Rare Diseases Category (12897 diseases)

Including: rare
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		INC002	Inclusion Body Myositis	66
2		SCH036	Scheie Syndrome	69
3		SCH068	Schwartz-Jampel Syndrome, Type 1	55
4		IGG007	Igg4-Related Disease	47
5		HMF006	Hemifacial Microsomia	58
6		ABT001	Abetalipoproteinemia	67
7	P	PRG013	Paraganglioma	58
8	c	PRG018	Paragangliomas 1	55
9		JBR006	Joubert Syndrome with Oculorenal Anomalies	42
10	c	NNS018	Nonsyndromic Paraganglioma	28
11	P	GLL022	Guillain-Barre Syndrome	63
12		CRD002	Cri-Du-Chat Syndrome	50
13	c	GLL037	Guillain-Barre Syndrome, Familial	33
14		CHR629	Charcot-Marie-Tooth Disease and Deafness	47
15		CNN003	Conn's Syndrome	73
16		CMP012	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	43
17		NRM019	Neuraminidase Deficiency	60
18		FNC009	Fanconi-Bickel Syndrome	55
19		OPS006	Opsoclonus-Myoclonus Syndrome	51
20	P	MRR011	Mirror Movements 1	42
21	c	MRR010	Mirror Movements 2	15
22	c	MRR012	Mirror Movements 3	14
23	P	EPS003	Episodic Ataxia	57
24	P	EHL052	Ehlers-Danlos Syndrome, Vascular Type	56
25	c	EPS042	Episodic Ataxia, Type 1	52
26	c	ATM092	Autoimmune Polyendocrine Syndrome, Type Ii	47
27	c	EHL037	Ehlers-Danlos Syndrome, Vascular-Like Type	9
28		CRT072	Creutzfeldt-Jakob Disease	66
29		RBR001	Roberts Syndrome	60
30		WLF002	Wolf-Hirschhorn Syndrome	53
31		CHR635	Chromosome 5q Deletion Syndrome	51
32	c	ATM002	Autoimmune Polyendocrine Syndrome Type 1	46
33	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	41
34		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	35
35		BRK012	Broken Heart Syndrome	34
36		ERL046	Early-Onset Generalized Dystonia	34
37	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	29
38	c	CWD006	Cowden Syndrome 1	71
39	P	INT143	Interstitial Cystitis	66
40	P	DYS193	Dystonia 11, Myoclonic	54
41		CRN295	Carnitine Palmitoyltransferase I Deficiency	53
42	c	CHR020	Chronic Interstitial Cystitis	35
43	c	CWD008	Cowden Syndrome 6	25
44	c	CWD004	Cowden Syndrome 5	24
45	c	CWD009	Cowden Syndrome 7	21
46	c	CWD005	Cowden Syndrome 4	20
47	c	DYS175	Dystonia 26, Myoclonic	18
48	c	DYS058	Dystonia 15, Myoclonic	17
49	P	OPT048	Opitz-Gbbb Syndrome	50
50	c	OPT051	Opitz Gbbb Syndrome, Type I	47
51	P	CHN059	Chondrocalcinosis	47
52	c	PGT008	Paget Disease of Bone 5, Juvenile-Onset	46
53	c	OPT050	Opitz Gbbb Syndrome, Type Ii	45
54	P	LYD011	Leydig Cell Hypoplasia	37
55	c	PGT007	Paget Disease of Bone 3	36
56	c	CHN022	Chondrocalcinosis 2	33
57	c	LYD012	Leydig Cell Hypoplasia, Type I	32
58		FBR064	Febrile Infection-Related Epilepsy Syndrome	30
59	c	PGT009	Paget Disease of Bone 2, Early-Onset	26
60	c	PGT011	Paget Disease of Bone 6	21
61	c	PGT006	Paget Disease of Bone 4	18
62		PCD002	Pcdh19-Related Female-Limited Epilepsy	17
63	c	ATS311	Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related	14
64	P	ALP009	Alopecia Areata	64
65		LPT001	Leptospirosis	62
66		DGR001	Digeorge Syndrome	62
67	P	CTC001	Catecholaminergic Polymorphic Ventricular Tachycardia	60
68		MLT163	Multiple Pterygium Syndrome, Escobar Variant	53
69		SCR020	Sacral Defect with Anterior Meningocele	46
70		MLG120	Malignant Migrating Partial Seizures of Infancy	36
71	c	VNT029	Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	30
72	c	VNT010	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	30
73		MCL079	Macular Telangiectasia Type 2	29
74		PRX096	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum	24
75	c	VNT027	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	22
76	c	ALP039	Alopecia Areata 1	22
77	c	ALP040	Alopecia Areata 2	21
78	c	CTC003	Catecholaminergic Polymorphic Ventricular Tachycardia 5	7
79	P	PLM037	Pulmonary Hypertension	77
80	c	PLM164	Pulmonary Hypertension, Primary, 1	74
81		WVR001	Weaver Syndrome	54
82	P	ERY053	Erythrokeratodermia Variabilis Et Progressiva 1	53
83	c	ERY062	Erythrokeratodermia Variabilis Et Progressiva 5	30
84	c	ERY054	Erythrokeratodermia Variabilis Et Progressiva 2	21
85	c	ERY055	Erythrokeratodermia Variabilis Et Progressiva 3	19
86	c	ERY056	Erythrokeratodermia Variabilis Et Progressiva 4	19
87		KRN002	Kearns-Sayre Syndrome	61
88		JCB001	Jacobsen Syndrome	54
89		DYS192	Dystonia, Dopa-Responsive	53
90	P	THR117	Three M Syndrome 1	52
91		JJN004	Jejunal Atresia	37
92		TRP006	Tarp Syndrome	34
93	c	CNG418	Congenital Intrauterine Infection-Like Syndrome	27
94		ATY012	Atypical Mycobacteriosis, Familial	24
95		SSR001	Ssr4-Cdg	22
96	c	THR096	Three M Syndrome 3	21
97	c	THR069	Three M Syndrome 2	19
98		XLN216	X-Linked Dystonia-Parkinsonism/lubag	18
99		HYP171	Hyperphenylalaninemia Due to Dehydratase Deficiency	18
100		CHR555	Chromosome 3p- Syndrome	14
101		CRN057	Carnitine Palmitoyltransferase I Deficiency , Muscle	13
102	P	ADL010	Adult Respiratory Distress Syndrome	62
103	c	ACT210	Acute Respiratory Distress Syndrome	62
104		WLK001	Walker-Warburg Syndrome	60
105	P	INT099	Intrahepatic Cholestasis of Pregnancy	60
106		LNG073	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	59
107	P	HYP097	Hyperekplexia	58
108		LKN001	Leukoencephalopathy with Vanishing White Matter	57
109		LKN025	Leukoencephalopathy, Hereditary Diffuse, with Spheroids	55
110	P	CRN038	Carney Complex Variant	55
111	c	CHL116	Cholestasis, Intrahepatic, of Pregnancy, 1	48
112		BLP046	Blepharophimosis, Ptosis, and Epicanthus Inversus	46
113		ART116	Arthropathy, Progressive Pseudorheumatoid, of Childhood	45
114	c	CRN243	Carney Complex, Type 1	43
115		47X002	47,xyy	40
116		GNT020	Giant Congenital Nevus	37
117		SCR037	Sucrase-Isomaltase Deficiency, Congenital	36
118		BST007	Best Vitelliform Macular Dystrophy	36
119	c	PRK085	Parkinson Disease 1, Autosomal Dominant	35
120	c	HYP699	Hyperekplexia 1	32
121	c	CHL142	Cholestasis, Intrahepatic, of Pregnancy 3	26
122	c	PRK081	Parkinson Disease 19a, Juvenile-Onset	24
123	c	HYP510	Hyperekplexia 2	21
124		BLP010	Blepharophimosis Intellectual Disability Syndromes	20
125	c	HYP825	Hyperekplexia 4	20
126	c	ATS310	Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related	18
127	c	CRN298	Carney Complex, Type 2	17
128	c	ATS312	Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	16
129		LGH007	Leigh Syndrome	69
130		GLC006	Galactosemia	66
131		MSM014	Mismatch Repair Cancer Syndrome	63
132		DRR016	Diarrhea 2, with Microvillus Atrophy	55
133		CNV004	Canavan Disease	55
134	P	TWN003	Townes-Brocks Syndrome	55
135		CHR594	Chromosome 3q29 Deletion Syndrome	47
136		ANM046	Anemia, Sideroblastic, and Spinocerebellar Ataxia	43
137		GRN013	Greenberg Dysplasia	36
138	c	TWN011	Townes-Brocks Syndrome 1	28
139		GGN004	Gigantomastia	24
140		PRP083	Porphyria, Acute Intermittent	64
141		PRP001	Propionic Acidemia	63
142		MCR013	Microphthalmia	62
143		MBS002	Moebius Syndrome	57
144	c	CHL134	Cholestasis, Benign Recurrent Intrahepatic, 1	56
145	P	PRG047	Progressive Familial Intrahepatic Cholestasis	56
146		PPL049	Papillon-Lefevre Syndrome	55
147	P	MGL001	Megaloblastic Anemia	54
148		PGM001	Pigmented Villonodular Synovitis	54
149		ESN020	Eosinophilic Granulomatosis with Polyangiitis	54
150	P	SJG002	Sjogren-Larsson Syndrome	53
151		BLL003	Bell's Palsy	52
152		RCR004	Recurrent Respiratory Papillomatosis	50
153	c	MGL018	Megaloblastic Anemia 1	47
154	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	46
155		CRN106	Corneal Dystrophy, Gelatinous Drop-Like	39
156	c	CHL091	Cholestasis, Progressive Familial Intrahepatic, 5	38
157		NCR001	Necrotizing Ulcerative Gingivitis	36
158		PLL005	Pallister-Killian Mosaic Syndrome	25
159		TMF001	Tumefactive Multiple Sclerosis	22
160		XLN215	X-Linked Congenital Generalized Hypertrichosis	21
161	c	XLN227	X-Linked Chondrodysplasia Punctata 1	19
162		CRD019	Cardiocranial Syndrome	12
163		OPH015	Ophn1 Syndrome	12
164	P	MTC003	Metachromatic Leukodystrophy	70
165	P	AMY004	Amyloidosis	68
166		PRT036	Peritonitis	66
167		MLT118	Multiple Acyl-Coa Dehydrogenase Deficiency	63
168	P	HYP724	Hyperlipoproteinemia, Type Iii	62
169		CNT105	Central Core Disease of Muscle	62
170	c	ALM001	Al Amyloidosis	60
171		HLT001	Holt-Oram Syndrome	60
172	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
173		FLR001	Filarial Elephantiasis	55
174		WLM014	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome	53
175		GRS011	Gerstmann-Straussler Disease	51
176	c	HYP740	Hyperlipoproteinemia, Type V	49
177	P	NML001	Nemaline Myopathy	48
178		PST048	Postural Orthostatic Tachycardia Syndrome	46
179	c	NML003	Nemaline Myopathy 2	45
180		GLC011	Galactose Epimerase Deficiency	45
181	c	NML002	Nemaline Myopathy 1	44
182	c	HYP768	Hyperlipoproteinemia, Type I	44
183	c	NML005	Nemaline Myopathy 4	42
184	c	NML004	Nemaline Myopathy 3	42
185		CHR174	Christianson Syndrome	40
186		3BT001	3-Beta-Hydroxysteroid Dehydrogenase Deficiency	34
187		GLC024	Glucose Transporter Type 1 Deficiency Syndrome	34
188	c	SCP012	Scapuloperoneal Myopathy, Myh7-Related	33
189		MHR002	Mohr Syndrome	32
190		VRT007	Vertical Talus, Congenital	31
191	c	PRV019	Periventricular Nodular Heterotopia 1	31
192	c	MTC074	Metachromatic Leukodystrophy, Adult Form	29
193		ISD002	Isodicentric Chromosome 15 Syndrome	29
194	c	MYP081	Myopathy, Myofibrillar, 6	28
195	c	MTC076	Metachromatic Leukodystrophy, Juvenile Form	28
196	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	28
197	P	SCP010	Scapuloperoneal Myopathy	28
198		STB002	Satb2-Associated Syndrome	27
199		CHR524	Chromosome 16p13.3 Duplication Syndrome	26
200		MLL009	Mullerian Aplasia	26
201		CNG114	Congenital Myasthenic Syndrome with Episodic Apnea	26
202	c	NML022	Nemaline Myopathy 10	25
203	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	23
204	c	NML025	Nemaline Myopathy 8	23
205	c	NML007	Nemaline Myopathy 6	23
206	c	PRV018	Periventricular Nodular Heterotopia 7	22
207	c	NML010	Nemaline Myopathy 7	22
208	c	NML021	Nemaline Myopathy 9	21
209	c	PRV016	Periventricular Nodular Heterotopia 6	21
210	c	HYP819	Hyperlipoproteinemia, Type Id	20
211	c	FLN007	Flna-Related Periventricular Nodular Heterotopia	20
212	c	PRM150	Primary Localized Amyloidosis	20
213		2MT001	2-Methyl-3-Hydroxybutyric Aciduria	20
214		HRD141	Hereditary Proximal Myopathy with Early Respiratory Failure	19
215	c	AHM002	Ah Amyloidosis	18
216	P	MCH002	Machado-Joseph Disease	64
217	P	EPN002	Ependymoma	56
218	c	BNG030	Benign Ependymoma	50
219		BZX001	Bazex Syndrome	46
220		BLC001	Blue Cone Monochromacy	45
221		PST049	Postaxial Acrofacial Dysostosis	44
222	P	DNT009	Dentin Dysplasia	41
223	c	MLG064	Malignant Ependymoma	40
224	c	DNT027	Dentin Dysplasia, Type Ii	38
225		CRY032	Carey-Fineman-Ziter Syndrome	38
226	c	MLG023	Malignant Adult Ependymoma	20
227	c	MCH014	Machado-Joseph Disease Type 2	9
228	c	MCH013	Machado-Joseph Disease Type 3	9
229	c	MCH012	Machado-Joseph Disease Type 1	9
230		TKY002	Takayasu Arteritis	67
231		MCC012	Mccune-Albright Syndrome	66
232	P	CRB048	Cerebral Cavernous Malformations	63
233	P	CRD132	Cardiac Conduction Defect	62
234		BLS001	Blau Syndrome	60
235		FCT002	Factor Xi Deficiency	58
236		DNT005	Dentatorubral-Pallidoluysian Atrophy	52
237	c	CRB191	Cerebral Cavernous Malformations 2	51
238		HRP009	Herpes Simplex Encephalitis	50
239		TTZ003	Tietz Albinism-Deafness Syndrome	50
240		LCH011	Lichen Planopilaris	50
241	P	OTS002	Otospondylomegaepiphyseal Dysplasia	46
242	c	PNC128	Pain - Chronic	46
243	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	45
244	P	BRC015	Bruck Syndrome	45
245		RSS026	Roussy-Levy Hereditary Areflexic Dystasia	45
246		KDS001	Kid Syndrome	44
247		ATX029	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	43
248	c	HYP794	Hyperoxaluria, Primary, Type I	42
249	c	CRB094	Cerebral Cavernous Malformations 3	41
250	c	HYP368	Hyperphenylalaninemia, Bh4-Deficient, C	36
251		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	32
252		CNG064	Congenital Chloride Diarrhea	32
253	c	FML250	Familial Progressive Cardiac Conduction Defect	31
254		FRS007	Frias Syndrome	29
255	c	CNT068	Central Pain Syndrome	29
256		PLM049	Plummer Vinson Syndrome	29
257		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	28
258	c	BRC047	Bruck Syndrome 1	27
259		PHS010	Phosphoglycerate Mutase Deficiency	26
260	c	ALB017	Albinism, Oculocutaneous, Type Vi	26
261		GNT018	Gianotti Crosti Syndrome	26
262		NCR015	Necrotizing Autoimmune Myopathy	24
263		NVD003	Nevoid Hypermelanosis, Linear and Whorled	24
264		PLM069	Pulmonary Venous Return Anomaly	23
265	c	HYP365	Hyperphenylalaninemia, Bh4-Deficient, D	22
266		MYC001	Myoclonic Cerebellar Dyssynergia	22
267	c	CRB051	Cerebral Cavernous Malformation, Familial	20
268		DND017	Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures	20
269		ATS309	Autosomal Dominant Leukodystrophy with Autonomic Disease	18
270		ERL033	Early-Onset Parkinsonism-Intellectual Disability Syndrome	18
271		SCT004	Scott Bryant Graham Syndrome	17
272		MCR265	Macrozoospermia	15
273		CHR554	Chromosome 17q11.2 Deletion Syndrome	13
274		CDC005	Cad-Cdg	7
275		CRH001	Crohn's Disease	77
276	c	MLT160	Multiple Endocrine Neoplasia, Type Iia	66
277		STF001	Stiff-Person Syndrome	65
278		MST024	Mastocytosis, Cutaneous	64
279	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	60
280		ACR008	Acrocallosal Syndrome	58
281	P	MLT074	Multiple Endocrine Neoplasia	57
282		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	56
283	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	52
284	P	NLD001	Nail Disease	51
285	P	FML035	Familial Hyperlipidemia	51
286		ADN001	Adenosine Deaminase Deficiency	48
287		TLR001	Tularemia	48
288	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	46
289	P	BLP047	Blepharocheilodontic Syndrome 1	45
290	P	AMY084	Amyloidosis, Finnish Type	45
291	c	ANT077	Anterior Segment Dysgenesis 1	44
292	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	40
293	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	40
294	c	MLG147	Malignant Hyperthermia 1	40
295		KKC001	Kikuchi Disease	38
296		MCL069	Macular Dystrophy, Retinal, 1, North Carolina Type	37
297		CRY001	Cryptogenic Organizing Pneumonia	36
298	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	36
299		CHL109	Childhood Apraxia of Speech	36
300		ATX019	Ataxia with Vitamin E Deficiency	34
301		CRN141	Corneal Dystrophy, Reis-Bucklers Type	34
302	c	EHL081	Ehlers-Danlos Syndrome, Classic-Like	33
303	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	33
304	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	33
305	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	31
306		MDM001	Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency	30
307	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	30
308	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	29
309	c	ANT084	Anterior Segment Dysgenesis 3	28
310		MNT006	Manitoba Oculotrichoanal Syndrome	27
311	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	27
312		PNT003	Pinta Disease	27
313	c	ANT085	Anterior Segment Dysgenesis 5	25
314	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	25
315	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	25
316	c	ANT083	Anterior Segment Dysgenesis 7	25
317	c	MYS062	Myasthenic Syndrome, Congenital, 2a, Slow-Channel	25
318	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	24
319	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
320		ART037	Arthrogryposis and Ectodermal Dysplasia	24
321		7Q1002	7q11.23 Duplication Syndrome	23
322	c	FML249	Familial Amyloidosis, Finnish Type	22
323		IMM096	Immunodeficiency 30	22
324	c	HYP163	Hyperlipidemia Type 3	22
325	c	BLP049	Blepharocheilodontic Syndrome 2	20
326	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	19
327	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	19
328	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	19
329	c	ANT067	Anterior Segment Dysgenesis 8	18
330	c	ANT087	Anterior Segment Dysgenesis 6	18
331	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	18
332		HYP696	Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome	17
333		FBX003	Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome	13
334		MTH067	Methylmalonic Acidemia with Homocystinuria Type Cblj	9
335	P	HYP756	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	57
336		ARS001	Aarskog-Scott Syndrome	56
337	P	CMR001	Camurati-Engelmann Disease	56
338	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	53
339		DYS022	Dyschromatosis Symmetrica Hereditaria	51
340	P	PLM006	Pulmonary Alveolar Proteinosis	50
341	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	50
