Rare Diseases Category (12863 diseases)

Including: rare
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		RRN002	Rare Intellectual Disability Without Developmental Anomaly	8
2	P	LCH002	Lichen Planus	58
3	c	LCH017	Lichen Planus, Familial	12
4	c	RRL001	Rare Lichen Planus	6
5		LPD016	Lipoid Proteinosis of Urbach and Wiethe	66
6		PST049	Postaxial Acrofacial Dysostosis	45
7		HTC003	Hutchinson-Gilford Progeria Syndrome	65
8		ALS001	Alstrom Syndrome	57
9	P	STS008	Sotos Syndrome 1	54
10	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	45
11	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	30
12	c	STS007	Sotos Syndrome 2	28
13	c	XLN227	X-Linked Chondrodysplasia Punctata 1	20
14	c	XLN229	X-Linked Chondrodysplasia Punctata 2	20
15	c	STS009	Sotos Syndrome 3	19
16	P	MSC007	Muscle Hypertrophy	64
17		KRT019	Keratitis, Hereditary	61
18		FDB001	Foodborne Botulism	53
19	c	FBR084	Fibromatosis, Gingival, 1	53
20		FCT005	Factor Xiii Deficiency	53
21	P	ADM011	Adams-Oliver Syndrome	52
22	P	GNG025	Gingival Fibromatosis	50
23		DBW001	Dubowitz Syndrome	46
24		WDM005	Wiedemann-Rautenstrauch Syndrome	44
25	c	JBR024	Joubert Syndrome 14	43
26	c	JBR015	Joubert Syndrome 6	42
27	c	JBR004	Joubert Syndrome 2	40
28		ACR041	Acromelic Frontonasal Dysostosis	40
29		VRT007	Vertical Talus, Congenital	36
30		FMR018	Femoral-Facial Syndrome	35
31	c	JBR025	Joubert Syndrome 17	35
32	c	JBR041	Joubert Syndrome 3	34
33	P	OMD003	Omodysplasia	34
34		DSM002	Desmosterolosis	34
35	P	PRK101	Parkinsonism-Dystonia, Infantile, 1	33
36	c	JBR012	Joubert Syndrome 5	32
37	c	JBR022	Joubert Syndrome 20	32
38		MCP039	Mucoepithelial Dysplasia, Hereditary	30
39	c	JBR014	Joubert Syndrome 9	29
40	c	ADM007	Adams-Oliver Syndrome 2	29
41		KPP002	Keppen-Lubinsky Syndrome	28
42		NBL001	Nablus Mask-Like Facial Syndrome	28
43	c	JBR026	Joubert Syndrome 15	28
44	c	JBR016	Joubert Syndrome 10	27
45	c	JBR031	Joubert Syndrome 21	27
46	c	JBR013	Joubert Syndrome 8	26
47	c	JBR018	Joubert Syndrome 4	26
48	c	JBR011	Joubert Syndrome 7	26
49	c	OMD002	Omodysplasia 2	25
50	c	JBR042	Joubert Syndrome 23	25
51	c	JBR030	Joubert Syndrome 22	25
52	c	JBR037	Joubert Syndrome 26	25
53	c	FBR079	Fibromatosis, Gingival, 2	24
54	c	JBR035	Joubert Syndrome 24	23
55	c	JBR039	Joubert Syndrome 28	23
56		GLT014	Glutathionuria	23
57	c	PRK102	Parkinsonism-Dystonia, Infantile, 2	23
58	c	JBR021	Joubert Syndrome 18	23
59	c	JBR027	Joubert Syndrome 16	22
60	c	JBR047	Joubert Syndrome 35	22
61	c	JBR040	Joubert Syndrome 30	22
62	c	ADM008	Adams-Oliver Syndrome 3	22
63	c	JBR043	Joubert Syndrome 32	22
64	c	JBR028	Joubert Syndrome 13	22
65	c	JBR045	Joubert Syndrome 33	21
66	c	JBR036	Joubert Syndrome 25	21
67	c	JBR044	Joubert Syndrome 31	21
68	c	JBR038	Joubert Syndrome 27	20
69		RRS002	Rare Isolated Myopia	20
70	c	MYS010	Myostatin-Related Muscle Hypertrophy	18
71		FRG013	Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)	17
72	c	FBR077	Fibromatosis, Gingival, 3	17
73	c	FBR092	Fibromatosis, Gingival, 5	16
74	c	FBR080	Fibromatosis, Gingival, 4	15
75		RRD006	Rare Idiopathic Male Infertility	4
76	P	PRS040	Prostate Cancer	93
77	c	SYS001	Systemic Lupus Erythematosus	88
78		MYL069	Myeloma, Multiple	85
79	P	ATX030	Ataxia-Telangiectasia	82
80		CYS001	Cystic Fibrosis	82
81		ESP021	Esophageal Cancer	82
82		SQM013	Squamous Cell Carcinoma, Head and Neck	82
83	c	LKM061	Leukemia, Acute Myeloid	81
84	P	FNC027	Fanconi Anemia, Complementation Group a	81
85		PFF001	Pfeiffer Syndrome	80
86		NRL016	Neural Tube Defects	79
87	P	NNN008	Noonan Syndrome 1	78
88	P	PLM037	Pulmonary Hypertension	77
89		KPS004	Kaposi Sarcoma	77
90	P	SRC025	Sarcoidosis 1	76
91	P	PRK057	Parkinson Disease, Late-Onset	76
92		PLY001	Polycythemia Vera	75
93	P	NRF023	Neurofibromatosis, Type Ii	75
94	P	MLT020	Multiple Sclerosis	75
95		MRF001	Marfan Syndrome	75
96		BHC003	Behcet Syndrome	74
97	c	HMC039	Hemochromatosis, Type 1	74
98		PHN003	Phenylketonuria	74
99		NRF026	Neurofibromatosis, Type Iv, of Riccardi	74
100		APL001	Aplastic Anemia	74
101	P	MYS003	Myasthenia Gravis	73
102	c	LKM063	Leukemia, Chronic Myeloid	73
103	P	DBT085	Diabetes Mellitus, Insulin-Dependent	73
104		IMM106	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked	72
105	c	HPT073	Hepatitis C Virus	72
106		VNH007	Von Hippel-Lindau Syndrome	72
107		CHG001	Chagas Disease	72
108	c	ATM006	Autoimmune Lymphoproliferative Syndrome	72
109		ADR007	Adrenoleukodystrophy	71
110	P	HRP006	Herpes Simplex	71
111		KWS002	Kawasaki Disease	71
112	P	TRN020	Turner Syndrome	71
113	P	AGM001	Agammaglobulinemia	71
114		FBR012	Fabry Disease	71
115		BRC012	Brucellosis	70
116	P	ALG028	Alagille Syndrome 1	70
117	P	DMN001	Diamond-Blackfan Anemia	70
118	P	SPR120	Supranuclear Palsy, Progressive, 1	70
119	c	HPT016	Hepatitis B	70
120		MYL009	Myelodysplastic Syndrome	70
121	c	CRB175	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1	69
122	P	LPS004	Lupus Erythematosus	69
123	P	TMP003	Temporal Arteritis	69
124		MYL005	Myelofibrosis	69
125		BRK010	Burkitt Lymphoma	69
126		APR006	Apert Syndrome	69
127	P	TYS001	Tay-Sachs Disease	69
128	c	HPT001	Hepatitis C	69
129	P	WLD002	Waldenstrom Macroglobulinemia	69
130	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	69
131	P	FRG001	Fragile X Syndrome	69
132		GRN037	Granulomatosis with Polyangiitis	69
133	P	ORT004	Orthostatic Intolerance	69
134		LSH001	Leishmaniasis	69
135	P	LKM062	Leukemia, Acute Lymphoblastic	68
136	P	ALC004	Alcohol Abuse	68
137		SMT004	Smith-Lemli-Opitz Syndrome	68
138	P	PSD087	Pseudoxanthoma Elasticum	68
139	c	ATS007	Autism Spectrum Disorder	67
140	P	HYD006	Hydrocephalus	67
141	P	SYS005	Systemic Scleroderma	67
142	P	KRB001	Krabbe Disease	67
143	P	HYP098	Hypereosinophilic Syndrome	67
144		TYP007	Typhoid Fever	67
145	P	ATS364	Autism	67
146	P	DYS007	Dyskeratosis Congenita	67
147		DMN031	Dementia, Lewy Body	67
148	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
149	c	FML346	Familial Adenomatous Polyposis 1	67
150	P	ASP006	Aspergillosis	66
151	c	TBR026	Tuberous Sclerosis 2	66
152		LWC002	Lowe Oculocerebrorenal Syndrome	66
153	P	LYN001	Lynch Syndrome	66
154	c	MCP050	Mucopolysaccharidosis, Type Ii	66
155	P	PRD008	Periodontitis	66
156		TKY002	Takayasu Arteritis	66
157	P	GCH001	Gaucher's Disease	66
158	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	66
159	c	CHR417	Chronic Graft Versus Host Disease	66
160	c	GLY008	Glycogen Storage Disease Ii	66
161	P	KBK002	Kabuki Syndrome 1	66
162	P	ALP009	Alopecia Areata	66
163	P	LNG028	Long Qt Syndrome	66
164	P	SPN046	Spinal Muscular Atrophy	66
165		INC021	Incontinentia Pigmenti	66
166		ADL030	Adult-Onset Still's Disease	65
167	c	NNN010	Noonan Syndrome 3	65
168	P	CCK001	Cockayne Syndrome	65
169	c	GCH015	Gaucher Disease, Type I	65
170		YLL002	Yellow Fever	65
171		STH001	Saethre-Chotzen Syndrome	65
172		MSL001	Measles	65
173		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	65
174	P	THL005	Thalassemia	65
175	P	MYP004	Myopathy	64
176	c	MCL062	Mucolipidosis Ii Alpha/beta	64
177	P	NRM001	Neuromyelitis Optica	64
178		NRR002	Norrie Disease	64
179	P	HML033	Hemolytic Uremic Syndrome, Atypical 1	64
180	P	AMY004	Amyloidosis	64
181	c	LNG044	Long Qt Syndrome 1	64
182		CST001	Costello Syndrome	64
183		ACN002	Acanthosis Nigricans	64
184	P	CRD224	Cardiofaciocutaneous Syndrome 1	64
185		CRB011	Cerebrotendinous Xanthomatosis	64
186	P	BLD062	Bile Duct Cancer	64
187	c	CNG411	Congenital Disorder of Glycosylation, Type in	64
188	c	MCP049	Mucopolysaccharidosis, Type Vii	64
189	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	64
190	P	LPR021	Leprosy 3	63
191	c	ART101	Aortic Valve Disease 2	63
192		WLL001	Williams-Beuren Syndrome	63
193		INC002	Inclusion Body Myositis	63
194	P	CRB048	Cerebral Cavernous Malformations	63
195		SCR008	Scrub Typhus	63
196		LNG108	Langerhans Cell Histiocytosis	63
197	P	SHW006	Shwachman-Diamond Syndrome 1	63
198		QFV001	Q Fever	63
199	P	CRD132	Cardiac Conduction Defect	63
200		TNG002	Tangier Disease	63
201		PRP083	Porphyria, Acute Intermittent	63
202	P	CRN015	Cornelia De Lange Syndrome	63
203	P	OVR049	Ovarian Disease	63
204	c	ACT074	Acute Lymphocytic Leukemia	63
205	c	MNN047	Mannosidosis, Alpha B, Lysosomal	63
206		PMS001	Poems Syndrome	62
207	c	ADL017	Adult T-Cell Leukemia	62
208		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	62
209		LSC001	Lesch-Nyhan Syndrome	62
210		SDD001	Sudden Infant Death Syndrome	62
211		KRT001	Keratoconjunctivitis Sicca	62
212		SCH014	Schistosomiasis	62
213	P	MCK013	Meckel Syndrome, Type 1	62
214	c	SYS004	Systemic Mastocytosis	62
215	P	DNG005	Dengue Virus	62
216		PLS011	Plasmacytoma	62
217	P	RBL001	Rubella	62
218	P	UVT001	Uveitis	62
219		LPT001	Leptospirosis	62
220		RFS006	Refsum Disease, Classic	62
221	P	GLY013	Glycogen Storage Disease	61
222	P	NMN002	Niemann-Pick Disease	61
223	P	HYP055	Hypoplastic Left Heart Syndrome	61
224		ALP103	Alpha-1-Antitrypsin Deficiency	61
225	P	MTR004	Maturity-Onset Diabetes of the Young	61
226		HNC001	Henoch-Schoenlein Purpura	61
227		RHM001	Rheumatic Fever	61
228		DRR014	Darier-White Disease	61
229	c	GCH016	Gaucher Disease, Type Ii	61
230	P	GLM007	Glomerulonephritis	61
231		KLP010	Klippel-Trenaunay-Weber Syndrome	61
232	P	BRG001	Brugada Syndrome	61
233	c	ATS347	Autosomal Dominant Polycystic Kidney Disease	61
234		HYP810	Hypereosinophilic Syndrome, Idiopathic	61
235		ANT024	Anthrax Disease	61
236	P	GRV001	Graves' Disease	61
237		CCC001	Coccidioidomycosis	61
238	P	PRT013	Portal Hypertension	61
239	P	VNT002	Ventricular Septal Defect	61
240		CHK001	Chikungunya	61
241		ADN027	Adenomyosis	60
242	P	HRD008	Hereditary Hemorrhagic Telangiectasia	60
243	P	NTR004	Neutropenia	60
244	P	HST010	Histiocytosis	60
245	P	SJG008	Sjogren Syndrome	60
246	P	ANT006	Antiphospholipid Syndrome	60
247		STT001	Status Epilepticus	60
248	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
249	P	PNS012	Paine Syndrome	60
250		MYX005	Myxoid Liposarcoma	60
251		CHR619	Chromosome 2q35 Duplication Syndrome	60
252	P	MLG056	Malignant Hyperthermia	60
253	P	PRP029	Porphyria	60
254		OCL020	Ocular Cicatricial Pemphigoid	60
255	c	SVR001	Severe Acute Respiratory Syndrome	60
256		DNH001	Donohue Syndrome	60
257		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	60
258		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	60
259		AVN001	Avian Influenza	60
260	P	ERY058	Erythrocytosis, Familial, 1	60
261		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	60
262	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
263	P	WLF004	Wolfram Syndrome	60
264		PLM070	Pulmonic Stenosis	60
265	c	MLT159	Multiple Endocrine Neoplasia, Type Iib	60
266		LYS012	Lysosomal Acid Lipase Deficiency	60
267		CNT061	Conotruncal Heart Malformations	60
268		HPT046	Hepatic Veno-Occlusive Disease	60
269	P	SPN052	Spondyloarthropathy	59
270	P	ESP035	Esophagitis, Eosinophilic, 1	59
271		VGT001	Vogt-Koyanagi-Harada Disease	59
272		WST001	West Syndrome	59
273		ARG002	Argininosuccinic Aciduria	59
274	c	PRD040	Periodontitis, Chronic	59
275		PTR032	Peters-Plus Syndrome	59
276		NTH001	Netherton Syndrome	59
277	P	CHL002	Childhood Absence Epilepsy	59
278		CFF002	Coffin-Lowry Syndrome	59
279		PTN001	Patent Foramen Ovale	59
280	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	59
281	P	MYC008	Myocarditis	59
282		SFT003	Soft Tissue Sarcoma	59
283	P	HMR003	Hemorrhagic Disease	59
284	c	GLC097	Glaucoma 3, Primary Congenital, a	59
285		PLC008	Placenta Disease	59
286		ANG020	Angiosarcoma	59
287		SYN007	Synovitis	59
288		SML019	Smallpox	59
289		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	58
290	c	ANG068	Angioedema, Hereditary, Type I	58
291	P	OCL013	Oculodentodigital Dysplasia	58
292	P	SCL018	Scoliosis	58
293	P	PRM002	Primary Hyperoxaluria	58
294	P	ECL001	Eclampsia	58
295	c	PRT132	Protoporphyria, Erythropoietic, 1	58
296	c	FNC042	Fanconi Anemia, Complementation Group D2	58
