Rare Diseases Category (14365 diseases)

Including: rare
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		FRG013	Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)	19
2	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	81
3	c	NRF023	Neurofibromatosis, Type Ii	80
4		PFF001	Pfeiffer Syndrome	79
5	P	PRK057	Parkinson Disease, Late-Onset	78
6	P	LYN001	Lynch Syndrome	77
7		PHN003	Phenylketonuria	75
8	c	ART115	Aortic Valve Disease 1	75
9	P	APL001	Aplastic Anemia	74
10	c	ATM006	Autoimmune Lymphoproliferative Syndrome	74
11		BSL036	Basal Cell Nevus Syndrome	73
12	P	RTN024	Retinoblastoma	73
13	P	MLT020	Multiple Sclerosis	72
14	P	WSK001	Wiskott-Aldrich Syndrome	72
15	P	BRG001	Brugada Syndrome	71
16	c	GCH015	Gaucher Disease, Type I	70
17	P	MYP004	Myopathy	70
18	P	ASP006	Aspergillosis	69
19	P	MYC084	Mycobacterium Tuberculosis 1	68
20	P	MYS003	Myasthenia Gravis	68
21	P	HML033	Hemolytic Uremic Syndrome, Atypical 1	68
22	P	ALP004	Alport Syndrome	68
23	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
24		ANM044	Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities	67
25		CHD001	Chediak-Higashi Syndrome	66
26	P	TRC072	Treacher Collins Syndrome 1	66
27		ART001	Arterial Tortuosity Syndrome	66
28	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	66
29	c	LNG044	Long Qt Syndrome 1	66
30		CHG001	Chagas Disease	66
31		HTC003	Hutchinson-Gilford Progeria Syndrome	65
32		DMN031	Dementia, Lewy Body	65
33	P	DYS154	Dystonia	65
34	c	ART101	Aortic Valve Disease 2	65
35	P	HRP006	Herpes Simplex	65
36		GRN037	Granulomatosis with Polyangiitis	65
37		MYC079	Myoclonic Epilepsy of Lafora	64
38	P	PRT008	Proteus Syndrome	64
39		BRC012	Brucellosis	64
40	P	PRD008	Periodontitis	64
41		MSC007	Muscle Hypertrophy	64
42		KND001	Kindler Syndrome	64
43	c	PRC016	Pre-Eclampsia	63
44		TYP007	Typhoid Fever	63
45	c	HMP022	Hemophagocytic Lymphohistiocytosis, Familial, 1	63
46	c	ALP101	Alpha-Thalassemia	62
47	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	62
48		NNN026	Noonan Syndrome with Multiple Lentigines	62
49	c	GM1007	Gm1 Gangliosidosis	62
50	c	BRN108	Branchiootic Syndrome 1	62
51	P	SPN046	Spinal Muscular Atrophy	62
52		CHR619	Chromosome 2q35 Duplication Syndrome	62
53	P	BCK002	Beckwith-Wiedemann Syndrome	62
54		PHL006	Phelan-Mcdermid Syndrome	62
55		MSL001	Measles	62
56		NRM001	Neuromyelitis Optica	61
57	P	ENC018	Encephalopathy	61
58		ARG002	Argininosuccinic Aciduria	61
59		SDD001	Sudden Infant Death Syndrome	61
60		RGH009	Right Atrial Isomerism	60
61	P	SCL018	Scoliosis	60
62		CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	60
63	c	LYN004	Lynch Syndrome I	60
64	c	WLF013	Wolfram Syndrome 1	60
65	P	ALP009	Alopecia Areata	60
66		STR039	Sturge-Weber Syndrome	60
67	P	WLF004	Wolfram Syndrome	60
68		RHM001	Rheumatic Fever	60
69	P	SNS001	Sensorineural Hearing Loss	60
70	P	CTR002	Cataract	60
71		STT001	Status Epilepticus	60
72	P	VTL004	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	60
73	P	RBL001	Rubella	59
74		PRT013	Portal Hypertension	59
75		CRT002	Cartilage-Hair Hypoplasia	59
76	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	59
77	c	PRK089	Parkinson Disease 2, Autosomal Recessive Juvenile	59
78		MTC097	Mitochondrial Complex Iv Deficiency	59
79	P	LYM033	Lymphoproliferative Syndrome	59
80	c	LTN004	Late-Onset Retinal Degeneration	59
81	c	HRD031	Hereditary Paraganglioma-Pheochromocytoma Syndromes	59
82	P	NMN002	Niemann-Pick Disease	59
83		HYD058	Hydrops, Lactic Acidosis, and Sideroblastic Anemia	59
84	c	CLR131	Ciliary Dyskinesia, Primary, 1	59
85		INC002	Inclusion Body Myositis	58
86		ANT024	Anthrax Disease	58
87		MTC027	Mitochondrial Trifunctional Protein Deficiency	58
88	c	CHL140	Chilblain Lupus 1	58
89		ADL030	Adult-Onset Still's Disease	58
90		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	58
91	P	UVT001	Uveitis	57
92	c	CHR417	Chronic Graft Versus Host Disease	57
93	c	ANM036	Anemia, Sideroblastic, 1	57
94	P	MYM013	Moyamoya Disease 1	57
95		CHK001	Chikungunya	57
96		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	57
97		ARS001	Aarskog-Scott Syndrome	57
98	c	ANG068	Angioedema, Hereditary, Type I	57
99		BRT005	Barth Syndrome	57
100	P	ANG015	Angioedema	57
101		DNN002	Donnai-Barrow Syndrome	56
102		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	56
103		ADN027	Adenomyosis	56
104		SFT003	Soft Tissue Sarcoma	56
105		VRG001	Variegate Porphyria	56
106		ANN002	Anencephaly	56
107		NRL004	Neuroleptic Malignant Syndrome	56
108	P	NRF002	Neurofibromatosis	56
109	c	GRV008	Graves Disease 1	56
110		ANS023	Anus, Imperforate	56
111		GDP001	Goodpasture Syndrome	55
112	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	55
113	P	DRR001	Diarrhea	55
114	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	55
115	P	GRV001	Graves' Disease	55
116		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	55
117		OCL020	Ocular Cicatricial Pemphigoid	55
118		CCH002	Coach Syndrome	55
119		FLR002	Filariasis	55
120	c	INT064	Intermediate Uveitis	55
121	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	55
122	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	55
123		SYN007	Synovitis	54
124		FCT003	Factor X Deficiency	54
125		NCR004	Nocardiosis	54
126		RLP001	Relapsing Polychondritis	54
127	P	HMP002	Hemophagocytic Lymphohistiocytosis	54
128	P	ALP008	Alopecia	54
129		RST011	Restrictive Dermopathy, Lethal	54
130		HLL004	Hellp Syndrome	54
131		SLP001	Sleeping Sickness	54
132	P	BRC006	Brachydactyly	53
133		CRM001	Crimean-Congo Hemorrhagic Fever	53
134	c	JBR041	Joubert Syndrome 3	53
135		HYP706	Hypermobile Ehlers-Danlos Syndrome	53
136		HYP801	Hyperferritinemia with or Without Cataract	53
137	P	KRT028	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	53
138	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	53
139	P	RTN016	Retinal Degeneration	53
140	c	PRD040	Periodontitis, Chronic	53
141		INF034	Infective Endocarditis	53
142		IRD001	Iridocyclitis	53
143		ERD001	Erdheim-Chester Disease	53
144		MLB001	Mulibrey Nanism	53
145		KBG001	Kbg Syndrome	53
146		PRN011	Pernicious Anemia	53
147	c	FML008	Familial Retinoblastoma	53
148	P	RTN018	Retinal Disease	53
149	P	SLV027	Silver-Russell Syndrome 1	53
150		FRY006	Fryns Microphthalmia Syndrome	52
151	P	HYP730	Hypogonadotropic Hypogonadism	52
152	P	DDN001	Duodenal Ulcer	52
153	c	FBR084	Fibromatosis, Gingival, 1	52
154	P	PRR016	Pierre Robin Syndrome	52
155		END020	Endocardial Fibroelastosis	52
156		GLC009	Glucosephosphate Dehydrogenase Deficiency	52
157	P	ACT105	Acute Mountain Sickness	52
158	P	NLX004	Neu-Laxova Syndrome 1	52
159	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	52
160		THR009	Thrombocytopenia-Absent Radius Syndrome	52
161		NTR018	Neutrophilia, Hereditary	52
162	c	INH030	Inherited Retinal Disorder	51
163	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	51
164	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	51
165	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	51
166	c	BRD012	Bardet-Biedl Syndrome 11	51
167		FML026	Familial Lipoprotein Lipase Deficiency	51
168	c	SCN036	Secondary Progressive Multiple Sclerosis	51
169	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	51
170		MLT134	Multiple Pterygium Syndrome, Lethal Type	51
171	c	BRG005	Brugada Syndrome 1	51
172		MGL001	Megaloblastic Anemia	51
173	P	LCT001	Lactic Acidosis	51
174	c	PRM108	Primary Progressive Multiple Sclerosis	51
175		ACR013	Acrodysostosis	51
176		ESP002	Esophageal Varix	51
177	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	51
178		CLB002	Clubfoot	51
179		CLF037	Cleft Lip/palate-Ectodermal Dysplasia Syndrome	51
180		RSP023	Rasopathy	51
181	c	VRL007	Viral Encephalitis	51
182	c	BRC079	Brachydactyly, Type A2	51
183		CRD229	Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism	51
184		RLP003	Relapsing Fever	51
185	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	51
186	c	KLF004	Kleefstra Syndrome 1	50
187		WLL006	Wells Syndrome	50
188	c	PRM012	Primary Polycythemia	50
189	P	OVR082	Overgrowth Syndrome	50
190	c	HNT004	Huntington Disease-Like 2	50
191	P	ECL001	Eclampsia	50
192	c	GRS014	Griscelli Syndrome, Type 2	50
193		FLT009	Folate Malabsorption, Hereditary	50
194	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	50
195	c	SVR005	Severe Pre-Eclampsia	50
196	P	SMP003	Simpson-Golabi-Behmel Syndrome	50
197	P	PRT096	Peritoneal Mesothelioma	50
198	P	MTR003	Mitral Valve Stenosis	50
199	P	GNG025	Gingival Fibromatosis	50
200	c	HMC010	Hemochromatosis, Type 3	50
201	c	DYS191	Dystonia 1, Torsion, Autosomal Dominant	50
202	P	SCK005	Sickle Cell Disease	50
203		CYT005	Cytomegalovirus Retinitis	50
204	P	NNT009	Neonatal Diabetes Mellitus	50
205	c	AMY009	Amyloidosis Aa	50
206		PLC008	Placenta Disease	50
207		ECT026	Ectopic Pregnancy	50
208	c	BRD020	Bardet-Biedl Syndrome 8	50
209		BLS002	Blastomycosis	50
210	c	DYS119	Dystonia 9	50
211	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	49
212		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	49
213		RBF001	Riboflavin Deficiency	49
214	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	49
215		ERY004	Erysipelas	49
216	P	ART018	Aortic Valve Insufficiency	49
217		CRD002	Cri-Du-Chat Syndrome	49
218		SLT005	Solitary Median Maxillary Central Incisor	49
219		47X002	47,xyy	49
220		SPT005	Spotted Fever	49
221		PLM041	Pulmonary Valve Stenosis	49
222	c	OST126	Osteopetrosis, Autosomal Recessive 1	49
223		WDM005	Wiedemann-Rautenstrauch Syndrome	49
224	c	NNN010	Noonan Syndrome 3	49
225	c	NML002	Nemaline Myopathy 1	49
226	P	RCR004	Recurrent Respiratory Papillomatosis	49
227	P	CMP008	Compartment Syndrome	49
228		FRN020	Frontal Fibrosing Alopecia	49
229	P	ALP061	Alopecia, Androgenetic, 1	49
230	c	INV001	Invasive Aspergillosis	49
231	P	HYP828	Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	49
232		EBL001	Ebola Hemorrhagic Fever	49
233	c	NML003	Nemaline Myopathy 2	48
234		MCR020	Microsporidiosis	48
235	c	USH035	Usher Syndrome Type 2	48
236	P	ATS011	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	48
237	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	48
238		PTC002	Potocki-Lupski Syndrome	48
239	c	EPL073	Epilepsy, Nocturnal Frontal Lobe, 1	48
240	P	MCL001	Mucolipidosis	48
241	c	PRK092	Parkinson Disease 6, Autosomal Recessive Early-Onset	48
242		FBR032	Fibromuscular Dysplasia	48
243	P	GND004	Gonadal Dysgenesis	48
244		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	48
245		DRG013	Drug-Induced Lupus Erythematosus	48
246		MGL003	Megalocornea	48
247		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	48
248	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	48
249	P	MRC003	Mercury Poisoning	48
250		NNT017	Neonatal Adrenoleukodystrophy	47
251	c	PRK085	Parkinson Disease 1, Autosomal Dominant	47
252	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	47
253	c	NLX003	Neu-Laxova Syndrome 2	47
254		VRN004	Vernal Keratoconjunctivitis	47
255		SPH010	Sphingolipidosis	47
256	P	HMN032	Human Herpesvirus 8	47
257	P	ERY008	Erythromelalgia	47
258	c	HMP014	Hemophagocytic Lymphohistiocytosis, Familial, 4	47
259	P	JVN007	Juvenile Absence Epilepsy	47
260	P	DNR001	Duane Retraction Syndrome	47
261		TTR011	Tetraploidy	47
262		STV007	Stevens-Johnson Syndrome/toxic Epidermal Necrolysis	47
263	P	KLF001	Kleefstra Syndrome	47
264	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	47
265	P	JVN008	Juvenile Glaucoma	47
266	c	CRG004	Crigler-Najjar Syndrome, Type Ii	47
267		ATH001	Athabaskan Brainstem Dysgenesis Syndrome	47
268	c	MCK031	Meckel Syndrome, Type 2	47
269		MNC019	Monocarboxylate Transporter 1 Deficiency	47
270		PRG033	Progressive Non-Fluent Aphasia	46
271	P	VTR007	Vitreoretinopathy	46
272	c	CNT075	Central Precocious Puberty	46
273		ASP004	Asphyxia Neonatorum	46
274	P	ATM019	Autoimmune Polyendocrine Syndrome	46
275	c	ACT076	Acute Myocarditis	46
276	c	KNB006	Knobloch Syndrome 1	46
277	c	CTR098	Cataract 1, Multiple Types	46
278	c	NML004	Nemaline Myopathy 3	46
279	P	TRM004	Trimethylaminuria	46
280		MYL013	Myeloperoxidase Deficiency	46
281	c	ALP104	Alport Syndrome 3, Autosomal Dominant	46
282	c	LNG050	Long Qt Syndrome 5	46
283	c	MYP079	Myopathy, Myofibrillar, 5	46
284	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	46
285	c	ACQ010	Acquired Polycythemia	46
286		MNG006	Monogenic Diabetes	46
287		STT007	Steatocystoma Multiplex	46
288		ENC010	Encephalocraniocutaneous Lipomatosis	46
289	c	BRG004	Brugada Syndrome 4	46
290	c	VNW008	Von Willebrand Disease, Type 3	46
291		SBP004	Subependymoma	46
292	c	BRT050	Bartter Syndrome, Type 2, Antenatal	46
293		BRL010	Buruli Ulcer	46
