Rare Diseases Category (15457 diseases)

Including: rare
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1	P	JBR020	Joubert Syndrome 1	72
2	c	JBR015	Joubert Syndrome 6	43
3	c	JBR024	Joubert Syndrome 14	42
4	c	JBR004	Joubert Syndrome 2	40
5	c	JBR025	Joubert Syndrome 17	38
6	c	JBR041	Joubert Syndrome 3	36
7	c	JBR022	Joubert Syndrome 20	34
8	c	JBR012	Joubert Syndrome 5	32
9	c	JBR014	Joubert Syndrome 9	30
10	c	JBR026	Joubert Syndrome 15	30
11	c	JBR042	Joubert Syndrome 23	29
12	c	JBR031	Joubert Syndrome 21	29
13	c	JBR013	Joubert Syndrome 8	28
14	c	JBR016	Joubert Syndrome 10	28
15	c	JBR011	Joubert Syndrome 7	27
16	c	JBR039	Joubert Syndrome 28	27
17	c	JBR030	Joubert Syndrome 22	26
18	c	JBR018	Joubert Syndrome 4	26
19	c	JBR027	Joubert Syndrome 16	25
20	c	JBR021	Joubert Syndrome 18	25
21	c	JBR036	Joubert Syndrome 25	25
22	c	JBR043	Joubert Syndrome 32	25
23	c	JBR035	Joubert Syndrome 24	25
24	c	JBR040	Joubert Syndrome 30	24
25	c	JBR045	Joubert Syndrome 33	24
26	c	JBR037	Joubert Syndrome 26	24
27	c	JBR028	Joubert Syndrome 13	23
28	c	JBR047	Joubert Syndrome 35	23
29	c	JBR038	Joubert Syndrome 27	22
30	c	JBR044	Joubert Syndrome 31	22
31		FRG013	Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)	19
32	c	SYS001	Systemic Lupus Erythematosus	88
33		PFF001	Pfeiffer Syndrome	79
34	P	NRF023	Neurofibromatosis, Type Ii	77
35	P	SCH015	Schizophrenia	76
36	c	HPT073	Hepatitis C Virus	74
37	P	MLT020	Multiple Sclerosis	73
38		MYL009	Myelodysplastic Syndrome	72
39	P	WSK001	Wiskott-Aldrich Syndrome	71
40	P	AMY004	Amyloidosis	71
41	P	PHC003	Pheochromocytoma	71
42	P	BRG001	Brugada Syndrome	70
43		BSL036	Basal Cell Nevus Syndrome	70
44		BHC003	Behcet Syndrome	70
45		CMM004	Common Variable Immunodeficiency	69
46	P	DBT085	Diabetes Mellitus, Insulin-Dependent	68
47	P	SYS005	Systemic Scleroderma	68
48	P	ORT004	Orthostatic Intolerance	68
49		CHD001	Chediak-Higashi Syndrome	68
50		OMN001	Omenn Syndrome	66
51	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	66
52	P	HRP006	Herpes Simplex	66
53	P	TRN020	Turner Syndrome	66
54		DMN031	Dementia, Lewy Body	66
55	P	CCK001	Cockayne Syndrome	66
56		MSC007	Muscle Hypertrophy	65
57		KWS002	Kawasaki Disease	65
58	c	RHB024	Rhabdomyosarcoma 2	64
59	P	HRM001	Hermansky-Pudlak Syndrome	64
60	P	GCH001	Gaucher's Disease	63
61	c	PRC016	Pre-Eclampsia	63
62	P	MYP004	Myopathy	63
63	P	TRC072	Treacher Collins Syndrome 1	63
64	c	SYS004	Systemic Mastocytosis	63
65	P	CRN038	Carney Complex Variant	63
66	P	RHB003	Rhabdomyosarcoma	62
67		INC021	Incontinentia Pigmenti	62
68	P	MST009	Mastocytosis	62
69	c	PRG042	Progressive Familial Heart Block, Type Ia	62
70	P	LPS004	Lupus Erythematosus	62
71		PRP083	Porphyria, Acute Intermittent	62
72		CRN296	Carnitine Palmitoyltransferase Ii Deficiency, Infantile	62
73	P	SNS001	Sensorineural Hearing Loss	62
74	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	62
75		CTR172	Citrullinemia, Classic	62
76	P	CTR002	Cataract	62
77	c	PNS012	Paine Syndrome	61
78	c	DNG003	Dengue Disease	61
79	P	SHW006	Shwachman-Diamond Syndrome 1	61
80	c	ATS347	Autosomal Dominant Polycystic Kidney Disease	61
81		CHR066	Chronic Fatigue Syndrome	61
82	P	PLY014	Polycystic Kidney Disease	61
83	P	CND004	Candidiasis	61
84	P	SCL018	Scoliosis	61
85		CHR619	Chromosome 2q35 Duplication Syndrome	61
86		CHL067	Cholecystitis	60
87		ALS001	Alstrom Syndrome	60
88	P	MYC008	Myocarditis	60
89	P	MLG056	Malignant Hyperthermia	60
90	c	CLR131	Ciliary Dyskinesia, Primary, 1	59
91	c	CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	59
92	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	59
93	P	THR005	Thrombotic Thrombocytopenic Purpura	59
94		ADL030	Adult-Onset Still's Disease	59
95	P	WLF004	Wolfram Syndrome	58
96		STS003	Sitosterolemia	58
97	P	PLY011	Polycystic Ovary Syndrome	58
98	P	ALP008	Alopecia	58
99		ALP097	Alopecia Universalis Congenita	58
100		KND001	Kindler Syndrome	58
101		RSP019	Respiratory Distress Syndrome in Premature Infants	58
102	c	PLY162	Polyposis Syndrome, Hereditary Mixed, 1	58
103		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	58
104		TMT001	Timothy Syndrome	58
105	P	DNG005	Dengue Virus	57
106	c	MSC037	Muscular Dystrophy-Dystroglycanopathy , Type a, 4	57
107	c	LNG047	Long Qt Syndrome 2	57
108		SCH014	Schistosomiasis	57
109		FCT003	Factor X Deficiency	57
110		MTC146	Mitochondrial Complex I Deficiency, Nuclear Type 1	57
111		CPR004	Coproporphyria, Hereditary	57
112	c	ANG068	Angioedema, Hereditary, Type I	57
113	P	SCK004	Seckel Syndrome	57
114		SFT003	Soft Tissue Sarcoma	57
115	P	GLL022	Guillain-Barre Syndrome	56
116		ENH001	Enhanced S-Cone Syndrome	56
117		ANT024	Anthrax Disease	56
118	c	ANM036	Anemia, Sideroblastic, 1	56
119		FLR002	Filariasis	56
120	c	CHR417	Chronic Graft Versus Host Disease	56
121	c	WLF013	Wolfram Syndrome 1	56
122		DBL002	Double Outlet Right Ventricle	55
123	P	PNM006	Pneumoconiosis	55
124	c	ATM082	Autoimmune Lymphoproliferative Syndrome, Type V	55
125		SYN007	Synovitis	55
126		MTC097	Mitochondrial Complex Iv Deficiency	55
127		TTZ003	Tietz Albinism-Deafness Syndrome	55
128		HRD031	Hereditary Paraganglioma-Pheochromocytoma Syndromes	55
129		OCL020	Ocular Cicatricial Pemphigoid	55
130	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	55
131	c	THR045	Thrombotic Thrombocytopenic Purpura, Congenital	55
132		CLF004	Cleft Lip/palate	55
133		VSC044	Visceral Myopathy	54
134	P	ESP035	Esophagitis, Eosinophilic, 1	54
135	c	INT064	Intermediate Uveitis	54
136		PRP016	Paraplegia	54
137	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
138	P	ANG015	Angioedema	54
139	c	SCN036	Secondary Progressive Multiple Sclerosis	54
140		LYS003	Lysinuric Protein Intolerance	54
141		HMS001	Hemosiderosis	54
142		INF034	Infective Endocarditis	53
143		NTR018	Neutrophilia, Hereditary	53
144		EBS001	Ebstein Anomaly	53
145	P	ACT105	Acute Mountain Sickness	53
146	P	RTN018	Retinal Disease	53
147	P	ECL001	Eclampsia	53
148		HYP741	Hyperparathyroidism 2 with Jaw Tumors	53
149	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	53
150	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	53
151	P	PRR016	Pierre Robin Syndrome	53
152	c	HPT007	Hepatitis E	53
153	P	VSC013	Visceral Heterotaxy	53
154	P	SCK005	Sickle Cell Disease	53
155	c	OST163	Osteopetrosis, Autosomal Recessive 3	53
156		FCL009	Focal Dermal Hypoplasia	53
157	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	52
158	c	PST005	Posterior Uveitis	52
159		GLC009	Glucosephosphate Dehydrogenase Deficiency	52
160		RGH009	Right Atrial Isomerism	52
161	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	52
162	P	LCT001	Lactic Acidosis	52
163		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	52
164	P	PRT096	Peritoneal Mesothelioma	52
165		ORT008	Orotic Aciduria	51
166		RST011	Restrictive Dermopathy, Lethal	51
167		PLC008	Placenta Disease	51
168		LPD016	Lipoid Proteinosis of Urbach and Wiethe	51
169	c	WRD033	Waardenburg Syndrome, Type 2e	51
170		FLT011	Felty Syndrome	51
171	P	ANL018	Analbuminemia	51
172	P	PRK001	Porokeratosis	51
173		PHL006	Phelan-Mcdermid Syndrome	51
174		ERD001	Erdheim-Chester Disease	51
175	c	CRS016	Crisponi/cold-Induced Sweating Syndrome 1	51
176	P	NML001	Nemaline Myopathy	51
177	c	CCK008	Cockayne Syndrome a	51
178	c	PYR010	Peyronie's Disease	51
179	P	ALP061	Alopecia, Androgenetic, 1	51
180	c	SVR005	Severe Pre-Eclampsia	50
181	P	DDN001	Duodenal Ulcer	50
182	P	PLM006	Pulmonary Alveolar Proteinosis	50
183	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	50
184		TBR011	Tuberculous Meningitis	50
185		MLB001	Mulibrey Nanism	50
186	c	AMY009	Amyloidosis Aa	50
187	P	ESN008	Eosinophilic Pneumonia	50
188	c	BRG005	Brugada Syndrome 1	50
189	c	CNT075	Central Precocious Puberty	50
190	c	VRL007	Viral Encephalitis	49
191	c	VNW008	Von Willebrand Disease, Type 3	49
192	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	49
193		ESP002	Esophageal Varix	49
194	c	PRM108	Primary Progressive Multiple Sclerosis	49
195	P	PRX021	Proximal Symphalangism	49
196		THY128	Thyroid Tumor	49
197	c	MYP072	Myopathy, Myofibrillar, 1	49
198		VRN004	Vernal Keratoconjunctivitis	49
199	P	HYP121	Hypoalphalipoproteinemia	49
200	P	WHT013	White Sponge Nevus 1	49
201	c	PRG126	Progressive Familial Heart Block	49
202	P	HMN032	Human Herpesvirus 8	49
203		TRC008	Trachoma	49
204	P	SCL015	Scleritis	49
205		SCR020	Sacral Defect with Anterior Meningocele	48
206	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	48
207		END020	Endocardial Fibroelastosis	48
208	c	CNG027	Congenital Hemolytic Anemia	48
209		PST062	Pustulosis Palmaris Et Plantaris	48
210	P	FNG006	Feingold Syndrome 1	48
211	c	NML003	Nemaline Myopathy 2	48
212	c	NML002	Nemaline Myopathy 1	48
213		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	48
214	c	GRS014	Griscelli Syndrome, Type 2	48
215	P	FNC004	Fanconi Syndrome	48
216		NRL004	Neuroleptic Malignant Syndrome	48
217		STV007	Stevens-Johnson Syndrome/toxic Epidermal Necrolysis	48
218		VTR007	Vitreoretinopathy	48
219		FBR032	Fibromuscular Dysplasia	48
220	c	INH030	Inherited Retinal Disorder	48
221	c	CCK007	Cockayne Syndrome B	48
222	c	PRG043	Progressive Familial Heart Block, Type Ib	48
223		RSP023	Rasopathy	48
224		VCS001	Vici Syndrome	48
225	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	48
226		RCR004	Recurrent Respiratory Papillomatosis	48
227	c	BRC079	Brachydactyly, Type A2	47
228		TTR011	Tetraploidy	47
229	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	47
230	c	ART155	Arthrogryposis, Distal, Type 2b1	47
231	P	PRD021	Periodic Paralysis	47
232		TRC040	Tracheoesophageal Fistula	47
233	P	SCL009	Sclerosing Cholangitis	47
234	c	SCK009	Seckel Syndrome 1	47
235		MNC019	Monocarboxylate Transporter 1 Deficiency	47
236	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	47
237		NSS002	Neisseria Meningitidis Infection	47
238	P	MYF003	Myofibrillar Myopathy	47
239	P	CNG003	Congenital Dyserythropoietic Anemia	47
240		MYL013	Myeloperoxidase Deficiency	47
241	P	GND004	Gonadal Dysgenesis	47
242		PTT037	Pituitary Tumors	47
243		HMF009	Hemifacial Hyperplasia	47
244	P	CRN074	Coronary Artery Aneurysm	47
245		MWT001	Mowat-Wilson Syndrome	47
246	P	SMP003	Simpson-Golabi-Behmel Syndrome	47
247	c	WRD032	Waardenburg Syndrome, Type 2a	47
248	P	HYP828	Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	47
249		HNN001	Hennekam Syndrome	47
250	P	JVN007	Juvenile Absence Epilepsy	47
251		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	47
252		MYC072	Myoclonic Epilepsy Associated with Ragged-Red Fibers	47
253		CYT002	Cytokine Deficiency	46
254	c	WRD020	Waardenburg Syndrome, Type 4a	46
255		CRD002	Cri-Du-Chat Syndrome	46
256	P	MCL001	Mucolipidosis	46
257		MNN020	Meningococcal Infection	46
258	P	KLP003	Klippel-Feil Syndrome	46
259		HMP009	Haemophilus Influenzae	46
260		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	46
261		GRN017	Granulocytopenia	46
262		CNG028	Congenital Hypoplastic Anemia	46
263		ERY004	Erysipelas	46
264		VSC016	Vasculopathy, Retinal, with Cerebral Leukodystrophy	46
265		IDP035	Idiopathic Achalasia	46
266		SBL008	Sea-Blue Histiocyte Disease	46
267	P	RSM001	Rasmussen Encephalitis	46
268		STS002	Situs Inversus	46
269		NVS001	Neovascular Glaucoma	46
270		LMB050	Limbal Stem Cell Deficiency	46
271		RBF001	Riboflavin Deficiency	46
272	c	CHR037	Chronic Eosinophilic Pneumonia	46
273		TLP001	Talipes Equinovarus	45
274		NNK001	Nonaka Myopathy	45
275	P	CMP008	Compartment Syndrome	45
276		PRG033	Progressive Non-Fluent Aphasia	45
277	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	45
278		NNS002	Nonspecific Interstitial Pneumonia	45
279	P	JVN008	Juvenile Glaucoma	45
280	c	LNG051	Long Qt Syndrome 6	45
281	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	45
282		PRX001	Peroxisomal Disease	45
283	P	HMP006	Hemiplegic Migraine	45
284	P	NLX004	Neu-Laxova Syndrome 1	45
285		ART031	Aortic Coarctation	45
286		MNG006	Monogenic Diabetes	45
287	P	EPT020	Epithelioid Hemangioendothelioma	45
288	c	ACT076	Acute Myocarditis	45
289		PRM057	Paramyotonia Congenita of Von Eulenburg	45
290	c	MLG002	Malignant Peritoneal Mesothelioma	45
291		GLC036	Glucagonoma	45
292	P	PSD003	Pseudohypoaldosteronism	45
293	c	DYS119	Dystonia 9	45
294		SPN119	Spondylarthropathy	45
295		LCH011	Lichen Planopilaris	45
296	P	ATS406	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	45
297		GGR001	Geographic Tongue	45
298	c	CTR098	Cataract 1, Multiple Types	45
299	c	SCH085	Schizophrenia 2	45
300	P	PLY020	Polyradiculoneuropathy	45
301		RDC006	Red Cell Aplasia	45
302	c	BRD020	Bardet-Biedl Syndrome 8	45
303	c	MYP078	Myopathy, Myofibrillar, 3	44
304		IDP033	Idiopathic Edema	44
305	c	SCH079	Schizophrenia 1	44
306		HYP706	Hypermobile Ehlers-Danlos Syndrome	44
307		VLV044	Vulvar Intraepithelial Neoplasia	44
308		STT007	Steatocystoma Multiplex	44
309		DXT002	Dextrocardia with Situs Inversus	44
310	P	SYN075	Syngnathia	44
311		ANP009	Anaplastic Oligodendroglioma	44
312	c	NML004	Nemaline Myopathy 3	44
313	P	HRT035	Heart Block, Congenital	44
314		EST005	Esotropia	44
315		ASB001	Asbestosis	44
316		DSC009	Discoid Lupus Erythematosus	44
317	c	ERL020	Early-Onset Schizophrenia	44
318	P	ERY008	Erythromelalgia	44
319	P	PRT042	Parietal Foramina	44
320		TRS021	Triosephosphate Isomerase Deficiency	44
321		CTY001	Cat Eye Syndrome	43
322		IDP073	Idiopathic Hypercalciuria	43
323		KPS002	Kaposiform Hemangioendothelioma	43
324		ANC002	Anca-Associated Vasculitis	43
325	c	RNG023	Ring Chromosome 7	43
326	P	RNG032	Ring Chromosome	43
327		ACT055	Actinomycosis	43
328		CHR594	Chromosome 3q29 Deletion Syndrome	43
329	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	43
330		HYP231	Hypothalamic Hamartomas	43
331		MRB001	Marburg Hemorrhagic Fever	43
332	P	AVS003	Avascular Necrosis	43
333	c	MCL066	Macular Dystrophy, Vitelliform, 2	43
334	c	CHR546	Chronic Mountain Sickness	43
335	c	USH035	Usher Syndrome Type 2	43
336		PLG004	Plagiocephaly	43
337	P	HYP087	Hypotrichosis	43
338		PRS115	Prosthetic Joint Infection	43
339	P	VTL001	Vitelliform Macular Dystrophy	43
340	c	ACQ010	Acquired Polycythemia	43
341		FNT005	Fontaine Progeroid Syndrome	43
342	P	RDL002	Radioulnar Synostosis	43
343		JVN033	Juvenile Nasopharyngeal Angiofibroma	43
344	P	HRD018	Hair Disease	43
345		CRR002	Currarino Syndrome	43
346	c	HYP575	Hypotrichosis 7	43
347	c	BRT050	Bartter Syndrome, Type 2, Antenatal	43
348	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	43
349		CHL109	Childhood Apraxia of Speech	43
350	c	46X002	46 Xx Gonadal Dysgenesis	43
351		HRL004	Hurler-Scheie Syndrome	43
352		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	43
353	c	BRD011	Bardet-Biedl Syndrome 10	43
354	c	KNB006	Knobloch Syndrome 1	43
355	c	CRN243	Carney Complex, Type 1	43
356	P	MYG005	Myoglobinuria	43
357	P	KLZ004	Kala-Azar 1	43
358		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	42
359		MYC013	Mycobacterium Abscessus	42
360	c	RTS003	Ritscher-Schinzel Syndrome 1	42
361	c	CHR576	Chronic Beryllium Disease	42
362		PLM184	Pulmonary Arterial Hypertension Associated with Congenital Heart Disease	42
363		FBL002	Fibular Hypoplasia and Complex Brachydactyly	42
364	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	42
365	P	OSS001	Ossifying Fibroma	42
366	P	SYN012	Synpolydactyly	42
367		DYS032	Dystrophinopathies	42
368	c	PRM032	Primary Congenital Glaucoma	42
369		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	42
370	c	WRD019	Waardenburg Syndrome, Type 4b	42
371		CNG069	Congenital Cytomegalovirus	42
372		MCR173	Microform Holoprosencephaly	42
373	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	42
374	P	PRP034	Purpura Fulminans	42
