRG012	Brugada Syndrome 9	24
992		IMM190	Immunodeficiency 55	24
993	c	MLG148	Malignant Hyperthermia 2	24
994		IND003	Indolent Myeloma	24
995		RRD019	Rare Deficiency Anemia	24
996		CMP041	Complement Factor D Deficiency	24
997		IMM134	Immunodeficiency, Common Variable, 13	24
998	c	LNG046	Long Qt Syndrome 11	23
999	c	BLD127	Bleeding Disorder, Platelet-Type, 19	23
1000		MNC020	Monoclonal Mast Cell Activation Syndrome	23
1001	c	ERY031	Erythrocytosis, Familial, 3	23
1002	c	LNG052	Long Qt Syndrome 8	23
1003		NSL004	Nasal Cavity Lymphoma	23
1004	c	BRN132	Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	23
1005	c	THR023	Thrombophilia Due to Thrombomodulin Defect	23
1006	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	23
1007	c	GLY006	Glycogen Storage Disease Viii	23
1008		CRT005	Cortical Thymoma	23
1009		CRB087	Cerebral Arteriosclerosis	23
1010	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	23
1011		CTR107	Cataract 13 with Adult I Phenotype	23
1012		THR120	Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency	23
1013	c	ANM034	Anemia, Sideroblastic, 4	23
1014		ESN023	Eosinophilia, Familial	22
1015	c	ERY064	Erythrocytosis, Familial, 6	22
1016		IMM150	Immunodeficiency 52	22
1017		TCL022	T-Cell Receptor-Alpha/beta Deficiency	22
1018	c	BRG008	Brugada Syndrome 6	22
1019	c	ERY067	Erythrocytosis, Familial, 8	22
1020	c	BLD123	Bleeding Disorder, Platelet-Type, 13	22
1021	c	MLG149	Malignant Hyperthermia 3	21
1022	c	ATM087	Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency	21
1023		MCR309	Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia	21
1024		DRG014	Drug-Induced Autoimmune Hemolytic Anemia	21
1025		ACT234	Acute Myeloid Leukemia with Minimal Differentiation	21
1026		GLL013	Gallbladder Lymphoma	21
1027	c	MLG150	Malignant Hyperthermia 4	21
1028	c	ATR085	Atrial Fibrillation, Familial, 18	21
1029	c	BLD121	Bleeding Disorder, Platelet-Type, 15	21
1030	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	21
1031	c	GLY093	Glycogen Storage Disease Ixa	21
1032		ADN085	Adenylate Kinase Deficiency, Hemolytic Anemia Due to	21
1033	c	NTR045	Neutropenia, Chronic Familial	20
1034	c	ERY032	Erythrocytosis, Familial, 4	20
1035	c	ADL093	Adult Acute Monocytic Leukemia	20
1036		IMM204	Immuno-Osseous Dysplasia	20
1037		MDS006	Mediastinal Gray Zone Lymphoma	20
1038		BSP001	Basophil Adenoma	20
1039		ALK017	Alk-Positive Large B-Cell Lymphoma	20
1040		IMM135	Immunodeficiency 46	20
1041		MNS002	Mini Stroke	20
1042		IMM132	Immunodeficiency Due to a Classical Component Pathway Complement Deficiency	20
1043		LCH010	Lichtenstein Syndrome	20
1044	c	MLG152	Malignant Hyperthermia 6	19
1045		MXD035	Mixed-Type Autoimmune Hemolytic Anemia	19
1046		HRM016	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	19
1047	c	RRH032	Rare Hemolytic Anemia	19
1048		NKD001	Nik Deficiency	19
1049		SBL003	Subleukemic Leukemia	19
1050	c	ATS450	Autosomal Recessive Severe Congenital Neutropenia	19
1051		BND002	B- and T-Cell Mixed Leukemia	19
1052		EPS038	Episodic Angioedema with Eosinophilia	19
1053		THY006	Thymus Lymphoma	19
1054		IMM079	Immunodeficiency, Common Variable, 11	19
1055		STR007	Stress Polycythemia	18
1056	c	ERY063	Erythrocytosis, Familial, 5	18
1057		PRM314	Primary Cutaneous Lymphoma	18
1058		HHV001	Hhv-6 Encephalitis	18
1059		TRC018	Tracheal Lymphoma	18
1060		TLN012	Telangiectasia Macularis Eruptiva Perstans	18
1061		HGH031	High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement	18
1062		LNP001	Loin Pain Hematuria Syndrome	18
1063		ISL085	Isolated Agammaglobulinemia	17
1064		ACT186	Acute Megakaryoblastic Leukemia in Down Syndrome	17
1065		CMB095	Combined T and B Cell Immunodeficiency	17
1066		TRN017	Transient Neonatal Neutropenia	16
1067		HYD045	Hydroa Vacciniforme-Like Lymphoma	16
1068		EPS031	Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly	16
1069	c	RFR015	Refractory Anemia with Excess Blasts Type 1	16
1070		CHL077	Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy	16
1071		PRN002	Paranasal Sinus Lymphoma	15
1072		DNZ002	Dianzani Autoimmune Lymphoproliferative Disease	15
1073		CMB055	Combined Immunodeficiency Due to Crac Channel Dysfunction	14
1074	c	ACQ053	Acquired Neutropenia	14
1075		ACT165	Acute Megakaryoblastic Leukemia Without Down Syndrome	14
1076		NNS057	Non-Severe Combined Immunodeficiency	14
1077		CHR680	Chronic Lymphoproliferative Disorder of Natural Killer Cells	14
1078		ADL095	Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies	13
1079	c	SBC006	Subacute Leukemia	13
1080		CCM002	Cecum Lymphoma	13
1081		STR014	Sternum Lymphoma	13
1082		UNC008	Unclassified Myelodysplastic Syndrome	12
1083		MYL077	Myeloid Hemopathy	12
1084	c	DYS194	Dysautonomia-Like Disorder	12
1085	c	PSD023	Pseudo-Gaucher Disease	12
1086		URT017	Ureteral Lymphoma	11
1087	c	SCN042	Secondary Hypereosinophilic Syndrome	11
1088		ALK014	Aleukemic Mast Cell Leukemia	11
1089		ISL033	Isolated Delta-Storage Pool Disease	11
1090		LYM117	Lymphocytic Hypereosinophilic Syndrome	11
1091	c	HRD203	Hereditary Lymphedema Id	11
1092		TRN013	Transient Neonatal Thrombocytopenia	10
1093	c	SBC015	Subacute Monocytic Leukemia	10
1094	c	IND015	Indolent Primary Cutaneous B-Cell Lymphoma	10
1095		PSD083	Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	10
1096		XLN170	X-Linked Mendelian Susceptibility to Mycobacterial Diseases	9
1097		ALP049	Alopecia Antibody Deficiency	9
1098		MLT143	Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	9
1099		SVR074	Severe Combined Immunodeficiency Due to Ikk2 Deficiency	9
1100	c	RRC006	Rare Acquired Hemolytic Anemia	9
1101		LYM152	Lymphoid Hemopathy	9
1102		INF175	Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome	9
1103		NTR053	Neutropenia-Monocytopenia-Deafness Syndrome	8
1104		NNM003	Non-Amyloid Monoclonal Immunoglobulin Deposition Disease	8
1105		IMM215	Immunodeficiency-Associated Lymphoproliferative Disease	8
1106		SLT002	Solitary Plasmacytoma of Chest Wall	8
1107		PLY128	Polyclonal Hyperviscosity Syndrome	8
1108	P	AGG008	Aggressive Primary Cutaneous T-Cell Lymphoma	8
1109		NDL018	Nodular Urticaria Pigmentosa	8
1110		PRM142	Primary Oculocerebral Lymphoma	8
1111		PRM148	Primary Lymphoma of the Conjunctiva	7
1112		MGK005	Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13)	7
1113	c	RRF001	Rare Form of Salmonellosis	7
1114	c	HRD100	Hereditary Lymphedema Ic	7
1115	c	HRD204	Hereditary Lymphedema Ia	7
1116	P	IND014	Indolent Primary Cutaneous T-Cell Lymphoma	7
1117	c	AGG009	Aggressive Primary Cutaneous B-Cell Lymphoma	7
1118		UNC009	Unclassified Myelodysplastic/myeloproliferative Disease	7
1119	c	PRM130	Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma	7
1120		INT057	Intra-Abdominal Lymph Node Mast Cell Malignancy	6
1121		ANT036	Anti-Hla Hyperimmunization	6
1122		MYC091	Mycosis Fungoides and Variants	6
1123		ATS105	Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency	6