342	c	PLM150	Pulmonary Alveolar Proteinosis, Acquired	41
343		GRD009	Gordon Holmes Syndrome	39
344		ISC016	Ischiocoxopodopatellar Syndrome	36
345		CHN057	Chondrodysplasia, Grebe Type	36
346		PLY161	Polymicrogyria, Bilateral Perisylvian, X-Linked	36
347	c	HYP373	Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive	36
348		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	34
349		SLT005	Solitary Median Maxillary Central Incisor	32
350		INS024	Insulin-Like Growth Factor I	76
351	P	AGM019	Agammaglobulinemia, X-Linked	73
352		SND001	Sandhoff Disease	66
353	P	KLL001	Kallmann Syndrome	64
354		BLM001	Bloom Syndrome	64
355		WLF001	Wolff-Parkinson-White Syndrome	63
356		CHK001	Chikungunya	61
357		RHB001	Rhabdoid Cancer	60
358		ALK013	Alkaptonuria	58
359	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	57
360	c	USH036	Usher Syndrome, Type I	57
361		HYP691	Hypomelanosis of Ito	57
362		WST001	West Syndrome	57
363		BRT002	Birt-Hogg-Dube Syndrome	56
364	c	MYT020	Myotonic Dystrophy 2	55
365	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
366		LKC005	Leukocyte Adhesion Deficiency, Type Iii	54
367		MGL038	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	53
368		HPT025	Hepatic Lipase Deficiency	52
369	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	52
370	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	51
371	P	PRM001	Primary Cutaneous Amyloidosis	51
372	P	TRC086	Trichohepatoenteric Syndrome 1	51
373	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	51
374		MLT113	Multicentric Castleman Disease	50
375		FSH001	Fish-Eye Disease	50
376	P	SMP003	Simpson-Golabi-Behmel Syndrome	50
377		BRD025	Birdshot Chorioretinopathy	50
378		ICH054	Ichthyosis, X-Linked	50
379	P	PRX021	Proximal Symphalangism	49
380		KRT010	Kartagener Syndrome	48
381	P	NNT009	Neonatal Diabetes Mellitus	47
382		UNV001	Unverricht-Lundborg Syndrome	47
383	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	47
384	c	USH039	Usher Syndrome, Type Ic	46
385	P	MLT072	Multiple Synostoses Syndrome	46
386		GLC004	Galactokinase Deficiency	45
387	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	45
388		HTR003	Heterotaxy	44
389	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	43
390		PST020	Postpoliomyelitis Syndrome	43
391	c	USH040	Usher Syndrome, Type Id	42
392	c	USH020	Usher Syndrome, Type Iic	41
393	P	KLN006	Koolen-De Vries Syndrome	41
394	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	41
395		STV003	Stuve-Wiedemann Syndrome	40
396		CRN247	Corneal Dystrophy, Thiel-Behnke Type	40
397		PRM057	Paramyotonia Congenita of Von Eulenburg	40
398	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	40
399	c	ANT071	Anterior Segment Dysgenesis 4	39
400	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	38
401	c	AMY060	Amyloidosis, Primary Localized Cutaneous, 1	37
402	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	36
403	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	34
404		CNZ005	Coenzyme Q10 Deficiency, Primary, 4	34
405		OCL034	Oculocerebrocutaneous Syndrome	33
406	P	PRD037	Periodontal Ehlers-Danlos Syndrome	31
407	c	AMY111	Amyloidosis, Primary Localized Cutaneous, 3	31
408		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	31
409		RCH002	Richards-Rundle Syndrome	30
410	c	CNG133	Congenital Varicella Syndrome	29
411	c	MLT059	Multiple Synostoses Syndrome 1	28
412	c	SYM022	Symphalangism, Proximal, 1a	28
413	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	27
414	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
415		HYP180	Hypertrichosis Lanuginosa Congenita	26
416		GRD004	Gardner-Diamond Syndrome	26
417		3HY010	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	26
418	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
419	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	24
420	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	24
421	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	23
422		SHP004	Shprintzen Omphalocele Syndrome	22
423		XLN162	X-Linked Intellectual Disability, Najm Type	22
424	c	TRC078	Trichohepatoenteric Syndrome 2	22
425		LMB014	Limb-Body Wall Complex	22
426	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	21
427		CHR416	Chromosome 17q Deletion	19
428		ACT160	Actinic Lichen Planus	19
429	c	MLT166	Multiple Synostoses Syndrome 4	17
430	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	17
431	c	SYM019	Symphalangism, Proximal, 1b	17
432	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	16
433	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	16
434		17Q011	17q12 Duplication	15
435	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	15
436		FRL002	Froelich Syndrome	14
437		PGM026	Pgm3-Cdg	10
438	P	VRC007	Varicella, Severe Recurrent	10
439	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	6
440	c	MYT021	Myotonic Dystrophy 1	70
441	P	HYD006	Hydrocephalus	66
442		HSH003	Hashimoto Thyroiditis	65
443	P	LBR001	Leber Congenital Amaurosis	65
444		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	64
445	P	CNR004	Cone-Rod Dystrophy 2	63
446	c	LBR014	Leber Congenital Amaurosis 4	63
447		PTT048	Pituitary Adenoma, Prolactin-Secreting	62
448		CLS005	Clouston Syndrome	62
449	P	MLG056	Malignant Hyperthermia	62
450	c	HRD002	Hereditary Angioedema	62
451	P	FCL005	Focal Segmental Glomerulosclerosis	60
452	P	PLY006	Polydactyly	59
453		ERY003	Erythema Multiforme	58
454	c	ALB021	Albinism, Oculocutaneous, Type Ii	57
455		FTL009	Fetal Akinesia Deformation Sequence	56
456	c	FCL025	Focal Segmental Glomerulosclerosis 1	55
457		CTR172	Citrullinemia, Classic	55
458		NLP001	Nail-Patella Syndrome	55
459	c	LYS021	Loeys-Dietz Syndrome 3	54
460		PRN011	Pernicious Anemia	53
461	c	ALB009	Albinism, Oculocutaneous, Type Ia	53
462	P	ACQ022	Acquired Generalized Lipodystrophy	53
463	c	FBR084	Fibromatosis, Gingival, 1	53
464		CRN239	Carnitine Deficiency, Systemic Primary	52
465	P	GNG025	Gingival Fibromatosis	52
466		BTY001	Butyrylcholinesterase Deficiency	52
467	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	51
468		OST022	Osteopathia Striata with Cranial Sclerosis	49
469	c	CHR037	Chronic Eosinophilic Pneumonia	49
470	c	CNG012	Congenital Generalized Lipodystrophy	48
471	c	ANG068	Angioedema, Hereditary, Type I	48
472		MTH078	Methylmalonic Aciduria, Cblb Type	47
473	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	47
474	c	LBR012	Leber Congenital Amaurosis 2	46
475	c	HYD064	Hydrocephalus, Congenital, 1	46
476		BLS007	Blastic Plasmacytoid Dendritic Cell	46
477	c	LBR004	Leber Congenital Amaurosis 1	46
478		3MT001	3-Methylcrotonyl-Coa Carboxylase Deficiency	43
479	c	LBR019	Leber Congenital Amaurosis 9	40
480		TRP009	Triple X Syndrome	40
481		DFF021	Diffuse Mesangial Sclerosis	40
482		CRN237	Corneal Dystrophy, Avellino Type	40
483	P	BLN001	Blount's Disease	39
484		DNS007	Dense Deposit Disease	39
485		GNC003	Geniculate Herpes Zoster	38
486	c	MCL060	Macular Dystrophy, Vitelliform, 3	38
487	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	38
488	c	CNR016	Cone-Rod Dystrophy 7	38
489	P	VTL001	Vitelliform Macular Dystrophy	38
490	c	MCL066	Macular Dystrophy, Vitelliform, 2	37
491	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	37
492	c	BRT038	Baraitser-Winter Syndrome 1	37
493		PHC004	Phace Syndrome	36
494	c	CNR017	Cone-Rod Dystrophy 9	36
495	c	LBR007	Leber Congenital Amaurosis 12	35
496	P	BRT040	Baraitser-Winter Syndrome	35
497	P	PRS013	Prosopagnosia	35
498		SPS016	Spasmodic Dysphonia	35
499		RSP007	Respiratory Distress Syndrome, Infant	35
500	c	LBR011	Leber Congenital Amaurosis 16	34
501		ATM061	Autoimmune Polyglandular Syndrome Type 3	33
502		MTH026	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	33
503	c	CNR013	Cone-Rod Dystrophy 12	32
504		GMZ002	Gomez-Lopez-Hernandez Syndrome	32
505	c	LBR005	Leber Congenital Amaurosis 10	31
506	c	LBR018	Leber Congenital Amaurosis 8	31
507		DSS025	Dissociative Seizures	31
508	c	LBR013	Leber Congenital Amaurosis 3	30
509	c	LBR016	Leber Congenital Amaurosis 6	30
510	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	30
511	c	CNR014	Cone-Rod Dystrophy 16	30
512		MTH077	Methylmalonic Aciduria, Cbla Type	29
513	c	BRT039	Baraitser-Winter Syndrome 2	28
514		CHR209	Chromosome 17p Duplication	28
515	c	LBR015	Leber Congenital Amaurosis 5	28
516		WGN003	Wagner Syndrome	28
517	c	LBR009	Leber Congenital Amaurosis 14	27
518		ADN077	Adenosine Deaminase 2 Deficiency	27
519		CHR523	Chromosome 15q11.2 Deletion Syndrome	26
520		WYB001	Wyburn Mason's Syndrome	26
521		DTH005	Diethylstilbestrol Syndrome	26
522	c	ICH014	Ichthyosis Lamellar 1	25
523	c	LBR008	Leber Congenital Amaurosis 13	25
524		ACT201	Acute Posterior Multifocal Placoid Pigment Epitheliopathy	24
525	c	CNR032	Cone-Rod Dystrophy 21	24
526	c	FCL043	Focal Segmental Glomerulosclerosis 6	23
527		GLT014	Glutathionuria	23
528	c	LBR010	Leber Congenital Amaurosis 15	23
529		CDK006	Cdkl5 Deficiency Disorder	23
530	c	PRS058	Prosopagnosia, Hereditary	22
531	c	CNR021	Cone-Rod Dystrophy 10	22
532	c	CNR026	Cone-Rod Dystrophy 18	22
533	c	LBR029	Leber Congenital Amaurosis 17	22
534	c	CNR025	Cone-Rod Dystrophy 15	22
535	c	CNR012	Cone-Rod Dystrophy 11	22
536	c	CNR024	Cone-Rod Dystrophy 13	22
537	c	FCL082	Focal Segmental Glomerulosclerosis 4	22
538	c	FCL027	Focal Segmental Glomerulosclerosis 3	20
539	c	CNR030	Cone-Rod Dystrophy 20	20
540	c	FCL026	Focal Segmental Glomerulosclerosis 2	20
541	c	HYD042	Hydrocephalus, Autosomal Dominant	20
542	c	FCL085	Focal Segmental Glomerulosclerosis 7	20
543		5Q1001	5q14.3 Microdeletion Syndrome	20
544	c	MCL061	Macular Dystrophy, Vitelliform, 4	19
545	c	LBR017	Leber Congenital Amaurosis 7	19
546	c	MCL056	Macular Dystrophy, Vitelliform, 5	19
547	c	FCL028	Focal Segmental Glomerulosclerosis 5	19
548	c	LBR006	Leber Congenital Amaurosis 11	18
549		OMP007	Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex	18
550	c	CNR029	Cone-Rod Dystrophy 19	18
551		CMP017	Camptocormism	16
552	c	BLN020	Blount Disease, Infantile	16
553	c	CNT108	Central Polydactyly	16
554	c	FBR092	Fibromatosis, Gingival, 5	15
555		SCN063	Scn2a Related Disorders	11
556		NFK002	Nf-Kappa B Essential Modulator Deficiency	7
557		CNT097	Central Hypoventilation Syndrome, Congenital	66
558	P	ACH003	Achromatopsia	59
559		MCK005	Mckusick-Kaufman Syndrome	54
560		DNY001	Denys-Drash Syndrome	54
561		FRY006	Fryns Microphthalmia Syndrome	53
562	c	LSS005	Lissencephaly 1	53
563		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	51
564		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	50
565		VPM001	Vipoma	48
566		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	48
567		KMR001	Kimura Disease	47
568	c	LKD019	Leukodystrophy, Hypomyelinating, 6	46
569	c	LKD010	Leukodystrophy, Hypomyelinating, 2	45
570	c	ACH020	Achromatopsia 2	45
571		GLC022	Glucose/galactose Malabsorption	44
572		LPM010	Lipomatosis, Multiple Symmetric	43
573	P	MRN003	Marinesco-Sjogren Syndrome	41
574		LRN006	Laurin-Sandrow Syndrome	40
575	c	LKD008	Leukodystrophy, Hypomyelinating, 4	39
576		MLG141	Malignant Atrophic Papulosis	38
577		ALV006	Alveolar Capillary Dysplasia	36
578		BJR001	Bjornstad Syndrome	36
579	c	DNT051	Dentin Dysplasia, Type I	33
580	c	ACH023	Achromatopsia 4	32
581		SCL022	Scleredema	31
582		INT088	Intrinsic Factor Deficiency	31
583		MSM016	Mesomelic Dysplasia, Kantaputra Type	30
584	c	LSS010	Lissencephaly 4	29
585		BLN004	Balantidiasis	27
586	c	LKD020	Leukodystrophy, Hypomyelinating, 10	27
587		BLP041	Blepharochalasis and Double Lip	26
588	c	LKD022	Leukodystrophy, Hypomyelinating, 13	26
589		PRF003	Piriformis Syndrome	26
590		SHP003	Shapiro Syndrome	26
591	c	LSS025	Lissencephaly 5	25
592	c	LKD016	Leukodystrophy, Hypomyelinating, 9	25
593	c	LKD030	Leukodystrophy, Hypomyelinating, 17	25
594	c	LKD023	Leukodystrophy, Hypomyelinating, 12	24
595	c	LKD021	Leukodystrophy, Hypomyelinating, 11	24
596	c	LSS009	Lissencephaly 3	23
597	c	LKD028	Leukodystrophy, Hypomyelinating, 15	23
598	c	LSS035	Lissencephaly 8	23
599	c	ACH038	Achromatopsia 7	22
600	c	LKD027	Leukodystrophy, Hypomyelinating, 14	22
601	c	LKD029	Leukodystrophy, Hypomyelinating, 16	22
602		ACR006	Aceruloplasminemia	70
603	P	TMP003	Temporal Arteritis	69
604	P	FRD012	Friedreich Ataxia 1	67
605		BRC012	Brucellosis	66
606		AND019	Andersen Cardiodysrhythmic Periodic Paralysis	65
607		BLL006	Bullous Pemphigoid	65
608		MNK001	Menkes Disease	64
609	c	EPL209	Epilepsy, Idiopathic Generalized 10	64
610	P	HML002	Hemolytic Anemia	63
611		ANG054	Angina Pectoris	62
612	P	EPL140	Epilepsy, Idiopathic Generalized	62
613		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	62
614	c	ANM038	Anemia, Autoimmune Hemolytic	61
615		BRG013	Buerger Disease	61
616		NRL005	Neurilemmoma	61
617	P	USH001	Usher Syndrome	59
618	P	NRC002	Narcolepsy	59
619		DBN001	Dubin-Johnson Syndrome	58
620		LMB002	Lambert-Eaton Myasthenic Syndrome	58
621		ALS001	Alstrom Syndrome	55
622		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	53
623		RTN209	Retinoschisis 1, X-Linked, Juvenile	53
624	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	52
625		SHH001	Sheehan Syndrome	51
626		PRX015	Paroxysmal Extreme Pain Disorder	50
627	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	50
628		ENC055	Encephalopathy, Ethylmalonic	48
629	c	TRC092	Trichorhinophalangeal Syndrome, Type I	48
630		MDL009	Medullary Sponge Kidney	48
631	c	NRC009	Narcolepsy 1	47
632		ALP077	Alpha-Methylacetoacetic Aciduria	47
633	c	CHR350	Charcot-Marie-Tooth Disease, Axonal, Type 2k	47
634		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	46
635		ACR013	Acrodysostosis	46
636		OPT054	Opitz-Kaveggia Syndrome	46
637		3HY007	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	46
638		DNR002	Duane-Radial Ray Syndrome	46
639		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	45
640		HMC041	Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity	45
641	c	OTP007	Otopalatodigital Syndrome, Type Ii	45
642		BRT059	Bartsocas-Papas Syndrome	44
643		IMM011	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	43
644	c	OTP006	Otopalatodigital Syndrome, Type I	40
645		ACT055	Actinomycosis	40
646	c	CHR649	Charcot-Marie-Tooth Disease, Axonal, Type 2d	38
647	c	CHR353	Charcot-Marie-Tooth Disease, Axonal, Type 2l	37
648		LCL022	Localized Lipodystrophy	37
649	c	NRC010	Narcolepsy 2	37
650	c	ATS076	Autosomal Recessive Stickler Syndrome	36
651		GRN022	Granulosa Cell Tumor of the Ovary	36
652		MTH064	Methemoglobinemia, Beta-Globin Type	36
653		WDH001	Wdha Syndrome	35
654		DNC004	Diencephalic Syndrome	35
655		DHY010	Dihydrolipoamide Dehydrogenase Deficiency	35
656	c	CHR352	Charcot-Marie-Tooth Disease, Axonal, Type 2f	35
657	c	STC015	Stickler Syndrome, Type I	34
658		GRC001	Gracile Syndrome	34
659	c	NML006	Nemaline Myopathy 5	34
660	c	CHR351	Charcot-Marie-Tooth Disease, Axonal, Type 2n	34
661		PPC001	Pepck 1 Deficiency	34
662		HMF010	Hemifacial Microsomia with Radial Defects	33
663	c	HYP602	Hyperoxaluria, Primary, Type Ii	33
664		AMY098	Amyotrophy, Monomelic	33
665	c	CHR547	Charcot-Marie-Tooth Disease, Axonal, Type 2u	33
666	P	ATL001	Atelosteogenesis	33
667		PRT055	Prieto X-Linked Mental Retardation Syndrome	33
668	c	CHR542	Charcot-Marie-Tooth Disease, Axonal, Type 2t	32
669	c	CHR626	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	32
670		PNT005	Pentalogy of Cantrell	32
671	P	SNG014	Singleton-Merten Syndrome	31
672	c	CHR657	Charcot-Marie-Tooth Disease, Axonal, Type 2j	30
673	c	CHR660	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a	30
674	c	CHR650	Charcot-Marie-Tooth Disease, Axonal, Type 2b1	30
675	c	CHR545	Charcot-Marie-Tooth Disease, Axonal, Type 2h	30
676	c	CHR544	Charcot-Marie-Tooth Disease, Axonal, Type 2w	30
677	c	CHR489	Charcot-Marie-Tooth Disease, Axonal, Type 2q	30
678	c	ATL015	Atelosteogenesis, Type Ii	30
679		DFN270	Deafness, Dystonia, and Cerebral Hypomyelination	29
680		LGH003	Leigh Syndrome, French Canadian Type	29
681		SRN002	Sirenomelia	29
682	c	CHR671	Charcot-Marie-Tooth Disease, Axonal, Type 2r	29
683	c	CHR651	Charcot-Marie-Tooth Disease, Axonal, Type 2b2	28
684		SPR031	Sprengel Deformity	28
685	P	TRC031	Trichorhinophalangeal Syndrome	28
686		PRX086	Paroxysmal Exertion-Induced Dyskinesia	28
687	c	CHR652	Charcot-Marie-Tooth Disease, Axonal, Type 2i	28
688	c	CHR618	Charcot-Marie-Tooth Disease, Axonal, Type 2cc	28
689		CHR229	Chromosome 20p Duplication	27
690	c	PLY149	Polydactyly, Preaxial Iv	27