294	c	GNR039	Generalized Epilepsy with Febrile Seizures Plus, Type 2	46
295	c	DRR009	Diarrhea 6	46
296		PRX001	Peroxisomal Disease	46
297		PST027	Postencephalitic Parkinson Disease	46
298		GLL048	Glial Tumor	45
299	P	HRN001	Horner's Syndrome	45
300	P	PRD037	Periodontal Ehlers-Danlos Syndrome	45
301	c	SPN293	Spinocerebellar Ataxia 12	45
302		GLY031	Glycoproteinosis	45
303		STP004	Staphylococcal Toxic Shock Syndrome	45
304	c	PSD106	Pseudo-Torch Syndrome 1	45
305		JVN033	Juvenile Nasopharyngeal Angiofibroma	45
306	c	GNR043	Generalized Epilepsy with Febrile Seizures Plus, Type 7	45
307		STS002	Situs Inversus	45
308		HYP059	Hypertelorism, Microtia, Facial Clefting Syndrome	45
309	c	GM2006	Gm2 Gangliosidosis	45
310	c	CNG199	Congenital Disorder of Glycosylation, Type Im	45
311		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	45
312	P	DSR089	Disorders of Sexual Development	45
313	c	LBR013	Leber Congenital Amaurosis 3	45
314		CLC017	Calcification of Joints and Arteries	45
315	P	PRD021	Periodic Paralysis	45
316	c	HMP012	Hemophagocytic Lymphohistiocytosis, Familial, 2	45
317	c	LYM106	Lymphoproliferative Syndrome 1	45
318	P	OSS001	Ossifying Fibroma	45
319	c	ZLL011	Zellweger Spectrum Disorder	45
320		RNS001	Raine Syndrome	45
321	c	STN011	Sting-Associated Vasculopathy with Onset in Infancy	45
322	c	XFP001	Xfe Progeroid Syndrome	45
323		FSH001	Fish-Eye Disease	45
324	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	45
325		HMH004	Hemihyperplasia, Isolated	45
326	c	CTR103	Cataract 4, Multiple Types	45
327	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	45
328	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	45
329		CSL001	Causalgia	45
330		PLN005	Palindromic Rheumatism	45
331	P	PSD003	Pseudohypoaldosteronism	44
332	c	MLG002	Malignant Peritoneal Mesothelioma	44
333		GRN017	Granulocytopenia	44
334	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	44
335		PTT037	Pituitary Tumors	44
336	c	LNG051	Long Qt Syndrome 6	44
337	c	PRK065	Parkinson Disease 20, Early-Onset	44
338	P	SDR002	Siderosis	44
339		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	44
340	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	44
341	c	BRC109	Brachydactyly, Type E1	44
342	c	PRK093	Parkinson Disease 8, Autosomal Dominant	44
343		SPN119	Spondylarthropathy	44
344	c	ANT071	Anterior Segment Dysgenesis 4	44
345	c	RNG023	Ring Chromosome 7	44
346		SML028	Semilobar Holoprosencephaly	44
347		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	44
348	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	44
349	c	HRD173	Hereditary Late-Onset Parkinson Disease	44
350		DYS018	Dysostosis	44
351		VLV044	Vulvar Intraepithelial Neoplasia	44
352		GRN007	Granuloma Annulare	44
353	P	BRN042	Branchiootic Syndrome	44
354		CHL109	Childhood Apraxia of Speech	44
355		IDP074	Idiopathic Bronchiectasis	44
356	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	44
357		IDP033	Idiopathic Edema	44
358	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	44
359		ANP009	Anaplastic Oligodendroglioma	43
360		SDR009	Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay	43
361	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	43
362	c	ATM097	Autoimmune Lymphoproliferative Syndrome, Type Iia	43
363		CLP005	Ciliopathy	43
364	c	EPL133	Epilepsy, Juvenile Absence 1	43
365	c	HYP847	Hyper Ige Recurrent Infection Syndrome 1	43
366	c	BRT052	Bartter Syndrome, Type 1, Antenatal	43
367		MRG013	Mirage Syndrome	43
368	c	HYP575	Hypotrichosis 7	43
369	c	DYS059	Dystonia 16	43
370	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	43
371	c	CNG198	Congenital Disorder of Glycosylation, Type Il	43
372	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	43
373	P	SYN075	Syngnathia	43
374		FRY002	Fryns Syndrome	43
375	c	CHR546	Chronic Mountain Sickness	43
376	P	EPT020	Epithelioid Hemangioendothelioma	43
377	P	DMY001	Demyelinating Polyneuropathy	43
378	c	PRK052	Parkinson Disease 17	43
379		SCH037	Schinzel-Giedion Midface Retraction Syndrome	43
380		IDP073	Idiopathic Hypercalciuria	43
381	P	PRP034	Purpura Fulminans	43
382	c	ALP105	Alport Syndrome 2, Autosomal Recessive	43
383		PMP004	Pemphigus Foliaceus	43
384		DSC009	Discoid Lupus Erythematosus	42
385	c	HMP013	Hemophagocytic Lymphohistiocytosis, Familial, 3	42
386		TRP009	Triple X Syndrome	42
387		C1Q001	C1q Deficiency	42
388		CYT002	Cytokine Deficiency	42
389		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	42
390		PRS115	Prosthetic Joint Infection	42
391	c	MCL066	Macular Dystrophy, Vitelliform, 2	42
392		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	42
393	P	CLS010	Cluster Headache	42
394	c	MTC116	Mitochondrial Myopathy, Infantile, Transient	42
395	c	LYM107	Lymphoproliferative Syndrome 2	42
396	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	42
397	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	42
398		PHH001	Phaeohyphomycosis	42
399		MTH077	Methylmalonic Aciduria, Cbla Type	42
400		PHS023	Phosphoserine Aminotransferase Deficiency	42
401	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	42
402	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	42
403		TRP014	Triploidy	42
404	c	LBR009	Leber Congenital Amaurosis 14	42
405		INT276	Interatrial Communication	42
406	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	42
407	c	VTL009	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	42
408		BTN002	Boutonneuse Fever	42
409	c	PRG011	Progressive Myoclonus Epilepsy	42
410	P	HYP087	Hypotrichosis	42
411	P	RNG032	Ring Chromosome	42
412	P	VTL001	Vitelliform Macular Dystrophy	42
413	c	WLF009	Wolfram Syndrome 2	42
414		EHR002	Ehrlichiosis	42
415		FSR001	Fusariosis	42
416	c	MYP080	Myopathy, Myofibrillar, 4	41
417		FBR019	Fibromatosis	41
418	c	HMP023	Hemophagocytic Lymphohistiocytosis, Familial, 5	41
419	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	41
420	c	PST041	Posterior Urethral Valves	41
421		CNG134	Congenitally Corrected Transposition of the Great Arteries	41
422	c	BRT038	Baraitser-Winter Syndrome 1	41
423	c	CTR132	Cataract 3, Multiple Types	41
424	c	BRC052	Brachydactyly, Type B2	41
425	c	WRB003	Warburg Micro Syndrome 2	41
426	P	KLZ004	Kala-Azar 1	41
427		LCH016	Lichen Sclerosus Et Atrophicus	41
428	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	41
429	c	CLR136	Ciliary Dyskinesia, Primary, 9	41
430	c	SPN100	Spinocerebellar Ataxia 27	41
431		PRK003	Parkes Weber Syndrome	41
432	c	PRM032	Primary Congenital Glaucoma	41
433		INH001	Inhalation Anthrax	41
434		CHR659	Chromosome 22q11.2 Duplication Syndrome	41
435		PLG004	Plagiocephaly	41
436	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	41
437		DPH019	Diaphanospondylodysostosis	41
438	c	CTR118	Cataract 14, Multiple Types	41
439	c	FML363	Familial Adult Myoclonic Epilepsy	41
440		MYP093	Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset	41
441		HYP466	Hyperplastic Polyposis Syndrome	41
442	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	41
443		MNT058	Mental Retardation, X-Linked, Syndromic, Turner Type	41
444	P	SPS008	Spastic Ataxia	41
445	c	46X002	46 Xx Gonadal Dysgenesis	41
446		PYG006	Pyogenic Granuloma	41
447	c	HYP581	Hypotrichosis 6	40
448		PLY062	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy	40
449	c	CTR183	Cataract 38	40
450	c	PRK090	Parkinson Disease 3, Autosomal Dominant	40
451	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	40
452	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	40
453		HYL005	Hyaline Body Myopathy	40
454	c	MYC083	Myoclonic Epilepsy, Familial Infantile	40
455	c	ATS018	Autosomal Recessive Alport Syndrome	40
456	c	PRK021	Parkinson Disease 7, Autosomal Recessive Early-Onset	40
457	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	40
458		IDP064	Idiopathic Neutropenia	40
459	c	TYR011	Tyrosinemia, Type Iii	40
460	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	40
461	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	40
462		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	40
463	P	WRB001	Warburg Micro Syndrome	40
464		BLR027	Blue Rubber Bleb Nevus	40
465		WDH003	Woodhouse-Sakati Syndrome	40
466		MRB001	Marburg Hemorrhagic Fever	40
467	c	CNG195	Congenital Disorder of Glycosylation, Type Id	40
468	c	NML010	Nemaline Myopathy 7	40
469	P	MCR364	Macrodactyly	40
470		PLY100	Polyploidy	40
471	P	TRC031	Trichorhinophalangeal Syndrome	40
472		HNZ004	Heinz Body Anemias	39
473		ORM002	Oromandibular Dystonia	39
474	P	INT260	Intracranial Berry Aneurysm	39
475	c	NML005	Nemaline Myopathy 4	39
476		HTR003	Heterotaxy	39
477	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	39
478		NDL003	Nodular Nonsuppurative Panniculitis	39
479	c	BRG007	Brugada Syndrome 5	39
480	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	39
481		CHR590	Chromosome 15q11-Q13 Duplication Syndrome	39
482	P	CRN074	Coronary Artery Aneurysm	39
483	P	DYS021	Dysautonomia	39
484	c	ERL056	Early-Onset Parkinson's Disease	39
485		WLL004	Wallerian Degeneration	39
486	c	CTR130	Cataract 9, Multiple Types	39
487	c	ACT004	Acute Diarrhea	39
488	c	DYS151	Dystonia 25	39
489		RCK002	Rocky Mountain Spotted Fever	39
490	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	39
491		SYN089	Syndromic X-Linked Intellectual Disability Snyder Type	39
492		RTC012	Reticuloendotheliosis, X-Linked	39
493		PCH007	Pouchitis	39
494		CRV045	Cervical Intraepithelial Neoplasia	39
495	c	LNG046	Long Qt Syndrome 11	39
496	c	HYP507	Hypotrichosis 1	39
497	P	NNT042	Neonatal Lupus Erythematosus	39
498		BLL012	Bullous Impetigo	39
499	c	BRG003	Brugada Syndrome 3	39
500	c	PRK091	Parkinson Disease 4, Autosomal Dominant	39
501		IND002	Indolent Systemic Mastocytosis	39
502		SCH060	Schistosoma Mansoni Infection, Susceptibility/	39
503		RHM035	Rheumatic Fever-Related Antigen	39
504	c	RTN066	Retinitis Pigmentosa 4	39
505	P	MNN007	Meningocele	39
506		SLP010	Slipped Capital Femoral Epiphysis	39
507		CMB017	Combined Oxidative Phosphorylation Deficiency 6	38
508		AGM004	Agammaglobulinemia, Non-Bruton Type	38
509		SVR058	Severe Early-Childhood-Onset Retinal Dystrophy	38
510		AMN006	Aminoaciduria	38
511		RPD005	Rapidly Involuting Congenital Hemangioma	38
512	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	38
513	c	ACQ012	Acquired Angioedema	38
514	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	38
515	c	ATM075	Autoimmune Encephalitis	38
516	c	DNR003	Duane Retraction Syndrome 1	38
517		NCR002	Necrobiosis Lipoidica	38
518	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	38
519	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	38
520		CHR382	Chromosome 18q Deletion Syndrome	38
521		PRM056	Primrose Syndrome	38
522	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	38
523		ALG027	Al-Gazali-Bakalinova Syndrome	38
524	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	38
525		ISL109	Isolated Cleft Lip	38
526		CHY005	Chylothorax, Congenital	38
527		SPS019	Spastic Paraparesis	38
528		VLV042	Vulvar Vestibulitis Syndrome	38
529		SCR039	Scorpion Envenomation	38
530		MYS004	Myiasis	38
531	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	38
532		HRT040	Hirata Disease	38
533	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	38
534	P	CNG048	Congenital Hepatic Fibrosis	38
535	c	BRC080	Brachydactyly, Type A1, B	38
536		SHW001	Shwartzman Phenomenon	37
537		TNM001	Tinea Imbricata	37
538		CHR502	Chromosome 17q12 Duplication Syndrome	37
539	c	CTR115	Cataract 16, Multiple Types	37
540		PRT048	Partial Atrioventricular Canal	37
541		SPC031	Specific Learning Disability	37
542	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	37
543	P	SYN059	Syndactyly, Type V	37
544		CRD016	Cardiac Rupture	37
545		PSD016	Pseudosarcomatous Fibromatosis	37
546		FRN014	Fournier Gangrene	37
547		NNL001	Non-Langerhans-Cell Histiocytosis	37
548	c	DYS146	Dystonia 24	37
549	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	37
550	P	ANT061	Antenatal Bartter Syndrome	37
551		STR077	Streptococcal Toxic-Shock Syndrome	37
552		MNN021	Meningococcemia	37
553	c	ANT084	Anterior Segment Dysgenesis 3	37
554		MNN001	Meningeal Melanocytoma	37
555	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	37
556	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	37
557	c	HYP548	Hypogonadotropic Hypogonadism 2 with or Without Anosmia	37
558		MTC112	Mitochondrial Dna-Associated Leigh Syndrome	37
559	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	37
560		PST086	Posterior Cortical Atrophy	37
561	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	37
562		SYS071	Systemic Autoimmune Disease	37