1124		DFF030	Diffuse Large B-Cell Lymphoma with Chronic Inflammation	6
1125	c	HRD205	Hereditary Lymphedema Ib	6
1126		ISL138	Isolated Hereditary Giant Platelet Disorder	6
1127	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	6
1128	c	HML055	Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder	6
1129		DRM001	Dermal Unilateral Segmental Cavernous Angioma	6
1130		LYM119	Lymphoplasmacytic Lymphoma Without Igm Production	6
1131		CLS046	Classic Hodgkin Lymphoma, Lymphocyte-Rich Type	5
1132		IMM217	Immunodeficiency Predominantly Affecting Antibody Production	5
1133		CLS045	Classic Hodgkin Lymphoma, Mixed Cellularity Type	5
1134	c	RRT016	Rare Autonomic Nervous System Disorder	5
1135	c	RRC002	Rare Acquired Aplastic Anemia	5
1136	c	HML056	Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes	5
1137	c	HML057	Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies	5
1138		ACT158	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation	5
1139		TYP022	Typical Urticaria Pigmentosa	5
1140		PRM165	Primary Plasmacytoma of the Bone	5
1141		ATS434	Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency	4
1142		ATS245	Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency	4
1143		CLL008	Cellular Phase Chronic Idiopathic Myelofibrosis	4
1144		SPC020	Specific Antibody Deficiency with Normal Immunoglobulin Concentrations and Normal Numbers of B Cells	4
1145		DNR008	Dna Repair Defect Other Than Combined T-Cell and B-Cell Immunodeficiencies	4
1146		LYM096	Lymphoadenopathic Mastocytosis with Eosinophilia	4
1147		IMM052	Immunodeficiency Due to Absence of Thymus	4
1148	c	RRD027	Rare Disease with Malignant Hyperthermia	4
1149		RRC023	Rare Constitutional Aplastic Anemia	4
1150		LYM154	Lymphoproliferative Disease Associated with Primary Immune Disease	4
1151		MTH001	Methotrexate-Associated Lymphoproliferation	4
1152		HYP626	Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections	4
1153		HYP627	Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections	4
1154		SYN115	Syndromic Agammaglobulinemia	4
1155		IMM203	Immune Dysregulation Disease with Immunodeficiency	3
1156		PRM300	Primary Immunodeficiency Due to a Defect in Adaptive Immunity	3
1157		IMM207	Immunodeficiency with Isotype or Light Chain Deficiencies with Normal Number of B-Cells	3
1158		OTH016	Other Immunodeficiency Syndrome with Predominantly Antibody Defects	3
1159		IMM208	Immunodeficiency with Severe Reduction in Serum Igg and Iga with Normal/elevated Igm and Normal Number of B-Cells	3
1160		SVR102	Severe Combined Immunodeficiency Due to Carmil2 Deficiency	3
1161		IMM216	Immunodeficiency Due to a Complement Cascade Protein Anomaly	3
1162		GNT055	Genetic Susceptibility to Infections Due to Particular Pathogens	3
1163		ALP108	Alpha Granule Disease	3
1164		IMM205	Immunodeficiency Syndrome with Autoimmunity	3
1165		ACQ049	Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease	3
1166		RRC008	Rare Acquired Deficiency Anemia	3
1167		PRM313	Primary Organ-Specific Lymphoma	3
1168		OTH017	Other Immunodeficiency Syndromes Due to Defects in Innate Immunity	3
1169		ATN020	Autoinflammatory Syndrome with Immune Deficiency	3
1170		IMM210	Immunodeficiency Due to a Complement Cascade Component Deficiency	3
1171		IMM211	Immunodeficiency Due to a Complement Regulatory Deficiency	3
1172		PRM338	Primary Immunodeficiency Due to a Defect in Innate Immunity	3
1173		CNS014	Constitutional Deficiency Anemia	2
1174		HST023	Histiocytic and Dendritic Cell Tumor	2
1175		VSC006	Vascular Cancer	52
1176	c	DLT002	Dilated Cardiomyopathy	81
1177	P	VSC007	Vascular Disease	65
1178	c	CRD099	Cardiomyopathy, Dilated, 1e	56
1179		THR013	Thoracic Outlet Syndrome	49
1180	c	CRD097	Cardiomyopathy, Dilated, 1d	46
1181	c	CRD187	Cardiomyopathy, Dilated, 3b	45
1182	P	RRC004	Rare Cardiomyopathy	43
1183	c	CRD093	Cardiomyopathy, Dilated, 1a	43
1184	c	CRD233	Cardiomyopathy, Dilated, 1b	43
1185	c	CRD105	Cardiomyopathy, Dilated, 1o	39
1186	c	CRD104	Cardiomyopathy, Dilated, 1p	33
1187	c	CRD155	Cardiomyopathy, Dilated, 1kk	32
1188	c	CRD102	Cardiomyopathy, Dilated, 1j	32
1189	c	CRD069	Cardiomyopathy, Dilated, 1h	31
1190	c	CRD080	Cardiomyopathy, Dilated, 1g	29
1191	c	CRD107	Cardiomyopathy, Dilated, 1r	28
1192	c	ATM102	Autoimmune Cardiomyopathy	27
1193	c	CRD091	Cardiomyopathy, Dilated, 1dd	26
1194	c	CRD159	Cardiomyopathy, Dilated, 1hh	25
1195	c	CRD149	Cardiomyopathy, Dilated, 1jj	24
1196	c	CRD101	Cardiomyopathy, Dilated, 1x	24
1197	c	CRD090	Cardiomyopathy, Dilated, 1l	24
1198	c	CRD092	Cardiomyopathy, Dilated, 1w	24
1199	c	CRD114	Cardiomyopathy, Dilated, 1m	24
1200	c	CRD115	Cardiomyopathy, Dilated, 1cc	23
1201	c	CRD162	Cardiomyopathy, Dilated, 1ii	23
1202	c	CRD153	Cardiomyopathy, Dilated, 2b	22
1203	c	CRD082	Cardiomyopathy, Dilated, 1gg	22
1204	c	CRD063	Cardiomyopathy, Dilated, 2a	22
1205	c	CRD111	Cardiomyopathy, Dilated, 1i	21
1206	c	CRD173	Cardiomyopathy, Dilated, 1nn	21
1207	c	CRD060	Cardiomyopathy, Dilated, 1z	21
1208	c	CRD096	Cardiomyopathy, Dilated, 1ee	21
1209	c	CRD112	Cardiomyopathy, Dilated, 1u	21
1210	c	CRD113	Cardiomyopathy, Dilated, 1v	20
1211	c	CRD108	Cardiomyopathy, Dilated, 1bb	20
1212	c	CRD244	Cardiomyopathy, Dilated, 2c	19
1213	c	CRD064	Cardiomyopathy, Dilated, 1ff	19
1214	c	RRV009	Rare Vascular Disease	16
1215	c	DLT017	Dilated Cardiomyopathy 1t	14
1216	c	CRD070	Cardiomyopathy, Dilated, 1k	13
1217	c	CRD071	Cardiomyopathy, Dilated, 1q	13
1218		FML155	Familial Acute Myeloid Leukemia with Mutated Cebpa	12
1219	c	CRD027	Cardiomyopathy Due to Anthracyclines	6
1220	P	BLD134	Bladder Cancer	79
1221		PLM134	Pulmonary Fibrosis, Idiopathic	77
1222	c	BLD008	Bladder Carcinoma in Situ	34
1223	P	GST053	Gastric Cancer	85
1224	c	PLM164	Pulmonary Hypertension, Primary, 1	79
1225	P	RSP003	Respiratory Failure	75
1226	P	ART005	Arteriovenous Malformation	63
1227	P	CRG003	Crigler-Najjar Syndrome, Type I	61
1228	P	PTN014	Patent Ductus Arteriosus 1	60
1229		HYP780	Hypoadrenocorticism, Familial	60
1230		HYP052	Hyperkalemic Periodic Paralysis	59
1231		ERY029	Erythermalgia, Primary	58
1232	c	SVR001	Severe Acute Respiratory Syndrome	56
1233	P	RST002	Restrictive Cardiomyopathy	55
1234	P	LFT003	Left Ventricular Noncompaction	55
1235		GYR004	Gyrate Atrophy of Choroid and Retina	52
1236		FRC011	Fructose Intolerance, Hereditary	52
1237		HST006	Histidinemia	49
1238	c	CRG004	Crigler-Najjar Syndrome, Type Ii	48
1239	P	HYP111	Hyperprolinemia	39
1240	c	LFT021	Left Ventricular Noncompaction 1	35
1241	c	HYP248	Hyperprolinemia, Type I	31
1242	c	HYP597	Hyperprolinemia, Type Ii	31
1243	c	CRD176	Cardiomyopathy, Familial Restrictive, 1	29
1244	c	LFT017	Left Ventricular Noncompaction 8	28
1245		BNM005	Bone Marrow Necrosis	26
1246	c	LFT018	Left Ventricular Noncompaction 10	25
1247	c	CRD098	Cardiomyopathy, Familial Restrictive, 3	25
1248	c	HRD215	Hereditary Gastric Cancer	23
1249	c	LFT020	Left Ventricular Noncompaction 7	21
1250	c	LFT011	Left Ventricular Noncompaction 2	17