691		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	27
692		VSC049	Visceral Myopathy, Familial, with External Ophthalmoplegia	27
693	c	SNG011	Singleton-Merten Syndrome 1	27
694		VNF001	Vein of Galen Aneurysm	27
695		49X001	49, Xxxxx	26
696		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	26
697		INT277	Intellectual Disability-Developmental Delay-Contractures Syndrome	26
698	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	26
699		MCR067	Microcoria, Congenital	26
700		TTR013	Tetrasomy X	26
701		ECT089	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia	25
702	c	CHR617	Charcot-Marie-Tooth Disease, Axonal, Type 2z	25
703	c	CHR668	Charcot-Marie-Tooth Disease, Axonal, Type 2o	25
704		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	25
705		SRP002	Serpiginous Choroiditis	24
706		SPL027	Split-Hand/foot Malformation with Long Bone Deficiency 1	24
707	c	FRD006	Friedreich Ataxia 2	24
708	c	JVN019	Juvenile Temporal Arteritis	24
709	c	CHR613	Charcot-Marie-Tooth Disease, Axonal, Type 2x	24
710	c	CHR674	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b	24
711		GBM001	Gaba Aminotransferase Deficiency	23
712		MTP004	Metaphyseal Acroscyphodysplasia	23
713		CHR212	Chromosome 18p Duplication	23
714	c	NRC013	Narcolepsy 5	22
715	c	APR009	Aprosencephaly Syndrome	22
716	c	EPL093	Epilepsy, Idiopathic Generalized 7	22
717	c	CHR548	Charcot-Marie-Tooth Disease, Axonal, Type 2v	22
718	c	CHR678	Charcot-Marie-Tooth Disease, Axonal, Type 2dd	21
719	c	PLY136	Polydactyly, Preaxial I	21
720	c	STC012	Stickler Syndrome, Type Iv	21
721	c	EPL084	Epilepsy, Idiopathic Generalized 11	21
722	c	STC011	Stickler Syndrome, Type V	20
723		LRB003	Lrba Deficiency	20
724	c	EPL086	Epilepsy, Idiopathic Generalized 9	20
725	P	MTC144	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	20
726		OCL016	Ocular Albinism, X-Linked	19
727	c	NRC017	Narcolepsy 7	18
728		CNT063	Continuous Spike-Wave During Slow Sleep Syndrome	18
729	c	EPL098	Epilepsy, Idiopathic Generalized 12	18
730	c	EPL165	Epilepsy, Idiopathic Generalized 14	18
731	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	17
732	c	EPL205	Epilepsy, Idiopathic Generalized 13	17
733	c	EPL091	Epilepsy, Idiopathic Generalized 3	17
734		TRS010	Trisomy 17 Mosaicism	17
735	c	NRC011	Narcolepsy 3	17
736		WLF008	Wolffian Tumor	16
737		AQG003	Aquagenic Syringeal Acrokeratoderm	15
738	P	OTP002	Otopalatodigital Spectrum Disorders	15
739	c	GLT029	Glutaric Acidemia Type Iii	15
740	c	EPL208	Epilepsy, Idiopathic Generalized 8	14
741		FRB005	Freiberg's Disease	14
742		CHR199	Chromosome 15q Duplication	14
743	P	XKP001	Xk Aprosencephaly	13
744	c	EPL089	Epilepsy, Idiopathic Generalized 4	13
745		CHR258	Chromosome 6q Duplication	12
746	c	EPL090	Epilepsy, Idiopathic Generalized 5	12
747	c	NRC012	Narcolepsy 4	12
748	c	EPL092	Epilepsy, Idiopathic Generalized 2	11
749	c	NRC018	Narcolepsy 6	11
750		TRN026	Tranebjaerg Svejgaard Syndrome	9
751	c	SCL055	Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	7
752	c	SCL054	Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	6
753	c	VNT034	Ventricular Fibrillation, Paroxysmal Familial, 1	65
754		FBR011	Fibrodysplasia Ossificans Progressiva	65
755		RCT015	Reactive Arthritis	64
756		PRC002	Paracoccidioidomycosis	61
757		FRC011	Fructose Intolerance, Hereditary	60
758		SPN060	Spondylocarpotarsal Synostosis Syndrome	60
759		FCL081	Focal Cortical Dysplasia, Type Ii	60
760		MYC079	Myoclonic Epilepsy of Lafora	59
761	P	OVR049	Ovarian Disease	58
762	c	ESS001	Essential Tremor	58
763		CHR619	Chromosome 2q35 Duplication Syndrome	58
764		MLK003	Melkersson-Rosenthal Syndrome	58
765	P	ACT105	Acute Mountain Sickness	56
766		DBF001	D-Bifunctional Protein Deficiency	56
767	P	JRV004	Jervell and Lange-Nielsen Syndrome 1	55
768	P	TRM003	Tremor	55
769		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	54
770		HYP052	Hyperkalemic Periodic Paralysis	54
771		PHL006	Phelan-Mcdermid Syndrome	54
772		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	54
773	P	VND007	Van Der Woude Syndrome 1	54
774		AND020	Androgen Insensitivity, Partial	53
775		MLT145	Multiple Enchondromatosis, Maffucci Type	52
776		SMT003	Somatostatinoma	52
777		HNT002	Hantavirus Pulmonary Syndrome	52
778		PSD012	Pseudoachondroplasia	51
779	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	51
780		IDP035	Idiopathic Achalasia	50
781		IDP024	Idiopathic Inflammatory Myopathy	50
782		FCT004	Factor Xii Deficiency	50
783	c	MGL009	Megalencephalic Leukoencephalopathy with Subcortical Cysts 1	49
784		BRN003	Branchiooculofacial Syndrome	49
785		EPD015	Epidemic Typhus	48
786	P	PRS049	Persistent Mullerian Duct Syndrome	47
787	c	CHR546	Chronic Mountain Sickness	47
788	P	LSS036	Lissencephaly, X-Linked, 1	47
789		NM001	Noma	46
790		PLN006	Poland Syndrome	45
791	P	CPL003	Capillary Leak Syndrome	45
792	P	GLT035	Glutaric Acidemia I	44
793		LTR003	Lateral Medullary Syndrome	43
794		IRN004	Iron-Refractory Iron Deficiency Anemia	42
795		TNG001	Tungiasis	42
796	c	SYS007	Systemic Capillary Leak Syndrome	42
797	c	GM1004	Gm1-Gangliosidosis, Type I	42
798	c	SPL034	Split-Hand/foot Malformation 4	40
799		CHR518	Chromosome 9p Deletion Syndrome	40
800		ARM004	Aromatase Excess Syndrome	40
801	P	CTR177	Citrullinemia, Type Ii, Adult-Onset	39
802	P	JVN008	Juvenile Glaucoma	39
803	P	ACR062	Acroosteolysis	38
804	c	GLC083	Glaucoma 3, Primary Infantile, B	38
805		NNT024	Neonatal Stroke	38
806		CHL073	Cholestasis-Lymphedema Syndrome	38
807		ANR018	Anorchia	38
808	P	NNT042	Neonatal Lupus Erythematosus	36
809		PSD088	Pseudobulbar Affect	36
810		LND001	Landau-Kleffner Syndrome	35
811		BCK005	Becker Nevus Syndrome	35
812		SCH071	Schaaf-Yang Syndrome	35
813		TRL002	Tarlov Cysts	35
814	c	SPL033	Split-Hand/foot Malformation 6	35
815	c	PRM032	Primary Congenital Glaucoma	35
816	P	MYC078	Myoclonus and Ataxia	35
817		DQR001	De Quervain Disease	35
818		FMR018	Femoral-Facial Syndrome	35
819		WTK002	Witkop Syndrome	35
820	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	35
821	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	34
822	c	ATS384	Autosomal Dominant Non-Syndromic Intellectual Disability 2	34
823		17B003	17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	34
824	c	ACR044	Acroosteolysis Dominant Type	33
825		STT009	Sutton Disease 2	32
826		CHR247	Chromosome 4p Deletion	32
827	c	LSS037	Lissencephaly, X-Linked, 2	32
828		RBF003	Riboflavin Transporter Deficiency	29
829	c	ERL012	Early-Onset Glaucoma	29
830	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	29
831		CRT039	Corticosterone Methyloxidase Type I Deficiency	29
832		CHR265	Chromosome 8p Duplication	29
833		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	28
834	c	ATS204	Autosomal Recessive Non-Syndromic Intellectual Disability	28
835		ESN016	Eosinophilic Pustular Folliculitis	28
836		KRN007	Kerion Celsi	28
837	c	SPS212	Spastic Ataxia 5, Autosomal Recessive	28
838	c	ATS385	Autosomal Dominant Non-Syndromic Intellectual Disability 3	27
839		EMB015	Embryonal Tumor with Multilayered Rosettes	27
840	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
841		BJL001	Bejel	27
842		CHR270	Chromosome 9p Duplication	27
843		LKN007	Leukonychia Totalis	26
844		CHR268	Chromosome 8q Duplication	26
845		CHR381	Chromosome 17q23.1-Q23.2 Deletion Syndrome	25
846		ACR034	Acrogeria, Gottron Type	25
847	P	PRX010	Paroxysmal Ventricular Fibrillation	25
848		TCH005	Tièche-Jadassohn Nevus	25
849	P	MGL010	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a	25
850		CHR248	Chromosome 4p Duplication	25
851		MNS016	Monosomy 7 of Bone Marrow	25
852	c	SPS142	Spastic Ataxia 2, Autosomal Recessive	24
853		CHR190	Chromosome 12p Duplication	24
854		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	23
855	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	23
856	c	NNT025	Neonatal Systemic Lupus Erythematosus	23
857		CHR208	Chromosome 17p Deletion	23
858		CHR243	Chromosome 3p Deletion	22
859		CHR252	Chromosome 5p Duplication	21
860	c	GLC054	Glaucoma 3, Primary Congenital, D	20
861		DBT018	Diabetic Mastopathy	20
862		IQS001	Iqsec2	19
863		CHR257	Chromosome 6q Deletion	18
864	c	TRM022	Tremor, Hereditary Essential, 5	18
865	c	FMR009	Fmr1-Related Primary Ovarian Insufficiency	18
866		PRS053	Parsonage Turner Syndrome	18
867	c	FBR079	Fibromatosis, Gingival, 2	18
868		CHR182	Chromosome 10p Duplication	18
869		1QD001	1q Duplications	18
870	c	ATS387	Autosomal Dominant Non-Syndromic Intellectual Disability 5	17
871	c	GLC089	Glaucoma 3, Primary Congenital, E	17
872		CHD007	Chd2 Myoclonic Encephalopathy	17
873	c	FBR077	Fibromatosis, Gingival, 3	17
874	c	TRM017	Tremor, Hereditary Essential, 4	17
875	P	17Q010	17q12 Deletion Syndrome	16
876		PMP003	Pemphigus and Fogo Selvagem	16
877		HND013	Handl Syndrome	16
878		CHR249	Chromosome 4q Deletion	15
879		CHR271	Chromosome 9q Deletion	15
880	c	FBR080	Fibromatosis, Gingival, 4	15
881	c	VNT012	Ventricular Fibrillation, Paroxysmal Familial, 2	15
882		CHR244	Chromosome 3p Duplication	15
883		CHR272	Chromosome 9q Duplication	15
884	c	ATS383	Autosomal Dominant Non-Syndromic Intellectual Disability 1	15
885		CHR184	Chromosome 10q Duplication	15
886	c	GSR001	Gosr2-Related Progressive Myoclonus Ataxia	14
887		CHR264	Chromosome 8p Deletion	14
888		CHR230	Chromosome 20q Deletion	14
889		CHR188	Chromosome 11q Duplication	14
890	c	GLC052	Glaucoma 3, Primary Congenital, C	14
891		CHR238	Chromosome 2p Duplication	13
892		CHR195	Chromosome 14q Deletion	13
893		CHR261	Chromosome 7p Duplication	13
894		CHR220	Chromosome 1p Deletion	13
895		CHR263	Chromosome 7q Duplication	13
896		CHR183	Chromosome 10q Deletion	13
897		CHR223	Chromosome 1q Deletion	13
898		CHR250	Chromosome 4q Duplication	13
899		CHR189	Chromosome 12p Deletion	12
900	c	SYN070	Syngap1-Related Non-Syndromic Intellectual Disability	12
901		CHR192	Chromosome 12q Duplication	12
902		CHR203	Chromosome 16p Duplication	12
903		CHR256	Chromosome 6p Duplication	12
904		CHR239	Chromosome 2q Deletion	12
905		CHR233	Chromosome 21q Deletion	12
906		CHR196	Chromosome 14q Duplication	12
907		CHR235	Chromosome 22q Deletion	11
908		CHR181	Chromosome 10p Deletion	11
909		CHR240	Chromosome 2q Duplication	11
910	c	TRM016	Tremor, Hereditary Essential, 3	11
911		CHR198	Chromosome 15q Deletion	11
912		CHR194	Chromosome 13q Duplication	11
913		CHR255	Chromosome 6p Deletion	11
914		CHR207	Chromosome 16q Duplication	11
915		CHR231	Chromosome 20q Duplication	11
916		CHR217	Chromosome 19q Deletion	11
917	c	ATS390	Autosomal Dominant Non-Syndromic Intellectual Disability 9	11
918	c	ATS388	Autosomal Dominant Non-Syndromic Intellectual Disability 6	11
919		CHR210	Chromosome 17q Duplication	11
920		AHM001	Ahumada Del Castillo Syndrome	10
921		CHR214	Chromosome 18q Duplication	10
922		CHR185	Chromosome 11p Deletion	10
923		CHR237	Chromosome 2p Deletion	10
924		STT042	Stt3a-Cdg and Stt3b-Cdg	10
925		CHR221	Chromosome 1p Duplication	10
926	c	ATS389	Autosomal Dominant Non-Syndromic Intellectual Disability 8	10
927		CHR274	Chromosome Xq Duplication	10
928		CHR267	Chromosome 8q Deletion	10
929		SPL023	Split Hand/foot Malformation X-Linked	9
930		CHR215	Chromosome 19p Deletion	9
931		CHR191	Chromosome 12q Deletion	9
932		CHR260	Chromosome 7p Deletion	9
933		CHR228	Chromosome 20p Deletion	9
934	c	ADL083	Adult-Onset Citrullinemia Type I	9
935		CHR218	Chromosome 19q Duplication	9
936		CHR245	Chromosome 3q Deletion	8
937	c	ATS386	Autosomal Dominant Non-Syndromic Intellectual Disability 4	8
938		CHR206	Chromosome 16q Deletion	8
939		CHR234	Chromosome 21q Duplication	8
940		MPN002	Mepan Syndrome	7
941		CHR216	Chromosome 19p Duplication	5
942	c	17Q009	17q12 Recurrent Deletion Syndrome	3
943	P	RTT002	Rett Syndrome	84
944		ALP046	Alport Syndrome, X-Linked	74
945	P	DYS154	Dystonia	65
946		CMP005	Campomelic Dysplasia	65
947		RCK004	Rickets	65
948		DSM004	Desmoid Tumor	63
949		FCT007	Factor Vii Deficiency	61
950		LPD016	Lipoid Proteinosis of Urbach and Wiethe	61
951	P	PRM011	Primary Ciliary Dyskinesia	56
952	c	DYS056	Dystonia 12	54
953		ISV001	Isovaleric Acidemia	52
954	c	BNG091	Benign Chronic Pemphigus	51
955		GLY014	Glycerol Kinase Deficiency	51
956		CNG046	Congenital Fiber-Type Disproportion	51
957		RTC002	Reticular Dysgenesis	50
958		CRN005	Craniofrontonasal Syndrome	48
959		MCL075	Macular Dystrophy, Corneal	48
960		PLS029	Plasminogen Activator Inhibitor-1 Deficiency	46
961		WDM004	Wiedemann-Steiner Syndrome	46
962	P	ENC008	Encephalocele	45
963	P	PRM018	Primary Hypertrophic Osteoarthropathy	45
964	c	DYS119	Dystonia 9	45
965	P	MND003	Mandibuloacral Dysplasia with Type a Lipodystrophy	45
966		BHR002	Bohring-Opitz Syndrome	45
967		NRL002	Neurilemmomatosis	44
968		HND004	Hand-Foot-Genital Syndrome	43
969		PRL019	Prolidase Deficiency	43
970		ACH001	Acheiropody	42
971	c	STR085	Striatonigral Degeneration, Infantile	42
972		TTR005	Tetrahydrobiopterin Deficiency	41
973		EPL131	Epilepsy, Pyridoxine-Dependent	41
974		CRN286	Corneal Dystrophy, Meesmann	41
975		ART035	Arterial Calcification of Infancy	39
976		PTC001	Potocki-Shaffer Syndrome	38
977		HYP737	Hyperhidrosis, Gustatory	38
978		TLS001	Tolosa-Hunt Syndrome	37
979	P	HYP769	Hyperlysinemia, Type I	37
980	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	35
981		SCL025	Scleromyxedema	35
982		CTL005	Catel-Manzke Syndrome	35
983		KNZ001	Kanzaki Disease	35
984	P	UNC017	Uncombable Hair Syndrome 1	34
985		ESN009	Eosinophil Peroxidase Deficiency	34
986	P	PRK101	Parkinsonism-Dystonia, Infantile, 1	33
987	P	STR001	Striatonigral Degeneration	33
988		OCL033	Oculocerebral Syndrome with Hypopigmentation	33
989	P	OMD003	Omodysplasia	33
990		ICH026	Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis	32
991	P	ACR093	Acrofrontofacionasal Dysostosis	32
992	c	OMD001	Omodysplasia 1	31
993		CRD017	Cardiac Valvular Dysplasia, X-Linked	27
994	c	BSL030	Basal Encephalocele	26
995	c	ACR103	Acrofrontofacionasal Dysostosis 1	25
996	c	FRN037	Frontal Encephalocele	25
997		LRY026	Laryngeal Cleft	25
998	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	23
999	c	RTT008	Rett Syndrome, Congenital Variant	23
1000	c	DYS151	Dystonia 25	23
1001	c	CLR068	Ciliary Dyskinesia, Primary, 5	22
1002	c	PRK102	Parkinsonism-Dystonia, Infantile, 2	22
1003		CMP092	Complement Component 8 Deficiency, Type Ii	20
1004		CMP093	Complement Component 8 Deficiency, Type I	18
1005	c	UNC019	Uncombable Hair Syndrome 2	16
1006	c	UNC018	Uncombable Hair Syndrome 3	16
1007	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
1008		MLD001	Melioidosis	73
1009		CRN036	Craniopharyngioma	66
1010		HTC003	Hutchinson-Gilford Progeria Syndrome	65
1011	c	DPH024	Diaphragmatic Hernia, Congenital	65
1012	P	PLY014	Polycystic Kidney Disease	63
1013	P	CRN015	Cornelia De Lange Syndrome	62
1014		CRC021	Carcinosarcoma	62
1015	P	PTN014	Patent Ductus Arteriosus 1	61
1016	P	HYP035	Hypophosphatasia	59
1017		GLB001	Gilbert Syndrome	58
1018	c	GLC092	Glaucoma, Primary Open Angle	58
1019		GLY010	Glycine Encephalopathy	56
1020	c	DWL002	Dowling-Degos Disease 1	56
1021	P	SLV001	Silver-Russell Syndrome	55
1022		OCL069	Ocular Motor Apraxia	55
1023		CYS010	Cystinosis	55
1024	c	CRN139	Cornelia De Lange Syndrome 1	55
1025		SGW002	Segawa Syndrome, Autosomal Recessive	54
1026	P	INF037	Inflammatory Bowel Disease	54
1027	c	DYS191	Dystonia 1, Torsion, Autosomal Dominant	54
1028		CRT033	Corticobasal Degeneration	54
1029	P	RTN016	Retinal Degeneration	53
1030	c	INF071	Inflammatory Bowel Disease 1	53
1031		PST062	Pustulosis Palmaris Et Plantaris	52
1032	c	XNT010	Xanthinuria, Type I	52
1033	c	HYP293	Hypophosphatasia, Adult	52
1034	P	WLL002	Weill-Marchesani Syndrome	52
1035		CLD007	Cold Agglutinin Disease	51
1036	c	HYP292	Hypophosphatasia, Infantile	51
1037		KLN009	Kleine-Levin Hibernation Syndrome	50
1038	c	ALB010	Albinism, Oculocutaneous, Type Ib	49
1039		BRS002	Beare-Stevenson Cutis Gyrata Syndrome	49
1040		TWN001	Twin-to-Twin Transfusion Syndrome	49
1041	P	DNR001	Duane Retraction Syndrome	49
1042		HYP781	Hypoascorbemia	48
1043	c	BRC079	Brachydactyly, Type A2	48
1044	P	FML068	Familial Hypocalciuric Hypercalcemia	48
1045		TRC023	Trichinosis	48
1046	c	LTN004	Late-Onset Retinal Degeneration	47
1047		AMB001	Amebiasis	47
1048		MRC002	Marcus Gunn Phenomenon	47
1049		KPS002	Kaposiform Hemangioendothelioma	46
1050		CHR492	Chromosome 13q14 Deletion Syndrome	46
1051	P	DWL001	Dowling-Degos Disease	46
1052		PRS115	Prosthetic Joint Infection	46