563	c	PRK070	Parkinson Disease 21	37
564		HYP682	Hypertelorism, Teebi Type	37
565		MTC019	Metachromatic Leukodystrophy Due to Saposin B Deficiency	36
566		ATN021	Autoinflammatory Syndrome	36
567	P	PHC019	Pheochromocytoma-Paraganglioma	36
568	P	NNP021	Nanophthalmos	36
569	P	CNG024	Congenital Nystagmus	36
570		MYC017	Mycobacterium Kansasii	36
571	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
572		MLT150	Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia	36
573	c	HYP559	Hypotrichosis 8	36
574	P	DNT007	Dentin Sensitivity	36
575	c	ALB015	Albinism, Oculocutaneous, Type V	36
576	c	RTN052	Retinitis Pigmentosa 23	36
577		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	36
578	c	CTR141	Cataract 21, Multiple Types	36
579	c	SPN247	Spinocerebellar Ataxia Type 19/22	36
580	c	CNR006	Cone-Rod Dystrophy 5	36
581	c	PLZ002	Pelizaeus-Merzbacher-Like Disease	36
582		INT020	Intravenous Leiomyomatosis	36
583	c	ANT085	Anterior Segment Dysgenesis 5	36
584		PHS022	Phosphoserine Phosphatase Deficiency	36
585		SPT024	Spotted Fever Rickettsiosis	36
586		CNT057	Central Centrifugal Cicatricial Alopecia	36
587	c	CTR174	Cataract 40	36
588	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	36
589	c	MYC068	Myoclonic Epilepsy of Infancy	36
590	c	NML022	Nemaline Myopathy 10	36
591	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	36
592	c	NML025	Nemaline Myopathy 8	36
593	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	36
594		PRN029	Parainfluenza Virus Type 3	36
595	P	MTP001	Metaphyseal Dysplasia	36
596		ATH010	Athyreosis	36
597		ASC009	Ascites, Chylous	35
598	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	35
599		MTG002	Mutagen Sensitivity	35
600	c	ANT077	Anterior Segment Dysgenesis 1	35
601		MNS001	Mansonelliasis	35
602	c	WLL036	Weill-Marchesani Syndrome 1	35
603	c	ALB016	Albinism, Oculocutaneous, Type Vii	35
604	c	CTR129	Cataract 31, Multiple Types	35
605		CRB108	Cerebral Palsy, Ataxic, Autosomal Recessive	35
606	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	35
607	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	35
608	c	ATM022	Autoimmune Myocarditis	35
609		CMB043	Combined Oxidative Phosphorylation Deficiency 9	35
610		RFR013	Refractory Celiac Disease	35
611	c	DYS172	Dystonia 27	35
612	c	CLR059	Ciliary Dyskinesia, Primary, 13	35
613	c	CTR170	Cataract 30, Multiple Types	35
614	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	35
615		CNT106	Centralopathic Epilepsy	35
616		CHR178	Chromosomal Triplication	35
617		PCT001	Pectus Carinatum	35
618	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	35
619		FST010	Fasting Hypoglycemia	35
620	P	BRT040	Baraitser-Winter Syndrome	35
621	P	MYC026	Myoclonus Epilepsy	35
622	P	MTP005	Metaphyseal Anadysplasia	35
623		WBR001	Weber Syndrome	35
624		CHR387	Chromosome Xp21 Deletion Syndrome	35
625	c	ATM083	Autoimmune Lymphoproliferative Syndrome, Type Iii	35
626		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	35
627	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	35
628		LPB001	Lipoblastoma	34
629		XNT009	Xanthoma Disseminatum	34
630		KSH001	Keshan Disease	34
631		CRY019	Cryohydrocytosis	34
632		LSN002	Loose Anagen Hair Syndrome	34
633		MTH047	Methanol Poisoning	34
634	c	STS007	Sotos Syndrome 2	34
635		HYP679	Hypoglossia-Hypodactylia	34
636	c	TYP024	Type Ii Mixed Cryoglobulinemia	34
637	c	HYP525	Hypotrichosis 2	34
638		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	34
639		HNS001	Hansen's Disease	34
640		GNR035	Generalized Juvenile Polyposis/juvenile Polyposis Coli	34
641	c	CLR042	Ciliary Dyskinesia, Primary, 6	34
642	c	CLR056	Ciliary Dyskinesia, Primary, 10	34
643	c	CTR145	Cataract 44	34
644	c	RNG004	Ring Chromosome 1	34
645		CMB046	Combined Oxidative Phosphorylation Deficiency 11	34
646		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	34
647		STC004	Stachybotrys Chartarum	34
648	c	BRC060	Brachydactyly, Type E2	34
649	c	BRG006	Brugada Syndrome 2	34
650		BWN003	Bowenoid Papulosis	34
651	c	BRC062	Brachydactyly, Type D	34
652	c	CTR122	Cataract 5, Multiple Types	34
653	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	34
654		HYP223	Hypoplastic Right Heart Syndrome	34
655		NNT024	Neonatal Stroke	34
656		RHM034	Rahman Syndrome	34
657		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	34
658	c	LTH026	Lethal Congenital Contracture Syndrome 4	34
659	c	PRM149	Primary Hypereosinophilic Syndrome	34
660	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	34
661		WRT003	Warthin Tumor	34
662	c	ACQ047	Acquired Methemoglobinemia	34
663	c	MYM004	Moyamoya Disease 2	34
664	P	HVY001	Heavy Chain Disease	34
665		LGH012	Leigh Syndrome with Leukodystrophy	34
666	c	PK3005	Pik3ca-Related Overgrowth Syndrome	34
667		GRN022	Granulosa Cell Tumor of the Ovary	34
668	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	34
669		PRX005	Peroxisomal Biogenesis Disorder	34
670		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	34
671	c	RST012	Restless Legs Syndrome 1	34
672	c	CNG562	Congenital Hypogonadotropic Hypogonadism	34
673		BRN041	Bornholm Eye Disease	34
674	c	CLR066	Ciliary Dyskinesia, Primary, 2	34
675	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	34
676	c	INF002	Inflammatory Diarrhea	34
677	c	MCR329	Microcephaly, Autosomal Dominant	33
678	c	RNG020	Ring Chromosome 4	33
679		LMN011	Laminopathy	33
680	c	WLL040	Weill-Marchesani Syndrome 4	33
681	P	ACR072	Acrorenal Syndrome	33
682	c	SCN069	Secondary Hemophagocytic Lymphohistiocytosis	33
683	c	PRM304	Primary Hemophagocytic Lymphohistiocytosis	33
684		MTH086	Methotrexate Toxicity	33
685		PRX009	Paroxysmal Hemicrania	33
686	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	33
687	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	33
688		MDM001	Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency	33
689		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	33
690		PPL050	Papillary Tumor of the Pineal Region	33
691		PSD008	Pseudopapilledema	33
692		NNS011	Nonseminomatous Germ Cell Tumor	33
693		ACT064	Acute Necrotizing Encephalitis	33
694		HMR015	Humeroradial Synostosis	33
695		EMP011	Emphysema, Congenital Lobar	33
696		PRL042	Proliferating Trichilemmal Cyst	33
697	c	HYP576	Hypotrichosis 4	33
698	P	CXV002	Coxa Vara	33
699	c	PRK025	Parkinson Disease 10	33
700		MSC020	Mosaic Trisomy 8	33
701		CHL107	Childhood-Onset Nemaline Myopathy	33
702		TXC020	Toxic Oil Syndrome	33
703		CMB077	Combined Oxidative Phosphorylation Deficiency 30	33
704	c	CTR111	Cataract 36	33
705	c	KLF005	Kleefstra Syndrome 2	33
706		SPT023	Septate Uterus	33
707	c	CLR095	Ciliary Dyskinesia, Primary, 19	33
708	c	HYP577	Hypotrichosis 13	33
709	P	PRS013	Prosopagnosia	33
710	c	NML021	Nemaline Myopathy 9	33
711	c	MCL059	Macular Dystrophy, Patterned, 1	32
712		CHR362	Chromosome 17q21.31 Duplication Syndrome	32
713		BWN006	Bowen's Disease	32
714		CND006	Candida Glabrata	32
715	c	BRC075	Brachydactyly, Type A1, C	32
716		XLN206	X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	32
717		DSN002	Desanto-Shinawi Syndrome	32
718		GBR007	Gabriele-De Vries Syndrome	32
719	c	EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	32
720	c	BRG008	Brugada Syndrome 6	32
721	c	VCT004	Vacterl Association with Hydrocephalus	32
722	c	DYS145	Dystonia 23	32
723	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	32
724		WST010	West Nile Virus Infection	32
725		CHR377	Chromosome 10q26 Deletion Syndrome	32
726	c	ATM068	Autoimmune Hypoparathyroidism	32
727		ODN005	Odontogenic Myxoma	32
728		TRG019	Trigonocephaly with Short Stature and Developmental Delay	32
729		MLT035	Multifocal Choroiditis	32
730		PPC001	Pepck 1 Deficiency	32
731		PNC059	Punctate Inner Choroidopathy	32
732		SCL025	Scleromyxedema	32
733	P	SPN202	Spinocerebellar Ataxia, X-Linked 1	32
734	c	CNG188	Congenital Disorder of Glycosylation, Type if	32
735	c	CLR106	Ciliary Dyskinesia, Primary, 26	32
736		HSH004	Hashimoto Encephalopathy	32
737	c	PRM316	Primary Congenital Hypothyroidism	32
738		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	32
739		WLD005	Wild Type Attr Amyloidosis	32
740		THM005	Thumb Deformity	32
741		ALP048	Alopecia Totalis	32
742		HGH041	High-Grade Astrocytoma	32
743	P	KNB001	Knobloch Syndrome	32
744		DYS198	Dystonia, Focal, Task-Specific	32
745	c	GLC083	Glaucoma 3, Primary Infantile, B	32
746	c	CTR185	Cataract 30	32
747	c	GNR034	Generalized Epilepsy with Febrile Seizures Plus, Type 9	32
748	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	32
749		MYC014	Mycobacterium Chelonae	31
750		ISL011	Isolated Aniridia	31
751		RMN001	Rumination Disorder	31
752	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	31
753	c	ANG045	Angioedema, Hereditary, Type Iii	31
754		ASH001	Asherman's Syndrome	31
755	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
756	c	ATS015	Autosomal Dominant Alport Syndrome	31
757		CYT004	Cytomegalic Inclusion Disease	31
758		PNT003	Pinta Disease	31
759	c	ANT083	Anterior Segment Dysgenesis 7	31
760		ATR048	Atrial Tachyarrhythmia with Short Pr Interval	31
761		DRF001	Dirofilariasis	31
762	c	BRG012	Brugada Syndrome 9	31
763		MRF021	Marfanoid-Progeroid-Lipodystrophy Syndrome	31
764		MYP097	Myopathy with Lactic Acidosis, Hereditary	31
765	c	JVN034	Juvenile Polyposis of Infancy	31
766		INT104	Intravascular Papillary Endothelial Hyperplasia	31
767		EXN003	Exencephaly	31
768	c	EPL188	Epilepsy, Progressive Myoclonic, 10	31
769	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	31
770	P	HRD209	Hereditary Angioedema with Normal C1inh	31
771		ISL061	Isolated Brachycephaly	31
772	c	CTR102	Cataract 2, Multiple Types	31
773	c	SVR040	Severe Congenital Nemaline Myopathy	31
774	c	RNG008	Ring Chromosome 13	31
775	P	HRT017	Heart Tumor	31
776	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	31
777		ODN006	Odontoma	31
778		TBL008	Tibial Hemimelia	31
779		SPS016	Spasmodic Dysphonia	31
780	c	CNG478	Congenital Diarrhea	31
781	P	ACT241	Acute Bilirubin Encephalopathy	31
782		ATY016	Atypical Werner Syndrome	31
783		CBB005	Cobblestone Lissencephaly	31
784		DYS001	Dyskinetic Cerebral Palsy	31
785	c	CTR097	Cataract 34, Multiple Types	31
786	c	DMN006	Diamond-Blackfan Anemia 3	31
787		MXD032	Mixed Germ Cell Tumor	31
788		STT009	Sutton Disease 2	30
789	c	HRD198	Hereditary Dystonia	30
790		RST024	Rosette-Forming Glioneuronal Tumor	30
791	P	CHR084	Chromosomal Disease	30
792	c	EPL202	Epilepsy, Nocturnal Frontal Lobe, 2	30
793		DFF031	Diffuse Alveolar Hemorrhage	30
794		SGR001	Sugarman Brachydactyly	30
795		GRN033	Granulomatous Mastitis	30
796		GRN004	Granulomatous Amebic Encephalitis	30
797		SNG003	Single Ventricular Heart	30
798		MCL018	Macular Dystrophy, Concentric Annular	30
799		WRF003	Warfarin Syndrome	30
800		TTR014	Tetrasomy 18p	30
801	c	BNG001	Benign Peritoneal Mesothelioma	30
802		CHL078	Childhood-Onset Schizophrenia	30
803		GLY078	Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency	30
804	c	JVN038	Juvenile Myasthenia Gravis	30
805		MTR087	Maternal Uniparental Disomy	30
806	c	RNG018	Ring Chromosome 22	30
807		CRN294	Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	30
808	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	30
809		CRB091	Cerebro-Oculo-Facio-Skeletal Syndrome	30
810		CHR582	Chromosome 3q29 Duplication Syndrome	30
811		TTR012	Tetrasomy 9p	30
812	c	ICH023	Ichthyosis, Acquired	30
813	c	SNG011	Singleton-Merten Syndrome 1	30
814		CLF049	Cleft Lip and Alveolus	30
815		ELS002	Elastosis Perforans Serpiginosa	30
816		SLR005	Solar Urticaria	30
817		MYP064	Myopericytoma	30
818		CMB044	Combined Oxidative Phosphorylation Deficiency 14	30
819		LMB010	Lambert Syndrome	30
820	P	SNG014	Singleton-Merten Syndrome	30
821		RSP007	Respiratory Distress Syndrome, Infant	30
822	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	30
823	c	SPS021	Spastic Paraplegia 10	30
824		CHR487	Chromosome 8q21.11 Deletion Syndrome	30
825		ENG004	Engraftment Syndrome	30
826		ATR088	Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects	30
827		IDP041	Idiopathic Recurrent Pericarditis	30
828		QLT008	Qualitative or Quantitative Defects of Dysferlin	30
829	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	30
830		HYP021	Hypercementosis	30
831		PRC051	Paracetamol Poisoning	30
832		GNT019	Giant Cell Myocarditis	30
833		NTR036	Neutropenia, Severe Congenital, X-Linked	30
834		PTT063	Pattern Dystrophy	29
835		CHR524	Chromosome 16p13.3 Duplication Syndrome	29
836	P	VTR008	Vitreoretinal Degeneration	29
837	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	29