1251	c	CRD057	Cardiomyopathy, Familial Restrictive, 2	15
1252	c	RRR004	Rare Arteriovenous Malformation	10
1253		IMM167	Immune Deficiency Disease	79
1254		DFC004	Deficiency Anemia	77
1255		SVR004	Severe Combined Immunodeficiency	74
1256		SCK003	Sickle Cell Anemia	74
1257		ACR006	Aceruloplasminemia	74
1258	P	KDN018	Kidney Disease	73
1259		CRB039	Cerebrovascular Disease	71
1260		MLT157	Multiple System Atrophy 1	71
1261	P	NJM001	Nijmegen Breakage Syndrome	70
1262		PLY001	Polycythemia Vera	70
1263	P	CHR012	Chronic Granulomatous Disease	69
1264		MYL005	Myelofibrosis	69
1265	P	LKM062	Leukemia, Acute Lymphoblastic	68
1266	P	HYP098	Hypereosinophilic Syndrome	67
1267	c	FML021	Familial Hypercholesterolemia	67
1268	P	FLL037	Follicular Lymphoma	67
1269	P	THR014	Thrombocytopenia	67
1270		MYC006	Mycosis Fungoides	67
1271	P	AGM001	Agammaglobulinemia	66
1272	P	PLM036	Pulmonary Fibrosis	66
1273	P	NPH012	Nephrotic Syndrome	65
1274		FCT007	Factor Vii Deficiency	65
1275	P	DYS007	Dyskeratosis Congenita	64
1276	P	VNW001	Von Willebrand's Disease	64
1277	c	ALP101	Alpha-Thalassemia	63
1278		SVR066	Severe Combined Immunodeficiency, X-Linked	62
1279		OST003	Osteonecrosis	62
1280	P	THL005	Thalassemia	62
1281		INT066	Interstitial Lung Disease	61
1282	P	BCL017	B-Cell Lymphoma	61
1283	P	ADL010	Adult Respiratory Distress Syndrome	61
1284		IMM174	Immunodeficiency with Hyper-Igm, Type 1	60
1285		LNG108	Langerhans Cell Histiocytosis	60
1286		HYP810	Hypereosinophilic Syndrome, Idiopathic	60
1287	c	ACT073	Acute Leukemia	59
1288		FCT002	Factor Xi Deficiency	59
1289	c	ACT210	Acute Respiratory Distress Syndrome	59
1290	P	WLF004	Wolfram Syndrome	58
1291	c	VNW010	Von Willebrand Disease, Type 2	58
1292		BCL010	B-Cell Expansion with Nfkb and T-Cell Anergy	58
1293		LYM027	Lymphopenia	58
1294		ERY051	Erythroleukemia, Familial	58
1295	c	LKM060	Leukemia, Acute Lymphoblastic 3	57
1296		PLS011	Plasmacytoma	57
1297		PTN001	Patent Foramen Ovale	57
1298		PMS001	Poems Syndrome	57
1299	P	LYM031	Lymphocytic Leukemia	56
1300	P	PLY018	Polycythemia	56
1301	c	WLF013	Wolfram Syndrome 1	56
1302		HNC001	Henoch-Schoenlein Purpura	56
1303	c	ATM082	Autoimmune Lymphoproliferative Syndrome, Type V	55
1304		CYS010	Cystinosis	55
1305		IMM106	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked	55
1306		LG4001	Lig4 Syndrome	55
1307		PLC005	Placental Insufficiency	55
1308	c	LKM070	Leukemia, Acute Monocytic	55
1309		PST046	Post-Transplant Lymphoproliferative Disease	55
1310		PRM042	Primary Effusion Lymphoma	55
1311	c	THR001	Thrombocytopenia Due to Platelet Alloimmunization	55
1312	P	HML001	Hemolytic-Uremic Syndrome	54
1313		INF034	Infective Endocarditis	53
1314		CTS003	Coats Disease	53
1315	P	CNT005	Central Nervous System Lymphoma	52
1316	P	HMG032	Hemoglobin H Disease	52
1317	c	CHR418	Chronic Leukemia	52
1318		ORT008	Orotic Aciduria	51
1319	P	THR015	Thrombophilia	51
1320		FLT011	Felty Syndrome	51
1321		VRC001	Varicocele	51
1322		SVR010	Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation	51
1323		BLD053	Blood Platelet Disease	51
1324	c	TCL005	T-Cell Prolymphocytic Leukemia	50
1325	P	PLM006	Pulmonary Alveolar Proteinosis	50
1326		CHL152	Childhood Acute Lymphocytic Leukemia	50
1327	c	FLL041	Follicular Lymphoma 1	50
1328	c	THR071	Thrombocytopenia 1	50
1329	c	PRM226	Primary Central Nervous System Lymphoma	50
1330	c	LKM056	Leukemia, Chronic Lymphocytic 2	49
1331	c	VNW005	Von Willebrand Disease, Type 1	49
1332		CHL061	Childhood Leukemia	49
1333	P	RNL007	Renal Tubular Acidosis	49
1334		TRC062	Tricuspid Atresia	49
1335		JCB001	Jacobsen Syndrome	48
1336	c	CNG027	Congenital Hemolytic Anemia	48
1337	c	HYP837	Hypercholesterolemia, Familial, 2	48
1338	c	LYM114	Lymphoproliferative Syndrome, X-Linked, 2	48
1339		ACT113	Acute Myeloblastic Leukemia with Maturation	48
1340		LYM051	Lymphomatoid Granulomatosis	47
1341		ZKF001	Zika Fever	46
1342	c	HYP840	Hypercholesterolemia, Familial, 4	46
1343		CNG028	Congenital Hypoplastic Anemia	46
1344		TWN001	Twin-to-Twin Transfusion Syndrome	46
1345		OBS037	Obesity-Hypoventilation Syndrome	46
1346		CMP090	Complement Component 3 Deficiency, Autosomal Recessive	46
1347	P	RTN014	Retinal Artery Occlusion	46
1348		PRL017	Prolymphocytic Leukemia	45
1349		SBC012	Subcorneal Pustular Dermatosis	45
1350	c	PRM038	Primary Agammaglobulinemia	45
1351		STR089	Storage Pool Platelet Disease	45
1352		RTC009	Reticulum Cell Sarcoma	45
1353		CTS005	Catastrophic Antiphospholipid Syndrome	44
1354	c	HYP272	Hypercholesterolemia, Familial, 3	44
1355		NTR003	Natural Killer Cell Leukemia	44
1356		CLL014	Cll/sll	44
1357		BCL002	B Cell Deficiency	44
1358	c	TCL001	T-Cell Adult Acute Lymphocytic Leukemia	44
1359		THY009	Thyroid Lymphoma	43
1360	c	BLC007	Bile Acid Synthesis Defect, Congenital, 1	43
1361	c	HMG003	Hemoglobin E Disease	43
1362		LKC003	Leukocyte Disease	43
1363		LYM052	Lymphomatoid Papulosis	43
1364	c	HMG001	Hemoglobin C Disease	43
1365	c	ACQ010	Acquired Polycythemia	43
1366	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	43
1367		LGH004	Light Chain Deposition Disease	43
1368	c	ACQ017	Acquired Von Willebrand Syndrome	42
1369	c	ADL052	Adult Acute Lymphocytic Leukemia	42
1370		RTR011	Retroperitoneal Fibrosis	41
1371		GLY015	Glycine N-Methyltransferase Deficiency	41
1372	P	FML156	Familial Hyperaldosteronism	41
1373		PLS016	Plasma Cell Leukemia	41
1374		DND018	Dendritic Cell Tumor	41
1375	c	LYM107	Lymphoproliferative Syndrome 2	41
1376	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	41
1377		TNP004	Tn Polyagglutination Syndrome	41
1378	c	CNG002	Congenital Bile Acid Synthesis Defect	40
1379	c	CNT028	Central Retinal Artery Occlusion	40
1380	c	DYS165	Dysfibrinogenemia, Congenital	40
1381		HMN035	Hemangioma-Thrombocytopenia Syndrome	40
1382	c	PLM150	Pulmonary Alveolar Proteinosis, Acquired	39
1383		HNZ004	Heinz Body Anemias	39
1384		LVD003	Livedoid Vasculitis	39
1385	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	39
1386		PRM127	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type	38
1387		WGN003	Wagner Syndrome	38
1388		LNG013	Lung Lymphoma	38
1389	P	HVY001	Heavy Chain Disease	38
1390		NDL024	Nodal Marginal Zone Lymphoma	37
1391	c	AGM024	Agammaglobulinemia 5, Autosomal Dominant	37
1392		FCT034	Factor V and Factor Viii, Combined Deficiency of, 2	37
1393		MTH056	Methylmalonic Aciduria and Homocystinuria, Cblf Type	37
1394		GRH001	Gorham's Disease	36
1395	c	WLF009	Wolfram Syndrome 2	36
1396	c	LYM106	Lymphoproliferative Syndrome 1	36
1397		SLT001	Solitary Osseous Plasmacytoma	36
1398		CNT018	Central Nervous System Leukemia	36
1399	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	36
1400	c	NJM002	Nijmegen Breakage Syndrome-Like Disorder	36
1401	P	TRN016	Transient Hypogammaglobulinemia	36
1402		LTT002	Letterer-Siwe Disease	36
1403		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	36
1404		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	36