375		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	42
376	P	GLM044	Glomerular Disease	42
377	c	ALP105	Alport Syndrome 2, Autosomal Recessive	42
378		C1Q001	C1q Deficiency	42
379		FNG016	Fungal Keratitis	42
380	c	NNN013	Noonan Syndrome 6	41
381		IDP064	Idiopathic Neutropenia	41
382	c	USH041	Usher Syndrome, Type if	41
383		NTR007	Neutral Lipid Storage Disease with Myopathy	41
384		FCL022	Focal Dystonia	41
385		WRS002	Warsaw Breakage Syndrome	41
386		RLP003	Relapsing Fever	41
387		CRV045	Cervical Intraepithelial Neoplasia	41
388	P	PYR039	Peyronie Disease	41
389		FRY002	Fryns Syndrome	41
390		TRP014	Triploidy	41
391	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	41
392	c	LNG053	Long Qt Syndrome 9	41
393	c	BRT038	Baraitser-Winter Syndrome 1	41
394	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	41
395		CSL001	Causalgia	41
396		ATP013	Atopic Keratoconjunctivitis	41
397	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	41
398		PCH007	Pouchitis	41
399	c	MYP079	Myopathy, Myofibrillar, 5	41
400	P	DYS021	Dysautonomia	41
401	c	MYP082	Myopathy, Myofibrillar, 2	41
402		PRM329	Premature Aging	41
403		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	41
404		CHR008	Choroiditis	41
405		DPH019	Diaphanospondylodysostosis	41
406	c	MCK031	Meckel Syndrome, Type 2	41
407	c	TYR011	Tyrosinemia, Type Iii	41
408		CLP005	Ciliopathy	41
409		ORM002	Oromandibular Dystonia	41
410	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	41
411	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	41
412	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	40
413		KRT063	Keratocystic Odontogenic Tumor	40
414	c	VNM003	Van Maldergem Syndrome 1	40
415		HTR003	Heterotaxy	40
416		MNK002	Monkeypox	40
417	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	40
418		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	40
419		MLT028	Multiminicore Disease	40
420		MNT309	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1	40
421	P	SYR003	Syringoma	40
422	c	SCH082	Schizophrenia 5	40
423		HRP025	Herpes Simplex Virus Keratitis	40
424		RCK002	Rocky Mountain Spotted Fever	40
425	c	MLG157	Malignant Pheochromocytoma	40
426	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	40
427		TRP006	Tarp Syndrome	40
428	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	40
429	P	BRY005	Beryllium Disease	40
430		SPS019	Spastic Paraparesis	40
431	P	ANT061	Antenatal Bartter Syndrome	40
432	P	YWS001	Yaws	40
433		INH001	Inhalation Anthrax	40
434		SCH060	Schistosoma Mansoni Infection, Susceptibility/	40
435		MYL057	Myelopathy, Htlv-1-Associated	40
436	c	EPL133	Epilepsy, Juvenile Absence 1	40
437	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	40
438	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	40
439		URM005	Uremic Pruritus	40
440	c	NML005	Nemaline Myopathy 4	40
441	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	40
442		ACN019	Acanthamoeba Keratitis	40
443	c	HYP847	Hyper Ige Recurrent Infection Syndrome 1	40
444	c	GLL037	Guillain-Barre Syndrome, Familial	39
445		PST027	Postencephalitic Parkinson Disease	39
446		SML028	Semilobar Holoprosencephaly	39
447		SPS004	Spastic Quadriplegia	39
448	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	39
449	c	RTN172	Retinitis Pigmentosa 1	39
450		LCH009	Lichen Sclerosus	39
451	c	ATM075	Autoimmune Encephalitis	39
452	P	MCR364	Macrodactyly	39
453	c	ANT071	Anterior Segment Dysgenesis 4	39
454	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	39
455		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	39
456	P	OMD003	Omodysplasia	39
457		PSR016	Psoriatic Juvenile Idiopathic Arthritis	39
458	c	SYS043	Systemic Lupus Erythematosus 1	39
459	c	PSD106	Pseudo-Torch Syndrome 1	39
460		GNT029	Genetic Hypertension	39
461		HNZ004	Heinz Body Anemias	39
462	c	MYC083	Myoclonic Epilepsy, Familial Infantile	39
463		SBV001	Subvalvular Aortic Stenosis	39
464	P	TRC005	Tracheal Stenosis	39
465		SNG007	Sengers Syndrome	39
466		VLV042	Vulvar Vestibulitis Syndrome	39
467		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	39
468	c	SCK015	Seckel Syndrome 2	39
469	P	DNT009	Dentin Dysplasia	39
470	P	CNG048	Congenital Hepatic Fibrosis	39
471		MYC017	Mycobacterium Kansasii	39
472		BNB002	Bainbridge-Ropers Syndrome	39
473		ZKV001	Zika Virus Infection	39
474		CRT055	Creatine Deficiency Syndromes	39
475		AMN006	Aminoaciduria	39
476		SPC031	Specific Learning Disability	39
477		HRT040	Hirata Disease	39
478	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	39
479		CHY005	Chylothorax, Congenital	39
480	P	BRT040	Baraitser-Winter Syndrome	38
481	c	CTR096	Cataract 6, Multiple Types	38
482	c	MCP051	Mucopolysaccharidosis, Type Ix	38
483	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	38
484	P	SRT003	Sertoli-Leydig Cell Tumor	38
485	c	CTR130	Cataract 9, Multiple Types	38
486	c	PRG011	Progressive Myoclonus Epilepsy	38
487	c	XFP001	Xfe Progeroid Syndrome	38
488	P	INT260	Intracranial Berry Aneurysm	38
489		MNN021	Meningococcemia	38
490		OHD005	Ohdo Syndrome, Sbbys Variant	38
491	c	CTR103	Cataract 4, Multiple Types	38
492		LSS001	Loiasis	38
493	c	HYP507	Hypotrichosis 1	38
494	P	HRD144	Hereditary Mixed Polyposis Syndrome	38
495	c	BRG007	Brugada Syndrome 5	38
496		CRB091	Cerebro-Oculo-Facio-Skeletal Syndrome	38
497	c	WRB005	Warburg Micro Syndrome 4	38
498	c	PLY105	Polycystic Ovary Syndrome 1	38
499		STR077	Streptococcal Toxic-Shock Syndrome	38
500	c	SYN084	Synpolydactyly 1	38
501		PTT045	Pituitary Hormone Deficiency, Combined, 1	38
502	c	HYP559	Hypotrichosis 8	38
503	c	CTR132	Cataract 3, Multiple Types	38
504	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	38
505		CHL078	Childhood-Onset Schizophrenia	38
506	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	38
507		SYS071	Systemic Autoimmune Disease	38
508	c	RTN048	Retinitis Pigmentosa 19	38
509		BLP004	Blepharophimosis	38
510		FLT009	Folate Malabsorption, Hereditary	38
511	c	WRD024	Waardenburg Syndrome, Type 4c	38
512	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	38
513		ACY011	Acyl-Coa Dehydrogenase Deficiency	38
514		CRB108	Cerebral Palsy, Ataxic, Autosomal Recessive	38
515	c	GNR038	Generalized Epilepsy with Febrile Seizures Plus, Type 1	37
516		NCR001	Necrotizing Ulcerative Gingivitis	37
517	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	37
518	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	37
519		PDT025	Pediatric Multiple Sclerosis	37
520	P	MNN007	Meningocele	37
521	c	MLG049	Malignant Syringoma	37
522	c	ACQ012	Acquired Angioedema	37
523	c	LBR011	Leber Congenital Amaurosis 16	37
524	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	37
525		RTC010	Reticuloendotheliosis	37
526		SYR010	Syringomyelia, Noncommunicating Isolated	37
527		SPT024	Spotted Fever Rickettsiosis	37
528	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	37
529	c	MYG007	Myoglobinuria, Recurrent	37
530		FML168	Familial Isolated Pituitary Adenoma	37
531		MNT058	Mental Retardation, X-Linked, Syndromic, Turner Type	37
532	c	ATS025	Autosomal Dominant Progressive External Ophthalmoplegia	37
533		CHR382	Chromosome 18q Deletion Syndrome	37
534	c	LBR007	Leber Congenital Amaurosis 12	37
535		BLC015	Balo Concentric Sclerosis	37
536		MTG002	Mutagen Sensitivity	37
537		ATR048	Atrial Tachyarrhythmia with Short Pr Interval	37
538	c	BRD019	Bardet-Biedl Syndrome 7	37
539		KSH001	Keshan Disease	37
540	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	36
541		MYT003	Myotonic Disease	36
542	c	ATM022	Autoimmune Myocarditis	36
543		AMR003	Amaurosis Fugax	36
544		CHR178	Chromosomal Triplication	36
545	c	MYP080	Myopathy, Myofibrillar, 4	36
546	c	PST008	Posterior Scleritis	36
547	c	WLF009	Wolfram Syndrome 2	36
548		FST010	Fasting Hypoglycemia	36
549	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	36
550		PLN005	Palindromic Rheumatism	36
551	c	HYP525	Hypotrichosis 2	36
552	c	BNG079	Benign Adult Familial Myoclonic Epilepsy	36
553	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	36
554	c	NNN012	Noonan Syndrome 5	36
555	c	SCH051	Schizophrenia 4	36
556		AGM004	Agammaglobulinemia, Non-Bruton Type	36
557	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	36
558	c	WLL037	Weill-Marchesani Syndrome 2	36
559		PCT001	Pectus Carinatum	36
560	c	LRS002	Larsen-Like Syndrome	36
561		GLY032	Glycosylphosphatidylinositol Deficiency	36
562	c	HYP581	Hypotrichosis 6	36
563		CNT057	Central Centrifugal Cicatricial Alopecia	36
564		HMM004	Hamamy Syndrome	36
565	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	36
566	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	36
567		HMM005	Hemimelia	36
568		MDM001	Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency	36
569	P	TRN016	Transient Hypogammaglobulinemia	36
570	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
571	P	CNG024	Congenital Nystagmus	36
572	c	EPS017	Episodic Ataxia, Type 6	36
573		MTC112	Mitochondrial Dna-Associated Leigh Syndrome	36
574	c	PLZ002	Pelizaeus-Merzbacher-Like Disease	36
575	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	36
576		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	36
577		OCH001	Ochronosis	36
578		BSM001	Basement Membrane Disease	36
579	c	RTN042	Retinitis Pigmentosa 12	36
580		BWN003	Bowenoid Papulosis	36
581		STC004	Stachybotrys Chartarum	36
582	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	35
583	c	PRM149	Primary Hypereosinophilic Syndrome	35
584		WBR001	Weber Syndrome	35
585	c	RTN066	Retinitis Pigmentosa 4	35
586		HNS001	Hansen's Disease	35
587		RFR013	Refractory Celiac Disease	35
588		GLC001	Glaucomatocyclitic Crisis	35
589	c	CTR141	Cataract 21, Multiple Types	35
590		LPD001	Lipid Pneumonia	35
591		WRT003	Warthin Tumor	35
592		PRN029	Parainfluenza Virus Type 3	35
593	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	35
594	c	CTR118	Cataract 14, Multiple Types	35
595	c	FNC059	Fanconi-Like Syndrome	35
596	c	CTR170	Cataract 30, Multiple Types	35
597		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	35
598	c	CNG195	Congenital Disorder of Glycosylation, Type Id	35
599		SHW001	Shwartzman Phenomenon	35
600		LPB001	Lipoblastoma	35
601		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	35
602	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	35
603	c	CTR174	Cataract 40	35
604	c	CNG199	Congenital Disorder of Glycosylation, Type Im	35
605	c	CTR122	Cataract 5, Multiple Types	35
606		NNT024	Neonatal Stroke	35
607		INT020	Intravenous Leiomyomatosis	35
608	c	CTR115	Cataract 16, Multiple Types	35
609	c	RTN046	Retinitis Pigmentosa 17	35
610	c	RTN044	Retinitis Pigmentosa 14	35
611		GLT005	Glutamate Formiminotransferase Deficiency	35
612		PLY036	Polyembryoma	35
613		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	35
614	c	SPS021	Spastic Paraplegia 10	35
615	c	ZMM002	Zimmermann-Laband Syndrome 1	35
616	c	MYC068	Myoclonic Epilepsy of Infancy	34
617		OMS001	Omsk Hemorrhagic Fever	34
618		GRN022	Granulosa Cell Tumor of the Ovary	34
619		MCR183	Microcephaly-Capillary Malformation Syndrome	34
620		CHR501	Chromosome 17q12 Deletion Syndrome	34
621	c	HRD171	Hereditary Pulmonary Alveolar Proteinosis	34
622	c	RNG020	Ring Chromosome 4	34
623	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	34
624		RMN001	Rumination Disorder	34
625	c	CTR145	Cataract 44	34
626	P	MTP005	Metaphyseal Anadysplasia	34
627	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	34
628		BWN006	Bowen's Disease	34
629	c	SCH080	Schizophrenia 3	34
630	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
631		HYP806	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	34
632	c	MYP081	Myopathy, Myofibrillar, 6	34
633		SPT023	Septate Uterus	34
634		LMN011	Laminopathy	34
635	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	34
636	c	RST012	Restless Legs Syndrome 1	34
637		ISL109	Isolated Cleft Lip	34
638	P	MYC026	Myoclonus Epilepsy	34
639		ARG001	Argentine Hemorrhagic Fever	34
640		SCL025	Scleromyxedema	34
641	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	34
642		PHT008	Photosensitive Epilepsy	34
643		ATH010	Athyreosis	34
644	c	RNG004	Ring Chromosome 1	34
645		TRS002	Tarsal-Carpal Coalition Syndrome	34
646	c	SYM022	Symphalangism, Proximal, 1a	34
647	c	PLY136	Polydactyly, Preaxial I	34
648	c	PRT059	Parietal Foramina 1	34
649		TXC020	Toxic Oil Syndrome	34
650	P	ZMM001	Zimmermann-Laband Syndrome	34
651	P	CXV002	Coxa Vara	34
652		HYP682	Hypertelorism, Teebi Type	34
653		SCR039	Scorpion Envenomation	34
654		SRC011	Sarcocystosis	34
655	P	ECT002	Ectomesenchymoma	34
656	c	RTN067	Retinitis Pigmentosa 41	34
657		BRN041	Bornholm Eye Disease	34
658	c	ANT023	Anterior Scleritis	33
659		PST103	Postpartum Psychosis	33
660		SLP010	Slipped Capital Femoral Epiphysis	33
661		MTC019	Metachromatic Leukodystrophy Due to Saposin B Deficiency	33
662		NNS011	Nonseminomatous Germ Cell Tumor	33
663	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	33
664	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	33
665		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	33
666		CND006	Candida Glabrata	33
667	P	CHR084	Chromosomal Disease	33
668	c	SPR094	Sporadic Pheochromocytoma	33
669	c	WLL036	Weill-Marchesani Syndrome 1	33
670	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
671		DPH003	Diphyllobothriasis	33
672		MLT035	Multifocal Choroiditis	33
673		CLC017	Calcification of Joints and Arteries	33
674		RFL002	Reflex Epilepsy	33
675	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	33
676		NVS007	Nevus of Ota	33
677	c	RTN036	Retinal Cone Dystrophy 4	33
678	P	DXT004	Dextro-Looped Transposition of the Great Arteries	33
679	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	33
680	c	BRT052	Bartter Syndrome, Type 1, Antenatal	33
681	c	CCK002	Cockayne Syndrome Type I	33
682		PRX009	Paroxysmal Hemicrania	33
683		XLN206	X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	33
684	P	NNT042	Neonatal Lupus Erythematosus	33
685		HRD218	Hereditary Stomatocytosis	33
686		CRD016	Cardiac Rupture	33
687	c	WLL040	Weill-Marchesani Syndrome 4	33
688	c	GNR039	Generalized Epilepsy with Febrile Seizures Plus, Type 2	33
689		DRR017	Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies	33
690	c	PLY149	Polydactyly, Preaxial Iv	33
691	c	GLC083	Glaucoma 3, Primary Infantile, B	33
692		ASH001	Asherman's Syndrome	33
693		PPL050	Papillary Tumor of the Pineal Region	33
694		IDP031	Idiopathic Hypersomnia	32
695	c	SCH056	Schizophrenia 15	32
696		ODN005	Odontogenic Myxoma	32
697	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	32
698		CHR387	Chromosome Xp21 Deletion Syndrome	32
699	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	32
700		MYC014	Mycobacterium Chelonae	32
701		GNR035	Generalized Juvenile Polyposis/juvenile Polyposis Coli	32
702	c	OMD001	Omodysplasia 1	32
703		CYT004	Cytomegalic Inclusion Disease	32
704		HGH041	High-Grade Astrocytoma	32
705		MYS016	Myosclerosis, Autosomal Recessive	32
706	c	DYS146	Dystonia 24	32
707		PRP093	Pierpont Syndrome	32
708		NNN007	Non-Involuting Congenital Hemangioma	32
709		MXD032	Mixed Germ Cell Tumor	32
710	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	32
711	c	BRG006	Brugada Syndrome 2	32
712		PST063	Postsynaptic Congenital Myasthenic Syndromes	32
713		EXN003	Exencephaly	32
714		MSC020	Mosaic Trisomy 8	32
715		SLF015	Self-Improving Collodion Baby	32
716	c	GCH013	Gaucher Disease, Type Iiic	32
717	c	SPN299	Spinocerebellar Ataxia 20	32
718		RFR009	Refractory Cytopenia with Multilineage Dysplasia	32
719	c	CNG198	Congenital Disorder of Glycosylation, Type Il	32
720		GLY061	Glycogen Storage Disease 0, Muscle	32
721		INT104	Intravascular Papillary Endothelial Hyperplasia	32