297	c	MYT020	Myotonic Dystrophy 2	58
298		CHL067	Cholecystitis	58
299	c	NMN016	Niemann-Pick Disease, Type B	58
300	c	PRX045	Peroxisome Biogenesis Disorder 1b	58
301	P	SYP003	Syphilis	58
302	c	CRP023	Carpenter Syndrome 1	58
303	P	TMP001	Temporal Lobe Epilepsy	58
304		STR039	Sturge-Weber Syndrome	58
305	c	GCH017	Gaucher Disease, Type Iii	58
306		HYP730	Hypogonadotropic Hypogonadism	58
307	c	ACT135	Acute Graft Versus Host Disease	58
308	P	ANG015	Angioedema	57
309	P	AXN002	Axenfeld-Rieger Syndrome	57
310	P	LKD001	Leukodystrophy	57
311	P	ACT105	Acute Mountain Sickness	57
312	c	RHB024	Rhabdomyosarcoma 2	57
313	P	ICH004	Ichthyosis	57
314	P	PLY006	Polydactyly	57
315	P	SLV001	Silver-Russell Syndrome	57
316		ANN002	Anencephaly	57
317		CTR172	Citrullinemia, Classic	57
318	c	CRN139	Cornelia De Lange Syndrome 1	57
319		PRP082	Porphyria, Congenital Erythropoietic	57
320		STS003	Sitosterolemia	57
321		SMT008	Smith-Magenis Syndrome	57
322		LCR014	Lacrimoauriculodentodigital Syndrome	57
323		HLL004	Hellp Syndrome	57
324	P	LYS001	Loeys-Dietz Syndrome	57
325		PRP032	Porphyria Variegata	57
326	P	VND007	Van Der Woude Syndrome 1	57
327		CPR004	Coproporphyria, Hereditary	56
328		INF034	Infective Endocarditis	56
329		GDP001	Goodpasture Syndrome	56
330		RSP019	Respiratory Distress Syndrome in Premature Infants	56
331		ECT006	Ectodermal Dysplasia	56
332		FCT003	Factor X Deficiency	56
333		OST024	Osteoporosis-Pseudoglioma Syndrome	56
334		MTC097	Mitochondrial Complex Iv Deficiency	56
335		CHN055	Chanarin-Dorfman Syndrome	56
336	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	56
337	P	STC001	Stickler Syndrome	56
338	P	ATR001	Atrioventricular Septal Defect	56
339		MYC087	Mycoplasma Pneumoniae Pneumonia	56
340	c	LNG047	Long Qt Syndrome 2	56
341	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	56
342		CLF004	Cleft Lip/palate	56
343		GRG001	Greig Cephalopolysyndactyly Syndrome	56
344	c	SCN007	Secondary Hyperparathyroidism	55
345	c	SVR005	Severe Pre-Eclampsia	55
346	P	HYP050	Hyperinsulinemic Hypoglycemia	55
347		ASP002	Aspartylglucosaminuria	55
348	c	CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	55
349		CRM001	Crimean-Congo Hemorrhagic Fever	55
350		WLL006	Wells Syndrome	55
351	c	AMY009	Amyloidosis Aa	55
352	c	HPT007	Hepatitis E	55
353	c	WLF013	Wolfram Syndrome 1	55
354		HMP005	Hemiplegia	55
355	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
356		ART002	Arts Syndrome	55
357	P	DBT005	Diabetes Insipidus	55
358		TBR011	Tuberculous Meningitis	55
359		ERD001	Erdheim-Chester Disease	55
360		MCR088	Microscopic Polyangiitis	55
361	P	HLL001	Hallermann-Streiff Syndrome	55
362	P	ATS308	Autosomal Dominant Cerebellar Ataxia	55
363		VRN004	Vernal Keratoconjunctivitis	55
364		RFL001	Reflex Sympathetic Dystrophy	55
365	P	HYD033	Hydrolethalus Syndrome 1	55
366	c	NNN012	Noonan Syndrome 5	55
367	P	CRN108	Cranioectodermal Dysplasia 1	55
368	P	FBR031	Febrile Seizures	55
369		HRL003	Hurler Syndrome	55
370	c	MLT086	Multiple Endocrine Neoplasia, Type Iv	54
371	c	ANM036	Anemia, Sideroblastic, 1	54
372		DXT001	Dextrocardia	54
373		PRP016	Paraplegia	54
374		CRY005	Cryptococcosis	54
375	P	END047	Endophthalmitis	54
376		FLT011	Felty Syndrome	54
377	c	ANT034	Anterior Uveitis	54
378		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	54
379	c	PYR010	Peyronie's Disease	54
380	c	BRC078	Brachydactyly, Type A1	54
381	P	ALP061	Alopecia, Androgenetic, 1	54
382	c	CRG004	Crigler-Najjar Syndrome, Type Ii	54
383	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	54
384		BRL010	Buruli Ulcer	54
385	c	LBR014	Leber Congenital Amaurosis 4	54
386	P	NLD001	Nail Disease	54
387	P	SCK004	Seckel Syndrome	54
388	P	PRT096	Peritoneal Mesothelioma	54
389		MLT135	Multiple Sulfatase Deficiency	54
390	c	BRC051	Brachydactyly, Type B1	54
391	c	INT064	Intermediate Uveitis	53
392		ABL002	Ablepharon-Macrostomia Syndrome	53
393		ERL001	Early Myoclonic Encephalopathy	53
394	c	NNN009	Noonan Syndrome 2	53
395		ESP020	Esophageal Atresia	53
396	c	BNG030	Benign Ependymoma	53
397	P	OTS001	Otosclerosis	53
398	P	SCK002	Sick Sinus Syndrome	53
399		MCK005	Mckusick-Kaufman Syndrome	53
400	P	CNG010	Congenital Stationary Night Blindness	53
401		CCT002	Cicatricial Pemphigoid	53
402	P	CTN003	Cutaneous Lupus Erythematosus	53
403		NSS002	Neisseria Meningitidis Infection	53
404	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
405		RNP003	Renpenning Syndrome 1	53
406	c	ART144	Arthrogryposis, Distal, Type 1a	53
407		CYT005	Cytomegalovirus Retinitis	53
408	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	53
409	P	LPM005	Lipomatosis	53
410		ECT026	Ectopic Pregnancy	53
411		ENH001	Enhanced S-Cone Syndrome	53
412	P	OPN001	Open-Angle Glaucoma	53
413		EPD015	Epidemic Typhus	53
414	c	SCN036	Secondary Progressive Multiple Sclerosis	53
415		ACR011	Acromesomelic Dysplasia, Maroteaux Type	53
416	P	ZLL001	Zellweger Syndrome	53
417	c	CNG027	Congenital Hemolytic Anemia	53
418	c	THR045	Thrombotic Thrombocytopenic Purpura, Congenital	53
419	P	LCT001	Lactic Acidosis	52
420		TRC008	Trachoma	52
421	c	OST163	Osteopetrosis, Autosomal Recessive 3	52
422	P	ART062	Arthrogryposis, Renal Dysfunction, and Cholestasis 1	52
423	c	ATM082	Autoimmune Lymphoproliferative Syndrome, Type V	52
424		ALV002	Alveolar Echinococcosis	52
425	c	HPT015	Hepatitis D	52
426	c	WRD033	Waardenburg Syndrome, Type 2e	52
427	c	INV001	Invasive Aspergillosis	52
428	P	ACT010	Acth-Secreting Pituitary Adenoma	52
429		MTC146	Mitochondrial Complex I Deficiency, Nuclear Type 1	52
430		SPT005	Spotted Fever	52
431		RGH009	Right Atrial Isomerism	52
432		ANS023	Anus, Imperforate	52
433	c	ART120	Arthrogryposis, Distal, Type 3	52
434		HPT009	Hepatopulmonary Syndrome	52
435	c	PST005	Posterior Uveitis	52
436	c	CNG012	Congenital Generalized Lipodystrophy	52
437		GLC009	Glucosephosphate Dehydrogenase Deficiency	52
438	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	52
439		HYP458	Hyper Ige Syndrome	52
440	P	CMP008	Compartment Syndrome	52
441	P	MYP087	Myopathy, Tubular Aggregate, 1	52
442		DYS192	Dystonia, Dopa-Responsive	52
443	P	MYT002	Myotonic Dystrophy	52
444		PRN011	Pernicious Anemia	52
445	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
446		PST062	Pustulosis Palmaris Et Plantaris	52
447		HNT002	Hantavirus Pulmonary Syndrome	52
448	P	VSC013	Visceral Heterotaxy	52
449	P	MYM013	Moyamoya Disease 1	52
450	P	MRC003	Mercury Poisoning	52
451		ALP097	Alopecia Universalis Congenita	52
452		EBL001	Ebola Hemorrhagic Fever	52
453		ESN015	Eosinophilic Fasciitis	52
454		HMS001	Hemosiderosis	52
455		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	52
456	P	MTC133	Mitochondrial Myopathy	52
457		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	52
458	c	CNT075	Central Precocious Puberty	52
459	P	OMP004	Omphalocele	52
460		GLC012	Galactosialidosis	52
461	P	PSD015	Pseudohypoparathyroidism	51
462		PRR016	Pierre Robin Syndrome	51
463		CNG046	Congenital Fiber-Type Disproportion	51
464		CCH002	Coach Syndrome	51
465		KRT002	Keratomalacia	51
466		GRN017	Granulocytopenia	51
467		BRT005	Barth Syndrome	51
468	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	51
469	P	SCL009	Sclerosing Cholangitis	51
470	c	BRD012	Bardet-Biedl Syndrome 11	51
471		MNN042	Meningioma, Radiation-Induced	51
472		TRC012	Trichuriasis	51
473	c	CLR131	Ciliary Dyskinesia, Primary, 1	51
474		NDL013	Nodular Regenerative Hyperplasia	51
475		FBR032	Fibromuscular Dysplasia	51
476		EBS001	Ebstein Anomaly	51
477	c	PRM108	Primary Progressive Multiple Sclerosis	51
478	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	51
479		MCR141	Mucormycosis	51
480	c	SPN293	Spinocerebellar Ataxia 12	51
481	P	NRB010	Neuroblastoma 1	51
482	P	ASP001	Asperger Syndrome	51
483	P	GND004	Gonadal Dysgenesis	51
484		SPN119	Spondylarthropathy	51
485		ESN011	Eisenmenger Syndrome	51
486		MMB001	Membranoproliferative Glomerulonephritis	51
487		NCR007	Necrotizing Fasciitis	51
488		FRY006	Fryns Microphthalmia Syndrome	51
489		HMP009	Haemophilus Influenzae	51
490		NNT017	Neonatal Adrenoleukodystrophy	51
491		DRG026	Drug Reaction with Eosinophilia and Systemic Symptoms	51
492		CMP028	Complement Component 2 Deficiency	51
493	c	ATM099	Autoimmune Uveitis	51
494	c	FML023	Familial Hemiplegic Migraine	50
495	c	PRX059	Peroxisome Biogenesis Disorder 1a	50
496	P	VNB005	Van Buchem Disease	50
497		GNG004	Ganglioglioma	50
498		VTR016	Vater/vacterl Association	50
499		MTC020	Mitochondrial Complex Ii Deficiency	50
500		GLC004	Galactokinase Deficiency	50
501		SBP001	Subependymal Giant Cell Astrocytoma	50
502	P	BRS053	Breast Fibroadenoma	50
503	c	ACR116	Aicardi-Goutieres Syndrome 1	50
504	P	BRC006	Brachydactyly	50
505	P	INF049	Infantile Myofibromatosis	50
506		ESP002	Esophageal Varix	50
507		DBL002	Double Outlet Right Ventricle	50
508		DYG001	Dyggve-Melchior-Clausen Disease	50
509	P	WLL002	Weill-Marchesani Syndrome	50
510		HNN001	Hennekam Syndrome	50
511		CNG028	Congenital Hypoplastic Anemia	50
512		FSH001	Fish-Eye Disease	50
513	c	VNW008	Von Willebrand Disease, Type 3	50
514	c	CCK007	Cockayne Syndrome B	50
515	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
516		IDP035	Idiopathic Achalasia	50
517	c	PST041	Posterior Urethral Valves	50
518	P	HYP087	Hypotrichosis	50
519	c	MLG002	Malignant Peritoneal Mesothelioma	50
520	c	LNG048	Long Qt Syndrome 3	50
521		GLC036	Glucagonoma	50
522		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	50
523	c	NML002	Nemaline Myopathy 1	50
524		SBP004	Subependymoma	50
525		SPH010	Sphingolipidosis	50
526	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	50
527		DRG013	Drug-Induced Lupus Erythematosus	50
528		CHL018	Childhood Medulloblastoma	50
529		CTY001	Cat Eye Syndrome	50
530		ESN002	Eosinophilia-Myalgia Syndrome	50
531		RST011	Restrictive Dermopathy, Lethal	50
532		HYP347	Hypotonia-Cystinuria Syndrome	50
533	c	BRC109	Brachydactyly, Type E1	50
534	P	AFB001	Afibrinogenemia	50
535	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
536		STR072	Stromal Keratitis	50
537	c	MLG069	Malignant Hypertension	50
538		CHR101	Char Syndrome	50
539		DNN001	Danon Disease	50
540	c	RNG023	Ring Chromosome 7	50
541		LCH011	Lichen Planopilaris	49
542	P	SCL015	Scleritis	49
543	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	49
544		WHP001	Whipple Disease	49
545	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	49
546	P	HMP006	Hemiplegic Migraine	49
547	P	CLS054	Classic Ehlers-Danlos Syndrome	49
548		DRR008	Diarrhea 1, Secretory Chloride, Congenital	49
549	c	CHR037	Chronic Eosinophilic Pneumonia	49
550	P	PRX021	Proximal Symphalangism	49
551		HYP081	Hypolipoproteinemia	49
552		SLP001	Sleeping Sickness	49
553	c	ACH041	Achondrogenesis, Type Ii	49
554	c	CRS016	Crisponi/cold-Induced Sweating Syndrome 1	49
555		FBR008	Fibrillary Astrocytoma	49
556		ART031	Aortic Coarctation	49
557		ALL001	Allan-Herndon-Dudley Syndrome	49
558		PRV004	Periventricular Leukomalacia	49
559		ANL022	Anal Fistula	49
560		NNS002	Nonspecific Interstitial Pneumonia	49
561		STS002	Situs Inversus	49
562		BTY001	Butyrylcholinesterase Deficiency	49
563		PHL006	Phelan-Mcdermid Syndrome	49
564	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	49
565	c	NRC009	Narcolepsy 1	49
566	P	NLX004	Neu-Laxova Syndrome 1	49
567		ZKF001	Zika Fever	49
568		FBR019	Fibromatosis	49
569		PLN005	Palindromic Rheumatism	49
570	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
571	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	49
572	c	PSR017	Psoriasis 2	49
573	P	ART018	Aortic Valve Insufficiency	49
574	P	CRN074	Coronary Artery Aneurysm	49
575		HYP088	Hyper-Igd Syndrome	49
576		MCR225	Macrophage Activation Syndrome	49
577		FRB001	Farber Lipogranulomatosis	49
578		CTS011	Cutis Marmorata Telangiectatica Congenita	49
579	c	NML003	Nemaline Myopathy 2	49
580		MRB001	Marburg Hemorrhagic Fever	49