1053		GLT007	Glutathione Synthetase Deficiency	45
1054		HST006	Histidinemia	45
1055	c	BRC052	Brachydactyly, Type B2	44
1056		TKL001	Tukel Syndrome	44
1057		ADP007	Adie Pupil	43
1058	c	MYP123	Myopathy, Centronuclear, 1	43
1059	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	43
1060		LNR006	Linear Iga Disease	43
1061	c	WRB002	Warburg Micro Syndrome 1	42
1062		LRW001	Leri-Weill Dyschondrosteosis	42
1063		KLV001	Kluver-Bucy Syndrome	42
1064		SPR007	Superior Mesenteric Artery Syndrome	42
1065	c	LPD019	Lipodystrophy, Partial, Acquired	42
1066		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	42
1067	P	XNT004	Xanthinuria	42
1068	c	AMY069	Amyotrophic Lateral Sclerosis 21	42
1069	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	41
1070		PYR037	Pyruvate Carboxylase Deficiency	41
1071		MLD006	Mal De Meleda	41
1072	c	DNR003	Duane Retraction Syndrome 1	40
1073		MYT030	Myotonia, Potassium-Aggravated	39
1074		HMC038	Hemochromatosis, Neonatal	37
1075	P	SRT003	Sertoli-Leydig Cell Tumor	37
1076		CRB079	Cerebrospinal Fluid Leak	37
1077	c	LPD034	Lipodystrophy, Familial Partial, Type 4	36
1078	P	CRB154	Cerebrocostomandibular Syndrome	36
1079	P	SCH017	Schindler Disease	35
1080		NCT003	N-Acetylglutamate Synthase Deficiency	35
1081	c	XNT011	Xanthinuria, Type Ii	35
1082	P	ACR106	Acrocephalopolysyndactyly Type Iii	34
1083		MDN008	Median Arcuate Ligament Syndrome	34
1084	c	HRD142	Hereditary Xanthinuria	34
1085	c	SCH069	Schindler Disease, Type I	34
1086		GRS001	Gerstmann Syndrome	34
1087		MLN011	Malonyl-Coa Decarboxylase Deficiency	33
1088		HMM002	Haim-Munk Syndrome	33
1089	c	GLC041	Glaucoma 1, Open Angle, a	32
1090	c	DNT025	Dentinogenesis Imperfecta 1	31
1091	P	FRS004	Free Sialic Acid Storage Disorders	31
1092	c	SCK011	Seckel Syndrome 5	31
1093		12Q002	12q14 Microdeletion Syndrome	31
1094		IVC001	Ivic Syndrome	30
1095		FRN022	Frontofacionasal Dysplasia	29
1096	P	HRZ002	Horizontal Gaze Palsy with Progressive Scoliosis	29
1097		CHR281	Chronic Hiccups	28
1098		NTR011	Neutrophil-Specific Granule Deficiency	28
1099	c	DYS163	Dystonia 4, Torsion, Autosomal Dominant	28
1100		HYP160	Hyperkeratosis Lenticularis Perstans	28
1101	c	CRN134	Cornelia De Lange Syndrome 2	28
1102		MLD010	Mild Phenylketonuria	27
1103		SPN125	Spondyloenchondrodysplasia	27
1104	c	MYP148	Myopathy, Centronuclear, 5	27
1105		PRN035	Perniosis	27
1106		XLN012	X-Linked Congenital Stationary Night Blindness	27
1107	c	DYS063	Dystonia 2, Torsion, Autosomal Recessive	27
1108		PGD001	Pagod Syndrome	26
1109	P	TTH021	Tethered Cord Syndrome	26
1110	c	GZP003	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1	26
1111		EPL230	Epilepsy with Myoclonic-Atonic Seizures	26
1112	c	LPD036	Lipodystrophy, Familial Partial, Type 6	26
1113		TTR024	Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities	26
1114		CHR266	Chromosome 8p23.1 Deletion	26
1115		FBR088	Fibromatosis, Gingival, with Progressive Deafness	26
1116	c	ACR105	Acrofrontofacionasal Dysostosis 2	26
1117	c	WLL040	Weill-Marchesani Syndrome 4	25
1118	c	CRN215	Cornelia De Lange Syndrome 4	25
1119	c	LPD030	Lipodystrophy, Familial Partial, Type 5	25
1120		YNG002	Young Syndrome	25
1121		CLC017	Calcification of Joints and Arteries	25
1122		SPN152	Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta	24
1123	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	24
1124	c	CRN209	Cornelia De Lange Syndrome 5	24
1125	c	INF077	Inflammatory Bowel Disease 19	24
1126		ACR107	Acrofacial Dysostosis, Palagonia Type	24
1127	c	CRN135	Cornelia De Lange Syndrome 3	23
1128		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	23
1129	P	ALP068	Alopecia-Intellectual Disability Syndrome	23
1130		LCH008	Lichen Planus Pigmentosus	22
1131	c	MYP098	Myopathy, Centronuclear, 4	22
1132		CHR241	Chromosome 2q24 Microdeletion Syndrome	22
1133		RTN145	Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis	22
1134		OGL001	Ogilvie Syndrome	21
1135		ACR019	Acropectoral Syndrome	21
1136		DSS022	Disseminated Peritoneal Leiomyomatosis	21
1137		ACN013	Acanthocheilonemiasis	21
1138	c	CHR227	Chromosome 20 Trisomy	20
1139	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	20
1140		ATS012	Autosomal Dominant Partial Epilepsy with Auditory Features	19
1141		BRC100	Brachydactyly, Combined B and E Types	19
1142	c	PLY141	Polycystic Kidney Disease 5	19
1143		XLN134	X-Linked Intellectual Disability, Siderius Type	19
1144	c	MYP096	Myopathy, Centronuclear, 3	19
1145		CRP036	Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	19
1146		LNR010	Linear Lichen Planus	19
1147	c	DNR004	Duane Retraction Syndrome 2	18
1148	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
1149	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	18
1150	c	GLC079	Glaucoma 1, Open Angle, P	18
1151		YCH001	Y Chromosome Infertility	18
1152		ABS001	Absence of Fingerprints Congenital Milia	18
1153	c	GZP004	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2	17
1154		LRG010	L-Arginine:glycine Amidinotransferase Deficiency	17
1155	c	INF067	Inflammatory Bowel Disease 10	17
1156		ULN021	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	17
1157	c	INF068	Inflammatory Bowel Disease 13	17
1158	c	DWL003	Dowling-Degos Disease 2	17
1159	c	CRN068	Corneal Endothelial Dystrophy Type 2	17
1160		ADL094	Adolescent-Onset Dystonia of Mixed Type	17
1161		PYR015	Pyridoxal 5'-Phosphate-Dependent Epilepsy	17
1162	c	DPH016	Diaphragmatic Hernia 3	17
1163	c	INF093	Inflammatory Bowel Disease 14	16
1164	c	INF160	Inflammatory Bowel Disease 17	16
1165		CLD006	Cleidorhizomelic Syndrome	16
1166	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	16
1167	c	DWL004	Dowling-Degos Disease 4	16
1168	c	DNT047	Dentinogenesis Imperfecta Type 2	15
1169		RGH003	Right Ventricle Hypoplasia	15
1170	c	MRD001	Marden Walker Like Syndrome	15
1171	c	DPH025	Diaphragmatic Hernia 2	15
1172		ANP019	Anophthalmos with Limb Anomalies	14
1173		OCL031	Oculo-Cerebral Dysplasia	14
1174	c	INF047	Infantile Free Sialic Acid Storage Disease	14
1175		BNG042	Benign Multicystic Peritoneal Mesothelioma	13
1176		SCN061	Scn8a Encephalopathy	13
1177		HYP642	Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency	13
1178		ABS007	Absent Patella	13
1179	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	12
1180		MLP003	Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type	12
1181		RRD001	Reardon Wilson Cavanagh Syndrome	12
1182		DNM003	Daneman Davy Mancer Syndrome	11
1183		MN1002	Man1b1-Cdg	11
1184		ISL037	Isolated Anterior Cervical Hypertrichosis	11
1185		CHL110	Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency	10
1186		EPL008	Epilepsy Occipital Calcifications	10
1187	c	PRM246	Primary Tethered Cord Syndrome	10
1188	P	HRN027	Hernia, Anterior Diaphragmatic	10
1189		3LP002	3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency	10
1190		LYM044	Lymphocytic Infiltrate of Jessner	10
1191	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	8
1192	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	7
1193	c	MLG021	Malignant Sertoli-Leydig Cell Tumor	7
1194		15Q006	15q13.3 Microduplication Syndrome	6
1195	c	MCL042	Macular Degeneration, Age-Related, 1	83
1196		PLM134	Pulmonary Fibrosis, Idiopathic	74
1197	c	MLT156	Multiple Endocrine Neoplasia, Type I	72
1198		WLS001	Wilson Disease	70
1199		APR006	Apert Syndrome	69
1200	P	CLD001	Cleidocranial Dysplasia	65
1201		CRZ001	Crouzon Syndrome	65
1202		GTL001	Gitelman Syndrome	63
1203	c	LNG044	Long Qt Syndrome 1	62
1204	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	61
1205	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
1206		PRT058	Pure Autonomic Failure	61
1207		CCC001	Coccidioidomycosis	60
1208		TRD006	Tardive Dyskinesia	60
1209		PND002	Pendred Syndrome	59
1210		ZLL002	Zollinger-Ellison Syndrome	59
1211		VGT001	Vogt-Koyanagi-Harada Disease	59
1212		SLC006	Silicosis	57
1213		BTN003	Biotinidase Deficiency	57
1214		KRT002	Keratomalacia	56
1215		FDB001	Foodborne Botulism	56
1216		ARM002	Aromatic L-Amino Acid Decarboxylase Deficiency	56
1217	P	HYP050	Hyperinsulinemic Hypoglycemia	55
1218		TMT001	Timothy Syndrome	53
1219	P	PLG001	Pelger-Huet Anomaly	53
1220		RSD004	Rosai-Dorfman Disease	52
1221	P	LPR002	Leopard Syndrome	51
1222		HNC001	Henoch-Schoenlein Purpura	51
1223		PSD014	Pseudopseudohypoparathyroidism	51
1224	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	50
1225		HYP088	Hyper-Igd Syndrome	50
1226		DFF035	Diffuse Cutaneous Systemic Sclerosis	50
1227		FBR008	Fibrillary Astrocytoma	49
1228	c	CNR007	Cone-Rod Dystrophy 6	49
1229		MTC020	Mitochondrial Complex Ii Deficiency	49
1230	P	BRN006	Branchiootorenal Syndrome	47
1231		ICH002	Ichthyosis Bullosa of Siemens	47
1232	c	46X001	46 Xy Gonadal Dysgenesis	46
1233		BRK001	Brooke-Spiegler Syndrome	46
1234		PLM041	Pulmonary Valve Stenosis	45
1235		FLT006	Floating-Harbor Syndrome	45
1236	c	LPD033	Lipodystrophy, Congenital Generalized, Type 2	45
1237	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	45
1238		RTR011	Retroperitoneal Fibrosis	44
1239	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	44
1240	c	CHL118	Cholestasis, Benign Recurrent Intrahepatic, 2	44
1241		PNN005	Panencephalitis, Subacute Sclerosing	44
1242		CRS005	Crest Syndrome	44
1243	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	44
1244	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	43
1245		IDP033	Idiopathic Edema	43
1246	c	ACH021	Achromatopsia 3	43
1247	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	42
1248	P	CNG436	Congenital Disorder of Deglycosylation	42
1249	c	CHR579	Chiari Malformation Type Ii	42
1250	c	MCR254	Microcephaly 4, Primary, Autosomal Recessive	41
1251		TLP001	Talipes Equinovarus	41
1252	c	LNG096	Long Qt Syndrome 15	40
1253	c	LNG057	Long Qt Syndrome 13	40
1254	c	BRN131	Branchiootorenal Syndrome 1	39
1255		DRC001	Dracunculiasis	39
1256	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	38
1257		TST023	Testotoxicosis	38
1258		DND005	Dandy-Walker Complex	38
1259	c	LPR012	Leopard Syndrome 1	38
1260	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	38
1261		AMN007	Aminoacylase 1 Deficiency	37
1262		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	37
1263		MKL001	Mikulicz Disease	37
1264	P	YWS001	Yaws	36
1265	c	MCR247	Microcephaly 1, Primary, Autosomal Recessive	36
1266	c	LNG056	Long Qt Syndrome 12	35
1267		CHR662	Chromosome 15q13.3 Deletion Syndrome	35
1268		MRK002	Marek Disease	34
1269		GRV012	Grover's Disease	34
1270		MYC088	Mycobacterium Avium Complex Infections	33
1271	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	33
1272	P	CTR077	Citrullinemia, Type Ii, Neonatal-Onset	33
1273	P	MTP005	Metaphyseal Anadysplasia	33
1274		PRM050	Primary Orthostatic Tremor	32
1275		NRM009	Normokalemic Periodic Paralysis	32
1276		PLM052	Pulmonary Arteriovenous Malformation	32
1277		ADL060	Adult Polyglucosan Body Disease	32
1278		LNG054	Lung Agenesis	32
1279	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	31
1280	c	PRM015	Primary Cerebellar Degeneration	31
1281		3MT011	3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	31
1282		5LP001	5-Alpha Reductase Deficiency	30
1283		PRT049	Partial Deletion of Y	30
1284	c	GM1006	Gm1-Gangliosidosis, Type Iii	30
1285	c	PRM195	Primary Lateral Sclerosis, Juvenile	30
1286		WLD004	Wildervanck Syndrome	29
1287		KRT013	Keratolytic Winter Erythema	29
1288	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	29
1289	P	VSC018	Visceral Steatosis	29
1290		DRM050	Dermographism, Familial	28
1291		SCC011	Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	28
1292	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
1293		CRN238	Corneal Dystrophy, Epithelial Basement Membrane	28
1294		PRX034	Peroxisome Disorders	28
1295	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	27
1296		MYT019	May-Thurner Syndrome	27
1297	c	LNG098	Long Qt Syndrome 14	27
1298	c	RNG016	Ring Chromosome 20	27
1299	c	SYN060	Syndactyly, Type Iii	26
1300		FBR028	Fibrosing Mediastinitis	26
1301	c	MCL078	Macular Degeneration, Age-Related, 14	26
1302		PLY135	Polydactyly, Postaxial, with Progressive Myopia	25
1303	c	VSC053	Visceral Steatosis, Congenital	25
1304		MLD017	Mal De Debarquement Syndrome	25
1305		CTN016	Cutaneous Larva Migrans	25
1306	c	MCL043	Macular Degeneration, Age-Related, 2	24
1307	c	MGR031	Migraine, Familial Hemiplegic, 3	24
1308	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	24
1309		MLL004	Mallory-Weiss Syndrome	24
1310	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	24
1311	P	PST016	Posterior Polar Cataract	24
1312		UNL013	Unilateral Absence of a Pulmonary Artery	23
1313		DST011	Distal Chromosome 18q Deletion Syndrome	23
1314		AMN009	Amniotic Band Syndrome	23
1315	c	SBC039	Subacute Cerebellar Degeneration	23
1316		MNT254	Mental Retardation Syndrome, Mietens-Weber Type	23
1317	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	22
1318	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	22
1319	c	MCL030	Macular Degeneration, Age-Related, 10	22
1320	c	GNS004	Geniospasm 1	21
1321	c	MCL051	Macular Degeneration, Age-Related, 12	21
1322		THP001	Thiopurine S Methyltranferase Deficiency	21
1323	c	ERL004	Early Yaws	21
1324	c	MCR255	Microcephaly 9, Primary, Autosomal Recessive	21
1325		PRX013	Proximal Chromosome 18q Deletion Syndrome	20
1326	c	MCL052	Macular Degeneration, Age-Related, 13	20
1327	c	LTY001	Late Yaws	19
1328		AMY010	Amyloidosis Beta2m	19
1329	c	BRN086	Branchiootorenal Syndrome 2	19
1330		NCT004	N Acetyltransferase Deficiency	18
1331	P	MCL058	Macular Degeneration, Early-Onset	18
1332	P	RNG031	Ring Chromosome Y Syndrome	18
1333	c	46X002	46 Xx Gonadal Dysgenesis	18
1334		BRH001	Boerhaave Syndrome	17
1335		CRB155	Carbonic Anhydrase Va Deficiency	17
1336	c	MCL039	Macular Degeneration, Age-Related, 8	16
1337		16P002	16p11.2 Deletion Syndrome	16
1338	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	16
1339	c	MCL041	Macular Degeneration, Age-Related, 7	16
1340	c	MCL077	Macular Degeneration, Age-Related, 5	16
1341	c	MCL032	Macular Degeneration, Age-Related, 11	16
1342		MTC112	Mitochondrial Dna-Associated Leigh Syndrome	16
1343		ISL067	Isolated Congenital Megalocornea	16
1344	c	MCL038	Macular Degeneration, Age-Related, 4	16
1345	c	MCL036	Macular Degeneration, Age-Related, 6	16
1346		ACH040	Achoo Syndrome	16
1347		DPL003	Diploid-Triploid Mosaicism	15
1348	c	MTP014	Metaphyseal Anadysplasia 2	15
1349	c	MCL044	Macular Degeneration, Age-Related, 9	15
1350	c	MCL065	Macular Degeneration, Age-Related, 15	15
1351		RDC003	Red Cell Phospholipid Defect with Hemolysis	14
1352		CTR009	Cataract Congenital Dominant Non Nuclear	13
1353		16P008	16p11.2 Duplication	13
1354		HTC001	Hutchinson Incisors	13
1355		BST005	Bustos Simosa Pinto Cisternas Syndrome	12
1356	c	SYN050	Syndactyly Type 6	12
1357	P	HRD194	Hereditary Geniospasm	12
1358		CHR459	Chromosome Xp Deletion	12
1359		PCS002	Pacs1-Related Syndrome	12
1360		NPH026	Nephrotic Syndrome, Idiopathic, Steroid-Resistant	11
1361		STB003	Setbp1 Disorder	10
1362	c	ACT189	Acute Neonatal Citrullinemia Type I	10
1363		FTL011	Fetal Aminopterin Syndrome	10
1364	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	9
1365	c	ERL039	Early-Onset Anterior Polar Cataract	9
1366		BRK005	Berk-Tabatznik Syndrome	9
1367		PRS059	Prostaglandin-Endoperoxide Synthase Deficiency	8
1368	c	ICH015	Ichthyosis Lamellar 2	7
1369		TMM013	Tmem70 Defect	7
1370		CHR460	Chromosome Xq Deletion	7
1371		CHR186	Chromosome 11p Duplication	7
1372		GRN053	Grin2b Related Syndrome	7
1373		SPS189	Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	5
1374	c	SPN225	Spondyloarthropathy 1	75
1375		PMS001	Poems Syndrome	64
1376	P	PRD006	Prader-Willi Syndrome	63
1377		QFV001	Q Fever	62
1378	c	MNN047	Mannosidosis, Alpha B, Lysosomal	59
1379		CNT061	Conotruncal Heart Malformations	58
1380	P	AXN002	Axenfeld-Rieger Syndrome	56
1381	c	HYD046	Hydatidiform Mole, Recurrent, 1	56
1382	P	SPN052	Spondyloarthropathy	56
1383		CHY002	Chylomicron Retention Disease	55
1384		SCH002	Schnitzler Syndrome	54
1385	P	LFT003	Left Ventricular Noncompaction	53
1386	P	ICH001	Ichthyosis Vulgaris	53
1387		PLM026	Pilomatrixoma	53
1388		ANT003	Antley-Bixler Syndrome	51
1389	c	HYP331	Hyperphenylalaninemia, Bh4-Deficient, a	51
1390		DRG026	Drug Reaction with Eosinophilia and Systemic Symptoms	51
1391		BLL001	Baller-Gerold Syndrome	51
1392	P	MNN019	Mannosidosis, Beta a, Lysosomal	51