838	c	HYP515	Hypotrichosis 3	29
839		ACT228	Acute Radiation Syndrome	29
840	c	EPL155	Epilepsy, Progressive Myoclonic, 8	29
841		DFF004	Diffuse Peritoneal Leiomyomatosis	29
842		CPP003	Cap Polyposis	29
843	c	RTN067	Retinitis Pigmentosa 41	29
844	c	CLR116	Ciliary Dyskinesia, Primary, 29	29
845	c	CTR175	Cataract 24	29
846	c	WRD010	Waardenburg Syndrome Type 4	29
847		SPR068	Sporadic Pheochromocytoma/secreting Paraganglioma	29
848	c	CLR069	Ciliary Dyskinesia, Primary, 8	29
849	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	29
850		DYS030	Dysferlinopathy	29
851		OCC011	Occipital Encephalocele	29
852		CLC010	Calcifying Epithelial Odontogenic Tumor	29
853		LPG001	Lipogranulomatosis	29
854	c	RNG005	Ring Chromosome 10	29
855		RHM015	Rhombencephalosynapsis	29
856		OVR097	Ovarian Fibrothecoma	29
857	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	29
858		PLM059	Pulmonary Atresia with Ventricular Septal Defect	29
859	c	CLR067	Ciliary Dyskinesia, Primary, 4	29
860		CHR270	Chromosome 9p Duplication	29
861		NNH013	Non-Histaminic Angioedema	29
862		MYC019	Mycobacterium Marinum	29
863		FLL042	Folliculotropic Mycosis Fungoides	29
864		SCR024	Sacrococcygeal Teratoma	29
865	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	29
866		WLL012	Williams-Beuren Region Duplication Syndrome	29
867	c	CLR134	Ciliary Dyskinesia, Primary, 3	29
868		ART030	Aortic Arch Interruption	29
869		PST092	Posttransplant Acute Limbic Encephalitis	29
870	c	EPL096	Epilepsy, Nocturnal Frontal Lobe, 5	29
871		FRS007	Frias Syndrome	29
872	c	LYM151	Lymphoproliferative Syndrome 3	29
873	c	BRN128	Branchiootic Syndrome 3	29
874	P	PRG139	Progeroid Syndrome	28
875		CRN051	Craniofacial Microsomia	28
876	c	CNR039	Cone-Rod Dystrophy, X-Linked, 2	28
877	c	RTN068	Retinitis Pigmentosa 6	28
878		PSD046	Pseudotrisomy 13 Syndrome	28
879		KRB005	Krabbe Disease, Atypical, Due to Saposin a Deficiency	28
880	c	SLV028	Silver-Russell Syndrome 3	28
881	c	EPL204	Epilepsy, Nocturnal Frontal Lobe, 4	28
882	c	EPL154	Epilepsy, Progressive Myoclonic, 9	28
883		HMC012	Hemicrania Continua	28
884	c	ERL003	Early Onset Absence Epilepsy	28
885	c	PRK083	Parkinson Disease 22, Autosomal Dominant	28
886		CHR379	Chromosome 15q26-Qter Deletion Syndrome	28
887	c	RNG022	Ring Chromosome 6	28
888	c	CTR121	Cataract 25	28
889	c	MCL070	Macular Dystrophy, Patterned, 3	28
890		GRW039	Growth Retardation, Developmental Delay, and Facial Dysmorphism	28
891	P	CRN249	Cornea Plana	28
892		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	28
893	c	EPL210	Epilepsy, Progressive Myoclonic, 6	28
894		IDP034	Idiopathic Central Precocious Puberty	28
895	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	28
896	c	DRR018	Diarrhea 9	28
897	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	28
898	c	SPS091	Spastic Paraplegia 4	28
899		HYP808	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration	28
900	c	CLR102	Ciliary Dyskinesia, Primary, 17	28
901		TRC110	Tracheobronchial Stenosis, Congenital	28
902	c	FRN032	Frontonasal Dysplasia 3	28
903		LPD001	Lipid Pneumonia	28
904	c	PRK098	Parkinson Disease 5, Autosomal Dominant	28
905	c	DNR004	Duane Retraction Syndrome 2	28
906	c	PLM121	Pulmonary Hypertension, Primary, 4	28
907	c	PSD107	Pseudo-Torch Syndrome 2	28
908	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	28
909		HYP638	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	28
910		ATH004	Athetosis	28
911		BRL001	Brill-Zinsser Disease	28
912		TRP020	Tropical Endomyocardial Fibrosis	28
913	c	CTR166	Cataract 33, Multiple Types	28
914		SRN002	Sirenomelia	28
915	c	CLR104	Ciliary Dyskinesia, Primary, 15	28
916		PDT027	Pediatric Ulcerative Colitis	28
917		16Q001	16q24.3 Microdeletion Syndrome	28
918	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	28
919	c	NML007	Nemaline Myopathy 6	28
920		PTN004	Patent Ductus Venosus	28
921	c	PRG140	Progressive Myoclonus Epilepsy 4	28
922	c	CTR187	Cataract 48	28
923		CLV004	Calvarial Hyperostosis	28
924	c	HML035	Hemolytic Uremic Syndrome, Atypical 2	28
925	c	CLR053	Ciliary Dyskinesia, Primary, 11	28
926	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	28
927	c	MTC074	Metachromatic Leukodystrophy, Adult Form	28
928		MSM016	Mesomelic Dysplasia, Kantaputra Type	28
929		HLP004	Holoprosencephaly, Recurrent Infections, and Monocytosis	28
930		PRK076	Porokeratosis 2, Palmar, Plantar, and Disseminated Type	28
931	c	CTR158	Cataract 37	27
932		STC017	Stickler Syndrome, Type I, Nonsyndromic Ocular	27
933	c	EPL134	Epilepsy, Progressive Myoclonic 7	27
934		CTN019	Cutaneous Polyarteritis Nodosa	27
935		KLB004	Klebsiella Infection	27
936	c	CLR135	Ciliary Dyskinesia, Primary, 7	27
937		CMB071	Combined Oxidative Phosphorylation Deficiency 27	27
938	P	TRS029	Trisomy 1q	27
939		TRC038	Tracheobronchomegaly	27
940		CNG506	Congenital Amyoplasia	27
941		CCN009	Cocaine Intoxication	27
942	c	CTR131	Cataract 17, Multiple Types	27
943		MCR365	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2	27
944	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	27
945		BRN055	Bronchogenic Cyst	27
946	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	27
947		CTR027	Cataract-Glaucoma	27
948	c	PRT063	Proteus-Like Syndrome	27
949	P	NNT006	Neonatal Myasthenia Gravis	27
950		CNG065	Congenital Contractures	27
951	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	27
952	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	27
953	c	CLR091	Ciliary Dyskinesia, Primary, 14	27
954		FRN022	Frontofacionasal Dysplasia	27
955		CHR190	Chromosome 12p Duplication	27
956		ARG004	Argyria	27
957	c	KRT078	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	27
958	c	CTR180	Cataract 22, Multiple Types	27
959	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	27
960	c	CTR125	Cataract 7	27
961	c	ALT008	Alternating Hemiplegia of Childhood 1	27
962	c	RNG007	Ring Chromosome 12	27
963	c	TRC073	Treacher Collins Syndrome 2	27
964		NRL008	Neural Crest Tumor	27
965	c	TRC071	Treacher Collins Syndrome 3	27
966		STR007	Stress Polycythemia	27
967		CYT018	Cytochrome P450 2d6 Variant	27
968		ANP007	Anaplastic Ganglioglioma	27
969	c	RNG010	Ring Chromosome 15	27
970	c	HRD220	Hereditary Spastic Paraplegia 30	27
971		MYL080	Myalgic Encephalomyelitis/chronic Fatigue Syndrome	27
972		PLS031	Plastic Bronchitis	27
973		CHR209	Chromosome 17p Duplication	27
974	c	CTR124	Cataract 10, Multiple Types	27
975		HMX003	Heme Oxygenase 1 Deficiency	27
976	c	MYS062	Myasthenic Syndrome, Congenital, 2a, Slow-Channel	27
977		MCR310	Microgastria-Limb Reduction Defects Association	27
978		KCN010	Kcnq2-Related Disorders	27
979		LRY026	Laryngeal Cleft	27
980	c	ERL012	Early-Onset Glaucoma	27
981		PRM050	Primary Orthostatic Tremor	27
982		THR032	Thoracolaryngopelvic Dysplasia	27
983		END051	Endolymphatic Sac Tumor	27
984	P	CRY006	Cryofibrinogenemia	27
985		DPH012	Diphallia	27
986	P	IDP090	Idiopathic Eosinophilic Pneumonia	27
987		ACR099	Acrofacial Dysostosis, Catania Type	27
988		PSD026	Pseudoainhum	27
989		LDD006	Ledderhose Disease	27
990	c	CLR123	Ciliary Dyskinesia, Primary, 37	27
991		FXC001	Foix Chavany Marie Syndrome	27
992		RFR007	Refractory Anemia with Excess Blasts in Transformation	27
993		CRL001	Cerulean Cataract	27
994		IGG014	Igg4-Related Sclerosing Cholangitis	26
995	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	26
996		OCL030	Oculoauriculofrontonasal Syndrome	26
997	c	HYP528	Hypotrichosis 11	26
998		MST020	Mast Cell Activation Syndrome	26
999		HMC001	Homocarnosinosis	26
1000	c	LM2001	Lama2-Related Muscular Dystrophy	26
1001	c	RNG015	Ring Chromosome 2	26
1002	P	MCL035	Macular Dystrophy, Retinal, 2	26
1003		CMP093	Complement Component 8 Deficiency, Type I	26
1004		STR033	Storm Syndrome	26
1005	c	RNG024	Ring Chromosome 8	26
1006	c	BRT039	Baraitser-Winter Syndrome 2	26
1007	c	SYS066	Systemic Polyarteritis Nodosa	26
1008		THY098	Thyroid Ectopia	26
1009		HTT002	Hutterite Cerebroosteonephrodysplasia Syndrome	26
1010		SRC011	Sarcocystosis	26
1011		MCR302	Macrostomia, Isolated	26
1012		DFC001	Defective Apolipoprotein B-100	26
1013	c	PRG147	Progressive Myoclonus Epilepsy 8	26
1014		CMP035	Complete Atrioventricular Canal	26
1015	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	26
1016	c	ALT007	Alternating Hemiplegia of Childhood 2	26
1017	c	NNP011	Nanophthalmos 2	26
1018		DVL022	Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair	26
1019		MYC018	Mycobacterium Malmoense	26
1020		IGP001	Iga Pemphigus	26
1021	P	SPS012	Spastic Paraplegia 3a	26
1022	P	PST016	Posterior Polar Cataract	26
1023		CTR014	Cataract Microcornea Syndrome	26
1024		ACT094	Acute Articular Rheumatism	26
1025	c	JVN015	Juvenile Huntington Disease	26
1026	c	RTN065	Retinitis Pigmentosa 36	26
1027	P	PLM069	Pulmonary Venous Return Anomaly	26
1028	P	QLT011	Qualitative or Quantitative Defects of Sarcoglycan	26
1029	c	MLG145	Malignant Epithelioid Hemangioendothelioma	26
1030	c	CLR097	Ciliary Dyskinesia, Primary, 23	26
1031	c	PK3004	Pik3ca-Related Overgrowth Spectrum	26
1032		SPC030	Specific Language Disorder	26
1033		CHR248	Chromosome 4p Duplication	26
1034	P	MCR327	Microcephaly, Short Stature, and Limb Abnormalities	26
1035	c	CLR125	Ciliary Dyskinesia, Primary, 33	26
1036		ETH012	Ethylene Glycol Poisoning	26
1037		SDH011	Sedoheptulokinase Deficiency	26
1038		PRQ002	Paraquat Poisoning	26
1039		APR009	Aprosencephaly Syndrome	26
1040	c	MTC014	Mitochondrial Dna Deletion Syndromes	26
1041	c	HML034	Hemolytic Uremic Syndrome, Atypical 3	26
1042	c	PRK100	Parkinson Disease 23, Autosomal Recessive Early-Onset	26
1043	c	CLR114	Ciliary Dyskinesia, Primary, 30	26
1044	c	BRG010	Brugada Syndrome 8	26
1045		PRT085	Peritoneal Cystic Mesothelioma	26
1046		PNS015	Penoscrotal Transposition	26
1047		FBR028	Fibrosing Mediastinitis	26
1048		TCK002	Tick Paralysis	26
1049	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	26
1050		PLM189	Pulmonary Arterial Hypertension Associated with Connective Tissue Disease	26
1051	c	ADL080	Adult Acute Respiratory Distress Syndrome	26
1052	c	CLR094	Ciliary Dyskinesia, Primary, 28	26
1053	P	VCT008	Vacterl with Hydrocephalus	26
1054		CRN266	Craniofacial Dyssynostosis with Short Stature	26
1055	c	MNS008	Monosomy 21	26
1056	c	CHL114	Chilblain Lupus 2	26
1057		CNG357	Congenital Symblepharon	25
1058		CRY010	Cryptophthalmos	25
1059	c	HML037	Hemolytic Uremic Syndrome, Atypical 5	25
1060	c	SPS092	Spastic Paraplegia 11	25
1061	c	CTR182	Cataract 23, Multiple Types	25
1062	P	HRD207	Hereditary Transthyretin Amyloidosis	25
1063	P	FML337	Familial Chilblain Lupus	25
1064		STC018	Stac3 Disorder	25
1065	c	HML032	Hemolytic Uremic Syndrome, Atypical 4	25
1066		XNT002	Xanthogranulomatous Cholecystitis	25
1067		SND005	Sandifer Syndrome	25
1068		ATS301	Autosomal Dominant Epilepsy with Auditory Features	25
1069		ULN023	Ulnar Hypoplasia	25
1070	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	25
1071		MCR326	Microcephaly-Micromelia Syndrome	25
1072	c	CHR026	Charcot-Marie-Tooth Disease Type X	25
1073	c	CHR565	Chromosomal Deletion Syndrome	25
1074		OLG014	Oligocone Trichromacy	25
1075		THY042	Thymic Epithelial Tumor	25
1076		PRX086	Paroxysmal Exertion-Induced Dyskinesia	25
1077	c	SPS013	Spastic Paraplegia 8	25
1078		CHR266	Chromosome 8p23.1 Deletion	25
1079		CHR366	Chromosome 5p13 Duplication Syndrome	25
1080		EXR007	Exercise-Induced Anaphylaxis	25
1081	c	CTR116	Cataract 15, Multiple Types	25
1082		DRM043	Dermochondrocorneal Dystrophy	25
1083	c	TRS012	Trisomy 22	25
1084		CHR167	Chorioretinal Atrophy, Progressive Bifocal	25
1085	c	WSK002	Wiskott-Aldrich Syndrome 2	25
1086	c	CLR092	Ciliary Dyskinesia, Primary, 18	25
1087	c	HML036	Hemolytic Uremic Syndrome, Atypical 6	25
1088	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	25
1089		HRP008	Herpes Simiae	25
1090		MYC001	Myoclonic Cerebellar Dyssynergia	25
1091		DSS025	Dissociative Seizures	25
1092	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	25
1093		ADG002	Audiogenic Seizures	25
1094		MTC036	Mitochondrial Membrane Protein-Associated Neurodegeneration	25
1095		RNG030	Ringed Hair	25
1096	c	CTR165	Cataract 19, Multiple Types	25
1097		TTR027	Tetrasomy 15q26	25
1098		HSB001	His Bundle Tachycardia	25
1099	c	GLC054	Glaucoma 3, Primary Congenital, D	25
1100	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	25
1101		NNT021	Neonatal Meningitis	25
1102	P	SYN064	Syndromic X-Linked Intellectual Disability	25
1103	c	JVN058	Juvenile-Onset Parkinson's Disease	25
1104	P	PRK067	Porokeratosis 8, Disseminated Superficial Actinic Type	25