581		ORT008	Orotic Aciduria	49
582	c	GM2006	Gm2 Gangliosidosis	49
583	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	48
584	c	GRS014	Griscelli Syndrome, Type 2	48
585	P	NML001	Nemaline Myopathy	48
586	P	EPT020	Epithelioid Hemangioendothelioma	48
587		RVS001	Revesz Syndrome	48
588	c	WRD032	Waardenburg Syndrome, Type 2a	48
589	c	BRD044	Bardet-Biedl Syndrome 17	48
590	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	48
591		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	48
592		NVS001	Neovascular Glaucoma	48
593	P	TRT019	Torticollis	48
594		NDL003	Nodular Nonsuppurative Panniculitis	48
595		MNN020	Meningococcal Infection	48
596	P	CHN059	Chondrocalcinosis	48
597		UNV001	Unverricht-Lundborg Syndrome	48
598		TRC040	Tracheoesophageal Fistula	48
599		IDP073	Idiopathic Hypercalciuria	48
600		TRC062	Tricuspid Atresia	48
601	c	3MT015	3-Methylglutaconic Aciduria, Type I	48
602		PRG033	Progressive Non-Fluent Aphasia	48
603	c	BDY007	Body Mass Index Quantitative Trait Locus 1	48
604		NNC002	Nance-Horan Syndrome	48
605	P	ART084	Arteriovenous Fistula	48
606		PLM041	Pulmonary Valve Stenosis	48
607		ACR058	Acrofacial Dysostosis 1, Nager Type	48
608		HYP741	Hyperparathyroidism 2 with Jaw Tumors	48
609	c	RTN177	Retinitis Pigmentosa 73	48
610	c	FRS014	Fraser Syndrome 1	48
611	P	ATM019	Autoimmune Polyendocrine Syndrome	48
612		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	48
613	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	48
614		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	48
615	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	48
616	P	TYR004	Tyrosinemia	48
617		JHN001	Johanson-Blizzard Syndrome	48
618	c	ACT078	Acute Porphyria	48
619	c	SPN312	Spinocerebellar Ataxia 14	48
620		SGW002	Segawa Syndrome, Autosomal Recessive	48
621		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	48
622	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	48
623		KRT010	Kartagener Syndrome	48
624		PRS115	Prosthetic Joint Infection	48
625	P	KRT005	Keratoacanthoma	48
626		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	48
627		TLR001	Tularemia	48
628		MYD002	Myd88 Deficiency	48
629	P	HRD018	Hair Disease	48
630	c	EPL073	Epilepsy, Nocturnal Frontal Lobe, 1	48
631	P	RPD001	Rapidly Progressive Glomerulonephritis	47
632	P	PYR039	Peyronie Disease	47
633	c	HMC010	Hemochromatosis, Type 3	47
634		SYM002	Sympathetic Ophthalmia	47
635	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	47
636		END020	Endocardial Fibroelastosis	47
637		MCR165	Microphthalmia with Limb Anomalies	47
638		MYC012	Mycetoma	47
639	P	NNT009	Neonatal Diabetes Mellitus	47
640	P	MYF003	Myofibrillar Myopathy	47
641	c	CHR546	Chronic Mountain Sickness	47
642	c	SCK009	Seckel Syndrome 1	47
643	c	HNT004	Huntington Disease-Like 2	47
644	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	47
645		ANC002	Anca-Associated Vasculitis	47
646	P	CNR007	Cone-Rod Dystrophy 6	47
647		DWR001	Dwarfism	47
648	P	MTH007	Methemoglobinemia	47
649	c	HMC035	Hemochromatosis, Type 4	47
650	c	ALB019	Albinism, Oculocutaneous, Type Iv	47
651		MLT134	Multiple Pterygium Syndrome, Lethal Type	47
652		MYX001	Myxopapillary Ependymoma	47
653	c	MYP072	Myopathy, Myofibrillar, 1	47
654		TRN022	Transcobalamin Ii Deficiency	47
655		LMB050	Limbal Stem Cell Deficiency	47
656	c	JVN003	Juvenile Xanthogranuloma	47
657		BNS003	Binswanger's Disease	47
658		HYP231	Hypothalamic Hamartomas	47
659	c	RTN142	Retinitis Pigmentosa 38	47
660	P	SYN075	Syngnathia	47
661	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	47
662	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	47
663	c	SCH079	Schizophrenia 1	47
664	c	ACT076	Acute Myocarditis	47
665		GGR001	Geographic Tongue	47
666	c	BRD032	Bardet-Biedl Syndrome 14	47
667		FCL022	Focal Dystonia	47
668		ALV007	Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins	47
669	c	OPT051	Opitz Gbbb Syndrome, Type I	47
670	P	GNG009	Gangliosidosis	47
671	P	MRD002	Marden-Walker Syndrome	47
672		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	47
673	c	ART155	Arthrogryposis, Distal, Type 2b1	47
674	P	FNG006	Feingold Syndrome 1	46
675		ANT039	Antisynthetase Syndrome	46
676	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	46
677		PHS021	Phosphoglycerate Dehydrogenase Deficiency	46
678		PMP004	Pemphigus Foliaceus	46
679	c	BRC079	Brachydactyly, Type A2	46
680	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	46
681	c	FNC028	Fanconi Anemia, Complementation Group L	46
682		CHR594	Chromosome 3q29 Deletion Syndrome	46
683		HRT031	Hartnup Disorder	46
684		CNG069	Congenital Cytomegalovirus	46
685	P	PRK001	Porokeratosis	46
686		HYD058	Hydrops, Lactic Acidosis, and Sideroblastic Anemia	46
687		ACT055	Actinomycosis	46
688	c	SPN100	Spinocerebellar Ataxia 27	46
689	c	USH035	Usher Syndrome Type 2	46
690	c	SPH013	Spherocytosis, Type 1	46
691	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
692		MYP136	Myopathy, Centronuclear, X-Linked	46
693		SND002	Sneddon Syndrome	46
694	P	PSD003	Pseudohypoaldosteronism	46
695	c	WRD020	Waardenburg Syndrome, Type 4a	46
696		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	46
697		MCR037	Macroglossia	46
698		CHN065	Choanal Atresia, Posterior	46
699		PYG006	Pyogenic Granuloma	46
700	c	3MT014	3-Methylglutaconic Aciduria, Type V	46
701		SPR010	Sporotrichosis	46
702		CRD002	Cri-Du-Chat Syndrome	46
703		HMH004	Hemihyperplasia, Isolated	46
704	P	SDR002	Siderosis	46
705		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	46
706	c	WRD019	Waardenburg Syndrome, Type 4b	46
707	c	JVN009	Juvenile Pilocytic Astrocytoma	46
708		JVN033	Juvenile Nasopharyngeal Angiofibroma	46
709	c	LTN004	Late-Onset Retinal Degeneration	46
710	P	CRN276	Corneal Endothelial Dystrophy	46
711	c	RTN172	Retinitis Pigmentosa 1	46
712		TRC109	Tracheoesophageal Fistula with or Without Esophageal Atresia	46
713		CRV043	Cervical Dystonia	46
714	c	HMC009	Hemochromatosis Type 2	46
715		KPS002	Kaposiform Hemangioendothelioma	46
716	c	ALB015	Albinism, Oculocutaneous, Type V	46
717	c	USH021	Usher Syndrome, Type Iid	46
718		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	46
719	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	46
720		KBG001	Kbg Syndrome	46
721	P	DNR001	Duane Retraction Syndrome	46
722		RCR004	Recurrent Respiratory Papillomatosis	45
723		CHR492	Chromosome 13q14 Deletion Syndrome	45
724		BRN041	Bornholm Eye Disease	45
725	P	MCL001	Mucolipidosis	45
726	c	NNN013	Noonan Syndrome 6	45
727	P	HRT035	Heart Block, Congenital	45
728		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	45
729	c	CRN243	Carney Complex, Type 1	45
730		PRS127	Pearson Marrow-Pancreas Syndrome	45
731	c	BRC081	Brachydactyly, Type C	45
732		MNN001	Meningeal Melanocytoma	45
733		MCR173	Microform Holoprosencephaly	45
734	P	WHT013	White Sponge Nevus 1	45
735		MNL001	Monilethrix	45
736		PLM021	Pilomyxoid Astrocytoma	45
737	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	45
738	c	FNC029	Fanconi Anemia, Complementation Group I	45
739	P	MNN018	Mannosidosis	45
740		STT007	Steatocystoma Multiplex	45
741	P	RDL002	Radioulnar Synostosis	45
742	c	FNC045	Fanconi Anemia, Complementation Group F	45
743	c	BRD020	Bardet-Biedl Syndrome 8	45
744	P	CLS010	Cluster Headache	45
745		GLC106	Glucocorticoid Resistance, Generalized	45
746	P	MSC022	Mosaic Variegated Aneuploidy Syndrome	45
747	P	TRM004	Trimethylaminuria	45
748		VCT001	Vacterl Association	45
749		LPP002	Lipoprotein Glomerulopathy	45
750	P	CPL003	Capillary Leak Syndrome	45
751	P	SCL057	Scoliosis, Isolated 1	45
752	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
753	c	SYS007	Systemic Capillary Leak Syndrome	45
754		PSD016	Pseudosarcomatous Fibromatosis	45
755		HYP466	Hyperplastic Polyposis Syndrome	45
756		INC003	Inclusion Conjunctivitis	45
757	c	PRM022	Primary Syphilis	45
758	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	45
759		OCL033	Oculocerebral Syndrome with Hypopigmentation	45
760	c	HYP794	Hyperoxaluria, Primary, Type I	45
761		SYR002	Syringocystadenoma Papilliferum	45
762		MNN032	Meningococcal Meningitis	45
763	c	BRD033	Bardet-Biedl Syndrome 13	45
764		TKL001	Tukel Syndrome	45
765	c	ACH021	Achromatopsia 3	45
766	c	BRC060	Brachydactyly, Type E2	45
767	c	BRG005	Brugada Syndrome 1	45
768		MRG013	Mirage Syndrome	45
769	c	ACT159	Acute Transverse Myelitis	45
770	c	OPT050	Opitz Gbbb Syndrome, Type Ii	45
771	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	45
772		CRV045	Cervical Intraepithelial Neoplasia	45
773		GRN007	Granuloma Annulare	45
774	P	PSD086	Pseudoarthrosis	45
775		BTN002	Boutonneuse Fever	45
776	c	LPD019	Lipodystrophy, Partial, Acquired	44
777	c	MCL066	Macular Dystrophy, Vitelliform, 2	44
778		CHN010	Chondroma	44
779	c	SHR030	Short Qt Syndrome	44
780		MLB001	Mulibrey Nanism	44
781		PHH001	Phaeohyphomycosis	44
782		UVL010	Uveal Disease	44
783		IDP064	Idiopathic Neutropenia	44
784	c	WRD031	Waardenburg Syndrome, Type 3	44
785		VLV042	Vulvar Vestibulitis Syndrome	44
786		SHR098	Short-Rib Thoracic Dysplasia 12	44
787	P	CHN044	Chondrodysplasia Punctata Syndrome	44
788	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	44
789		PLL008	Pallister-Killian Syndrome	44
790	P	JVN024	Juvenile Hereditary Hemochromatosis	44
791		VNZ002	Venezuelan Equine Encephalitis	44
792		MYC013	Mycobacterium Abscessus	44
793		NRW001	Norwegian Scabies	44
794	c	HYP507	Hypotrichosis 1	44
795	c	BRD011	Bardet-Biedl Syndrome 10	44
796	P	MTC004	Mitochondrial Encephalomyopathy	44
797		STP004	Staphylococcal Toxic Shock Syndrome	44
798	c	MCK032	Meckel Syndrome, Type 3	44
799	c	BRT050	Bartter Syndrome, Type 2, Antenatal	44
800		MHR001	Mohr-Tranebjaerg Syndrome	44
801	P	BRY005	Beryllium Disease	44
802	P	EPN001	Ependymoblastoma	44
803		ASP004	Asphyxia Neonatorum	44
804		ACD008	Acid-Labile Subunit Deficiency	44
805		NCR004	Nocardiosis	44
806	c	SPN103	Spinocerebellar Ataxia 31	44
807		CHN053	Chondromyxoid Fibroma	44
808		PLM019	Pleomorphic Liposarcoma	44
809		PRN049	Paraneoplastic Pemphigus	44
810	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	44
811	c	HYP543	Hypoplastic Left Heart Syndrome 1	44
812		MWT001	Mowat-Wilson Syndrome	44
813		CHR008	Choroiditis	44
814	c	LNG050	Long Qt Syndrome 5	44
815		ORF044	Orofacial Granulomatosis	44
816		ATP013	Atopic Keratoconjunctivitis	44
817	c	FNC057	Fanconi Anemia, Complementation Group U	44
818		ANP009	Anaplastic Oligodendroglioma	44
819		MCR020	Microsporidiosis	44
820	c	AMY069	Amyotrophic Lateral Sclerosis 21	44
821		NTR018	Neutrophilia, Hereditary	44
822	c	NML004	Nemaline Myopathy 3	44
823	c	MCK012	Meckel Syndrome, Type 6	44
824	P	SYN012	Synpolydactyly	44
825		KRT063	Keratocystic Odontogenic Tumor	44
826		LCH009	Lichen Sclerosus	44
827	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	44
828		ANG002	Angiostrongyliasis	44
829		MYL013	Myeloperoxidase Deficiency	44
830	c	BRD018	Bardet-Biedl Syndrome 6	44
831	c	SPN308	Spinocerebellar Ataxia 28	44
832		DSC009	Discoid Lupus Erythematosus	44
833	c	TRN032	Transient Neonatal Diabetes Mellitus	44
834	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	44
835		RHM035	Rheumatic Fever-Related Antigen	44
836		CRB108	Cerebral Palsy, Ataxic, Autosomal Recessive	44
837		ERY004	Erysipelas	44
838	P	ANL018	Analbuminemia	44
839		ORM002	Oromandibular Dystonia	43
840	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	43
841		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	43
842		HST017	Histiocytosis-Lymphadenopathy Plus Syndrome	43
843		HTR003	Heterotaxy	43
844		GNG008	Ganglioneuroblastoma	43
845		PLM030	Pleomorphic Rhabdomyosarcoma	43
846		PLM020	Pleomorphic Xanthoastrocytoma	43
847	c	TYR011	Tyrosinemia, Type Iii	43
848	c	RTN160	Retinitis Pigmentosa 60	43
849	c	PSR028	Psoriasis 7	43
850	c	PSR032	Psoriasis 11	43
851	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	43
