Blood Diseases Category (2308 diseases)

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

#	Family	MCID	Name	MIFTS
1		ALP100	Alpha-Thalassemia/mental Retardation Syndrome, X-Linked	49
2		ALP093	Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related	25
3	c	BLD146	Blood Group, P1pk System	24
4		GHS005	Ghosal Hematodiaphyseal Dysplasia	42
5		DYS127	Dyserythropoietic Anemia and Thrombocytopenia	14
6		THR016	Thrombophlebitis	49
7	c	THR102	Thrombocytopenia 5	30
8	c	THR090	Thrombocythemia 1	53
9	c	THR037	Thrombocytopenia 2	37
10		BLD141	Blood Group--Kell System	22
11		CMP080	Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy	38
12	c	RDL034	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1	25
13		INT078	Intracranial Thrombosis	48
14		BLD160	Blood Group, John Milton Hagen System	11
15		THR024	Thrombosis	55
16	c	THR048	Thrombocytopenia 4	30
17	c	THR111	Thrombocytopenia 3	29
18	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	63
19	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	26
20	c	THR125	Thrombocytopenia 7	26
21	c	BLD174	Bleeding Disorder, Platelet-Type, 24	24
22		BLD167	Blood Group, Kidd System	16
23		SGT001	Sagittal Sinus Thrombosis	35
24	c	GLN012	Glanzmann Thrombasthenia 2	29
25		FCT013	Factor V Leiden Thrombophilia	27
26		BLD176	Blood Group, Sid System	25
27	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	25
28	P	PHC014	Phocomelia	24
29	c	DKP001	Dk Phocomelia Syndrome	24
30	c	HMT005	Hematocrit/hemoglobin Quantitative Trait Locus 1	8
31	P	HMT007	Hematocrit/hemoglobin Quantitative Trait Locus 3	7
32	c	HMT006	Hematocrit/hemoglobin Quantitative Trait Locus 2	6
33		HRD163	Hereditary Antithrombin Deficiency Type 2	5
34	P	ESS003	Essential Thrombocythemia	70
35	c	THR086	Thrombocythemia 3	29
36		HMT001	Hematocele of Tunica Vaginalis Testis	28
37		BLD159	Blood Group, Junior System	13
38		PRN017	Perianal Hematoma	29
39	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	27
40		BLC004	Blackwater Fever	25
41		BLD155	Blood Group, Cromer System	24
42	P	MCR387	Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	21
43	c	BLD140	Blood Group, I System	20
44		BLD165	Blood Group, Colton System	13
45		BLD166	Blood Group, Diego System	13
46		BLD158	Blood Group, Chido/rodgers System	10
47		CRN017	Coronary Thrombosis	45
48		CVR002	Cavernous Sinus Thrombosis	36
49		LTR002	Lateral Sinus Thrombosis	26
50	c	BLD132	Bleeding Disorder, Platelet-Type, 21	25
51		THR116	Thrombocytopenia, Cyclic	21
52		RPH001	Raph Blood Group System	16
53		RNX001	Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies	15
54		ETV001	Etv6 Thrombocytopenia and Predisposition to Leukemia	14
55	P	MNP023	Mean Platelet Volume/count Quantitative Trait Locus 2	7
56	c	HRM017	Hermansky-Pudlak Syndrome 2	56
57	P	PST095	Post-Thrombotic Syndrome	50
58		PLS029	Plasminogen Activator Inhibitor-1 Deficiency	36
59		ASP030	Aspirin Resistance	26
60	c	THR087	Thrombocythemia 2	25
61	P	RDL033	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2	23
62	c	THR127	Thrombophilia, X-Linked, Due to Factor Viii Defect	18
63		HMG031	Hemoglobin, High Altitude Adaptation	16
64	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	16
65	P	BLD175	Blood Group, Rh System	13
66	P	HML033	Hemolytic Uremic Syndrome, Atypical 1	70
67		BLD161	Blood Group, Globoside System	44
68		NNB001	Nonbacterial Thrombotic Endocarditis	37
69	c	HML035	Hemolytic Uremic Syndrome, Atypical 2	28
70	c	HML034	Hemolytic Uremic Syndrome, Atypical 3	27
71	c	HML037	Hemolytic Uremic Syndrome, Atypical 5	26
72	c	HML032	Hemolytic Uremic Syndrome, Atypical 4	26
73	c	HML036	Hemolytic Uremic Syndrome, Atypical 6	25
74		THR120	Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency	22
75		PLT006	Platelet-Activating Factor Acetylhydrolase Deficiency	21
76		BLD171	Blood Group, Lewis System	20
77		MND006	Mondor Disease	17
78	c	MCR389	Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	15
79		BLD148	Blood Group, Langereis System	15
80		BLD164	Blood Group, Gerbich System	14
81		BLD163	Blood Group, Dombrock System	13
82		RDN004	Radin Blood Group Antigen	10
83		BLD144	Blood Group System, Landsteiner-Wiener	9
84		BLD151	Blood Group--Wright Antigen	9
85		HYP056	Hypoglycemia	65
86		THR035	Thrombasthenia	48
87	c	HMG029	Hemoglobin Se Disease	37
88		INT076	Intracranial Sinus Thrombosis	31
89		HMM001	Hemometra	28
90	c	ANK019	Ankrd26-Related Thrombocytopenia	19
91	c	BLD168	Bleeding Disorder, Platelet-Type, 22	17
92	c	THR119	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	16
93	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	15
94		HMT019	Hematohidrosis	15
95		PRM053	Primary Release Disorder of Platelets	11
96		FCT024	Factor V Excess with Spontaneous Thrombosis	10
97		THR039	Thrombocytopenia Robin Sequence	10
98		KTZ001	Kotzot-Richter Syndrome	8
99		BLD143	Blood Group--Lke	7
100	c	MNP022	Mean Platelet Volume/count Quantitative Trait Locus 1	7
101	c	MNP024	Mean Platelet Volume/count Quantitative Trait Locus 3	6
102	c	MNP025	Mean Platelet Volume/count Quantitative Trait Locus 4	6
103	c	MNP026	Mean Platelet Volume/count Quantitative Trait Locus 5	6
104	c	MNP027	Mean Platelet Volume/count Quantitative Trait Locus 6	6
105	P	HRM001	Hermansky-Pudlak Syndrome	63
106	c	HRM005	Hermansky-Pudlak Syndrome 1	57
107		HYP014	Hyperuricemia	50
108	c	HRM006	Hermansky-Pudlak Syndrome 3	49
109	c	HRM008	Hermansky-Pudlak Syndrome 5	48
110		SBL008	Sea-Blue Histiocyte Disease	45
111	c	HRM007	Hermansky-Pudlak Syndrome 4	41
112	c	HRM020	Hermansky-Pudlak Syndrome 10	26
113		THR112	Thrombocytopenia, Anemia, and Myelofibrosis	20
114	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	16
115	P	NTR004	Neutropenia	61
116	c	SVR003	Severe Congenital Neutropenia	58
117		CRB186	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to	55
118		VTM033	Vitamin K Deficiency Bleeding	52
119	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	51
120	c	HRM009	Hermansky-Pudlak Syndrome 6	50
121		BBS001	Babesiosis	48
122	c	HRM012	Hermansky-Pudlak Syndrome 9	46
123	c	SVR107	Severe Congenital Neutropenia 3	44
124	c	HRM010	Hermansky-Pudlak Syndrome 7	40
125	c	HRM011	Hermansky-Pudlak Syndrome 8	38
126	c	SVR106	Severe Congenital Neutropenia 5	37
127	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	36
128	c	SVR104	Severe Congenital Neutropenia 7	31
129	c	WSK002	Wiskott-Aldrich Syndrome 2	31
130	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	30
131	c	SVR109	Severe Congenital Neutropenia 8	28
132		SPN433	Spondyloepiphyseal Dysplasia, Kondo-Fu Type	26
133		THR007	Thrombophlebitis Migrans	25
134	c	SVR108	Severe Congenital Neutropenia 6	25
135		ATM012	Autoimmune Disease of Blood	25
136	c	NTR045	Neutropenia, Chronic Familial	22
137	c	SVR103	Severe Congenital Neutropenia 1	20
138	c	ACQ053	Acquired Neutropenia	17
139	c	ATS450	Autosomal Recessive Severe Congenital Neutropenia	17
140		BLD177	Blood Group, Emm System	16
141	c	SVR105	Severe Congenital Neutropenia 2	16
142		BLD162	Blood Group, Vel System	15
143	c	ELN001	Elane-Related Neutropenia	13
144		BLD153	Blood Group--Swann System	10
145	c	DNG003	Dengue Disease	69
146	P	SHW006	Shwachman-Diamond Syndrome 1	68
147		TKY002	Takayasu Arteritis	64
148		GST033	Gestational Diabetes	61
149		ISC004	Ischemia	60
150	P	END033	Endocarditis	57
151		HYP081	Hypolipoproteinemia	56
152	P	VNS003	Venous Insufficiency	55
153		HYP037	Hyperhomocysteinemia	51
154	P	DNG005	Dengue Virus	51
155		CLC001	Calciphylaxis	50
156	c	HYP597	Hyperprolinemia, Type Ii	48
157	c	CHR431	Chronic Venous Insufficiency	47
158		TRC012	Trichuriasis	46
159		PYR040	Pyropoikilocytosis, Hereditary	44
160	c	HYP248	Hyperprolinemia, Type I	44
161		ISC015	Ischemic Colitis	41
162	P	HYP111	Hyperprolinemia	40
163	c	PRM225	Primary Thrombocytopenia	39
164		CRT004	Carotid Artery Thrombosis	38
165		SHW001	Shwartzman Phenomenon	38
166		HYP223	Hypoplastic Right Heart Syndrome	37
167	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	35
168		PLT015	Platelet Aggregation, Spontaneous	34
169	c	SBC003	Subacute Bacterial Endocarditis	33
170	c	SYN073	Syngap1-Related Intellectual Disability	32
171	c	SHW007	Shwachman-Diamond Syndrome 2	28
172		CRB132	Cerebral Sinovenous Thrombosis	26
173		EHL066	Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality	24
174		ACH007	Achenbach Syndrome	23
175		PLS032	Plasmodium Falciparum Blood Infection Level	22
176		CMP102	Complications After Hematopoietic Stem Cell Transplantation	21
177	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	19
178		VNS012	Venous Thoracic Outlet Syndrome	18
179	c	HVP001	Hivep2-Related Intellectual Disability	18
180		FRS010	Forsythe-Wakeling Syndrome	16
181		PLT031	Platelet Membrane Fluidity	16
182	P	ACQ041	Acquired Amegakaryocytic Thrombocytopenia	15
183	P	PLT029	Platelet Groups--Ko System	15
184	c	BCL018	Bcl11a-Related Intellectual Disability	15
185	c	ATS403	Autosomal Dominant Intellectual Disability 40	14
186		WHT020	White Blood Cell Count Quantitative Trait Locus 1	14
187		DNV002	De Novo Thrombotic Microangiopathy After Kidney Transplantation	14
188	c	ATS348	Autosomal Dominant Intellectual Disability 30	13
189	c	ATS360	Autosomal Recessive Intellectual Disability 58	13
190		PLT028	Platelet Factor 3 Deficiency	13
191		PLT016	Platelet Adenylate Cyclase Activity	12
192		PLT034	Platelet Prostacyclin Receptor Defect	12
193		PLT027	Platelet Disorder, Undefined	10
194		GNT148	Genetic Hemoglobinopathy	10
195		PLT033	Platelet Signal Processing Defect	10
196		HMG030	Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain	10
197	P	RRN017	Rare Intellectual Disability	10
198		OST157	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	9
199		HMG009	Hemoglobin Zurich	9
200	c	WCR002	Wac-Related Intellectual Disability	9
201		ATH014	Athrombia, Essential	9
202	c	WDR002	Wdr26-Related Intellectual Disability	9
203	c	TRR002	Trio-Related Intellectual Disability	9
204		YTB001	Yt Blood Group Antigen	9
205		THL019	Thalassemia, Beta+, Silent Allele	8
206		PLS033	Plasma Clot Retraction Factor, Deficiency of	8
207		HMT020	Hematopoietic Stem Cell Kinetics, Control of	8
208	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
209		PLT032	Platelet Responsiveness to Adrenaline, Depressed	7
210		FYP001	Faye-Petersen-Ward-Carey Syndrome	7
211		TSY001	Tau Syndrome	7
212		THR115	Thrombocyte B	6
213	c	BLD150	Blood Group--Ul System	5
214		BLD137	Blood Group--Ahonen	5
215		ISL157	Isolated Mesenteric Vein Thrombosis	5
216	c	SCK008	Sickle Delta Beta Thalassemia	5
217		RRG024	Rare Genetic Hematologic Disease	5
218	c	DDX001	Ddx3x-Related Intellectual Disability	4
219		BLD147	Blood Group--Private Systems	4
220	c	PLT030	Platelet Groups--Pl System	3
221		PRS059	Prostaglandin-Endoperoxide Synthase Deficiency	3
222		GNT062	Genetic Thrombotic Microangiopathy	3
223		HRD164	Hereditary Antithrombin Deficiency Type I	3
224		RRD031	Rare Disorder Potentially Indicated for Hematopoietic Stem Cell Transplant	3
225		INH034	Inherited Hematologic Cancer-Predisposing Syndrome	3
226		AGM019	Agammaglobulinemia, X-Linked	73
227	c	ART101	Aortic Valve Disease 2	71
228	c	GCH015	Gaucher Disease, Type I	70
229		CMM004	Common Variable Immunodeficiency	69
230	P	GCH001	Gaucher's Disease	68
231		ART016	Aortic Aneurysm	68
232		CRB039	Cerebrovascular Disease	68
233	P	CHR012	Chronic Granulomatous Disease	67
234	P	AMY004	Amyloidosis	66
235	P	GRF003	Graft-Versus-Host Disease	65
236		AFB002	Afibrinogenemia, Congenital	65
237		HYP810	Hypereosinophilic Syndrome, Idiopathic	63
238	P	THL005	Thalassemia	62
239		ANT009	Antithrombin Iii Deficiency	61
240	P	HMN010	Hemangioma	60
241	P	TRC086	Trichohepatoenteric Syndrome 1	59
242	c	CHR285	Chronic Myelomonocytic Leukemia	59
243		FCT003	Factor X Deficiency	58
244		DNG002	Dengue Hemorrhagic Fever	58
245	c	GCH017	Gaucher Disease, Type Iii	58
246		ACT250	Acute Megakaryocytic Leukemia	57
247		BRT005	Barth Syndrome	57
248	P	SCK005	Sickle Cell Disease	57
249	P	FNC044	Fanconi Anemia, Complementation Group C	56
250	P	HYP726	Hypercalcemia, Infantile, 1	56
251		PRP082	Porphyria, Congenital Erythropoietic	56
252		PRP030	Purpura	55
253	P	ANT006	Antiphospholipid Syndrome	55
254	c	HYP847	Hyper Ige Recurrent Infection Syndrome 1	55
255	P	ART018	Aortic Valve Insufficiency	54
256	c	THR124	Thrombotic Thrombocytopenic Purpura, Hereditary	53
257	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	53
258	c	HYP828	Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	53
259		MCR225	Macrophage Activation Syndrome	53
260	c	GCH016	Gaucher Disease, Type Ii	52
261		BLD053	Blood Platelet Disease	51
262	c	FNC028	Fanconi Anemia, Complementation Group L	50
263	P	TRC087	Tricuspid Valve Disease	50
264	c	GRN063	Granulomatous Disease, Chronic, Autosomal Recessive, 2	49
265	c	TRC022	Tricuspid Valve Insufficiency	49
266		ANG046	Angioimmunoblastic T-Cell Lymphoma	49
267	c	GRN062	Granulomatous Disease, Chronic, Autosomal Recessive, 1	48
268	c	FNC048	Fanconi Anemia, Complementation Group O	48
269		TRS021	Triosephosphate Isomerase Deficiency	48
270	c	CNG027	Congenital Hemolytic Anemia	48
271		CRY004	Cryoglobulinemia	48
272	P	ERY033	Erythroleukemia	47
273		HYP006	Hypertensive Heart Disease	47
274		CVR006	Cavernous Hemangioma	47
275		MCR018	Microcytic Anemia	47
276	c	GCH013	Gaucher Disease, Type Iiic	46
277		SDR009	Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay	46
278	P	MTH007	Methemoglobinemia	46
279	c	GRN061	Granulomatous Disease, Chronic, Autosomal Recessive, 4	46
280		GLT005	Glutamate Formiminotransferase Deficiency	46
281		LYM051	Lymphomatoid Granulomatosis	46
282	c	HYP829	Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	45
283	c	DMN029	Diamond-Blackfan Anemia 11	45
284		CMP064	Complement Component 3 Deficiency	44
285		PKL001	Poikiloderma with Neutropenia	44
286		IND002	Indolent Systemic Mastocytosis	44
287		MCR017	Macrocytic Anemia	44
288		FCT034	Factor V and Factor Viii, Combined Deficiency of, 2	44
289		IMM193	Immunodeficiency 58	43
290	c	LKM060	Leukemia, Acute Lymphoblastic 3	43
291	P	PRP034	Purpura Fulminans	43
292	c	HRD039	Hereditary Amyloidosis	42
293	c	TRC078	Trichohepatoenteric Syndrome 2	42
294	c	GRN064	Granulomatous Disease, Chronic, Autosomal Recessive, 3	42
295	P	PRC031	Preeclampsia/eclampsia 1	41
296		FBR032	Fibromuscular Dysplasia	41
297	P	VTM036	Vitamin D-Dependent Rickets	41
298		LKS001	Leukostasis	40
299	c	FNC057	Fanconi Anemia, Complementation Group U	40
300	c	DMN017	Diamond-Blackfan Anemia 10	40
301	P	RFR008	Refractory Anemia with Excess Blasts	39
302		ESN002	Eosinophilia-Myalgia Syndrome	39
303	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	39
304	c	CNG223	Congenital Methemoglobinemia	39
305		SPC026	Specific Granule Deficiency 1	38
306	c	DMN020	Diamond-Blackfan Anemia 8	38
307	c	SPH016	Spherocytosis, Type 4	37