722		ODN006	Odontoma	32
723		ANG062	Angioosteohypertrophic Syndrome	32
724	c	SCK010	Seckel Syndrome 4	32
725	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	32
726	c	GNR043	Generalized Epilepsy with Febrile Seizures Plus, Type 7	32
727	c	CTR129	Cataract 31, Multiple Types	31
728	c	TRN009	Transient Hypogammaglobulinemia of Infancy	31
729		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	31
730		STT009	Sutton Disease 2	31
731		PRX097	Paroxysmal Dystonia	31
732	c	CTR102	Cataract 2, Multiple Types	31
733		CHR523	Chromosome 15q11.2 Deletion Syndrome	31
734	c	SCK011	Seckel Syndrome 5	31
735		MYP099	Myopathy, Isolated Mitochondrial, Autosomal Dominant	31
736		ENC014	Enchondroma	31
737		SNG003	Single Ventricular Heart	31
738		PLY138	Polymerase Proofreading-Related Adenomatous Polyposis	31
739	c	MLG145	Malignant Epithelioid Hemangioendothelioma	31
740		XNT002	Xanthogranulomatous Cholecystitis	31
741		ALP048	Alopecia Totalis	31
742		PRG023	Progeroid Short Stature with Pigmented Nevi	31
743		ANH001	Ainhum	31
744	c	HYP597	Hyperprolinemia, Type Ii	31
745	c	RTN051	Retinitis Pigmentosa 22	31
746	P	RTS001	Ritscher-Schinzel Syndrome	31
747	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	31
748	c	CNG562	Congenital Hypogonadotropic Hypogonadism	31
749		MYC019	Mycobacterium Marinum	31
750		HGH020	High Molecular Weight Kininogen Deficiency	31
751		MTH047	Methanol Poisoning	31
752		MYP064	Myopericytoma	31
753		ISL011	Isolated Aniridia	31
754		MCL018	Macular Dystrophy, Concentric Annular	31
755		PRC051	Paracetamol Poisoning	31
756	c	PRG101	Progressive Familial Heart Block, Type Ii	31
757	c	MYS011	Myasthenia Gravis Congenital	31
758	c	HYP515	Hypotrichosis 3	31
759		RSP007	Respiratory Distress Syndrome, Infant	31
760		CHR582	Chromosome 3q29 Duplication Syndrome	31
761		ANP008	Anaplastic Oligoastrocytoma	31
762		DRF001	Dirofilariasis	31
763	c	MYS059	Myasthenic Syndrome, Congenital, 4a, Slow-Channel	31
764		GBR007	Gabriele-De Vries Syndrome	30
765	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	30
766		GNT019	Giant Cell Myocarditis	30
767	c	DBT040	Diabetes Mellitus, Insulin-Dependent, 2	30
768	c	PRM316	Primary Congenital Hypothyroidism	30
769		ECT108	Ectodermal Dysplasia and Immunodeficiency 1	30
770		ELS002	Elastosis Perforans Serpiginosa	30
771		CRN273	Corneal Dystrophy, Subepithelial Mucinous	30
772		ACT228	Acute Radiation Syndrome	30
773		PLM058	Pulmonary Atresia with Intact Ventricular Septum	30
774		MTR087	Maternal Uniparental Disomy	30
775	P	HRT017	Heart Tumor	30
776	c	BRT039	Baraitser-Winter Syndrome 2	30
777		IDP041	Idiopathic Recurrent Pericarditis	30
778		TRP020	Tropical Endomyocardial Fibrosis	30
779		HYP808	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration	30
780		ENG004	Engraftment Syndrome	30
781	P	VTR008	Vitreoretinal Degeneration	30
782	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	30
783	c	ERL004	Early Yaws	30
784		GRN033	Granulomatous Mastitis	30
785	c	LYS020	Loeys-Dietz Syndrome 5	30
786	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
787		CMP025	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	30
788		SPN340	Spontaneous Intracranial Hypotension	30
789	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	30
790		ANK010	Ankylostomiasis	30
791	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	30
792	c	WRD010	Waardenburg Syndrome Type 4	30
793	P	VNM004	Van Maldergem Syndrome	30
794	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	30
795	c	ANG045	Angioedema, Hereditary, Type Iii	30
796		GCH010	Gaucher Disease, Atypical, Due to Saposin C Deficiency	30
797	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	30
798	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	30
799	c	CNG020	Congenital Hypogammaglobulinemia	30
800	c	EPL188	Epilepsy, Progressive Myoclonic, 10	30
801		MYC069	Myoclonic-Astastic Epilepsy	30
802		MRF021	Marfanoid-Progeroid-Lipodystrophy Syndrome	30
803	P	SPN202	Spinocerebellar Ataxia, X-Linked 1	30
804		CLS047	Classic Progressive Supranuclear Palsy Syndrome	30
805	c	NLX003	Neu-Laxova Syndrome 2	30
806		MTG001	Metagonimiasis	30
807		CRN051	Craniofacial Microsomia	30
808		PMP009	Pemphigus Erythematosus	29
809	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	29
810		AP4001	Ap-4-Associated Hereditary Spastic Paraplegia	29
811	c	RNG018	Ring Chromosome 22	29
812		ANG050	Angiocentric Glioma	29
813	c	RNG008	Ring Chromosome 13	29
814	P	IDP090	Idiopathic Eosinophilic Pneumonia	29
815		TMP019	Temporomandibular Joint Anomaly	29
816		CRN235	Corneal Dystrophy, Groenouw Type I	29
817		CLC010	Calcifying Epithelial Odontogenic Tumor	29
818		CTC004	Catecholamine-Producing Tumor	29
819		HMC012	Hemicrania Continua	29
820	c	SCH064	Schizophrenia 10	29
821	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	29
822		PTT063	Pattern Dystrophy	29
823		MCR355	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy	29
824		DGT009	Digitotalar Dysmorphism	29
825	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	29
826		ATH004	Athetosis	29
827	P	DVL012	Developmental Dysplasia of the Hip 1	29
828	c	MLG133	Malignant Ectomesenchymoma	29
829		CRD054	Cardiac Arrhythmia, Ankyrin-B-Related	29
830		RNG003	Ring Dermoid of Cornea	29
831		SLR005	Solar Urticaria	29
832		RHM034	Rahman Syndrome	29
833		PRS120	Persistent Idiopathic Facial Pain	29
834	c	CTR181	Cataract 18	29
835		PDT027	Pediatric Ulcerative Colitis	29
836		WRF003	Warfarin Syndrome	29
837	P	CRB210	Cerebrofacial Arteriovenous Metameric Syndrome	29
838		LPG001	Lipogranulomatosis	29
839	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
840		UNV002	Univentricular Heart	29
841		CLB009	Coloboma of Iris	29
842		SCR024	Sacrococcygeal Teratoma	29
843	c	ERL012	Early-Onset Glaucoma	29
844		UVL009	Uvula, Bifid	29
845	P	KNB001	Knobloch Syndrome	29
846		HYL005	Hyaline Body Myopathy	29
847	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	29
848	c	MYS062	Myasthenic Syndrome, Congenital, 2a, Slow-Channel	29
849		SPT016	Septopreoptic Holoprosencephaly	28
850		BJL001	Bejel	28
851		ARG004	Argyria	28
852		SPR038	Supranuclear Ocular Palsy	28
853		RDC010	Reducing Body Myopathy	28
854		INN003	Iniencephaly	28
855	c	RNG005	Ring Chromosome 10	28
856	c	EPL155	Epilepsy, Progressive Myoclonic, 8	28
857	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	28
858	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	28
859		KLB004	Klebsiella Infection	28
860	c	MLT094	Multiple Sclerosis 3	28
861		END051	Endolymphatic Sac Tumor	28
862		BRN055	Bronchogenic Cyst	28
863		KRN007	Kerion Celsi	28
864		FRS007	Frias Syndrome	28
865	c	CTR175	Cataract 24	28
866		QLT008	Qualitative or Quantitative Defects of Dysferlin	28
867		CTR027	Cataract-Glaucoma	28
868	P	ACT241	Acute Bilirubin Encephalopathy	28
869		MST020	Mast Cell Activation Syndrome	28
870		LYS029	Lysosomal Disease	28
871	c	ACQ043	Acquired Lipodystrophy	28
872	c	CTR166	Cataract 33, Multiple Types	28
873	c	SCH073	Schizophrenia 9	28
874	c	RTN068	Retinitis Pigmentosa 6	28
875	c	BRG003	Brugada Syndrome 3	28
876		KCN010	Kcnq2-Related Disorders	28
877		DGT002	Digital Clubbing, Isolated Congenital	28
878	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
879		TRC038	Tracheobronchomegaly	28
880	c	RNG022	Ring Chromosome 6	28
881		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	28
882		WLD004	Wildervanck Syndrome	28
883	c	CLR066	Ciliary Dyskinesia, Primary, 2	28
884		PRK076	Porokeratosis 2, Palmar, Plantar, and Disseminated Type	28
885		LRY026	Laryngeal Cleft	28
886		PSY012	Psychogenic Movement	28
887	c	NML007	Nemaline Myopathy 6	28
888	c	NML022	Nemaline Myopathy 10	28
889	c	RNG016	Ring Chromosome 20	28
890		CYT018	Cytochrome P450 2d6 Variant	28
891		CLV004	Calvarial Hyperostosis	28
892	P	MTR051	Maternal Uniparental Disomy of Chromosome 1	28
893	c	PLM121	Pulmonary Hypertension, Primary, 4	28
894		OVR097	Ovarian Fibrothecoma	28
895		PYR025	Pyruvate Dehydrogenase E2 Deficiency	28
896	c	ICH023	Ichthyosis, Acquired	28
897		GLD003	Goldmann-Favre Syndrome	28
898	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	28
899		CNG065	Congenital Contractures	28
900	P	CRY006	Cryofibrinogenemia	28
901		CHR399	Chromosome 4q21 Deletion Syndrome	28
902	P	PLT008	Pili Torti	28
903	c	SCH087	Schizophrenia 18	28
904	c	PRT060	Parietal Foramina 2	28
905	c	EPL134	Epilepsy, Progressive Myoclonic 7	27
906	c	HRD212	Hereditary Episodic Ataxia	27
907		RFR007	Refractory Anemia with Excess Blasts in Transformation	27
908		CMB015	Combined Oxidative Phosphorylation Deficiency 4	27
909	c	INT274	Intermediate Congenital Nemaline Myopathy	27
910		RHM015	Rhombencephalosynapsis	27
911	c	HYP577	Hypotrichosis 13	27
912		PSD040	Pseudomyotonia	27
913		CRL001	Cerulean Cataract	27
914	c	CLR090	Ciliary Dyskinesia, Primary, 22	27
915	c	EPL210	Epilepsy, Progressive Myoclonic, 6	27
916	c	TRC073	Treacher Collins Syndrome 2	27
917		DFC001	Defective Apolipoprotein B-100	27
918		PDT040	Pediatric Hypertension	27
919		MSM016	Mesomelic Dysplasia, Kantaputra Type	27
920	c	RNG010	Ring Chromosome 15	27
921	c	RNG015	Ring Chromosome 2	27
922	c	CLR094	Ciliary Dyskinesia, Primary, 28	27
923	c	RTN060	Retinitis Pigmentosa 31	27
924	c	BRG010	Brugada Syndrome 8	27
925		SYN089	Syndromic X-Linked Intellectual Disability Snyder Type	27
926		MLD011	Mild Hyperphenylalaninemia	27
927		IGG014	Igg4-Related Sclerosing Cholangitis	27
928	P	PRG139	Progeroid Syndrome	27
929	c	CLR114	Ciliary Dyskinesia, Primary, 30	27
930		PST044	Postorgasmic Illness Syndrome	27
931		DMT001	Dimethylglycine Dehydrogenase Deficiency	27
932	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	27
933	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	27
934		QNQ001	Quinquaud's Decalvans Folliculitis	27
935	c	CTR158	Cataract 37	27
936		PTC005	Pituicytoma	27
937		PRT086	Partial Hydatidiform Mole	27
938	c	STN011	Sting-Associated Vasculopathy with Onset in Infancy	27
939		CLF049	Cleft Lip and Alveolus	27
940		THY042	Thymic Epithelial Tumor	27
941	c	BRG004	Brugada Syndrome 4	27
942		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	27
943		HYP644	Hypocalcified Amelogenesis Imperfecta	27
944		ACT094	Acute Articular Rheumatism	27
945		CRT028	Cor Triatriatum	27
946	c	EPL154	Epilepsy, Progressive Myoclonic, 9	27
947		HYP728	Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia	27
948		CMB017	Combined Oxidative Phosphorylation Deficiency 6	27
949	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	27
950	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	27
951	c	VNM002	Van Maldergem Syndrome 2	27
952		SPC030	Specific Language Disorder	27
953		PRM050	Primary Orthostatic Tremor	27
954	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	27
955	c	SCH081	Schizophrenia 6	27
956		PTT016	Patterson Pseudoleprechaunism Syndrome	27
957	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	26
958		MYC018	Mycobacterium Malmoense	26
959		HTT002	Hutterite Cerebroosteonephrodysplasia Syndrome	26
960	c	MYP098	Myopathy, Centronuclear, 4	26
961		LSN002	Loose Anagen Hair Syndrome	26
962		HYP160	Hyperkeratosis Lenticularis Perstans	26
963		WLL012	Williams-Beuren Region Duplication Syndrome	26
964	c	CLR125	Ciliary Dyskinesia, Primary, 33	26
965	P	MYM016	Moyamoya Angiopathy	26
966	P	PST016	Posterior Polar Cataract	26
967		PTY004	Pityriasis Lichenoides	26
968		PSD026	Pseudoainhum	26
969		NNT021	Neonatal Meningitis	26
970	c	PRK075	Porokeratosis 7, Multiple Types	26
971	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	26
972		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	26
973	c	KLP008	Klippel-Feil Syndrome 2, Autosomal Recessive	26
974	c	EPL207	Epilepsy, Progressive Myoclonic, 1b	26
975		AML011	Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2	26
976		STN013	Stenotrophomonas Maltophilia Infection	26
977	c	DBT054	Diabetes Mellitus, Insulin-Dependent, 24	26
978	c	CLR095	Ciliary Dyskinesia, Primary, 19	26
979		NRL008	Neural Crest Tumor	26
980		PLM189	Pulmonary Arterial Hypertension Associated with Connective Tissue Disease	26
981		IRN007	Irinotecan Toxicity	26
982	c	CTR180	Cataract 22, Multiple Types	26
983		PNT005	Pentalogy of Cantrell	26
984	c	CLR042	Ciliary Dyskinesia, Primary, 6	26
985		MYC021	Mycobacterium Xenopi	26
986	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	26
987		PTN004	Patent Ductus Venosus	26
988	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
989		ECT089	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia	26
990		GGN004	Gigantomastia	26
991		CBB002	Cobb Syndrome	26
992	c	HTR009	Heterotaxy, Visceral, 2, Autosomal	26
993		SKR001	Skraban-Deardorff Syndrome	26
994	c	RNG017	Ring Chromosome 21	26
995	c	BRG009	Brugada Syndrome 7	26
996	P	HRD207	Hereditary Transthyretin Amyloidosis	26
997		SNC001	Sunct Headache	26
998		HML052	Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency	26
999	c	CLR097	Ciliary Dyskinesia, Primary, 23	26
1000	c	TRS012	Trisomy 22	26
1001	c	PSD107	Pseudo-Torch Syndrome 2	26
1002		CNG506	Congenital Amyoplasia	26
1003		ACR099	Acrofacial Dysostosis, Catania Type	26
1004	P	PLM069	Pulmonary Venous Return Anomaly	26
1005		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	26
1006		CHR229	Chromosome 20p Duplication	26
1007	c	CLR134	Ciliary Dyskinesia, Primary, 3	26
1008	c	SPN098	Spinocerebellar Ataxia 25	26
1009	c	CLR123	Ciliary Dyskinesia, Primary, 37	26
1010		CNG489	Congenital Herpes Simplex Virus Infection	26
1011		EPP010	Epiphysiolysis of the Hip	26
1012		BRT037	Brittle Diabetes	26
1013		CRY010	Cryptophthalmos	25
1014		INV018	Invasive Mole	25
1015	c	CLR117	Ciliary Dyskinesia, Primary, 32	25
1016	c	NML025	Nemaline Myopathy 8	25
1017		DSM006	Desmoplastic Infantile Ganglioglioma	25
1018	c	RNG007	Ring Chromosome 12	25
1019		FGS002	Fg Syndrome 2	25
1020		PLM061	Pulmonary Edema of Mountaineers	25
1021		PRQ002	Paraquat Poisoning	25
1022		BLP041	Blepharochalasis and Double Lip	25
1023	c	WLL038	Weill-Marchesani Syndrome 3	25
1024	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	25
1025		RGH006	Right Aortic Arch	25
1026		FXC001	Foix Chavany Marie Syndrome	25
1027		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	25
1028		CRY030	Cryptophthalmos, Unilateral or Bilateral, Isolated	25
1029	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	25
1030	c	CRS017	Crisponi/cold-Induced Sweating Syndrome 2	25
1031		CRN128	Corneal Dystrophy, Endothelial, X-Linked	25
1032		CRN042	Carnosinemia	25
1033		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	25
1034		CHR190	Chromosome 12p Duplication	25
1035		FBR085	Fibrillary Glomerulonephritis	25
1036	c	CTR116	Cataract 15, Multiple Types	25
1037	c	MNS008	Monosomy 21	25
1038		HLP004	Holoprosencephaly, Recurrent Infections, and Monocytosis	25
1039	c	CLR135	Ciliary Dyskinesia, Primary, 7	25
1040		OBS168	Obsolete: Atypical Teratoid/rhabdoid Tumor	25
1041		PNT016	Pontoneocerebellar Hypoplasia	25
1042		ACR104	Acrofacial Dysostosis Syndrome of Rodriguez	25
1043		TRY004	Trypanosomiasis, Human East-African	25
1044		SRP002	Serpiginous Choroiditis	25
1045		HMN001	Human Monocytic Ehrlichiosis	25
1046	c	CLR116	Ciliary Dyskinesia, Primary, 29	25
1047		MYT026	Myotonia Atrophica	25
1048		HMP028	Hemophagocytic Syndrome Associated with an Infection	25
1049		PRT085	Peritoneal Cystic Mesothelioma	25
1050	c	SCK029	Seckel Syndrome 7	25
1051		BRR004	Baroreflex Failure	25
1052		MCR039	Macrophagic Myofasciitis	25
1053		HRP011	Herpes Zoster Ophthalmicus	25
1054		CTN016	Cutaneous Larva Migrans	25
1055		HSB001	His Bundle Tachycardia	25
1056		16Q001	16q24.3 Microdeletion Syndrome	25