852		NNK001	Nonaka Myopathy	43
853		RLP003	Relapsing Fever	43
854		RBF001	Riboflavin Deficiency	43
855		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	43
856		TRP014	Triploidy	43
857	c	LNG051	Long Qt Syndrome 6	43
858		FRG010	Fragile X Tremor/ataxia Syndrome	43
859	c	FNC025	Fanconi Anemia, Complementation Group J	43
860		DYS032	Dystrophinopathies	43
861		PRM057	Paramyotonia Congenita of Von Eulenburg	43
862	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	43
863		NRM018	Normosmic Congenital Hypogonadotropic Hypogonadism	43
864		ACT093	Actinic Cheilitis	43
865		ATR013	Atrichia with Papular Lesions	43
866		GND001	Gonadoblastoma	43
867		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	43
868	P	PLL002	Pellagra	43
869		OCL025	Ocular Toxoplasmosis	43
870		GLY031	Glycoproteinosis	43
871		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	43
872		EST005	Esotropia	43
873	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	43
874		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	43
875		PKL001	Poikiloderma with Neutropenia	43
876		ASB001	Asbestosis	43
877		HYP706	Hypermobile Ehlers-Danlos Syndrome	43
878	P	BNG032	Benign Mesothelioma	43
879	P	ORF002	Orofacial Cleft	43
880	c	MYP123	Myopathy, Centronuclear, 1	43
881	c	CNG023	Congenital Fibrosarcoma	43
882	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	43
883		MYC017	Mycobacterium Kansasii	43
884		PST027	Postencephalitic Parkinson Disease	43
885		LMB024	Limbic Encephalitis	42
886	c	NNN011	Noonan Syndrome 4	42
887		TLP001	Talipes Equinovarus	42
888	P	CNG003	Congenital Dyserythropoietic Anemia	42
889	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	42
890		LKP003	Leukoplakia	42
891		BBN001	Bubonic Plague	42
892	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	42
893		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	42
894	c	SPN330	Spondylocostal Dysostosis 5	42
895		IND002	Indolent Systemic Mastocytosis	42
896	c	MCL016	Mucolipidosis Iii Gamma	42
897	c	MYS078	Myasthenic Syndrome, Congenital, 14	42
898	c	PSR018	Psoriasis 13	42
899	c	BRC062	Brachydactyly, Type D	42
900		DDF001	Dedifferentiated Liposarcoma	42
901		FBL002	Fibular Hypoplasia and Complex Brachydactyly	42
902		TTR011	Tetraploidy	42
903		BWN003	Bowenoid Papulosis	42
904	c	BRD048	Bardet-Biedl Syndrome 18	42
905		CRR001	Carrion's Disease	42
906	c	PLY105	Polycystic Ovary Syndrome 1	42
907	c	CHL140	Chilblain Lupus 1	42
908	c	SPL034	Split-Hand/foot Malformation 4	42
909	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	42
910	c	RTN143	Retinitis Pigmentosa 47	42
911		NVS015	Nevus Comedonicus	42
912	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	42
913	c	FNC023	Fanconi Anemia, Complementation Group N	42
914		47X002	47,xyy	42
915		DBT090	Diabetes and Deafness, Maternally Inherited	42
916		HND004	Hand-Foot-Genital Syndrome	42
917	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	42
918		VLV044	Vulvar Intraepithelial Neoplasia	42
919		MCR216	Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation	42
920		PCH007	Pouchitis	42
921		ORN001	Ornithosis	42
922	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	42
923	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	42
924	c	SPH014	Spherocytosis, Type 2	42
925	c	BRD035	Bardet-Biedl Syndrome 15	42
926		RCK002	Rocky Mountain Spotted Fever	42
927	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	42
928		MYP151	Myopathy, Congenital, Bailey-Bloch	42
929		HMF009	Hemifacial Hyperplasia	42
930	c	RTN043	Retinitis Pigmentosa 13	42
931	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	42
932	P	PST059	Pustular Psoriasis	42
933		HYL004	Hyaline Fibromatosis Syndrome	42
934		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	42
935		ZKV001	Zika Virus Infection	42
936	c	HLP024	Holoprosencephaly 2	42
937	c	ACQ012	Acquired Angioedema	42
938	P	YWS001	Yaws	42
939		HSH004	Hashimoto Encephalopathy	42
940		CHY005	Chylothorax, Congenital	42
941		NCR001	Necrotizing Ulcerative Gingivitis	42
942	P	CHR637	Choroidal Dystrophy, Central Areolar, 1	41
943		IDP033	Idiopathic Edema	41
944	P	DYS023	Dyschromatosis Universalis Hereditaria	41
945		BLS002	Blastomycosis	41
946		INH001	Inhalation Anthrax	41
947		CRR002	Currarino Syndrome	41
948		PLG004	Plagiocephaly	41
949	c	RNG004	Ring Chromosome 1	41
950		RMN001	Rumination Disorder	41
951		CSL001	Causalgia	41
952	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	41
953	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	41
954		MLL002	Miller Fisher Syndrome	41
955		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	41
956	c	HYP575	Hypotrichosis 7	41
957		HRT040	Hirata Disease	41
958		CHR178	Chromosomal Triplication	41
959	c	CTR130	Cataract 9, Multiple Types	41
960	c	PRM212	Primary Microcephaly	41
961	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	41
962	c	HMC021	Hemochromatosis, Type 2a	41
963	c	LRS002	Larsen-Like Syndrome	41
964	c	HLP026	Holoprosencephaly 3	41
965		ACN019	Acanthamoeba Keratitis	41
966		TRN044	Transposition of the Great Arteries	41
967		SPN331	Spondyloocular Syndrome	41
968		AMN006	Aminoaciduria	41
969	c	RTS003	Ritscher-Schinzel Syndrome 1	41
970		TNG001	Tungiasis	41
971	c	ALB016	Albinism, Oculocutaneous, Type Vii	41
972		BLR027	Blue Rubber Bleb Nevus	41
973		MNN021	Meningococcemia	41
974		MYP139	Myopathy, Proximal, and Ophthalmoplegia	41
975		CHR211	Chromosome 18p Deletion Syndrome	41
976	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	41
977	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	41
978		FRN014	Fournier Gangrene	41
979	c	GLY023	Glycogen Storage Disease Type 0	41
980		MYH012	Myhre Syndrome	41
981	c	CTR098	Cataract 1, Multiple Types	41
982		TRS021	Triosephosphate Isomerase Deficiency	41
983	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	41
984	c	PNT036	Pontocerebellar Hypoplasia, Type 6	41
985	P	ATL001	Atelosteogenesis	41
986	c	GLY098	Glycogen Storage Disease, Type Ixd	41
987		ISL121	Isolated Split Hand-Split Foot Malformation	41
988	c	ERL056	Early-Onset Parkinson's Disease	41
989	P	MTC010	Mitochondrial Dna Depletion Syndrome	41
990	c	SCK015	Seckel Syndrome 2	41
991		HYP801	Hyperferritinemia with or Without Cataract	41
992	c	ATM022	Autoimmune Myocarditis	41
993	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
994	c	LNG053	Long Qt Syndrome 9	41
995		SCR035	Sacral Agenesis with Vertebral Anomalies	41
996		LKM006	Leukomalacia	41
997		MTG002	Mutagen Sensitivity	40
998	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	40
999		MRN002	Mooren's Ulcer	40
1000	P	DNT009	Dentin Dysplasia	40
1001		CLD011	Cold Urticaria	40
1002	P	MCR364	Macrodactyly	40
1003		VSC016	Vasculopathy, Retinal, with Cerebral Leukodystrophy	40
1004	c	HLP029	Holoprosencephaly 4	40
1005	P	SYR003	Syringoma	40
1006		FNG016	Fungal Keratitis	40
1007	c	GLC083	Glaucoma 3, Primary Infantile, B	40
1008		PTC002	Potocki-Lupski Syndrome	40
1009	c	MCR263	Microphthalmia, Syndromic 1	40
1010	c	CNG033	Congenital Syphilis	40
1011		CHR382	Chromosome 18q Deletion Syndrome	40
1012	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
1013		MNK002	Monkeypox	40
1014	P	ATS011	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	40
1015		PDT025	Pediatric Multiple Sclerosis	40
1016	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	40
1017	P	UVS001	Uv-Sensitive Syndrome	40
1018		GRN022	Granulosa Cell Tumor of the Ovary	40
1019		FXD003	Fixed Drug Eruption	40
1020		EHR002	Ehrlichiosis	40
1021		ESN017	Eosinophilic Granuloma	40
1022		PRX005	Peroxisomal Biogenesis Disorder	40
1023	P	MSN006	Mesenchymoma	40
1024	c	L2H001	L-2-Hydroxyglutaric Aciduria	40
1025		LTH001	Lethal Midline Granuloma	40
1026	P	PRT042	Parietal Foramina	40
1027	c	ERL020	Early-Onset Schizophrenia	40
1028		CRD229	Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism	40
1029	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	40
1030		MYP094	Myopathy, Spheroid Body	40
1031		GNT031	Genitopatellar Syndrome	40
1032		PPL050	Papillary Tumor of the Pineal Region	40
1033		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	40
1034		DHY011	Dihydropyrimidinase Deficiency	40
1035		LRN006	Laurin-Sandrow Syndrome	40
1036	P	SPL061	Split Hand-Foot Malformation	40
1037		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	40
1038	c	OTP007	Otopalatodigital Syndrome, Type Ii	40
1039	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
1040	P	JVN007	Juvenile Absence Epilepsy	40
1041	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
1042	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	40
1043	P	MYG005	Myoglobinuria	40
1044		LPD001	Lipid Pneumonia	40
1045		MNG006	Monogenic Diabetes	40
1046	c	GLL038	Galloway-Mowat Syndrome 1	40
1047	P	XNT004	Xanthinuria	40
1048	P	CRC039	Coarctation of Aorta	40
1049		GNT006	Giant Papillary Conjunctivitis	40
1050	c	HYP559	Hypotrichosis 8	40
1051	c	NML005	Nemaline Myopathy 4	40
1052	c	PRG011	Progressive Myoclonus Epilepsy	40
1053		WLL004	Wallerian Degeneration	40
1054	c	LNG057	Long Qt Syndrome 13	40
1055		SCR020	Sacral Defect with Anterior Meningocele	40
1056	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	40
1057	c	APL023	Aplasia Cutis Congenita, Nonsyndromic	40
1058		GLC001	Glaucomatocyclitic Crisis	40
1059	c	MGR032	Migraine, Familial Hemiplegic, 1	40
1060		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	40
1061		HYP236	Hyperbilirubinemia, Rotor Type	40
1062		WRT003	Warthin Tumor	39
1063		CHR078	Chorioretinitis	39
1064	c	BRD017	Bardet-Biedl Syndrome 5	39
1065	c	EPS017	Episodic Ataxia, Type 6	39
1066	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	39
1067	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	39
1068		END072	Endotheliitis	39
1069		BRB006	Barber-Say Syndrome	39
1070	c	HYD064	Hydrocephalus, Congenital, 1	39
1071		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	39
1072	c	KNB006	Knobloch Syndrome 1	39
1073	c	VTL009	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	39
1074		DNS007	Dense Deposit Disease	39
1075		CRY008	Cryopyrin-Associated Periodic Syndrome	39
1076	c	NNN021	Noonan Syndrome 8	39
1077	c	CHR020	Chronic Interstitial Cystitis	39
1078		EPL131	Epilepsy, Pyridoxine-Dependent	39
1079	c	MCK033	Meckel Syndrome, Type 4	39
1080		LYM029	Lymphedema-Distichiasis Syndrome	39
1081	c	MYP131	Myopathy, Centronuclear, 2	39
1082		MNS001	Mansonelliasis	39
1083		SBV001	Subvalvular Aortic Stenosis	39
1084		HRL004	Hurler-Scheie Syndrome	39
1085	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	39
1086	c	ACQ010	Acquired Polycythemia	39
1087	c	NNN024	Noonan Syndrome 9	39
1088		WBR001	Weber Syndrome	39
1089		PTT002	Potter's Syndrome	39
1090	c	PRK025	Parkinson Disease 10	39
1091		CNZ001	Coenzyme Q10 Deficiency Disease	39
1092		NCR002	Necrobiosis Lipoidica	39
1093	c	ANT071	Anterior Segment Dysgenesis 4	39
1094		STC004	Stachybotrys Chartarum	39
1095		DXT002	Dextrocardia with Situs Inversus	39
1096		CYT002	Cytokine Deficiency	39
1097		AMR003	Amaurosis Fugax	39
1098	c	VNM003	Van Maldergem Syndrome 1	39
1099		ADN064	Adenohypophysitis	39
1100		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	39
1101		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	39
1102	P	TRC005	Tracheal Stenosis	39
1103	c	SPH016	Spherocytosis, Type 4	39
1104		TRP009	Triple X Syndrome	39
1105		CRN247	Corneal Dystrophy, Thiel-Behnke Type	39
1106	c	MCK031	Meckel Syndrome, Type 2	39
1107		C1Q001	C1q Deficiency	39
1108	c	46X002	46 Xx Gonadal Dysgenesis	39
1109		FNT005	Fontaine Progeroid Syndrome	39
1110	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
1111		XFP001	Xfe Progeroid Syndrome	39
1112		PTT045	Pituitary Hormone Deficiency, Combined, 1	39
1113		OVR093	Overhydrated Hereditary Stomatocytosis	39
1114		GLS018	Glass Syndrome	39
1115	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	38
1116		RFR010	Refractory Anemia	38