1105	c	TRN053	Transient Pseudohypoaldosteronism	25
1106		CHR704	Chromosome 16p11.2 Deletion Syndrome	25
1107	c	PRK096	Parkinson Disease 13, Autosomal Dominant	25
1108	c	CLR140	Ciliary Dyskinesia, Primary, 40	25
1109	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	25
1110		SCD003	Scedosporiosis	25
1111		WLD006	Wild Type Abeta2m Amyloidosis	25
1112	c	GNR046	Generalized Epilepsy with Febrile Seizures Plus, Type 10	25
1113		PLM061	Pulmonary Edema of Mountaineers	25
1114	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	25
1115	c	CTR105	Cataract 12, Multiple Types	25
1116	c	CLR098	Ciliary Dyskinesia, Primary, 27	25
1117		BRT037	Brittle Diabetes	25
1118	c	PRK094	Parkinson Disease 11, Autosomal Dominant	25
1119		PLY110	Polymicrogyria, Bilateral Temporooccipital	25
1120	c	CLR117	Ciliary Dyskinesia, Primary, 32	25
1121	c	CLR068	Ciliary Dyskinesia, Primary, 5	25
1122		FBR085	Fibrillary Glomerulonephritis	24
1123	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	24
1124		48X002	48,xxxy Syndrome	24
1125	c	TRS025	Torsion Dystonia 2	24
1126		PLM186	Pulmonary Arterial Hypertension Associated with Portal Hypertension	24
1127	c	HRD186	Hereditary Spastic Paraplegia 51	24
1128		UND004	Undetermined Colitis	24
1129	c	RNG017	Ring Chromosome 21	24
1130	P	KRT014	Keratosis Follicularis Spinulosa Decalvans	24
1131		SPR067	Sporadic Adult-Onset Ataxia of Unknown Etiology	24
1132		FNC050	Functioning Gonadotropic Adenoma	24
1133	c	WLL038	Weill-Marchesani Syndrome 3	24
1134	c	VND004	Van Der Woude Syndrome 2	24
1135	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	24
1136		CNG418	Congenital Intrauterine Infection-Like Syndrome	24
1137		GRH005	Graham-Little-Piccardi-Lassueur Syndrome	24
1138	c	CLR099	Ciliary Dyskinesia, Primary, 16	24
1139	c	BRG009	Brugada Syndrome 7	24
1140		HMP028	Hemophagocytic Syndrome Associated with an Infection	24
1141	c	RTN032	Retinal Cone Dystrophy 1	24
1142		ERY023	Erythroplakia	24
1143		NN2002	Non 24 Hour Sleep Wake Disorder	24
1144	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	24
1145	c	PRK099	Parkinson Disease 18, Autosomal Dominant	24
1146		CHR369	Chromosome Xq28 Duplication Syndrome	24
1147	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	24
1148	c	CRN280	Cornea Plana 2, Autosomal Recessive	24
1149	c	MLT094	Multiple Sclerosis 3	24
1150	c	CLR090	Ciliary Dyskinesia, Primary, 22	24
1151		PRG116	Progressive Supranuclear Palsy-Corticobasal Syndrome	24
1152		ISL135	Isolated Dystonia	24
1153	c	CLR105	Ciliary Dyskinesia, Primary, 20	24
1154		CYN003	Cyanide Poisoning	24
1155	c	MYM003	Moyamoya Disease 5	24
1156		MYP114	Myopathy, Scapulohumeroperoneal	24
1157	c	ANT010	Anterior Compartment Syndrome	24
1158		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	24
1159	c	RTN061	Retinitis Pigmentosa 32	24
1160	c	HYP833	Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	24
1161	c	RNG013	Ring Chromosome 18	24
1162		AXL004	Axial Mesodermal Dysplasia Spectrum	24
1163	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	24
1164		CLC053	Colchicine Poisoning	24
1165	c	ATM067	Autoimmune Polyendocrinopathy Type 3	24
1166	P	UNP013	Uniparental Disomy of Chromosome 1	24
1167		SCH055	Schilbach-Rott Syndrome	24
1168	c	CLR139	Ciliary Dyskinesia, Primary, 39	24
1169		HYP181	Hypertrichosis Lanuginosa, Acquired	24
1170		CMB065	Combined Oxidative Phosphorylation Deficiency 26	24
1171	c	RST020	Restless Legs Syndrome 6	24
1172	c	INS009	Insulin-Resistance Type B	24
1173		ACT120	Acute Zonal Occult Outer Retinopathy	24
1174		GRD004	Gardner-Diamond Syndrome	24
1175		SNK001	Snakebite Envenomation	24
1176		DRG016	Drug Induced Dyskinesia	24
1177	P	PHC014	Phocomelia	24
1178		MRN005	Marie Unna Congenital Hypotrichosis	24
1179		LCH008	Lichen Planus Pigmentosus	24
1180	c	ALP039	Alopecia Areata 1	24
1181		KR001	Koro	24
1182	c	DYS068	Dystonia 7, Torsion	24
1183	c	RTN051	Retinitis Pigmentosa 22	24
1184		ART037	Arthrogryposis and Ectodermal Dysplasia	24
1185		NNT018	Neonatal Herpes	24
1186		CMP041	Complement Factor D Deficiency	24
1187		HYP144	Hyperacusis	23
1188		ELC001	Elective Mutism	23
1189		TRG006	Trigger Thumb	23
1190		HYP213	Hypomelanotic Disorder	23
1191	c	SPS039	Spastic Paraplegia 5a	23
1192	c	ALP099	Alopecia, Congenital	23
1193	c	ATS432	Autosomal Dominant Distal Myopathy	23
1194	c	CTR110	Cataract 26, Multiple Types	23
1195	c	CHR699	Charcot-Marie-Tooth Disease Type 2a2a	23
1196	c	CLR054	Ciliary Dyskinesia, Primary, 12	23
1197	P	STR035	Streptococcal Group a Invasive Disease	23
1198	c	SPS025	Spastic Paraplegia 15	23
1199	c	CLR138	Ciliary Dyskinesia, Primary, 38	23
1200	c	FCL056	Facial Paresis, Hereditary Congenital, 3	23
1201		HRL002	Harlequin Syndrome	23
1202		CHR208	Chromosome 17p Deletion	23
1203	c	SYN088	Synpolydactyly 2	23
1204		MCR220	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus	23
1205		NPH027	Nipah Virus Encephalitis	23
1206	c	ADL068	Adult-Onset Nemaline Myopathy	23
1207		CLC064	Calcifying Aponeurotic Fibroma	23
1208	c	MLT093	Multiple Sclerosis 2	23
1209		MYP121	Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	23
1210	c	CNG100	Congenital Herpes Simplex	23
1211	c	MTP014	Metaphyseal Anadysplasia 2	23
1212	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	23
1213		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	23
1214		TRC037	Tracheobronchomalacia	23
1215		PRP090	Peripheral Dysostosis	23
1216		AML005	Amelogenesis Imperfecta Hypomaturation Type	23
1217	c	CTR136	Cataract 41	23
1218		RTR012	Retroperitoneal Liposarcoma	23
1219	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	23
1220	c	MCL071	Macular Dystrophy, Patterned, 2	23
1221		ACT239	Acetyl-Coa Acetyltransferase-2 Deficiency	23
1222		EPL011	Epilepsy, Benign Occipital	23
1223		PNC012	Punctate Epithelial Keratoconjunctivitis	23
1224		PTR034	Paternal Uniparental Disomy	23
1225	c	DYS138	Dystonia 21	23
1226	c	CLR101	Ciliary Dyskinesia, Primary, 25	23
1227	c	CTR162	Cataract 47	23
1228	c	MCR272	Microcephaly and Chorioretinopathy, Autosomal Recessive, 3	23
1229	c	MYP116	Myopathy, Distal, 5	23
1230	c	CTR157	Cataract 28	23
1231	c	CLR107	Ciliary Dyskinesia, Primary, 24	23
1232	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	23
1233	c	RNG021	Ring Chromosome 5	23
1234		DMD001	Demodicidosis	23
1235		CNG092	Congenital Extrahepatic Portosystemic Shunt	23
1236		PST040	Posterior Column Ataxia	23
1237	c	HRD188	Hereditary Spastic Paraplegia 72	23
1238		DSM006	Desmoplastic Infantile Ganglioglioma	23
1239		DBL004	Double Discordia	23
1240	c	SPS036	Spastic Paraplegia 3	23
1241	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	23
1242	c	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	23
1243	c	TRN047	Transient Congenital Hypothyroidism	23
1244		CMP017	Camptocormism	23
1245		GYN003	Gynandroblastoma	23
1246	P	ERL043	Early-Onset Nuclear Cataract	23
1247		DPS001	Dipsogenic Diabetes Insipidus	23
1248	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	23
1249		RDL022	Radial Hemimelia	23
1250		HML054	Hemolytic Disease Due to Fetomaternal Alloimmunization	22
1251		SDD004	Sudden Arrhythmia Death Syndrome	22
1252	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	22
1253	c	SPS027	Spastic Paraplegia 17	22
1254		MYP104	Myopathy, Vacuolar, with Casq1 Aggregates	22
1255	c	CLR142	Ciliary Dyskinesia, Primary, 42	22
1256	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	22
1257		TBS009	Teebi-Shaltout Syndrome	22
1258		ISL116	Isolated Complex Iii Deficiency	22
1259	P	PLM064	Pulmonary Sequestration	22
1260	c	CLR144	Ciliary Dyskinesia, Primary, 44	22
1261	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	22
1262	P	TRC034	Torch Syndrome	22
1263		DPR014	Diprosopus	22
1264	c	MYC085	Myoclonic Epilepsy, Juvenile 3	22
1265		INT093	Interferon Gamma, Receptor 1, Deficiency	22
1266	c	SCN051	Secondary Pulmonary Alveolar Proteinosis	22
1267		PSD043	Pseudopelade of Brocq	22
1268		TTR016	Tetra-Amelia Syndrome	22
1269	c	CLR126	Ciliary Dyskinesia, Primary, 35	22
1270	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	22
1271		CHR247	Chromosome 4p Deletion	22
1272		HVY002	Heavy Metal Poisoning	22
1273		GLC001	Glaucomatocyclitic Crisis	22
1274	c	HRD210	Hereditary Spastic Paraplegia 23	22
1275	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	22
1276		VBR003	Vibrio Vulnificus Infection	22
1277		ADS015	Aids Wasting Syndrome	22
1278		ART109	Arterial Thoracic Outlet Syndrome	22
1279		NCL007	Nuclear Gene-Encoded Leigh Syndrome	22
1280		MNC020	Monoclonal Mast Cell Activation Syndrome	22
1281	c	ICH014	Ichthyosis Lamellar 1	22
1282		PLR025	Pleuroparenchymal Fibroelastosis	22
1283		SDN002	Sudanophilic Cerebral Sclerosis	22
1284		ATR017	Atrial Septal Defect Coronary Sinus	22
1285	P	PTT054	Patterned Macular Dystrophy	22
1286	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	22
1287	c	B4G002	B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	22
1288	c	CTR169	Cataract 29	22
1289	P	RDC012	Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset	22
1290		JMP002	Jumping Frenchmen of Maine	22
1291		PRL021	Perilymphatic Fistula	22
1292	c	CTR184	Cataract 39, Multiple Types	22
1293	c	HYP845	Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive	22
1294		PST047	Post-Traumatic Epilepsy	22
1295	c	CLR088	Ciliary Dyskinesia, Primary, 21	22
1296		PRP101	Peripheral Pulmonary Stenosis	22
1297		ACR107	Acrofacial Dysostosis, Palagonia Type	22
1298		LKN005	Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema	22
1299		RFS003	Refsum Disease, Infantile Form	22
1300		LRY028	Laryngocele	22
1301		GLY054	Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency	22
1302		PSD050	Pseudoxanthoma Elasticum, Forme Fruste	22
1303	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	22
1304	c	RNG019	Ring Chromosome 3	22
1305		HTR005	Heterochromia Iridis	22
1306		HML018	Homologous Wasting Disease	22
1307	P	RTN220	Retinal Ciliopathy	22
1308		CHR241	Chromosome 2q24 Microdeletion Syndrome	22
1309	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	21
1310	c	NNP012	Nanophthalmos 4	21
1311		6QT002	6q Terminal Deletion Syndrome	21
1312		PRG110	Progressive Encephalomyelitis with Rigidity and Myoclonus	21
1313		FND006	Fundus Dystrophy, Pseudoinflammatory, Recessive Form	21
1314		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	21
1315	c	HRN024	Horner Syndrome, Congenital	21
1316	c	SPS239	Spastic Paraplegia 82, Autosomal Recessive	21
1317	c	KRT073	Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	21
1318		SPN356	Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia	21
1319	c	LSS030	Lissencephaly 7 with Cerebellar Hypoplasia	21
1320		GRW021	Growing Teratoma Syndrome	21
1321		PRD026	Pre-Descemet Corneal Dystrophy	21
1322		SPS006	Spastic Monoplegia	21
1323	c	SCN048	Secondary Syringomyelia	21
1324		KRT020	Keratoconus Posticus Circumscriptus	21
1325		NWD001	New Daily-Persistent Headache	21
1326		ERY043	Euryblepharon	21
1327		NWN001	New-Onset Refractory Status Epilepticus	21
1328	c	MTC182	Mitochondrial Dna Depletion Syndrome 16	21
1329	P	PTR018	Paternal Uniparental Disomy of Chromosome 6	21
1330		GTP002	Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia	21
1331	c	ATS209	Autosomal Dominant Secondary Polycythemia	21
1332		ATK002	Atkin-Flaitz Syndrome	21
1333		DRG014	Drug-Induced Autoimmune Hemolytic Anemia	21
1334	c	MCL073	Macular Dystrophy, Vitelliform, 1	21
1335	c	CHR059	Chronic Endophthalmitis	21
1336		SPS087	Spasmus Nutans	21
1337		ISL084	Isolated Trigonocephaly	21
1338		CGH002	Cough Headache	21
1339	c	CLR143	Ciliary Dyskinesia, Primary, 43	21
1340		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	21
1341		HYP642	Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency	21
1342		NNF008	Non-Functioning Paraganglioma	21
1343	c	PSD047	Pseudo-Turner Syndrome	21
1344	c	ANR027	Aneurysm, Intracranial Berry, 1	21
1345	c	GNS004	Geniospasm 1	21
1346		PLV015	Pelvis-Shoulder Dysplasia	21
1347	c	ANT087	Anterior Segment Dysgenesis 6	21
1348		BNT001	Banti's Syndrome	21
1349	c	PRG142	Progressive Myoclonus Epilepsy 3	21
1350	c	ART159	Aortic Valve Disease 3	21
1351	c	CTR106	Cataract 20, Multiple Types	21
1352		13Q001	13q12.3 Microdeletion Syndrome	21
1353		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	21
1354	c	SNG012	Singleton-Merten Syndrome 2	21
1355	c	MLT124	Multiple Sclerosis 5	21
1356	P	QLT041	Qualitative or Quantitative Defects of Alpha-Dystroglycan	21
1357	c	SPS233	Spastic Ataxia 9, Autosomal Recessive	21
1358		CHR567	Chromosome 5q12 Deletion Syndrome	21
1359		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	21