1393	P	ALT001	Alternating Hemiplegia of Childhood	51
1394		CTS011	Cutis Marmorata Telangiectatica Congenita	50
1395	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	50
1396		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	49
1397	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	49
1398		YNS002	Yunis-Varon Syndrome	49
1399		SRS007	Sorsby Fundus Dystrophy	49
1400		AML029	Ameloblastoma	49
1401		ENC010	Encephalocraniocutaneous Lipomatosis	48
1402	c	DSB006	Desbuquois Dysplasia 1	45
1403		HMF008	Hemifacial Atrophy, Progressive	40
1404		RPD002	Rapadilino Syndrome	39
1405		NVS015	Nevus Comedonicus	39
1406		CRL004	Caroli Disease	39
1407		PNB004	Panbronchiolitis, Diffuse	38
1408		PRG123	Progeroid Syndrome, Neonatal	35
1409		INT104	Intravascular Papillary Endothelial Hyperplasia	35
1410	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	34
1411	c	ATL011	Atelosteogenesis, Type I	33
1412		TTR012	Tetrasomy 9p	33
1413		BRW004	Brown-Sequard Syndrome	33
1414		WSM003	Weismann-Netter Syndrome	30
1415		SDD002	Sudden Infant Death with Dysgenesis of the Testes Syndrome	28
1416	P	DSB002	Desbuquois Dysplasia	28
1417	c	RNG029	Ring Chromosome 14 Syndrome	28
1418		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	26
1419		CHR588	Chromosome 8q22.1 Duplication Syndrome	25
1420	c	DSB005	Desbuquois Dysplasia 2	25
1421		ARD001	Aredyld	25
1422	P	PPL026	Papular Mucinosis	23
1423	c	LFT017	Left Ventricular Noncompaction 8	21
1424	c	LFT018	Left Ventricular Noncompaction 10	19
1425	c	HYD041	Hydatidiform Mole, Recurrent, 2	18
1426		RBB001	Ribbing Disease	18
1427	c	SPN226	Spondyloarthropathy 2	15
1428		QZM001	Qazi Markouizos Syndrome	15
1429	c	PRD028	Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15	15
1430		BSC003	Buschke Lowenstein Tumor	15
1431	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	13
1432	c	PRD023	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2	13
1433	c	PRD025	Prader-Willi Syndrome Due to Imprinting Mutation	11
1434	c	SPN256	Spondyloarthropathy 3	11
1435	c	PPL045	Papular Mucinosis of Infancy	10
1436	c	PRD042	Prader-Willi-Like Syndrome Due to a Point Mutation	7
1437	c	PRD024	Prader-Willi Syndrome Due to Translocation	6
1438	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	6
1439		ACR007	Acromegaly	71
1440		GLL008	Gilles De La Tourette Syndrome	68
1441		CHR103	Charge Syndrome	64
1442		PLL001	Pallister-Hall Syndrome	64
1443	P	RBL001	Rubella	64
1444	P	EHL001	Ehlers-Danlos Syndrome	61
1445		MYX005	Myxoid Liposarcoma	59
1446	P	BCK002	Beckwith-Wiedemann Syndrome	59
1447		ORN008	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	59
1448		GRG001	Greig Cephalopolysyndactyly Syndrome	58
1449	P	LCH002	Lichen Planus	58
1450		SPN008	Spondyloepiphyseal Dysplasia Congenita	57
1451	P	MLT007	Multiple Epiphyseal Dysplasia	57
1452		WLL006	Wells Syndrome	57
1453		BLR001	Biliary Atresia	57
1454	P	HYP076	Hyperthyroidism	56
1455	P	AGN002	Agnosia	56
1456		NPH018	Nephrogenic Systemic Fibrosis	56
1457		DYS164	Dyskeratosis Congenita, X-Linked	56
1458	P	STS008	Sotos Syndrome 1	56
1459		MMM001	Mammary Paget's Disease	55
1460		CHR081	Choroideremia	55
1461	P	HYP760	Hypothyroidism, Congenital, Nongoitrous, 2	54
1462		RYS001	Reye Syndrome	54
1463		HYP458	Hyper Ige Syndrome	52
1464	P	APL006	Aplasia Cutis Congenita	52
1465	c	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	52
1466		ARG007	Argininemia	51
1467		EPD006	Epidermolysis Bullosa Acquisita	51
1468		NDL003	Nodular Nonsuppurative Panniculitis	51
1469		CLB010	Coloboma of Macula	51
1470		SBL008	Sea-Blue Histiocyte Disease	51
1471		CNN011	Cenani-Lenz Syndactyly Syndrome	51
1472		MMB001	Membranoproliferative Glomerulonephritis	51
1473		PYC001	Pycnodysostosis	50
1474		ULN003	Ulnar-Mammary Syndrome	50
1475	c	RNG023	Ring Chromosome 7	50
1476	c	LPD032	Lipodystrophy, Congenital Generalized, Type 1	50
1477	c	CRG004	Crigler-Najjar Syndrome, Type Ii	50
1478		FCH001	Fuchs' Endothelial Dystrophy	49
1479	P	RDL002	Radioulnar Synostosis	49
1480	c	CNG124	Congenital Rubella	49
1481	c	ALP073	Alport Syndrome, Autosomal Recessive	49
1482	P	D2H002	D-2-Hydroxyglutaric Aciduria 1	49
1483		MYP136	Myopathy, Centronuclear, X-Linked	48
1484		PYL017	Pyle Disease	48
1485		MCR037	Macroglossia	47
1486		MLT134	Multiple Pterygium Syndrome, Lethal Type	47
1487	c	USH037	Usher Syndrome, Type Iia	47
1488	P	PLM085	Pulmonary Hemosiderosis	46
1489	P	8P1002	8p11 Myeloproliferative Syndrome	46
1490	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	46
1491	c	HYP374	Hypothyroidism, Congenital, Nongoitrous, 1	45
1492		CHN054	Chondrodysplasia, Blomstrand Type	45
1493	c	MYL058	Myeloproliferative Syndrome, Transient	45
1494		BLD063	Bile Duct Cysts	45
1495	P	JVN007	Juvenile Absence Epilepsy	45
1496		GCH018	Gaucher Disease, Perinatal Lethal	45
1497	c	BRN108	Branchiootic Syndrome 1	45
1498	P	DYS026	Dysfibrinogenemia	44
1499		SCH076	Schnyder Corneal Dystrophy	44
1500		IRN008	Iron Overload in Africa	43
1501		GLY015	Glycine N-Methyltransferase Deficiency	43
1502		CHR276	Chronic Active Epstein-Barr Virus Infection	43
1503		FRY002	Fryns Syndrome	43
1504		MYP151	Myopathy, Congenital, Bailey-Bloch	42
1505	P	FRN036	Frontonasal Dysplasia 1	42
1506	P	WLL010	Woolly Hair Syndrome	42
1507		HYP801	Hyperferritinemia with or Without Cataract	41
1508		PTC002	Potocki-Lupski Syndrome	41
1509		DHY011	Dihydropyrimidinase Deficiency	41
1510	P	BNG013	Benign Breast Phyllodes Tumor	41
1511		EPD023	Epidermolysis Bullosa Simplex with Mottled Pigmentation	41
1512	c	MYP131	Myopathy, Centronuclear, 2	40
1513		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	40
1514		PSR016	Psoriatic Juvenile Idiopathic Arthritis	40
1515		FNT005	Fontaine Progeroid Syndrome	40
1516		MSS002	Mass Syndrome	39
1517	c	LKD009	Leukodystrophy, Hypomyelinating, 5	39
1518		CLD011	Cold Urticaria	39
1519		TST043	Testicular Seminoma	39
1520		BLR027	Blue Rubber Bleb Nevus	38
1521	c	LSS006	Lissencephaly 2	38
1522	c	RNG004	Ring Chromosome 1	38
1523	c	DYS165	Dysfibrinogenemia, Congenital	38
1524		LYM043	Lymphocytic Hypophysitis	38
1525		PHS009	Phosphoglycerate Kinase Deficiency	37
1526		ALP011	Alpha-Ketoglutarate Dehydrogenase Deficiency	37
1527	P	BRN042	Branchiootic Syndrome	37
1528		DNT045	Dental Anomalies and Short Stature	37
1529	c	RNG020	Ring Chromosome 4	37
1530		CHR659	Chromosome 22q11.2 Duplication Syndrome	36
1531		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	36
1532		DHY016	Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema	36
1533		GST059	Gestational Trophoblastic Tumor	35
1534		VTR010	Vitreoretinochoroidopathy	35
1535		TMP012	Temple Syndrome	35
1536		MNG003	Mungan Syndrome	34
1537	c	BRS007	Breast Malignant Phyllodes Tumor	34
1538	c	HYP355	Hypothyroidism, Congenital, Nongoitrous, 3	34
1539		ADR023	Adrenomyodystrophy	34
1540		MYC019	Mycobacterium Marinum	34
1541		DFN007	Deafness Enamel Hypoplasia Nail Defects	33
1542		SMT020	Smith-Kingsmore Syndrome	33
1543	c	EPL133	Epilepsy, Juvenile Absence 1	33
1544		HYP596	Hypophosphatasia, Childhood	33
1545		OCL039	Oculoectodermal Syndrome	33
1546	P	GLM015	Glomerulopathy with Fibronectin Deposits 2	33
1547	c	RNG008	Ring Chromosome 13	32
1548	P	CNR031	Cone-Rod Dystrophy, X-Linked, 1	32
1549		CNG134	Congenitally Corrected Transposition of the Great Arteries	32
1550		2MT003	2-Methylbutyryl-Coa Dehydrogenase Deficiency	32
1551	c	APL023	Aplasia Cutis Congenita, Nonsyndromic	32
1552		PHC006	Phacomatosis Pigmentovascularis	32
1553	c	RNG018	Ring Chromosome 22	32
1554		SPN348	Spondylometaphyseal Dysplasia, Axial	31
1555		SYS006	Say Syndrome	31
1556		SPN248	Spondyloepimetaphyseal Dysplasia, Sponastrime Type	31
1557	P	PLY148	Polydactyly, Preaxial Ii	31
1558		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	31
1559		RNG003	Ring Dermoid of Cornea	31
1560		PRM004	Primary Amebic Meningoencephalitis	31
1561		PSD046	Pseudotrisomy 13 Syndrome	30
1562		FCH002	Fuchs' Heterochromic Uveitis	30
1563		EXT051	Extracranial Arteriovenous Malformation	30
1564		RBN014	Robin Sequence with Cleft Mandible and Limb Anomalies	30
1565		TBL008	Tibial Hemimelia	30
1566		MSM004	Mesomelia-Synostoses Syndrome	30
1567	c	STC013	Stickler Syndrome, Type Ii	30
1568	c	STS007	Sotos Syndrome 2	30
1569		NST002	Nestor-Guillermo Progeria Syndrome	29
1570		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	29
1571	c	RNG017	Ring Chromosome 21	29
1572		OCL040	Oculomaxillofacial Dysostosis	29
1573	c	RNG022	Ring Chromosome 6	29
1574		CLF046	Cleft Lip/palate with Abnormal Thumbs and Microcephaly	29
1575		ACR099	Acrofacial Dysostosis, Catania Type	28
1576	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	28
1577		CRN235	Corneal Dystrophy, Groenouw Type I	28
1578	P	MRL001	Meralgia Paresthetica	27
1579		ISB001	Isobutyryl-Coa Dehydrogenase Deficiency	27
1580	c	RNG007	Ring Chromosome 12	27
1581		CMP075	Campomelia, Cumming Type	27
1582		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	27
1583	c	RNG005	Ring Chromosome 10	27
1584		HYP782	Hypoglycemia, Leucine-Induced	27
1585		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	27
1586		HYP682	Hypertelorism, Teebi Type	27
1587	c	BRC045	Brachyolmia Type 3	26
1588		HYP648	Hypertension and Brachydactyly Syndrome	26
1589		UNC014	Unicentric Castleman Disease	26
1590	c	FRN033	Frontonasal Dysplasia 2	26
1591		FBR085	Fibrillary Glomerulonephritis	26
1592		CTN027	Cutaneous Mastocytoma	26
1593		SPN358	Spondyloepimetaphyseal Dysplasia, X-Linked	26
1594	c	RNG015	Ring Chromosome 2	26
1595		MGL027	Megalocornea-Intellectual Disability Syndrome	26
1596		TRG006	Trigger Thumb	26
1597		HSH001	Hashimoto-Pritzker Syndrome	25
1598	c	RNG024	Ring Chromosome 8	25
1599		BP1002	Bap1 Tumor Predisposition Syndrome	25
1600	P	ACR020	Acropectorovertebral Dysplasia	25
1601	c	FRN032	Frontonasal Dysplasia 3	25
1602		INS010	Insulin-Resistant Acanthosis Nigricans, Type a	24
1603	c	ERL003	Early Onset Absence Epilepsy	24
1604	P	PNT006	Pentosuria	24
1605	c	CNG514	Congenital Radioulnar Synostosis	24
1606		VTR018	Vitreoretinal Degeneration, Snowflake Type	24
1607		SCH055	Schilbach-Rott Syndrome	24
1608		OSB001	Osebold-Remondini Syndrome	24
1609		GRH005	Graham-Little-Piccardi-Lassueur Syndrome	24
1610		JNT001	Joint Laxity, Familial	24
1611	c	RNG013	Ring Chromosome 18	24
1612		GNT043	Genitopalatocardiac Syndrome	24
1613		SCH024	Schinzel Giedion Syndrome	23
1614	c	RNG010	Ring Chromosome 15	23
1615		PHS028	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	23
1616		LRY027	Laryngeal Papillomatosis	23
1617		ART056	Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay	22
1618		CRT034	Corticosteroid-Sensitive Aseptic Abscesses	22
1619		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	22
1620	c	ACR108	Acrocephalopolysyndactyly Type Iv	22
1621		HYD052	Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia	22
1622	c	EHL065	Ehlers-Danlos Syndrome, Type V	22
1623		NRD039	Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language	22
1624		JMP002	Jumping Frenchmen of Maine	21
1625		CRD023	Cardiomyopathy Cataract Hip Spine Disease	21
1626	c	FML067	Familial Hyperthyroidism Due to Mutations in Tsh Receptor	21
1627		INT231	Intellectual Disability - Athetosis - Microphthalmia	21
1628		MCR052	Microcephaly Microcornea Syndrome Seemanova Type	21
1629		MTR016	Maternal Hyperphenylalaninemia	21
1630		MRN005	Marie Unna Congenital Hypotrichosis	21
1631		CRB161	Cerebellar Ataxia and Ectodermal Dysplasia	21
1632	c	BRC053	Brachyolmia Type 2	21
1633		BRC116	Brachial Amelia, Cleft Lip, and Holoprosencephaly	21
1634		ATX021	Ataxia - Hypogonadism - Choroidal Dystrophy	20
1635	c	HYP762	Hypothyroidism, Congenital, Nongoitrous, 5	20
1636		THY106	Thyroglossal Duct Cyst, Familial	20
1637		SPN117	Spinocerebellar Degeneration and Corneal Dystrophy	20
1638		CHR457	Chromosome 17p13.1 Deletion Syndrome	20
1639	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	20
1640		RDL026	Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	20
1641		THR032	Thoracolaryngopelvic Dysplasia	20
1642		1Q4001	1q44 Microdeletion Syndrome	19
1643	c	STS009	Sotos Syndrome 3	19
1644		RNS005	Rnase T2-Deficient Leukoencephalopathy	19
1645		ULN005	Ulna and Fibula, Hypoplasia of	19
1646		CHN069	Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome	19
1647	c	RNG025	Ring Chromosome 9	19
1648		OMP008	Omphalocele-Cleft Palate Syndrome, Lethal	18
1649		ULN007	Ulna Metaphyseal Dysplasia Syndrome	18
1650		OBS050	Obesity Due to Congenital Leptin Deficiency	18
1651		19P001	19p13.12 Microdeletion Syndrome	18
1652		WHT018	White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	18
1653	c	SX2003	Six2-Related Frontonasal Dysplasia	18
1654		IDP081	Idiopathic Hypertrophic Pachymeningitis	18
1655		BRC095	Brachydactyly, Mononen Type	18
1656		HNH001	Hanhart Syndrome	18
1657	c	ESS007	Essential Pentosuria	18
1658	c	WLL035	Woolly Hair, Autosomal Recessive 3	18
1659		8Q1001	8q12 Microduplication Syndrome	18
1660		HND005	Hand and Foot Deformity with Flat Facies	18
1661	c	EHL090	Ehlers-Danlos Syndrome Type 7b	17
1662		MLL006	Mollaret Meningitis	17
1663	c	WLL018	Woolly Hair, Autosomal Dominant	17
1664		TTR010	Tetramelic Monodactyly	17
1665	c	PLY137	Polydactyly, Preaxial Iii	17
1666	c	RNG012	Ring Chromosome 17	17
1667		SHR089	Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	17
1668		CRY029	Cryptomicrotia-Brachydactyly Syndrome	16
1669		FBR022	Febrile Ulceronecrotic Mucha-Habermann Disease	16
1670		WLN002	Welander Distal Myopathy, Swedish Type	16
1671		XLN197	X-Linked Intellectual Disability-Plagiocephaly Syndrome	16
1672		FRY004	Fryns Hofkens Fabry Syndrome	16
1673	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	15
1674	c	FRM002	Form Agnosia	15
1675		HNT009	Hunter-Mcalpine Syndrome	14
1676		LNR001	Leiner Disease	13
1677	c	ACR046	Acropectorovertebral Dysplasia F Form	13
1678	P	BMN001	Biemond Syndrome	13
1679		DRM036	Dermochondrocorneal Dystrophy of François	12
1680		DST013	Distal Myopathy with Vocal Cord Weakness	12
1681	c	TYP003	Type I Ehlers-Danlos Syndrome	12
1682	c	LCH017	Lichen Planus, Familial	12
1683		MCR073	Microgastria Limb Reduction Defect	11
1684		SPL021	Split Hand Split Foot Nystagmus	11
1685	c	MYL070	Myeloproliferative Disease, Autosomal Recessive	11
1686	c	MRL006	Meralgia Paraesthetica, Familial	10
1687		ARH001	Arhinia Choanal Atresia Microphthalmia	10
1688		TRC048	Trichodental Syndrome	10
1689		BMR003	Beemer Ertbruggen Syndrome	10
1690		MCL020	Macules Hereditary Congenital Hypopigmented and Hyperpigmented	10
1691	c	SCN047	Secondary Pulmonary Hemosiderosis	10
1692		MSL002	Mousa Al Din Al Nassar Syndrome	10
1693		TBB001	Tibia Absent Polydactyly Arachnoid Cyst	10
1694		BRC024	Brachydactyly Elbow Wrist Dysplasia	9
1695		RMS002	Ramos Arroyo Clark Syndrome	9
1696	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	9
1697		DND014	Dandy-Walker Malformation with Sagittal Craniosynostosis and Hydrocephalus	8
1698		GRB001	Grubben De Cock Borghgraef Syndrome	8
1699	c	BCK015	Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11	8
1700		ART113	Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability	8
1701		GLS019	Glass-Chapman-Hockley Syndrome	7
1702		DFN031	Deafness, Epiphyseal Dysplasia, Short Stature	7
1703		ATS241	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons	7
1704		CHR259	Chromosome 6q25 Microdeletion Syndrome	6
1705		VNT005	Ventricular Extrasystoles with Syncopal Episodes - Perodactyly - Robin Sequence	6
1706	c	BCK011	Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion	6
1707	c	RRL001	Rare Lichen Planus	6
1708	P	MYS003	Myasthenia Gravis	74
1709	P	AGM001	Agammaglobulinemia	71
1710	P	TBR001	Tuberous Sclerosis	69
1711		CHR066	Chronic Fatigue Syndrome	67
1712		INT146	Intervertebral Disc Disease	62
1713		PRM236	Primary Biliary Cholangitis	62
1714	P	HYP370	Hypokalemic Periodic Paralysis, Type 1	61
1715		KRT001	Keratoconjunctivitis Sicca	60
1716		PTR032	Peters-Plus Syndrome	60
1717		STT001	Status Epilepticus	60
1718		PYR041	Pyruvate Kinase Deficiency of Red Cells	59
1719		PRG009	Progressive Multifocal Leukoencephalopathy	59
1720		PTN001	Patent Foramen Ovale	58
1721	P	HRD011	Hereditary Spherocytosis	58
1722		HYP730	Hypogonadotropic Hypogonadism	58
1723		MVL001	Mevalonic Aciduria	57
1724	P	ATS308	Autosomal Dominant Cerebellar Ataxia	57
1725	P	ICH004	Ichthyosis	56
1726		DPM007	Dopamine Beta-Hydroxylase Deficiency, Congenital	56
1727		PPL025	Popliteal Pterygium Syndrome	56