308		HYP001	Hypochromic Microcytic Anemia	37
309		TRC021	Tricuspid Valve Stenosis	37
310	P	ACT105	Acute Mountain Sickness	37
311		CNG017	Congenital Nonspherocytic Hemolytic Anemia	37
312	c	ELL010	Elliptocytosis 1	36
313		TKN001	Takenouchi-Kosaki Syndrome	35
314	c	FNC056	Fanconi Anemia, Complementation Group V	35
315		LCH001	Leech Infestation	35
316		NNT011	Neonatal Anemia	35
317		ANM001	Anemia of Prematurity	35
318		MYL002	Myelophthisic Anemia	35
319	P	DMN043	Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis	34
320		LKC003	Leukocyte Disease	34
321	c	ATS483	Autosomal Dominant Severe Congenital Neutropenia	33
322		IMM256	Immunodeficiency 90 with Encephalopathy, Functional Hyposplenia, and Hepatic Dysfunction	33
323		FNC063	Functional Neutrophil Defect	33
324	c	ACQ047	Acquired Methemoglobinemia	33
325		MTH021	Methylmalonic Acidemia with Homocystinuria	33
326		TCK004	Tick Infestation	32
327	c	DMN049	Diamond-Blackfan Anemia 20	32
328	c	FNC062	Fanconi Anemia, Complementation Group S	30
329		ANH003	Anhaptoglobinemia	30
330		RHS001	Rh Isoimmunization	29
331		FBR052	Fibrinolytic Defect	29
332	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	29
333		GNT005	Giant Hemangioma	28
334	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	28
335	c	CHR546	Chronic Mountain Sickness	28
336	c	DMN019	Diamond-Blackfan Anemia 4	28
337	c	VTM035	Vitamin D-Dependent Rickets, Type 3	27
338	c	ATS481	Autosomal Dominant Beta Thalassemia	27
339		RFR007	Refractory Anemia with Excess Blasts in Transformation	27
340		FBR023	Fibrinogen Deficiency, Congenital	26
341	c	HYP884	Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive	26
342		TWN014	Twin Anemia-Polycythemia Sequence	26
343		BLT003	Blue Toe Syndrome	26
344	c	FNC061	Fanconi Anemia, Complementation Group W	25
345	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	25
346		HYP018	Hyperglobulinemic Purpura	25
347	c	HYP833	Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	25
348		DSS003	Disseminated Eosinophilic Collagen Disease	25
349		DCN001	Dic in Newborn	25
350		PHY001	Physiological Polycythemia	24
351		PRC051	Paracetamol Poisoning	24
352	c	PRC034	Preeclampsia/eclampsia 4	24
353		HVY003	Heavy Chain Deposition Disease	24
354	c	MTH083	Methemoglobinemia, Beta Type	24
355		NNS003	Non-Secretory Myeloma	24
356		BRR004	Baroreflex Failure	24
357	c	GRN065	Granulomatous Disease, Chronic, Autosomal Recessive, 5	24
358	c	DMN037	Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis	23
359		HMP018	Hemophilic Arthropathy	23
360		ALG025	Alg1-Congenital Disorder of Glycosylation	23
361		ARG006	Aregenerative Anemia	23
362	c	HYP871	Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	23
363		PLT001	Plethora of Newborn	23
364	P	HYP885	Hyper-Ige Recurrent Infection Syndrome 4a, Autosomal Dominant	23
365	c	ACQ004	Acquired Hemangioma	22
366	c	ERY051	Erythroleukemia, Familial	22
367	c	HYP712	Hypercalcemia, Infantile, 2	22
368	P	SLF001	Sulfhemoglobinemia	21
369		MXD035	Mixed-Type Autoimmune Hemolytic Anemia	21
370	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	21
371	c	ANT041	Antiphospholipid Syndrome, Familial	21
372		DRM015	Dermoids of Cornea	21
373	c	RFR015	Refractory Anemia with Excess Blasts Type 1	21
374	c	VTM037	Vitamin D-Dependent Rickets Type 2b	21
375	c	DMN040	Diamond-Blackfan Anemia 16	20
376	c	ANM039	Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	20
377		ADS015	Aids Wasting Syndrome	20
378	c	DMN039	Diamond-Blackfan Anemia 17	20
379		21Q001	21q22.11q22.12 Microdeletion Syndrome	20
380	c	DMN047	Diamond-Blackfan Anemia 18	20
381		ATY045	Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality	20
382		HML053	Hemolytic Anemia, Congenital, X-Linked	19
383	c	MLG144	Malignant Hemangioma	19
384		NNT054	Neonatal Alloimmune Neutropenia	19
385	c	DMN048	Diamond-Blackfan Anemia 19	18
386		HMP034	Hemophilia B Leyden	18
387	c	CNG578	Congenital Hemangioma	18
388	c	ACQ039	Acquired Purpura Fulminans	18
389	c	PRM150	Primary Localized Amyloidosis	18
390		ISL085	Isolated Agammaglobulinemia	17
391	c	HYP863	Hyper Ige Recurrent Infection Syndrome 4	17
392		HYP765	Hyperbilirubinemia, Shunt, Primary	17
393		ADN084	Adenosine Deaminase, Elevated, Hemolytic Anemia Due to	17
394		UNC008	Unclassified Myelodysplastic Syndrome	15
395		LCL017	Localized Pagetoid Reticulosis	15
396		ACQ075	Acquired Factor Xiii Deficiency	15
397	c	SCK049	Sickle Cell Disease and Related Diseases	15
398	P	PYR006	Pyridoxine-Responsive Sideroblastic Anemia	14
399	c	MTH084	Methemoglobinemia, Alpha Type	14
400		SML040	Smoldering Systemic Mastocytosis	14
401		MNC020	Monoclonal Mast Cell Activation Syndrome	14
402	c	ACQ071	Acquired Hemophilia B	12
403		HHV002	Hhv-8-Associated Multicentric Castleman Disease	11
404	c	PRC032	Preeclampsia/eclampsia 2	11
405	c	PRC033	Preeclampsia/eclampsia 3	10
406		PLY128	Polyclonal Hyperviscosity Syndrome	9
407	c	ACQ028	Acquired Secondary Polycythemia	9
408		CVR003	Cavernous Hemangioma of Face	9
409	c	PSD023	Pseudo-Gaucher Disease	9
410	c	ALP113	Alpha-Thalassemia and Related Disorders	8
411		ANT036	Anti-Hla Hyperimmunization	8
412	c	SLF013	Sulfhemoglobinemia, Congenital	8
413		ATS105	Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency	8
414		ISL033	Isolated Delta-Storage Pool Disease	7
415		CLL008	Cellular Phase Chronic Idiopathic Myelofibrosis	7
416	c	BTT015	Beta-Thalassemia and Related Diseases	7
417		UNC009	Unclassified Myelodysplastic/myeloproliferative Disease	6
418	c	HYP861	Hyper Ige Recurrent Infection Syndrome 2	6
419	c	HYP862	Hyper Ige Recurrent Infection Syndrome 3	6
420		CVR005	Cavernous Hemangioma of Orbit	6
421	c	PLY005	Polycythemia Due to Hypoxia	6
422		MYL077	Myeloid Hemopathy	5
423	c	HML056	Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes	5
424		DHY001	Dehydration Polycythemia	5
425		AMN017	Aminolevulinic Acid Dehydratase Deficiency Porphyria	4
426	c	CNS018	Constitutional Hemolytic Anemia Due to Acanthocytosis	4
427	c	ATS408	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3	4
428		ATS479	Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Jak1 Deficiency	4
429		GNT188	Genetic Hemolytic Uremic Syndrome	4
430		VTM034	Vitamin B12- and Folate-Independent Constitutional Megaloblastic Anemia	4
431		ALP108	Alpha Granule Disease	4
432		FCT037	Factor V Short Isoforms-Related Bleeding Disorder	3
433		QNT001	Quantitative and/or Qualitative Congenital Phagocyte Defect	2
434		FCT035	Factor V Atlanta Bleeding Disorder	2
435		MCR375	Macrophage or Histiocytic Tumor	2
436		PRT018	Portal Vein Thrombosis	52
437		MLR004	Malaria	77
438		CHR466	Chronic Thromboembolic Pulmonary Hypertension	42
439		IMM225	Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia	37
440		PLM101	Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis	15
441		BRG013	Buerger Disease	59
442		URN003	Urinary Schistosomiasis	46
443		PRM285	Primitive Portal Vein Thrombosis	15
444	P	PLM037	Pulmonary Hypertension	73
445		GLT018	Glut1 Deficiency Syndrome 1	45
446	P	THP004	Thiopurines, Poor Metabolism of, 1	45
447	c	THP005	Thiopurines, Poor Metabolism of, 2	23
448		ILC001	Iliac Vein Thrombophlebitis	8
449		SCH028	Schlegelberger Grote Syndrome	6
450		MCR041	Macrothrombocytopenia Progressive Deafness	4
451		VRC005	Varicose Veins	60
452	P	HYP769	Hyperlysinemia, Type I	47
453		MTH026	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	37
454		PRD048	Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome	27
455		CYT019	Cytogenetically Normal Acute Myeloid Leukemia	19
456	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
457	P	VSC011	Vasculitis	60
458		SPL006	Splenic Infarction	39
459	c	ATM104	Autoimmune Vasculitis	35
460	P	DRG021	Drug Metabolism, Poor, Cyp2c19-Related	32
461	c	DRG020	Drug Metabolism, Poor, Cyp2d6-Related	22
462		ANG063	Angiolipomatosis, Familial	19
463	c	SCN082	Secondary Vasculitis	16
464	c	ART115	Aortic Valve Disease 1	78
465	P	KDN018	Kidney Disease	75
466	c	CHR684	Chronic Kidney Disease	74
467	c	GLY008	Glycogen Storage Disease Ii	72
468	P	TTR001	Tetralogy of Fallot	70
469		PRP027	Peripheral Vascular Disease	69
470	P	BRG001	Brugada Syndrome	69
471	P	ADL010	Adult Respiratory Distress Syndrome	68
472	P	ART062	Arthrogryposis, Renal Dysfunction, and Cholestasis 1	68
473	c	FML001	Familial Atrial Fibrillation	67
474	c	GLY060	Glycogen Storage Disease Ia	66
475	P	ATR011	Atrial Fibrillation	66
476	c	GLY004	Glycogen Storage Disease V	65
477	c	GLY003	Glycogen Storage Disease Iii	65
478	c	GLY007	Glycogen Storage Disease Iv	64
479		HYP020	Hyperprolactinemia	64
480	P	ABD014	Abdominal Obesity-Metabolic Syndrome 1	64
481		LNG099	Lung Disease	64
482		NPH091	Nephrolithiasis, Calcium Oxalate	63
483	c	ART138	Aortic Aneurysm, Familial Abdominal, 1	63
484		SHG001	Shigellosis	61
485	c	HYP841	Hypoalphalipoproteinemia, Primary, 1	61
486	c	ACT071	Acute Kidney Failure	61
487	P	GLM007	Glomerulonephritis	60
488	c	GLY005	Glycogen Storage Disease Vi	59
489	P	GLY013	Glycogen Storage Disease	59
490	P	CRD246	Cardiovascular System Disease	59
491	c	HYP843	Hypoalphalipoproteinemia, Primary, 2	59
492	P	LDD007	Liddle Syndrome 1	59
493	P	MLG056	Malignant Hyperthermia	58
494		IRN002	Iron Metabolism Disease	58
495	c	GLY011	Glycogen Storage Disease Vii	57
496	c	BRG005	Brugada Syndrome 1	56
497		PRD004	Prediabetes Syndrome	56
498		PLC005	Placental Insufficiency	55
499		PRP009	Peripartum Cardiomyopathy	52
500		INF034	Infective Endocarditis	52
501	c	GLY097	Glycogen Storage Disease Ixb	49
502		CRT016	Carotid Artery Disease	49
503	c	GLY115	Glycogen Storage Disease Ixd	48
504	c	FML015	Familial Nephrotic Syndrome	47
505	c	BRG004	Brugada Syndrome 4	47
506	c	MLG147	Malignant Hyperthermia 1	47
507	c	ART159	Aortic Valve Disease 3	46
508	c	GLY016	Glycogen Storage Disease Ib	46
509	c	GLY009	Glycogen Storage Disease Xv	46
510		HYP648	Hypertension and Brachydactyly Syndrome	45
511	c	GLY044	Glycogen Storage Disease Ixc	43
512	P	HYP121	Hypoalphalipoproteinemia	41
513	c	BRG003	Brugada Syndrome 3	40
514	c	BRG007	Brugada Syndrome 5	40
515		KPS002	Kaposiform Hemangioendothelioma	39
516		LFF001	Loeffler Endocarditis	39
517	c	ABD013	Abdominal Obesity-Metabolic Syndrome 3	38
518	c	GLY057	Glycogen Storage Disease X	38
519	c	ART063	Arthrogryposis, Renal Dysfunction, and Cholestasis 2	37
520	c	GLY043	Glycogen Storage Disease Xii	37
521	c	GLY006	Glycogen Storage Disease Viii	36
522	c	ATM045	Autoimmune Glomerulonephritis	34
523	P	PRT257	Portal Hypertension, Noncirrhotic, 1	32
524	c	GLY017	Glycogen Storage Disease Ic	32
525	c	BRG008	Brugada Syndrome 6	31
526		LPP002	Lipoprotein Glomerulopathy	31
527	c	BRG012	Brugada Syndrome 9	30
528	c	MLG151	Malignant Hyperthermia 5	30
529	c	BRG006	Brugada Syndrome 2	29
530	c	GLY059	Glycogen Storage Disease Xiii	29
531	c	ATM013	Autoimmune Disease of Cardiovascular System	28
532		RHZ019	Rhizomelic Skeletal Dysplasia with or Without Pelger-Huet Anomaly	28
533	c	GLY093	Glycogen Storage Disease Ixa	28
534	c	ATR061	Atrial Fibrillation, Familial, 10	28
535	c	BRG010	Brugada Syndrome 8	27
536	c	BRG009	Brugada Syndrome 7	26
537	c	MLG148	Malignant Hyperthermia 2	26
538		MYT019	May-Thurner Syndrome	26
539	c	ATR037	Atrial Fibrillation, Familial, 7	26
540	c	ATR038	Atrial Fibrillation, Familial, 3	25
541	c	ATR035	Atrial Fibrillation, Familial, 6	25
542	c	ATR059	Atrial Fibrillation, Familial, 11	25
543	c	LDD008	Liddle Syndrome 2	23
544	c	GLY001	Glycogen Storage Disease Ix	23
545	c	ATR068	Atrial Fibrillation, Familial, 14	23
546	c	MLG149	Malignant Hyperthermia 3	23
547	c	ATR070	Atrial Fibrillation, Familial, 9	22
548	c	ADL080	Adult Acute Respiratory Distress Syndrome	22
549	c	ATR026	Atrial Fibrillation, Familial, 1	22
550	c	SBC010	Subacute Glomerulonephritis	21
551		IMM244	Immunodeficiency 81	21
552	c	MLG150	Malignant Hyperthermia 4	21
553	c	ATR039	Atrial Fibrillation, Familial, 4	21
554	c	RNL016	Renal Infectious Disease	21
555	c	ATR072	Atrial Fibrillation, Familial, 13	21
556	c	HYP886	Hypoalphalipoproteinemia, Primary, 2, Intermediate	20
557	c	ATR069	Atrial Fibrillation, Familial, 12	19
558		DSR026	Disorder of Tyrosine Metabolism	19
559	c	LDD009	Liddle Syndrome 3	19
560	c	MLG152	Malignant Hyperthermia 6	19
561	c	ABD015	Abdominal Obesity-Metabolic Syndrome 4	19
562	c	ART152	Aortic Aneurysm, Familial Abdominal, 3	15
563	c	ATR027	Atrial Fibrillation, Familial, 5	14
564		ISL156	Isolated Splenic Vein Thrombosis	14
565	c	ART151	Aortic Aneurysm, Familial Abdominal, 2	13
566	c	ATR025	Atrial Fibrillation, Familial, 2	13
567	c	ART108	Aortic Aneurysm, Familial Abdominal, 4	13
568	P	FML305	Familial Abdominal Aortic Aneurysm	12
569	c	ATR028	Atrial Fibrillation, Familial, 8	11
570		THR040	Thrombocytopenia with Elevated Serum Iga and Renal Disease	11
571	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	10
572		ANT082	Antithrombin, Familial Hemorrhagic Diathesis Due to	8
573	c	RNR002	Ren-Related Kidney Disease	7
574	c	TTR026	Tetralogy of Fallot Syndrome, Autosomal Recessive	7
575	c	RRD027	Rare Disease with Malignant Hyperthermia	5
576		HMT022	Hematological Disorder with Renal Involvement	3
577		HMT021	Hematological Disease Associated with an Acquired Peripheral Neuropathy	3
578		RRD074	Rare Disorder Due to Unbalanced Inter-Twin Blood Transfusion	3
579		GNT137	Genetic Tumor of Hematopoietic and Lymphoid Tissues	3
580	P	ATX030	Ataxia-Telangiectasia	81
581	c	ATM006	Autoimmune Lymphoproliferative Syndrome	72
582	P	CRN300	Coronary Heart Disease 1	72
583		MYL005	Myelofibrosis	71
584	P	LKM062	Leukemia, Acute Lymphoblastic	69
585	c	JVN004	Juvenile Myelomonocytic Leukemia	68
586		APN008	Apnea, Obstructive Sleep	68
587		IMM106	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked	67
588	c	PRG042	Progressive Familial Heart Block, Type Ia	67
589		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	66
590		FCT007	Factor Vii Deficiency	66
591		SVR004	Severe Combined Immunodeficiency	66
592	P	MTR004	Maturity-Onset Diabetes of the Young	65
593	P	THR014	Thrombocytopenia	65
594		PLS009	Plasma Cell Neoplasm	65
595		BLS001	Blau Syndrome	64
596	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	64
597	P	VNW001	Von Willebrand's Disease	64
598	c	ALP101	Alpha-Thalassemia	63
599	P	HYP055	Hypoplastic Left Heart Syndrome	63
600	P	HML002	Hemolytic Anemia	63
601		FCT001	Factor Viii Deficiency	63
602		PTN001	Patent Foramen Ovale	63
603	P	INT066	Interstitial Lung Disease	62
604	c	THR001	Thrombocytopenia Due to Platelet Alloimmunization	61
605	P	PRD008	Periodontitis	61
606		PRN001	Purine Nucleoside Phosphorylase Deficiency	60
607		CYC010	Cyclic Neutropenia	60
608		HYP066	Hyperglycemia	60
609		OST003	Osteonecrosis	60
610	P	LYM033	Lymphoproliferative Syndrome	58
611		PMS001	Poems Syndrome	58
612	c	SYS004	Systemic Mastocytosis	58
613		BLR008	Bilirubin Metabolic Disorder	58