1057		ADG002	Audiogenic Seizures	25
1058		CHR248	Chromosome 4p Duplication	25
1059	c	NML010	Nemaline Myopathy 7	25
1060	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	25
1061		TMF001	Tumefactive Multiple Sclerosis	25
1062	c	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	25
1063	c	PSD068	Pseudohypoaldosteronism, Type Iic	25
1064	P	TRS029	Trisomy 1q	25
1065	c	ANT010	Anterior Compartment Syndrome	25
1066	P	PHC014	Phocomelia	25
1067	P	PPL026	Papular Mucinosis	25
1068	c	SYS038	Systemic Lupus Erythematosus 2	25
1069		EXR007	Exercise-Induced Anaphylaxis	25
1070		ERY023	Erythroplakia	25
1071	P	PRC050	Pericardium Disease	25
1072	P	UNP013	Uniparental Disomy of Chromosome 1	25
1073		UND004	Undetermined Colitis	25
1074		STR029	Sternal Cleft	25
1075	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	25
1076	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	25
1077	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
1078	c	MYP119	Myopathy, Myofibrillar, 7	25
1079	P	ACR093	Acrofrontofacionasal Dysostosis	25
1080	c	PLY141	Polycystic Kidney Disease 5	25
1081	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	25
1082		RCK003	Rickettsialpox	25
1083		HYP213	Hypomelanotic Disorder	25
1084	P	BLT016	Bilateral Polymicrogyria	25
1085		NKJ001	Nakajo Syndrome	25
1086	c	CLR098	Ciliary Dyskinesia, Primary, 27	25
1087		BTT011	Butterfly-Shaped Pigment Dystrophy	25
1088		INS010	Insulin-Resistant Acanthosis Nigricans, Type a	25
1089	c	HYP576	Hypotrichosis 4	25
1090		CMB045	Combined Oxidative Phosphorylation Deficiency 19	25
1091	c	TRC071	Treacher Collins Syndrome 3	25
1092		SRN002	Sirenomelia	25
1093	c	RNG013	Ring Chromosome 18	25
1094	c	CLR104	Ciliary Dyskinesia, Primary, 15	25
1095		DSS025	Dissociative Seizures	25
1096		CYN003	Cyanide Poisoning	24
1097	c	FNG009	Feingold Syndrome 2	24
1098		CHR265	Chromosome 8p Duplication	24
1099	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	24
1100		GNR023	Generalized Eruptive Histiocytosis	24
1101	c	EPL203	Epilepsy, Familial Adult Myoclonic, 2	24
1102		LGP003	Logopenic Progressive Aphasia	24
1103	c	MLT093	Multiple Sclerosis 2	24
1104		GRD004	Gardner-Diamond Syndrome	24
1105	c	MLT060	Multiple Synostoses Syndrome 2	24
1106	c	BRG012	Brugada Syndrome 9	24
1107	c	ALT008	Alternating Hemiplegia of Childhood 1	24
1108	c	SHW007	Shwachman-Diamond Syndrome 2	24
1109		DRG016	Drug Induced Dyskinesia	24
1110	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	24
1111	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	24
1112	c	DBT034	Diabetes Mellitus, Insulin-Dependent, 20	24
1113		NNT018	Neonatal Herpes	24
1114		TRC037	Tracheobronchomalacia	24
1115	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	24
1116	c	CTR131	Cataract 17, Multiple Types	24
1117		CHR212	Chromosome 18p Duplication	24
1118	c	VND004	Van Der Woude Syndrome 2	24
1119	c	ALP099	Alopecia, Congenital	24
1120		DYS179	Dyssegmental Dysplasia, Rolland-Desbuquois Type	24
1121	P	ACR072	Acrorenal Syndrome	24
1122		ELC001	Elective Mutism	24
1123	c	CTR182	Cataract 23, Multiple Types	24
1124	c	CLR068	Ciliary Dyskinesia, Primary, 5	24
1125	c	CLR136	Ciliary Dyskinesia, Primary, 9	24
1126	P	STR035	Streptococcal Group a Invasive Disease	24
1127		OLG014	Oligocone Trichromacy	24
1128	c	JVN047	Juvenile Spondyloarthropathy	24
1129	c	CLR140	Ciliary Dyskinesia, Primary, 40	24
1130	c	CTR111	Cataract 36	24
1131		PHS010	Phosphoglycerate Mutase Deficiency	24
1132		NN2002	Non 24 Hour Sleep Wake Disorder	24
1133		SHP003	Shapiro Syndrome	24
1134	P	NNT006	Neonatal Myasthenia Gravis	24
1135	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	24
1136		NCL007	Nuclear Gene-Encoded Leigh Syndrome	24
1137		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	24
1138		EF001	Eaf	24
1139		NCR014	Necrotizing Soft Tissue Infection	24
1140	c	CTR124	Cataract 10, Multiple Types	24
1141		CHR209	Chromosome 17p Duplication	24
1142		PNL023	Penile Agenesis	24
1143	c	CLR091	Ciliary Dyskinesia, Primary, 14	24
1144		HRN018	Hearing Loss, Cisplatin-Induced	24
1145		MRN005	Marie Unna Congenital Hypotrichosis	24
1146	c	CTR165	Cataract 19, Multiple Types	24
1147	c	EPS034	Episodic Ataxia, Type 5	24
1148		ACT239	Acetyl-Coa Acetyltransferase-2 Deficiency	24
1149		OVR098	Ovarian Fibroma	24
1150	c	MLG148	Malignant Hyperthermia 2	24
1151	c	ATX024	Ataxia-Oculomotor Apraxia 3	24
1152	c	ERL003	Early Onset Absence Epilepsy	24
1153	c	CLR099	Ciliary Dyskinesia, Primary, 16	24
1154	c	RNG021	Ring Chromosome 5	24
1155		OBS635	Obsolete: Laryngeal Dyskinesia	24
1156		PTR034	Paternal Uniparental Disomy	24
1157	c	GNR034	Generalized Epilepsy with Febrile Seizures Plus, Type 9	24
1158		KR001	Koro	24
1159	c	CHR565	Chromosomal Deletion Syndrome	24
1160		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	24
1161	c	CLR092	Ciliary Dyskinesia, Primary, 18	24
1162		RTR012	Retroperitoneal Liposarcoma	24
1163	c	EPL103	Epilepsy, Familial Adult Myoclonic, 5	24
1164	c	SCH053	Schizophrenia 13	24
1165		GNT043	Genitopalatocardiac Syndrome	24
1166	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	24
1167		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	24
1168	c	MYP118	Myopathy, Myofibrillar, 8	24
1169	c	CTR105	Cataract 12, Multiple Types	24
1170		AML005	Amelogenesis Imperfecta Hypomaturation Type	24
1171	c	ATS432	Autosomal Dominant Distal Myopathy	24
1172		CMP092	Complement Component 8 Deficiency, Type Ii	24
1173	c	SCH075	Schizophrenia 19	24
1174		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	24
1175	P	QLT011	Qualitative or Quantitative Defects of Sarcoglycan	24
1176		IGG008	Igg4-Related Mesenteritis	24
1177		TRG006	Trigger Thumb	24
1178		INT277	Intellectual Disability-Developmental Delay-Contractures Syndrome	24
1179	P	PRK067	Porokeratosis 8, Disseminated Superficial Actinic Type	24
1180	c	ADL080	Adult Acute Respiratory Distress Syndrome	24
1181		DPS001	Dipsogenic Diabetes Insipidus	24
1182		CNG092	Congenital Extrahepatic Portosystemic Shunt	24
1183	c	CLR105	Ciliary Dyskinesia, Primary, 20	24
1184		GRH005	Graham-Little-Piccardi-Lassueur Syndrome	24
1185	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	24
1186		ULC008	Ulcerative Proctitis	24
1187	c	SPS027	Spastic Paraplegia 17	24
1188	c	PRT063	Proteus-Like Syndrome	24
1189	c	RNG024	Ring Chromosome 8	23
1190	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	23
1191		LKN007	Leukonychia Totalis	23
1192	c	WSK002	Wiskott-Aldrich Syndrome 2	23
1193	c	RTS002	Ritscher-Schinzel Syndrome 2	23
1194		INC004	Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia	23
1195		PSD030	Pseudodiastrophic Dysplasia	23
1196		CHR621	Chromosome 16p11.2 Deletion Syndrome, 593-Kb	23
1197		KLB005	Kleeblattschaedel	23
1198	P	TRC034	Torch Syndrome	23
1199	c	CTR136	Cataract 41	23
1200		SDD004	Sudden Arrhythmia Death Syndrome	23
1201	P	ART034	Aortopulmonary Window	23
1202	c	LTH039	Lethal Congenital Contracture Syndrome 11	23
1203	c	CTR110	Cataract 26, Multiple Types	23
1204	c	SYN088	Synpolydactyly 2	23
1205	c	LNG046	Long Qt Syndrome 11	23
1206	c	CLR059	Ciliary Dyskinesia, Primary, 13	23
1207	c	PLT022	Pili Torti, Early-Onset	23
1208		DBL004	Double Discordia	23
1209	c	SCH045	Schizophrenia 12	23
1210	c	NML021	Nemaline Myopathy 9	23
1211	c	JVN015	Juvenile Huntington Disease	23
1212		MNC020	Monoclonal Mast Cell Activation Syndrome	23
1213	c	HYP833	Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	23
1214	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	23
1215	c	HTR018	Heterotaxy, Visceral, 7, Autosomal	23
1216	P	PLM064	Pulmonary Sequestration	23
1217		TTR027	Tetrasomy 15q26	23
1218		CHR208	Chromosome 17p Deletion	23
1219	c	GNR020	Gne-Related Myopathy	23
1220	c	CLR102	Ciliary Dyskinesia, Primary, 17	23
1221	c	CTR183	Cataract 38	23
1222	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	23
1223		PHS028	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	23
1224	c	RTN032	Retinal Cone Dystrophy 1	23
1225		ABR001	Aberrant Subclavian Artery	23
1226		FNC050	Functioning Gonadotropic Adenoma	23
1227	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	23
1228		PRX086	Paroxysmal Exertion-Induced Dyskinesia	23
1229		CCN009	Cocaine Intoxication	23
1230		JMP002	Jumping Frenchmen of Maine	23
1231	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	23
1232		MNR004	Mounier-Kuhn Syndrome	23
1233	c	HTR023	Heterotaxy, Visceral, 6, Autosomal	23
1234		PRP090	Peripheral Dysostosis	23
1235	c	WRD022	Waardenburg Syndrome, Type 2d	23
1236		PRX096	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum	23
1237	c	DBT038	Diabetes Mellitus, Insulin-Dependent, 5	23
1238		SCH055	Schilbach-Rott Syndrome	23
1239		WLD006	Wild Type Abeta2m Amyloidosis	23
1240	P	RTN102	Retinitis Pigmentosa, Y-Linked	23
1241		ORF053	Orofacial Clefting Syndrome	23
1242	c	SCH083	Schizophrenia 7	23
1243		HVY002	Heavy Metal Poisoning	23
1244	c	SCK037	Seckel Syndrome 9	23
1245	c	DBT094	Diabetes Mellitus, Insulin-Dependent, 10	23
1246		CHR247	Chromosome 4p Deletion	23
1247		CNG418	Congenital Intrauterine Infection-Like Syndrome	23
1248		HYP181	Hypertrichosis Lanuginosa, Acquired	23
1249	c	CLR107	Ciliary Dyskinesia, Primary, 24	23
1250	c	CTR125	Cataract 7	23
1251	c	CLR106	Ciliary Dyskinesia, Primary, 26	23
1252		CMB052	Combined Oxidative Phosphorylation Deficiency 20	23
1253	c	CLR139	Ciliary Dyskinesia, Primary, 39	23
1254	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	23
1255		VBR003	Vibrio Vulnificus Infection	23
1256		ISL135	Isolated Dystonia	23
1257		ART109	Arterial Thoracic Outlet Syndrome	23
1258	c	EPL201	Epilepsy, Familial Adult Myoclonic, 1	23
1259		MYP104	Myopathy, Vacuolar, with Casq1 Aggregates	23
1260	c	SCK038	Seckel Syndrome 10	23
1261		DMD001	Demodicidosis	23
1262	P	ACR020	Acropectorovertebral Dysplasia	23
1263		PRX034	Peroxisome Disorders	23
1264		TMP008	Tempi Syndrome	22
1265		INT093	Interferon Gamma, Receptor 1, Deficiency	22
1266		EPL011	Epilepsy, Benign Occipital	22
1267		AXL004	Axial Mesodermal Dysplasia Spectrum	22
1268		MYC016	Mycobacterium Gordonae	22
1269		OBS507	Obsolete: Small Pox	22
1270	c	EPS037	Episodic Ataxia, Type 4	22
1271	c	FCL056	Facial Paresis, Hereditary Congenital, 3	22
1272	c	ATS438	Autosomal Recessive Spastic Ataxia	22
1273		PRL021	Perilymphatic Fistula	22
1274		OBS529	Obsolete: Combined Hyperlipidemia	22
1275		LPY002	Lipoyltransferase 1 Deficiency	22
1276		CRN266	Craniofacial Dyssynostosis with Short Stature	22
1277		OCL070	Oculopalatocerebral Syndrome	22
1278		RDL022	Radial Hemimelia	22
1279		MTC036	Mitochondrial Membrane Protein-Associated Neurodegeneration	22
1280		CGN001	Cogan-Reese Syndrome	22
1281	c	CTR162	Cataract 47	22
1282	c	CLR054	Ciliary Dyskinesia, Primary, 12	22
1283		RFS003	Refsum Disease, Infantile Form	22
1284		PRG110	Progressive Encephalomyelitis with Rigidity and Myoclonus	22
1285	P	OTP002	Otopalatodigital Spectrum Disorders	22
1286		PLL009	Pellucid Marginal Degeneration	22
1287		LRY028	Laryngocele	22
1288	c	CTR169	Cataract 29	22
1289		GRW021	Growing Teratoma Syndrome	22
1290		DYS038	Dysgnathia Complex	22
1291	c	RNG019	Ring Chromosome 3	22
1292	c	CLR053	Ciliary Dyskinesia, Primary, 11	22
1293	c	ACR103	Acrofrontofacionasal Dysostosis 1	22
1294		CHR243	Chromosome 3p Deletion	22
1295		HML018	Homologous Wasting Disease	22
1296	c	CTR184	Cataract 39, Multiple Types	22
1297		PST040	Posterior Column Ataxia	22
1298	c	CNG514	Congenital Radioulnar Synostosis	22
1299	c	BRG008	Brugada Syndrome 6	22
1300		LMB009	Lambdoid Synostosis	22
1301	c	GLC054	Glaucoma 3, Primary Congenital, D	22
1302		HYP690	Hyper-Beta-Alaninemia	22
1303	c	SYS040	Systemic Lupus Erythematosus 10	22
1304	P	ERL043	Early-Onset Nuclear Cataract	22
1305	c	MCL073	Macular Dystrophy, Vitelliform, 1	22
1306		ISL116	Isolated Complex Iii Deficiency	22
1307	c	ADL068	Adult-Onset Nemaline Myopathy	22
1308	c	CLR101	Ciliary Dyskinesia, Primary, 25	22
1309		ETH012	Ethylene Glycol Poisoning	22
1310		DSS022	Disseminated Peritoneal Leiomyomatosis	22
1311	c	DBT082	Diabetes Mellitus, Insulin-Dependent, 12	22
1312	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	22
1313	c	CLR088	Ciliary Dyskinesia, Primary, 21	22
1314	c	ACR105	Acrofrontofacionasal Dysostosis 2	22
1315	c	ICH014	Ichthyosis Lamellar 1	22
1316	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	22
1317	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	22
1318	c	CLR056	Ciliary Dyskinesia, Primary, 10	22
1319		ADS015	Aids Wasting Syndrome	22
1320		HYP524	Hypoinsulinemic Hypoglycemia with Hemihypertrophy	22
1321		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	22
1322		MDL024	Madelung Deformity	22
1323		NWD001	New Daily-Persistent Headache	22
1324	c	CLR138	Ciliary Dyskinesia, Primary, 38	22
1325		PSD043	Pseudopelade of Brocq	22
1326		MYP060	Myopic Macular Degeneration	22
1327		CGH002	Cough Headache	22
1328	c	CLR126	Ciliary Dyskinesia, Primary, 35	22
1329	c	CTR187	Cataract 48	22
1330		OBS097	Obsolete: Heinz Body Anemia	22
1331	c	HYP578	Hypotrichosis 12	22
1332		ERY043	Euryblepharon	22
1333	c	HYP832	Hypotrichosis 14	22
1334		BNT001	Banti's Syndrome	22
1335	P	QLT041	Qualitative or Quantitative Defects of Alpha-Dystroglycan	22
1336	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	22
1337		MNS012	Monostotic Fibrous Dysplasia	22
1338	c	PSD047	Pseudo-Turner Syndrome	22
1339	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	22
1340		CMB051	Combined Oxidative Phosphorylation Deficiency 21	22
1341	c	FBR079	Fibromatosis, Gingival, 2	21
1342		INT095	Internal Carotid Agenesis	21
1343	P	RTN220	Retinal Ciliopathy	21
1344		MTC115	Mitochondrial Myopathy, Lethal, Infantile	21
1345		MLT173	Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability	21
1346	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	21
1347	c	GNS004	Geniospasm 1	21
1348		PRN068	Paraneoplastic Limbic Encephalitis	21
1349	c	INF186	Infectious Encephalitis	21
1350	c	SYS046	Systemic Lupus Erythematosus 3	21
1351		LPS019	Lupus Erythematosus Tumidus	21
1352		HTR005	Heterochromia Iridis	21
1353	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	21
1354		CGT001	Ciguatera Fish Poisoning	21
1355		ATR052	Atrophic Lichen Planus	21
1356	c	CTR163	Cataract 46, Juvenile-Onset	21
1357		DST011	Distal Chromosome 18q Deletion Syndrome	21
1358		SPS087	Spasmus Nutans	21
1359	c	MLG149	Malignant Hyperthermia 3	21
1360	c	PRM200	Primary Fanconi Syndrome	21
1361		RCK009	Rickettsial Disease	21
1362	P	SCN067	Scn1a Seizure Disorders	21
1363		PLR024	Pilarowski-Bjornsson Syndrome	21
1364	c	SPS198	Spastic Paraplegia 16, X-Linked	21
1365		SCH024	Schinzel Giedion Syndrome	21
1366		FNT003	Fountain Syndrome	21
1367		CMB039	Combined Pulmonary Fibrosis-Emphysema Syndrome	21
1368	c	MYS048	Myasthenic Syndrome, Congenital, 3a, Slow-Channel	21
1369		SCD003	Scedosporiosis	21
1370	c	SYS053	Systemic Lupus Erythematosus 5	21
1371		MTC144	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	21
1372	c	MLG150	Malignant Hyperthermia 4	21
1373	c	STC007	Stickler Syndrome, Type 3	21
1374		QLT002	Qualitative or Quantitative Defects of Dystrophin	21
1375		URT052	Urticaria, Aquagenic	21
1376		KRB005	Krabbe Disease, Atypical, Due to Saposin a Deficiency	21
1377	c	MRD001	Marden Walker Like Syndrome	21
1378	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	21
1379	c	SPS023	Spastic Paraplegia 13	21
1380	P	CTS012	Cutis Verticis Gyrata	21
1381		CRT060	Cor Triatriatum Sinister	21
1382		GLC025	Galactorrhoea-Hyperprolactinaemia	21
1383	c	ANR027	Aneurysm, Intracranial Berry, 1	21
1384		CLC053	Colchicine Poisoning	21
1385		OVR108	Ovarian Sex Cord Tumor with Annular Tubules	21
1386		MTR027	Mitral Atresia	21