1728		APP015	Apparent Mineralocorticoid Excess	55
1729	P	FNC043	Fanconi Anemia, Complementation Group E	54
1730		PTS001	Patau Syndrome	54
1731		ANS023	Anus, Imperforate	54
1732		NNL002	Nonalcoholic Steatohepatitis	53
1733		BRN009	Burning Mouth Syndrome	53
1734	c	ICH047	Ichthyosis, Congenital, Autosomal Recessive 1	53
1735		SPH001	Sapho Syndrome	53
1736		LYS003	Lysinuric Protein Intolerance	53
1737	c	CNT075	Central Precocious Puberty	53
1738	P	PLY017	Polyarteritis Nodosa	52
1739	P	PRC019	Precocious Puberty	52
1740	c	CHR320	Chiari Malformation Type I	52
1741		KRT071	Keratosis, Seborrheic	52
1742		GGR001	Geographic Tongue	52
1743	c	FNC042	Fanconi Anemia, Complementation Group D2	52
1744		RPP001	Rapp-Hodgkin Syndrome	52
1745	P	BND018	Band Heterotopia	51
1746		CRB186	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to	51
1747	P	HMG032	Hemoglobin H Disease	51
1748	P	MYT002	Myotonic Dystrophy	51
1749		SPR004	Supravalvular Aortic Stenosis	51
1750		PLN005	Palindromic Rheumatism	51
1751	P	PNV001	Panuveitis	51
1752		INT303	Intracranial Hypertension, Idiopathic	50
1753	P	BRT029	Brittle Cornea Syndrome 2	50
1754	c	HYP795	Hypothyroidism, Congenital, Nongoitrous, 4	50
1755	P	KRN004	Kernicterus	50
1756		SLD003	Sialadenitis	49
1757		MTY001	Mutyh-Associated Polyposis	48
1758		PRS012	Pars Planitis	48
1759	c	EPL073	Epilepsy, Nocturnal Frontal Lobe, 1	48
1760		ACR012	Aicardi Syndrome	48
1761		TRC040	Tracheoesophageal Fistula	48
1762		MSN001	Mesangial Proliferative Glomerulonephritis	48
1763	c	HNT010	Huntington Disease-Like 1	48
1764		HMM003	Hemimegalencephaly	48
1765		TRP014	Triploidy	47
1766	c	CNG216	Congenital Hydrocephalus	47
1767	c	GMM003	Gamma Heavy Chain Disease	47
1768		STT007	Steatocystoma Multiplex	46
1769	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	46
1770	c	SPH013	Spherocytosis, Type 1	46
1771		FCT005	Factor Xiii Deficiency	45
1772		NCL006	Nicolaides-Baraitser Syndrome	45
1773		DBW001	Dubowitz Syndrome	45
1774		LCH009	Lichen Sclerosus	44
1775	c	ICH049	Ichthyosis, Congenital, Autosomal Recessive 2	44
1776		ANK017	Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate	43
1777		FML330	Familial Lcat Deficiency	43
1778		LRY029	Laryngomalacia	43
1779		HYP706	Hypermobile Ehlers-Danlos Syndrome	42
1780	c	FNC045	Fanconi Anemia, Complementation Group F	41
1781		PDT025	Pediatric Multiple Sclerosis	41
1782	c	HNT004	Huntington Disease-Like 2	41
1783	c	FNC024	Fanconi Anemia, Complementation Group D1	41
1784		DYN002	Doyne Honeycomb Retinal Dystrophy	40
1785	P	ATS011	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	40
1786		BNG018	Benign Paroxysmal Positional Nystagmus	39
1787		MGL012	Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency	39
1788		LCT003	Lactocele	39
1789	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	39
1790		CNT106	Centralopathic Epilepsy	39
1791		TRN030	Transient Erythroblastopenia of Childhood	38
1792		TRC097	Tracheomalacia	38
1793		PLY065	Polyarticular Onset Juvenile Idiopathic Arthritis	38
1794		ORN001	Ornithosis	38
1795		SPN405	Spondyloepiphyseal Dysplasia Tarda, X-Linked	37
1796		VSD002	Vas Deferens, Congenital Bilateral Aplasia of	37
1797	P	SPR013	Spiradenoma	37
1798	P	ANT061	Antenatal Bartter Syndrome	37
1799		SCP009	Scapuloperoneal Myopathy, X-Linked Dominant	37
1800		SPS004	Spastic Quadriplegia	36
1801	c	MYS011	Myasthenia Gravis Congenital	36
1802	P	LTT001	Lattice Corneal Dystrophy	36
1803		ELS002	Elastosis Perforans Serpiginosa	36
1804		LTR009	Lateral Meningocele Syndrome	36
1805	c	PRM038	Primary Agammaglobulinemia	36
1806		LNG040	Langer Mesomelic Dysplasia	35
1807	c	AML061	Amelogenesis Imperfecta, Type Ie	35
1808	c	SPH014	Spherocytosis, Type 2	35
1809		KGM001	Kagami-Ogata Syndrome	35
1810		PLT007	Palatopharyngeal Incompetence	35
1811		BLD129	Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	35
1812	P	HVY001	Heavy Chain Disease	35
1813	c	JVN038	Juvenile Myasthenia Gravis	35
1814		PCH002	Pachygyria	35
1815	P	STR035	Streptococcal Group a Invasive Disease	35
1816		CYT004	Cytomegalic Inclusion Disease	34
1817		SPR034	Superior Limbic Keratoconjunctivitis	34
1818	c	CRN236	Corneal Dystrophy, Lattice Type I	34
1819		CRB070	Cerebral Folate Deficiency	34
1820		PNC059	Punctate Inner Choroidopathy	33
1821		PRT048	Partial Atrioventricular Canal	33
1822	c	BRT052	Bartter Syndrome, Type 1, Antenatal	33
1823		48X003	48,xxyy Syndrome	33
1824	c	HNT011	Huntington Disease-Like 3	33
1825	c	CHR608	Charcot-Marie-Tooth Disease, Axonal, Type 2p	32
1826		LPS020	Lipase Deficiency, Combined	32
1827		STY001	Satoyoshi Syndrome	32
1828		PRP038	Properdin Deficiency, X-Linked	32
1829		NPP006	Nipples, Supernumerary	31
1830	c	CNR039	Cone-Rod Dystrophy, X-Linked, 2	31
1831	c	ATS307	Autosomal Recessive Cerebellar Ataxia	31
1832	c	ICH038	Ichthyosis, Congenital, Autosomal Recessive 3	31
1833		CYT018	Cytochrome P450 2d6 Variant	31
1834	c	ALP087	Alpha-Heavy Chain Disease	30
1835		FXF002	Fox-Fordyce Disease	30
1836	c	HYP606	Hypokalemic Periodic Paralysis, Type 2	30
1837		CMP035	Complete Atrioventricular Canal	30
1838		ASH001	Asherman's Syndrome	30
1839		KLB005	Kleeblattschaedel	30
1840	c	ANM035	Anemia, Hypochromic Microcytic, with Iron Overload 1	30
1841	c	ICH040	Ichthyosis, Congenital, Autosomal Recessive 4a	29
1842	c	ICH042	Ichthyosis, Congenital, Autosomal Recessive 6	29
1843		DGL002	D-Glyceric Aciduria	29
1844	c	EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	29
1845		DFN038	Dfnb1	29
1846		LCT017	Lactate Dehydrogenase B Deficiency	28
1847		HYP728	Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia	28
1848	c	AGM013	Agammaglobulinemia 1, Autosomal Recessive	28
1849	c	MCL059	Macular Dystrophy, Patterned, 1	28
1850	c	MCL070	Macular Dystrophy, Patterned, 3	28
1851		DLF001	Dieulafoy Lesion	28
1852		FRC005	Fructosuria, Essential	28
1853		KR001	Koro	27
1854		RCM003	Recombinant Chromosome 8 Syndrome	27
1855	c	ACQ016	Acquired Pure Red Cell Aplasia	27
1856		STN013	Stenotrophomonas Maltophilia Infection	27
1857	c	HYP248	Hyperprolinemia, Type I	27
1858		GLD003	Goldmann-Favre Syndrome	27
1859		RNG030	Ringed Hair	26
1860		MLG078	Malignant Pineal Area Germ Cell Neoplasm	26
1861		CRD054	Cardiac Arrhythmia, Ankyrin-B-Related	26
1862		PRR031	Pruritic Urticarial Papules and Plaques of Pregnancy	26
1863	P	ATS382	Autosomal Dominant Tubulointerstitial Kidney Disease	26
1864		PTN004	Patent Ductus Venosus	26
1865	c	ICH044	Ichthyosis, Congenital, Autosomal Recessive 8	26
1866		ANK013	Ankyloblepharon Filiforme Adnatum and Cleft Palate	26
1867	P	RCR026	Recurrent Hydatidiform Mole	26
1868	c	ICH050	Ichthyosis, Congenital, Autosomal Recessive 5	26
1869		HGH020	High Molecular Weight Kininogen Deficiency	25
1870	c	HMG004	Hemoglobin D Disease	25
1871		16Q001	16q24.3 Microdeletion Syndrome	25
1872		CYS045	Cystinosis, Adult Nonnephropathic	25
1873	c	BRT028	Brittle Cornea Syndrome 1	25
1874	c	PRC047	Precocious Puberty, Central, 1	25
1875		2Q3001	2q37 Deletion Syndrome	25
1876	c	HMG029	Hemoglobin Se Disease	25
1877	c	ICH045	Ichthyosis, Congenital, Autosomal Recessive 7	25
1878		LGP003	Logopenic Progressive Aphasia	25
1879	c	ANM027	Anemia, Hypochromic Microcytic, with Iron Overload 2	25
1880	c	EPL096	Epilepsy, Nocturnal Frontal Lobe, 5	25
1881		HRL002	Harlequin Syndrome	24
1882	P	ART034	Aortopulmonary Window	24
1883	c	EPL204	Epilepsy, Nocturnal Frontal Lobe, 4	24
1884		CRL001	Cerulean Cataract	24
1885		PLR025	Pleuroparenchymal Fibroelastosis	24
1886		MRC001	Marchiafava Bignami Disease	24
1887	c	ATS327	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2	24
1888		RFS003	Refsum Disease, Infantile Form	24
1889	c	SYS066	Systemic Polyarteritis Nodosa	24
1890		BRT037	Brittle Diabetes	23
1891		CHR167	Chorioretinal Atrophy, Progressive Bifocal	23
1892		PSD043	Pseudopelade of Brocq	23
1893		BNT001	Banti's Syndrome	23
1894	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	23
1895		RNL089	Renal Nutcracker Syndrome	22
1896		PNS014	Penis Agenesis	22
1897	P	HYP252	Hypochromic Microcytic Anemia with Iron Overload	22
1898	c	ICH048	Ichthyosis, Congenital, Autosomal Recessive 9	22
1899		HMC016	Homocystinuria Due to Cbs Deficiency	22
1900	c	ADL084	Adult-Onset Myasthenia Gravis	22
1901		AND005	Androgen Insensitivity Syndrome, Mild	22
1902	c	ICH039	Ichthyosis, Congenital, Autosomal Recessive 10	22
1903	c	TRM024	Tremor, Hereditary Essential, 1	21
1904	c	ICH072	Ichthyosis, Congenital, Autosomal Recessive 14	21
1905	c	LTT008	Lattice Corneal Dystrophy Type Ii	21
1906	c	ANM039	Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	21
1907		CMB042	Combined Oxidative Phosphorylation Deficiency 16	21
1908	c	AGM021	Agammaglobulinemia 2, Autosomal Recessive	21
1909	c	AGM022	Agammaglobulinemia 3, Autosomal Recessive	21
1910		AML051	Aml with Myelodysplasia-Related Features	21
1911	c	MCL071	Macular Dystrophy, Patterned, 2	21
1912	P	CHR200	Chromosome 16 Trisomy	21
1913	P	PTT054	Patterned Macular Dystrophy	21
1914	c	AGM020	Agammaglobulinemia 6, Autosomal Recessive	20
1915	P	CLL020	Collagenopathy Type 2 Alpha 1	20
1916	c	AGM023	Agammaglobulinemia 4, Autosomal Recessive	20
1917		TRN067	Transcobalamin I Deficiency	20
1918		DYS179	Dyssegmental Dysplasia, Rolland-Desbuquois Type	20
1919	P	HRT017	Heart Tumor	20
1920		ACT176	Acute Panmyelosis with Myelofibrosis	20
1921		PSD079	Pseudoangiomatous Stromal Hyperplasia	20
1922		ALP092	Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan	20
1923		NWN001	New-Onset Refractory Status Epilepticus	20
1924	c	RNG021	Ring Chromosome 5	20
1925		HHV001	Hhv-6 Encephalitis	20
1926	c	AML050	Amelogenesis Imperfecta, Type if	20
1927	c	PRC046	Precocious Puberty, Central, 2	20
1928	c	RNG019	Ring Chromosome 3	20
1929		BSL043	Basal Ganglia Calcification, Idiopathic, Childhood-Onset	19
1930	c	ICH070	Ichthyosis, Congenital, Autosomal Recessive 13	19
1931	c	AML018	Amelogenesis Imperfecta, Type Ic	19
1932		ACT239	Acetyl-Coa Acetyltransferase-2 Deficiency	19
1933	c	AGM015	Agammaglobulinemia 7, Autosomal Recessive	19
1934		PRV008	Parvovirus Antenatal Infection	19
1935		RTN123	Retinochoroidal Coloboma	19
1936	c	EPL202	Epilepsy, Nocturnal Frontal Lobe, 2	19
1937	c	RNG006	Ring Chromosome 11	19
1938		PPL053	Papillomatosis, Florid, of Nipple	19
1939		46X011	46, Xy Disorders of Sexual Development	18
1940		MLN018	Moloney Syndrome	18
1941		CCN012	Cocaine Antenatal Exposure	18
1942	P	PYR006	Pyridoxine-Responsive Sideroblastic Anemia	18
1943	c	ICH071	Ichthyosis, Congenital, Autosomal Recessive 12	18
1944	c	AGM024	Agammaglobulinemia 5, Autosomal Dominant	17
1945		SYP004	Syphilitic Aseptic Meningitis	17
1946		MYX011	Myxozoa	17
1947		ANT040	Anton's Syndrome	16
1948		XLN128	X-Linked Intellectual Disability, Abidi Type	16
1949	c	HNT013	Huntington Disease-Like Syndrome	16
1950	c	AGM017	Agammaglobulinemia 8, Autosomal Dominant	15
1951		KFF001	Kifafa Seizure Disorder	15
1952	c	RNG014	Ring Chromosome 19	15
1953	c	RNG011	Ring Chromosome 16	14
1954		BRS103	Bier Spots	14
1955		ADC005	Adcy5-Related Dyskinesia	14
1956		PSY015	Psychosocial Short Stature	14
1957		CHR254	Chromosome 5q Duplication	13
1958		CHR556	Chromosome 3q Duplication	13
1959	c	FND006	Fundus Dystrophy, Pseudoinflammatory, Recessive Form	13
1960	c	INF151	Infectious Panuveitis	13
1961	c	DFN027	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3	12
1962		PCR003	Pauciarticular Onset Juvenile Idiopathic Arthritis	12
1963		PSD044	Pseudopolycythaemia	12
1964	c	PRM222	Primary Polyarteritis Nodosa	12
1965		MD1003	Med13l Haploinsufficiency Syndrome	12
1966	P	DFN023	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17	12
1967		HRY007	Hairy Palms and Soles	11
1968	P	PSD036	Pseudoinflammatory Fundus Dystrophy	11
1969		URT041	Urethral Obstruction Sequence	11
1970		KLM001	Klumpke Paralysis	11
1971	c	ATS379	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4	11
1972	c	SYN073	Syngap1-Related Intellectual Disability	11
1973	c	CNG455	Congenital Aortopulmonary Window	11
1974		WND003	Windblown Hand	11
1975		CHR213	Chromosome 18p Tetrasomy	10
1976	c	RNL048	Renal Tubular Acidosis, Distal, Type 3	10
1977	c	SCN039	Secondary Central Precocious Puberty	10
1978	c	ALP081	Alopecia Intellectual Disability Syndrome 2	10
1979		JNS005	Jones Hersh Yusk Syndrome	10
1980		OST034	Osteogenesis Imperfecta Levin Type	10
1981		TRC060	Trichoscyphodysplasia	10
1982	c	KRN003	Kernicterus Due to Isoimmunization	9
1983		WLM003	Wilms Tumor and Radial Bilateral Aplasia	9
1984		RRN002	Rare Intellectual Disability Without Developmental Anomaly	9
1985		JRG001	Jorgenson Lenz Syndrome	9
1986		ART048	Arthrogryposis Multiplex Congenita Whistling Face	8
1987		THM006	Thumb Deformity, Alopecia, Pigmentation Anomaly	8
1988	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
1989		INT270	Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	8
1990		ZSK001	Zuska's Disease	8
1991	c	SCN055	Secondary Polyarteritis Nodosa	8
1992		BRN058	Brunsting-Perry Syndrome	8
1993		3LP001	3 Alpha Methylcrotonyl-Coa Carboxylase 2 Deficiency	8
1994		TNG005	Tang Hsi Ryu Syndrome	8
1995		FRM006	Formaldehyde Poisoning	7
1996	c	CLL016	Collagenopathy, Types Ii and Xi	7
1997		JVN017	Juvenile Macular Degeneration and Hypotrichosis	7
1998	c	PRM287	Primary Adult Heart Tumor	7
1999	c	SYN013	Syne1-Related Autosomal Recessive Cerebellar Ataxia	7
2000		JDG001	Judge Misch Wright Syndrome	7
2001		MYK001	Myokymia with Neonatal Epilepsy	7
2002		WDM002	Wiedemann Oldigs Oppermann Syndrome	7
2003		SCK006	Sackey Sakati Aur Syndrome	6
2004		SPR040	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas	6
2005	c	CNG534	Congenital Cerebellar Ataxia Due to Rnu12 Mutation	5
2006		10Q003	10q22.3q23 Microdeletion Syndrome	5
2007		OCL028	Oculo Digital Syndrome	5
2008		GTT003	Gait Ataxia with Late Onset Polyneuropathy Syndrome	4
2009		PRT106	Partial Duplication of the Short Arm of Chromosome X	4
2010	P	PRT008	Proteus Syndrome	69
2011		CHD001	Chediak-Higashi Syndrome	68
2012	c	SYS004	Systemic Mastocytosis	67
2013		ADL030	Adult-Onset Still's Disease	67
2014		CYS013	Cystinuria	65
2015		DBT083	Diabetes Mellitus, Permanent Neonatal	62
2016	P	LTR001	Lateral Sclerosis	60
2017	P	STR022	Stargardt Disease	59
2018	c	PCH015	Pachyonychia Congenita 1	57
2019		PNL019	Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities	56
2020	P	LDD007	Liddle Syndrome 1	56
2021		ACR011	Acromesomelic Dysplasia, Maroteaux Type	55
2022		WHM001	Whim Syndrome	54
2023		PNM010	Pneumothorax, Primary Spontaneous	54
2024		CCT002	Cicatricial Pemphigoid	53
2025	P	SCH018	Schizencephaly	53
2026	c	STR084	Stargardt Disease 1	52
2027		ALP097	Alopecia Universalis Congenita	52
2028		DSM007	Desmoplastic Small Round Cell Tumor	50
2029		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	49
2030		PRN038	Prune Belly Syndrome	49
2031	P	SCL048	Sclerosteosis	49
2032		SYD002	Sydenham Chorea	46
2033		LCK001	Locked-in Syndrome	46
2034	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	46
2035		ICH020	Ichthyosis Prematurity Syndrome	45
2036		ADP001	Adiposis Dolorosa	45
2037	c	ARR018	Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	43
2038	c	ARR045	Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	43
2039	P	MSC022	Mosaic Variegated Aneuploidy Syndrome	43
2040	c	SCL042	Sclerosteosis 2	43
2041	c	SPN330	Spondylocostal Dysostosis 5	41
2042		SPR126	Superior Semicircular Canal Dehiscence	41
2043	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	41
2044		OST167	Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis	41
2045		DYG001	Dyggve-Melchior-Clausen Disease	40
2046		AND001	Anodontia	39
2047	c	ANT086	Anterior Segment Dysgenesis 2	39
2048		MLY001	Molybdenum Cofactor Deficiency	39
2049	c	ARR023	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	38
2050	c	ARR050	Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	38
2051	c	PCH012	Pachyonychia Congenita 2	38
2052		ADN022	Adenylosuccinase Deficiency	38
2053		DCR008	Dicarboxylic Aminoaciduria	38
2054	c	ARR046	Arrhythmogenic Right Ventricular Dysplasia, Familial, 2	37
2055		PRL047	Prolonged Electroretinal Response Suppression	36
2056	c	SCL045	Sclerosteosis 1	35
2057	c	PCH010	Pachyonychia Congenita 3	35
2058		TMP011	Temple-Baraitser Syndrome	34
2059		ANR010	Aneurysm of Sinus of Valsalva	33
2060	c	ARR048	Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	33
2061		MRC004	Murcs Association	32
2062		ACT032	Acute Hemorrhagic Leukoencephalitis	31