614	c	NPH055	Nephrotic Syndrome, Type 1	57
615	c	FML116	Familial Cold Autoinflammatory Syndrome 1	57
616	P	ATN002	Autonomic Nervous System Disease	57
617	c	PRM012	Primary Polycythemia	57
618		RTC002	Reticular Dysgenesis	57
619	P	ACT117	Acute Myelomonocytic Leukemia	57
620		PLT004	Platelet Glycoprotein Iv Deficiency	56
621		HYP005	Hypokalemia	56
622		GST112	Gastrointestinal Defects and Immunodeficiency Syndrome 1	56
623	P	HRD011	Hereditary Spherocytosis	56
624		BCL010	B-Cell Expansion with Nfkb and T-Cell Anergy	56
625	P	GRS003	Griscelli Syndrome	56
626		DSS009	Disseminated Intravascular Coagulation	56
627	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	56
628	P	SLM003	Salmonellosis	56
629	P	HYP024	Hypoparathyroidism	56
630	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	55
631	P	FML052	Familial Cold Autoinflammatory Syndrome	55
632	P	PLY018	Polycythemia	55
633	c	PRG043	Progressive Familial Heart Block, Type Ib	54
634	P	VTM026	Vitamin D Hydroxylation-Deficient Rickets, Type 1a	54
635	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	54
636		NTR018	Neutrophilia, Hereditary	54
637		THR004	Thrombocytosis	53
638		HLL004	Hellp Syndrome	53
639	c	PRG126	Progressive Familial Heart Block	53
640	P	HMR003	Hemorrhagic Disease	53
641	c	THR071	Thrombocytopenia 1	53
642	P	END047	Endophthalmitis	53
643	c	NPH049	Nephrotic Syndrome, Type 2	53
644	c	VNW010	Von Willebrand Disease, Type 2	53
645	P	PLM006	Pulmonary Alveolar Proteinosis	52
646		DYS015	Dysentery	52
647		ANL018	Analbuminemia	52
648		PRM373	Primary Cutaneous T-Cell Non-Hodgkin Lymphoma	52
649	P	HMP007	Hemophilia	52
650	c	MYL058	Myeloproliferative Syndrome, Transient	51
651		PNC001	Pancytopenia	51
652		FLT009	Folate Malabsorption, Hereditary	51
653	c	PRD040	Periodontitis, Chronic	51
654		HYP063	Hypersplenism	51
655		RDD003	Riddle Syndrome	50
656		ABD017	Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	50
657	c	ACQ017	Acquired Von Willebrand Syndrome	50
658		AGG002	Aggressive Systemic Mastocytosis	50
659		ATY053	Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative	50
660	c	NPH102	Nephrotic Syndrome, Type 14	50
661		BLD044	Bladder Disease	49
662		STR089	Storage Pool Platelet Disease	49
663		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	49
664	c	ACT135	Acute Graft Versus Host Disease	49
665	P	PRR002	Pure Red-Cell Aplasia	49
666	P	CNG003	Congenital Dyserythropoietic Anemia	48
667		RTR011	Retroperitoneal Fibrosis	48
668	c	LYM107	Lymphoproliferative Syndrome 2	48
669		MYL003	Myeloid Sarcoma	48
670		CHR563	Chronic Eosinophilic Leukemia	48
671	c	CHR418	Chronic Leukemia	48
672		MLT113	Multicentric Castleman Disease	48
673		MLT180	Multisystem Inflammatory Syndrome in Children	48
674	c	VNW005	Von Willebrand Disease, Type 1	48
675	c	VNW008	Von Willebrand Disease, Type 3	47
676		SHH001	Sheehan Syndrome	47
677		IMM062	Immunodeficiency 11	47
678	c	LYM106	Lymphoproliferative Syndrome 1	47
679	c	FML117	Familial Cold Autoinflammatory Syndrome 2	47
680		ACT113	Acute Myeloblastic Leukemia with Maturation	46
681		MCL009	Mcleod Syndrome	46
682		LPD004	Lipoid Nephrosis	46
683		HMP001	Hemopericardium	46
684	c	DMN021	Diamond-Blackfan Anemia 6	45
685		VRC001	Varicocele	45
686	c	HRD171	Hereditary Pulmonary Alveolar Proteinosis	44
687	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	44
688		PRT014	Protein S Deficiency	44
689		GLY015	Glycine N-Methyltransferase Deficiency	44
690		SPN251	Spondyloenchondrodysplasia with Immune Dysregulation	44
691		THR051	Thrombocytopenia with Beta-Thalassemia, X-Linked	44
692	c	PSD048	Pseudo-Von Willebrand Disease	44
693	c	HMG003	Hemoglobin E Disease	44
694		MST004	Mast Cell Neoplasm	44
695	c	ANM080	Anemia, Congenital Dyserythropoietic, Type Iiia	43
696		MTH056	Methylmalonic Aciduria and Homocystinuria, Cblf Type	43
697	c	PLM150	Pulmonary Alveolar Proteinosis, Acquired	43
698		GRH001	Gorham's Disease	43
699		OVR093	Overhydrated Hereditary Stomatocytosis	43
700	c	ATM097	Autoimmune Lymphoproliferative Syndrome, Type Iia	43
701	c	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	43
702		INT038	Interdigitating Dendritic Cell Sarcoma	43
703	P	HRT035	Heart Block, Congenital	42
704		GRN017	Granulocytopenia	42
705		LYM014	Lymphangitis	42
706	c	NPH054	Nephrotic Syndrome, Type 3	42
707	c	NPH076	Nephrotic Syndrome, Type 10	42
708	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	41
709	c	ERY031	Erythrocytosis, Familial, 3	41
710	c	BLD126	Bleeding Disorder, Platelet-Type, 18	41
711	c	FNC058	Fanconi Anemia, Complementation Group R	41
712	P	BCL004	B-Cell Non-Hodgkin Lymphoma	41
713		BLD051	Blood Coagulation Disease	41
714		STR007	Stress Polycythemia	41
715	c	HMG001	Hemoglobin C Disease	41
716	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	41
717	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	41
718	c	SPH013	Spherocytosis, Type 1	41
719	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	40
720		IDP001	Idiopathic Cd4-Positive T-Lymphocytopenia	40
721		CHR286	Chronic Neutrophilic Leukemia	40
722	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	40
723	c	HYP543	Hypoplastic Left Heart Syndrome 1	40
724	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	40
725	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	40
726		CHL070	Cholesterol Embolism	39
727	c	NPH047	Nephrotic Syndrome, Type 4	39
728	c	ATM083	Autoimmune Lymphoproliferative Syndrome, Type Iii	39
729	c	SVR110	Severe Congenital Neutropenia 4	39
730		MYL067	Myeloproliferative Disorder, Chronic, with Eosinophilia	38
731		ACT177	Acute Basophilic Leukemia	38
732	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	38
733		MDM001	Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency	38
734	c	DMN024	Diamond-Blackfan Anemia 7	38
735	c	NPH117	Nephrotic Syndrome, Type 24	37
736		ISL122	Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia	37
737	c	NPH108	Nephrotic Syndrome, Type 20	37
738	c	BLD152	Bleeding Disorder, Platelet-Type, 16	37
739	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	37
740		CRY019	Cryohydrocytosis	37
741		FTL004	Fetal Erythroblastosis	36
742	c	FML270	Familial Cold Autoinflammatory Syndrome 4	36
743		GRY001	Gray Zone Lymphoma	36
744	c	NPH074	Nephrotic Syndrome, Type 9	36
745		IND017	Indolent Plasma Cell Myeloma	36
746	P	DYS021	Dysautonomia	36
747	P	THR055	Thrombophilia, X-Linked, Due to Factor Ix Defect	36
748		THL010	Thalassemia Minor	35
749		HML042	Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy	35
750		HPT025	Hepatic Lipase Deficiency	35
751		CRN270	Coronary Artery Dissection, Spontaneous	35
752	c	BLD125	Bleeding Disorder, Platelet-Type, 17	35
753	c	CRN214	Coronary Heart Disease 5	35
754	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	35
755		TRN030	Transient Erythroblastopenia of Childhood	35
756		CMP083	Complete Plasminogen Activator Inhibitor 1 Deficiency	34
757	c	SPH014	Spherocytosis, Type 2	34
758	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	33
759	c	BLD156	Bleeding Disorder, Platelet-Type, 14	33
760	c	DMN018	Diamond-Blackfan Anemia 5	33
761	c	SPH015	Spherocytosis, Type 3	33
762		GLT040	Glutamate-Cysteine Ligase Deficiency	33
763		SML011	Smoldering Myeloma	33
764		BLD054	Blood Protein Disease	33
765		HMP028	Hemophagocytic Syndrome Associated with an Infection	32
766	c	LYM151	Lymphoproliferative Syndrome 3	32
767	c	BLD133	Bleeding Disorder, Platelet-Type, 20	32
768		SLT001	Solitary Osseous Plasmacytoma	32
769	c	CHR064	Chronic Monocytic Leukemia	32
770		SMH001	Sm-Ahnmd	32
771		MSP001	Masp2 Deficiency	32
772		HML052	Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency	31
773	c	NPH111	Nephrotic Syndrome, Type 21	31
774		THR067	Thrombophilia Due to Protein C Deficiency, Autosomal Dominant	31
775		HMP003	Hemopneumothorax	31
776		ACT114	Acute Myeloblastic Leukemia Without Maturation	31
777	c	NPH115	Nephrotic Syndrome, Type 23	31
778	c	ACQ014	Acquired Hemophilia	31
779		BLD052	Blood Group Incompatibility	30
780	c	ACQ042	Acquired Hemophilia a	30
781		HDG005	Hodgkin's Lymphoma, Mixed Cellularity	30
782		PLM007	Pulmonary Aspergilloma	30
783	c	ALK016	Alk-Negative Anaplastic Large Cell Lymphoma	30
784	P	SCK034	Sickle Beta Thalassemia	30
785	c	MNS014	Monosomy 22	30
786		ACT186	Acute Megakaryoblastic Leukemia in Down Syndrome	30
787		THR089	Thrombophilia Due to Protein S Deficiency, Autosomal Dominant	30
788	c	SPH017	Spherocytosis, Type 5	30
789		RFR009	Refractory Cytopenia with Multilineage Dysplasia	30
790		IMM191	Immunodeficiency 56	30
791		PRT025	Protein-Deficiency Anemia	30
792		HDG003	Hodgkin's Lymphoma, Lymphocytic Depletion	29
793		THR021	Thrombophilia Due to Hrg Deficiency	29
794	P	ALK015	Alk-Positive Anaplastic Large Cell Lymphoma	29
795	c	ACT047	Acute Endophthalmitis	29
796		PRX008	Paroxysmal Cold Hemoglobinuria	29
797	c	ATM068	Autoimmune Hypoparathyroidism	29
798		FCT032	Factor Xiii, a Subunit, Deficiency of	29
799	c	DMN022	Diamond-Blackfan Anemia 9	29
800		NTR013	Neutropenia, Nonimmune Chronic Idiopathic, of Adults	29
801		ORB009	Orbit Lymphoma	28
802		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	28
803		APP002	Appendix Lymphoma	28
804	c	ADL093	Adult Acute Monocytic Leukemia	28
805		THR097	Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia	28
806		PRN002	Paranasal Sinus Lymphoma	28
807	c	BLD154	Bleeding Disorder, Platelet-Type, 12	28
808	c	NPH103	Nephrotic Syndrome, Type 15	27
809		CMB095	Combined T and B Cell Immunodeficiency	27
810	c	INF193	Inflammatory Bowel Disease 30	27
811		RFR001	Refractory Plasma Cell Neoplasm	27
812	c	ACQ016	Acquired Pure Red Cell Aplasia	27
813		SPC022	Specific Antibody Deficiency	27
814	c	PRG101	Progressive Familial Heart Block, Type Ii	27
815	c	THR110	Thrombocytopenia 6	27
816	c	SCN069	Secondary Hemophagocytic Lymphohistiocytosis	27
817	c	NPH114	Nephrotic Syndrome, Type 22	27
818		ATM106	Autoimmune Hemolytic Anemia, Cold Type	26
819	c	HRM023	Hermansky-Pudlak Syndrome 11	26
820	c	NPH096	Nephrotic Syndrome, Type 12	26
821	c	NPH073	Nephrotic Syndrome, Type 8	26
822		TBS005	T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta	26
823	c	NPH095	Nephrotic Syndrome, Type 11	26
824	c	SBC006	Subacute Leukemia	26
825	P	ATS208	Autosomal Dominant Macrothrombocytopenia	26
826		CHR058	Chronic Congestive Splenomegaly	26
827		DHY015	Dehydrated Hereditary Stomatocytosis 2	26
828		IMM232	Immunodeficiency 75	26
829	c	NPH105	Nephrotic Syndrome, Type 17	25
830	P	ACT194	Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation	25
831	c	BLD121	Bleeding Disorder, Platelet-Type, 15	25
832	c	DMN045	Diamond-Blackfan Anemia-Like	25
833		HGH021	Hughes-Stovin Syndrome	25
834	c	BNM011	Bone Marrow Failure Syndrome 2	25
835		HRT003	Heart Lymphoma	24
836	c	NPH070	Nephrotic Syndrome, Type 6	24
837		PRS002	Prostate Lymphoma	24
838	c	MNS008	Monosomy 21	24
839	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	24
840	P	MXD058	Mixed Phenotype Acute Leukemia, T/myeloid	24
841	c	BLD127	Bleeding Disorder, Platelet-Type, 19	24
842		ACT165	Acute Megakaryoblastic Leukemia Without Down Syndrome	24
843		HDG006	Hodgkin's Paragranuloma	24
844	c	DMN028	Diamond-Blackfan Anemia 12	24
845	c	NPH106	Nephrotic Syndrome, Type 18	24
846		FCT033	Factor Xiii, B Subunit, Deficiency of	24
847		PRM379	Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	24
848	c	ATR092	Atrial Fibrillation, Familial, 15	24
849		HML010	Hemolytic Anemia Due to Glutathione Reductase Deficiency	23
850		MYL081	Myeloid Leukemia Associated with Down Syndrome	23
851	c	ATS209	Autosomal Dominant Secondary Polycythemia	23
852		HRD218	Hereditary Stomatocytosis	23
853	c	PRC045	Preeclampsia/eclampsia 5	23
854	c	NTR056	Neutropenia, Severe Congenital, 9, Autosomal Dominant	23
855	c	RFR014	Refractory Anemia with Excess Blasts Type 2	23
856	c	DMN030	Diamond-Blackfan Anemia 13	23
857		ESN023	Eosinophilia, Familial	23
858	P	8P1002	8p11 Myeloproliferative Syndrome	22
859	c	NPH093	Nephrotic Syndrome, Type 13	22
860		ADN085	Adenylate Kinase Deficiency, Hemolytic Anemia Due to	22
861	c	NPH107	Nephrotic Syndrome, Type 19	22
862		LFR008	L-Ferritin Deficiency	22
863	c	CHR059	Chronic Endophthalmitis	22
864		DND003	Dendritic Cell Thymoma	22
865		CYN002	Cyanosis, Transient Neonatal	22
866		NSL004	Nasal Cavity Lymphoma	22
867	c	HYP517	Hypoplastic Left Heart Syndrome 2	22
868	c	MNS011	Monosomy 9q22.3	22
869		ACT268	Acute Myeloid Leukemia with Myelodysplasia-Related Changes	22
870	c	SBC004	Subacute Myeloid Leukemia	21
871		VRS001	Virus Associated Hemophagocytic Syndrome	21
872		ACT264	Acute Myeloid Leukemia with Maturation	21
873		CMB088	Combined Immunodeficiency Due to Partial Rag1 Deficiency	21
874	c	NPH104	Nephrotic Syndrome, Type 16	21
875	c	RRH015	Rare Hemorrhagic Disorder	20
876		6PH001	6-Phosphogluconate Dehydrogenase Deficiency	20
877		IND016	Indolent B-Cell Non-Hodgkin Lymphoma	19
878		IMM128	Immunodeficiency Due to a Late Component of Complement Deficiency	19
879	c	ACT269	Acute Myeloid Leukemia with T(8;21); (q22; Q22.1)	19
880	c	NPH119	Nephrotic Syndrome, Type 26	19
881	c	CNG619	Congenital Aplastic Anemia	19
882	P	ATS469	Autosomal Monosomy	19
883		ATR024	Atrial Fibrillation and Stroke	19
884	c	ANM079	Anemia, Sideroblastic, 5	19
885	c	DMN050	Diamond-Blackfan Anemia 21	19
886	c	CRN174	Coronary Heart Disease 2	18
887	c	SCN051	Secondary Pulmonary Alveolar Proteinosis	18
888		PLS037	Plasma Cell Tumor	18
889	c	CRN178	Coronary Heart Disease 6	18
890	c	ACT190	Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation	18
891		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	18
892		IMM268	Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias	17
893	c	LKM055	Leukemia, Acute Lymphoblastic 2	17
894	c	ANM081	Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	17
895		INF182	Infection-Related Hemolytic Uremic Syndrome	17
896		HYD045	Hydroa Vacciniforme-Like Lymphoma	17
897	c	BN2001	Bn2 Diffuse Large B-Cell Lymphoma	17
898	c	CRN177	Coronary Heart Disease 7	17
899		SPL060	Splenic Diffuse Red Pulp Small B-Cell Lymphoma	16
900		HMG028	Hemoglobin Lepore-Beta-Thalassemia Syndrome	16
901	c	ACT246	Acute Mast Cell Leukemia	16
902		DNZ002	Dianzani Autoimmune Lymphoproliferative Disease	16
903		BLD072	Bleeding Disorder, East Texas Type	16
904		ACT260	Acute Promyelocytic Leukemia with Pml-Rara	16
905		PRD001	Predominantly Cortical Thymoma	16
906	c	CRN172	Coronary Heart Disease 3	16
907	c	PRM369	Primary Acquired Pure Red Cell Aplasia	15
908		CLS045	Classic Hodgkin Lymphoma, Mixed Cellularity Type	15
909	c	DYS194	Dysautonomia-Like Disorder	15
910	c	CNG121	Congenital Pulmonary Alveolar Proteinosis	15
911	c	CRN175	Coronary Heart Disease 4	14
912	c	CRN173	Coronary Heart Disease 8	14
913		ACQ051	Acquired Prothrombin Deficiency	13
914		WHT007	White Platelet Syndrome	13