1360	c	CLR124	Ciliary Dyskinesia, Primary, 34	21
1361	c	CHR465	Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity	21
1362	c	EPL217	Epilepsy, Juvenile Myoclonic 10	21
1363	c	PRS058	Prosopagnosia, Hereditary	21
1364		SYN120	Syndromic Oculocutaneous Albinism	21
1365	c	CRB168	Cerebroretinal Microangiopathy with Calcifications and Cysts 2	21
1366		BLL015	Bullous Lichen Planus	21
1367	c	NYS003	Nystagmus 2, Congenital, Autosomal Dominant	21
1368		MRF007	Marfanoid Hypermobility Syndrome	21
1369		VRV001	Ververi-Brady Syndrome	21
1370		PLY039	Polymorphic Reticulosis	21
1371		TLN007	Telangiectasia, Hereditary Benign	21
1372	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	21
1373		MYC016	Mycobacterium Gordonae	21
1374	c	NNP017	Nanophthalmos 1	21
1375		MYP060	Myopic Macular Degeneration	21
1376	c	FBR079	Fibromatosis, Gingival, 2	21
1377	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	21
1378		CRN156	Craniofacioskeletal Syndrome	21
1379	c	MCL061	Macular Dystrophy, Vitelliform, 4	21
1380		PTY005	Pityriasis Lichenoides Chronica	21
1381		ACH039	Achalasia-Microcephaly Syndrome	21
1382		NDD001	Nodding Syndrome	21
1383		AP4001	Ap-4-Associated Hereditary Spastic Paraplegia	20
1384		CMB039	Combined Pulmonary Fibrosis-Emphysema Syndrome	20
1385	c	ADL084	Adult-Onset Myasthenia Gravis	20
1386		CRY024	Crystal Arthropathies	20
1387	P	SPN237	Spina Bifida Aperta	20
1388		MYC021	Mycobacterium Xenopi	20
1389		CGT001	Ciguatera Fish Poisoning	20
1390		MRZ001	Mirizzi Syndrome	20
1391		QLT002	Qualitative or Quantitative Defects of Dystrophin	20
1392		CRT060	Cor Triatriatum Sinister	20
1393	P	CTS012	Cutis Verticis Gyrata	20
1394		CMP039	Camptodactyly 1	20
1395		LPS019	Lupus Erythematosus Tumidus	20
1396		RCK009	Rickettsial Disease	20
1397	c	MCL056	Macular Dystrophy, Vitelliform, 5	20
1398	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	20
1399		MTR027	Mitral Atresia	20
1400		PRM157	Primary Progressive Freezing Gait	20
1401	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	20
1402	c	CHR692	Chronic Encephalitis	20
1403		ART056	Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay	20
1404	c	BRN073	Branchiootic Syndrome 2	20
1405	c	GLC089	Glaucoma 3, Primary Congenital, E	20
1406	c	HYP573	Hypotrichosis 5	20
1407		ANT065	Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis	20
1408		UNL013	Unilateral Absence of a Pulmonary Artery	20
1409	c	CTR159	Cataract 35	20
1410		CHR416	Chromosome 17q Deletion	20
1411		FBR087	Fibromatosis, Gingival, with Distinctive Facies	20
1412	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	20
1413		GLC025	Galactorrhoea-Hyperprolactinaemia	20
1414		TRN067	Transcobalamin I Deficiency	20
1415	c	BRC105	Brachydactyly, Type A1, D	20
1416	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	20
1417		INT232	Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	20
1418		FCC003	Faciocardiomelic Dysplasia, Lethal	20
1419	c	CTR144	Cataract 43	20
1420		CRB164	Cerebrooculonasal Syndrome	20
1421		TMP006	Temporomandibular Ankylosis	20
1422		NND001	Nondystrophic Myotonia	20
1423		ATY025	Atypical Glycine Encephalopathy	20
1424		RTH002	Rutherfurd Syndrome	20
1425		ACT191	Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion	20
1426		ACT174	Acute Peripheral Arterial Occlusion	20
1427	c	NNT025	Neonatal Systemic Lupus Erythematosus	20
1428	P	CNG515	Congenital Zika Syndrome	20
1429	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	20
1430		MLN084	Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation	20
1431	c	RNG025	Ring Chromosome 9	20
1432		CLF021	Cleft Palate X-Linked	20
1433	c	MYC086	Myoclonic Epilepsy, Juvenile 4	20
1434	P	STR111	Stromal Corneal Dystrophy	20
1435		LVC002	Levocardia	20
1436	c	CLR145	Ciliary Dyskinesia, Primary, 45	20
1437		DSS012	Disseminated Infection with Mycobacterium Avium Complex	20
1438		PYT001	Pythiosis	20
1439		FWL003	Fowler Urethral Sphincter Dysfunction Syndrome	20
1440	c	PRK022	Parkinson Disease 12	20
1441	c	HYP578	Hypotrichosis 12	20
1442	c	SPS214	Spastic Ataxia 4	20
1443		DST059	Distal Trisomy 17q	20
1444		CRB155	Carbonic Anhydrase Va Deficiency	20
1445	c	CLR141	Ciliary Dyskinesia, Primary, 41	20
1446	c	EPS033	Episodic Ataxia, Type 8	20
1447		HYD031	Hydroxyprolinemia	20
1448		HRD090	Harderoporphyria	20
1449		HPS001	Hip Subluxation	20
1450	c	CTR139	Cataract 42	20
1451		RTN037	Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma	19
1452		MLG087	Malignant Cylindroma	19
1453		FCD002	Faciodigitogenital Syndrome, Autosomal Recessive	19
1454	c	HYP832	Hypotrichosis 14	19
1455		MCR330	Microphthalmia, Isolated, with Cataract 1	19
1456	c	RNG012	Ring Chromosome 17	19
1457		HML010	Hemolytic Anemia Due to Glutathione Reductase Deficiency	19
1458		MSC017	Mosaic Trisomy 22	19
1459	P	CHR200	Chromosome 16 Trisomy	19
1460		EXT063	Extrapelvic Endometriosis	19
1461		THN005	Thunderclap Headache	19
1462		BRC046	Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia	19
1463	c	INF152	Infectious Posterior Uveitis	19
1464	c	SPS041	Spastic Paraplegia 6	19
1465	c	ATS454	Autosomal Trisomy	19
1466		VGN031	Vaginal Atresia	19
1467		CHR612	Chromosome 15q14 Deletion Syndrome	19
1468		FRN028	Furunculous Myiasis	19
1469		BSL043	Basal Ganglia Calcification, Idiopathic, Childhood-Onset	19
1470	c	SPS171	Spastic Ataxia 5	19
1471		DYS134	Dysspondyloenchondromatosis	19
1472	c	JVN046	Juvenile Polymyositis	19
1473		DHY008	Dihydroxyadeninuria	19
1474	c	SPR070	Sporadic Infantile Bilateral Striatal Necrosis	19
1475		LVT001	Levator Syndrome	19
1476		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	19
1477		ISL085	Isolated Agammaglobulinemia	19
1478		LNR010	Linear Lichen Planus	19
1479	c	CHR686	Chronic Cutaneous Lupus Erythematosus	19
1480	c	SPS229	Spastic Ataxia 8	19
1481	c	FCL030	Facial Paresis, Hereditary Congenital, 1	19
1482		RTN185	Retinal Dysplasia, Primary	19
1483	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	19
1484	c	SLV029	Silver-Russell Syndrome 2	19
1485		HYD050	Hydrocephalus, Endocardial Fibroelastosis, and Cataracts	19
1486		LCT008	Lactate Dehydrogenase Deficiency	19
1487	c	DYS184	Dystonia 17, Torsion, Autosomal Recessive	19
1488		AND005	Androgen Insensitivity Syndrome, Mild	19
1489		PHC015	Phacoanaphylactic Uveitis	19
1490		PRR029	Pierre Robin Syndrome and Oligodactyly	19
1491	c	ANM039	Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	19
1492		MCR311	Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome	19
1493		1Q4001	1q44 Microdeletion Syndrome	19
1494	c	MTC204	Mitochondrial Dna Depletion Syndrome 18	19
1495	c	PRG146	Progressive Myoclonus Epilepsy 9	19
1496	c	CTR160	Cataract 45	19
1497	c	FBR092	Fibromatosis, Gingival, 5	19
1498		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	19
1499	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	19
1500	c	PRG145	Progressive Myoclonus Epilepsy 6	19
1501		EXT061	Extracardiac Rhabdomyoma	19
1502	c	CHR227	Chromosome 20 Trisomy	19
1503		16P004	16p13.11 Microduplication Syndrome	19
1504		PSD079	Pseudoangiomatous Stromal Hyperplasia	19
1505		16P003	16p13.11 Microdeletion Syndrome	19
1506	c	MLT095	Multiple Sclerosis 4	19
1507		EGL001	Eagle Syndrome	19
1508	c	RNG006	Ring Chromosome 11	19
1509		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	19
1510		SMC003	Semicircular Canal Dehiscence Syndrome	19
1511		BDR001	Bidirectional Tachycardia	19
1512	P	PRM210	Primary Lipodystrophy	19
1513		EPG004	Epignathus	19
1514		IQS001	Iqsec2	19
1515	c	CRN279	Cornea Plana 1, Autosomal Dominant	19
1516		HST018	Histiocytosis, Progressive Mucinous	19
1517		VRR008	Verrucous Hemangioma	19
1518		HVY003	Heavy Chain Deposition Disease	19
1519		MDS024	Mediastinal Endodermal Sinus Tumors	19
1520	c	SPN259	Spinocerebellar Ataxia 32	19
1521		LWF001	Low-Flow Priapism	19
1522	c	SPS191	Spastic Ataxia 7, Autosomal Dominant	19
1523		PCH004	Pachygyria, Frontotemporal	19
1524		CHL084	Cholesterol Pneumonia	19
1525	P	HYP252	Hypochromic Microcytic Anemia with Iron Overload	18
1526		HMF007	Hemifacial Hyperplasia with Strabismus	18
1527	c	SPS170	Spastic Ataxia 2	18
1528		BRH001	Boerhaave Syndrome	18
1529		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	18
1530	c	PRM209	Primary Trimethylaminuria	18
1531		ALN003	Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus	18
1532	P	RFR014	Refractory Anemia with Excess Blasts Type 2	18
1533		EDN001	Edinburgh Malformation Syndrome	18
1534		CYT006	Cytoplasmic Body Myopathy	18
1535	c	PRM188	Primary Cutis Verticis Gyrata	18
1536		CHR219	Chromosome 19q13.11 Deletion Syndrome	18
1537		QLT009	Qualitative or Quantitative Defects of Caveolin-3	18
1538		GLT036	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to	18
1539		KRT065	Keratosis Follicularis, Dwarfism, and Cerebral Atrophy	18
1540	c	UNP012	Uniparental Disomy of Chromosome 7	18
1541		ELS004	Elastofibroma Dorsi	18
1542		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	18
1543		MCR279	Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	18
1544		17Q009	17q12 Recurrent Deletion Syndrome	18
1545		RTC011	Reticular Dystrophy of Retinal Pigment Epithelium	18
1546	c	CNG121	Congenital Pulmonary Alveolar Proteinosis	18
1547	c	CNG579	Congenital Nemaline Myopathy	18
1548	c	MYP158	Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	18
1549	P	MTC195	Mitochondrial Oxidative Phosphorylation Disorder	18
1550	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	18
1551		MLT131	Multifocal Atrial Tachycardia	18
1552		AMY010	Amyloidosis Beta2m	18
1553		CNT088	Central Cloudy Dystrophy of Francois	18
1554		GLC039	Glucosephosphate Isomerase Deficiency	18
1555	c	ERL044	Early-Onset Posterior Polar Cataract	18
1556		TRT005	Teratoma with Malignant Transformation	18
1557		LGR001	Laugier-Hunziker Syndrome	18
1558		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	18
1559		TRC052	Trichofolliculoma	18
1560		17Q012	17q24.2 Microdeletion Syndrome	18
1561		HHV001	Hhv-6 Encephalitis	18
1562		UNL015	Unilateral Aplasia of the Mullerian Ducts	18
1563		CCC003	Coccygodynia	18
1564		GLY074	Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset	18
1565		LMB056	Lumbosacral Spina Bifida Cystica	18
1566		IGG013	Igg4-Related Pachymeningitis	18
1567		PPL038	Papular Xanthoma	18
1568		LMB057	Lumbosacral Spina Bifida Aperta	18
1569		CTM001	Catamenial Pneumothorax	18
1570		SWY003	Swyer-James Syndrome	18
1571		DYT005	Dyt-Thap1	18
1572		IDP047	Idiopathic Panuveitis	18
1573		ICH025	Ichthyosis, Follicular	18
1574	c	TRN062	Transient Neonatal Myasthenia Gravis	18
1575	c	CTR178	Cataract 27	18
1576		SYM006	Symmetrical Thalamic Calcifications	18
1577	P	WHS002	Whistling Face Syndrome, Recessive Form	18
1578		MTH011	Methionine Adenosyltransferase Deficiency	18
1579		MYX011	Myxozoa	17
1580	P	HRD043	Hereditary Congenital Facial Paresis	17
1581		GLM036	Gliomatosis Peritonei	17
1582	P	PYR006	Pyridoxine-Responsive Sideroblastic Anemia	17
1583		PPL053	Papillomatosis, Florid, of Nipple	17
1584		TYP044	Type 1 Interferonopathy	17
1585		MYS028	Myospherulosis	17
1586		VNT036	Ventilator-Induced Diaphragmatic Dysfunction	17
1587	c	CHR700	Charcot-Marie-Tooth Disease Type 2a2b	17
1588		7P2001	7p22.1 Microduplication Syndrome	17
1589	c	SPS028	Spastic Paraplegia 18	17
1590		ANL019	Anal Sphincter Dysplasia	17
1591		CNG491	Congenital Portosystemic Shunt	17
1592	c	ACQ039	Acquired Purpura Fulminans	17
1593		SPR065	Supernumerary Nostril	17
1594		BRC096	Brachydactyly-Distal Symphalangism Syndrome	17
1595		CTN020	Cutaneous Sclerosis	17
1596		MDL024	Madelung Deformity	17
1597	c	INF047	Infantile Free Sialic Acid Storage Disease	17
1598		RMT001	Remitting Seronegative Symmetrical Synovitis with Pitting Edema	17
1599		LTN011	Late-Onset Isolated Acth Deficiency	17
1600	c	JVN045	Juvenile Ossifying Fibroma	17
1601	c	PSD121	Pseudo-Torch Syndrome 3	17
1602		CTN034	Cutaneous Myiasis	17
1603		TRG017	Trigeminal Trophic Syndrome	17
1604		SPR072	Superficial Pemphigus	17
1605	c	CHR571	Charcot-Marie-Tooth Disease Type 5	17
1606	c	ALP040	Alopecia Areata 2	17
1607	P	ATS469	Autosomal Monosomy	17
1608	c	SLV031	Silver-Russell Syndrome 5	17
1609		ZBR001	Zebra Body Myopathy	17
1610		TRP010	Treponema Infection	17
1611		PLY134	Polydactyly, Postaxial, with Dental and Vertebral Anomalies	17
1612	c	TTL008	Total Spina Bifida Cystica	17
1613		UPP008	Upper Thoracic Spina Bifida Aperta	17
1614		THR085	Thoracolumbosacral Spina Bifida Aperta	17
1615		DBL010	Double-Orifice Mitral Valve	17
1616		CRN192	Craniorhiny	17
1617		ACR078	Acral Self-Healing Collodion Baby	17
1618	c	INH022	Inherited Ichthyosis	17