1405		TRN030	Transient Erythroblastopenia of Childhood	35
1406		MTR008	Mature B-Cell Neoplasm	35
1407	c	AGM013	Agammaglobulinemia 1, Autosomal Recessive	35
1408		INT020	Intravenous Leiomyomatosis	35
1409	c	ACQ005	Acquired Thrombocytopenia	34
1410	c	HRD171	Hereditary Pulmonary Alveolar Proteinosis	34
1411	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	34
1412		HMC038	Hemochromatosis, Neonatal	34
1413		OVL001	Ovalocytosis, Southeast Asian	34
1414	c	BLC009	Bile Acid Synthesis Defect, Congenital, 4	34
1415		CMP040	Complement Component 4, Partial Deficiency of	34
1416		IMM185	Immunodeficiency 26 with or Without Neurologic Abnormalities	34
1417	P	BCL013	B-Cell Adult Acute Lymphocytic Leukemia	34
1418	c	HMG004	Hemoglobin D Disease	34
1419	P	BNL002	Bone Lymphoma	33
1420		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	33
1421	c	MNS014	Monosomy 22	33
1422	c	BLC011	Bile Acid Synthesis Defect, Congenital, 3	33
1423	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	33
1424		BCL008	B-Cell Childhood Acute Lymphoblastic Leukemia	33
1425		HYP643	Hypohidrotic Ectodermal Dysplasia with Immunodeficiency	33
1426	c	HYP600	Hyperaldosteronism, Familial, Type Ii	32
1427		BLD028	Bladder Lymphoma	32
1428	c	BLC008	Bile Acid Synthesis Defect, Congenital, 2	32
1429		IMM070	Immunodeficiency 13	32
1430		CLN005	Colon Lymphoma	32
1431	c	TRN009	Transient Hypogammaglobulinemia of Infancy	31
1432	c	HYP438	Hyperaldosteronism, Familial, Type Iii	31
1433		CNG134	Congenitally Corrected Transposition of the Great Arteries	31
1434		TKN001	Takenouchi-Kosaki Syndrome	31
1435	P	ATS382	Autosomal Dominant Tubulointerstitial Kidney Disease	31
1436		HGH020	High Molecular Weight Kininogen Deficiency	31
1437	c	INH004	Inherited Blood Coagulation Disease	31
1438	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	31
1439		IMM143	Immunodeficiency 48	30
1440	c	HYP708	Hyperaldosteronism, Familial, Type Iv	30
1441		PRK005	Prekallikrein Deficiency	30
1442	c	LYM151	Lymphoproliferative Syndrome 3	30
1443		CD8002	Cd8 Deficiency, Familial	30
1444		NNT007	Neonatal Leukemia	30
1445	c	CNG020	Congenital Hypogammaglobulinemia	30
1446		IMM068	Immunodeficiency 8	30
1447	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	29
1448		PRS002	Prostate Lymphoma	29
1449	c	THR110	Thrombocytopenia 6	29
1450		ACD001	Acidophil Adenoma	29
1451		PRX008	Paroxysmal Cold Hemoglobinuria	29
1452		HST008	Histiocytic and Dendritic Cell Cancer	28
1453		CLS052	Classic Hairy Cell Leukemia	28
1454	P	PRC017	Precursor Lymphoblastic Lymphoma/leukemia	28
1455		ATS208	Autosomal Dominant Macrothrombocytopenia	28
1456	c	BLD120	Bleeding Disorder, Platelet-Type, 8	27
1457		GRN032	Granulomatous Slack Skin Disease	27
1458		IMM180	Immunodeficiency 28	27
1459		SYS070	Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood	27
1460		RFR004	Refractory Hematologic Cancer	27
1461	c	AGM021	Agammaglobulinemia 2, Autosomal Recessive	27
1462	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	27
1463	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	27
1464		EPT007	Epithelial Malignant Thymoma	27
1465		RLP008	Relapsed/refractory Diffuse Large B-Cell Lymphoma	27
1466	c	MLG144	Malignant Hemangioma	26
1467		HMC042	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	26
1468	c	PTN012	Patent Ductus Arteriosus 3	26
1469		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	26
1470	c	AGM022	Agammaglobulinemia 3, Autosomal Recessive	26
1471	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	26
1472		UNC014	Unicentric Castleman Disease	26
1473		THR097	Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia	26
1474	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	26
1475		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	26
1476		IMM183	Immunodeficiency 32a	26
1477		TBS010	T-B- Severe Combined Immunodeficiency	25
1478	c	MNS008	Monosomy 21	25
1479		IMM075	Immunodeficiency 22	25
1480		BRR004	Baroreflex Failure	25
1481		IMM176	Immunodeficiency with Hyper-Igm, Type 5	25
1482	c	BLD157	Bleeding Disorder, Platelet-Type, 9	25
1483		IMM181	Immunodeficiency 29	25
1484		IMM142	Immunodeficiency 50	24
1485	P	ACT194	Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation	24
1486	c	PLM044	Pulmonary Fibrosis, Familial	24
1487		MSP001	Masp2 Deficiency	24
1488	c	AGM023	Agammaglobulinemia 4, Autosomal Recessive	24
1489	c	AGM020	Agammaglobulinemia 6, Autosomal Recessive	24
1490	c	ATS420	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations	24
1491		ACT176	Acute Panmyelosis with Myelofibrosis	24
1492		IMM076	Immunodeficiency 24	24
1493	c	AGM015	Agammaglobulinemia 7, Autosomal Recessive	24
1494	c	ADL080	Adult Acute Respiratory Distress Syndrome	24
1495		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	23
1496	P	PLM064	Pulmonary Sequestration	23
1497		HML054	Hemolytic Disease Due to Fetomaternal Alloimmunization	23
1498	c	BNM032	Bone Marrow Failure Syndrome 4	23
1499		IMM099	Immunodeficiency 33	23
1500		IMM186	Immunodeficiency 27b	23
1501		IMM118	Immunodeficiency 42	23
1502		AGG011	Aggressive B-Cell Non-Hodgkin Lymphoma	23
1503	P	HMG026	Hemoglobin E-Beta-Thalassemia Syndrome	23
1504	c	SCN051	Secondary Pulmonary Alveolar Proteinosis	23
1505		TMP008	Tempi Syndrome	22
1506		SPC022	Specific Antibody Deficiency	22
1507	c	BNM011	Bone Marrow Failure Syndrome 2	22
1508	c	CNG578	Congenital Hemangioma	22
1509	c	BLC018	Bile Acid Synthesis Defect, Congenital, 6	22
1510	c	PRC004	Precursor B Lymphoblastic Lymphoma/leukemia	22
1511	c	PTN013	Patent Ductus Arteriosus 2	22
1512	c	TCL008	T-Cell Lymphoma 1a	22
1513		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	21
1514	P	FML048	Familial Avascular Necrosis of the Femoral Head	21
1515	c	BNM033	Bone Marrow Failure Syndrome 5	21
1516		SLC003	Selective Igm Deficiency Disease	21
1517		WRM004	Warm Antibody Hemolytic Anemia	20
1518		RFM002	Roifman-Chitayat Syndrome	20
1519		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	20
1520	c	BLD133	Bleeding Disorder, Platelet-Type, 20	20
1521		IMM029	Immunodeficiency Due to Defect in Mapbp-Interacting Protein	20
1522	c	PRM151	Primary Bone Lymphoma	20
1523		IMM128	Immunodeficiency Due to a Late Component of Complement Deficiency	20
1524	c	AGM017	Agammaglobulinemia 8, Autosomal Dominant	20
1525	P	DSR081	Disorder of Bile Acid Synthesis	19
1526	c	ACQ004	Acquired Hemangioma	19
1527	c	BLC016	Bile Acid Synthesis Defect, Congenital, 5	19
1528	c	HMG027	Hemoglobin C-Beta-Thalassemia Syndrome	19
1529	c	CNG121	Congenital Pulmonary Alveolar Proteinosis	19
1530		MLY011	Maleylacetoacetate Isomerase Deficiency	19
1531	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	19
1532		TCL018	T-Cell Childhood Acute Lymphocytic Leukemia	18
1533		GLT036	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to	18
1534	c	ATS419	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations	18
1535		KPS005	Kaposiform Lymphangiomatosis	18