915	c	CRN176	Coronary Heart Disease 9	13
916		TRN017	Transient Neonatal Neutropenia	13
917	c	FML155	Familial Acute Myeloid Leukemia with Mutated Cebpa	13
918		RRC033	Rare Coagulation Disorder	13
919		ACQ073	Acquired Factor X Deficiency	13
920	c	ACT254	Acute Myeloid Leukemia with T(9;22)(q34.1;q11.2)	12
921		LYM117	Lymphocytic Hypereosinophilic Syndrome	12
922		ACQ077	Acquired Factor Vii Deficiency	12
923	c	ATS521	Autosomal Dominant Macrothrombocytopenia Tubb1-Related	12
924	c	SCK051	Sickle Cell-Hemoglobin E Disease Syndrome	12
925		ACT265	Acute Myeloid Leukemia with Mutated Npm1	12
926		NNM003	Non-Amyloid Monoclonal Immunoglobulin Deposition Disease	12
927	c	RRH032	Rare Hemolytic Anemia	12
928		ALK002	Aleukemic Monocytic Leukemia Cutis	11
929	c	EPB003	Epb42-Related Hereditary Spherocytosis	11
930		ACQ072	Acquired Factor V Deficiency	11
931	c	HMR041	Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation	11
932		ALP049	Alopecia Antibody Deficiency	11
933		LTH044	Lutheran Null	11
934		XLN170	X-Linked Mendelian Susceptibility to Mycobacterial Diseases	11
935		CNG613	Congenital Autosomal Recessive Small-Platelet Thrombocytopenia	11
936	c	SSC054	Susceptibility to Localized Juvenile Periodontitis	10
937	c	MXD053	Mixed Phenotype Acute Leukemia with T(9;22)(q34.1;q11.2)	10
938		ACQ074	Acquired Factor Xi Deficiency	10
939		CNS021	Constitutional Neutropenia	10
940	c	MYL070	Myeloproliferative Disease, Autosomal Recessive	9
941	c	CNG266	Congenital Secondary Polycythemia	9
942	c	FML317	Familial Monosomy 7 Syndrome	9
943		CVR004	Cavernous Hemangioma of Colon	9
944		MYC091	Mycosis Fungoides and Variants	9
945	P	ATS205	Autosomal Thrombocytopenia with Normal Platelets	8
946	P	ACT271	Acute Myeloid Leukemia with Mutated Cebpa	8
947	c	SCN062	Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion	8
948		HML043	Hemolytic Disease of the Newborn with Kell Alloimmunization	8
949		ISL138	Isolated Hereditary Giant Platelet Disorder	8
950		UNS001	Unstable Hemoglobin Disease	8
951	c	ACT272	Acute Myeloid Leukemia with T(1;22)(p13;q13)	7
952		NDL018	Nodular Urticaria Pigmentosa	7
953		TCL019	T-Cell Childhood Lymphoblastic Lymphoma	7
954		MTH001	Methotrexate-Associated Lymphoproliferation	7
955	c	RRH028	Rare Hemorrhagic Disorder Due to a Constitutional Platelet Anomaly	7
956	c	RRH018	Rare Hemorrhagic Disorder Due to a Qualitative Platelet Defect	7
957		EXT049	Extramedullary Soft Tissue Plasmacytoma	7
958	c	RRF001	Rare Form of Salmonellosis	7
959	c	RRH016	Rare Hemorrhagic Disorder Due to an Acquired Platelet Anomaly	7
960	c	RRH013	Rare Hemorrhagic Disorder Due to a Platelet Anomaly	7
961		ACT184	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent	6
962		ISL142	Isolated Constitutional Thrombocytopenia	6
963		INF192	Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia	6
964	c	RRH010	Rare Hypoparathyroidism	6
965		PRM370	Primary Acquired Red Cell Aplasia	6
966		ACT185	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor	6
967		BTT010	Beta-Thalassemia Associated with Another Hemoglobin Anomaly	6
968	c	RRH017	Rare Hemorrhagic Disorder Due to a Constitutional Thrombocytopenia	6
969	c	TTL014	Total Autosomal Monosomy	6
970		PRM165	Primary Plasmacytoma of the Bone	6
971		ERL062	Early-Onset Autoimmunity-Autoinflammation-Immunodeficiency Syndrome	6
972	P	IND014	Indolent Primary Cutaneous T-Cell Lymphoma	6
973	c	RRT016	Rare Autonomic Nervous System Disorder	6
974		HYP626	Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections	5
975		ACT158	Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation	5
976	c	HRD112	Hereditary Thrombocytopenia with Normal Platelets	5
977		IMM269	Immune Deficiency Due to Impaired Neutrophil Phagocytosis and Migration	5
978		HYP627	Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections	5
979		DNS011	Dense Granule Disease	5
980		IMM217	Immunodeficiency Predominantly Affecting Antibody Production	5
981		ATS435	Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Complete Deficiency	5
982		MXD055	Mixed Phenotype Acute Leukemia with Bcr-Abl1	5
983		ATS434	Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency	5
984	c	RRH029	Rare Hemorrhagic Disorder Due to a Constitutional Coagulation Factors Defect	5
985		ATS436	Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency	5
986	c	RRH002	Rare Hemorrhagic Disorder Due to an Acquired Coagulation Factor Defect	5
987	c	RRH014	Rare Hemorrhagic Disorder Due to a Coagulation Factors Defect	5
988	c	HML057	Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies	5
989	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	5
990		SCK052	Sickle Cell Disease Associated with Another Hemoglobin Anomaly	5
991		PRM300	Primary Immunodeficiency Due to a Defect in Adaptive Immunity	5
992		CLS046	Classic Hodgkin Lymphoma, Lymphocyte-Rich Type	5
993		PRM338	Primary Immunodeficiency Due to a Defect in Innate Immunity	4
994		CNS010	Constitutional Dyserythropoietic Anemia	4
995		BTT008	Beta-Thalassemia with Other Manifestations	4
996		IMM205	Immunodeficiency Syndrome with Autoimmunity	4
997		IMM203	Immune Dysregulation Disease with Immunodeficiency	4
998		SYN123	Syndromic Constitutional Thrombocytopenia	4
999		IMM052	Immunodeficiency Due to Absence of Thymus	4
1000		CNS019	Constitutional Sideroblastic Anemia	4
1001		SPC020	Specific Antibody Deficiency with Normal Immunoglobulin Concentrations and Normal Numbers of B Cells	4
1002		RRC023	Rare Constitutional Aplastic Anemia	4
1003		IMM208	Immunodeficiency with Severe Reduction in Serum Igg and Iga with Normal/elevated Igm and Normal Number of B-Cells	3
1004	c	RRC032	Rare Constitutional Hemolytic Anemia Due to a Red Cell Membrane Anomaly	3
1005	P	CNS017	Constitutional Megaloblastic Anemia Due to Folate Metabolism Disorder	3
1006		OTH016	Other Immunodeficiency Syndrome with Predominantly Antibody Defects	3
1007		PRM313	Primary Organ-Specific Lymphoma	3
1008		PRT104	Protein S Acquired Deficiency	3
1009		HST023	Histiocytic and Dendritic Cell Tumor	3
1010		IMM213	Immune Dysregulation with Inflammatory Bowel Disease	3
1011		GNT055	Genetic Susceptibility to Infections Due to Particular Pathogens	3
1012		CNG561	Congenital Vitamin K-Dependent Coagulation Factors Deficiency	3
1013		SYN115	Syndromic Agammaglobulinemia	3
1014		IMM211	Immunodeficiency Due to a Complement Regulatory Deficiency	3
1015		RRC008	Rare Acquired Deficiency Anemia	3
1016	c	CNS016	Constitutional Megaloblastic Anemia Due to Vitamin B12 Metabolism Disorder	3
1017		CMB113	Combined Deficiency of Factor Vii and Factor X	2
1018		FCT036	Factor V Amsterdam Bleeding Disorder	2
1019		CNS014	Constitutional Deficiency Anemia	2
1020		FMR001	Femoral Vein Thrombophlebitis	23
1021		PLM033	Pulmonary Embolism	57
1022		BDD001	Budd-Chiari Syndrome	64
1023	P	VSC007	Vascular Disease	64
1024	c	RRV009	Rare Vascular Disease	14
1025	P	EXD001	Exudative Vitreoretinopathy	60
1026	c	EXD004	Exudative Vitreoretinopathy 4	40
1027	c	EXD012	Exudative Vitreoretinopathy 7	36
1028	c	EXD006	Exudative Vitreoretinopathy 5	31
1029	c	EXD010	Exudative Vitreoretinopathy 6	29
1030	c	EXD007	Exudative Vitreoretinopathy 3	25
1031	P	GST053	Gastric Cancer	83
1032	c	PLM164	Pulmonary Hypertension, Primary, 1	76
1033	P	BLD134	Bladder Cancer	74
1034	P	HYP724	Hyperlipoproteinemia, Type Iii	72
1035	c	HYP768	Hyperlipoproteinemia, Type I	69
1036	P	GLC113	Galactosemia I	66
1037	P	ART005	Arteriovenous Malformation	65
1038		ANG020	Angiosarcoma	64
1039		HYP052	Hyperkalemic Periodic Paralysis	63
1040		CHR001	Churg-Strauss Syndrome	61
1041		CYS010	Cystinosis	59
1042	c	HYP740	Hyperlipoproteinemia, Type V	57
1043		HYP003	Hypermethioninemia	56
1044		HYP074	Hypersensitivity Vasculitis	56
1045		ALL010	Allergic Contact Dermatitis	56
1046	c	GLC111	Galactosemia Ii	55
1047		SPR004	Supravalvular Aortic Stenosis	54
1048	c	GLC112	Galactosemia Iii	53
1049	c	HYP739	Hyperlipoproteinemia, Type Iv	53
1050	P	RST002	Restrictive Cardiomyopathy	53
1051		HRT012	Heart Valve Disease	52
1052	P	TBL031	Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	51
1053		ERY029	Erythermalgia, Primary	48
1054	c	CRD098	Cardiomyopathy, Familial Restrictive, 3	47
1055	c	TBL032	Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	45
1056	c	CRD176	Cardiomyopathy, Familial Restrictive, 1	42
1057	c	PLM127	Pulmonary Hypertension, Primary, 3	38
1058	c	PLM121	Pulmonary Hypertension, Primary, 4	35
1059	c	PLM128	Pulmonary Hypertension, Primary, 2	33
1060	c	NTR054	Neutropenia, Severe Congenital, 8, Autosomal Dominant	33
1061	c	TBL033	Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	30
1062	c	GLC115	Galactosemia Iv	30
1063	c	BLD008	Bladder Carcinoma in Situ	28
1064	c	HYP819	Hyperlipoproteinemia, Type Id	26
1065	c	PRT258	Portal Hypertension, Noncirrhotic, 2	26
1066	c	TBL034	Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	24
1067	c	PLM202	Pulmonary Hypertension, Primary, 5	21
1068	c	CRD254	Cardiomyopathy, Familial Restrictive, 6	21
1069	c	CRD057	Cardiomyopathy, Familial Restrictive, 2	20
1070	c	HRD215	Hereditary Gastric Cancer	16
1071	c	RRR004	Rare Arteriovenous Malformation	10
1072		UTR057	Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis	10
1073	c	ATS404	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations	7
1074	c	RRP017	Rare Pulmonary Hypertension	7
1075	c	MCL042	Macular Degeneration, Age-Related, 1	82
1076	c	LKM061	Leukemia, Acute Myeloid	82
1077		IMM167	Immune Deficiency Disease	79
1078	c	THR092	Thrombophilia Due to Thrombin Defect	76
1079	P	LKM071	Leukemia, Chronic Lymphocytic	75
1080	c	HMC039	Hemochromatosis, Type 1	75
1081	c	INF071	Inflammatory Bowel Disease 1	74
1082	c	MSM022	Mismatch Repair Cancer Syndrome 1	73
1083	c	LKM063	Leukemia, Chronic Myeloid	73
1084	c	HMP029	Hemophilia a	73
1085	c	HYP836	Hypercholesterolemia, Familial, 1	72
1086	P	LVR013	Liver Disease	71
1087	c	HYP331	Hyperphenylalaninemia, Bh4-Deficient, a	71
1088	c	HMP004	Hemophilia B	70
1089		PLY001	Polycythemia Vera	68
1090	P	GLN011	Glanzmann Thrombasthenia 1	68
1091	P	PRP003	Porphyria Cutanea Tarda	68
1092		CNG034	Congestive Heart Failure	67
1093	c	CNG411	Congenital Disorder of Glycosylation, Type in	67
1094	c	LNG044	Long Qt Syndrome 1	67
1095	P	NRV007	Nervous System Disease	67
1096	P	HYP098	Hypereosinophilic Syndrome	66
1097	P	AGM001	Agammaglobulinemia	65
1098		ATH013	Atherosclerosis Susceptibility	64
1099		LSC001	Lesch-Nyhan Syndrome	64
1100		MGL001	Megaloblastic Anemia	64
1101		MYL009	Myelodysplastic Syndrome	64
1102		CHN016	Cohen Syndrome	64
1103	P	LNG028	Long Qt Syndrome	63
1104	P	ACR001	Aicardi-Goutieres Syndrome	63
1105		PRL009	Prolactinoma	63
1106	c	ANM036	Anemia, Sideroblastic, 1	63
1107	c	VTM027	Vitamin D-Dependent Rickets, Type 2a	61
1108	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	61
1109	P	BLD124	Bleeding Disorder, Platelet-Type, 11	61
1110		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	61
1111	P	NPH012	Nephrotic Syndrome	61
1112	P	THR005	Thrombotic Thrombocytopenic Purpura	60
1113	c	HYP731	Hyperaldosteronism, Familial, Type I	60
1114	c	LNG047	Long Qt Syndrome 2	59
1115	P	MYL006	Myeloid Leukemia	59
1116		CST005	Castleman Disease	59
1117		LGG001	Legg-Calve-Perthes Disease	59
1118		NNK001	Nonaka Myopathy	59
1119	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	59
1120		NTR042	Neutrophilic Dermatosis, Acute Febrile	59
1121		CHR063	Chronic Mucocutaneous Candidiasis	59
1122	c	THR082	Thrombophilia Due to Activated Protein C Resistance	59
1123		PYR041	Pyruvate Kinase Deficiency of Red Cells	58
1124		FCT004	Factor Xii Deficiency	58
1125	P	BRT004	Bartter Disease	57
1126	c	ACT134	Acute Liver Failure	57
1127		HYP458	Hyper Ige Syndrome	56
1128		LYM027	Lymphopenia	56
1129	c	HMC009	Hemochromatosis Type 2	56
1130	c	LNG048	Long Qt Syndrome 3	56
1131	P	DFF005	Diffuse Large B-Cell Lymphoma	55
1132	c	HMC035	Hemochromatosis, Type 4	55
1133		HMG005	Hemoglobinopathy	55
1134	c	INF037	Inflammatory Bowel Disease	54
1135	c	HYP840	Hypercholesterolemia, Familial, 4	54
1136		IMM080	Immunodeficiency 23	54
1137		CRD137	Cardiogenic Shock	54
1138	c	FNC045	Fanconi Anemia, Complementation Group F	53
1139		RVS001	Revesz Syndrome	53
1140		FCT005	Factor Xiii Deficiency	53
1141	c	LKM070	Leukemia, Acute Monocytic	53
1142		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	53
1143		IMM011	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	53
1144	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	52
1145	c	LKM056	Leukemia, Chronic Lymphocytic 2	52
1146		IMM095	Immunodeficiency 35	52
1147	P	THR015	Thrombophilia	52
1148	P	PLM085	Pulmonary Hemosiderosis	52
1149	c	CHR037	Chronic Eosinophilic Pneumonia	52
1150	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	52
1151	P	SDR003	Sideroblastic Anemia	52
1152	P	RNL007	Renal Tubular Acidosis	51
1153	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	51
1154		RSS025	Ras-Associated Autoimmune Leukoproliferative Disorder	51
1155	c	HMC010	Hemochromatosis, Type 3	51
1156	P	ESN008	Eosinophilic Pneumonia	51
1157		MNN020	Meningococcal Infection	51
1158	P	PRS049	Persistent Mullerian Duct Syndrome	51
1159	P	CMP008	Compartment Syndrome	51
1160		AMB001	Amebiasis	51
1161		THR009	Thrombocytopenia-Absent Radius Syndrome	51
1162		PRV004	Periventricular Leukomalacia	50
1163	c	HYP837	Hypercholesterolemia, Familial, 2	50
1164	P	HYP605	Hyperphenylalaninemia, Bh4-Deficient, B	50
1165		PLM035	Pulmonary Eosinophilia	50
1166	P	BLY001	B-Lymphoblastic Leukemia/lymphoma	50
1167	c	CHR417	Chronic Graft Versus Host Disease	50
1168		CHR728	Chronic Myelogenous Leukemia, Bcr-Abl1 Positive	49
1169		3HY005	3-Hydroxyacyl-Coa Dehydrogenase Deficiency	49
1170	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	49
1171	c	CNT035	Central Nervous System Disease	49
1172		IMM184	Immunodeficiency 17	49
1173	c	CNG199	Congenital Disorder of Glycosylation, Type Im	49
1174		HST016	Histiocytic Sarcoma	48
1175		HYP088	Hyper-Igd Syndrome	48
1176		JCB001	Jacobsen Syndrome	48
1177	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	48
1178		SPL018	Splenomegaly	48
1179	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	48
1180	P	PLM025	Pulmonary Venoocclusive Disease	48
1181	c	FML191	Familial Long Qt Syndrome	48
1182	c	TCL005	T-Cell Prolymphocytic Leukemia	48
1183	c	BRT042	Bartter Syndrome, Type 3	48
1184	P	BWL003	Bowel Dysfunction	48
1185		HYP870	Hyperuricemia, Hprt-Related	47
1186		PRT003	Partington Syndrome	47
1187	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	47
1188	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	47
1189	c	LNG050	Long Qt Syndrome 5	47
1190		RFR010	Refractory Anemia	47
1191	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	47
1192	c	ACR116	Aicardi-Goutieres Syndrome 1	47
1193	c	FNC023	Fanconi Anemia, Complementation Group N	47