1117		MNT309	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1	38
1118		LTT002	Letterer-Siwe Disease	38
1119		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	38
1120		SLF014	Sulfite Oxidase Deficiency, Isolated	38
1121	c	TRN009	Transient Hypogammaglobulinemia of Infancy	38
1122		NNT024	Neonatal Stroke	38
1123	c	MLG145	Malignant Epithelioid Hemangioendothelioma	38
1124		CHR386	Chromosome 6pter-P24 Deletion Syndrome	38
1125	c	SPL024	Split-Hand/foot Malformation 3	38
1126		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	38
1127	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	38
1128	c	MCP051	Mucopolysaccharidosis, Type Ix	38
1129		CRB079	Cerebrospinal Fluid Leak	38
1130		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	38
1131		CNT106	Centralopathic Epilepsy	38
1132	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	38
1133	c	HRD171	Hereditary Pulmonary Alveolar Proteinosis	38
1134		HYP137	Hypotrichosis Simplex	38
1135	P	HRD009	Hereditary Wilms' Tumor	38
1136	c	RTN090	Retinitis Pigmentosa 55	38
1137		WLL039	Well-Differentiated Liposarcoma	38
1138		HTR014	Heterotaxy, Visceral, 1, X-Linked	38
1139		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	38
1140	c	SPH015	Spherocytosis, Type 3	38
1141	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	38
1142		HYP550	Hypomagnesemia 1, Intestinal	38
1143	c	RTN048	Retinitis Pigmentosa 19	38
1144		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	38
1145	c	HYP602	Hyperoxaluria, Primary, Type Ii	38
1146		HMP018	Hemophilic Arthropathy	38
1147		WST002	Western Equine Encephalitis	38
1148		BLL012	Bullous Impetigo	38
1149		BRS004	Breast Angiosarcoma	38
1150		CHR667	Chromosome 3pter-P25 Deletion Syndrome	38
1151	P	SRT003	Sertoli-Leydig Cell Tumor	38
1152		PSR016	Psoriatic Juvenile Idiopathic Arthritis	38
1153		CPM001	Cap Myopathy	38
1154	P	PRD037	Periodontal Ehlers-Danlos Syndrome	38
1155	c	DYS119	Dystonia 9	38
1156		PDT035	Pediatric Systemic Lupus Erythematosus	38
1157		STR077	Streptococcal Toxic-Shock Syndrome	38
1158		HNZ004	Heinz Body Anemias	38
1159		SYN089	Syndromic X-Linked Intellectual Disability Snyder Type	38
1160	c	LNG096	Long Qt Syndrome 15	38
1161		PHS009	Phosphoglycerate Kinase Deficiency	38
1162	c	BRT038	Baraitser-Winter Syndrome 1	38
1163		47X003	47, Xxy	38
1164		DRC001	Dracunculiasis	38
1165		SML028	Semilobar Holoprosencephaly	38
1166		ASC009	Ascites, Chylous	38
1167	P	CMM008	Communicating Hydrocephalus	38
1168	P	BRN042	Branchiootic Syndrome	38
1169		LCT003	Lactocele	38
1170	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	38
1171	c	AML020	Amelogenesis Imperfecta, Type Iv	38
1172		BWN006	Bowen's Disease	38
1173		PST086	Posterior Cortical Atrophy	38
1174	P	KLN006	Koolen-De Vries Syndrome	38
1175	P	TRN016	Transient Hypogammaglobulinemia	38
1176	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	38
1177	c	FNC048	Fanconi Anemia, Complementation Group O	38
1178	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	38
1179	P	JVN042	Juvenile Retinoschisis	38
1180	c	CNR023	Cone-Rod Dystrophy 8	38
1181	P	MNN007	Meningocele	38
1182	c	FNC062	Fanconi Anemia, Complementation Group S	38
1183	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	38
1184	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	38
1185	c	SCP001	Sc Phocomelia Syndrome	38
1186	c	LSS006	Lissencephaly 2	38
1187		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	38
1188		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	38
1189	c	WRB005	Warburg Micro Syndrome 4	38
1190	P	CNG024	Congenital Nystagmus	38
1191		ALB014	Alobar Holoprosencephaly	37
1192		NTR007	Neutral Lipid Storage Disease with Myopathy	37
1193		HYP223	Hypoplastic Right Heart Syndrome	37
1194		SYN086	Synostoses, Tarsal, Carpal, and Digital	37
1195	c	MYC068	Myoclonic Epilepsy of Infancy	37
1196	c	SBC035	Subacute Cutaneous Lupus Erythematosus	37
1197		MDL020	Midline Interhemispheric Variant of Holoprosencephaly	37
1198	P	HVY001	Heavy Chain Disease	37
1199		PNM013	Pneumococcal Meningitis	37
1200	c	OST126	Osteopetrosis, Autosomal Recessive 1	37
1201	P	ANT061	Antenatal Bartter Syndrome	37
1202		ELS002	Elastosis Perforans Serpiginosa	37
1203	c	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	37
1204	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	37
1205	c	MNS014	Monosomy 22	37
1206	c	SPL070	Split-Hand/foot Malformation 2	37
1207		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	37
1208		SCR039	Scorpion Envenomation	37
1209	c	LKD008	Leukodystrophy, Hypomyelinating, 4	37
1210	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
1211	c	HYP581	Hypotrichosis 6	37
1212		DPH019	Diaphanospondylodysostosis	37
1213	c	NNN025	Noonan Syndrome 10	37
1214	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
1215	c	PRM032	Primary Congenital Glaucoma	37
1216	c	ADL019	Adult Fibrosarcoma	37
1217	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	37
1218	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	37
1219		RSP007	Respiratory Distress Syndrome, Infant	37
1220	c	CNR003	Cone-Rod Dystrophy 1	37
1221	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	37
1222		SLT014	Salt and Pepper Developmental Regression Syndrome	37
1223	c	CNR017	Cone-Rod Dystrophy 9	37
1224		HMN002	Human Granulocytic Anaplasmosis	37
1225		MLT028	Multiminicore Disease	37
1226	c	USH041	Usher Syndrome, Type if	37
1227	P	JVN008	Juvenile Glaucoma	37
1228		CND006	Candida Glabrata	37
1229		GLY032	Glycosylphosphatidylinositol Deficiency	37
1230	c	RTN136	Retinitis Pigmentosa 44	37
1231	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	37
1232		AGM004	Agammaglobulinemia, Non-Bruton Type	37
1233		CHL109	Childhood Apraxia of Speech	37
1234		THR017	Thoracoabdominal Syndrome	37
1235		MNT058	Mental Retardation, X-Linked, Syndromic, Turner Type	37
1236	c	RNG008	Ring Chromosome 13	37
1237		EPT021	Epithelial Recurrent Erosion Dystrophy	37
1238	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
1239	c	MCK014	Meckel Syndrome, Type 5	37
1240		DSN001	De Sanctis-Cacchione Syndrome	37
1241		MND025	Mandibulofacial Dysostosis with Alopecia	37
1242		SLP010	Slipped Capital Femoral Epiphysis	37
1243	c	MCR124	Microphthalmia, Isolated 1	37
1244		END014	Endemic Typhus	37
1245	c	INF092	Inflammatory Bowel Disease 9	37
1246		CRY032	Carey-Fineman-Ziter Syndrome	37
1247		SHW001	Shwartzman Phenomenon	37
1248		INT020	Intravenous Leiomyomatosis	37
1249	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	37
1250	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	37
1251	c	CTR103	Cataract 4, Multiple Types	37
1252		URM005	Uremic Pruritus	37
1253	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	37
1254		PHT008	Photosensitive Epilepsy	37
1255		INT258	Interstitial Nephritis, Karyomegalic	37
1256		ALP011	Alpha-Ketoglutarate Dehydrogenase Deficiency	37
1257		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	37
1258	P	SPS008	Spastic Ataxia	37
1259		MLG141	Malignant Atrophic Papulosis	37
1260		OHD005	Ohdo Syndrome, Sbbys Variant	37
1261		TXC020	Toxic Oil Syndrome	37
1262	c	GLY016	Glycogen Storage Disease Ib	37
1263	c	SPL033	Split-Hand/foot Malformation 6	37
1264	c	PRM149	Primary Hypereosinophilic Syndrome	37
1265	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	37
1266		PRL047	Prolonged Electroretinal Response Suppression	37
1267		DGT009	Digitotalar Dysmorphism	37
1268	c	RTN044	Retinitis Pigmentosa 14	37
1269		CHR518	Chromosome 9p Deletion Syndrome	37
1270	c	CNG513	Congenital Ptosis	37
1271	P	CRB154	Cerebrocostomandibular Syndrome	37
1272	c	LBR007	Leber Congenital Amaurosis 12	36
1273	c	BRD045	Bardet-Biedl Syndrome 19	36
1274		CRY019	Cryohydrocytosis	36
1275		NNL001	Non-Langerhans-Cell Histiocytosis	36
1276	c	RTN149	Retinitis Pigmentosa 42	36
1277		EMN001	Emanuel Syndrome	36
1278	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	36
1279		LPB001	Lipoblastoma	36
1280	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	36
1281		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	36
1282	c	RTN131	Retinitis Pigmentosa 27	36
1283	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	36
1284		SPN012	Spindle Cell Hemangioma	36
1285		VSD002	Vas Deferens, Congenital Bilateral Aplasia of	36
1286		ATY002	Atypical Choroid Plexus Papilloma	36
1287		TRS002	Tarsal-Carpal Coalition Syndrome	36
1288		LBR025	Lobar Holoprosencephaly	36
1289		RVL002	Ruvalcaba Syndrome	36
1290	c	HYP548	Hypogonadotropic Hypogonadism 2 with or Without Anosmia	36
1291		TRN012	Transient Global Amnesia	36
1292	c	CNR016	Cone-Rod Dystrophy 7	36
1293		CHR387	Chromosome Xp21 Deletion Syndrome	36
1294		LMB008	Limb-Mammary Syndrome	36
1295		BNB002	Bainbridge-Ropers Syndrome	36
1296	c	FNC059	Fanconi-Like Syndrome	36
1297	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	36
1298		CRB091	Cerebro-Oculo-Facio-Skeletal Syndrome	36
1299	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
1300	c	USH042	Usher Syndrome, Type Ig	36
1301	P	BNG002	Benign Meningioma	36
1302		PNC059	Punctate Inner Choroidopathy	36
1303	P	GLP001	Geleophysic Dysplasia	36
1304	c	WRD024	Waardenburg Syndrome, Type 4c	36
1305	c	CTR118	Cataract 14, Multiple Types	36
1306		EPP011	Epiphyseal Chondrodysplasia, Miura Type	36
1307	c	ZMM002	Zimmermann-Laband Syndrome 1	36
1308		NCT003	N-Acetylglutamate Synthase Deficiency	36
1309		MNC019	Monocarboxylate Transporter 1 Deficiency	36
1310	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
1311	c	LBR011	Leber Congenital Amaurosis 16	36
1312		SPR034	Superior Limbic Keratoconjunctivitis	36
1313	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
1314		SPN221	Spina Bifida Occulta	36
1315	P	MYC026	Myoclonus Epilepsy	36
1316	c	NRC010	Narcolepsy 2	36
1317		OCH001	Ochronosis	36
1318	P	DVL012	Developmental Dysplasia of the Hip 1	36
1319	c	WRB003	Warburg Micro Syndrome 2	36
1320		SNG007	Sengers Syndrome	36
1321	c	PST008	Posterior Scleritis	36
1322	c	NML006	Nemaline Myopathy 5	36
1323	c	ATM045	Autoimmune Glomerulonephritis	36
1324		ATH010	Athyreosis	36
1325		HNS001	Hansen's Disease	36
1326	P	DXT004	Dextro-Looped Transposition of the Great Arteries	36
1327		PRL042	Proliferating Trichilemmal Cyst	36
1328	c	ATS076	Autosomal Recessive Stickler Syndrome	36
1329		XNT002	Xanthogranulomatous Cholecystitis	36
1330	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	36
1331		XNT009	Xanthoma Disseminatum	36
1332	c	CTR170	Cataract 30, Multiple Types	36
1333	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	36
1334		OMS001	Omsk Hemorrhagic Fever	36
1335	c	SPR083	Sporadic Hemiplegic Migraine	36
1336		PYR040	Pyropoikilocytosis, Hereditary	36
1337		RTN135	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	36
1338	c	SPR094	Sporadic Pheochromocytoma	36
1339	c	RTN066	Retinitis Pigmentosa 4	36
1340		CLC008	Colchicine Resistance	36
1341	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	36
1342		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	36
1343	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	36
1344	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	36
1345		FST010	Fasting Hypoglycemia	36
1346	c	CTR115	Cataract 16, Multiple Types	35
1347	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	35
1348	c	FNC047	Fanconi Anemia, Complementation Group Q	35
1349	c	INF087	Inflammatory Bowel Disease 4	35
1350		LSS001	Loiasis	35
1351	c	CTR141	Cataract 21, Multiple Types	35
1352		ANG062	Angioosteohypertrophic Syndrome	35
1353	c	RTN186	Retinitis Pigmentosa 75	35
1354		MLT035	Multifocal Choroiditis	35
1355	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	35
1356	P	ECT002	Ectomesenchymoma	35
1357	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	35
1358	c	BRD047	Bardet-Biedl Syndrome 16	35
1359	c	RTN054	Retinitis Pigmentosa 25	35
1360		WRS002	Warsaw Breakage Syndrome	35
1361		IDP074	Idiopathic Bronchiectasis	35