1536	P	ATS469	Autosomal Monosomy	18
1537	c	MNS011	Monosomy 9q22.3	17
1538		MTH049	Methotrexate-Associated Lymphoproliferative Disorders	17
1539		MCR125	Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related	17
1540		MLT037	Multifocal Lymphangioendotheliomatosis with Thrombocytopenia	17
1541	c	LKM055	Leukemia, Acute Lymphoblastic 2	17
1542		TBS005	T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta	16
1543		IMM130	Immunoneurologic Disorder, X-Linked	16
1544		RRC033	Rare Coagulation Disorder	16
1545		ERY007	Erythropoietin Polycythemia	16
1546		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	16
1547		PRM247	Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection	15
1548		HMG028	Hemoglobin Lepore-Beta-Thalassemia Syndrome	15
1549		APP002	Appendix Lymphoma	15
1550	c	ACT190	Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation	15
1551	c	RNL117	Renal Tubular Acidosis Iii	14
1552		LGH014	Light and Heavy Chain Deposition Disease	14
1553		ACT179	Acute Myeloid Leukemia with 11q23 Abnormalities	14
1554		PRM131	Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma	14
1555		SYS063	Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood	13
1556		MYL018	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	13
1557	c	LKM052	Leukemia, Chronic Lymphocytic 5	13
1558	c	ATS404	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations	13
1559		ACQ051	Acquired Prothrombin Deficiency	13
1560		PNC007	Pancreas Lymphoma	12
1561		RCT002	Rectum Lymphoma	12
1562	c	LKM053	Leukemia, Chronic Lymphocytic 4	12
1563		WHT007	White Platelet Syndrome	12
1564		ISL032	Isolated Bone Marrow Mastocytosis	12
1565	c	LKM051	Leukemia, Chronic Lymphocytic 3	11
1566	c	GRN044	Granulomatous Disease, Chronic, Autosomal Dominant Type	11
1567		HMG024	Hemoglobinopathy Toms River	11
1568	c	PRM152	Primary Renal Tubular Acidosis	11
1569		RFR001	Refractory Plasma Cell Neoplasm	11
1570		ALK002	Aleukemic Monocytic Leukemia Cutis	11
1571		BLL014	Bullous Diffuse Cutaneous Mastocytosis	11
1572	c	LKM050	Leukemia, Chronic Lymphocytic 1	11
1573	c	CNG257	Congenital Pulmonary Sequestration	10
1574		THM022	Thumb Agenesis, Short Stature, and Immunodeficiency	10
1575	c	FML317	Familial Monosomy 7 Syndrome	10
1576	c	LCL003	Localized Pulmonary Fibrosis	10
1577	c	RRP004	Rare Primary Hyperaldosteronism	10
1578		CVR004	Cavernous Hemangioma of Colon	9
1579		TMR024	Tumor of Hematopoietic and Lymphoid Tissues	9
1580	c	HRD112	Hereditary Thrombocytopenia with Normal Platelets	9
1581		UNS001	Unstable Hemoglobin Disease	9
1582		MYL060	Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement	9
1583		MDC003	Medich Giant Platelet Syndrome	8
1584		BTT010	Beta-Thalassemia Associated with Another Hemoglobin Anomaly	8
1585		TCL019	T-Cell Childhood Lymphoblastic Lymphoma	7
1586	c	ALP107	Alpha-Thalassemia and Related Diseases	7
1587	c	RRH022	Rare Hereditary Thrombophilia	7
1588		ANS007	Anus Lymphoma	6
1589		SCK036	Sickle Cell Disease Associated with an Other Hemoglobin Anomaly	6
1590	P	ATS205	Autosomal Thrombocytopenia with Normal Platelets	6
1591	c	FML158	Familial Hemangioma	6
1592		ACT199	Acute Myeloid Leukemia with Npm1 Somatic Mutations	6
1593	c	ATY048	Atypical Hemolytic Uremic Syndrome with H Factor Anomaly	6
1594	c	BTT015	Beta-Thalassemia and Related Diseases	5
1595		MYL062	Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities	5
1596	P	RRH027	Rare Hypercholesterolemia	5
1597	c	ATS423	Autosomal Dominant Wolfram Syndrome	5
1598		ISL142	Isolated Constitutional Thrombocytopenia	5
1599		ACT184	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent	5
1600		ACT185	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor	5
1601	P	CNS016	Constitutional Megaloblastic Anemia Due to Vitamin B12 Metabolism Disorder	5
1602	c	RRC031	Rare Constitutional Hemolytic Anemia Due to an Enzyme Disorder	5
1603		IMM197	Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome	5
1604	c	TTL014	Total Autosomal Monosomy	4
1605	c	DPL004	D-Plus Hemolytic Uremic Syndrome	4
1606		CNG172	Congenital Vascular Cavernous Malformations	4
1607		VSC022	Vascular Erectile Tumor	4
1608	P	RRC007	Rare Constitutional Hemolytic Anemia	4
1609		CLS019	Classic Mast Cell Leukemia	4
1610		MYL076	Myeloid/lymphoid Neoplasms Associated with Eosinophilia and Abnormality of Pdgfra, Pdgfrb or Fgfr1	4
1611	c	CNS020	Constitutional Anemia Due to Iron Metabolism Disorder	4
1612	c	RRT008	Rare Thrombotic Disorder Due to an Acquired Coagulation Factors Defect	3
1613		MCR178	Macrothrombocytopenia with Mitral Valve Insufficiency	3
1614		BTT008	Beta-Thalassemia with Other Manifestations	3
1615		SYN123	Syndromic Constitutional Thrombocytopenia	3
1616	c	CNS017	Constitutional Megaloblastic Anemia Due to Folate Metabolism Disorder	3
1617	P	RRC005	Rare Constitutional Anemia	3
1618		RRT004	Rare Thrombotic Disease of Hematologic Origin	3
1619		PRM326	Primary Immunodeficiency with Predisposition to Severe Viral Infection	3
1620		IMM213	Immune Dysregulation with Inflammatory Bowel Disease	3
1621		CNS015	Constitutional Neutropenia with Extra-Hematopoietic Manifestations	3
1622	c	RRC032	Rare Constitutional Hemolytic Anemia Due to a Red Cell Membrane Anomaly	3
1623		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	58
1624		MYL064	Myeloproliferative/lymphoproliferative Neoplasms, Familial	24
1625	P	PHC003	Pheochromocytoma	71
1626	P	HYP061	Hypertrophic Cardiomyopathy	68
1627	c	CRD086	Cardiomyopathy, Familial Hypertrophic, 1	68
1628		PNL019	Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities	54
1629	c	CRD065	Cardiomyopathy, Familial Hypertrophic, 2	48
1630	c	CRD085	Cardiomyopathy, Familial Hypertrophic, 4	43
1631	c	CRD147	Cardiomyopathy, Familial Hypertrophic, 20	42
1632	c	MLG157	Malignant Pheochromocytoma	40
1633	c	CRD079	Cardiomyopathy, Familial Hypertrophic, 9	39
1634	c	CRD232	Cardiomyopathy, Familial Hypertrophic, 6	37
1635	c	SPR094	Sporadic Pheochromocytoma	33
1636	c	CRD222	Cardiomyopathy, Familial Hypertrophic, 26	32
1637	c	CRD087	Cardiomyopathy, Familial Hypertrophic, 10	30
1638	c	CRD089	Cardiomyopathy, Familial Hypertrophic, 14	29
1639	c	CRD219	Cardiomyopathy, Infantile Hypertrophic	29
1640	c	CRD061	Cardiomyopathy, Familial Hypertrophic, 13	29
1641	c	CRD088	Cardiomyopathy, Familial Hypertrophic, 8	28
1642	c	CRD081	Cardiomyopathy, Familial Hypertrophic, 12	28
1643	c	CRD238	Cardiomyopathy, Familial Hypertrophic, 17	28
1644	c	CRD083	Cardiomyopathy, Familial Hypertrophic, 15	27
1645	c	CRD056	Cardiomyopathy, Familial Hypertrophic, 11	27
1646	c	CRD062	Cardiomyopathy, Familial Hypertrophic, 7	27
1647	c	CRD236	Cardiomyopathy, Familial Hypertrophic, 25	26
1648	c	CRD148	Cardiomyopathy, Familial Hypertrophic, 16	26
1649	c	CRD058	Cardiomyopathy, Familial Hypertrophic, 3	26
1650	c	CRD150	Cardiomyopathy, Familial Hypertrophic, 18	25
1651	c	CRD242	Cardiomyopathy, Familial Hypertrophic 27	24