1387	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	21
1388	c	SCK033	Seckel Syndrome 8	21
1389		NTH002	Nathalie Syndrome	21
1390	c	MCL061	Macular Dystrophy, Vitelliform, 4	21
1391	c	CHR692	Chronic Encephalitis	21
1392		BRN126	Brenner Tumor of Ovary	21
1393		NDD001	Nodding Syndrome	21
1394	c	HTR020	Heterotaxy, Visceral, 8, Autosomal	21
1395		ECT085	Ectopia Cordis	21
1396		SGL002	Sagliker Syndrome	21
1397	c	CLR124	Ciliary Dyskinesia, Primary, 34	21
1398	P	STR111	Stromal Corneal Dystrophy	21
1399		DSS012	Disseminated Infection with Mycobacterium Avium Complex	21
1400		GNR033	Generalized Eruptive Keratoacanthoma	21
1401	c	IDP012	Idiopathic Acute Eosinophilic Pneumonia	21
1402		TLN007	Telangiectasia, Hereditary Benign	21
1403	c	RSM003	Rasmussen Subacute Encephalitis	21
1404	c	SYS069	Systemic Lupus Erythematosus 6	21
1405		PLY039	Polymorphic Reticulosis	21
1406		ACR107	Acrofacial Dysostosis, Palagonia Type	21
1407	P	RDC012	Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset	21
1408		DPR014	Diprosopus	21
1409		TRH001	Trehalase Deficiency	21
1410		EPL138	Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp	21
1411		MSM019	Mesomelic Dysplasia, Savarirayan Type	21
1412		ADN085	Adenylate Kinase Deficiency, Hemolytic Anemia Due to	21
1413	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	21
1414	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	21
1415		HPS001	Hip Subluxation	20
1416	c	EXS021	Exostoses, Multiple, Type Iii	20
1417		RFM002	Roifman-Chitayat Syndrome	20
1418	c	SYM019	Symphalangism, Proximal, 1b	20
1419		2Q3001	2q37 Deletion Syndrome	20
1420	c	MCL056	Macular Dystrophy, Vitelliform, 5	20
1421	c	CRB168	Cerebroretinal Microangiopathy with Calcifications and Cysts 2	20
1422		BLL015	Bullous Lichen Planus	20
1423		CYT017	Cytophagic Histiocytic Panniculitis	20
1424	c	MLT124	Multiple Sclerosis 5	20
1425	c	CHR688	Chronic Acquired Demyelinating Polyneuropathy	20
1426		UNL013	Unilateral Absence of a Pulmonary Artery	20
1427	c	CTR144	Cataract 43	20
1428	c	RNG025	Ring Chromosome 9	20
1429	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	20
1430		STR033	Storm Syndrome	20
1431		NND001	Nondystrophic Myotonia	20
1432	c	SYS051	Systemic Lupus Erythematosus 4	20
1433		PYT001	Pythiosis	20
1434		PST047	Post-Traumatic Epilepsy	20
1435	c	CTR159	Cataract 35	20
1436		ATR053	Atresia of Urethra	20
1437	c	SCH052	Schizophrenia 14	20
1438	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	20
1439		RTH002	Rutherfurd Syndrome	20
1440	c	CTR097	Cataract 34, Multiple Types	20
1441	c	ART131	Arthrogryposis, Distal, Type 4	20
1442	c	MCR272	Microcephaly and Chorioretinopathy, Autosomal Recessive, 3	20
1443	c	CTR185	Cataract 30	20
1444	c	ZMM003	Zimmermann-Laband Syndrome 2	20
1445		CRT061	Cor Triatriatum Dexter	20
1446		KRT020	Keratoconus Posticus Circumscriptus	20
1447	c	RNG012	Ring Chromosome 17	20
1448		RTC007	Reticular Perineurioma	20
1449		MSC017	Mosaic Trisomy 22	20
1450		CMB063	Combined Oxidative Phosphorylation Deficiency 25	20
1451	c	SYS041	Systemic Lupus Erythematosus 9	20
1452	c	CTR106	Cataract 20, Multiple Types	20
1453		CDL006	Caudal Regression Sequence	20
1454	c	WHT015	White Sponge Nevus 2	20
1455		LKN005	Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema	20
1456	c	SPN102	Spinocerebellar Ataxia 30	20
1457		CRN126	Corneal Dystrophy, Lisch Epithelial	20
1458		SPS090	Sepsis in Premature Infants	20
1459	c	MTP014	Metaphyseal Anadysplasia 2	20
1460		ART056	Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay	20
1461	c	CRS018	Crisponi/cold-Induced Sweating Syndrome 3	20
1462		DHY008	Dihydroxyadeninuria	20
1463		CRN076	Crane-Heise Syndrome	20
1464		8PN001	8p Inverted Duplication/deletion Syndrome	20
1465		AND005	Androgen Insensitivity Syndrome, Mild	20
1466	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	20
1467	c	CTR139	Cataract 42	20
1468	c	NNT025	Neonatal Systemic Lupus Erythematosus	20
1469	P	CNG515	Congenital Zika Syndrome	20
1470	c	EPL217	Epilepsy, Juvenile Myoclonic 10	20
1471		16P002	16p11.2 Deletion Syndrome	20
1472		MRF007	Marfanoid Hypermobility Syndrome	20
1473		CHR369	Chromosome Xq28 Duplication Syndrome	20
1474		HRP026	Herpetiform Pemphigus	20
1475		CRB072	Cerebral Palsy Athetoid	20
1476	c	CHR686	Chronic Cutaneous Lupus Erythematosus	19
1477		SPN092	Spinal Shock	19
1478	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	19
1479	c	SCK032	Seckel Syndrome 6	19
1480		HMH003	Hemihyperplasia-Multiple Lipomatosis Syndrome	19
1481		SPN349	Spondylometaphyseal Dysplasia, Type A4	19
1482		GLC039	Glucosephosphate Isomerase Deficiency	19
1483		RTN170	Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities	19
1484		ALP088	Alpha-Fetoprotein, Hereditary Persistence of	19
1485	c	WRD029	Waardenburg Syndrome, Type 2b	19
1486	c	MLG152	Malignant Hyperthermia 6	19
1487		BRC100	Brachydactyly, Combined B and E Types	19
1488		DBL007	Double Outlet Left Ventricle	19
1489		FRN028	Furunculous Myiasis	19
1490	c	INF047	Infantile Free Sialic Acid Storage Disease	19
1491		MXD035	Mixed-Type Autoimmune Hemolytic Anemia	19
1492	c	HYP528	Hypotrichosis 11	19
1493		EPG004	Epignathus	19
1494		LPS018	Lupus Erythematosus Panniculitis	19
1495		FCC003	Faciocardiomelic Dysplasia, Lethal	19
1496	c	CHR227	Chromosome 20 Trisomy	19
1497		CHR241	Chromosome 2q24 Microdeletion Syndrome	19
1498	c	ATS454	Autosomal Trisomy	19
1499		CMB079	Combined Oxidative Phosphorylation Deficiency 29	19
1500		ISN001	Isoniazid Toxicity	19
1501		SMC003	Semicircular Canal Dehiscence Syndrome	19
1502	c	RNG006	Ring Chromosome 11	19
1503	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	19
1504	c	PRM150	Primary Localized Amyloidosis	19
1505	c	SCN048	Secondary Syringomyelia	19
1506		BDR001	Bidirectional Tachycardia	19
1507	c	PRK074	Porokeratosis 9, Multiple Types	19
1508		LVT001	Levator Syndrome	19
1509		LWF001	Low-Flow Priapism	19
1510	c	MLT095	Multiple Sclerosis 4	19
1511		EGL001	Eagle Syndrome	19
1512	c	DBT056	Diabetes Mellitus, Insulin-Dependent, 4	19
1513	c	FCL030	Facial Paresis, Hereditary Congenital, 1	19
1514		CLT002	Cluttering	19
1515		MDS024	Mediastinal Endodermal Sinus Tumors	19
1516	c	TRM020	Tremor, Hereditary Essential, 2	19
1517	c	SCH061	Schizophrenia 16	19
1518		MLN084	Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation	19
1519		ISL082	Isolated Atp Synthase Deficiency	19
1520		BRH001	Boerhaave Syndrome	19
1521		MLG087	Malignant Cylindroma	19
1522		HYD031	Hydroxyprolinemia	19
1523		THN005	Thunderclap Headache	19
1524		TRN067	Transcobalamin I Deficiency	19
1525	c	CTR160	Cataract 45	19
1526		CRB161	Cerebellar Ataxia and Ectodermal Dysplasia	19
1527		CLF021	Cleft Palate X-Linked	19
1528		PRD026	Pre-Descemet Corneal Dystrophy	19
1529	c	SCH086	Schizophrenia 11	19
1530		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	19
1531		HNH001	Hanhart Syndrome	19
1532		LNR010	Linear Lichen Planus	19
1533		ODN020	Odontoma-Dysphagia Syndrome	19
1534		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	19
1535	c	CTR121	Cataract 25	19
1536		BMF002	Bamforth Syndrome	19
1537		SBR012	Subaortic Stenosis, Membranous	19
1538	c	EPL053	Epilepsy, Familial Adult Myoclonic, 3	19
1539	c	EPS033	Episodic Ataxia, Type 8	19
1540		PRM331	Primary Hypophysitis	19
1541	c	CNG336	Congenital Analbuminemia	19
1542	c	ATS450	Autosomal Recessive Severe Congenital Neutropenia	19
1543	c	UNP012	Uniparental Disomy of Chromosome 7	19
1544		OCL071	Oculocerebral Hypopigmentation Syndrome of Preus	19
1545		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	19
1546	c	KLP006	Klippel-Feil Syndrome 3, Autosomal Dominant	19
1547		CRV062	Cervical Spina Bifida Cystica	19
1548		IGG009	Igg4-Related Ophthalmic Disease	19
1549		ISL067	Isolated Congenital Megalocornea	19
1550		MLT131	Multifocal Atrial Tachycardia	19
1551	c	CNG121	Congenital Pulmonary Alveolar Proteinosis	19
1552		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	19
1553		IQS001	Iqsec2	19
1554		CYT006	Cytoplasmic Body Myopathy	19
1555		SPN133	Spondyloepimetaphyseal Dysplasia with Multiple Dislocations	19
1556		EXT061	Extracardiac Rhabdomyoma	19
1557		PRR029	Pierre Robin Syndrome and Oligodactyly	19
1558	c	GNR046	Generalized Epilepsy with Febrile Seizures Plus, Type 10	19
1559	c	EPS014	Episodic Ataxia, Type 3	19
1560	c	RPP007	Rippling Muscle Disease 1	19
1561		CRB164	Cerebrooculonasal Syndrome	19
1562	c	SPS022	Spastic Paraplegia 12	19
1563		SVR060	Severe X-Linked Intellectual Disability, Gustavson Type	19
1564		IDP067	Idiopathic Hemiconvulsion-Hemiplegia Syndrome	19
1565		LGR001	Laugier-Hunziker Syndrome	18
1566	c	GLC089	Glaucoma 3, Primary Congenital, E	18
1567	c	NYS003	Nystagmus 2, Congenital, Autosomal Dominant	18
1568		MCR330	Microphthalmia, Isolated, with Cataract 1	18
1569		TRT005	Teratoma with Malignant Transformation	18
1570		ATS012	Autosomal Dominant Partial Epilepsy with Auditory Features	18
1571		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	18
1572	c	PLY066	Polyposis Syndrome, Hereditary Mixed, 2	18
1573	c	CNG579	Congenital Nemaline Myopathy	18
1574		STR007	Stress Polycythemia	18
1575		BNG086	Bangstad Syndrome	18
1576		ICH025	Ichthyosis, Follicular	18
1577	c	SPS028	Spastic Paraplegia 18	18
1578		OCL057	Oculotrichodysplasia	18
1579		TRC052	Trichofolliculoma	18
1580		UNL015	Unilateral Aplasia of the Mullerian Ducts	18
1581		RTN185	Retinal Dysplasia, Primary	18
1582		DYT005	Dyt-Thap1	18
1583		VNZ001	Venezuelan Hemorrhagic Fever	18
1584		GLT036	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to	18
1585		HHV001	Hhv-6 Encephalitis	18
1586		AMY010	Amyloidosis Beta2m	18
1587		TLN012	Telangiectasia Macularis Eruptiva Perstans	18
1588	c	ANM039	Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	18
1589		ALP072	Alpha-Fetoprotein Deficiency	18
1590	c	NNN032	Non-Infectious Posterior Uveitis	18
1591		HYD050	Hydrocephalus, Endocardial Fibroelastosis, and Cataracts	18
1592		SWY003	Swyer-James Syndrome	18
1593	c	SCH084	Schizophrenia 8	18
1594		QLT009	Qualitative or Quantitative Defects of Caveolin-3	18
1595	c	ATS419	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations	18
1596		DYS189	Dyskinesia, Seizures, and Intellectual Developmental Disorder	18
1597		CTM001	Catamenial Pneumothorax	18
1598		CMP069	Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome	18
1599	P	HRD043	Hereditary Congenital Facial Paresis	18
1600	c	ATS461	Autosomal Dominant Cerebellar Ataxia Type I	18
1601		NNF008	Non-Functioning Paraganglioma	18
1602	c	TRN062	Transient Neonatal Myasthenia Gravis	18
1603		RTC011	Reticular Dystrophy of Retinal Pigment Epithelium	18
1604		CNT088	Central Cloudy Dystrophy of Francois	18
1605		HYP638	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	18
1606		GND015	Gonadal Germ Cell Tumor	18
1607		GLM036	Gliomatosis Peritonei	18
1608		PNH004	Panhypophysitis	18
1609		HMF007	Hemifacial Hyperplasia with Strabismus	18
1610		MYX011	Myxozoa	18
1611	c	JVN060	Juvenile Idiopathic Inflammatory Myopathy	18
1612		MYS028	Myospherulosis	18
1613	P	CNG070	Congenital Dislocation of the Patella	18
1614		1QD001	1q Duplications	18
1615	c	SYS065	Systemic Lupus Erythematosus 11	18
1616		JCK003	Jackhammer Esophagus	18
1617		PSD079	Pseudoangiomatous Stromal Hyperplasia	18
1618		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	18
1619	c	CLR141	Ciliary Dyskinesia, Primary, 41	18
1620	P	CLD004	Cold-Induced Sweating Syndrome Including Crisponi Syndrome	18
1621		HRD044	Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke	18
1622		LMB056	Lumbosacral Spina Bifida Cystica	18
1623		FCD002	Faciodigitogenital Syndrome, Autosomal Recessive	18
1624		CHL084	Cholesterol Pneumonia	18
1625	P	PCS003	Pacs1 Syndrome	18
1626	c	CTR178	Cataract 27	18
1627		THM005	Thumb Deformity	18
1628	c	CHR344	Chronic Orthostatic Intolerance	18
1629		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	18
1630		CCC003	Coccygodynia	18
1631	P	DNS004	Duane Syndrome Type 2	18
1632		VNT036	Ventilator-Induced Diaphragmatic Dysfunction	18
1633		MCR307	Microspherophakia-Metaphyseal Dysplasia	18
1634	c	NYS005	Nystagmus 4, Congenital, Autosomal Dominant	18
1635	c	CTR157	Cataract 28	18
1636		VLV046	Vulvovaginal Gingival Syndrome	18
1637		PRM157	Primary Progressive Freezing Gait	18
1638	c	SPS034	Spastic Paraplegia 26	18
1639		CTN020	Cutaneous Sclerosis	18
1640		GLY074	Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset	18
1641	c	JVN045	Juvenile Ossifying Fibroma	18
1642		RMT001	Remitting Seronegative Symmetrical Synovitis with Pitting Edema	18
1643	P	ATS469	Autosomal Monosomy	18
1644		CTN034	Cutaneous Myiasis	18
1645		OTN001	Otoonychoperoneal Syndrome	18
1646		XLN215	X-Linked Congenital Generalized Hypertrichosis	18
1647	c	PCS002	Pacs1-Related Syndrome	18
1648		DST059	Distal Trisomy 17q	18
1649		STN005	St Anthony's Fire	18
1650		MTH011	Methionine Adenosyltransferase Deficiency	18
1651		ICH011	Ichthyosis Follicularis Atrichia Photophobia Syndrome	18
1652		TRP010	Treponema Infection	18
1653	P	17Q010	17q12 Deletion Syndrome	18
1654		HRR005	Harrod Syndrome	18
1655		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	17
1656	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	17
1657	c	SYN040	Synpolydactyly 3	17
1658	c	CHR147	Charcot-Marie-Tooth Disease Type 2k	17
1659		MCR317	Macrophthalmia, Colobomatous, with Microcornea	17
1660		ABS020	Absent Eyebrows and Eyelashes with Mental Retardation	17
1661		HMR013	Hemorrhagic Proctocolitis	17
1662	c	DVL011	Developmental Dysplasia of the Hip 2	17
1663		ISL085	Isolated Agammaglobulinemia	17
1664		CHR612	Chromosome 15q14 Deletion Syndrome	17
1665	c	INF055	Infectious Myocarditis	17
1666		MD1003	Med13l Haploinsufficiency Syndrome	17
1667		RDT004	Radiation Induced Brachial Plexopathy	17
1668		CLS032	Clostridium Perfringens Infection	17
1669		ORN004	Ornithinemia	17
1670	c	LTY001	Late Yaws	17
1671		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	17
1672	c	NYS004	Nystagmus 3, Congenital, Autosomal Dominant	17
1673	P	NDL017	Nodular Cutaneous Amyloidosis	17
1674	c	DBT057	Diabetes Mellitus, Insulin-Dependent, 6	17
1675	c	SPR070	Sporadic Infantile Bilateral Striatal Necrosis	17
1676		CHR184	Chromosome 10q Duplication	17
1677	c	DBT059	Diabetes Mellitus, Insulin-Dependent, 8	17
1678	c	PRK084	Porokeratosis 6, Multiple Types	17
1679		PNT023	Pontine Hemorrhage	17
1680		WND005	Wound Myiasis	17
1681		RSM002	Rasmussen Johnsen Thomsen Syndrome	17
1682	c	DBT032	Diabetes Mellitus, Insulin-Dependent, 22	17
1683		ILL003	Illum Syndrome	17
1684		HYP696	Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome	17
1685		THR085	Thoracolumbosacral Spina Bifida Aperta	17
1686	c	HYP573	Hypotrichosis 5	17
1687	P	CNG600	Congenital Arteriovenous Fistula	17
1688	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	17
1689		SPR072	Superficial Pemphigus	17
1690		ERY050	Erythema Palmare Hereditarium	17
1691		CLM004	Climatic Droplet Keratopathy	17
1692		MSC081	Mosaic Trisomy 15	17
1693		GRW033	Growth Retardation, Small and Puffy Hands and Feet, and Eczema	17
1694		TRC114	Trichodental Dysplasia	17
1695		17Q011	17q12 Duplication	17
1696		ACN013	Acanthocheilonemiasis	17
1697	P	PYR006	Pyridoxine-Responsive Sideroblastic Anemia	17
1698		PPL053	Papillomatosis, Florid, of Nipple	17
1699		OBS199	Obsolete: Sakati-Nyhan Syndrome	17
1700		BRC046	Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia	17
1701		CHR257	Chromosome 6q Deletion	17
1702		CRV066	Cervical Aortic Arch	17
1703	c	RNG014	Ring Chromosome 19	17
1704		KNS006	Kniest-Like Dysplasia, Lethal	17
1705	c	FND006	Fundus Dystrophy, Pseudoinflammatory, Recessive Form	17