1619		STN005	St Anthony's Fire	17
1620		3Q2006	3q27.3 Microdeletion Syndrome	17
1621		MSC079	Mosaic Trisomy 1	17
1622		BRC116	Brachial Amelia, Cleft Lip, and Holoprosencephaly	17
1623	c	INF055	Infectious Myocarditis	17
1624		BKS002	Book Syndrome	17
1625		SPS196	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	17
1626		HMR013	Hemorrhagic Proctocolitis	17
1627		SPN133	Spondyloepimetaphyseal Dysplasia with Multiple Dislocations	17
1628		MD1003	Med13l Haploinsufficiency Syndrome	17
1629		BRC100	Brachydactyly, Combined B and E Types	17
1630		CLS032	Clostridium Perfringens Infection	17
1631		ORN004	Ornithinemia	17
1632	c	CLS053	Cluster Headache, Familial	17
1633	P	NDL017	Nodular Cutaneous Amyloidosis	17
1634	c	PRK058	Parkinson Disease 16	17
1635	c	PRG141	Progressive Myoclonus Epilepsy 10	17
1636		PNT023	Pontine Hemorrhage	17
1637		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	17
1638		BSL041	Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant	17
1639		ZNC005	Zinc-Responsive Necrolytic Acral Erythema	17
1640	c	CNG619	Congenital Aplastic Anemia	17
1641		ANT063	Anti-P200 Pemphigoid	17
1642		FCL087	Facial Infiltrating Lipomatosis	17
1643	c	PST077	Posterior Meningocele	17
1644		XP2001	Xp22.3 Microdeletion Syndrome	17
1645		PLM108	Pulmonary Interstitial Glycogenosis	17
1646		CRN287	Carnitine Deficiency, Myopathic	17
1647	c	LTN017	Late-Infantile/juvenile Krabbe Disease	17
1648		RSM002	Rasmussen Johnsen Thomsen Syndrome	17
1649		PRP069	Purpura Simplex	17
1650		CHR184	Chromosome 10q Duplication	17
1651		CNG609	Congenital Left Ventricular Aneurysm	17
1652		JVN060	Juvenile Idiopathic Inflammatory Myopathy	17
1653		RDT004	Radiation Induced Brachial Plexopathy	17
1654		APD001	Apo a-I Deficiency	17
1655		HYP696	Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome	17
1656		GND015	Gonadal Germ Cell Tumor	17
1657	c	MTC200	Mitochondrial Dna Depletion Syndrome 17	17
1658	c	PRG148	Progressive Myoclonus Epilepsy 1a	17
1659	c	SYN073	Syngap1-Related Intellectual Disability	17
1660		DRL001	Dural Sinus Malformation	16
1661	P	CNG600	Congenital Arteriovenous Fistula	16
1662		HYP479	Hyperinsulinism Due to Hnf4a Deficiency	16
1663	c	RNG014	Ring Chromosome 19	16
1664	c	NYS016	Nystagmus 7, Congenital, Autosomal Dominant	16
1665	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	16
1666		EMR002	Emerinopathy	16
1667		CHR257	Chromosome 6q Deletion	16
1668	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	16
1669	c	RSP027	Respiratory Papillomatosis, Juvenile Recurrent, Congenital	16
1670		ALN006	Alien Hand Syndrome	16
1671	c	RNG011	Ring Chromosome 16	16
1672		RDC003	Red Cell Phospholipid Defect with Hemolysis	16
1673	c	MCR282	Microcephaly and Chorioretinopathy 1	16
1674	c	CNG433	Congenital Cornea Plana	16
1675		TRS010	Trisomy 17 Mosaicism	16
1676		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	16
1677		CNG330	Congenital Megacalycosis	16
1678		PCT002	Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails	16
1679		PRX013	Proximal Chromosome 18q Deletion Syndrome	16
1680	c	UNP011	Uniparental Disomy of Chromosome 14	16
1681		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	16
1682		ART091	Aorto-Ventricular Tunnel	16
1683		NND006	Non-Distal Monosomy 20q	16
1684		SLT007	Solitary Rectal Ulcer Syndrome	16
1685		3P2001	3p25.3 Microdeletion Syndrome	16
1686		TYS007	Tyshchenko Syndrome	16
1687		CMM018	Common Mesentery	16
1688		SYR004	Syringobulbia	16
1689	c	CTR128	Cataract 33	16
1690		GMB001	Gombo Syndrome	16
1691		SBP005	Subpulmonary Stenosis	16
1692	c	MCH014	Machado-Joseph Disease Type 2	16
1693	c	PRG143	Progressive Myoclonus Epilepsy 7	16
1694		GLC088	Glaucoma and Sleep Apnea	16
1695		LMB071	Lambotte Syndrome	16
1696		CLF033	Cleft Mitral Valve	16
1697	c	SPS163	Spastic Ataxia 3	16
1698		ANT040	Anton's Syndrome	16
1699		THM025	Thumbs, Congenital Clasped	16
1700		PRS110	Persistent Placoid Maculopathy	16
1701		16P008	16p11.2 Duplication	16
1702		8Q1001	8q12 Microduplication Syndrome	16
1703		FRS011	First Branchial Cleft Anomaly	16
1704	c	PTR011	Paternal Uniparental Disomy of Chromosome 1	16
1705		CRV046	Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction	16
1706		ISL118	Isolated Tracheoesophageal Fistula	16
1707	c	CNG596	Congenital Ectropion	16
1708		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	16
1709		HYP689	Hypomelia with Mullerian Duct Anomalies	16
1710		ECT023	Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	16
1711	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	16
1712	c	EPL186	Epilepsy, Juvenile Myoclonic 9	16
1713		PFF010	Pfeiffer-Palm-Teller Syndrome	16
1714		AMR007	Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis	16
1715		TRP023	Triphalangeal Thumbs and Dislocation of Patella	16
1716		KSH003	Kshv Inflammatory Cytokine Syndrome	16
1717	c	EPL254	Epilepsy, Progressive Myoclonic, 11	16
1718		LTH004	Lathyrism	16
1719		ANP032	Anaplastic Pleomorphic Xanthoastrocytoma	16
1720	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	16
1721		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	16
1722		BRZ001	Brazilian Hemorrhagic Fever	16
1723		ECT087	Ectodermal Dysplasia, Trichoodontoonychial Type	16
1724		CRN308	Coronary Arterial Fistula	16
1725	c	ZKV002	Zika Virus Congenital Syndrome	16
1726		ACT170	Acute Ackee Fruit Intoxication	16
1727	c	SPS023	Spastic Paraplegia 13	16
1728		BSC003	Buschke Lowenstein Tumor	16
1729		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	16
1730		PRP068	Propriospinal Myoclonus	16
1731		HYP727	Hypoglossia with Situs Inversus	16
1732		TRC120	Tricarboxylic Acid Cycle, Defect of	16
1733	c	GLC052	Glaucoma 3, Primary Congenital, C	16
1734		DYS053	Dystelephalangy	16
1735		DST035	Distal Trisomy 18q	16
1736	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	16
1737		CHR220	Chromosome 1p Deletion	15
1738		WYR003	Weyers Ulnar Ray/oligodactyly Syndrome	15
1739		LJN002	Lujan Syndrome	15
1740	c	MTR067	Maternal Uniparental Disomy of Chromosome 16	15
1741		MSP003	Misophonia	15
1742		GRN021	Granulomatous Rosacea	15
1743		LKT001	Leukotriene C4 Synthase Deficiency	15
1744	c	MCL026	Macular Dystrophy, Retinal, 3	15
1745	c	HYP551	Hypotrichosis 9	15
1746	c	PRR032	Pura-Related Neurodevelopmental Disorders	15
1747		OVR073	Ovarian Remnant Syndrome	15
1748		ISL134	Isolated Craniosynostosis	15
1749		PPL027	Papular Urticaria	15
1750	c	KMT002	Kmt2b-Related Dystonia	15
1751		CHR250	Chromosome 4q Duplication	15
1752	c	GRV009	Graves Disease 2	15
1753		CTT001	Catatrichy	15
1754		MCR340	Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate	15
1755		XLN223	X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	15
1756	c	FCL050	Facial Paresis, Hereditary Congenital, 2	15
1757		CHR263	Chromosome 7q Duplication	15
1758		ATS285	Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	15
1759		CHS007	Chester Porphyria	15
1760		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	15
1761		TRM021	Tremor, Nystagmus, and Duodenal Ulcer	15
1762		CTN018	Cutaneous Photosensitivity and Colitis, Lethal	15
1763		XLN133	X-Linked Intellectual Disability, Shashi Type	15
1764		MSM003	Mesomelia	15
1765		SPR145	Superficial Fibromatosis	15
1766	c	ALP036	Alopecia, Androgenetic, 2	15
1767	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	15
1768		CRY029	Cryptomicrotia-Brachydactyly Syndrome	15
1769	c	HYP544	Hypotrichosis 10	15
1770		DYS038	Dysgnathia Complex	15
1771		PRP033	Properdin Deficiency	15
1772	c	RFR015	Refractory Anemia with Excess Blasts Type 1	15
1773		LMB009	Lambdoid Synostosis	15
1774		SHN001	Shone Complex	15
1775		CHR199	Chromosome 15q Duplication	15
1776		VCT002	Vacterl Association with Hydrocephaly, X-Linked	15
1777		ADC008	Adactylia, Unilateral	15
1778	c	FBR077	Fibromatosis, Gingival, 3	15
1779	c	FBR080	Fibromatosis, Gingival, 4	15
1780		PRT107	Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	15
1781		CHR238	Chromosome 2p Duplication	15
1782		CHR264	Chromosome 8p Deletion	15
1783		GNT042	Genetic Recurrent Myoglobinuria	15
1784		MCR242	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	15
1785		FBR024	Fibrocartilaginous Embolism	15
1786	c	SPS042	Spastic Paraplegia 9	15
1787		CHR181	Chromosome 10p Deletion	15
1788		SBM006	Submucosal Cleft Palate	15
1789		CRT056	Carotidynia	15
1790	c	CTR176	Cataract, Age-Related Nuclear	15
1791		EXR004	Exertional Headache	15
1792	c	FRM005	Frmd7-Related Infantile Nystagmus	15
1793	c	RRM002	Rrm2b-Related Mitochondrial Disease	15
1794		ARC024	Aurocephalosyndactyly	15
1795		GRN020	Granulomatous Hypophysitis	15
1796		ARB003	Arbovirosis	15
1797	c	UNP008	Uniparental Disomy of Chromosome 15	15
1798	c	RNG031	Ring Chromosome Y Syndrome	15
1799		ISL072	Isolated Levocardia	15
1800	c	SPN107	Spinocerebellar Ataxia 9	15
1801		ART027	Aorta-Pulmonary Artery Fistula	15
1802		FNG010	Fingerprint Body Myopathy	15
1803		MSC015	Mosaic Trisomy 13	15
1804		CNG248	Congenital Smooth Muscle Hamartoma	15
1805		HYP468	Hyperkeratosis-Hyperpigmentation Syndrome	15
1806		DST082	Distal Trisomy 10q	15
1807	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	15
1808		DSM005	Desmoplastic Infantile Astrocytoma	15
1809		INT176	Intraocular Medulloepithelioma	15
1810		CNG067	Congenital Cystic Eye	15
1811		NSP010	Nasopharyngeal Teratoma	15
1812		DBL009	Double Inferior Vena Cava	15
1813		ITR003	Iatrogenic Creutzfeldt-Jakob Disease	15
1814		TRP027	Triphalangeal Thumb, Nonopposable	15
1815		PRS132	Parasomnia, Sleep Bruxism Type	15
1816	c	SPS032	Spastic Paraplegia 24	15
1817		IDP043	Idiopathic Uveal Effusion Syndrome	15
1818		CLL035	Collagen Type Iii Glomerulopathy	15
1819		MRG007	Morgellons	15
1820		MYL019	Myeloid Splenomegaly	15
1821		CRD014	Cardiac Diverticulum	15
1822		TRM018	Traumatic Avascular Necrosis	15
1823		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	15
1824		CHR272	Chromosome 9q Duplication	15
1825		HNR001	Heiner Syndrome	15
1826		WHB001	Wahab Syndrome	15
1827		FBR022	Febrile Ulceronecrotic Mucha-Habermann Disease	15
1828		ACH040	Achoo Syndrome	15
1829		GLM046	Glomus Vagale Tumor	15
1830		CHR261	Chromosome 7p Duplication	15
1831	P	PLM179	Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia	15
1832	c	CV3001	Cav3-Related Distal Myopathy	15
1833		HYP497	Hyperphalangy	15
1834	c	BCL018	Bcl11a-Related Intellectual Disability	15
1835		PST037	Pasteurella Multocida Infection	14
1836		TRC064	Trochlear Dysplasia	14
1837		PLM062	Pulmonary Hyalinizing Granuloma	14
1838		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	14
1839		RCT024	Reactive Angioendotheliomatosis	14
1840	c	PRK095	Porokeratosis 4, Disseminated Superficial Actinic Type	14
1841	c	MYC055	Mycobacterium Tuberculosis 3	14
1842		PRG036	Progressive Transformation of Germinal Centers	14
1843	c	UNP007	Uniparental Disomy of Chromosome 6	14
1844		DLT013	Deletion 5q35	14
1845		NNT054	Neonatal Alloimmune Neutropenia	14
1846		CMP079	Complete Septate Uterus	14
1847		SYN112	Syndromic Microphthalmia-Anophthalmia-Coloboma	14
1848		ACR022	Acardia	14
1849		APV001	Aapoaiv Amyloidosis	14
1850		KNS003	Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis	14
1851		TBR012	Tuberculous Uveitis	14
1852		MXL011	Maxillofacial Dysostosis	14
1853		PNS014	Penis Agenesis	14
1854		GSB001	Gas Bloat Syndrome	14
1855	P	LTH050	Lethal Chondrodysplasia	14
1856		UNC008	Unclassified Myelodysplastic Syndrome	14
1857	c	MYC054	Mycobacterium Tuberculosis 2	14
1858		CHR194	Chromosome 13q Duplication	14
1859		NNH006	Non-Herpetic Acute Limbic Encephalitis	14
1860		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	14
1861		IRS009	Iris Hypoplasia with Glaucoma	14
1862	c	WSK003	Wiskott-Aldrich Syndrome, Autosomal Dominant Form	14
1863		MSC080	Mosaic Trisomy 12	14
1864		CHR240	Chromosome 2q Duplication	14
1865		ANN013	Annular Atrophic Lichen Planus	14
1866		DGT004	Digitalis Poisoning	14
1867		INT102	Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity	14
1868		MDM005	Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	14
1869		DRT002	Duarte Variant Galactosemia	14
1870		CLF036	Cleft Tongue	14
1871		STR070	Startle Epilepsy	14
1872		DST055	Distal 22q11.2 Microduplication Syndrome	14
1873		BSL013	Basaloid Follicular Hamartoma	14
1874		CHR214	Chromosome 18q Duplication	14
1875		TLN004	Talonavicular Coalition	14
1876		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	14
1877	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	14
1878	c	HNT014	Huntington Disease-Like Syndrome Due to C9orf72 Expansions	14
1879		ITC001	Itch E3 Ubiquitin Ligase Deficiency	14