1652	c	CRD152	Cardiomyopathy, Familial Hypertrophic, 21	21
1653	c	RRF013	Rare Familial Disorder with Hypertrophic Cardiomyopathy	7
1654	c	HYP486	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training	5
1655	P	CLR023	Colorectal Cancer	100
1656	P	WSK001	Wiskott-Aldrich Syndrome	71
1657	P	FML018	Familial Mediterranean Fever	70
1658	c	WLM013	Wilms Tumor 1	69
1659	c	EXD008	Exudative Vitreoretinopathy 1	69
1660		LYM007	Lymphangioleiomyomatosis	67
1661	P	BRL012	Bare Lymphocyte Syndrome, Type Ii	66
1662		GST106	Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets	64
1663		HMT002	Hematologic Cancer	64
1664		CNC002	Cinca Syndrome	63
1665	c	WLM018	Wilms Tumor 5	63
1666		PPL049	Papillon-Lefevre Syndrome	63
1667		LYM012	Lymphoplasmacytic Lymphoma	62
1668	c	AFB002	Afibrinogenemia, Congenital	62
1669	P	LYM033	Lymphoproliferative Syndrome	62
1670	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	62
1671	c	PSD108	Pseudohypoparathyroidism, Type Ia	61
1672		TKY002	Takayasu Arteritis	61
1673	P	BRN019	Bernard-Soulier Syndrome	60
1674		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	60
1675	P	CTS001	Cutis Laxa	60
1676		STF001	Stiff-Person Syndrome	60
1677		ANG020	Angiosarcoma	59
1678		SZR001	Sezary's Disease	59
1679	c	SVR003	Severe Congenital Neutropenia	59
1680		GRY002	Gray Platelet Syndrome	59
1681		IRN001	Iron Deficiency Anemia	59
1682		DSS009	Disseminated Intravascular Coagulation	58
1683		PYR041	Pyruvate Kinase Deficiency of Red Cells	58
1684		STR081	Stormorken Syndrome	58
1685		CHN016	Cohen Syndrome	57
1686		ANT009	Antithrombin Iii Deficiency	57
1687	P	EXD001	Exudative Vitreoretinopathy	56
1688		DBT010	Diabetic Neuropathy	56
1689		WHM001	Whim Syndrome	55
1690		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	55
1691		PRP082	Porphyria, Congenital Erythropoietic	55
1692		MRG003	Marginal Zone B-Cell Lymphoma	55
1693	P	PSD015	Pseudohypoparathyroidism	54
1694	P	HST010	Histiocytosis	54
1695		FCT004	Factor Xii Deficiency	54
1696	P	HYP050	Hyperinsulinemic Hypoglycemia	54
1697	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	54
1698	P	MYS079	Miyoshi Muscular Dystrophy	53
1699		SPR004	Supravalvular Aortic Stenosis	52
1700		BRT005	Barth Syndrome	52
1701	c	MYS033	Miyoshi Muscular Dystrophy 1	52
1702		RVS001	Revesz Syndrome	52
1703	c	MLG054	Malignant Histiocytosis	51
1704		HYP088	Hyper-Igd Syndrome	51
1705	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	51
1706		HYP081	Hypolipoproteinemia	51
1707		IRK001	Irak4 Deficiency	51
1708	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	51
1709		URC002	Urea Cycle Disorder	51
1710		IMM064	Immunodeficiency, Common Variable, 10	51
1711	c	PSD066	Pseudohypoparathyroidism, Type Ib	51
1712		MYD002	Myd88 Deficiency	50
1713		FCT005	Factor Xiii Deficiency	50
1714		CSP005	Caspase 8 Deficiency	50
1715		PRT014	Protein S Deficiency	50
1716		ATY042	Atypical Chronic Myeloid Leukemia	50
1717		HMG002	Hemoglobinuria	49
1718		PRC049	Precursor T-Cell Acute Lymphoblastic Leukemia	49
1719		INT017	Intestinal Schistosomiasis	49
1720		MST002	Mast-Cell Leukemia	49
1721	c	ATS393	Autosomal Recessive Cutis Laxa Type I	49
1722		SVR096	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	49
1723		CRY008	Cryopyrin-Associated Periodic Syndrome	48
1724		SPL004	Splenic Marginal Zone Lymphoma	48
1725		CHR001	Churg-Strauss Syndrome	48
1726		PLS025	Plasmablastic Lymphoma	48
1727	c	FML053	Familial Colorectal Cancer	48
1728	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	48
1729	P	KRN004	Kernicterus	47
1730		HRP009	Herpes Simplex Encephalitis	47
1731		HNN001	Hennekam Syndrome	47
1732		TTR005	Tetrahydrobiopterin Deficiency	47
1733		RDD003	Riddle Syndrome	46
1734		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	46
1735		CMP004	Complement Factor I Deficiency	46
1736	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	46
1737	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	45
1738		NNK001	Nonaka Myopathy	45
1739		MYH015	Myh-9 Related Disease	45
1740	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	45
1741		ASP026	Asplenia, Isolated Congenital	45
1742	c	CTS045	Cutis Laxa, Autosomal Dominant 1	44
1743		EVN001	Evans' Syndrome	44
1744		TRS021	Triosephosphate Isomerase Deficiency	44
1745	c	BRL011	Bare Lymphocyte Syndrome, Type I	44
1746		FTL012	Fetal and Neonatal Alloimmune Thrombocytopenia	43
1747	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	43
1748		PYG003	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne	43
1749	c	MYS014	Miyoshi Muscular Dystrophy 3	43
1750		IMM105	Immunodeficiency with Hyper-Igm, Type 3	43
1751		NCT003	N-Acetylglutamate Synthase Deficiency	42
1752		IMM015	Immune Defect Due to Absence of Thymus	42
1753		RTN021	Retinal Vascular Occlusion	42
1754	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	42
1755		FLL013	Follicular Dendritic Cell Sarcoma	42
1756		GST020	Gastric Antral Vascular Ectasia	42
1757	P	8P1002	8p11 Myeloproliferative Syndrome	41
1758	c	FML253	Familial Cold Autoinflammatory Syndrome 3	41
1759		ALP093	Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related	41
1760	c	HYP829	Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	40
1761		PLM068	Pulmonary Vein Stenosis	40
1762		FML330	Familial Lcat Deficiency	40
1763	c	CLR085	Colorectal Cancer 1	40
1764		GDS001	Good Syndrome	40
1765	P	BCL005	B Cell Prolymphocytic Leukemia	40
1766	c	HYP847	Hyper Ige Recurrent Infection Syndrome 1	40
1767	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	39
1768	c	MYL058	Myeloproliferative Syndrome, Transient	39
1769		IMM104	Immunodeficiency with Hyper-Igm, Type 2	39
1770	c	HRM011	Hermansky-Pudlak Syndrome 8	39
1771		EXT007	Extracutaneous Mastocytoma	39
1772		IMM166	Immunodeficiency 27a	39
1773		HYP223	Hypoplastic Right Heart Syndrome	38
1774		MJD001	Majeed Syndrome	38
1775	c	ANM035	Anemia, Hypochromic Microcytic, with Iron Overload 1	38
1776		PLT019	Platelet Disorder, Familial, with Associated Myeloid Malignancy	38
1777	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	38
1778	c	PSD117	Pseudohypoparathyroidism, Type Ic	38
1779	c	WLM011	Wilms Tumor 6	38
1780		SML008	Small Intestine Lymphoma	37
1781		2MT003	2-Methylbutyryl-Coa Dehydrogenase Deficiency	37
1782	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
1783		CHR286	Chronic Neutrophilic Leukemia	36
1784	c	FML311	Familial Colorectal Cancer Type X	36
1785		GLY032	Glycosylphosphatidylinositol Deficiency	36
1786	c	CLR087	Colorectal Cancer 12	35
1787	c	HRM010	Hermansky-Pudlak Syndrome 7	35
1788		IMM131	Immunodeficiency with Hyper-Igm, Type 4	35
1789	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
1790	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
1791		ACT114	Acute Myeloblastic Leukemia Without Maturation	34
1792		ISL122	Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia	34
1793		IMM122	Immunodeficiency 41 with Lymphoproliferation and Autoimmunity	33
1794	c	CLR077	Colorectal Cancer 10	33