1706	c	CTR128	Cataract 33	17
1707		ALN006	Alien Hand Syndrome	17
1708	c	CRN298	Carney Complex, Type 2	17
1709		PRX013	Proximal Chromosome 18q Deletion Syndrome	17
1710	c	PRM188	Primary Cutis Verticis Gyrata	17
1711		SPR065	Supernumerary Nostril	17
1712	c	DBT053	Diabetes Mellitus, Insulin-Dependent, 23	17
1713	c	RNG011	Ring Chromosome 16	17
1714	c	UNP011	Uniparental Disomy of Chromosome 14	17
1715	c	BNG001	Benign Peritoneal Mesothelioma	17
1716		MCR279	Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	17
1717		HNT017	Hunter-Mcalpine Craniosynostosis Syndrome	17
1718		CRN287	Carnitine Deficiency, Myopathic	17
1719		MSM018	Mesomelic Limb Shortening and Bowing	17
1720		SLT007	Solitary Rectal Ulcer Syndrome	17
1721		RDR002	Rodrigues Blindness	17
1722		CMM018	Common Mesentery	17
1723		SYR004	Syringobulbia	17
1724	P	PSD036	Pseudoinflammatory Fundus Dystrophy	17
1725	c	SPN107	Spinocerebellar Ataxia 9	17
1726		ANL019	Anal Sphincter Dysplasia	17
1727		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	16
1728		APD001	Apo a-I Deficiency	16
1729		CLF034	Cleft Hard Palate	16
1730	c	WRD026	Waardenburg Syndrome, Type 2c	16
1731		ATY045	Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality	16
1732		CLD006	Cleidorhizomelic Syndrome	16
1733		EMR002	Emerinopathy	16
1734		DBL010	Double-Orifice Mitral Valve	16
1735		HYP171	Hyperphenylalaninemia Due to Dehydratase Deficiency	16
1736	c	SYS055	Systemic Lupus Erythematosus 12	16
1737		ANP032	Anaplastic Pleomorphic Xanthoastrocytoma	16
1738		RGH003	Right Ventricle Hypoplasia	16
1739		THM025	Thumbs, Congenital Clasped	16
1740	c	CLR069	Ciliary Dyskinesia, Primary, 8	16
1741		ADN078	Adnp Syndrome	16
1742		CRN224	Craniofaciofrontodigital Syndrome	16
1743		MSM003	Mesomelia	16
1744		OBS172	Obsolete: Solitary Median Maxillary Central Incisor Syndrome	16
1745	c	CNG370	Congenital Tracheal Stenosis	16
1746	c	RTN181	Retinitis Pigmentosa 2, X-Linked	16
1747		LTH004	Lathyrism	16
1748	c	EPL107	Epilepsy, Familial Adult Myoclonic, 4	16
1749		SPN113	Spinocerebellar Ataxia with Dysmorphism	16
1750	c	HRN019	Hair-an Syndrome	16
1751	c	ACQ039	Acquired Purpura Fulminans	16
1752		KSH003	Kshv Inflammatory Cytokine Syndrome	16
1753		CNG243	Congenital Subglottic Stenosis	16
1754		PRP068	Propriospinal Myoclonus	16
1755	c	DBT077	Diabetes Mellitus, Insulin-Dependent, 19	16
1756		ACR026	Acrocephalopolydactyly	16
1757	c	MTR067	Maternal Uniparental Disomy of Chromosome 16	16
1758		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	16
1759	c	SYS048	Systemic Lupus Erythematosus 8	16
1760		MCR374	Microencephaly	16
1761		TRS011	Trisomy 2 Mosaicism	16
1762		CHR220	Chromosome 1p Deletion	16
1763	c	CLR067	Ciliary Dyskinesia, Primary, 4	16
1764		16P003	16p13.11 Microdeletion Syndrome	16
1765		LJN002	Lujan Syndrome	16
1766		CHS007	Chester Porphyria	16
1767		GLC088	Glaucoma and Sleep Apnea	16
1768		BSC003	Buschke Lowenstein Tumor	16
1769		CHR271	Chromosome 9q Deletion	16
1770		ZBR001	Zebra Body Myopathy	16
1771		TRS010	Trisomy 17 Mosaicism	16
1772		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	16
1773	c	SYS052	Systemic Lupus Erythematosus 13	16
1774		CNG529	Congenital Femoral Deficiency	16
1775		CHR250	Chromosome 4q Duplication	16
1776		SPR145	Superficial Fibromatosis	16
1777		SGR001	Sugarman Brachydactyly	16
1778	c	DBT049	Diabetes Mellitus, Insulin-Dependent, 13	16
1779	c	ALP036	Alopecia, Androgenetic, 2	16
1780		DPH023	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull	16
1781		MSC086	Mesocardia	16
1782		OVR073	Ovarian Remnant Syndrome	16
1783	c	GLC052	Glaucoma 3, Primary Congenital, C	16
1784		EPL163	Epilepsy with Bilateral Occipital Calcifications	16
1785	c	MYC085	Myoclonic Epilepsy, Juvenile 3	16
1786		GRN021	Granulomatous Rosacea	16
1787	c	KLL008	Kallmann Syndrome 6	16
1788		LNG102	Long-Thumb Brachydactyly Syndrome	16
1789		DYS053	Dystelephalangy	16
1790		PCT002	Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails	16
1791	c	CRN068	Corneal Endothelial Dystrophy Type 2	16
1792	c	PNM004	Pneumoconiosis Due to Talc	16
1793		SYN149	Syndromic Rod-Cone Dystrophy	16
1794	c	HYP551	Hypotrichosis 9	16
1795		RDC003	Red Cell Phospholipid Defect with Hemolysis	16
1796	P	PRM210	Primary Lipodystrophy	16
1797		ERL040	Early-Onset Sutural Cataract	16
1798	c	RFR015	Refractory Anemia with Excess Blasts Type 1	16
1799	c	DBT050	Diabetes Mellitus, Insulin-Dependent, 15	16
1800		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	16
1801		CHR188	Chromosome 11q Duplication	16
1802		RCT024	Reactive Angioendotheliomatosis	16
1803	c	MYC086	Myoclonic Epilepsy, Juvenile 4	16
1804		NSD003	Nasodigitoacoustic Syndrome	16
1805		16P008	16p11.2 Duplication	16
1806		PHN012	Phenytoin or Carbamazepine Toxicity	16
1807		BRC116	Brachial Amelia, Cleft Lip, and Holoprosencephaly	16
1808		LCT008	Lactate Dehydrogenase Deficiency	16
1809		PPL027	Papular Urticaria	16
1810	c	GNR040	Generalized Epilepsy with Febrile Seizures Plus, Type 4	16
1811		CHR199	Chromosome 15q Duplication	16
1812		PNH003	Pinheiro Freire-Maia Miranda Syndrome	16
1813		SYM006	Symmetrical Thalamic Calcifications	16
1814	c	FBR077	Fibromatosis, Gingival, 3	15
1815	c	FBR080	Fibromatosis, Gingival, 4	15
1816		CHR238	Chromosome 2p Duplication	15
1817		BRC096	Brachydactyly-Distal Symphalangism Syndrome	15
1818		RDT014	Radiation Myelitis	15
1819		ACT174	Acute Peripheral Arterial Occlusion	15
1820		PRP069	Purpura Simplex	15
1821		SNK001	Snakebite Envenomation	15
1822		OBS249	Obsolete: Papillary Fibroelastoma of the Heart	15
1823		SPN353	Spondylometaphyseal Dysplasia, X-Linked	15
1824		CHR181	Chromosome 10p Deletion	15
1825		PRP033	Properdin Deficiency	15
1826		SBP005	Subpulmonary Stenosis	15
1827	c	DBT055	Diabetes Mellitus, Insulin-Dependent, 3	15
1828		EXR004	Exertional Headache	15
1829		CHR264	Chromosome 8p Deletion	15
1830	c	UNP008	Uniparental Disomy of Chromosome 15	15
1831		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	15
1832		ETN003	Eating Reflex Epilepsy	15
1833	c	PRT113	Parietal Foramina 3	15
1834		XP2001	Xp22.3 Microdeletion Syndrome	15
1835		CRT056	Carotidynia	15
1836		OBS413	Obsolete: Brachydactyly of Fingers	15
1837		ART027	Aorta-Pulmonary Artery Fistula	15
1838		DBL009	Double Inferior Vena Cava	15
1839		CNG067	Congenital Cystic Eye	15
1840		ECT023	Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	15
1841		DBS003	Dibasic Amino Aciduria I	15
1842	c	OBS417	Obsolete: Brachydactyly of Toes	15
1843		GRN020	Granulomatous Hypophysitis	15
1844		DSM005	Desmoplastic Infantile Astrocytoma	15
1845		IDP047	Idiopathic Panuveitis	15
1846		NSP010	Nasopharyngeal Teratoma	15
1847		LRS009	Larsen-Like Syndrome, Lethal Type	15
1848		CNG248	Congenital Smooth Muscle Hamartoma	15
1849		MLT155	Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	15
1850	c	SPN122	Spondylocostal Dysostosis 2	15
1851	c	DBT058	Diabetes Mellitus, Insulin-Dependent, 7	15
1852	c	MYG006	Myoglobinuria, Autosomal Dominant	15
1853		ECT086	Ectrodactyly-Polydactyly	15
1854		TYP044	Type 1 Interferonopathy	15
1855		SCR022	Sacral Meningocele Conotruncal Heart Defects	15
1856		ESP040	Esophageal Duplication Cyst	15
1857		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	15
1858		CTT001	Catatrichy	15
1859		CHR272	Chromosome 9q Duplication	15
1860		MYL019	Myeloid Splenomegaly	15
1861		ONY005	Onychomatricoma	15
1862		GMB001	Gombo Syndrome	15
1863		CHR263	Chromosome 7q Duplication	15
1864		SGM006	Segmental Odontomaxillary Dysplasia	15
1865		FBR022	Febrile Ulceronecrotic Mucha-Habermann Disease	15
1866		ANP028	Anaplastic/large Cell Medulloblastoma	15
1867		MRG007	Morgellons	15
1868		GLM046	Glomus Vagale Tumor	15
1869		PLM062	Pulmonary Hyalinizing Granuloma	15
1870		CHR261	Chromosome 7p Duplication	15
1871		PRT237	Partial Deletion of the Long Arm of Chromosome 16	15
1872	P	MTC195	Mitochondrial Oxidative Phosphorylation Disorder	15
1873		PRG036	Progressive Transformation of Germinal Centers	15
1874	c	PRK095	Porokeratosis 4, Disseminated Superficial Actinic Type	15
1875		PTS017	Ptosis, Strabismus, and Ectopic Pupils	15
1876		CSK001	Cask-Related Disorders	15
1877		PST037	Pasteurella Multocida Infection	15
1878	c	SPS032	Spastic Paraplegia 24	15
1879		CRN083	Craniofacial Dyssynostosis	15
1880	P	LTH050	Lethal Chondrodysplasia	15
1881		PRX084	Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia	15
1882	c	CTR176	Cataract, Age-Related Nuclear	15
1883		ACH040	Achoo Syndrome	15
1884	c	SYS047	Systemic Lupus Erythematosus 7	15
1885		ERL037	Early-Onset Lamellar Cataract	15
1886		HYD051	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis	15
1887		ACR022	Acardia	15
1888		ECT087	Ectodermal Dysplasia, Trichoodontoonychial Type	15
1889	c	HTR012	Heterotaxy, Visceral, 3, Autosomal	15
1890		CMP052	Complication in Hemodialysis	15
1891		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	15
1892		LMB071	Lambotte Syndrome	15
1893		SSR001	Ssr4-Cdg	15
1894		CHR194	Chromosome 13q Duplication	15
1895		ADC008	Adactylia, Unilateral	15
1896		TBR012	Tuberculous Uveitis	15
1897		CMP079	Complete Septate Uterus	15
1898		CHR240	Chromosome 2q Duplication	15
1899		CRB203	Caribbean Parkinsonism	15
1900		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	15
1901		RDL028	Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema	15
1902		CLF036	Cleft Tongue	15
1903		DGT004	Digitalis Poisoning	15
1904		OMP007	Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex	15
1905		PNS014	Penis Agenesis	15
1906	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	15
1907	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	15
1908	c	HYP845	Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive	15
1909	P	NNN030	Non-Infectious Anterior Uveitis	15
1910	c	FCL050	Facial Paresis, Hereditary Congenital, 2	15
1911	c	HYP544	Hypotrichosis 10	15
1912		DRT002	Duarte Variant Galactosemia	15
1913		THR122	Thoracic Malformation	15
1914		CHR214	Chromosome 18q Duplication	14
1915	c	SYR009	Syringomas, Multiple	14
1916		ISL072	Isolated Levocardia	14
1917	c	DBT079	Diabetes Mellitus, Insulin-Dependent, 21	14
1918		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	14
1919	c	ACQ026	Acquired Pseudoxanthoma Elasticum	14
1920		BSL013	Basaloid Follicular Hamartoma	14
1921		APL029	Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy	14
1922		KLN003	Kaolin Pneumoconiosis	14
1923		ANT076	Anthracycline Extravasation	14
1924		TRP027	Triphalangeal Thumb, Nonopposable	14
1925		HRD038	Harding Ataxia	14
1926	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	14
1927		MCR070	Microcornea, Glaucoma, and Absent Frontal Sinuses	14
1928		PRR030	Pierre Robin Sequence with Facial and Digital Anomalies	14
1929		CHR196	Chromosome 14q Duplication	14
1930		CHR219	Chromosome 19q13.11 Deletion Syndrome	14
1931		ORB018	Orbital Leiomyoma	14
1932	c	MTR061	Maternal Uniparental Disomy of Chromosome 6	14
1933		CHR249	Chromosome 4q Deletion	14
1934		WYR003	Weyers Ulnar Ray/oligodactyly Syndrome	14
1935	c	ISC010	Isochromosome Yp	14
1936		AST010	Astley-Kendall Syndrome	14
1937		LTN011	Late-Onset Isolated Acth Deficiency	14
1938		TLN004	Talonavicular Coalition	14
1939		PRS111	Persistent Fifth Aortic Arch	14
1940		CHR207	Chromosome 16q Duplication	14
1941		WHS002	Whistling Face Syndrome, Recessive Form	14
1942		TRC064	Trochlear Dysplasia	14
1943	c	EPL227	Epilepsy, Familial Adult Myoclonic, 6	14
1944	c	EPL228	Epilepsy, Familial Adult Myoclonic, 7	14
1945	c	EPL186	Epilepsy, Juvenile Myoclonic 9	14
1946	c	GLT029	Glutaric Acidemia Type Iii	14
1947		CRV046	Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction	14
1948		TRC061	Trichostasis Spinulosa	14
1949		WLN002	Welander Distal Myopathy, Swedish Type	14
1950		CHR256	Chromosome 6p Duplication	14
1951	c	INF151	Infectious Panuveitis	14
1952	c	NYS016	Nystagmus 7, Congenital, Autosomal Dominant	14
1953		GSB001	Gas Bloat Syndrome	14
1954		FRY004	Fryns Hofkens Fabry Syndrome	14
1955		17Q012	17q24.2 Microdeletion Syndrome	14
1956		ACT170	Acute Ackee Fruit Intoxication	14
1957		PRS132	Parasomnia, Sleep Bruxism Type	14
1958		CHR197	Chromosome 15, Trisomy Mosaicism	14
1959		ANN013	Annular Atrophic Lichen Planus	14
1960		EXG001	Exogenous Ochronosis	14
1961		GST058	Gestational Diabetes Insipidus	14
1962		ISD002	Isodicentric Chromosome 15 Syndrome	14
1963		ARC024	Aurocephalosyndactyly	14
1964	c	DBT048	Diabetes Mellitus, Insulin-Dependent, 11	14
1965		ETH013	Euthyroid Graves Orbitopathy	14
1966		CLS034	Clostridium Septicum Infection	14
1967		CHR244	Chromosome 3p Duplication	14
1968	P	BMN001	Biemond Syndrome	14
1969		PHC007	Pheochromocytoma, Childhood	14
1970		PRV008	Parvovirus Antenatal Infection	14
1971	c	MCH014	Machado-Joseph Disease Type 2	14
1972	c	ESP034	Esophagitis, Eosinophilic, 2	14
1973	c	ATS460	Autosomal Recessive Congenital Cerebellar Ataxia	14
1974	c	PRK097	Porokeratosis 5, Disseminated Superficial Actinic Type	14
1975		CHR198	Chromosome 15q Deletion	14
1976		SHR117	Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms	14
1977	c	UNP007	Uniparental Disomy of Chromosome 6	14
1978		NNH006	Non-Herpetic Acute Limbic Encephalitis	14
1979	c	CNG100	Congenital Herpes Simplex	14
1980		CHR254	Chromosome 5q Duplication	14
1981		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	14
1982		CMB094	Combined Dystonia	14
1983		EXT058	Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly	14
1984		FRT004	Fourth Branchial Cleft Anomaly	14
1985		LFT005	Left-Sided Gallbladder	14
1986		LKN028	Leukoencephalopathy with Calcifications and Cysts	14
1987		ITC001	Itch E3 Ubiquitin Ligase Deficiency	14
1988	c	PSD024	Pseudo Pelger-Huet Anomaly	14
1989		STR070	Startle Epilepsy	14
1990		FMR007	Femur Bifid with Monodactylous Ectrodactyly	14
1991		ORB016	Orbital Varix	14
1992		LGH014	Light and Heavy Chain Deposition Disease	14
1993		PRM138	Pure Mitochondrial Myopathy	14
1994		CHR468	Chronic Pneumonitis of Infancy	14
1995		OBS412	Obsolete: Preaxial Polydactyly of Toes	14
1996		CHR183	Chromosome 10q Deletion	14
1997		RCT033	Rectal Duplication	14
1998	c	ANR028	Aneurysm, Intracranial Berry, 3	14
1999		49X005	49, Xxxyy Syndrome	14
2000		ONY004	Onychocytic Matricoma	14
2001		WLF008	Wolffian Tumor	14
2002		PRM238	Primary Intralymphatic Angioendothelioma	14
2003	c	SPS029	Spastic Paraplegia 19	14
2004		FRN042	Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	14
2005		MCR340	Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate	14
2006		ENC045	Encephalopathy, Recurrent, of Childhood	14
2007	c	SBC037	Subacute Inflammatory Demyelinating Polyneuropathy	14
2008		EXS015	Exostoses with Anetodermia and Brachydactyly, Type E	14
2009		VCT002	Vacterl Association with Hydrocephaly, X-Linked	14
2010		DST069	Distal Monosomy 12q	14
2011		ICH018	Ichthyosis Linearis Circumflexa	14
2012		CHR556	Chromosome 3q Duplication	14
2013	c	RST013	Restless Legs Syndrome 2	13
2014		DRM036	Dermochondrocorneal Dystrophy of François	13
2015		CHR274	Chromosome Xq Duplication	13
2016	c	SYS045	Systemic Lupus Erythematosus 14	13
2017		DYT003	Dyt-Gnal	13
2018	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	13
2019		IRS009	Iris Hypoplasia with Glaucoma	13
2020		FTZ005	Fitzsimmons-Guilbert Syndrome	13
2021		MCR073	Microgastria Limb Reduction Defect	13
2022	c	ANR011	Aneurysm, Intracranial Berry, 2	13
2023		HND012	Handigodu Joint Disease	13
2024	c	GNR042	Generalized Epilepsy with Febrile Seizures Plus, Type 8	13
2025		CNG400	Congenital Hereditary Endothelial Dystrophy Type I	13
2026		CHR192	Chromosome 12q Duplication	13
2027		EPP005	Epiphyseal Dysplasia Hearing Loss Dysmorphism	13