2063		MCP039	Mucoepithelial Dysplasia, Hereditary	31
2064		24D001	2,4-Dienoyl-Coa Reductase Deficiency	31
2065		TRC118	Trichodentoosseous Syndrome	31
2066		MCR025	Microhydranencephaly	30
2067		PST044	Postorgasmic Illness Syndrome	27
2068	c	PCH011	Pachyonychia Congenita 4	27
2069	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	26
2070	c	OMD002	Omodysplasia 2	26
2071	c	STR040	Stargardt Disease 3	25
2072	P	ARR027	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	24
2073		SNC001	Sunct Headache	23
2074		LPS019	Lupus Erythematosus Tumidus	23
2075	c	LDD008	Liddle Syndrome 2	23
2076		ABR001	Aberrant Subclavian Artery	22
2077	c	ARR047	Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	21
2078		INF043	Infantile Apnea	21
2079		ODN020	Odontoma-Dysphagia Syndrome	21
2080	c	ARR049	Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	21
2081	c	ARR041	Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	21
2082	c	ARR028	Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	21
2083		ANN010	Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges	20
2084		SVR009	Seaver Cassidy Syndrome	20
2085	c	ARR024	Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	20
2086	c	STR054	Stargardt Disease 4	19
2087	c	ACQ050	Acquired Schizencephaly	19
2088		UPN001	Upington Disease	18
2089		BBB001	Bobble-Head Doll Syndrome	18
2090	c	MSC139	Mosaic Variegated Aneuploidy Syndrome 3	16
2091		VLN001	Valinemia	16
2092		DHL001	Dahlberg Borer Newcomer Syndrome	9
2093	c	LDD009	Liddle Syndrome 3	9
2094	c	TBR025	Tuberous Sclerosis 1	72
2095	P	TTR001	Tetralogy of Fallot	71
2096		WRN001	Werner Syndrome	70
2097	P	ALC004	Alcohol Abuse	69
2098		MXD005	Mixed Connective Tissue Disease	65
2099	P	HYP098	Hypereosinophilic Syndrome	65
2100	P	MYP004	Myopathy	63
2101		LNN001	Lennox-Gastaut Syndrome	60
2102		ART001	Arterial Tortuosity Syndrome	60
2103		OCL020	Ocular Cicatricial Pemphigoid	59
2104		ELL001	Ellis-Van Creveld Syndrome	59
2105		SMT008	Smith-Magenis Syndrome	58
2106	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	58
2107	P	WRD001	Waardenburg's Syndrome	58
2108	c	WRD030	Waardenburg Syndrome, Type 1	56
2109		RLP001	Relapsing Polychondritis	56
2110		CTS003	Coats Disease	55
2111	P	HYP024	Hypoparathyroidism	54
2112		EBS001	Ebstein Anomaly	54
2113	c	MYP132	Myopathy, Congenital	54
2114		PSD007	Pseudomyxoma Peritonei	53
2115		HLC001	Holocarboxylase Synthetase Deficiency	53
2116		ONC002	Onchocerciasis	53
2117	P	LRS001	Larsen Syndrome	53
2118		ESN015	Eosinophilic Fasciitis	52
2119		ARM001	Aromatase Deficiency	52
2120		ELS001	Eales Disease	52
2121		OCC006	Occipital Horn Syndrome	52
2122		GLC036	Glucagonoma	51
2123		BWN001	Bowen-Conradi Syndrome	51
2124		PRP007	Priapism	51
2125		LST001	Listeriosis	50
2126		PNC056	Pineocytoma	50
2127		NLS001	Nelson Syndrome	50
2128		SYS034	Systemic Onset Juvenile Idiopathic Arthritis	49
2129		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	49
2130		GLD006	Goldberg-Shprintzen Syndrome	49
2131		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	49
2132		PRG033	Progressive Non-Fluent Aphasia	49
2133		EVN001	Evans' Syndrome	48
2134	P	HRN001	Horner's Syndrome	48
2135		ANC001	Ancylostomiasis	48
2136	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	48
2137		PPL021	Papilledema	48
2138	P	MTH007	Methemoglobinemia	48
2139	P	ALP074	Alport Syndrome, Autosomal Dominant	47
2140	P	MRD002	Marden-Walker Syndrome	47
2141	c	PSR021	Psoriasis 14, Pustular	47
2142		PTT041	Pituitary Stalk Interruption Syndrome	47
2143	P	HRD018	Hair Disease	46
2144		MYP100	Myopathy, X-Linked, with Excessive Autophagy	46
2145		SPN411	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	46
2146	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	46
2147		CRP032	Corpus Callosum, Agenesis of	45
2148		BRB001	Beriberi	45
2149		CRT046	Corticosteroid-Binding Globulin Deficiency	45
2150	P	CHN044	Chondrodysplasia Punctata Syndrome	44
2151		CTS005	Catastrophic Antiphospholipid Syndrome	44
2152	c	BRC081	Brachydactyly, Type C	44
2153		ACT029	Acute Interstitial Pneumonia	44
2154		BTT001	Bietti Crystalline Corneoretinal Dystrophy	43
2155	c	USH038	Usher Syndrome, Type Iiia	43
2156		BRD001	Brody Myopathy	43
2157	c	LTH008	Lethal Congenital Contracture Syndrome 2	43
2158		ARC007	Arachnoid Cysts	42
2159		PGT003	Paget Disease, Extramammary	42
2160	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	42
2161		JLL001	Jalili Syndrome	41
2162		HYP236	Hyperbilirubinemia, Rotor Type	41
2163		HRT040	Hirata Disease	41
2164	P	CNG024	Congenital Nystagmus	40
2165	P	HYP605	Hyperphenylalaninemia, Bh4-Deficient, B	40
2166		ACT209	Acatalasemia	40
2167		CRY008	Cryopyrin-Associated Periodic Syndrome	40
2168		RHY001	Rhyns Syndrome	39
2169	P	SYN012	Synpolydactyly	38
2170		FRN039	Frank-Ter Haar Syndrome	38
2171	c	SPR119	Spermatogenic Failure, X-Linked, 1	38
2172		RTC001	Reticulohistiocytic Granuloma	38
2173		VBR001	Vibratory Urticaria	38
2174		KFM001	Kaufman Oculocerebrofacial Syndrome	37
2175		EMN001	Emanuel Syndrome	37
2176	c	LTH007	Lethal Congenital Contracture Syndrome 1	37
2177	c	GRS012	Griscelli Syndrome, Type 3	37
2178	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	37
2179		WYR002	Weyers Acrofacial Dysostosis	37
2180		EMP011	Emphysema, Congenital Lobar	36
2181		HSH004	Hashimoto Encephalopathy	36
2182		SSC001	Susac Syndrome	36
2183		FMR004	Fumarase Deficiency	35
2184	c	PRM149	Primary Hypereosinophilic Syndrome	35
2185		CRR017	Curry-Jones Syndrome	35
2186		LTH002	Lathosterolosis	35
2187		BNB002	Bainbridge-Ropers Syndrome	35
2188		49X002	49,xxxxy Syndrome	35
2189		LMB008	Limb-Mammary Syndrome	34
2190		CHR582	Chromosome 3q29 Duplication Syndrome	33
2191		IDP031	Idiopathic Hypersomnia	33
2192	c	MLG036	Malignant Spiradenoma	33
2193	P	ACT232	Acute Necrotizing Encephalopathy	33
2194	c	INT274	Intermediate Congenital Nemaline Myopathy	32
2195		MYL074	Myelodysplastic Syndrome with Excess Blasts	32
2196	P	SPR093	Spermatogenic Failure, Y-Linked, 2	32
2197		PLY117	Polymicrogyria, Bilateral Frontoparietal	31
2198	c	ACQ047	Acquired Methemoglobinemia	31
2199		ICH073	Ichthyosis Hystrix, Curth-Macklin Type	31
2200		OCL063	Oculopharyngodistal Myopathy	31
2201		HYP059	Hypertelorism, Microtia, Facial Clefting Syndrome	31
2202	c	ATM068	Autoimmune Hypoparathyroidism	30
2203	P	PLT008	Pili Torti	30
2204		MTP028	Metaphyseal Dysplasia, Spahr Type	30
2205	c	HRD146	Hereditary Methemoglobinemia	29
2206	c	ATL012	Atelosteogenesis, Type Iii	29
2207		MCR039	Macrophagic Myofasciitis	29
2208	c	LKD018	Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	29
2209		CSN001	Cousin Syndrome	28
2210	P	RTN034	Retinal Cone Dystrophy 3a	28
2211	c	SYN084	Synpolydactyly 1	28
2212	c	RTN035	Retinal Cone Dystrophy 3b	28
2213		ACR102	Acrorenal-Mandibular Syndrome	28
2214	P	SPN202	Spinocerebellar Ataxia, X-Linked 1	28
2215		MCR257	Microcephaly, Amish Type	28
2216		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	27
2217		ANG066	Angel-Shaped Phalangoepiphyseal Dysplasia	27
2218		VTM024	Vitamin B12-Responsive Methylmalonic Acidemia	27
2219		HYD030	Hydroxykynureninuria	27
2220	c	CNG223	Congenital Methemoglobinemia	27
2221	c	ATS270	Autosomal Dominant Café Au Lait Spots	27
2222		PLL004	Pallister W Syndrome	27
2223		MSC016	Mosaic Trisomy 14	27
2224		5XP001	5-Oxoprolinase Deficiency	26
2225		FTL064	Fetal Methylmercury Syndrome	26
2226		GLT011	Glutamine Deficiency, Congenital	26
2227		ZTT001	Zttk Syndrome	26
2228		ACR037	Acromegaloid Facial Appearance Syndrome	26
2229	P	KRT014	Keratosis Follicularis Spinulosa Decalvans	26
2230		CDG001	Cdags Syndrome	25
2231		CHR391	Chromosome 15q24 Deletion Syndrome	25
2232	c	NYS017	Nystagmus 1, Congenital, X-Linked	25
2233		GRR002	Gurrieri Syndrome	24
2234		OCL030	Oculoauriculofrontonasal Syndrome	24
2235		AMN014	Aminopterin Syndrome Sine Aminopterin	24
2236		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	24
2237		MCR274	Microcephalic Primordial Dwarfism, Montreal Type	24
2238		NTR036	Neutropenia, Severe Congenital, X-Linked	24
2239	c	ALC016	Alcohol Sensitivity, Acute	23
2240	c	PLT022	Pili Torti, Early-Onset	23
2241		HTR005	Heterochromia Iridis	23
2242		PLY116	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis	23
2243		BRN123	Branchial Arch Syndrome, X-Linked	23
2244	c	SPN364	Spinocerebellar Ataxia, X-Linked 3	23
2245	P	XLN065	X-Linked Infantile Nystagmus	22
2246		MNR004	Mounier-Kuhn Syndrome	22
2247		NRF010	Neurofaciodigitorenal Syndrome	22
2248	c	HRN024	Horner Syndrome, Congenital	22
2249		NNN007	Non-Involuting Congenital Hemangioma	22
2250		ACK001	Ackerman Syndrome	22
2251		PRX093	Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias	22
2252		OST151	Osteoporosis and Oculocutaneous Hypopigmentation Syndrome	22
2253		SLC003	Selective Igm Deficiency Disease	22
2254		RHZ008	Rhizomelic Syndrome	21
2255		CLB011	Coloboma of Macula with Type B Brachydactyly	21
2256		BTN005	Biotin-Thiamine-Responsive Basal Ganglia Disease	21
2257		EPL011	Epilepsy, Benign Occipital	21
2258		SPN133	Spondyloepimetaphyseal Dysplasia with Multiple Dislocations	21
2259	c	SYN088	Synpolydactyly 2	21
2260		EHL066	Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality	21
2261		KYR001	Kyrle Disease	21
2262	c	KRT073	Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	20
2263		SMM003	Summitt Syndrome	20
2264		KNS006	Kniest-Like Dysplasia, Lethal	20
2265		CHR368	Chromosome Xp11.23-P11.22 Duplication Syndrome	20
2266		MCR303	Macrosomia with Microphthalmia, Lethal	20
2267		MSM019	Mesomelic Dysplasia, Savarirayan Type	20
2268		ERM001	Ermine Phenotype	20
2269		RTH002	Rutherfurd Syndrome	20
2270		ALP067	Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	20
2271		MCD004	Macdermot-Winter Syndrome	20
2272		INT232	Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	20
2273		CRN083	Craniofacial Dyssynostosis	20
2274		BSL042	Basilar Impression, Primary	20
2275		HYD050	Hydrocephalus, Endocardial Fibroelastosis, and Cataracts	19
2276	c	SPN363	Spinocerebellar Ataxia, X-Linked 4	19
2277		PYT001	Pythiosis	19
2278	c	BLL009	Bullous Dystrophy Hereditary Macular Type	19
2279	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	19
2280		SHR023	Short Stature Syndrome, Brussels Type	19
2281		BLP011	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	19
2282		THK001	Thakker-Donnai Syndrome	19
2283		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	18
2284		KZL006	Kozlowski-Krajewska Syndrome	18
2285	c	NYS003	Nystagmus 2, Congenital, Autosomal Dominant	18
2286		ADN028	Adenosarcoma of the Uterus	18
2287		FBL014	Fibular Hemimelia	18
2288		HRT033	Heart-Hand Syndrome, Spanish Type	18
2289		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	18
2290		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	18
2291	c	SPR091	Spermatogenic Failure, X-Linked, 2	18
2292		LBN003	Lubinsky Syndrome	18
2293	c	GNR020	Gne-Related Myopathy	18
2294		RTN037	Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma	18
2295	c	PSR022	Psoriasis 15, Pustular	18
2296		BRC089	Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	18
2297	c	NYS012	Nystagmus 5, Congenital, X-Linked	17
2298		CNG529	Congenital Femoral Deficiency	17
2299		ULR001	Ulerythema Ophryogenesis	17
2300		OST047	Osteopenia and Sparse Hair	17
2301		IMM137	Immunodeficiency with Thymoma	17
2302	c	HRN019	Hair-an Syndrome	17
2303		BKS002	Book Syndrome	17
2304		TND002	Tendons, Extensor, of Fingers, Anomalous Insertion of	17
2305		ARC009	Auriculoosteodysplasia	17
2306		RDL029	Radial Ray Hypoplasia with Choanal Atresia	17
2307	c	NYS005	Nystagmus 4, Congenital, Autosomal Dominant	17
2308		PFF010	Pfeiffer-Palm-Teller Syndrome	17
2309	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	17
2310	P	FML048	Familial Avascular Necrosis of the Femoral Head	17
2311		OST058	Osteopoikilosis and Dacryocystitis	17
2312	c	CNG121	Congenital Pulmonary Alveolar Proteinosis	17
2313		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	17
2314	c	NYS013	Nystagmus 6, Congenital, X-Linked	17
2315		FTL018	Fetal Indomethacin Syndrome	16
2316		PLY127	Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	16
2317		16P004	16p13.11 Microduplication Syndrome	16
2318		SPN120	Spondylocamptodactyly	16
2319		DFN307	Deafness-Oligodontia Syndrome	16
2320		ALB022	Albinism-Microcephaly-Digital Anomalies Syndrome	16
2321		20P001	20p12.3 Microdeletion Syndrome	16
2322	c	ACT229	Acute Necrotizing Encephalopathy Type 1	16
2323		ZP7002	Zap-70 Deficiency	16
2324		PRS119	Persistent Genital Arousal Disorder	15
2325		ULN019	Ulna Hypoplasia-Intellectual Disability Syndrome	15
2326	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	15
2327	P	PRK067	Porokeratosis 8, Disseminated Superficial Actinic Type	15
2328		MNT028	Mental Retardation Smith Fineman Myers Type	15
2329		BMF002	Bamforth Syndrome	15
2330	c	CNG336	Congenital Analbuminemia	15
2331		FMR007	Femur Bifid with Monodactylous Ectrodactyly	15
2332	c	SPR092	Spermatogenic Failure, Y-Linked, 1	15
2333		ACR027	Acrodysplasia Scoliosis	14
2334	c	APL027	Aplasia Cutis Congenita of Limbs, Autosomal Recessive	14
2335		MGL007	Megalocytic Interstitial Nephritis	14
2336		TLN013	Telangiectasia Macularis Eruptive Perstans	14
2337	c	SYN040	Synpolydactyly 3	14
2338		HRD179	Hair Defect-Photosensitivity-Intellectual Disability Syndrome	14
2339	c	NYS016	Nystagmus 7, Congenital, Autosomal Dominant	14
2340		BRT013	Baritosis	14
2341	c	FML258	Familial Acute Necrotizing Encephalopathy	13
2342	P	STM009	Stomatocytosis I	13
2343		DYS053	Dystelephalangy	13
2344	c	PRK095	Porokeratosis 4, Disseminated Superficial Actinic Type	13
2345		HYP668	Hypospadias-Intellectual Disability, Goldblatt Type Syndrome	13
2346		GZR001	Guizar Vasquez Sanchez Manzano Syndrome	13
2347	c	PRK097	Porokeratosis 5, Disseminated Superficial Actinic Type	13
2348		SPN083	Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome	13
2349	c	FRM005	Frmd7-Related Infantile Nystagmus	13
2350	P	BLL013	Bullous Dystrophy, Macular Type	12
2351	c	MYP129	Myopathy Due to Malate-Aspartate Shuttle Defect	12
2352		HYD056	Hydrocephalus-Cleft Palate-Joint Contractures Syndrome	12
2353		DNT019	Daentl Towsend Siegel Syndrome	12
2354		ARR002	Arrhinia	12
2355		INT090	Intellectual Deficit Buenos-Aires Type	11
2356		VLJ001	Viljoen Kallis Voges Syndrome	11
2357		HND010	Handigodu Disease	11
2358		ALG003	Al Gazali Aziz Salem Syndrome	11
2359		TTR006	Tetraamelia Multiple Malformations X-Linked	10
2360		MCR035	Macrodactyly of the Hand	10
2361		HYP145	Hyperbetaalaninemia	10
2362		WLL007	Wells-Jankovic Syndrome	10
2363	c	NYS019	Nystagmus, Congenital, Autosomal Recessive	10
2364		VRL015	Verloes Van Maldergem Marneffe Syndrome	10
2365	c	MTH084	Methemoglobinemia, Alpha Type	10
2366		STK001	Saito Kuba Tsuruta Syndrome	10
2367		VRL016	Verloove Vanhorick Brubakk Syndrome	10
2368		AYZ001	Ayazi Syndrome	9
2369		TLF001	Telfer Sugar Jaeger Syndrome	9
2370		GMF001	Game Friedman Paradice Syndrome	9
2371		NTT001	Not Otherwise Specified 3-Mga-Uria Type	9
2372		CHD003	Chudley Rozdilsky Syndrome	9
2373	c	MTH083	Methemoglobinemia, Beta Type	9
2374		MCH009	Michels Caskey Syndrome	9
2375		SYF001	Say-Field-Coldwell Syndrome	9
2376		SYM004	Say Meyer Syndrome	9
2377		PRG024	Progeroid Syndrome Petty Type	9
2378		BTT012	Battaglia-Neri Syndrome	8
2379		BRK006	Bork Stender Schmidt Syndrome	8
2380		ODN003	O Donnell Pappas Syndrome	8
2381		MNV001	Manouvrier Syndrome	8
2382	c	TTR026	Tetralogy of Fallot Syndrome, Autosomal Recessive	8
2383		TCK005	Tucker Syndrome	8
2384		RZN001	Rozin Hertz Goodman Syndrome	8
2385	P	APL009	Aplasia Cutis Congenita of Limbs Recessive	8
2386		FGN001	Feigenbaum Bergeron Richardson Syndrome	8
2387		SLC010	Salcedo Syndrome	8
2388		SPL017	Splenogonadal Fusion Limb Defects Micrognatia	8
2389		CHT002	Chitayat Meunier Hodgkinson Syndrome	8
2390		FTZ004	Fitzsimmons Walson Mellor Syndrome	8
2391		HMN015	Hamanishi Ueba Tsuji Syndrome	8
2392		MCR294	Macrocephaly-Short Stature-Paraplegia Syndrome	8
2393		ALG005	Al Gazali Sabrinathan Nair Syndrome	7
2394		MSM005	Mesomelic Dwarfism Cleft Palate Camptodactyly	7
2395		YRF001	Yorifuji Okuno Syndrome	7
2396	c	SCN042	Secondary Hypereosinophilic Syndrome	7
2397		MST010	Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia	7
2398		HRR001	Harrod Doman Keele Syndrome	7
2399		MGL005	Megalocornea - Spherophakia - Secondary Glaucoma	7
2400		JHN005	Johnston Aarons Schelley Syndrome	7