1880		HYP660	Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	14
1881		ART130	Arthrogryposis with Hyperkeratosis	14
1882		MYS071	Myasthenia, Limb-Girdle, Autoimmune	14
1883		THR122	Thoracic Malformation	14
1884		CHR196	Chromosome 14q Duplication	14
1885	c	ANR028	Aneurysm, Intracranial Berry, 3	14
1886	c	ANR050	Aneurysm, Intracranial Berry, 12	14
1887		NCT004	N Acetyltransferase Deficiency	14
1888		CNG472	Congenital Insensitivity to Pain with Severe Intellectual Disability	14
1889		SPN357	Spondyloepimetaphyseal Dysplasia, Micromelic	14
1890	c	CNG263	Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs	14
1891	c	ADL074	Adult-Onset Distal Myopathy Due to Vcp Mutation	14
1892		CNG120	Congenital Pseudoarthrosis	14
1893		PDT046	Pediatric-Onset Graves Disease	14
1894		GST058	Gestational Diabetes Insipidus	14
1895		ORB018	Orbital Leiomyoma	14
1896		CLS034	Clostridium Septicum Infection	14
1897		PHR010	Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome	14
1898		CHR249	Chromosome 4q Deletion	14
1899		TRC061	Trichostasis Spinulosa	14
1900		CHR207	Chromosome 16q Duplication	14
1901	c	SPS038	Spastic Paraplegia 39	14
1902		SCN063	Scn2a Related Disorders	14
1903		CHR256	Chromosome 6p Duplication	14
1904	c	BCT018	Bacterial Myositis	14
1905		TRG013	Trigeminal Autonomic Cephalalgia	14
1906		CRY037	Cryptophthalmia	14
1907		GLT037	Gluteal Muscles, Absence of	14
1908	c	NNP008	Nanophthalmos 3	14
1909		DPL003	Diploid-Triploid Mosaicism	14
1910	c	ANR011	Aneurysm, Intracranial Berry, 2	14
1911	c	SLV030	Silver-Russell Syndrome 4	14
1912		ETH013	Euthyroid Graves Orbitopathy	14
1913		AMB005	Amoebiasis Due to Free-Living Amoebae	14
1914	P	ICH074	Ichthyosis, Lamellar, Autosomal Dominant	14
1915	c	PSD024	Pseudo Pelger-Huet Anomaly	14
1916		ISD002	Isodicentric Chromosome 15 Syndrome	14
1917		LNR012	Linear Verrucous Nevus Syndrome	14
1918	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	14
1919		CHR244	Chromosome 3p Duplication	14
1920		EXG001	Exogenous Ochronosis	14
1921		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	14
1922	c	PRK097	Porokeratosis 5, Disseminated Superficial Actinic Type	14
1923		PPL044	Papular Elastorrhexis	14
1924		CHR198	Chromosome 15q Deletion	13
1925		ACC011	Accessory Mitral Valve Tissue	13
1926		ISL128	Isolated Microspherophakia	13
1927		JXT004	Juxtaposition of the Atrial Appendages	13
1928		CHR254	Chromosome 5q Duplication	13
1929		CHR468	Chronic Pneumonitis of Infancy	13
1930		LFT005	Left-Sided Gallbladder	13
1931	c	ACQ026	Acquired Pseudoxanthoma Elasticum	13
1932		DBS003	Dibasic Amino Aciduria I	13
1933		CHR183	Chromosome 10q Deletion	13
1934	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	13
1935		SHR117	Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms	13
1936		ORB016	Orbital Varix	13
1937		MCR186	Microtriplication 11q24.1	13
1938		PRM153	Primary Progressive Apraxia of Speech	13
1939		FMR007	Femur Bifid with Monodactylous Ectrodactyly	13
1940		URC012	Urachal Sinus	13
1941		CNG400	Congenital Hereditary Endothelial Dystrophy Type I	13
1942		EPL095	Epilepsy with Myoclonic Absences	13
1943	c	SPS022	Spastic Paraplegia 12	13
1944	c	SPS029	Spastic Paraplegia 19	13
1945		SML040	Smoldering Systemic Mastocytosis	13
1946	c	TRN078	Transient Antenatal Bartter Syndrome	13
1947		ANN015	Anonychia with Flexural Pigmentation	13
1948		ONY004	Onychocytic Matricoma	13
1949		SPN414	Spondylometaphyseal Dysplasia, East African Type	13
1950	c	DPD002	Depdc5-Related Epilepsy	13
1951		ICH018	Ichthyosis Linearis Circumflexa	13
1952		DYS181	Dyssegmental Dysplasia with Glaucoma	13
1953		PRX083	Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	13
1954		SVR061	Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	13
1955	c	MYM005	Moyamoya Disease 3	13
1956		CHR274	Chromosome Xq Duplication	13
1957	c	CSK002	Cask-Related Intellectual Disability	13
1958		HYP482	Hyperinsulinism Due to Ucp2 Deficiency	13
1959	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	13
1960		ACR113	Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma	13
1961	c	FCL065	Facial Palsy, Familial Recurrent Peripheral	13
1962		ANN009	Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly	13
1963	c	RST013	Restless Legs Syndrome 2	13
1964		DYT003	Dyt-Gnal	13
1965		SBP003	Subependymal Nodular Heterotopia	13
1966		CHR192	Chromosome 12q Duplication	13
1967		PST104	Postaxial Oligodactyly, Tetramelic	13
1968		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	13
1969		CRN039	Carnitine Acetyltransferase Deficiency	13
1970	c	TRS027	Torsion Dystonia 4	13
1971		CHR271	Chromosome 9q Deletion	13
1972		MGL007	Megalocytic Interstitial Nephritis	13
1973	P	MYP124	Myopathy, Distal, Infantile-Onset	13
1974		MCR367	Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	13
1975		PRT237	Partial Deletion of the Long Arm of Chromosome 16	13
1976	c	RST014	Restless Legs Syndrome 3	13
1977		DST013	Distal Myopathy with Vocal Cord Weakness	13
1978		HRR003	Herrmann Opitz Craniosynostosis	13
1979		IDP017	Idiopathic Dilatation of the Pulmonary Artery	13
1980	c	SPS035	Spastic Paraplegia 29	13
1981		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	13
1982		MTS004	Metastatic Insulinoma	13
1983		EXT060	Extragonadal Teratoma	13
1984		SPN435	Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia	13
1985		5Q3001	5q35 Microduplication Syndrome	13
1986	c	DYS194	Dysautonomia-Like Disorder	13
1987		CMP062	Complication After Organ Transplantation	13
1988	c	MXD037	Mixed Cryoglobulinemia Type Iii	13
1989		APR008	Aprosencephaly and Cerebellar Dysgenesis	13
1990		IDP038	Idiopathic Acute Transverse Myelitis	13
1991		ISL036	Isolated Pulmonary Capillaritis	13
1992		PRT184	Partial Deletion of the Long Arm of Chromosome 11	13
1993		PRT206	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9	13
1994		EXS015	Exostoses with Anetodermia and Brachydactyly, Type E	13
1995		INV015	Invasive Non-Typhoidal Salmonellosis	13
1996		GZR001	Guizar Vasquez Sanchez Manzano Syndrome	13
1997		ATL006	Atlanto-Axial Fusion	13
1998		BLD072	Bleeding Disorder, East Texas Type	13
1999	c	ANR022	Aneurysm, Intracranial Berry, 4	13
2000	c	ANR029	Aneurysm, Intracranial Berry, 6	13
2001	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	13
2002		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	13
2003		HMN034	Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe	13
2004		BNG042	Benign Multicystic Peritoneal Mesothelioma	13
2005	P	ANT062	Anterior Urethral Valve	13
2006		SKD001	Sakoda Complex	13
2007		CHR223	Chromosome 1q Deletion	13
2008	c	KLL005	Kallmann Syndrome 3	13
2009		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	13
2010	P	HRD194	Hereditary Geniospasm	13
2011		RKT003	Rokitansky-Aschoff Sinuses of the Gallbladder	13
2012		LRY034	Laryngotracheal Angioma	13
2013		MLT168	Multicore Disease	13
2014		MDR001	Medeira-Dennis-Donnai Syndrome	13
2015	c	CLD018	Cleidocranial Dysplasia, Recessive Form	13
2016		CHR189	Chromosome 12p Deletion	13
2017		PHC005	Phacomatosis Pigmentokeratotica	13
2018		11P002	11p15.4 Microduplication Syndrome	13
2019		PRT178	Partial Deletion of the Long Arm of Chromosome 5	13
2020	c	SBC037	Subacute Inflammatory Demyelinating Polyneuropathy	13
2021		RWL001	Rowley-Rosenberg Syndrome	13
2022		ASP009	Aspergillus Niger Infection	13
2023	c	SPS034	Spastic Paraplegia 26	13
2024		VRB002	Variably Protease-Sensitive Prionopathy	13
2025		ATT023	Attenuated Chediak-Higashi Syndrome	13
2026	c	ANR024	Aneurysm, Intracranial Berry, 9	13
2027	c	MTR057	Maternal Uniparental Disomy of Chromosome X	13
2028		MYL078	Myelodysplastic Syndrome with Single Lineage Dysplasia	13
2029		MTT008	Mt-Atp6-Related Mitochondrial Spastic Paraplegia	13
2030		TRT022	True Thymic Hyperplasia	13
2031	c	HPT084	Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection	13
2032		PLG007	Pili Gemini	13
2033		LTN022	Late-Onset Distal Myopathy, Markesbery-Griggs Type	13
2034		CHN047	Chondroectodermal Dysplasia with Night Blindness	13
2035		RCN002	Ricin Poisoning	13
2036		GRN042	Granulomatous Lobular Mastitis	13
2037	c	VCN001	Vcan-Related Vitreoretinopathy	13
2038		MCR299	Microlissencephaly-Micromelia Syndrome	13
2039		EXS022	Exostosis, Dupuytren Subungual	12
2040	c	UNP003	Uniparental Disomy of Chromosome 11	12
2041		CHR197	Chromosome 15, Trisomy Mosaicism	12
2042		BLL014	Bullous Diffuse Cutaneous Mastocytosis	12
2043	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	12
2044		RBL002	Rubella Panencephalitis	12
2045	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	12
2046		LMY006	Leiomyoma of Vulva and Esophagus	12
2047		CHR258	Chromosome 6q Duplication	12
2048		HLL011	Hall-Riggs Syndrome	12
2049		ERL023	Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation	12
2050	c	RST015	Restless Legs Syndrome 4	12
2051		PCR003	Pauciarticular Onset Juvenile Idiopathic Arthritis	12
2052		BWH001	Bow Hunter's Stroke	12
2053		INT300	Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	12
2054		THR034	Thoracopelvic Dysostosis	12
2055	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	12
2056	c	SCN066	Secondary Erythromelalgia	12
2057		PRV008	Parvovirus Antenatal Infection	12
2058	P	CNG326	Congenital Primary Megaureter	12
2059		THS001	Thai Symphalangism Syndrome	12
2060		LRG010	L-Arginine:glycine Amidinotransferase Deficiency	12
2061	c	EPL009	Epilepsy Progressive Myoclonic Type 3	12
2062		NND005	Non-Distal Trisomy 13q	12
2063		PRR018	Preauricular Sinus	12
2064		MRV001	Morvan's Fibrillary Chorea	12
2065		XQ1001	Xq12-Q13.3 Duplication Syndrome	12
2066		IDP023	Idiopathic Subglottic Tracheal Stenosis	12
2067		MRF015	Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	12
2068		IRF001	Irf6-Related Disorders	12
2069		ECT024	Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features	12
2070		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	12
2071		CLR130	Ciliary Dyskinesia with Defective Radial Spokes	12
2072	c	TRS033	Trisomy 18-Like Syndrome	12
2073		CHR556	Chromosome 3q Duplication	12
2074	c	SPS033	Spastic Paraplegia 25	12
2075	c	SPS161	Spastic Paraplegia 32	12
2076	c	ANR026	Aneurysm, Intracranial Berry, 5	12
2077	c	ANR023	Aneurysm, Intracranial Berry, 7	12
2078	c	ANR030	Aneurysm, Intracranial Berry, 8	12
2079	c	CRN068	Corneal Endothelial Dystrophy Type 2	12
2080		LBR027	Laubry-Pezzi Syndrome	12
2081		SPR080	Spirillary Rat-Bite Fever	12
2082		CD4004	Cd4 Deficiency	12
2083		FBR026	Fibromatosis Multiple Non Ossifying	12
2084		ACR089	Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia	12
2085		INT305	Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	12
2086		GLM017	Glomus Tympanicum Tumor	12
2087		MNN041	Mannose-Binding Lectin Protein Deficiency	12
2088		ANR041	Aniridia-Intellectual Disability Syndrome	12
2089		MSN011	Mesangioproliferative Glomerulopathy	12
2090		LPM011	Lip, Median Nodule of Upper	12
2091		INF059	Infundibulopelvic Dysgenesis	12
2092		SPR028	Spirochetes Disease	12
2093		TRN045	True Unicornuate Uterus	12
2094		HRD141	Hereditary Proximal Myopathy with Early Respiratory Failure	12
2095		PLM053	Pulmonary Artery Agenesis	12
2096		PTT038	Pituitary Deficiency Due to Empty Sella Turcica Syndrome	12
2097		CYS035	Cystic Adventitial Disease	12
2098	c	PPL045	Papular Mucinosis of Infancy	12
2099	P	TRS005	Torsion Dystonia with Onset in Infancy	12
2100	c	SPS024	Spastic Paraplegia 14	12
2101		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	12
2102		NSL021	Nasal Encephalocele	12
2103	c	PRG144	Progressive Myoclonus Epilepsy 1b	12
2104		CHR233	Chromosome 21q Deletion	12
2105	c	CNG618	Congenital Nystagmus 1	12
2106		CHR195	Chromosome 14q Deletion	12
2107		ISL131	Isolated Foveal Hypoplasia	12
2108		CMP031	Complement Component Deficiency	12
2109	c	RST021	Restless Legs Syndrome 5	12
2110		CHR206	Chromosome 16q Deletion	12
2111		GLS016	Glossopalatine Ankylosis	12
2112		NNP018	Non-Paraneoplastic Limbic Encephalitis	12
2113	c	KLZ002	Kala-Azar 2	12
2114	c	ANR025	Aneurysm, Intracranial Berry, 10	12
2115	c	HRD211	Hereditary Dentin Defect	12
2116		CRP029	Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	12
2117	c	CNG343	Congenital Coronary Artery Aneurysm	12
2118		LCT018	Lactobezoar	12
2119		RHZ006	Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa	12
2120		ART129	Arterial Dissection with Lentiginosis	12
2121		CHR458	Chromosome 9 Inversion	12
2122		RTN201	Retinoschisis, Autosomal Dominant	12
2123	c	ATS423	Autosomal Dominant Wolfram Syndrome	12
2124	c	INF119	Infantile Mercury Poisoning	12
2125		PRL020	Paralysis Agitans, Juvenile, of Hunt	12
2126		FGS003	Fg Syndrome 3	12
2127