2028		FCL087	Facial Infiltrating Lipomatosis	13
2029		ACR089	Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia	13
2030	c	KLL007	Kallmann Syndrome 5	13
2031		SCN061	Scn8a Encephalopathy	13
2032		HNR001	Heiner Syndrome	13
2033	c	RST014	Restless Legs Syndrome 3	13
2034		CMP062	Complication After Organ Transplantation	13
2035	c	PTR011	Paternal Uniparental Disomy of Chromosome 1	13
2036		ACR040	Acromelanosis	13
2037		CHR223	Chromosome 1q Deletion	13
2038		MXL011	Maxillofacial Dysostosis	13
2039		CHR614	Chromosome 16p13.2 Deletion Syndrome	13
2040	c	GNR013	Generalized Epilepsy with Febrile Seizures Plus, Type 6	13
2041		SBP003	Subependymal Nodular Heterotopia	13
2042		6Q1002	6q16 Microdeletion Syndrome	13
2043		ABS016	Absence of the Pulmonary Artery	13
2044		MSC079	Mosaic Trisomy 1	13
2045		SKD001	Sakoda Complex	13
2046		MLT168	Multicore Disease	13
2047		ATL006	Atlanto-Axial Fusion	13
2048	c	DBT051	Diabetes Mellitus, Insulin-Dependent, 17	13
2049		EPD027	Epidermolysa Bullosa Simplex with Muscular Dystrophy	13
2050	P	HRD194	Hereditary Geniospasm	13
2051		PLM188	Pulmonary Arterial Hypertension Associated with Another Disease	13
2052		RKT003	Rokitansky-Aschoff Sinuses of the Gallbladder	13
2053		CRY037	Cryptophthalmia	13
2054		BNG042	Benign Multicystic Peritoneal Mesothelioma	13
2055		OBS524	Obsolete: Benign Exophthalmos Syndrome	13
2056	c	FCL065	Facial Palsy, Familial Recurrent Peripheral	13
2057		PRT178	Partial Deletion of the Long Arm of Chromosome 5	13
2058		INV015	Invasive Non-Typhoidal Salmonellosis	13
2059	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	13
2060		PHC005	Phacomatosis Pigmentokeratotica	13
2061		VRB002	Variably Protease-Sensitive Prionopathy	13
2062		RDL031	Radial Aplasia, X-Linked	13
2063		ASP009	Aspergillus Niger Infection	13
2064		CHR189	Chromosome 12p Deletion	13
2065		CHR275	Chromosome Xq28 Deletion Syndrome	13
2066		HND010	Handigodu Disease	13
2067		EXT060	Extragonadal Teratoma	13
2068		PRS125	Pura Syndrome	13
2069	c	ATS413	Autosomal Recessive Anterior Segment Dysgenesis	13
2070	c	ANR029	Aneurysm, Intracranial Berry, 6	13
2071		SPS006	Spastic Monoplegia	13
2072	c	SPS035	Spastic Paraplegia 29	13
2073		TRT022	True Thymic Hyperplasia	13
2074		CRN310	Cranial Malformation	13
2075		OBS536	Obsolete: Short Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	13
2076		CNG241	Congenital Laryngeal Palsy	13
2077	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	13
2078		EXS022	Exostosis, Dupuytren Subungual	13
2079	c	ACR046	Acropectorovertebral Dysplasia F Form	13
2080		ANT038	Anti-Plasmin Deficiency, Congenital	13
2081		GSR001	Gosr2-Related Progressive Myoclonus Ataxia	13
2082	c	INT094	Intermediate Severe Salla Disease	13
2083	c	UNP003	Uniparental Disomy of Chromosome 11	13
2084		HYP660	Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	13
2085	P	CHR555	Chromosome 3p- Syndrome	13
2086	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	13
2087		MRV001	Morvan's Fibrillary Chorea	13
2088		PRM153	Primary Progressive Apraxia of Speech	13
2089		CNG519	Congenital Gerbode Defect	13
2090	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	13
2091		20P001	20p12.3 Microdeletion Syndrome	13
2092	c	RNG031	Ring Chromosome Y Syndrome	13
2093		MDM005	Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	13
2094	c	SYS067	Systemic Lupus Erythematosus 15	13
2095	c	HPT084	Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection	13
2096	c	RST015	Restless Legs Syndrome 4	13
2097		PLG007	Pili Gemini	13
2098		KNS003	Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis	13
2099		GRN042	Granulomatous Lobular Mastitis	13
2100		MYS071	Myasthenia, Limb-Girdle, Autoimmune	13
2101	c	BLT007	Bilateral Frontal Polymicrogyria	13
2102		GLT037	Gluteal Muscles, Absence of	13
2103	c	ANR024	Aneurysm, Intracranial Berry, 9	13
2104	c	SPS161	Spastic Paraplegia 32	13
2105	c	SCN053	Secondary Glomerular Disease	13
2106		CHR258	Chromosome 6q Duplication	13
2107		TMR022	Tumor of Meninges	13
2108		SCN063	Scn2a Related Disorders	13
2109	c	DBT052	Diabetes Mellitus, Insulin-Dependent, 18	13
2110		OBS116	Obsolete: Duplication 4q	13
2111		CNG587	Congenital Limb Malformation	13
2112		INT102	Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity	13
2113		BWH001	Bow Hunter's Stroke	13
2114		NCT004	N Acetyltransferase Deficiency	13
2115		PSD044	Pseudopolycythaemia	13
2116		CNG235	Congenital Microgastria	13
2117		CHR175	Chromhidrosis	13
2118		8P1001	8p11.2 Deletion Syndrome	13
2119		KMT002	Kmt2b-Related Dystonia	13
2120		ATS285	Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	13
2121		MTS004	Metastatic Insulinoma	13
2122		TGV001	Togaviridae Disease	13
2123		DST038	Distal Monosomy 7q36	13
2124		PRR018	Preauricular Sinus	13
2125	c	SCN066	Secondary Erythromelalgia	13
2126		HRS038	Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features	13
2127		IRF001	Irf6-Related Disorders	13
2128		SPN357	Spondyloepimetaphyseal Dysplasia, Micromelic	13
2129	c	ANR022	Aneurysm, Intracranial Berry, 4	13
2130	c	SPS033	Spastic Paraplegia 25	13
2131		LTR017	Lateral Facial Cleft	13
2132	c	SPR097	Sporadic Hyperekplexia	13
2133		LRG010	L-Arginine:glycine Amidinotransferase Deficiency	13
2134		11Q001	11q22.2q22.3 Microdeletion Syndrome	12
2135		IDP062	Idiopathic Syringomyelia	12
2136		SPN414	Spondylometaphyseal Dysplasia, East African Type	12
2137		FBR026	Fibromatosis Multiple Non Ossifying	12
2138		ARC020	Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	12
2139		PLB003	Pili Bifurcati	12
2140		49X004	49,xyyyy Syndrome	12
2141		PCR003	Pauciarticular Onset Juvenile Idiopathic Arthritis	12
2142		CHR239	Chromosome 2q Deletion	12
2143		IDP023	Idiopathic Subglottic Tracheal Stenosis	12
2144		PRM233	Primary Cutaneous Plasmacytosis	12
2145		MNN041	Mannose-Binding Lectin Protein Deficiency	12
2146	c	SPS080	Spastic Paraplegia 51	12
2147		SPR028	Spirochetes Disease	12
2148		TRN045	True Unicornuate Uterus	12
2149		HYP642	Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency	12
2150		PLM053	Pulmonary Artery Agenesis	12
2151		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	12
2152	c	SPS024	Spastic Paraplegia 14	12
2153		UNC008	Unclassified Myelodysplastic Syndrome	12
2154		MSN011	Mesangioproliferative Glomerulopathy	12
2155		CD4004	Cd4 Deficiency	12
2156		XP2002	Xp22.13p22.2 Duplication Syndrome	12
2157		CHR206	Chromosome 16q Deletion	12
2158		CMP031	Complement Component Deficiency	12
2159	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	12
2160		NNP018	Non-Paraneoplastic Limbic Encephalitis	12
2161		ANN009	Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly	12
2162	c	ANR026	Aneurysm, Intracranial Berry, 5	12
2163	c	RST021	Restless Legs Syndrome 5	12
2164	c	ANR023	Aneurysm, Intracranial Berry, 7	12
2165	c	ANR030	Aneurysm, Intracranial Berry, 8	12
2166		GLM017	Glomus Tympanicum Tumor	12
2167		MTH025	Methylmalonyl-Coenzyme a Mutase Deficiency	12
2168		PLY127	Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	12
2169		CHR195	Chromosome 14q Deletion	12
2170		CYS035	Cystic Adventitial Disease	12
2171		CRY031	Cryptogenic Multifocal Ulcerous Stenosing Enteritis	12
2172		HRD141	Hereditary Proximal Myopathy with Early Respiratory Failure	12
2173	P	PRM298	Primary Peritoneal Tumor	12
2174	c	INF119	Infantile Mercury Poisoning	12
2175	c	KLZ002	Kala-Azar 2	12
2176		CNG238	Congenital Panfollicular Nevus	12
2177		CNG335	Congenital Ectropion Uveae	12
2178	c	CNG343	Congenital Coronary Artery Aneurysm	12
2179		CHR458	Chromosome 9 Inversion	12
2180		LCT018	Lactobezoar	12
2181		ANT064	Antidepressant or Antipsychotic Toxicity or Dose Selection	12
2182		CHR233	Chromosome 21q Deletion	12
2183	c	PPL045	Papular Mucinosis of Infancy	12
2184		THR034	Thoracopelvic Dysostosis	12
2185		ZLT002	Zlotogora Syndrome	12
2186		IDP043	Idiopathic Uveal Effusion Syndrome	12
2187	c	ZKV002	Zika Virus Congenital Syndrome	12
2188		TCR004	Tacrolimus Dose Selection	12
2189	c	17Q009	17q12 Recurrent Deletion Syndrome	12
2190	P	HRT041	Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	12
2191		RFR006	Refractory Cytopenia with Unilineage Dysplasia	12
2192		PRT180	Partial Deletion of the Long Arm of Chromosome 7	12
2193		OBS385	Obsolete: Postaxial Polydactyly of Fingers	12
2194		JMC001	Jamaican Vomiting Sickness	12
2195		LPM011	Lip, Median Nodule of Upper	12
2196	c	ANR025	Aneurysm, Intracranial Berry, 10	12
2197		CHR210	Chromosome 17q Duplication	12
2198	c	DNT048	Dentinogenesis Imperfecta Type 3	12
2199		WLM003	Wilms Tumor and Radial Bilateral Aplasia	12
2200		ISL131	Isolated Foveal Hypoplasia	12
2201	c	CNG342	Congenital Central Diabetes Insipidus	12
2202	P	LRY049	Laryngotracheoesophageal Cleft Type 4	12
2203	c	INF052	Infantile Scoliosis	12
2204	c	MTC183	Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies	12
2205		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	12
2206		CHR185	Chromosome 11p Deletion	12
2207		CYS023	Cystic Medial Necrosis of Aorta	12
2208		MDL007	Medial Medullary Syndrome	12
2209		SXC004	Sex Chromosome Disorder of Sex Development	12
2210	c	ADL074	Adult-Onset Distal Myopathy Due to Vcp Mutation	12
2211		LPC003	Lipoic Acid Synthetase Deficiency	12
2212	c	CLD018	Cleidocranial Dysplasia, Recessive Form	12
2213	c	SPS165	Spastic Paraplegia 47	12
2214		MYL077	Myeloid Hemopathy	12
2215	P	ISL045	Isolated Focal Cortical Dysplasia Type I	12
2216	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	12
2217	c	WSK003	Wiskott-Aldrich Syndrome, Autosomal Dominant Form	12
2218	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	12
2219	c	DYS194	Dysautonomia-Like Disorder	12
2220		SYN124	Syndromic Inherited Retinal Disorder	12
2221	c	SPN123	Spondylocostal Dysostosis 3	12
2222		CHR203	Chromosome 16p Duplication	12
2223		SLN002	Selenium Poisoning	12
2224		DYS181	Dyssegmental Dysplasia with Glaucoma	12
2225		TRP023	Triphalangeal Thumbs and Dislocation of Patella	12
2226		FNG014	Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature	12
2227		CHR255	Chromosome 6p Deletion	12
2228	c	KLL005	Kallmann Syndrome 3	12
2229		ACR113	Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma	12
2230		FGS003	Fg Syndrome 3	12
2231		CRD015	Cardiac Hydatid Cysts with Intracavitary Expansion	12
2232		TRP011	Triopia	12
2233		NND003	Non-Distal Trisomy 10q	12
2234		ALC030	Alect2 Amyloidosis	12
2235		STT044	Statin Toxicity	12
2236		VRL018	Virilizing Ovarian Tumor	12
2237		CHR217	Chromosome 19q Deletion	12
2238		CNG120	Congenital Pseudoarthrosis	12
2239	c	CNG263	Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs	12
2240		TBC002	Tbc1d24-Related Disorders	12
2241	c	CHR689	Chronic Polyradiculoneuropathy	12
2242		THR083	Third Branchial Cleft Anomaly	12
2243		XLN101	X-Linked Complex Spastic Paraplegia	12
2244		CHR235	Chromosome 22q Deletion	12
2245	c	ACQ036	Acquired Angioedema Type 2	12
2246	c	PSD023	Pseudo-Gaucher Disease	12
2247		PST109	Postinfectious Encephalitis	11
2248	c	ANR039	Aneurysm, Intracranial Berry, 11	11
2249		CLF040	Cleft Lip-Retinopathy Syndrome	11
2250		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	11
2251		ACR080	Acral Persistent Papular Mucinosis	11
2252		CHR230	Chromosome 20q Deletion	11
2253		RHB007	Rhabdomyomatous Mesenchymal Hamartoma	11
2254		CNG357	Congenital Symblepharon	11
2255	c	CHN027	Chondrodysplasia Lethal Recessive	11
2256		ATM088	Autoimmune Encephalopathy with Parasomnia and Obstructive Sleep Apnea	11
2257		CMP085	Camptomelic Syndrome, Long-Limb Type	11
2258		CNG053	Congenital Amputation	11
2259		LMY012	Leiomyosarcoma of the Cervix Uteri	11
2260		VTM021	Vitamin K Antagonists Toxicity or Dose Selection	11
2261		CHR218	Chromosome 19q Duplication	11
2262		DRM038	Dermotrichic Syndrome	11
2263		10Q002	10q22.3q23.3 Microduplication Syndrome	11
2264		DPD002	Depdc5-Related Epilepsy	11
2265	P	ICH074	Ichthyosis, Lamellar, Autosomal Dominant	11
2266		GN1001	Gnao1 Encephalopathy	11
2267	c	SCN042	Secondary Hypereosinophilic Syndrome	11
2268	P	CNG595	Congenital Alacrima	11
2269		MTP011	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	11
2270		ANR041	Aniridia-Intellectual Disability Syndrome	11
2271		CHR221	Chromosome 1p Duplication	11
2272	c	CHR143	Charcot-Marie-Tooth Disease Type 2g	11
2273		INF134	Infective Myositis	11
2274		THS001	Thai Symphalangism Syndrome	11
2275		FRM006	Formaldehyde Poisoning	11
2276		CRB080	Cor Biloculare	11
2277	c	ZYG007	Zygodactyly Type 3	11
2278		DPL010	Duplication of the Esophagus	11
2279		MDP001	Midphalangeal Hair	11
2280		NYS007	Nystagmus, Hereditary Vertical	11
2281		MTP010	Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly	11
2282		ISL033	Isolated Delta-Storage Pool Disease	11
2283		SYN109	Syndrome with a Dandy-Walker Malformation As Major Feature	11
2284		CDN003	Codeine Toxicity	11
2285		CHR459	Chromosome Xp Deletion	11
2286	c	MTC199	Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis	11
2287		MLL015	Mills Syndrome	11
2288		CHR231	Chromosome 20q Duplication	11
2289	c	USH011	Usher Syndrome, Type 2b	11
2290	c	UNP004	Uniparental Disomy of Chromosome 2	11
2291		BLR012	Biliary Hypoplasia	11
2292		CLR130	Ciliary Dyskinesia with Defective Radial Spokes	11
2293	c	ALP037	Alopecia, Androgenetic, 3	11
2294		RWL001	Rowley-Rosenberg Syndrome	11
2295	c	TRS033	Trisomy 18-Like Syndrome	11
2296	c	SPS026	Spastic Paraplegia 16	11
2297		PRT186	Partial Duplication of the Long Arm of Chromosome X	11
2298		CRC033	Circumscribed Palmoplantar Hypokeratosis	11
2299		AST008	Asternia	11
2300		TRC088	Trochleitis	11
2301		STR108	Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome	11
2302		ACQ011	Acquired Agranulocytosis	11
2303		ANG033	Angiomyomatous Hamartoma	11
2304		PRX083	Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	11
2305		MTT008	Mt-Atp6-Related Mitochondrial Spastic Paraplegia	11
2306		HYP145	Hyperbetaalaninemia	11
2307		RHZ007	Rhizomelic Pseudopolyarthritis	11
2308		SRP007	Serpinopathy	11
2309		CHR213	Chromosome 18p Tetrasomy	11
2310	c	ICH016	Ichthyosis Lamellar 3	11
2311		DST055	Distal 22q11.2 Microduplication Syndrome	11
2312	c	IDP048	Idiopathic Posterior Uveitis	11
2313		LMY006	Leiomyoma of Vulva and Esophagus	11
2314		INF115	Infectious Epithelial Keratitis	11
2315		OBS634	Obsolete: Autosomal Dominant Focal Dystonia, Dyt7 Type	11
2316		KST002	Kuster Syndrome	11
2317		IDP036	Idiopathic Bilateral Vestibulopathy	11
2318	c	CNG455	Congenital Aortopulmonary Window	11
2319		CND035	Cone Dystrophy, X-Linked, with Tapetal-Like Sheen	11
2320		HYP663	Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	11
2321		ALL025	Allopurinol Toxicity	11
2322		CHR228	Chromosome 20p Deletion	11
2323	c	CTR025	Cataract, Total Congenital	11
2324		ERY018	Erythema Nodosum, Idiopathic	11
2325		NBD001	Nbia/dyt/park-Pla2g6	11
2326		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	11
2327	c	CHR161	Chiari Malformation Type 3	11
2328		ATX036	Ataxia-Photosensitivity-Short Stature Syndrome	11
2329	c	EPL009	Epilepsy Progressive Myoclonic Type 3	11
2330		ISL054	Isolated Congenitally Uncorrected Transposition of the Great Arteries	11
2331		EPS046	Epstein-Barr Virus-Related Tumor	11
2332		TXC021	Toxicity or Absent Response to Clozapine	11
2333		SPL021	Split Hand Split Foot Nystagmus	11
2334		HYP482	Hyperinsulinism Due to Ucp2 Deficiency	11
2335		NLL003	Null Pituitary Adenoma	11
2336		DTR002	Dieterich's Disease	11
2337		ACT168	Acute Annular Outer Retinopathy	11
2338	c	AMY014	Amyloidosis Nodular Localized Cutaneous	11
2339		ALP098	Alpha-2-Deficient Collagen Disease	11
2340		DST052	Distal 7q11.23 Microduplication Syndrome	11
2341		ADL070	Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia	11