1362	c	LNG056	Long Qt Syndrome 12	35
1363	c	PLM127	Pulmonary Hypertension, Primary, 3	35
1364		GRM010	Germ Cells Tumors	35
1365		LCH013	Lichen Planus Pemphigoides	35
1366		ARG001	Argentine Hemorrhagic Fever	35
1367		ODN005	Odontogenic Myxoma	35
1368		49X002	49,xxxxy Syndrome	35
1369		MCR103	Microtia	35
1370	c	NNN020	Noonan Syndrome 7	35
1371		GPS001	Gapo Syndrome	35
1372		OGD001	Ogden Syndrome	35
1373		ANG050	Angiocentric Glioma	35
1374	c	ANT023	Anterior Scleritis	35
1375		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	35
1376	c	SVR040	Severe Congenital Nemaline Myopathy	35
1377	P	MLT027	Multiple Mitochondrial Dysfunctions Syndrome	35
1378	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	35
1379		KGM001	Kagami-Ogata Syndrome	35
1380		NVS007	Nevus of Ota	35
1381		TKN001	Takenouchi-Kosaki Syndrome	35
1382		CRD016	Cardiac Rupture	35
1383		OPH002	Ophthalmia Neonatorum	35
1384	c	FNC058	Fanconi Anemia, Complementation Group R	35
1385	c	SPH017	Spherocytosis, Type 5	35
1386	c	TYP024	Type Ii Mixed Cryoglobulinemia	35
1387		SCL025	Scleromyxedema	35
1388	c	MYP079	Myopathy, Myofibrillar, 5	35
1389	P	SPS012	Spastic Paraplegia 3a	35
1390	c	MLG036	Malignant Spiradenoma	35
1391		CHR501	Chromosome 17q12 Deletion Syndrome	35
1392		INT104	Intravascular Papillary Endothelial Hyperplasia	35
1393		CLS049	Classic Phenylketonuria	35
1394	c	CTR122	Cataract 5, Multiple Types	35
1395	c	MLG157	Malignant Pheochromocytoma	35
1396	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	35
1397	c	SPN299	Spinocerebellar Ataxia 20	35
1398		PLY062	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy	35
1399		ATR048	Atrial Tachyarrhythmia with Short Pr Interval	35
1400	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	35
1401		CYT004	Cytomegalic Inclusion Disease	35
1402		CLD003	Cold-Induced Sweating Syndrome	35
1403		GMS001	Gemistocytic Astrocytoma	35
1404		PRT005	Protoplasmic Astrocytoma	35
1405		PRC051	Paracetamol Poisoning	35
1406	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	35
1407		SPS016	Spasmodic Dysphonia	35
1408	c	TRC078	Trichohepatoenteric Syndrome 2	35
1409	P	EPL003	Epulis	35
1410	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	35
1411		LGH012	Leigh Syndrome with Leukodystrophy	35
1412		PST063	Postsynaptic Congenital Myasthenic Syndromes	35
1413		PRM056	Primrose Syndrome	35
1414	P	HYP078	Hypertrophy of Breast	35
1415		PLR023	Polr3-Related Leukodystrophy	35
1416		MNC011	Minicore Myopathy with External Ophthalmoplegia	35
1417	P	HYP111	Hyperprolinemia	35
1418		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	35
1419		RTC010	Reticuloendotheliosis	35
1420	c	RTN047	Retinitis Pigmentosa 18	34
1421	c	RTN134	Retinitis Pigmentosa 40	34
1422		EMP011	Emphysema, Congenital Lobar	34
1423		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	34
1424	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	34
1425		HYP021	Hypercementosis	34
1426		SPS019	Spastic Paraparesis	34
1427	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	34
1428		ENG004	Engraftment Syndrome	34
1429		TRG019	Trigonocephaly with Short Stature and Developmental Delay	34
1430		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	34
1431	c	CNR013	Cone-Rod Dystrophy 12	34
1432		KSH001	Keshan Disease	34
1433	c	DYS067	Dystonia 6, Torsion	34
1434	c	HRD142	Hereditary Xanthinuria	34
1435		KNZ001	Kanzaki Disease	34
1436	c	FNC052	Fanconi Anemia, Complementation Group T	34
1437		NNS011	Nonseminomatous Germ Cell Tumor	34
1438	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	34
1439	c	SPN247	Spinocerebellar Ataxia Type 19/22	34
1440		ODN006	Odontoma	34
1441		PLM052	Pulmonary Arteriovenous Malformation	34
1442		CPP003	Cap Polyposis	34
1443		SCH071	Schaaf-Yang Syndrome	34
1444		MXD032	Mixed Germ Cell Tumor	34
1445	c	SYS043	Systemic Lupus Erythematosus 1	34
1446	c	RTN050	Retinitis Pigmentosa 20	34
1447	c	CNG195	Congenital Disorder of Glycosylation, Type Id	34
1448		CMP040	Complement Component 4, Partial Deficiency of	34
1449		CRN141	Corneal Dystrophy, Reis-Bucklers Type	34
1450	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	34
1451	c	JVN038	Juvenile Myasthenia Gravis	34
1452		CHR659	Chromosome 22q11.2 Duplication Syndrome	34
1453	P	MYS032	Myosin Storage Myopathy	34
1454		MTC008	Mitochondrial Complex Iii Deficiency	34
1455	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	34
1456		LCL022	Localized Lipodystrophy	34
1457		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	34
1458	c	RTN042	Retinitis Pigmentosa 12	34
1459		CNS013	Constricting Bands, Congenital	34
1460	P	MXD016	Mixed Gonadal Dysgenesis	34
1461	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
1462	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	34
1463		FLT009	Folate Malabsorption, Hereditary	34
1464		CHL078	Childhood-Onset Schizophrenia	34
1465		MYC014	Mycobacterium Chelonae	34
1466		INF046	Infantile Digital Fibromatosis	34
1467	P	SYN059	Syndactyly, Type V	34
1468		MSC020	Mosaic Trisomy 8	34
1469		PHS022	Phosphoserine Phosphatase Deficiency	34
1470		MLG120	Malignant Migrating Partial Seizures of Infancy	34
1471		PLT007	Palatopharyngeal Incompetence	34
1472	P	NNT042	Neonatal Lupus Erythematosus	34
1473		INT276	Interatrial Communication	34
1474	c	SPL025	Split-Hand/foot Malformation 5	34
1475		PLM151	Pulmonary Arteriovenous Fistulas	34
1476		EPT003	Epithelioid Trophoblastic Tumor	34
1477	c	RTN165	Retinitis Pigmentosa 68	34
1478	c	OVR075	Ovarian Dysgenesis 1	34
1479		JBR005	Joubert Syndrome with Ocular Anomalies	34
1480	c	RTN051	Retinitis Pigmentosa 22	34
1481		TMP012	Temple Syndrome	34
1482		HRS011	Horseshoe Kidney	34
1483	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	34
1484		ACR043	Acromicric Dysplasia	34
1485		CRB081	Cerebellar Ataxia, Cayman Type	34
1486		FCH002	Fuchs' Heterochromic Uveitis	34
1487		TRP006	Tarp Syndrome	34
1488		SPS004	Spastic Quadriplegia	34
1489	c	HLP028	Holoprosencephaly 5	34
1490		KLL014	Kelley-Seegmiller Syndrome	34
1491		CRN212	Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome	34
1492	c	SYN061	Syndactyly, Type Iv	34
1493	c	ZLL011	Zellweger Spectrum Disorder	34
1494	P	CXV002	Coxa Vara	34
1495	c	MYS011	Myasthenia Gravis Congenital	33
1496		CHR033	Chordoid Glioma	33
1497		DYS030	Dysferlinopathy	33
1498		INF159	Infantile Sialic Acid Storage Disease	33
1499	c	RTN055	Retinitis Pigmentosa 26	33
1500	c	RNG020	Ring Chromosome 4	33
1501	c	THY084	Thyrotoxic Periodic Paralysis 1	33
1502	c	WRD010	Waardenburg Syndrome Type 4	33
1503		IDP041	Idiopathic Recurrent Pericarditis	33
1504	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	33
1505	c	HYP603	Hyperoxaluria, Primary, Type Iii	33
1506	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
1507	c	GLY057	Glycogen Storage Disease X	33
1508		48X003	48,xxyy Syndrome	33
1509	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	33
1510	c	MGR030	Migraine, Familial Hemiplegic, 2	33
1511		PRT049	Partial Deletion of Y	33
1512		TRP020	Tropical Endomyocardial Fibrosis	33
1513		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	33
1514		MYC088	Mycobacterium Avium Complex Infections	33
1515	c	HRD173	Hereditary Late-Onset Parkinson Disease	33
1516	c	ACT047	Acute Endophthalmitis	33
1517	P	3MT007	3-Methylglutaconic Aciduria	33
1518		PRN022	Perineurioma	33
1519	c	MLG133	Malignant Ectomesenchymoma	33
1520	c	CHR091	Chronic Meningitis	33
1521	c	FNC056	Fanconi Anemia, Complementation Group V	33
1522		FSR001	Fusariosis	33
1523		MYC015	Mycobacterium Fortuitum	33
1524	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	33
1525		BYS001	Byssinosis	33
1526	c	CTR125	Cataract 7	33
1527	c	MYT027	Myotonia Congenita, Autosomal Dominant	33
1528		EXN003	Exencephaly	33
1529		LPG001	Lipogranulomatosis	33
1530		PRM050	Primary Orthostatic Tremor	33
1531		TRM011	Terminal Osseous Dysplasia	33
1532		PYR016	Pyridoxine Deficiency	33
1533		SRC015	Sarcosinemia	33
1534		CRN273	Corneal Dystrophy, Subepithelial Mucinous	33
1535	c	DMN021	Diamond-Blackfan Anemia 6	33
1536		MYP064	Myopericytoma	33
1537	c	ICH023	Ichthyosis, Acquired	33
1538		PPC001	Pepck 1 Deficiency	33
1539	c	CNG020	Congenital Hypogammaglobulinemia	33
1540		OSC001	Oeis Complex	33
1541		BLP004	Blepharophimosis	33
1542	c	ORT011	Orthostatic Hypotension 1	33
1543	c	HYP562	Hypothyroidism, Congenital, Nongoitrous, 6	33
1544	c	CRN109	Cranioectodermal Dysplasia 2	33
1545		ENC014	Enchondroma	33
1546	c	PRK093	Parkinson Disease 8, Autosomal Dominant	33
1547	P	RTS001	Ritscher-Schinzel Syndrome	33
1548		UND007	Undifferentiated Connective Tissue Disease	33
1549	c	BRD019	Bardet-Biedl Syndrome 7	33
1550	c	MCK034	Meckel Syndrome, Type 8	33
1551		FLL042	Folliculotropic Mycosis Fungoides	33
1552	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	33
1553		PHS014	Phosphoglycerate Kinase 1 Deficiency	33
1554	c	NNS043	Nonsyndromic Retinitis Pigmentosa	33
1555	c	MCR251	Microphthalmia, Syndromic 6	33
1556		MYC019	Mycobacterium Marinum	33
1557	c	KLF004	Kleefstra Syndrome 1	33
1558	c	BST008	Bestrophinopathy, Autosomal Recessive	33
1559		MTG001	Metagonimiasis	33
1560		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	33
1561	P	UNC017	Uncombable Hair Syndrome 1	33
1562	c	CTR145	Cataract 44	33
1563		CHR377	Chromosome 10q26 Deletion Syndrome	33
1564	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
1565		MLG143	Malignant Hyperthermia of Anesthesia	33
1566		BRC004	Brachydactyly-Syndactyly Syndrome	33
1567	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	33
1568	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	33
1569		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	33
1570		MDM001	Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency	33
1571	c	SPN099	Spinocerebellar Ataxia 26	33
1572		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	33
1573	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
1574	c	GLP003	Geleophysic Dysplasia 1	33
1575		FRN020	Frontal Fibrosing Alopecia	33
1576	c	AML057	Amelogenesis Imperfecta, Type Iiia	33
1577	c	SPS036	Spastic Paraplegia 3	33
1578		NNT039	Neonatal Marfan Syndrome	33
1579	c	CTR096	Cataract 6, Multiple Types	33
1580		PLY036	Polyembryoma	33
1581		GBT001	Gaba-Transaminase Deficiency	33
1582	P	WRB001	Warburg Micro Syndrome	32
1583	c	BRT052	Bartter Syndrome, Type 1, Antenatal	32
1584		HYM001	Hymenolepiasis	32
1585		MYL074	Myelodysplastic Syndrome with Excess Blasts	32
1586		ANR010	Aneurysm of Sinus of Valsalva	32
1587		CYC002	Cyclosporiasis	32
1588		RTN072	Retinohepatoendocrinologic Syndrome	32
1589	c	RTN067	Retinitis Pigmentosa 41	32
1590		SRC011	Sarcocystosis	32
1591		SPT016	Septopreoptic Holoprosencephaly	32
1592	c	RTN062	Retinitis Pigmentosa 33	32
1593	c	LPR022	Leprosy 2	32
1594		CLC010	Calcifying Epithelial Odontogenic Tumor	32
1595		CHR247	Chromosome 4p Deletion	32
1596		CRN274	Corneal Dystrophy, Posterior Amorphous	32
1597		MYC018	Mycobacterium Malmoense	32
1598	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	32
1599	c	HYP515	Hypotrichosis 3	32
1600		MNC002	Munchausen by Proxy	32
1601		CHR582	Chromosome 3q29 Duplication Syndrome	32
1602	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	32
1603	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	32
1604	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	32
1605		CTN019	Cutaneous Polyarteritis Nodosa	32
1606	c	EPL133	Epilepsy, Juvenile Absence 1	32
1607		MCR096	Macrocephaly/autism Syndrome	32
1608	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	32
1609		OLV004	Oliver-Mcfarlane Syndrome	32
1610		ANH001	Ainhum	32
1611		IDP031	Idiopathic Hypersomnia	32
1612		GNT019	Giant Cell Myocarditis	32
1613	c	CND011	Cone Dystrophy 3	32
1614	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	32
1615		OVR097	Ovarian Fibrothecoma	32
1616	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	32