1194	P	MSM014	Mismatch Repair Cancer Syndrome	47
1195	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	47
1196		PRL017	Prolymphocytic Leukemia	46
1197	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	46
1198	c	NJM002	Nijmegen Breakage Syndrome-Like Disorder	46
1199	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	46
1200		LYM126	Lymphoma Aids Related	45
1201	c	LNG051	Long Qt Syndrome 6	45
1202	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	45
1203	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	45
1204		WHP001	Whipple Disease	45
1205		PRT012	Prothrombin Deficiency	45
1206	c	INF145	Infantile Liver Failure Syndrome 1	45
1207	c	AGM023	Agammaglobulinemia 4, Autosomal Recessive	45
1208	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	45
1209	c	ADL052	Adult Acute Lymphocytic Leukemia	45
1210	c	PLM170	Pulmonary Venoocclusive Disease 1, Autosomal Dominant	45
1211	c	LNG053	Long Qt Syndrome 9	44
1212	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	44
1213		HGH020	High Molecular Weight Kininogen Deficiency	44
1214		SPL012	Splenic Disease	44
1215	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	44
1216	c	FNC047	Fanconi Anemia, Complementation Group Q	44
1217		NSL029	Nasal Type Extranodal Nk/t-Cell Lymphoma	44
1218	c	LNG098	Long Qt Syndrome 14	44
1219		IMM096	Immunodeficiency 30	43
1220	c	ACQ010	Acquired Polycythemia	43
1221		DMN007	D-Minus Hemolytic Uremic Syndrome	43
1222		IMM223	Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis	43
1223	c	LNG096	Long Qt Syndrome 15	43
1224	c	ERY032	Erythrocytosis, Familial, 4	43
1225	c	TCL001	T-Cell Adult Acute Lymphocytic Leukemia	43
1226		MNC006	Monoclonal Gammopathy of Uncertain Significance	43
1227	c	HMC021	Hemochromatosis, Type 2a	43
1228		QLT001	Qualitative Platelet Defect	43
1229	c	CNG198	Congenital Disorder of Glycosylation, Type Il	42
1230		MYL013	Myeloperoxidase Deficiency	42
1231	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	42
1232	c	LNG056	Long Qt Syndrome 12	42
1233	c	PRM038	Primary Agammaglobulinemia	42
1234	c	LNG057	Long Qt Syndrome 13	42
1235		ACT217	Acute Myeloid Leukemia with Recurrent Genetic Anomaly	42
1236	c	LNG046	Long Qt Syndrome 11	42
1237	c	CNG379	Congenital Disorder of Glycosylation, Type It	42
1238	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	42
1239	c	DMN006	Diamond-Blackfan Anemia 3	42
1240	c	LNG045	Long Qt Syndrome 10	42
1241	c	HYP272	Hypercholesterolemia, Familial, 3	42
1242	c	HMC019	Hemochromatosis, Type 2b	42
1243		BLR027	Blue Rubber Bleb Nevus	42
1244	c	BLD120	Bleeding Disorder, Platelet-Type, 8	42
1245		IMM186	Immunodeficiency 27b	42
1246		IMM178	Immunodeficiency 31b	42
1247	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	41
1248		PRP038	Properdin Deficiency, X-Linked	41
1249	c	ACQ005	Acquired Thrombocytopenia	41
1250	c	CNG195	Congenital Disorder of Glycosylation, Type Id	41
1251	c	FNC052	Fanconi Anemia, Complementation Group T	41
1252		LYM042	Lymphocytic Colitis	41
1253	c	HMC034	Hemochromatosis, Type 5	41
1254	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	40
1255	c	MCL078	Macular Degeneration, Age-Related, 14	40
1256		EXT010	Extramedullary Plasmacytoma	40
1257		ALP013	Alpha-Thalassemia Myelodysplasia Syndrome	40
1258	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	40
1259	c	PLM167	Pulmonary Venoocclusive Disease 2, Autosomal Recessive	40
1260		MST001	Mast-Cell Sarcoma	40
1261	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	40
1262		LNG004	Langerhans Cell Sarcoma	40
1263	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	40
1264	c	LVR030	Liver Failure, Infantile, Transient	40
1265		CHL149	Childhood Acute Myeloid Leukemia	40
1266	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	40
1267	c	MCL038	Macular Degeneration, Age-Related, 4	39
1268		NDL024	Nodal Marginal Zone Lymphoma	39
1269	c	MCL043	Macular Degeneration, Age-Related, 2	39
1270	P	SNG014	Singleton-Merten Syndrome	39
1271	c	HMN021	Human T-Cell Leukemia Virus Type 1	38
1272	c	MCL041	Macular Degeneration, Age-Related, 7	38
1273		IMM100	Immunoglobulin Kappa Light Chain Deficiency	38
1274	c	AGM013	Agammaglobulinemia 1, Autosomal Recessive	38
1275	c	MCL044	Macular Degeneration, Age-Related, 9	38
1276	c	ACR091	Aicardi-Goutieres Syndrome 4	38
1277		CLD007	Cold Agglutinin Disease	38
1278		HPR006	Heparin Cofactor Ii Deficiency	38
1279	c	ACR088	Aicardi-Goutieres Syndrome 3	38
1280	c	FNC046	Fanconi Anemia, Complementation Group P	38
1281	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	37
1282	c	GMM003	Gamma Heavy Chain Disease	37
1283		THR068	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	37
1284		IMM224	Immunodeficiency 68	37
1285	c	BLD157	Bleeding Disorder, Platelet-Type, 9	37
1286	c	ACR092	Aicardi-Goutieres Syndrome 5	37
1287	c	ACR081	Aicardi-Goutieres Syndrome 6	36
1288	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	36
1289		MLG141	Malignant Atrophic Papulosis	36
1290	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	36
1291	c	HYP438	Hyperaldosteronism, Familial, Type Iii	36
1292	c	ERY063	Erythrocytosis, Familial, 5	36
1293	c	ACR090	Aicardi-Goutieres Syndrome 2	36
1294		HDG002	Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance	36
1295		INT221	Intravascular Large B-Cell Lymphoma	36
1296		ATM069	Autoimmune Hemolytic Anemia, Warm Type	36
1297	c	PRM149	Primary Hypereosinophilic Syndrome	36
1298		CHL170	Childhood Lymphoma	36
1299	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	36
1300		HST008	Histiocytic and Dendritic Cell Cancer	35
1301		PST046	Post-Transplant Lymphoproliferative Disease	35
1302		HGH045	High-Grade B-Cell Lymphoma Double-Hit/triple-Hit	35
1303	c	INF076	Inflammatory Bowel Disease 18	35
1304		HMC042	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	35
1305	c	BRN132	Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	35
1306	c	CNG188	Congenital Disorder of Glycosylation, Type if	35
1307	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	35
1308	c	ADL001	Adult Lymphoma	35
1309		SYS077	Systemic Mastocytosis with Associated Hematologic Neoplasm	35
1310	c	INF170	Inflammatory Bowel Disease 29	34
1311	P	HVY001	Heavy Chain Disease	34
1312	P	LKM005	Leukemia, T-Cell, Chronic	34
1313		BLS010	Blastic Plasmacytoid Dendritic Cell Neoplasm	34
1314	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	34
1315	c	HMG004	Hemoglobin D Disease	34
1316		TTR005	Tetrahydrobiopterin Deficiency	34
1317	c	ACR084	Aicardi-Goutieres Syndrome 7	33
1318		TCL021	T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations	33
1319		GLY061	Glycogen Storage Disease 0, Muscle	33
1320	c	INF093	Inflammatory Bowel Disease 14	33
1321		IMM068	Immunodeficiency 8	33
1322	c	SNG011	Singleton-Merten Syndrome 1	33
1323		FLC001	Folic Acid Deficiency Anemia	33
1324		DFF041	Diffuse Large B-Cell Lymphoma Activated B-Cell Type	33
1325		IMM212	Immunodeficiency by Defective Expression of Mhc Class I	32
1326		SVR032	Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation	32
1327		IMM183	Immunodeficiency 32a	32
1328	c	INF088	Inflammatory Bowel Disease 5	32
1329		AMM001	Amme Complex	32
1330	c	CNG031	Congenital Nervous System Abnormality	32
1331	c	PRP091	Porphyria Cutanea Tarda, Type I	32
1332		LNG013	Lung Lymphoma	32
1333		DPT001	Dipetalonemiasis	31
1334	c	INF194	Infantile Liver Failure Syndrome	31
1335	c	INF161	Inflammatory Bowel Disease 28	31
1336		GRN032	Granulomatous Slack Skin Disease	31
1337		ACT248	Acute Monoblastic/monocytic Leukemia	31
1338	c	BNM010	Bone Marrow Failure Syndrome 1	31
1339		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	31
1340	c	ATM007	Autoimmune Disease of Central Nervous System	31
1341	c	AGM021	Agammaglobulinemia 2, Autosomal Recessive	31
1342	c	HYP708	Hyperaldosteronism, Familial, Type Iv	31
1343		ACT176	Acute Panmyelosis with Myelofibrosis	31
1344		ATY012	Atypical Mycobacteriosis, Familial	31
1345	c	INF138	Infantile Liver Failure Syndrome 2	31
1346		PTH001	Pthirus Pubis Infestation	30
1347		NLL001	Null-Cell Leukemia	30
1348	c	MCL052	Macular Degeneration, Age-Related, 13	30
1349		PLM049	Plummer Vinson Syndrome	30
1350	c	GLY023	Glycogen Storage Disease Type 0	30
1351	c	AGM022	Agammaglobulinemia 3, Autosomal Recessive	30
1352		SLT017	Solitary Mastocytoma of the Skin	30
1353	c	INF086	Inflammatory Bowel Disease 3	30
1354		ACD001	Acidophil Adenoma	30
1355		PRM155	Primary Cutaneous Anaplastic Large Cell Lymphoma	30
1356		SPT002	Septicemic Plague	30
1357	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	30
1358	c	INF160	Inflammatory Bowel Disease 17	29
1359		IMM236	Immune-Mediated Thrombotic Thrombocytopenic Purpura	29
1360		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	29
1361	P	NNT037	Neonatal Inflammatory Skin and Bowel Disease	29
1362		CTN027	Cutaneous Mastocytoma	29
1363	c	AGM020	Agammaglobulinemia 6, Autosomal Recessive	29
1364	c	INF077	Inflammatory Bowel Disease 19	29
1365		PRS108	Persistent Polyclonal B-Cell Lymphocytosis	29
1366		BSP001	Basophil Adenoma	29
1367		NNT007	Neonatal Leukemia	29
1368	c	INF089	Inflammatory Bowel Disease 6	29
1369	P	INH011	Inherited Bone Marrow Failure Syndromes	28
1370	c	INF144	Inflammatory Skin and Bowel Disease, Neonatal, 1	28
1371	P	HMG026	Hemoglobin E-Beta-Thalassemia Syndrome	28
1372	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	28
1373	c	BNM032	Bone Marrow Failure Syndrome 4	28
1374	c	AGM015	Agammaglobulinemia 7, Autosomal Recessive	28
1375		CLS052	Classic Hairy Cell Leukemia	28
1376	c	BLY012	B-Lymphoblastic Leukemia/lymphoma with T(9;22)(q34.1;q11.2)	28
1377		EPT007	Epithelial Malignant Thymoma	28
1378	c	MCL077	Macular Degeneration, Age-Related, 5	28
1379	c	MCL030	Macular Degeneration, Age-Related, 10	28
1380	c	LNG052	Long Qt Syndrome 8	28
1381	c	CNG626	Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive	27
1382	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	27
1383	c	INF075	Inflammatory Bowel Disease 16	27
1384		IMM134	Immunodeficiency, Common Variable, 13	27
1385	c	BNM013	Bone Marrow Failure Syndrome 3	27
1386		MTH011	Methionine Adenosyltransferase Deficiency	27
1387	c	INF072	Inflammatory Bowel Disease 11	27
1388	c	MSM025	Mismatch Repair Cancer Syndrome 4	27
1389		OST008	Osteosclerotic Myeloma	27
1390		LRG008	Large Granular Lymphocyte Leukemia	27
1391		ACT255	Acute Myeloid Leukemia with Bcr-Abl1	27
1392		NDL020	Nodal Marginal Zone B-Cell Lymphoma	27
1393	c	TCL024	T-Cell Non-Hodgkin Lymphoma	27
1394	c	ACR124	Aicardi-Goutieres Syndrome 9	27
1395	c	THR023	Thrombophilia Due to Thrombomodulin Defect	26
1396	c	INF078	Inflammatory Bowel Disease 2	26
1397	c	CNG623	Congenital Disorder of Glycosylation, Type Iiw	26
1398	c	EPD086	Epidermodysplasia Verruciformis 4	26
1399		HYP197	Hypofibrinogenemia, Familial	26
1400	c	CNG622	Congenital Disorder of Glycosylation, Type 2v	26
1401		MYL062	Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities	26
1402	c	LVR033	Liver Disease, Severe Congenital	25
1403		PRM247	Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection	25
1404	P	HFH002	Hfe Hemochromatosis	25
1405	c	INF082	Inflammatory Bowel Disease 23	25
1406		ALK017	Alk-Positive Large B-Cell Lymphoma	25
1407	c	LNG114	Long Qt Syndrome 16	25
1408		URT017	Ureteral Lymphoma	25
1409	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	25
1410	c	MCL039	Macular Degeneration, Age-Related, 8	25
1411	c	INF190	Infantile Liver Failure Syndrome 3	25
1412	c	INF067	Inflammatory Bowel Disease 10	25
1413	c	MCL040	Macular Degeneration, Age-Related, 3	25
1414		HML054	Hemolytic Disease Due to Fetomaternal Alloimmunization	25
1415	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	25
1416	c	BLD123	Bleeding Disorder, Platelet-Type, 13	25
1417		PLM068	Pulmonary Vein Stenosis	25
1418	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	24
1419	c	CNG627	Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant	24
1420	c	INF092	Inflammatory Bowel Disease 9	24
1421	c	INF083	Inflammatory Bowel Disease 24	24
1422		SYS080	Systemic Epstein-Barr Virus Positive T-Cell Lymphoma of Childhood	24
1423		UNC014	Unicentric Castleman Disease	24
1424	c	BLY009	B-Lymphoblastic Leukemia/lymphoma, Bcr-Abl1-Like	24
1425		ATN026	Autoinflammatory Syndrome, Familial, with or Without Immunodeficiency	24
1426	c	INF068	Inflammatory Bowel Disease 13	24
1427		ACT263	Acute Myeloid Leukemia Without Maturation	24
1428	c	MCL065	Macular Degeneration, Age-Related, 15	24
1429	c	ATR085	Atrial Fibrillation, Familial, 18	24
1430	c	INF074	Inflammatory Bowel Disease 15	24
1431	c	SNG012	Singleton-Merten Syndrome 2	24
1432	c	ACR123	Aicardi-Goutieres Syndrome 8	24
1433		HDG004	Hodgkin's Granuloma	24
1434	c	MCL036	Macular Degeneration, Age-Related, 6	24
1435		SBL003	Subleukemic Leukemia	24
1436		FLL042	Folliculotropic Mycosis Fungoides	23
1437	c	INF079	Inflammatory Bowel Disease 20	23
1438		PRT114	Prothrombin Thrombophilia	23
1439		CRT005	Cortical Thymoma	23
1440	c	MSM024	Mismatch Repair Cancer Syndrome 3	23
1441		HMC036	Homocystinuria Without Methylmalonic Aciduria	23
1442	c	AGM028	Agammaglobulinemia 8b, Autosomal Recessive	23
1443	c	AGM024	Agammaglobulinemia 5, Autosomal Dominant	23
1444	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	23
1445		IMM029	Immunodeficiency Due to Defect in Mapbp-Interacting Protein	23
1446	c	INF073	Inflammatory Bowel Disease 12	23
1447		CHR680	Chronic Lymphoproliferative Disorder of Natural Killer Cells	23
1448	c	INF146	Inflammatory Skin and Bowel Disease, Neonatal, 2	23
1449		RTR005	Retroperitoneal Lymphoma	23
1450	c	BNM033	Bone Marrow Failure Syndrome 5	23
1451	c	AGM027	Agammaglobulinemia 8a, Autosomal Dominant	23
1452	c	ANT010	Anterior Compartment Syndrome	23
1453	P	MCL058	Macular Degeneration, Early-Onset	23
1454	c	AGM025	Agammaglobulinemia 9, Autosomal Recessive	22
1455	P	PLM064	Pulmonary Sequestration	22
1456	c	TFR001	Tfr2-Related Hereditary Hemochromatosis	22
1457	c	INF195	Inflammatory Bowel Disease 31, Autosomal Recessive	22
1458	c	MSM023	Mismatch Repair Cancer Syndrome 2	22
1459		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	22
1460	c	INF162	Inflammatory Bowel Disease 25	22
1461		ALK003	Aleukemic Leukemia Cutis	22
1462		DRG014	Drug-Induced Autoimmune Hemolytic Anemia	22
1463		WRM004	Warm Antibody Hemolytic Anemia	22
1464		AGG011	Aggressive B-Cell Non-Hodgkin Lymphoma	22
1465	c	INF085	Inflammatory Bowel Disease 27	22
1466		SMP006	Simple Cryoglobulinemia	21
1467		MDS006	Mediastinal Gray Zone Lymphoma	21
1468		LGH014	Light and Heavy Chain Deposition Disease	21
1469	c	ANM034	Anemia, Sideroblastic, 4	21
1470		ADL095	Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies	21
1471	c	MCL051	Macular Degeneration, Age-Related, 12	21
1472	c	INF087	Inflammatory Bowel Disease 4	21
1473	c	BNM034	Bone Marrow Failure Syndrome 6	21
1474		NKD001	Nik Deficiency	21