2401		ARC019	Arachnodactyly - Intellectual Disability - Dysmorphism	7
2402		PLL007	Pillay Syndrome	6
2403		SYB001	Say Barber Miller Syndrome	6
2404		INT089	Intellectual Deficit - Short Stature - Hypertelorism	6
2405		JHN003	Johnson Munson Syndrome	6
2406		WRM002	Warman Mulliken Hayward Syndrome	6
2407		DSH001	Daish Hardman Lamont Syndrome	6
2408		SVR061	Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	6
2409		ICH021	Ichthyosis Tapered Fingers Midline Groove Up	6
2410		CYS023	Cystic Medial Necrosis of Aorta	5
2411	c	SCN062	Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion	5
2412		MLG089	Malignant Hyperthermia Arthrogryposis Torticollis	5
2413	P	MYC084	Mycobacterium Tuberculosis 1	74
2414		DWN001	Down Syndrome	72
2415	c	ART115	Aortic Valve Disease 1	71
2416		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	70
2417		PRT037	Pertussis	68
2418		KRT019	Keratitis, Hereditary	67
2419		SZR001	Sezary's Disease	67
2420		TYP007	Typhoid Fever	67
2421	c	HPT073	Hepatitis C Virus	67
2422	P	CNG001	Congenital Myasthenic Syndrome	67
2423	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	66
2424	c	PLY168	Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease	66
2425	c	ART101	Aortic Valve Disease 2	65
2426	P	CRN037	Craniosynostosis	64
2427	c	CHL119	Cholangitis, Primary Sclerosing	63
2428	P	BRG001	Brugada Syndrome	62
2429		RHM001	Rheumatic Fever	62
2430		CMP010	Complex Regional Pain Syndrome	62
2431	P	PLY170	Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease	62
2432	c	ATM011	Autoimmune Hepatitis	61
2433		BDD001	Budd-Chiari Syndrome	61
2434		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	61
2435		MNK003	Muenke Syndrome	61
2436		HPT019	Hepatic Encephalopathy	60
2437	P	MTR004	Maturity-Onset Diabetes of the Young	60
2438		PLM031	Poliomyelitis	59
2439	c	RHB024	Rhabdomyosarcoma 2	59
2440	P	MYP006	Myopia	58
2441	P	OCL002	Oculocutaneous Albinism	58
2442		CHL067	Cholecystitis	58
2443		PBL005	Piebald Trait	58
2444	P	RHB003	Rhabdomyosarcoma	57
2445	c	AMY009	Amyloidosis Aa	56
2446	P	VNB005	Van Buchem Disease	56
2447		BRN045	Brunner Syndrome	55
2448		MNR012	Meniere Disease	55
2449		TBR011	Tuberculous Meningitis	55
2450		PRR016	Pierre Robin Syndrome	55
2451		ANT039	Antisynthetase Syndrome	55
2452		BRL010	Buruli Ulcer	54
2453	P	RST001	Restless Legs Syndrome	54
2454	P	SCL009	Sclerosing Cholangitis	54
2455	c	PLY172	Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease	54
2456	P	ESN008	Eosinophilic Pneumonia	54
2457	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	53
2458	P	HML001	Hemolytic-Uremic Syndrome	53
2459	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	53
2460	P	OLV001	Olivopontocerebellar Atrophy	53
2461		PRS034	Parasitic Helminthiasis Infectious Disease	53
2462	c	CHR283	Chronic Inflammatory Demyelinating Polyneuropathy	52
2463		CYC008	Cyclic Vomiting Syndrome	52
2464		ATR002	Atransferrinemia	52
2465		JCK001	Jackson-Weiss Syndrome	52
2466		CFF003	Caffey Disease	52
2467		BBS001	Babesiosis	51
2468		CMR002	Coumarin Resistance	51
2469		TRC012	Trichuriasis	51
2470		CHR101	Char Syndrome	51
2471	P	ISL078	Isolated Ectopia Lentis	51
2472	c	BRC109	Brachydactyly, Type E1	51
2473	P	FNC004	Fanconi Syndrome	50
2474		MLL018	Miller-Dieker Lissencephaly Syndrome	50
2475	c	DMN023	Diamond-Blackfan Anemia 1	50
2476		3MC003	3mc Syndrome	49
2477	P	KRT007	Keratoconus	49
2478		IRK001	Irak4 Deficiency	49
2479		CTS002	Cat-Scratch Disease	49
2480	P	AFB001	Afibrinogenemia	49
2481	c	HYP739	Hyperlipoproteinemia, Type Iv	49
2482	c	HRD039	Hereditary Amyloidosis	49
2483		STS002	Situs Inversus	49
2484		FCL022	Focal Dystonia	48
2485		ACR041	Acromelic Frontonasal Dysostosis	48
2486		CMP034	Complete Androgen Insensitivity Syndrome	48
2487		MRB001	Marburg Hemorrhagic Fever	48
2488	P	TRT019	Torticollis	48
2489	P	ART018	Aortic Valve Insufficiency	47
2490	c	CHR095	Chronic Progressive External Ophthalmoplegia	47
2491		FRC001	Fructose-1,6-Bisphosphatase Deficiency	47
2492		CHR222	Chromosome 1p36 Deletion Syndrome	47
2493		CPL007	Capillary Malformation-Arteriovenous Malformation	46
2494	P	DMY001	Demyelinating Polyneuropathy	46
2495		ALN001	Aland Island Eye Disease	46
2496		SDD008	Sudden Sensorineural Hearing Loss	46
2497		CRB150	Cerebral Creatine Deficiency Syndrome 2	46
2498		IDP064	Idiopathic Neutropenia	46
2499	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	46
2500		TST018	Testicular Yolk Sac Tumor	46
2501		CNT060	Central Serous Chorioretinopathy	45
2502		MYC013	Mycobacterium Abscessus	45
2503	c	MYS051	Myasthenic Syndrome, Congenital, 5	45
2504		LCR004	La Crosse Encephalitis	45
2505		DFF037	Diffuse Intrinsic Pontine Glioma	45
2506		NRW001	Norwegian Scabies	45
2507		CHR211	Chromosome 18p Deletion Syndrome	45
2508		VLV042	Vulvar Vestibulitis Syndrome	45
2509	c	MYP125	Myopathy, Distal, 1	44
2510		OPS001	Opisthorchiasis	44
2511		ASB001	Asbestosis	44
2512		MYC017	Mycobacterium Kansasii	44
2513	c	ACQ042	Acquired Hemophilia a	44
2514		MLT152	Multiple Self-Healing Squamous Epithelioma	43
2515	c	BRT050	Bartter Syndrome, Type 2, Antenatal	43
2516	c	LRS002	Larsen-Like Syndrome	43
2517	c	MYS078	Myasthenic Syndrome, Congenital, 14	43
2518		ZKV001	Zika Virus Infection	42
2519		EHR002	Ehrlichiosis	42
2520	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	42
2521	P	ANX007	Anauxetic Dysplasia 1	42
2522	c	HYP575	Hypotrichosis 7	42
2523		CRR002	Currarino Syndrome	41
2524	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	41
2525		CNZ001	Coenzyme Q10 Deficiency Disease	41
2526	c	CRN278	Craniosynostosis 1	41
2527	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	41
2528		TRN044	Transposition of the Great Arteries	41
2529	c	BRG005	Brugada Syndrome 1	41
2530	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	40
2531	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	40
2532		SPT007	Spitz Nevus	40
2533		SPS005	Spastic Hemiplegia	39
2534	c	MYC068	Myoclonic Epilepsy of Infancy	39
2535		PMP002	Pemphigoid Gestationis	39
2536		PYR016	Pyridoxine Deficiency	39
2537	c	FNC059	Fanconi-Like Syndrome	39
2538		RTN072	Retinohepatoendocrinologic Syndrome	39
2539		CPM001	Cap Myopathy	39
2540	c	MYS052	Myasthenic Syndrome, Congenital, 10	39
2541		47X003	47, Xxy	38
2542	P	SMT022	Smith-Mccort Dysplasia 1	38
2543		APL017	Apolipoprotein C-Ii Deficiency	38
2544	c	GM1005	Gm1-Gangliosidosis, Type Ii	37
2545		PTT002	Potter's Syndrome	37
2546		CRT020	Cortisone Reductase Deficiency	37
2547		WST002	Western Equine Encephalitis	37
2548	c	HYP559	Hypotrichosis 8	37
2549		KSH001	Keshan Disease	37
2550	c	HYP581	Hypotrichosis 6	37
2551		CTN013	Cutaneous Anthrax	37
2552		HMN002	Human Granulocytic Anaplasmosis	37
2553	c	PLY171	Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease	36
2554		MYC014	Mycobacterium Chelonae	36
2555		MYC015	Mycobacterium Fortuitum	36
2556		IMM044	Immunoglobulin G Deficiency	36
2557		PLY062	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy	36
2558		INF046	Infantile Digital Fibromatosis	36
2559		LSS001	Loiasis	36
2560		INF129	Infantile Cerebellar-Retinal Degeneration	35
2561		MTT002	Metatropic Dysplasia	35
2562		JBR005	Joubert Syndrome with Ocular Anomalies	35
2563		HTL001	Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis	35
2564		PRP005	Parapsoriasis	35
2565		TRP004	Tropical Sprue	35
2566		MSC020	Mosaic Trisomy 8	35
2567	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	35
2568	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	34
2569		PRN029	Parainfluenza Virus Type 3	34
2570		PST036	Posterior Column Ataxia with Retinitis Pigmentosa	34
2571	c	MYS075	Myasthenic Syndrome, Congenital, 13	34
2572		CLC010	Calcifying Epithelial Odontogenic Tumor	34
2573	c	BNG079	Benign Adult Familial Myoclonic Epilepsy	33
2574		TRD003	Taurodontism	33
2575		CYC002	Cyclosporiasis	33
2576		MCL018	Macular Dystrophy, Concentric Annular	33
2577		ANS003	Anisakiasis	33
2578		SPN221	Spina Bifida Occulta	33
2579		NNS011	Nonseminomatous Germ Cell Tumor	33
2580		GNT019	Giant Cell Myocarditis	33
2581	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	33
2582	c	BRG007	Brugada Syndrome 5	32
2583		MNC011	Minicore Myopathy with External Ophthalmoplegia	32
2584	c	HYP515	Hypotrichosis 3	32
2585		PRD012	Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis	32
2586	c	DMN021	Diamond-Blackfan Anemia 6	32
2587	c	KNN009	Kenny-Caffey Syndrome, Type 1	32
2588		TBL025	Tubulointerstitial Nephritis with Uveitis	32
2589	c	MYC083	Myoclonic Epilepsy, Familial Infantile	31
2590		MTH056	Methylmalonic Aciduria and Homocystinuria, Cblf Type	31
2591		MSC021	Mosaic Trisomy 9	31
2592	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	31
2593		SPR038	Supranuclear Ocular Palsy	31
2594		GLN002	Glanders	30
2595		TMT002	Temtamy Preaxial Brachydactyly Syndrome	30
2596		UND007	Undifferentiated Connective Tissue Disease	30
2597		KYS001	Kyasanur Forest Disease	30
2598	c	BRG006	Brugada Syndrome 2	30
2599		HYP364	Hyperostosis Frontalis Interna	30
2600	c	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	30
2601	c	SYN061	Syndactyly, Type Iv	29
2602		MYC018	Mycobacterium Malmoense	29
2603	c	MLT068	Multiple Mitochondrial Dysfunctions Syndrome 1	29
2604	c	CRN277	Craniosynostosis 2	29
2605		SPR108	Suprabulbar Paresis, Congenital	28
2606		KYP002	Kyphomelic Dysplasia	28
2607	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	28
2608		PNC060	Punctate Porokeratosis	28
2609		RMN002	Ramon Syndrome	28
2610		MYP093	Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset	28
2611		MYC021	Mycobacterium Xenopi	27
2612	P	KNN002	Kenny-Caffey Syndrome	27
2613	c	CRN281	Craniosynostosis 7	27
2614	c	MLT119	Multiple Mitochondrial Dysfunctions Syndrome 3	27
2615		THY042	Thymic Epithelial Tumor	27
2616	c	RST012	Restless Legs Syndrome 1	27
2617	P	EPL198	Epilepsy, Myoclonic Juvenile	27
2618		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	27
2619		RMR001	Ramer Ladda Syndrome	27
2620		NNT018	Neonatal Herpes	26
2621		EF001	Eaf	26
2622		PLM061	Pulmonary Edema of Mountaineers	26
2623	c	EPL210	Epilepsy, Progressive Myoclonic, 6	26
2624	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	26
2625	c	RST020	Restless Legs Syndrome 6	26
2626		MD2001	Med23	26
2627	c	HYP525	Hypotrichosis 2	26
2628		HMN001	Human Monocytic Ehrlichiosis	26
2629	c	MYS076	Myasthenic Syndrome, Congenital, 8	25
2630	c	DMN017	Diamond-Blackfan Anemia 10	25
2631	c	KRT029	Keratoconus 1	25
2632	c	MLT139	Multiple Mitochondrial Dysfunctions Syndrome 4	25
2633	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	25
2634	c	DMN022	Diamond-Blackfan Anemia 9	25
2635	c	MLG048	Malignant Acrospiroma	25
2636		DBL004	Double Discordia	25
2637	P	SPS225	Spastic Paralysis, Infantile-Onset Ascending	25
2638		MNS001	Mansonelliasis	25
2639		NNH002	Non-a-E Hepatitis	25
2640	c	EPL155	Epilepsy, Progressive Myoclonic, 8	25
2641		FXC001	Foix Chavany Marie Syndrome	25
2642		NVR001	Nievergelt Syndrome	24
2643	c	CNG129	Congenital Torticollis	24
2644	c	OPT064	Optic Atrophy 11	24
2645	c	EPL154	Epilepsy, Progressive Myoclonic, 9	24
2646		WTS001	Watson Syndrome	24
2647		PTY006	Pityriasis Lichenoides Et Varioliformis Acuta	24
2648	c	MYS074	Myasthenic Syndrome, Congenital, 12	24
2649		MTC108	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	24
2650		MYC016	Mycobacterium Gordonae	24
2651	c	INF041	Infantile-Onset Ascending Hereditary Spastic Paralysis	24
2652	c	EPL134	Epilepsy, Progressive Myoclonic 7	24
2653	c	DMN019	Diamond-Blackfan Anemia 4	24
2654	c	DMN006	Diamond-Blackfan Anemia 3	24
2655	c	CMR006	Camurati-Engelmann Disease, Type 2	24
2656	c	EPL188	Epilepsy, Progressive Myoclonic, 10	23
2657	c	MYS064	Myasthenic Syndrome, Congenital, 16	23
2658	c	DMN024	Diamond-Blackfan Anemia 7	23
2659	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	23
2660	c	DMN018	Diamond-Blackfan Anemia 5	23
2661		PLY039	Polymorphic Reticulosis	23
2662	c	ATX033	Ataxia-Oculomotor Apraxia 4	23
2663	c	MLG148	Malignant Hyperthermia 2	23
2664		RTR012	Retroperitoneal Liposarcoma	23
2665		AMY018	Amyotonia Congenita	23
2666	c	HYP597	Hyperprolinemia, Type Ii	23
2667	P	ACR072	Acrorenal Syndrome	23
2668	c	CRN221	Craniosynostosis 4	23
2669		PRL021	Perilymphatic Fistula	23
2670		PNS015	Penoscrotal Transposition	23
2671	c	DMN005	Diamond-Blackfan Anemia 2	23
2672	c	MLG149	Malignant Hyperthermia 3	23
2673	c	MCL073	Macular Dystrophy, Vitelliform, 1	22
2674	c	MYS070	Myasthenic Syndrome, Congenital, 19	22
2675	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	22
2676		CRT060	Cor Triatriatum Sinister	22
2677	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	22
2678	c	MYS065	Myasthenic Syndrome, Congenital, 18	22
2679	c	CRN256	Craniosynostosis 6	22
2680	c	DMN029	Diamond-Blackfan Anemia 11	22
2681		NN2002	Non 24 Hour Sleep Wake Disorder	22
2682	P	ACR049	Acrospiroma	22
2683		ANS017	Anosmia, Isolated Congenital	22
2684	c	NLD011	Nail Disorder, Nonsyndromic Congenital, 2	22
2685		IRV001	Irvan Syndrome	22
2686	c	MYP018	Myopia 6	22
2687	P	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	22
2688		MYP017	Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay	22
2689	c	MLG150	Malignant Hyperthermia 4	22
2690		HRS002	Hersh Podruch Weisskopk Syndrome	22
2691	c	MLT151	Multiple Mitochondrial Dysfunctions Syndrome 5	21
2692	c	DMN020	Diamond-Blackfan Anemia 8	21
2693	c	BRG012	Brugada Syndrome 9	21
2694	c	CRN217	Craniosynostosis 3	21
2695	c	AGM018	Agammaglobulinemia, X-Linked, Type 2	21
2696		ALG026	Al-Gazali Syndrome	21
2697	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	21
2698	c	MYS077	Myasthenic Syndrome, Congenital, 15	21
2699		INT095	Internal Carotid Agenesis	21
2700		BLC017	Black Hairy Tongue	21
2701		OCL043	Oculorenocerebellar Syndrome	21
2702	c	MLG151	Malignant Hyperthermia 5	21
2703	c	RTN032	Retinal Cone Dystrophy 1	20
2704	c	BRG009	Brugada Syndrome 7	20
2705		LWS001	Lewis-Sumner Syndrome	20
2706	c	DMN028	Diamond-Blackfan Anemia 12	20
2707	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	20
2708	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	20
2709	c	SCN059	Secondary Sclerosing Cholangitis	20
2710		LGR001	Laugier-Hunziker Syndrome	20
2711		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	20
2712	c	MLT167	Multiple Mitochondrial Dysfunctions Syndrome 6	20
2713	c	MYP116	Myopathy, Distal, 5	20
2714	c	GLM014	Glomerulopathy with Fibronectin Deposits 1	20
2715	c	ANX008	Anauxetic Dysplasia 2	20
2716	c	MYP095	Myopathy, Distal, 4	20
2717		HVY002	Heavy Metal Poisoning	19
2718	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	19
2719	c	MYP112	Myopathy, Distal, 3	19
2720	c	FCL030	Facial Paresis, Hereditary Congenital, 1	19
2721	c	BMN004	Biemond Syndrome Ii	19
2722		DYS038	Dysgnathia Complex	19
2723		ENT016	Enterovesical Fistula	19
2724		MSC017	Mosaic Trisomy 22	19
2725	c	HRS034	Hirschsprung Disease 3	19
2726	c	FCL056	Facial Paresis, Hereditary Congenital, 3	19
2727		DXT003	Dextrocardia with Unusual Facies and Microphthalmia	19
2728	c	MYP074	Myopia 23, Autosomal Recessive	19
2729		THM005	Thumb Deformity	19
2730	c	CRN216	Craniosynostosis 5	19
2731	c	EPL217	Epilepsy, Juvenile Myoclonic 10	18
2732	c	BRG010	Brugada Syndrome 8	18
2733		FTZ002	Fitz-Hugh-Curtis Syndrome	18
2734		CNG092	Congenital Extrahepatic Portosystemic Shunt	18
2735	c	MYC086	Myoclonic Epilepsy, Juvenile 4	18
2736		RTN078	Retinoschisis of Fovea	18
2737	c	VNB004	Van Buchem Disease, Type 2	18
2738		HYD031	Hydroxyprolinemia	18
2739	c	PLY177	Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease	18
2740		MSC019	Mosaic Trisomy 7	18
2741		ATR017	Atrial Septal Defect Coronary Sinus	18
2742		CRT061	Cor Triatriatum Dexter	18
2743		UVL008	Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability	18
2744	c	FCL050	Facial Paresis, Hereditary Congenital, 2	18
2745		SNR002	Sener Syndrome	18
2746	c	MYP070	Myopia 21, Autosomal Dominant	18
2747		RDT004	Radiation Induced Brachial Plexopathy	18
2748		HYP689	Hypomelia with Mullerian Duct Anomalies	17
2749	c	BRG008	Brugada Syndrome 6	17
2750		ANN018	Anonychia, Total, with Microcephaly	17
2751	c	MLG152	Malignant Hyperthermia 6	17
2752		MCR340	Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate	17
2753	P	HRD043	Hereditary Congenital Facial Paresis	17
2754		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	17
2755		SGR001	Sugarman Brachydactyly	17
2756	c	EPL186	Epilepsy, Juvenile Myoclonic 9	17
2757	c	HRS027	Hirschsprung Disease 5	17
2758		RSM002	Rasmussen Johnsen Thomsen Syndrome