1617		CYS011	Cystoisosporiasis	32
1618		DST008	Diastematomyelia	32
1619		CMB020	Combined Saposin Deficiency	32
1620		WDH003	Woodhouse-Sakati Syndrome	32
1621	c	INF031	Inflammatory Leiomyosarcoma	32
1622		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	32
1623	P	HYP700	Hypomyelinating Leukodystrophy	32
1624	c	RBN008	Rubinstein-Taybi Syndrome 2	32
1625		CRN285	Corneal Dystrophy, Fleck	32
1626	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	32
1627		PRX009	Paroxysmal Hemicrania	32
1628		STT009	Sutton Disease 2	32
1629		HSD004	Hsd10 Mitochondrial Disease	32
1630	c	SYN084	Synpolydactyly 1	32
1631		DSS025	Dissociative Seizures	32
1632	c	CNG198	Congenital Disorder of Glycosylation, Type Il	32
1633	P	EPL198	Epilepsy, Myoclonic Juvenile	32
1634	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	32
1635	c	WLL036	Weill-Marchesani Syndrome 1	32
1636	c	HYP716	Hypermanganesemia with Dystonia 1	32
1637	c	RTN133	Retinitis Pigmentosa 43	32
1638	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	32
1639	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	32
1640		OCL039	Oculoectodermal Syndrome	32
1641	P	BRW001	Brown-Vialetto-Van Laere Syndrome	32
1642		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	32
1643	c	HYP525	Hypotrichosis 2	32
1644		TRC035	Tracheal Agenesis	32
1645	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	32
1646	P	PLY148	Polydactyly, Preaxial Ii	32
1647	c	CNG199	Congenital Disorder of Glycosylation, Type Im	32
1648	c	PRX060	Peroxisome Biogenesis Disorder 5a	32
1649		NGL001	Naegeli-Franceschetti-Jadassohn Syndrome	32
1650	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	32
1651		MLR023	Melorheostosis, Isolated	32
1652	P	NNS031	Non-Syndromic Intellectual Disability	32
1653	c	PRP091	Porphyria Cutanea Tarda, Type I	32
1654	c	MTR051	Maternal Uniparental Disomy of Chromosome 1	32
1655	c	HMC034	Hemochromatosis, Type 5	32
1656	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	32
1657		SDR009	Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay	31
1658	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	31
1659	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
1660	c	RTN046	Retinitis Pigmentosa 17	31
1661	c	MCR329	Microcephaly, Autosomal Dominant	31
1662	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	31
1663		ESN009	Eosinophil Peroxidase Deficiency	31
1664		PRT048	Partial Atrioventricular Canal	31
1665	c	GLP004	Geleophysic Dysplasia 2	31
1666	c	RTN068	Retinitis Pigmentosa 6	31
1667	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	31
1668	P	LTH003	Lethal Congenital Contracture Syndrome	31
1669		PRN029	Parainfluenza Virus Type 3	31
1670	c	EPS037	Episodic Ataxia, Type 4	31
1671		PRG023	Progeroid Short Stature with Pigmented Nevi	31
1672		CHL107	Childhood-Onset Nemaline Myopathy	31
1673	c	BRG007	Brugada Syndrome 5	31
1674		LCH014	Lichen Amyloidosis	31
1675	c	GNR039	Generalized Epilepsy with Febrile Seizures Plus, Type 2	31
1676		SCL022	Scleredema	31
1677		ALP048	Alopecia Totalis	31
1678	P	CRN249	Cornea Plana	31
1679	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	31
1680		PRD012	Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis	31
1681	c	INT274	Intermediate Congenital Nemaline Myopathy	31
1682	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	31
1683		LMB010	Lambert Syndrome	31
1684	c	RTN059	Retinitis Pigmentosa 30	31
1685	c	RNG018	Ring Chromosome 22	31
1686		HYP806	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	31
1687		SVN002	Sveinsson Chorioretinal Atrophy	31
1688	c	RTN064	Retinitis Pigmentosa 35	31
1689	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	31
1690	c	CNG188	Congenital Disorder of Glycosylation, Type if	31
1691		TTR012	Tetrasomy 9p	31
1692		OCL063	Oculopharyngodistal Myopathy	31
1693	c	CCK002	Cockayne Syndrome Type I	31
1694	P	HRD144	Hereditary Mixed Polyposis Syndrome	31
1695	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	31
1696		DFC001	Defective Apolipoprotein B-100	31
1697	c	PRK071	Parkinson Disease 14, Autosomal Recessive	31
1698	P	MTP005	Metaphyseal Anadysplasia	31
1699	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
1700	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	31
1701		MTP028	Metaphyseal Dysplasia, Spahr Type	31
1702		ISL062	Isolated Plagiocephaly	31
1703	c	RTN056	Retinitis Pigmentosa 28	31
1704	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	31
1705		TBL025	Tubulointerstitial Nephritis with Uveitis	31
1706	c	RTN116	Retinitis Pigmentosa 56	31
1707	c	CNT101	Central Congenital Hypothyroidism	31
1708		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	31
1709		ALG027	Al-Gazali-Bakalinova Syndrome	31
1710	P	ACR106	Acrocephalopolysyndactyly Type Iii	31
1711		CNT057	Central Centrifugal Cicatricial Alopecia	31
1712	c	AML017	Amelogenesis Imperfecta, Type Ib	31
1713		NKJ001	Nakajo Syndrome	31
1714		ATY016	Atypical Werner Syndrome	31
1715	c	RTN129	Retinitis Pigmentosa 49	31
1716		MCR099	Microlissencephaly	31
1717		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	31
1718	c	ACQ027	Acquired Cutis Laxa	31
1719	c	ACR081	Aicardi-Goutieres Syndrome 6	31
1720	c	INF086	Inflammatory Bowel Disease 3	31
1721		LRY022	Laryngoonychocutaneous Syndrome	31
1722		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	31
1723	c	DYS059	Dystonia 16	31
1724	c	CNR006	Cone-Rod Dystrophy 5	31
1725	c	AMY089	Amyotrophic Lateral Sclerosis 7	31
1726	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	31
1727		DRF001	Dirofilariasis	31
1728	P	FRS004	Free Sialic Acid Storage Disorders	31
1729	c	RTN152	Retinitis Pigmentosa 66	31
1730		PRP038	Properdin Deficiency, X-Linked	31
1731	P	CRB188	Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy	31
1732		SNG003	Single Ventricular Heart	31
1733		ALZ030	Alazami Syndrome	31
1734	c	RTN169	Retinitis Pigmentosa 70	31
1735	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	31
1736	c	CTR158	Cataract 37	31
1737		SPN125	Spondyloenchondrodysplasia	31
1738		RHM034	Rahman Syndrome	31
1739	c	SCK010	Seckel Syndrome 4	31
1740	c	NGH025	Night Blindness, Congenital Stationary, Type 2a	31
1741		MLD010	Mild Phenylketonuria	31
1742		ANP007	Anaplastic Ganglioglioma	31
1743	c	MTC116	Mitochondrial Myopathy, Infantile, Transient	30
1744		PDT027	Pediatric Ulcerative Colitis	30
1745	c	INF089	Inflammatory Bowel Disease 6	30
1746	c	PLZ002	Pelizaeus-Merzbacher-Like Disease	30
1747		PNL002	Pineal Parenchymal Tumor of Intermediate Differentiation	30
1748	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	30
1749	P	DSB002	Desbuquois Dysplasia	30
1750		RFR013	Refractory Celiac Disease	30
1751		NRM009	Normokalemic Periodic Paralysis	30
1752		NRN022	Neurenteric Cyst	30
1753		HMF010	Hemifacial Microsomia with Radial Defects	30
1754	c	HYP531	Hypogonadotropic Hypogonadism 4 with or Without Anosmia	30
1755	P	ACT232	Acute Necrotizing Encephalopathy	30
1756	c	SPS021	Spastic Paraplegia 10	30
1757		UND011	Undetermined Early-Onset Epileptic Encephalopathy	30
1758	c	MYP080	Myopathy, Myofibrillar, 4	30
1759		PLM049	Plummer Vinson Syndrome	30
1760	c	PRX056	Peroxisome Biogenesis Disorder 11b	30
1761	c	THY083	Thyrotoxic Periodic Paralysis 2	30
1762	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	30
1763	c	SCK011	Seckel Syndrome 5	30
1764	c	CTR129	Cataract 31, Multiple Types	30
1765	c	SCH082	Schizophrenia 5	30
1766	P	ADL037	Adult Xanthogranuloma	30
1767	c	RTN114	Retinitis Pigmentosa 58	30
1768	c	PLM128	Pulmonary Hypertension, Primary, 2	30
1769	c	CTR095	Cataract 8, Multiple Types	30
1770		TYP026	Typical Congenital Nemaline Myopathy	30
1771	c	CNR005	Cone-Rod Dystrophy 3	30
1772	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	30
1773		EF001	Eaf	30
1774		SRN002	Sirenomelia	30
1775		PKL002	Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis	30
1776		GRN005	Granuloma Inguinale	30
1777		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	30
1778	c	LBR013	Leber Congenital Amaurosis 3	30
1779		MTH077	Methylmalonic Aciduria, Cbla Type	30
1780		MST020	Mast Cell Activation Syndrome	30
1781		PST103	Postpartum Psychosis	30
1782	P	VNM004	Van Maldergem Syndrome	30
1783	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	30
1784	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	30
1785	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	30
1786	c	ELL005	Elliptocytosis 2	30
1787	c	SPN098	Spinocerebellar Ataxia 25	30
1788		WLD005	Wild Type Attr Amyloidosis	30
1789		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	30
1790		LPD026	Lipedema	30
1791	c	CTR174	Cataract 40	30
1792		ISL109	Isolated Cleft Lip	30
1793		MYP097	Myopathy with Lactic Acidosis, Hereditary	30
1794		PMP009	Pemphigus Erythematosus	30
1795		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	30
1796		HLP004	Holoprosencephaly, Recurrent Infections, and Monocytosis	30
1797	c	RTN210	Retinitis Pigmentosa 50	30
1798		ACT228	Acute Radiation Syndrome	30
1799		PHS023	Phosphoserine Aminotransferase Deficiency	30
1800	c	ERY062	Erythrokeratodermia Variabilis Et Progressiva 5	30
1801	c	DYS139	Dyschromatosis Universalis Hereditaria 3	30
1802		RST024	Rosette-Forming Glioneuronal Tumor	30
1803	c	RTN057	Retinitis Pigmentosa 29	30
1804	c	USH031	Usher Syndrome, Type Ij	30
1805	c	HRM020	Hermansky-Pudlak Syndrome 10	30
1806		AP4001	Ap-4-Associated Hereditary Spastic Paraplegia	30
1807	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	30
1808	c	STC013	Stickler Syndrome, Type Ii	30
1809		KLB004	Klebsiella Infection	30
1810		DPH003	Diphyllobothriasis	30
1811		MSC021	Mosaic Trisomy 9	30
1812		24D001	2,4-Dienoyl-Coa Reductase Deficiency	30
1813		CMP035	Complete Atrioventricular Canal	30
1814	c	MYS067	Myasthenic Syndrome, Congenital, 22	30
1815	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	30
1816		3MT011	3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	30
1817	c	RTN171	Retinitis Pigmentosa 59	30
1818		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	30
1819	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	30
1820	c	DSB005	Desbuquois Dysplasia 2	30
1821	c	GLY017	Glycogen Storage Disease Ic	30
1822		GLY022	Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency	30
1823	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	30
1824	c	OST120	Osteopetrosis, Autosomal Recessive 5	30
1825	c	EPS015	Episodic Ataxia, Type 7	30
1826	c	HYP577	Hypotrichosis 13	30
1827		ASH001	Asherman's Syndrome	30
1828		DRR013	Diarrhea 8, Secretory Sodium, Congenital	30
1829	c	RNG029	Ring Chromosome 14 Syndrome	30
1830		STN013	Stenotrophomonas Maltophilia Infection	30
1831		PSD040	Pseudomyotonia	30
1832	c	EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	30
1833	c	WLL037	Weill-Marchesani Syndrome 2	30
1834	c	ATS210	Autosomal Recessive Sideroblastic Anemia	30
1835	c	DYS146	Dystonia 24	29
1836	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
1837	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	29
1838		RBS005	Ribose 5-Phosphate Isomerase Deficiency	29
1839		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	29
1840		SCH060	Schistosoma Mansoni Infection, Susceptibility/	29
1841		WRF003	Warfarin Syndrome	29
1842		49X001	49, Xxxxx	29
1843	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	29
1844	c	MCL043	Macular Degeneration, Age-Related, 2	29
1845	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	29
1846		CNG134	Congenitally Corrected Transposition of the Great Arteries	29
1847	c	HYP565	Hypogonadotropic Hypogonadism 3 with or Without Anosmia	29
1848		MXL016	Maxillonasal Dysplasia, Binder Type	29
1849		KYS001	Kyasanur Forest Disease	29
1850		MTC019	Metachromatic Leukodystrophy Due to Saposin B Deficiency	29
1851	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	29
1852	c	B4G002	B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	29
1853		CHR590	Chromosome 15q11-Q13 Duplication Syndrome	29