1475	c	INF090	Inflammatory Bowel Disease 7	20
1476		IMM132	Immunodeficiency Due to a Classical Component Pathway Complement Deficiency	20
1477		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	20
1478		CHL158	Childhood Acute Megakaryoblastic Leukemia	20
1479	c	AGM026	Agammaglobulinemia 10, Autosomal Dominant	20
1480		ESP015	Esophagus Lymphoma	20
1481	c	RRH023	Rare Hereditary Hemochromatosis	20
1482		TLN013	Telangiectasia Macularis Eruptive Perstans	20
1483	c	INF080	Inflammatory Bowel Disease 21	20
1484		TBS010	T-B- Severe Combined Immunodeficiency	20
1485		CHR673	Chromosome 14q32 Duplication Syndrome, 700-Kb	19
1486		LRN007	Laron Syndrome with Immunodeficiency	19
1487	c	INF081	Inflammatory Bowel Disease 22	19
1488	P	PRM299	Primary Cutaneous B-Cell Lymphoma	18
1489		DFF042	Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type	18
1490	c	HMG027	Hemoglobin C-Beta-Thalassemia Syndrome	18
1491		TRN013	Transient Neonatal Thrombocytopenia	18
1492	c	HMN022	Human T-Cell Leukemia Virus Type 2	18
1493		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	18
1494		MTH049	Methotrexate-Associated Lymphoproliferative Disorders	18
1495		IMM130	Immunoneurologic Disorder, X-Linked	18
1496		BNM035	Bone Marrow Failure and Diabetes Mellitus Syndrome	18
1497	c	RNL117	Renal Tubular Acidosis Iii	17
1498		ACT196	Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2)	17
1499	c	MCL032	Macular Degeneration, Age-Related, 11	17
1500		EPS031	Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly	17
1501	c	INF084	Inflammatory Bowel Disease 26	17
1502	c	INF091	Inflammatory Bowel Disease 8	17
1503		RCN002	Ricin Poisoning	17
1504		RHN014	Rh-Null, Amorph Type	16
1505		BLY008	B-Lymphoblastic Leukemia/lymphoma with Tcf3-Pbx1	16
1506		ACQ049	Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease	16
1507	c	SCN042	Secondary Hypereosinophilic Syndrome	15
1508	P	MXD052	Mixed Phenotype Acute Leukemia with T	15
1509		BCL019	B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome	15
1510		RRD019	Rare Deficiency Anemia	15
1511		BLL014	Bullous Diffuse Cutaneous Mastocytosis	14
1512	c	ST2001	St2 Diffuse Large B-Cell Lymphoma	14
1513		NNS057	Non-Severe Combined Immunodeficiency	14
1514		STR108	Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome	14
1515		CMB055	Combined Immunodeficiency Due to Crac Channel Dysfunction	13
1516	c	CHR698	Chronic Mast Cell Leukemia	13
1517		GLT042	Glutathione Synthetase Deficiency of Erythrocytes	13
1518	c	PRM152	Primary Renal Tubular Acidosis	12
1519	c	BLY015	B-Lymphoblastic Leukemia/lymphoma with T(1;19)(q23;p13.3)	12
1520		THM022	Thumb Agenesis, Short Stature, and Immunodeficiency	12
1521	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	12
1522	c	CNG257	Congenital Pulmonary Sequestration	12
1523		ISL032	Isolated Bone Marrow Mastocytosis	12
1524		IMM215	Immunodeficiency-Associated Lymphoproliferative Disease	12
1525	c	LKM053	Leukemia, Chronic Lymphocytic 4	11
1526	c	LKM052	Leukemia, Chronic Lymphocytic 5	11
1527		PSD083	Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	11
1528	c	LKM051	Leukemia, Chronic Lymphocytic 3	11
1529		MYL079	Myeloid and Lymphoid Neoplasms Associated with Pdgfrb Rearrangement	11
1530	c	SCN047	Secondary Pulmonary Hemosiderosis	10
1531	c	N1D001	N1 Diffuse Large B-Cell Lymphoma	10
1532		NTR053	Neutropenia-Monocytopenia-Deafness Syndrome	10
1533	c	LKM050	Leukemia, Chronic Lymphocytic 1	10
1534		PRM148	Primary Lymphoma of the Conjunctiva	10
1535	c	RRN022	Rare Inflammatory Bowel Disease	10
1536	c	IND015	Indolent Primary Cutaneous B-Cell Lymphoma	9
1537	c	AGM029	Agammaglobulinemia 7	9
1538		ERY007	Erythropoietin Polycythemia	9
1539		MLT106	Multiple Paragangliomas Associated with Polycythemia	9
1540	c	CNG628	Congenital Disorder of Glycosylation Iw	9
1541		DND023	Dendritic Cell Sarcoma Not Otherwise Specified	9
1542		ACT267	Acute Myeloid Leukemia with Mutated Runx1	9
1543		MDC003	Medich Giant Platelet Syndrome	9
1544	c	AGM032	Agammaglobulinemia 10	9
1545		CDN004	Cadins Disease	8
1546	c	SBC015	Subacute Monocytic Leukemia	8
1547	c	THR126	Thrombophilia Due to Decreased Release of Plat	8
1548		THR121	Thrombocythemia with Distal Limb Defects	8
1549		UNC013	Unclassified Acute Myeloid Leukemia	8
1550	c	INF187	Infectious Disease of the Nervous System	8
1551	c	RRP004	Rare Primary Hyperaldosteronism	8
1552	c	RRH022	Rare Hereditary Thrombophilia	7
1553		HMG024	Hemoglobinopathy Toms River	7
1554		ATS075	Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene	7
1555		SLT002	Solitary Plasmacytoma of Chest Wall	7
1556	c	ACT261	Acute Myeloid Leukemia with Inv(3) (q21.3;q26.2) or T(3;3) (q21.3;q26.2)	7
1557	c	HML055	Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder	7
1558	c	RRC006	Rare Acquired Hemolytic Anemia	7
1559	c	AGM031	Agammaglobulinemia 9	7
1560	P	AGG008	Aggressive Primary Cutaneous T-Cell Lymphoma	7
1561		LYM152	Lymphoid Hemopathy	7
1562		INT057	Intra-Abdominal Lymph Node Mast Cell Malignancy	7
1563		SMD014	Samd9l-Associated Autoinflammatory Syndrome	7
1564	P	DSR041	Disorder of Multiple Glycosylation	6
1565		CHS004	Chest Wall Parachordoma	6
1566		LYM119	Lymphoplasmacytic Lymphoma Without Igm Production	6
1567		DFF030	Diffuse Large B-Cell Lymphoma with Chronic Inflammation	6
1568		PST004	Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma	6
1569	c	AGM030	Agammaglobulinemia 8a	6
1570		DRM001	Dermal Unilateral Segmental Cavernous Angioma	6
1571		F12001	F12-Associated Cold Autoinflammatory Syndrome	6
1572	c	AGM033	Agammaglobulinemia 8b	5
1573	c	TRM030	Trim22-Related Inflammatory Bowel Disease	5
1574		ATS245	Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency	5
1575		ACT266	Acute Myeloid Leukemia with Biallelic Mutation of Cebpa	5
1576	c	HMN023	Human T-Cell Leukemia Virus Type 3	5
1577	P	RRC007	Rare Constitutional Hemolytic Anemia	5
1578		IMM216	Immunodeficiency Due to a Complement Cascade Protein Anomaly	5
1579	c	A53001	A53 Diffuse Large B-Cell Lymphoma	5
1580		CMB110	Combined Immunodeficiency Due to Rela Haploinsufficiency	5
1581		FML368	Familial Hyperinflammatory Lymphoproliferative Immunodeficiency	5
1582	P	RRH027	Rare Hypercholesterolemia	5
1583		MCR178	Macrothrombocytopenia with Mitral Valve Insufficiency	5
1584		TYP022	Typical Urticaria Pigmentosa	5
1585		PLQ001	Plaque-Form Urticaria Pigmentosa	5
1586	c	RRC002	Rare Acquired Aplastic Anemia	5
1587		ATN020	Autoinflammatory Syndrome with Immune Deficiency	4
1588		TMR024	Tumor of Hematopoietic and Lymphoid Tissues	4
1589	c	ALP111	Alpi-Related Inflammatory Bowel Disease	4
1590		LYM154	Lymphoproliferative Disease Associated with Primary Immune Disease	4
1591		SYN173	Syndrome with Alpha-Thalassemia As a Major Feature	4
1592		PRD047	Predisposition to Severe Viral Infection Due to Irf7 Deficiency	4
1593	c	CNS020	Constitutional Anemia Due to Iron Metabolism Disorder	4
1594	c	RRT010	Rare Thrombotic Disorder Due to a Coagulation Factors Defect	3
1595	c	RRT006	Rare Thrombotic Disorder Due to a Constitutional Platelet Anomaly	3
1596		IMM207	Immunodeficiency with Isotype or Light Chain Deficiencies with Normal Number of B-Cells	3
1597	c	RRT007	Rare Thrombotic Disorder Due to a Platelet Anomaly	3
1598	c	RRC031	Rare Constitutional Hemolytic Anemia Due to an Enzyme Disorder	3
1599	c	RRT005	Rare Thrombotic Disorder Due to an Acquired Platelet Anomaly	3
1600	c	RRT008	Rare Thrombotic Disorder Due to an Acquired Coagulation Factors Defect	3
1601	c	RRT009	Rare Thrombotic Disorder Due to a Constitutional Coagulation Factors Defect	3
1602	P	RRC005	Rare Constitutional Anemia	3
1603		OTH017	Other Immunodeficiency Syndromes Due to Defects in Innate Immunity	3
1604		CNS015	Constitutional Neutropenia with Extra-Hematopoietic Manifestations	3
1605		IMM210	Immunodeficiency Due to a Complement Cascade Component Deficiency	3
1606	P	MNS018	Monosomy 7 Myelodysplasia and Leukemia Syndrome 1	34
1607		MYL064	Myeloproliferative/lymphoproliferative Neoplasms, Familial	27
1608		GTL001	Gitelman Syndrome	66
1609	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	65
1610	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	38
1611	c	INT457	Interstitial Lung Disease 2	76
1612	P	PTN014	Patent Ductus Arteriosus 1	59
1613		PYR037	Pyruvate Carboxylase Deficiency	48
1614	c	INT469	Interstitial Lung Disease 1	27
1615		SCK003	Sickle Cell Anemia	76
1616		MYL069	Myeloma, Multiple	75
1617	P	APL001	Aplastic Anemia	74
1618		DFC004	Deficiency Anemia	74
1619	P	WSK001	Wiskott-Aldrich Syndrome	72
1620		LYM133	Lymphoma, Hodgkin, Classic	71
1621	c	BTT014	Beta-Thalassemia	70
1622	c	FNC043	Fanconi Anemia, Complementation Group E	68
1623	c	HMP022	Hemophagocytic Lymphohistiocytosis, Familial, 1	64
1624	c	ANM038	Anemia, Autoimmune Hemolytic	64
1625		FCT002	Factor Xi Deficiency	63
1626	P	OST001	Osteopetrosis	63
1627	c	PSR021	Psoriasis 14, Pustular	62
1628		ACT119	Acute Promyelocytic Leukemia	61
1629		WLD007	Waldenstroem's Macroglobulinemia	61
1630	P	BRN019	Bernard-Soulier Syndrome	61
1631		PRN019	Perinatal Necrotizing Enterocolitis	61
1632		ADN001	Adenosine Deaminase Deficiency	61
1633	P	BCL017	B-Cell Lymphoma	61
1634		IRN001	Iron Deficiency Anemia	59
1635		THR100	Thrombocytopenic Purpura, Autoimmune	59
1636	P	HMP002	Hemophagocytic Lymphohistiocytosis	59
1637	c	ACT073	Acute Leukemia	58
1638	c	OST131	Osteopetrosis, Autosomal Dominant 2	58
1639	P	ERY048	Erythrocytosis, Familial, 2	58
1640	c	FNC042	Fanconi Anemia, Complementation Group D2	58
1641		CMB007	Combined Immunodeficiency	58
1642		GRY002	Gray Platelet Syndrome	57
1643		LNG108	Langerhans Cell Histiocytosis	57
1644		ISV001	Isovaleric Acidemia	57
1645	c	OST163	Osteopetrosis, Autosomal Recessive 3	56
1646	c	MYS033	Miyoshi Muscular Dystrophy 1	56
1647		DYS165	Dysfibrinogenemia, Congenital	55
1648		ORT008	Orotic Aciduria	54
1649	P	ANP001	Anaplastic Large Cell Lymphoma	54
1650	c	FNC024	Fanconi Anemia, Complementation Group D1	54
1651	c	LYM114	Lymphoproliferative Syndrome, X-Linked, 2	54
1652		MRG003	Marginal Zone B-Cell Lymphoma	54
1653	c	FNC029	Fanconi Anemia, Complementation Group I	54
1654		CTS003	Coats Disease	53
1655		PRS127	Pearson Marrow-Pancreas Syndrome	53
1656	P	MYS079	Miyoshi Muscular Dystrophy	53
1657	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	53
1658	c	FNC025	Fanconi Anemia, Complementation Group J	53
1659	P	MNC007	Monocytic Leukemia	53
1660	c	PNT057	Pontocerebellar Hypoplasia, Type 1e	52
1661		MYL075	Myelodysplastic/myeloproliferative Neoplasm	52
1662		TCL025	T-Cell Immunodeficiency with Thymic Aplasia	52
1663	c	STN011	Sting-Associated Vasculopathy with Onset in Infancy	52
1664		IMM166	Immunodeficiency 27a	52
1665	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	52
1666		PLM017	Pulmonary Alveolar Microlithiasis	52
1667	P	MST002	Mast-Cell Leukemia	51
1668		PRP036	Peripheral T-Cell Lymphoma	51
1669		RFT001	Rift Valley Fever	51
1670	c	OST126	Osteopetrosis, Autosomal Recessive 1	50
1671		HYR002	Hoyeraal Hreidarsson Syndrome	50
1672	P	BRT053	Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness	50
1673	c	HMP012	Hemophagocytic Lymphohistiocytosis, Familial, 2	50
1674	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	50
1675	c	PNT037	Pontocerebellar Hypoplasia, Type 3	49
1676		HPR003	Heparin-Induced Thrombocytopenia	49
1677	P	HRD012	Hereditary Elliptocytosis	49
1678		FLL013	Follicular Dendritic Cell Sarcoma	49
1679	c	PRM226	Primary Central Nervous System Lymphoma	49
1680		HMG002	Hemoglobinuria	49
1681		TCL002	T-Cell Large Granular Lymphocyte Leukemia	49
1682	P	CNT005	Central Nervous System Lymphoma	49
1683		NTR036	Neutropenia, Severe Congenital, X-Linked	48
1684		GDS001	Good Syndrome	48
1685	c	VTM029	Vitamin D Hydroxylation-Deficient Rickets, Type 1b	48
1686		IMM074	Immunodeficiency 16	48
1687		IMM252	Immune Dysregulation with Autoimmunity, Immunodeficiency, and Lymphoproliferation	48
1688	c	PNT036	Pontocerebellar Hypoplasia, Type 6	48
1689	c	OST129	Osteopetrosis, Autosomal Recessive 2	48
1690		OBS037	Obesity-Hypoventilation Syndrome	47
1691	c	HMP014	Hemophagocytic Lymphohistiocytosis, Familial, 4	47
1692	c	FNC030	Fanconi Anemia, Complementation Group G	47
1693		FTL012	Fetal and Neonatal Alloimmune Thrombocytopenia	47
1694	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	47
1695	c	OST120	Osteopetrosis, Autosomal Recessive 5	47
1696	P	PNT019	Pontocerebellar Hypoplasia	46
1697	c	HMP013	Hemophagocytic Lymphohistiocytosis, Familial, 3	46
1698		CHR726	Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma	46
1699	c	PNT043	Pontocerebellar Hypoplasia, Type 4	46
1700		QBC001	Quebec Platelet Disorder	45
1701	c	OST136	Osteopetrosis, Autosomal Recessive 7	45
1702		BTT018	Beta-Thalassemia Intermedia	45
1703		PRC049	Precursor T-Cell Acute Lymphoblastic Leukemia	45
1704	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	45
1705	c	HYP716	Hypermanganesemia with Dystonia 1	45
1706	c	MYS014	Miyoshi Muscular Dystrophy 3	44
1707	c	OST125	Osteopetrosis, Autosomal Dominant 1	44
1708	P	PST059	Pustular Psoriasis	44
1709		IMM180	Immunodeficiency 28	44
1710	c	OST134	Osteopetrosis, Autosomal Recessive 6	44
1711	c	NPH072	Nephrotic Syndrome, Type 7	44
1712		IMM176	Immunodeficiency with Hyper-Igm, Type 5	44
1713	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	44
1714	c	PNT032	Pontocerebellar Hypoplasia, Type 9	44
1715	P	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	43
1716	c	ERY064	Erythrocytosis, Familial, 6	43
1717		TST004	Testicular Lymphoma	43
1718		CHL061	Childhood Leukemia	43
1719		MTR088	Mature T-Cell and Nk-Cell Lymphoma	43
1720		PRT011	Protein C Deficiency	43
1721	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	43
1722		IMM222	Immunodeficiency 67	43
1723		CTS005	Catastrophic Antiphospholipid Syndrome	43
1724	P	PRM293	Primary Mediastinal B-Cell Lymphoma	43
1725	c	BRT056	Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness	42
1726	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	41
1727	c	HYP713	Hypermanganesemia with Dystonia 2	41
1728		IMM142	Immunodeficiency 50	41
1729		HNZ004	Heinz Body Anemias	41
1730	c	OST137	Osteopetrosis, Autosomal Recessive 4	41
1731	c	PNT039	Pontocerebellar Hypoplasia, Type 7	41
1732		HMN035	Hemangioma-Thrombocytopenia Syndrome	40
1733		IMM099	Immunodeficiency 33	40
1734		ATN011	Autoinflammation with Infantile Enterocolitis	40
1735	P	ANM035	Anemia, Hypochromic Microcytic, with Iron Overload 1	40
1736		MTH064	Methemoglobinemia, Beta-Globin Type	40
1737		HYP267	Hyperchlorhidrosis, Isolated	40
1738	c	ERY067	Erythrocytosis, Familial, 8	39
1739		IMM187	Immunodeficiency 38 with Basal Ganglia Calcification	39
1740	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	39
1741		THR123	Thrombotic Microangiopathy	39
1742	c	ERY065	Erythrocytosis, Familial, 7	39