1795		LYM014	Lymphangitis	32
1796		IMM178	Immunodeficiency 31b	32
1797		IMM100	Immunoglobulin Kappa Light Chain Deficiency	32
1798		CMB011	Combined Malonic and Methylmalonic Aciduria	32
1799	c	CLR075	Colorectal Cancer 3	32
1800		HML042	Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy	32
1801		GRY001	Gray Zone Lymphoma	31
1802	c	PSD104	Pseudohypoparathyroidism, Type Ii	31
1803		IMM062	Immunodeficiency 11	31
1804		IMM096	Immunodeficiency 30	31
1805	c	CLR080	Colorectal Cancer 5	31
1806	c	EXD004	Exudative Vitreoretinopathy 4	31
1807	c	SNG011	Singleton-Merten Syndrome 1	31
1808		PHS014	Phosphoglycerate Kinase 1 Deficiency	31
1809		THR068	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	31
1810	c	GLY043	Glycogen Storage Disease Xii	30
1811	P	SNG014	Singleton-Merten Syndrome	30
1812		GLY111	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib	30
1813		INF158	Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations	29
1814		NLL001	Null-Cell Leukemia	29
1815		HYP766	Hyperbilirubinemia, Transient Familial Neonatal	29
1816	c	CLR079	Colorectal Cancer 2	29
1817		HDG003	Hodgkin's Lymphoma, Lymphocytic Depletion	28
1818		RNL054	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	28
1819	c	CTS031	Cutis Laxa, Autosomal Dominant 2	28
1820		GRW003	Growth Hormone Insensitivity with Immunodeficiency	28
1821		SPN125	Spondyloenchondrodysplasia	28
1822	c	ALP087	Alpha-Heavy Chain Disease	27
1823	c	WLM005	Wilms Tumor 2	27
1824		TCL021	T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations	27
1825		CHR375	Chromosome 8p11 Myeloproliferative Syndrome	27
1826	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	27
1827		CTN027	Cutaneous Mastocytoma	27
1828		DFF029	Diffuse Large B-Cell Lymphoma of the Central Nervous System	27
1829	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
1830	c	CTS041	Cutis Laxa, Autosomal Dominant 3	26
1831	P	HRD009	Hereditary Wilms' Tumor	26
1832		CNT010	Central Nervous System Hematologic Cancer	26
1833	c	ACQ027	Acquired Cutis Laxa	26
1834		ECT103	Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	25
1835		IMM074	Immunodeficiency 16	25
1836		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	25
1837		THR101	Thrombocytopenia, Paris-Trousseau Type	25
1838		SYS059	Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease	25
1839		IMM187	Immunodeficiency 38 with Basal Ganglia Calcification	25
1840		SPN026	Spinal Cord Lymphoma	25
1841		ADL082	Adult Pulmonary Langerhans Cell Histiocytosis	24
1842	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	24
1843	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	24
1844		IMM182	Immunodeficiency 31a	24
1845	c	WSK002	Wiskott-Aldrich Syndrome 2	23
1846		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	23
1847	c	HYP833	Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	23
1848	c	EXD006	Exudative Vitreoretinopathy 5	23
1849		ALP085	Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	23
1850	c	BLD126	Bleeding Disorder, Platelet-Type, 18	22
1851	c	CLR082	Colorectal Cancer 7	22
1852		CMB047	Combined Oxidative Phosphorylation Deficiency 18	22
1853		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	22
1854	c	CLR081	Colorectal Cancer 6	22
1855	c	ATS451	Autosomal Recessive Cutis Laxa Type 2	22
1856	c	MYS019	Miyoshi Muscular Dystrophy 2	21
1857		IND009	Indeterminate Cell Histiocytosis	21
1858	c	EXD010	Exudative Vitreoretinopathy 6	21
1859	c	EXD007	Exudative Vitreoretinopathy 3	21
1860	c	CLR083	Colorectal Cancer 8	20
1861	c	SNG012	Singleton-Merten Syndrome 2	20
1862	c	EXD012	Exudative Vitreoretinopathy 7	20
1863		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	19
1864		PLG010	Pelger-Huet Anomaly with Mild Skeletal Anomalies	19
1865		IMM172	Immunodeficiency 34	19
1866		PRM133	Primary Pulmonary Lymphoma	18
1867	c	WLM015	Wilms Tumor 3	18
1868	c	WLM017	Wilms Tumor 4	18
1869		AGM003	Agammaglobulinemia, Microcephaly, and Severe Dermatitis	17
1870		CHR673	Chromosome 14q32 Duplication Syndrome, 700-Kb	17
1871		SCK020	Sickle Cell - Hemoglobin D Disease	16
1872		PRM132	Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma	16
1873	c	CLR084	Colorectal Cancer 9	16
1874		HRD160	Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors	15
1875	c	CLR078	Colorectal Cancer 11	15
1876		ACT196	Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2)	15
1877		SVR099	Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency	15
1878	c	HYP845	Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive	15
1879		PRM250	Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified	14
1880		CNG530	Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	13
1881	c	WSK003	Wiskott-Aldrich Syndrome, Autosomal Dominant Form	12
1882	c	MYL070	Myeloproliferative Disease, Autosomal Recessive	10
1883		ATY044	Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly	10
1884	c	FML094	Familial Wilms Tumor 2	9
1885		MYL061	Myeloid Neoplasms Associated with Pdgfrb Rearrangement	8
1886		SMP006	Simple Cryoglobulinemia	8
1887	c	KRN003	Kernicterus Due to Isoimmunization	8
1888		PRM144	Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease	8
1889		21Q001	21q22.11q22.12 Microdeletion Syndrome	7
1890		THR043	Thrombomodulin Anomalies, Familial	6
1891		PST004	Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma	6
1892		PRG005	Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma	6
1893		MYL065	Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement	6
1894		CHL029	Childhood Precursor T-Lymphoblastic Lymphoma/leukemia	5
1895		PRC009	Precursor T-Lymphoblastic Lymphoma/leukemia Refractory	5
1896	c	RRT005	Rare Thrombotic Disorder Due to an Acquired Platelet Anomaly	3
1897	c	RRT006	Rare Thrombotic Disorder Due to a Constitutional Platelet Anomaly	3
1898	c	RRT007	Rare Thrombotic Disorder Due to a Platelet Anomaly	3
1899	c	RRT009	Rare Thrombotic Disorder Due to a Constitutional Coagulation Factors Defect	3
1900	c	RRT010	Rare Thrombotic Disorder Due to a Coagulation Factors Defect	3
1901	c	LKM071	Leukemia, Chronic Lymphocytic	81
1902		LYM143	Lymphoma, Non-Hodgkin, Familial	74
1903	P	AMY004	Amyloidosis	71
1904		LYM133	Lymphoma, Hodgkin, Classic	70
1905	c	JVN004	Juvenile Myelomonocytic Leukemia	68
1906		CHD001	Chediak-Higashi Syndrome	68
1907	c	MCL062	Mucolipidosis Ii Alpha/beta	67
1908	c	PRD013	Periodic Fever, Familial, Autosomal Dominant	67
1909	c	CNG411	Congenital Disorder of Glycosylation, Type in	66
1910		GLN010	Glanzmann Thrombasthenia	66
1911		MYL031	Myeloproliferative Neoplasm	66
1912		ALP100	Alpha-Thalassemia/mental Retardation Syndrome, X-Linked	65
1913		MGK001	Megakaryocytic Leukemia	65
1914		LKC009	Leukocyte Adhesion Deficiency, Type I	64
1915	P	ANP001	Anaplastic Large Cell Lymphoma	62
1916	P	CND004	Candidiasis	61
1917	c	MCL013	Mucolipidosis Iv	60
1918	P	EPD083	Epidermodysplasia Verruciformis 1	59
1919		NTH001	Netherton Syndrome	59