1854	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
1855		UNV002	Univentricular Heart	29
1856	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	29
1857		FBR064	Febrile Infection-Related Epilepsy Syndrome	29
1858		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	29
1859		QNQ001	Quinquaud's Decalvans Folliculitis	29
1860	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	29
1861		FBR028	Fibrosing Mediastinitis	29
1862	c	TYP010	Type C Thymoma	29
1863		PCT001	Pectus Carinatum	29
1864		PTT016	Patterson Pseudoleprechaunism Syndrome	29
1865	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	29
1866		GLT028	Glutaric Aciduria Iii	29
1867		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	29
1868		ISL096	Isolated Klippel-Feil Syndrome	29
1869		KRT020	Keratoconus Posticus Circumscriptus	29
1870	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	29
1871	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
1872		6PH001	6-Phosphogluconate Dehydrogenase Deficiency	29
1873	P	CRY006	Cryofibrinogenemia	29
1874		STL007	Steel Syndrome	29
1875		GYN003	Gynandroblastoma	29
1876	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	29
1877	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
1878		CRN264	Craniosynostosis with Fibular Aplasia	29
1879	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
1880		MCR183	Microcephaly-Capillary Malformation Syndrome	29
1881		PSD046	Pseudotrisomy 13 Syndrome	29
1882		ACR004	Acrokeratosis Verruciformis	29
1883	c	PRX050	Peroxisome Biogenesis Disorder 9b	29
1884		HYP682	Hypertelorism, Teebi Type	29
1885		ANP008	Anaplastic Oligoastrocytoma	29
1886	P	VTR008	Vitreoretinal Degeneration	29
1887		IDP034	Idiopathic Central Precocious Puberty	29
1888		CDL005	Caudal Duplication Anomaly	29
1889	P	STR035	Streptococcal Group a Invasive Disease	29
1890	c	PRX048	Peroxisome Biogenesis Disorder 10a	29
1891		INN003	Iniencephaly	29
1892	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	29
1893	P	SPS225	Spastic Paralysis, Infantile-Onset Ascending	29
1894		PRP093	Pierpont Syndrome	29
1895	c	USH030	Usher Syndrome, Type Ik	29
1896	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	29
1897		GLY078	Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency	29
1898	c	MCL059	Macular Dystrophy, Patterned, 1	29
1899	c	RNG017	Ring Chromosome 21	29
1900	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
1901		GLT005	Glutamate Formiminotransferase Deficiency	29
1902		TTT001	Tatton-Brown-Rahman Syndrome	29
1903	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	29
1904		RNG003	Ring Dermoid of Cornea	29
1905		CLV004	Calvarial Hyperostosis	29
1906	c	PLY149	Polydactyly, Preaxial Iv	29
1907	P	ATX039	Ataxia-Pancytopenia Syndrome	29
1908	c	MLG039	Malignant Essential Hypertension	29
1909	P	ACT241	Acute Bilirubin Encephalopathy	29
1910	c	OMD001	Omodysplasia 1	29
1911	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	29
1912		END051	Endolymphatic Sac Tumor	29
1913		RDC010	Reducing Body Myopathy	29
1914		BRN133	Bronchomalacia	29
1915		PDT040	Pediatric Hypertension	29
1916		PTY004	Pityriasis Lichenoides	29
1917	c	PLY136	Polydactyly, Preaxial I	29
1918	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	29
1919	P	SCL047	Sclerocornea	29
1920	c	MYP106	Myopathy, Myosin Storage, Autosomal Recessive	29
1921	c	LBR009	Leber Congenital Amaurosis 14	29
1922	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	29
1923		ACT094	Acute Articular Rheumatism	29
1924		SPN340	Spontaneous Intracranial Hypotension	29
1925	c	ERL012	Early-Onset Glaucoma	29
1926		SDN002	Sudanophilic Cerebral Sclerosis	29
1927	c	RTN036	Retinal Cone Dystrophy 4	29
1928		CRB147	Cerebellofaciodental Syndrome	29
1929	c	PRX051	Peroxisome Biogenesis Disorder 6a	29
1930	c	ALP039	Alopecia Areata 1	29
1931	c	RNG022	Ring Chromosome 6	29
1932	P	OVR076	Ovarian Dysgenesis 2	29
1933		KLB005	Kleeblattschaedel	28
1934		PYR021	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	28
1935	c	PLM121	Pulmonary Hypertension, Primary, 4	28
1936	c	INF088	Inflammatory Bowel Disease 5	28
1937		PRK066	Parkinsonism with Spasticity, X-Linked	28
1938	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	28
1939	c	CNR039	Cone-Rod Dystrophy, X-Linked, 2	28
1940	c	GLY043	Glycogen Storage Disease Xii	28
1941	P	TRS029	Trisomy 1q	28
1942	c	BRT039	Baraitser-Winter Syndrome 2	28
1943	c	MCR252	Microphthalmia, Syndromic 5	28
1944	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	28
1945		ATY003	Atypical Autism	28
1946		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	28
1947	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	28
1948		GGN004	Gigantomastia	28
1949		WLD004	Wildervanck Syndrome	28
1950	c	EPL210	Epilepsy, Progressive Myoclonic, 6	28
1951	c	RTN032	Retinal Cone Dystrophy 1	28
1952	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
1953		CRL006	Caroli Disease, Isolated	28
1954	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	28
1955		MTH047	Methanol Poisoning	28
1956	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	28
1957		PRX034	Peroxisome Disorders	28
1958	c	ANR046	Aniridia 3	28
1959		CRT020	Cortisone Reductase Deficiency	28
1960		UVL009	Uvula, Bifid	28
1961	c	GLL040	Galloway-Mowat Syndrome 3	28
1962		MSM016	Mesomelic Dysplasia, Kantaputra Type	28
1963		BNG069	Benign Cephalic Histiocytosis	28
1964	c	RTN106	Retinitis Pigmentosa 51	28
1965	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	28
1966	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	28
1967		PMP008	Pemphigus Vegetans	28
1968	c	JVN047	Juvenile Spondyloarthropathy	28
1969		HGH020	High Molecular Weight Kininogen Deficiency	28
1970	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	28
1971		EXR007	Exercise-Induced Anaphylaxis	28
1972		HMR015	Humeroradial Synostosis	28
1973		THY042	Thymic Epithelial Tumor	28
1974		MNG007	Manganese Poisoning	28
1975	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	28
1976	c	ACQ047	Acquired Methemoglobinemia	28
1977		NTR011	Neutrophil-Specific Granule Deficiency	28
1978	c	PRX054	Peroxisome Biogenesis Disorder 12a	28
1979	P	KLZ004	Kala-Azar 1	28
1980		PRN035	Perniosis	28
1981	c	RTN146	Retinitis Pigmentosa 62	28
1982	c	FRN033	Frontonasal Dysplasia 2	28
1983	c	ELL010	Elliptocytosis 1	28
1984	c	RTN052	Retinitis Pigmentosa 23	28
1985		CLS047	Classic Progressive Supranuclear Palsy Syndrome	28
1986		CBB002	Cobb Syndrome	28
1987		FRN022	Frontofacionasal Dysplasia	28
1988		SCR024	Sacrococcygeal Teratoma	28
1989	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
1990	c	RTN190	Retinitis Pigmentosa 76	28
1991		SLT005	Solitary Median Maxillary Central Incisor	28
1992	c	46X049	46,xy Sex Reversal 2	28
1993		PNT003	Pinta Disease	28
1994		ESN016	Eosinophilic Pustular Folliculitis	28
1995	c	SCH080	Schizophrenia 3	28
1996	P	STR092	Striatal Degeneration, Autosomal Dominant 2	28
1997	c	INF019	Infectious Anterior Uveitis	28
1998		SPR038	Supranuclear Ocular Palsy	28
1999	c	DMN017	Diamond-Blackfan Anemia 10	28
2000		OCL040	Oculomaxillofacial Dysostosis	28
2001		LCT017	Lactate Dehydrogenase B Deficiency	28
2002	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	28
2003		TTR014	Tetrasomy 18p	28
2004	c	RNG015	Ring Chromosome 2	28
2005		MYT026	Myotonia Atrophica	28
2006	c	ATS307	Autosomal Recessive Cerebellar Ataxia	28
2007	c	RNG007	Ring Chromosome 12	28
2008	c	SPN286	Spinocerebellar Ataxia 40	28
2009		CRD017	Cardiac Valvular Dysplasia, X-Linked	28
2010		WTT002	Witteveen-Kolk Syndrome	28
2011	c	ART104	Arthrogryposis, Distal, Type 5d	28
2012		VND005	Van Den Ende-Gupta Syndrome	28
2013		FRS007	Frias Syndrome	28
2014		CHR225	Chromosome 1q21.1 Duplication Syndrome	28
2015	c	PNT039	Pontocerebellar Hypoplasia, Type 7	28
2016	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	28
2017		RHM015	Rhombencephalosynapsis	28
2018		FLP001	Filippi Syndrome	28
2019	c	HRD186	Hereditary Spastic Paraplegia 51	28
2020		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	28
2021	c	MCL078	Macular Degeneration, Age-Related, 14	28
2022	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	28
2023	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
2024	c	MTC074	Metachromatic Leukodystrophy, Adult Form	28
2025		HYP059	Hypertelorism, Microtia, Facial Clefting Syndrome	28
2026	c	ALB017	Albinism, Oculocutaneous, Type Vi	28
2027	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	28
2028		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	28
2029	c	ANT083	Anterior Segment Dysgenesis 7	28
2030		LNR004	Linear Porokeratosis	28
2031		CRN235	Corneal Dystrophy, Groenouw Type I	28
2032	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	28
2033		MCR039	Macrophagic Myofasciitis	28
2034	c	SYM022	Symphalangism, Proximal, 1a	28
2035	c	BRD021	Bardet-Biedl Syndrome 9	28
2036	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
2037		ATR088	Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects	28
2038		CLF028	Cleft Soft Palate	28
2039		PRT086	Partial Hydatidiform Mole	27
2040	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	27
2041	P	SCP010	Scapuloperoneal Myopathy	27
2042		HYP679	Hypoglossia-Hypodactylia	27
2043	c	LNG098	Long Qt Syndrome 14	27
2044		HYP728	Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia	27
2045		CLF046	Cleft Lip/palate with Abnormal Thumbs and Microcephaly	27
2046	c	LYS020	Loeys-Dietz Syndrome 5	27
2047	c	BRN128	Branchiootic Syndrome 3	27
2048	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	27
2049		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	27
2050		TRC007	Tricuspid Valve Prolapse	27
2051	c	THR069	Three M Syndrome 2	27
2052	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
2053		ATY022	Atypical Coarctation of Aorta	27
2054	c	CTR175	Cataract 24	27
2055		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	27
2056		PSD043	Pseudopelade of Brocq	27
2057	c	EPL155	Epilepsy, Progressive Myoclonic, 8	27
2058		PSY012	Psychogenic Movement	27
2059	c	AMY055	Amyotrophic Lateral Sclerosis 17	27
2060	c	FML306	Familial or Sporadic Hemiplegic Migraine	27
2061		HMC001	Homocarnosinosis	27
2062		HRY005	Hairy Elbows	27
2063	c	RNG010	Ring Chromosome 15	27
2064	c	MCR245	Microphthalmia, Syndromic 8	27
2065		MYP093	Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset	27
2066	c	OTF003	Otofaciocervical Syndrome 2	27
2067		XLN206	X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	27
2068		SPR108	Suprabulbar Paresis, Congenital	27
2069		ANK010	Ankylostomiasis	27
2070		PTC005	Pituicytoma	27
2071	c	MCK028	Meckel Syndrome 13	27
2072		TBL008	Tibial Hemimelia	27
2073		DSR012	Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency	27
2074		ACR099	Acrofacial Dysostosis, Catania Type	27
2075	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	27
2076	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	27
2077	c	NPH102	Nephrotic Syndrome, Type 14	27
2078		PHS010	Phosphoglycerate Mutase Deficiency	27
2079	c	JVN034	Juvenile Polyposis of Infancy	27
2080	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	27
2081	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	27
2082		CHR265	Chromosome 8p Duplication	27
2083	c	DBT054	Diabetes Mellitus, Insulin-Dependent, 24	27
2084	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	27
2085	c	BRD050	Bardet-Biedl Syndrome 21	27
2086		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	27
2087	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	27
2088		CRY024	Crystal Arthropathies	27
2089		MYC021	Mycobacterium Xenopi	27
2090	c	MGR031	Migraine, Familial Hemiplegic, 3	27
2091	c	MYP105	Myopathy, Myosin Storage, Autosomal Dominant	27
2092		TTR013	Tetrasomy X	27
2093	c	CRS017	Crisponi/cold-Induced Sweating Syndrome 2	27
2094		DGT002	Digital Clubbing, Isolated Congenital	27
2095		LDD006	Ledderhose Disease	27
2096		GLD003	Goldmann-Favre Syndrome	27