1743		IMM181	Immunodeficiency 29	39
1744		LVR002	Liver Angiosarcoma	38
1745		RLP008	Relapsed/refractory Diffuse Large B-Cell Lymphoma	38
1746		CRB138	Core Binding Factor Acute Myeloid Leukemia	38
1747	c	PNT050	Pontocerebellar Hypoplasia, Type 11	38
1748		BTT013	Beta-Thalassemia, Dominant Inclusion Body Type	38
1749	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	38
1750	c	FML124	Familial Hemophagocytic Lymphohistiocytosis 5	37
1751		IMM076	Immunodeficiency 24	37
1752		THY009	Thyroid Lymphoma	37
1753	c	PNT033	Pontocerebellar Hypoplasia, Type 10	37
1754	c	ELL005	Elliptocytosis 2	36
1755		SPL011	Spleen Cancer	36
1756	P	CHL156	Childhood T-Cell Acute Lymphoblastic Leukemia	36
1757		NDL021	Nodular Lymphocyte Predominant Hodgkin Lymphoma	36
1758		IMM131	Immunodeficiency with Hyper-Igm, Type 4	36
1759		IMM219	Immunodeficiency 57 with Autoinflammation	36
1760		IMM055	Immunodeficiency, Common Variable, 8, with Autoimmunity	35
1761	P	BNL002	Bone Lymphoma	35
1762	c	PNT053	Pontocerebellar Hypoplasia, Type 13	35
1763		VTM010	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2	35
1764	c	PRM163	Primary Mediastinal Large B-Cell Lymphoma	35
1765		OVL001	Ovalocytosis, Southeast Asian	35
1766	c	OST106	Osteopetrosis, Autosomal Recessive 8	34
1767	c	PNT052	Pontocerebellar Hypoplasia, Type 12	34
1768		PSD063	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	34
1769		IMM182	Immunodeficiency 31a	34
1770	c	PNT030	Pontocerebellar Hypoplasia, Type 8	34
1771		BRS001	Breast Lymphoma	34
1772	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	34
1773		AGM004	Agammaglobulinemia, Non-Bruton Type	34
1774		THR088	Thrombophilia Due to Protein S Deficiency, Autosomal Recessive	33
1775		ANM044	Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities	33
1776	c	ELL006	Elliptocytosis 3	33
1777		BRS112	Breast Implant-Associated Anaplastic Large Cell Lymphoma	33
1778		MYL060	Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement	33
1779		PRK005	Prekallikrein Deficiency	32
1780		SLC003	Selective Igm Deficiency Disease	31
1781	c	PRM374	Primary Cutaneous Gamma-Delta T-Cell Lymphoma	31
1782	c	RNL128	Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia	31
1783		CHR375	Chromosome 8p11 Myeloproliferative Syndrome	31
1784	c	TRN009	Transient Hypogammaglobulinemia of Infancy	31
1785	c	PNT059	Pontocerebellar Hypoplasia, Type 16	31
1786		IMM237	Immunodeficiency 78 with Autoimmunity and Developmental Delay	31
1787		RFR002	Refractory Hairy Cell Leukemia	30
1788		THR101	Thrombocytopenia, Paris-Trousseau Type	30
1789	c	PNT046	Pontocerebellar Hypoplasia, Type 5	30
1790	P	TRN016	Transient Hypogammaglobulinemia	29
1791	c	PNT056	Pontocerebellar Hypoplasia, Type 15	29
1792		DND018	Dendritic Cell Tumor	29
1793		MDS019	Mediastinal Malignant Lymphoma	29
1794		CLN005	Colon Lymphoma	29
1795	c	EYL003	Eye Lymphoma	28
1796		MLT037	Multifocal Lymphangioendotheliomatosis with Thrombocytopenia	28
1797		AML051	Aml with Myelodysplasia-Related Features	28
1798	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	28
1799		LVR006	Liver Lymphoma	28
1800		FCL083	Ficolin 3 Deficiency	28
1801		TCL012	T-Cell/histiocyte Rich Large B Cell Lymphoma	28
1802	P	HYP821	Hypermanganesemia with Dystonia	27
1803		WRF006	Warfarin Sensitivity, X-Linked	27
1804		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	27
1805	c	CNG020	Congenital Hypogammaglobulinemia	27
1806		IMM118	Immunodeficiency 42	27
1807		RFR004	Refractory Hematologic Cancer	27
1808		PRM127	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type	27
1809		TFR002	Tafro Syndrome	26
1810	c	PNT055	Pontocerebellar Hypoplasia, Type 14	26
1811		CMD005	Cimdag Syndrome	26
1812		IMM053	Immunotactoid Glomerulopathy	25
1813		TMP008	Tempi Syndrome	25
1814		MLY011	Maleylacetoacetate Isomerase Deficiency	25
1815		HRD160	Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors	25
1816		GST106	Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets	24
1817		IMM079	Immunodeficiency, Common Variable, 11	24
1818		CNG530	Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	24
1819		INF173	Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy	24
1820		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	24
1821		GLL013	Gallbladder Lymphoma	23
1822	c	PRM301	Primary Cutaneous T-Cell Lymphoma	23
1823		MCD005	Mcd Diffuse Large B-Cell Lymphoma	23
1824		STR014	Sternum Lymphoma	22
1825	c	OST171	Osteopetrosis, Autosomal Dominant 3	22
1826		BLC020	Bile Acid Conjugation Defect 1	22
1827	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	22
1828		CRT060	Cor Triatriatum Sinister	22
1829	c	PTN012	Patent Ductus Arteriosus 3	22
1830		IMM226	Immunodeficiency 69	22
1831	c	PTN013	Patent Ductus Arteriosus 2	22
1832	c	MXD057	Mixed Phenotype Acute Leukemia, B/myeloid	22
1833		PRM128	Primary Cutaneous Follicle Center Lymphoma	21
1834		PRM314	Primary Cutaneous Lymphoma	21
1835	c	PNT058	Pontocerebellar Hypoplasia, Type 1f	21
1836	c	PNT060	Pontocerebellar Hypoplasia, Type 17	21
1837		IND009	Indeterminate Cell Histiocytosis	21
1838		EZB001	Ezb Diffuse Large B-Cell Lymphoma	21
1839		DFF029	Diffuse Large B-Cell Lymphoma of the Central Nervous System	21
1840	c	MYS019	Miyoshi Muscular Dystrophy 2	21
1841		GNT023	Gnathostoma Infection	20
1842	c	PSR022	Psoriasis 15, Pustular	20
1843		ACT270	Acute Myeloid Leukemia with Mll Rearrangement	20
1844	c	PRM151	Primary Bone Lymphoma	20
1845		PRM133	Primary Pulmonary Lymphoma	19
1846		RCT002	Rectum Lymphoma	19
1847		PRM129	Primary Cutaneous Marginal Zone B-Cell Lymphoma	19
1848		ALN003	Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus	18
1849		SVR074	Severe Combined Immunodeficiency Due to Ikk2 Deficiency	18
1850		IMM204	Immuno-Osseous Dysplasia	18
1851		THY006	Thymus Lymphoma	18
1852	P	SCK020	Sickle Cell - Hemoglobin D Disease	17
1853	P	DST108	Distal Renal Tubular Acidosis with Hemolytic Anemia	16
1854		PRM250	Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified	16
1855	c	WSK004	Wiskott-Aldrich Syndrome, Autosomal Dominant	16
1856	c	BLY013	B-Lymphoblastic Leukemia/lymphoma with T	15
1857		CCM002	Cecum Lymphoma	15
1858	c	CLC009	Clcn7-Related Osteopetrosis	14
1859	c	ANP011	Anaplastic Small Cell Lymphoma	14
1860		INF188	Inferior Vena Cava Interruption Without Azygos Continuation	14
1861		BLY011	B-Lymphoblastic Leukemia/lymphoma with Recurrent Genetic Abnormality	13
1862		SYS063	Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood	13
1863		PRM132	Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma	13
1864		WRT007	Warts-Immunodeficiency-Lymphedema-Anogenital Dysplasia Syndrome	13
1865		SCN050	Secondary Non-Traumatic Avascular Necrosis	13
1866		MLT143	Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	13
1867		INF175	Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome	12
1868	P	ACT262	Acute Myeloid Leukemia with Inv(16)(p13.1q22) or T(16;16)(p13.1;q22)	12
1869		CNG352	Congenital Stenosis of the Inferior Vena Cava	11
1870		MGK005	Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13)	10
1871		ACT199	Acute Myeloid Leukemia with Npm1 Somatic Mutations	8
1872		THR043	Thrombomodulin Anomalies, Familial	8
1873	c	PRM130	Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma	7
1874	c	BLY014	B-Lymphoblastic Leukemia/lymphoma with T(12;21)(p13.2;q22.1)	7
1875		NNT060	Neonatal-Onset Severe Multisystemic Autoinflammatory Disease with Increased Il18	7
1876		EZB002	Ezb-Myc+ Diffuse Large B-Cell Lymphoma	7
1877		ANS007	Anus Lymphoma	7
1878		PRM144	Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease	7
1879	c	BLY016	B-Lymphoblastic Leukemia/lymphoma with T(5;14)(q31.1;q32.3)	6
1880		PRG005	Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma	6
1881		RFR016	Refractory T Lymphoblastic Leukemia/lymphoma	6
1882		BLY007	B-Lymphoblastic Leukemia/lymphoma with Il3-Igh	6
1883		MYL083	Myeloid/lymphoid Neoplasm Associated with Jak2 Rearrangement	6
1884		ACT273	Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or	6
1885	c	AGG009	Aggressive Primary Cutaneous B-Cell Lymphoma	5
1886		MXD056	Mixed Phenotype Acute Leukemia with Mll Rearranged	5
1887	c	TCL008	T-Cell Lymphoma 1a	4
1888		DNR008	Dna Repair Defect Other Than Combined T-Cell and B-Cell Immunodeficiencies	4
1889		MYL082	Myeloid/lymphoid Neoplasms Associated with Eosinophilia and Abnormality of Pdgfra, Pdgfrb, Fgfr1 or Jak2	4
1890		PRM326	Primary Immunodeficiency with Predisposition to Severe Viral Infection	3
1891		RRT004	Rare Thrombotic Disease of Hematologic Origin	3
1892	P	LFT003	Left Ventricular Noncompaction	55
1893	c	LFT017	Left Ventricular Noncompaction 8	29
1894	c	LFT021	Left Ventricular Noncompaction 1	29
1895	c	LFT018	Left Ventricular Noncompaction 10	28
1896	c	LFT020	Left Ventricular Noncompaction 7	20
1897	c	LFT011	Left Ventricular Noncompaction 2	19
1898	P	DMN001	Diamond-Blackfan Anemia	74
1899		LYM143	Lymphoma, Non-Hodgkin, Familial	74
1900	c	EXD008	Exudative Vitreoretinopathy 1	72
1901	P	BRL012	Bare Lymphocyte Syndrome, Type Ii	69
1902		CHD001	Chediak-Higashi Syndrome	69
1903	c	PRD013	Periodic Fever, Familial, Autosomal Dominant	68
1904	P	LYM113	Lymphoproliferative Syndrome, X-Linked, 1	67
1905		MNT001	Mantle Cell Lymphoma	67
1906		BLM001	Bloom Syndrome	66
1907	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	66
1908		MYL031	Myeloproliferative Neoplasm	65
1909	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	65
1910	c	DMN023	Diamond-Blackfan Anemia 1	64
1911		MCK007	Muckle-Wells Syndrome	64
1912		HMT002	Hematologic Cancer	64
1913	P	PRT008	Proteus Syndrome	63
1914		GT001	Gout	63
1915		HYD038	Hydrops Fetalis, Nonimmune	62
1916	P	KDN017	Kidney Cancer	62
1917		BTT017	Beta-Thalassemia Major	61
1918		TRN015	Transient Cerebral Ischemia	61
1919		SZR001	Sezary's Disease	61
1920		FCT006	Factor V Deficiency	60
1921		IMM078	Immunodeficiency 21	59
1922	P	PLY011	Polycystic Ovary Syndrome	59
1923		VLV047	Volvulus of Midgut	59
1924		CRT002	Cartilage-Hair Hypoplasia	59
1925		ACT098	Acute Erythroid Leukemia	59
1926	c	AMG001	Amegakaryocytic Thrombocytopenia, Congenital	59
1927	P	ERY008	Erythromelalgia	58
1928	c	ERY058	Erythrocytosis, Familial, 1	58
1929		SVR010	Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation	58
1930		ALP095	Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	57
1931		CD4003	Cd40 Ligand Deficiency	56
1932		CPL003	Capillary Leak Syndrome	55
1933		VCS001	Vici Syndrome	55
1934	P	HYP050	Hyperinsulinemic Hypoglycemia	55
1935	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	55
1936		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	54
1937		LYM040	Lymphoblastic Lymphoma	53
1938	c	BRL011	Bare Lymphocyte Syndrome, Type I	53
1939	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	53
1940		PRT129	Prothrombin Deficiency, Congenital	53
1941		URC002	Urea Cycle Disorder	52
1942	P	PLG001	Pelger-Huet Anomaly	52
1943		IMM065	Immunodeficiency 10	52
1944	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	52
1945	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	51
1946		PLM041	Pulmonary Valve Stenosis	51
1947		HPT070	Hepatosplenic T-Cell Lymphoma	51
1948	c	FML253	Familial Cold Autoinflammatory Syndrome 3	51
1949	c	FNC032	Fanconi Anemia, Complementation Group B	50
1950		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	50
1951		IMM105	Immunodeficiency with Hyper-Igm, Type 3	50
1952	P	HMG032	Hemoglobin H Disease	49
1953		EVN001	Evans' Syndrome	49
1954	P	PRN026	Porencephaly	49
1955		LYM012	Lymphoplasmacytic Lymphoma	49
1956		PLS025	Plasmablastic Lymphoma	48
1957		AGG012	Aggressive Nk-Cell Leukemia	48
1958		VTM002	Vitamin B12 Deficiency	48
1959		TRN022	Transcobalamin Ii Deficiency	48
1960		CMP004	Complement Factor I Deficiency	48
1961		MTH089	Methylmalonic Aciduria and Homocystinuria, Cblx Type	48
1962		SCT005	Scott Syndrome	47
1963	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	46
1964		IMM104	Immunodeficiency with Hyper-Igm, Type 2	46
1965		HNN001	Hennekam Syndrome	46
1966		CHL152	Childhood Acute Lymphocytic Leukemia	45
1967		RCH001	Richter's Syndrome	45
1968		HPT077	Hepatic Venoocclusive Disease with Immunodeficiency	45
1969		IMM066	Immunodeficiency 9	44
1970		BNM001	Bone Marrow Cancer	44
1971		FSR001	Fusariosis	44
1972		DCK002	Dock8 Immunodeficiency Syndrome	44
1973		ADR051	Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency	44
1974	c	PLY105	Polycystic Ovary Syndrome 1	43
1975		HML058	Hemolytic Disease of Fetus and Newborn, Rh-Induced	43
1976		LYM094	Lymphedema, Primary, with Myelodysplasia	43
1977		BCL002	B Cell Deficiency	42
1978		CMP001	Composite Lymphoma	40
1979		VTM009	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1	40
1980	P	GLY112	Glycosylphosphatidylinositol Biosynthesis Defect 1	39
1981		HMC038	Hemochromatosis, Neonatal	39
1982		TWN001	Twin-to-Twin Transfusion Syndrome	39
1983		GST020	Gastric Antral Vascular Ectasia	39
1984		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	39
1985		ERY061	Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige	38
1986		IMM143	Immunodeficiency 48	37
1987		EXT007	Extracutaneous Mastocytoma	37
1988		CNG016	Congenital Intrinsic Factor Deficiency	37
1989		HDG001	Hodgkin's Lymphoma, Nodular Sclerosis	36
1990	P	BCL013	B-Cell Adult Acute Lymphocytic Leukemia	36
1991		ANR009	Aneurysmal Bone Cysts	35
1992		CMP042	Complement Factor H Deficiency	35
1993		TNP004	Tn Polyagglutination Syndrome	35
1994		CRB001	Cerebral Lymphoma	35
1995		GLY111	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib	35
1996		MTR008	Mature B-Cell Neoplasm	34
1997	c	CHL157	Childhood B-Cell Acute Lymphoblastic Leukemia	34
1998		IMM234	Immunodeficiency 26	32
1999		IMM135	Immunodeficiency 46	32
2000		RFM002	Roifman-Chitayat Syndrome	32
2001	P	NNT042	Neonatal Lupus Erythematosus	32
2002	c	FML084	Familial Porencephaly	30
2003	P	FML156	Familial Hyperaldosteronism	30
2004	P	HRD214	Hereditary Periodic Fever Syndrome	30
2005	c	PRT063	Proteus-Like Syndrome	30
2006	c	ALP087	Alpha-Heavy Chain Disease	29
2007		OMS001	Omsk Hemorrhagic Fever	29
2008	c	GLY103	Glycosylphosphatidylinositol Biosynthesis Defect 15	28
2009	c	NNT025	Neonatal Systemic Lupus Erythematosus	28
2010		CNT010	Central Nervous System Hematologic Cancer	28
2011		CHS005	Chest Wall Lymphoma	27
2012	c	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	27
2013		IMM150	Immunodeficiency 52	27
2014		MYL059	Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1	27
2015		BLD028	Bladder Lymphoma	26
2016		SPN026	Spinal Cord Lymphoma	26
2017		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	26
2018	P	BLY002	B-Lymphoblastic Leukemia/lymphoma with Bcr-Abl1	25
2019		MCR309	Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia	25
2020	c	ACT259	Acute Myeloid Leukemia with T(6;9) (p23;q34.1)	24
2021		BLY010	B-Lymphoblastic Leukemia/lymphoma with Iamp21	24