1920		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	58
1921	c	MCL046	Mucolipidosis Iii Alpha/beta	58
1922		TCL023	T-Cell Lymphoma, Subcutaneous Panniculitis-Like	57
1923		DFF005	Diffuse Large B-Cell Lymphoma	56
1924		CRN295	Carnitine Palmitoyltransferase I Deficiency	55
1925		HYD038	Hydrops Fetalis, Nonimmune	55
1926	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	55
1927		SPT004	Septic Arthritis	55
1928	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
1929		LYM040	Lymphoblastic Lymphoma	54
1930		IMM102	Immunodeficiency 14	54
1931		PLM017	Pulmonary Alveolar Microlithiasis	54
1932	P	PRS049	Persistent Mullerian Duct Syndrome	53
1933	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	52
1934		RTC002	Reticular Dysgenesis	52
1935	c	AMG001	Amegakaryocytic Thrombocytopenia, Congenital	51
1936	c	NNS007	Nonsyndromic Deafness	51
1937	c	ALM001	Al Amyloidosis	50
1938		MNC006	Monoclonal Gammopathy of Uncertain Significance	50
1939	c	AMY009	Amyloidosis Aa	50
1940		MYL075	Myelodysplastic/myeloproliferative Neoplasm	50
1941		RSS025	Ras-Associated Autoimmune Leukoproliferative Disorder	50
1942	P	MTH008	Methylmalonic Acidemia	50
1943	c	PSR021	Psoriasis 14, Pustular	50
1944		HYD012	Hydrops Fetalis	49
1945		DPM001	Dopamine Beta-Hydroxylase Deficiency	49
1946	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	48
1947		IMM184	Immunodeficiency 17	48
1948		SCT005	Scott Syndrome	48
1949		HYR002	Hoyeraal Hreidarsson Syndrome	48
1950	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	48
1951	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	47
1952		GLY014	Glycerol Kinase Deficiency	47
1953		MCL009	Mcleod Syndrome	47
1954	P	MCL001	Mucolipidosis	46
1955		TCL002	T-Cell Large Granular Lymphocyte Leukemia	46
1956	c	HRD039	Hereditary Amyloidosis	46
1957		SVR095	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency	46
1958	P	PRN026	Porencephaly	46
1959		HYP236	Hyperbilirubinemia, Rotor Type	46
1960		PLS029	Plasminogen Activator Inhibitor-1 Deficiency	45
1961	c	PLM170	Pulmonary Venoocclusive Disease 1, Autosomal Dominant	45
1962	c	PSD092	Pseudohypoaldosteronism, Type Iie	45
1963	c	DFN097	Deafness, Autosomal Recessive 1a	45
1964		LRG008	Large Granular Lymphocyte Leukemia	45
1965	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	45
1966	c	TYR013	Tyrosinemia, Type Ii	45
1967	c	DFN250	Deafness, Autosomal Recessive 2	45
1968		THR009	Thrombocytopenia-Absent Radius Syndrome	44
1969		FML075	Familial Isolated Hyperparathyroidism	44
1970	P	ERY008	Erythromelalgia	44
1971	c	MCL016	Mucolipidosis Iii Gamma	44
1972	P	PLM085	Pulmonary Hemosiderosis	43
1973	c	DFN354	Deafness, Autosomal Dominant 20	42
1974	c	DFN196	Deafness, Autosomal Dominant 22	42
1975	c	DFN351	Deafness, Autosomal Dominant 6	42
1976	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	42
1977	P	PLM025	Pulmonary Venoocclusive Disease	42
1978	c	DFN107	Deafness, Autosomal Dominant 10	42
1979	c	DFN131	Deafness, Autosomal Dominant 1	41
1980		DHY016	Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema	41
1981	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	41
1982		IMM078	Immunodeficiency 21	41
1983	c	DFN251	Deafness, Autosomal Dominant 11	41
1984	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	41
1985	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	41
1986	c	DFN141	Deafness, Autosomal Recessive 12	40
1987	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	40
1988	c	DFN203	Deafness, Autosomal Recessive 30	40
1989	c	DFN197	Deafness, Autosomal Recessive 37	40
1990	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	40
1991		OVR093	Overhydrated Hereditary Stomatocytosis	40
1992	c	DFN200	Deafness, Autosomal Dominant 17	40
1993	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	40
1994	P	PST059	Pustular Psoriasis	39
1995	c	DFN117	Deafness, Autosomal Dominant 15	39
1996	c	HRM012	Hermansky-Pudlak Syndrome 9	39
1997		HPT070	Hepatosplenic T-Cell Lymphoma	39
1998		LYM042	Lymphocytic Colitis	39
1999	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	39
2000	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	38
2001	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	38
2002	c	DFN133	Deafness, Autosomal Recessive 9	38
2003	c	DFN202	Deafness, Autosomal Dominant 48	38
2004	c	DFN190	Deafness, Autosomal Dominant 2a	38
2005	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	38
2006		FLT009	Folate Malabsorption, Hereditary	38
2007	c	DFN136	Deafness, Autosomal Dominant 9	38
2008	c	DFN093	Deafness, Autosomal Recessive 23	37
2009	c	DFN124	Deafness, Autosomal Recessive 6	37
2010	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	37
2011	c	DFN360	Deafness, Autosomal Dominant 69	37
2012		MLN011	Malonyl-Coa Decarboxylase Deficiency	37
2013	c	DFN137	Deafness, Autosomal Dominant 13	37
2014	c	DFN168	Deafness, Autosomal Recessive 26	37
2015	c	DFN201	Deafness, Autosomal Recessive 3	36
2016	c	DFN092	Deafness, Autosomal Recessive 49	36
2017	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	36
2018	c	DFN252	Deafness, Autosomal Recessive 24	36
2019		LYM094	Lymphedema, Primary, with Myelodysplasia	36
2020	c	DFN128	Deafness, Autosomal Dominant 36	36
2021	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
2022	c	DFN353	Deafness, Autosomal Dominant 12	36
2023	c	DFN143	Deafness, Autosomal Recessive 16	36
2024		CRD017	Cardiac Valvular Dysplasia, X-Linked	36
2025	c	CNG195	Congenital Disorder of Glycosylation, Type Id	35
2026		CMB022	Combined Cellular and Humoral Immune Defects with Granulomas	35
2027	c	CNG199	Congenital Disorder of Glycosylation, Type Im	35
2028	c	DFN114	Deafness, Autosomal Recessive 67	35
2029		DLF001	Dieulafoy Lesion	35
2030	c	DFN121	Deafness, Autosomal Recessive 28	34
2031	c	DFN330	Deafness, Autosomal Recessive 97	34
2032	P	INH011	Inherited Bone Marrow Failure Syndromes	34
2033	c	DFN189	Deafness, Autosomal Dominant 25	34
2034	c	HYP716	Hypermanganesemia with Dystonia 1	34
2035	P	HRD214	Hereditary Periodic Fever Syndrome	34
2036	c	CND034	Candidiasis, Familial, 2	34
2037	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	34
2038	c	DFN095	Deafness, Autosomal Recessive 25	34
2039	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	34
2040	c	DFN120	Deafness, Autosomal Recessive 39	34
2041	c	DFN352	Deafness, Autosomal Recessive 8	34
2042	c	DFN130	Deafness, Autosomal Recessive 21	33
2043		LNG004	Langerhans Cell Sarcoma	33
2044	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
2045	c	DFN098	Deafness, Autosomal Dominant 3a	33
2046	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	33
2047	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	33
2048	c	FML084	Familial Porencephaly	33
2049	c	DFN094	Deafness, Autosomal Dominant 28	33
2050	c	DFN127	Deafness, Autosomal Recessive 7	32
2051	c	NPH072	Nephrotic Syndrome, Type 7	32
2052	c	DFN139	Deafness, Autosomal Recessive 29	32
2053	c	DFN192	Deafness, Autosomal Dominant 23	32
2054	c	PLM167	Pulmonary Ven