2022		CMP041	Complement Factor D Deficiency	24
2023		CTR107	Cataract 13 with Adult I Phenotype	24
2024	c	IDP012	Idiopathic Acute Eosinophilic Pneumonia	23
2025	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	23
2026		BLY006	B-Lymphoblastic Leukemia/lymphoma with Hypodiploidy	23
2027		LCH010	Lichtenstein Syndrome	22
2028		BLY005	B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy	22
2029	c	MNS019	Monosomy 7 Myelodysplasia and Leukemia Syndrome 2	22
2030	c	ACT195	Acute Myeloid Leukemia with T(9;11)(p22;q23)	22
2031	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	22
2032		TRC018	Tracheal Lymphoma	21
2033		BLY004	B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1	20
2034		SKL031	Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	19
2035		HRM026	Hermansky-Pudlak Syndrome Due to Bloc-2 Deficiency	18
2036		CBP002	Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome	18
2037		HRM025	Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency	18
2038	c	GLY116	Glycosylphosphatidylinositol Biosynthesis Defect 25	18
2039		PRM131	Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma	15
2040	c	SCN066	Secondary Erythromelalgia	14
2041		MYL018	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	13
2042		BLY017	B-Lymphoblastic Leukemia/lymphoma Mll Rearranged	13
2043	P	IDP090	Idiopathic Eosinophilic Pneumonia	12
2044	c	PSD024	Pseudo Pelger-Huet Anomaly	11
2045	c	ACQ029	Acquired Porencephaly	9
2046		HRM024	Hermansky-Pudlak Syndrome Due to Ap-3 Deficiency	8
2047	c	KDN012	Kidney Carcinoma in Situ	7
2048	c	FNC027	Fanconi Anemia, Complementation Group a	80
2049	c	CRD086	Cardiomyopathy, Familial Hypertrophic, 1	73
2050	P	HYP061	Hypertrophic Cardiomyopathy	69
2051	P	DYS007	Dyskeratosis Congenita	69
2052	P	FLL037	Follicular Lymphoma	69
2053	c	FML021	Familial Hypercholesterolemia	69
2054		ACR006	Aceruloplasminemia	69
2055		LYM129	Lymphoma, Mucosa-Associated Lymphoid Type	68
2056		BRK010	Burkitt Lymphoma	67
2057		SVR066	Severe Combined Immunodeficiency, X-Linked	66
2058	P	MST009	Mastocytosis	66
2059	P	LYM118	Lymphoma	65
2060	P	LKM002	Leukemia	65
2061		NTH001	Netherton Syndrome	62
2062		HNC001	Henoch-Schoenlein Purpura	61
2063		ACQ007	Acquired Immunodeficiency Syndrome	60
2064		DBT084	Diabetes Mellitus, Ketosis-Prone	60
2065		CHR081	Choroideremia	59
2066	P	WHM002	Whim Syndrome 1	59
2067	P	EPD083	Epidermodysplasia Verruciformis 1	58
2068	P	CTS001	Cutis Laxa	57
2069	c	PSD122	Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	57
2070	c	CTS045	Cutis Laxa, Autosomal Dominant 1	57
2071		IMM246	Immunoglobulin Light Chain Amyloidosis	57
2072		IMM240	Immunodeficiency 14a, Autosomal Dominant	55
2073		CSP005	Caspase 8 Deficiency	55
2074		HYP732	Hyperalphalipoproteinemia 1	55
2075		PRN011	Pernicious Anemia	54
2076		DHY016	Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema	54
2077	P	HML001	Hemolytic-Uremic Syndrome	53
2078		TCL027	T-Cell Acute Lymphoblastic Leukemia	52
2079		ADL104	Adult T-Cell Leukemia/lymphoma	52
2080	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	52
2081		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	52
2082		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	51
2083		IMM064	Immunodeficiency, Common Variable, 10	51
2084	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	50
2085	c	CRD236	Cardiomyopathy, Familial Hypertrophic, 25	50
2086	c	CRD085	Cardiomyopathy, Familial Hypertrophic, 4	49
2087		SPL004	Splenic Marginal Zone Lymphoma	48
2088	P	RTN014	Retinal Artery Occlusion	48
2089	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	48
2090	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	48
2091		DFN384	Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia	48
2092	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	47
2093	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	47
2094		GLC036	Glucagonoma	47
2095	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	47
2096	c	PSD092	Pseudohypoaldosteronism, Type Iie	47
2097	c	ATS393	Autosomal Recessive Cutis Laxa Type I	46
2098	P	PSD003	Pseudohypoaldosteronism	46
2099	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	46
2100	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	46
2101	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	45
2102	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	45
2103	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	45
2104	P	KRN004	Kernicterus	44
2105	c	CRD232	Cardiomyopathy, Familial Hypertrophic, 6	44
2106		IMM177	Immunodeficiency 54	44
2107		GST027	Gastric Lymphoma	43
2108		PLT019	Platelet Disorder, Familial, with Associated Myeloid Malignancy	43
2109	c	CNT028	Central Retinal Artery Occlusion	43
2110		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	43
2111	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	43
2112		TCL023	T-Cell Lymphoma, Subcutaneous Panniculitis-Like	43
2113		ASP026	Asplenia, Isolated Congenital	43
2114		MYH015	Myh-9 Related Disease	42
2115	c	CTS041	Cutis Laxa, Autosomal Dominant 3	42
2116	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	42
2117		CMB022	Combined Cellular and Humoral Immune Defects with Granulomas	42
2118	c	CRD147	Cardiomyopathy, Familial Hypertrophic, 20	41
2119	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	41
2120	c	CRD222	Cardiomyopathy, Familial Hypertrophic, 26	41
2121		OST167	Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis	41
2122		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	40
2123		AMD002	Amed Syndrome, Digenic	40
2124		DRG026	Drug Reaction with Eosinophilia and Systemic Symptoms	40
2125		WGN007	Wagner Vitreoretinopathy	39
2126	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	39
2127	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	39
2128		MJD001	Majeed Syndrome	39
2129	c	CRD087	Cardiomyopathy, Familial Hypertrophic, 10	39
2130		IMM274	Immunodeficiency 103 Fungal Infections	39
2131	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	39
2132		ESN015	Eosinophilic Fasciitis	38
2133		SRC015	Sarcosinemia	38
2134		IMM077	Immunodeficiency 20	38
2135	c	CRD079	Cardiomyopathy, Familial Hypertrophic, 9	38
2136	c	CRD065	Cardiomyopathy, Familial Hypertrophic, 2	37
2137	c	CRD081	Cardiomyopathy, Familial Hypertrophic, 12	37
2138	c	CRD058	Cardiomyopathy, Familial Hypertrophic, 3	37
2139	c	CRD219	Cardiomyopathy, Infantile Hypertrophic	36
2140	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	36
2141	c	PSD080	Pseudohypoaldosteronism Type 1	36
2142		CTS011	Cutis Marmorata Telangiectatica Congenita	35
2143	c	ATP003	Atp6v0a2-Related Cutis Laxa	35
2144		GST014	Gastrointestinal Lymphoma	35
2145	c	CTS031	Cutis Laxa, Autosomal Dominant 2	35
2146	c	CRD056	Cardiomyopathy, Familial Hypertrophic, 11	34
2147		ENT008	Enteropathy-Associated T-Cell Lymphoma	34
2148	c	CRD148	Cardiomyopathy, Familial Hypertrophic, 16	34
2149	c	HYP600	Hyperaldosteronism, Familial, Type Ii	34
2150	c	CRD238	Cardiomyopathy, Familial Hypertrophic, 17	34
2151		SML008	Small Intestine Lymphoma	33
2152	c	CRD150	Cardiomyopathy, Familial Hypertrophic, 18	33
2153	c	PSD093	Pseudohypoaldosteronism, Type Iid	33
2154	c	CRD061	Cardiomyopathy, Familial Hypertrophic, 13	33
2155	c	FML324	Familial Porphyria Cutanea Tarda	32
2156	c	PSD090	Pseudohypoaldosteronism, Type Iia	32
2157	c	DMN005	Diamond-Blackfan Anemia 2	32
2158	c	CRD062	Cardiomyopathy, Familial Hypertrophic, 7	32
2159		RTN011	Retina Lymphoma	32
2160	c	CRD089	Cardiomyopathy, Familial Hypertrophic, 14	31
2161	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	31
2162	c	CTS048	Cutis Laxa, Autosomal Recessive, Type Iie	31
2163		CD8002	Cd8 Deficiency, Familial	31
2164	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	29
2165		IMM075	Immunodeficiency 22	29
2166		ACT234	Acute Myeloid Leukemia with Minimal Differentiation	29
2167	c	CRD088	Cardiomyopathy, Familial Hypertrophic, 8	29
2168	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	29
2169	c	FLL041	Follicular Lymphoma 1	28
2170	c	CRD083	Cardiomyopathy, Familial Hypertrophic, 15	28
2171		IMM172	Immunodeficiency 34	27
2172	c	PSD068	Pseudohypoaldosteronism, Type Iic	27
2173		OVR021	Ovarian Lymphoma	27
2174	c	PSD094	Pseudohypoaldosteronism, Type Iib	26
2175	c	CRD264	Cardiomyopathy, Familial Hypertrophic, 27	26
2176	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	25
2177	c	EPD085	Epidermodysplasia Verruciformis 3	25
2178	c	EPD084	Epidermodysplasia Verruciformis 2	23
2179	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	23
2180		PNC007	Pancreas Lymphoma	22
2181	c	TRN053	Transient Pseudohypoaldosteronism	22
2182	c	CRD251	Cardiomyopathy, Familial Hypertrophic, 28	22
2183	c	ACQ027	Acquired Cutis Laxa	20
2184	c	WHM003	Whim Syndrome 2	20
2185	c	LTB003	Ltbp4-Related Cutis Laxa	19
2186	c	EPD087	Epidermodysplasia Verruciformis 5	19
2187	c	FBL003	Fbln5-Related Cutis Laxa	18
2188	c	CRD152	Cardiomyopathy, Familial Hypertrophic, 21	18
2189	c	ELN002	Eln-Related Cutis Laxa	14
2190	c	EFM001	Efemp2-Related Cutis Laxa	13
2191	c	PSD124	Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	12
2192	c	DYS225	Dyskeratosis Congenita, Autosomal Recessive 8	11
2193	c	PSD123	Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	11
2194	c	KRN003	Kernicterus Due to Isoimmunization	8
2195	c	RRF013	Rare Familial Disorder with Hypertrophic Cardiomyopathy	7
2196	c	RRH034	Rare Hypertrophic Cardiomyopathy	7
2197	c	DPL004	D-Plus Hemolytic Uremic Syndrome	4
2198		DVL133	Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome	4
2199		EHR002	Ehrlichiosis	38
2200	P	CLR023	Colorectal Cancer	100
2201	P	FML018	Familial Mediterranean Fever	75
2202		ABT001	Abetalipoproteinemia	69
2203	c	WLM013	Wilms Tumor 1	68
2204		OMN001	Omenn Syndrome	67
2205	c	PSD108	Pseudohypoparathyroidism, Type Ia	67
2206	c	WLM018	Wilms Tumor 5	66
2207		CHR103	Charge Syndrome	66
2208		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	60
2209		PLS011	Plasmacytoma	57
2210		PYG003	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne	57
2211	c	PSD066	Pseudohypoparathyroidism, Type Ib	56
2212		SVR096	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	55
2213		STR081	Stormorken Syndrome	55
2214	P	PSD015	Pseudohypoparathyroidism	55
2215		HRY003	Hairy Cell Leukemia	55
2216		PHS014	Phosphoglycerate Kinase 1 Deficiency	53
2217		HRP009	Herpes Simplex Encephalitis	52
2218		IMM026	Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia	51
2219	c	XNT010	Xanthinuria, Type I	50
2220		ATR002	Atransferrinemia	50
2221		CHR635	Chromosome 5q Deletion Syndrome	50
2222		PLS016	Plasma Cell Leukemia	50
2223		IMM120	Immunodeficiency 40	48
2224		TCL016	T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy	48
2225		CRY008	Cryopyrin-Associated Periodic Syndrome	48
2226	P	XNT004	Xanthinuria	47
2227		IMM275	Immunodeficiency 104	47
2228		3HY007	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	46
2229	c	BLC008	Bile Acid Synthesis Defect, Congenital, 2	45
2230	c	FML053	Familial Colorectal Cancer	45
2231		IRN004	Iron-Refractory Iron Deficiency Anemia	45
2232	P	BCL021	B-Cell Prolymphocytic Leukemia	44
2233		IMM071	Immunodeficiency 12	43
2234	c	BLC007	Bile Acid Synthesis Defect, Congenital, 1	41
2235	c	BLC011	Bile Acid Synthesis Defect, Congenital, 3	41
2236	c	XNT011	Xanthinuria, Type Ii	40
2237		IMM190	Immunodeficiency 55	39
2238	c	PSD117	Pseudohypoparathyroidism, Type Ic	38
2239		RFM001	Roifman Syndrome	37
2240	c	CNG002	Congenital Bile Acid Synthesis Defect	37
2241		ALP094	Alpha Thalassemia-Intellectual Disability Syndrome Type 1	36
2242	c	BLC009	Bile Acid Synthesis Defect, Congenital, 4	36
2243		IMM257	Immunodeficiency 7	36
2244	c	BLC016	Bile Acid Synthesis Defect, Congenital, 5	35
2245	c	CLR077	Colorectal Cancer 10	34
2246	c	CLR087	Colorectal Cancer 12	34
2247	c	CLR085	Colorectal Cancer 1	33
2248	c	FML311	Familial Colorectal Cancer Type X	32
2249		STM015	Stomatin-Deficient Cryohydrocytosis with Neurologic Defects	31
2250	c	CLR075	Colorectal Cancer 3	31
2251	P	HRD009	Hereditary Wilms' Tumor	29
2252	c	PSD104	Pseudohypoparathyroidism, Type Ii	29
2253	c	WLM011	Wilms Tumor 6	27
2254	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	26
2255	c	WLM005	Wilms Tumor 2	26
2256	c	BLC018	Bile Acid Synthesis Defect, Congenital, 6	23
2257	c	WLM017	Wilms Tumor 4	21
2258	c	CLR079	Colorectal Cancer 2	21
2259	c	CLR080	Colorectal Cancer 5	20
2260	c	CLR083	Colorectal Cancer 8	19
2261	P	DSR081	Disorder of Bile Acid Synthesis	19
2262	c	WLM015	Wilms Tumor 3	19
2263		AGM003	Agammaglobulinemia, Microcephaly, and Severe Dermatitis	19
2264		HRM027	Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency	19
2265	c	CLR082	Colorectal Cancer 7	18
2266	c	CLR081	Colorectal Cancer 6	17
2267		IMM129	Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis	16
2268	c	CLR078	Colorectal Cancer 11	16
2269	c	CLR084	Colorectal Cancer 9	16
2270	c	FML094	Familial Wilms Tumor 2	15
2271		PRM142	Primary Oculocerebral Lymphoma	11
2272		PPL049	Papillon-Lefevre Syndrome	70
2273		MYC006	Mycosis Fungoides	65
2274		RNL024	Renal Glucosuria	60
2275		LG4001	Lig4 Syndrome	57
2276		LKC005	Leukocyte Adhesion Deficiency, Type Iii	55
2277	c	GRS014	Griscelli Syndrome, Type 2	53
2278		FLT011	Felty Syndrome	53
2279	P	PRV002	Periventricular Nodular Heterotopia	52
2280		GLT007	Glutathione Synthetase Deficiency	51
2281		ACT095	Acute Biphenotypic Leukemia	50
2282	c	GRS013	Griscelli Syndrome, Type 1	48
2283	c	PRV019	Periventricular Nodular Heterotopia 1	42
2284		CRD017	Cardiac Valvular Dysplasia, X-Linked	42
2285	c	GRS012	Griscelli Syndrome, Type 3	40
2286		ECT108	Ectodermal Dysplasia and Immunodeficiency 1	39
2287		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	35
2288		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	32
2289		LGH004	Light Chain Deposition Disease	30
2290		HYP643	Hypohidrotic Ectodermal Dysplasia with Immunodeficiency	28
2291	c	PRV018	Periventricular Nodular Heterotopia 7	27
2292	c	PRV022	Periventricular Nodular Heterotopia 9	26
2293		WTL002	Wt Limb-Blood Syndrome	25
2294	c	PRV021	Periventricular Nodular Heterotopia 8	22
2295	c	PRV016	Periventricular Nodular Heterotopia 6	22
2296	c	PRV013	Periventricular Nodular Heterotopia 3	13
2297	P	NJM001	Nijmegen Breakage Syndrome	73
2298		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	67
2299		CNC002	Cinca Syndrome	66
2300		MST024	Mastocytosis, Cutaneous	65
2301		SCH016	Schimke Immunoosseous Dysplasia	61
2302		IMM122	Immunodeficiency 41 with Lymphoproliferation and Autoimmunity	56
2303		INT054	Intraocular Lymphoma	49
2304		ADR052	Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency	47
2305		VSC050	Vascular Malformation, Primary Intraosseous	34
2306		LKC009	Leukocyte Adhesion Deficiency, Type I	71
2307		IMM179	Immunodeficiency 31c	46
2308		CHR003	Cherubism	58