2342	c	ADL071	Adult Krabbe Disease	11
2343		SYM005	Symmastia	11
2344		MLG166	Malignant Sex Cord Stromal Tumor of Ovary	11
2345	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	11
2346		DBL015	Double Outlet Right Atrium	11
2347		CHR267	Chromosome 8q Deletion	11
2348		RDS004	Rud Syndrome	11
2349		MCR186	Microtriplication 11q24.1	10
2350	c	RRD018	Rare Disease with Pierre Robin Syndrome	10
2351		GNT118	Genetic Syndrome with a Dandy-Walker Malformation As Major Feature	10
2352		ERL036	Early-Onset Posterior Subcapsular Cataract	10
2353		TFT002	Tufted Hair Folliculitis	10
2354		DYS128	Dysplasia of Head of Femur, Meyer Type	10
2355	c	CNG257	Congenital Pulmonary Sequestration	10
2356	P	ATY049	Atypical Hemolytic Uremic Syndrome with C3 Anomaly	10
2357		OBS557	Obsolete: Secondary Ciliary Dyskinesia	10
2358		DCK001	Dock2 Deficiency	10
2359		PRT165	Partial Deletion of the Short Arm of Chromosome 7	10
2360		ATS453	Autosomal Anomaly	10
2361		SBC040	Subcutaneous Tissue Disease	10
2362		PRL020	Paralysis Agitans, Juvenile, of Hunt	10
2363	c	GLC032	Glaucoma, Hereditary	10
2364		ZLL010	Zellweger-Like Syndrome Without Peroxisomal Anomalies	10
2365		CNG131	Congenital Unilateral Pulmonary Hypoplasia	10
2366		ATY027	Atypical Lichen Myxedematosus	10
2367		RDT003	Radiation Induced Angiosarcoma of the Breast	10
2368	P	OBS551	Obsolete: Ehlers-Danlos Syndrome Type 1	10
2369		MSC088	Mosaic Trisomy 5	10
2370		OBS410	Obsolete: Central Polydactyly of Toes	10
2371		TRR003	Terrien Marginal Degeneration	10
2372		CTR005	Cataract and Congenital Ichthyosis	10
2373		ONY002	Onychotrichodysplasia and Neutropenia	10
2374		TRC060	Trichoscyphodysplasia	10
2375		CHR186	Chromosome 11p Duplication	10
2376		ISL139	Isolated Congenital Hypogonadotropic Hypogonadism	10
2377		ATT023	Attenuated Chediak-Higashi Syndrome	10
2378		IGG010	Igg4-Related Aortitis	10
2379	c	SPN121	Spondylocostal Dysostosis 1	10
2380		LRY034	Laryngotracheal Angioma	10
2381		PRT111	Partial Septate Uterus	10
2382		BST005	Bustos Simosa Pinto Cisternas Syndrome	10
2383		XNT007	Xanthogranulomatous Sialadenitis	10
2384		PRT144	Partial Deletion of Chromosome 2	10
2385	c	SCN047	Secondary Pulmonary Hemosiderosis	10
2386		DYR001	Dyrk1a-Related Intellectual Disability Syndrome	10
2387		NND005	Non-Distal Trisomy 13q	10
2388		PRT160	Partial Deletion of the Short Arm of Chromosome 4	10
2389		CHN047	Chondroectodermal Dysplasia with Night Blindness	10
2390		MCR367	Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	10
2391		CLR026	Ciliary Dyskinesia with Excessively Long Cilia	10
2392		ISL112	Isolated Congenital Hepatic Fibrosis	10
2393		MCR299	Microlissencephaly-Micromelia Syndrome	10
2394		ECT024	Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features	10
2395		NTR048	Neutropenia, Lethal Congenital, with Eosinophilia	10
2396	c	KLZ003	Kala-Azar 3	10
2397		AHM001	Ahumada Del Castillo Syndrome	10
2398		BRC024	Brachydactyly Elbow Wrist Dysplasia	10
2399	c	CHR232	Chromosome 21, Uniparental Disomy	10
2400		WND003	Windblown Hand	10
2401		ACT227	Acute Respiratory Coronavirus Infection	10
2402		4P1001	4p16.3 Microduplication Syndrome	10
2403		PDT046	Pediatric-Onset Graves Disease	10
2404		CHT001	Chaotic Atrial Tachycardia	10
2405		TPT004	Tapetoretinal Degeneration with Ataxia	10
2406		BRN050	Branchial Arch Defects	10
2407		CLR128	Ciliary Discoordination Due to Random Ciliary Orientation	10
2408		CHR260	Chromosome 7p Deletion	10
2409		TLN013	Telangiectasia Macularis Eruptive Perstans	10
2410		NND004	Non-Distal Monosomy 10q	10
2411		DST079	Distal Trisomy 5q	10
2412		DST089	Distal Trisomy 3p	10
2413		CNG062	Congenital Bronchobiliary Fistula	10
2414		OBS541	Obsolete: Bullous Systemic Lupus Erythematosus	10
2415		CTR009	Cataract Congenital Dominant Non Nuclear	10
2416		CLS033	Clostridium Sordellii Infection	10
2417		CQR001	Coq-Responsive Oxphos Deficiency	10
2418		LRY045	Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	10
2419		CHR234	Chromosome 21q Duplication	10
2420		TRS009	Trisomy 12 Mosaicism	10
2421		DFF017	Diffuse Cavernous Hemangioma of the Rectum	10
2422		BRN058	Brunsting-Perry Syndrome	10
2423		MYL051	Myalgia-Eosinophilia Syndrome Associated with Tryptophan	10
2424		DDY001	Didymosis Aplasticosebacea	10
2425		IDP079	Idiopathic Dropped Head Syndrome	10
2426		RDT016	Radiation-Induced Plexopathy	10
2427		CHN026	Chondrodysplasia Calcificans Metaphysealis	10
2428		RHZ006	Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa	10
2429		RNP002	Renoprival Hypertension	10
2430		PTT038	Pituitary Deficiency Due to Empty Sella Turcica Syndrome	10
2431		CRN207	Coronary Sinus Stenosis	10
2432		ART161	Aortic Malformation	10
2433		ADV004	Adverse Events of 5-Alpha-Reductase Inhibitors	10
2434		LTN022	Late-Onset Distal Myopathy, Markesbery-Griggs Type	10
2435		RSR001	Reese Retinal Dysplasia	10
2436		CHR237	Chromosome 2p Deletion	10
2437		PRC041	Pericardial and Diaphragmatic Defect	10
2438	c	DDN013	Duodenal Ulcer Due to Antral G-Cell Hyperfunction	10
2439		RTN201	Retinoschisis, Autosomal Dominant	10
2440		MCL020	Macules Hereditary Congenital Hypopigmented and Hyperpigmented	10
2441		ATS074	Autosomal Recessive Ataxia Due to Pex10 Deficiency	10
2442		PRT204	Partial Duplication of the Long Arm of Chromosome 4	10
2443		CNG278	Congenital Pseudoarthrosis of the Radius	10
2444		RTN189	Retinal Capillary Malformation	10
2445		STT042	Stt3a-Cdg and Stt3b-Cdg	10
2446		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	10
2447		MCR357	Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	10
2448		TTR007	Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities	10
2449		TRY006	Tryptophanuria with Dwarfism	10
2450		FCL058	Facial Arteriovenous Malformation	10
2451		HYD056	Hydrocephalus-Cleft Palate-Joint Contractures Syndrome	10
2452	c	ANM056	Anomaly of Chromosome 10	10
2453	c	PRM185	Primary Essential Cutis Verticis Gyrata	10
2454	c	CRY033	Cryofibrinogenemia, Familial Primary	10
2455		STC008	Stocco Dos Santos Syndrome	10
2456		XLN076	X-Linked Cerebellar Ataxia	10
2457		PRT215	Partial Duplication of the Short Arm of Chromosome 2	10
2458		OBS544	Obsolete: Methotrexate Poisoning	10
2459	c	CHR201	Chromosome 16, Uniparental Disomy	10
2460		ANN019	Anonychia-Ectrodactyly	10
2461		PLC012	Pleoconial Myopathy with Salt Craving	10
2462		BRZ001	Brazilian Hemorrhagic Fever	10
2463		ACH016	Achard Thiers Syndrome	10
2464	c	BRC037	Brachydactyly Type A7	10
2465		CHR191	Chromosome 12q Deletion	10
2466		PRX078	Preaxial Polydactyly of Fingers	10
2467		TRC048	Trichodental Syndrome	10
2468		MTH061	Methotrexate Toxicity or Dose Selection	10
2469		DST085	Distal Trisomy 2q	10
2470		PRS140	Parasitic Myositis	9
2471		LPD038	Lipedematous Scalp	9
2472		BRR006	Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification	9
2473	c	PLY176	Polycystic Kidney Disease 4	9
2474		XLN170	X-Linked Mendelian Susceptibility to Mycobacterial Diseases	9
2475		RLF001	Rela Fusion-Positive Ependymoma	9
2476		HFT001	Hooft Disease	9
2477		PLY165	Polyosteolysis-Hyperostosis Syndrome	9
2478		DYT004	Dyt-Prkra	9
2479		TTR006	Tetraamelia Multiple Malformations X-Linked	9
2480		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	9
2481		HMR042	Humero-Ulnar Synostosis	9
2482		AGN006	Agnathia-Microstomia-Synotia	9
2483		SCR023	Sacral Plexopathy	9
2484		CNG255	Congenital Temporomandibular Joint Ankylosis	9
2485	c	PST077	Posterior Meningocele	9
2486		HRP036	Herpesvirus Simiae B Virus Infection	9
2487		PRT106	Partial Duplication of the Short Arm of Chromosome X	9
2488	c	MYP129	Myopathy Due to Malate-Aspartate Shuttle Defect	9
2489	c	PTL011	Patella, Familial Recurrent Dislocation of	9
2490		THL008	Thalamic Degeneration, Symmetric Infantile	9
2491	c	CHR364	Chromosome 18 Pericentric Inversion	9
2492		MCR035	Macrodactyly of the Hand	9
2493	P	RCR003	Recurrent Peripheral Facial Palsy	9
2494		SPL017	Splenogonadal Fusion Limb Defects Micrognatia	9
2495		ZSK001	Zuska's Disease	9
2496	c	HLL012	Hallermann-Streiff-Like Syndrome	9
2497		IDP042	Idiopathic Recurrent Stupor	9
2498	c	PRR042	Pure or Complex Autosomal Recessive Spastic Paraplegia	9
2499	c	PRM317	Primary Qualitative or Quantitative Defects of Alpha-Dystroglycan	9
2500		OBS123	Obsolete: Amniotic Bands	9
2501		SLL006	Sillence Syndrome	9
2502		INC014	Incessant Infant Ventricular Tachycardia	9
2503		DST071	Distal Monosomy 19p13.3	9
2504	c	ERL039	Early-Onset Anterior Polar Cataract	9
2505		PRT219	Partial Duplication of the Short Arm of Chromosome 6	9
2506		DST076	Distal Trisomy 13q	9
2507	c	ALC031	Alacrima, Congenital, Autosomal Dominant	9
2508		CHR287	Chronic Polyradiculoneuritis	9
2509		PTT062	Pituitary Deficiency Due to Rathke's Cleft Cysts	9
2510	c	ATS405	Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction	9
2511		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	9
2512		ACT096	Acute Cholinergic Dysautonomia	9
2513		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	9
2514		ARW003	Airway-Centered Interstitial Fibrosis	9
2515		MSC013	Mosaic Monosomy 18	9
2516		SLF008	Self-Healing Papular Mucinosis	9
2517	c	ATS471	Autosomal Dominant Complex Spastic Paraplegia	9
2518		CRB054	Cerebellar Astrocytoma, Childhood	9
2519		HLP003	Holoprosencephaly Ectrodactyly Cleft Lip Palate	9
2520	c	SPN124	Spondylocostal Dysostosis 4	9
2521		GNT037	Genetic Hyperferritinemia Without Iron Overload	9
2522	c	UNP010	Uniparental Disomy of Chromosome 13	9
2523		PRT218	Partial Duplication of the Short Arm of Chromosome 3	9
2524		SNS012	Sinus Node Disease and Myopia	9
2525		JVN017	Juvenile Macular Degeneration and Hypotrichosis	9
2526		MTC191	Mitochondrial Dna-Related Mitochondrial Myopathy	9
2527		PRT162	Partial Deletion of the Short Arm of Chromosome 6	9
2528		PRT202	Partial Duplication of the Long Arm of Chromosome 6	9
2529		PLM187	Pulmonary Arterial Hypertension Associated with Schistosomiasis	9
2530	c	MCR185	Macrodactyly of Toes	9
2531	c	OBS550	Obsolete: Ehlers-Danlos Syndrome Type 2	9
2532		CRH002	Crohn's Disease of the Esophagus	9
2533	c	CNG249	Congenital Pulmonary Venous Return Anomaly	9
2534	c	SCN085	Secondary Ectropion	9
2535		CNG117	Congenital Nonhemolytic Jaundice	9
2536		LKN006	Leukoencephalopathy, Cerebral Calcifications, and Cysts	9
2537		ADN079	Adenosine Triphosphatase Deficiency, Anemia Due to	9
2538		HYP176	Hypertelorism and Tetralogy of Fallot	9
2539		DBR003	Dobrow Syndrome	9
2540		RHB018	Rhabdomyosarcoma of the Corpus Uteri	9
2541		DST078	Distal Trisomy 6q	9
2542		MLT117	Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	9
2543		DVL026	Developmental Defect of the Eye	9
2544		ECT107	Ectasia of the Left Atrial Appendage	9
2545	c	CNG251	Congenital Pericardium Anomaly	9
2546		9Q3002	9q33.3q34.11 Microdeletion Syndrome	9
2547		ESP045	Esophageal Malformation	9
2548		MCR034	Macrodactyly of the Foot	9
2549		TRS013	Trisomy 3 Mosaicism	9
2550		HLL011	Hall-Riggs Syndrome	9
2551		ISL065	Isolated Congenital Alacrima	9
2552		MLT172	Multiple Metaphyseal Dysplasia	9
2553		CHR216	Chromosome 19p Duplication	9
2554		CNG097	Congenital Giant Megaureter	9
2555	c	OBS841	Obsolete: Ehlers-Danlos Syndrome Type 7a	9
2556		GRN018	Granulomas, Congenital Cerebral	9
2557		HMP015	Hemophagocytic Reticulosis	9
2558	P	PRT196	Partial Trisomy of the Long Arm of Chromosome 16	9
2559		BNG090	Benign Nocturnal Alternating Hemiplegia of Childhood	9
2560		INF175	Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome	9
2561	P	RRN017	Rare Intellectual Disability	9
2562		ACC010	Accessory Tricuspid Valve Tissue	9
2563		ABS006	Absent Breasts and Nipples	9
2564		CHR245	Chromosome 3q Deletion	9
2565		CTR030	Citrulline Transport Defect	9
2566		PTT019	Pituitary Dwarfism with Large Sella Turcica	9
2567	c	DNS005	Duane Syndrome Type 3	9
2568		GNT022	Giant Mammary Hamartoma	9
2569		GLY022	Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency	9
2570		HM3001	Hemi 3 Syndrome	9
2571		KPL001	Kaplan Plauchu Fitch Syndrome	9
2572		MTH067	Methylmalonic Acidemia with Homocystinuria Type Cblj	9
2573		MYS066	Myosinopathies	9
2574		OPH015	Ophn1 Syndrome	9
2575		RLN004	Rolandic Epilepsy-Speech Dyspraxia Syndrome	9
2576	c	RTN223	Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene	9
2577		PRN048	Prenatal Benign Hypophosphatasia	9
2578		PRT241	Partial Deletion of the Long Arm of Chromosome 20	9
2579		PLM185	Pulmonary Arterial Hypertension Associated with Hiv Infection	9
2580		DST057	Distal Trisomy 19q	9
2581		HRD208	Hereditary Angioedema with C1inh Deficiency	9
2582		SVR086	Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	9
2583		XLN210	X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	8
2584		IDP061	Idiopathic Congenital Hypothyroidism	8
2585		MCR090	Microspherophakia with Hernia	8
2586		GRN053	Grin2b Related Syndrome	8
2587		2MT002	2-Methylacetoacetyl Coa Thiolase Deficiency	8
2588		DPH010	Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis	8
2589		MHV001	Mahvash Disease	8
2590	P	OBS113	Obsolete: Deletion 4q	8
2591	c	ACT189	Acute Neonatal Citrullinemia Type I	8
2592	c	UNP009	Uniparental Disomy of Chromosome 20	8
2593	c	ISL038	Isolated Focal Cortical Dysplasia Type Ib	8
2594		TRN052	Transient Hyperammonemia of the Newborn	8
2595		MRF015	Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	8
2596		FLV003	Flavimonas Oryzihabitans Infection	8
2597		3LP002	3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency	8
2598		MCR055	Microcephaly Nonsyndromal	8
2599		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	8
2600		SNG013	Single-Organ Polyarteritis Nodosa	8
2601	c	PLR020	Pleuropulmonary Blastoma Type 3	8
2602		FRY005	Fryns Smeets Thiry Syndrome	8
2603		ACT090	Acetyl-Carnitine Deficiency	8
2604		BTH003	Bothriocephalosis	8
2605		MSC014	Mosaic Monosomy 22	8
2606		OVR072	Ovarian Low Malignant Potential Tumor	8
2607		MXL013	Maxillary Arteriovenous Malformation	8
2608		FBL017	Fibular Dimelia-Diplopodia Syndrome	8
2609		PRT174	Partial Deletion of the Long Arm of Chromosome 1	8
2610		QLT016	Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan	8
2611		PRP108	Paraparetic Variant of Guillain-Barre Syndrome	8
2612		XLN237	X-Linked Pure Spastic Paraplegia	8
2613		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	8
2614		CHR215	Chromosome 19p Deletion	8
2615	c	OBS114	Obsolete: Deletion 20p	8
2616	P	PRT183	Partial Monosomy of the Long Arm of Chromosome 10	8
2617		PRT230	Partial Duplication of Chromosome 3	8
2618		OBS516	Obsolete: Fibular Aplasia-Tibial Campomelia-Oligosyndactyly Syndrome	8
2619		KLH005	Klhl9-Related Early-Onset Distal Myopathy	8
2620		JNG001	Jung Wolff Back Stahl Syndrome	8
2621		MSL002	Mousa Al Din Al Nassar Syndrome	8
2622		TBB001	Tibia Absent Polydactyly Arachnoid Cyst	8
2623		HYP584	Hypotrichosis-Intellectual Disability, Lopes Type	8
2624		ANG056	Angora Hair Nevus	8
2625		MNM005	Minimal Pigment Oculocutaneous Albinism Type 1	8
2626		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	8
2627		ANT052	Antenatal Multiminicore Disease with Arthrogryposis Multiplex Congenita	8
2628		DRR012	Diarrhea, Chronic, with Villous Atrophy	8
2629		CHR460	Chromosome Xq Deletion	8
2630	c	KLL006	Kallmann Syndrome 4	8
2631		MBD002	Mbd25-Related Intellectual Disability	8
2632		SPL023	Split Hand/foot Malformation X-Linked	8
2633		URG002	Urogenital Adysplasia	8
2634		OBS184	Obsolete: Paraplegia-Brachydactyly-Cone-Shaped Epiphysis Syndrome	8
2635		PRT199	Partial Duplication of the Long Arm of Chromosome 13	8
2636		PLY128	Polyclonal Hyperviscosity Syndrome	8
2637		ERL042	Early-Onset Partial Cataract	8
2638	c	RTN226	Retinal Ciliopathy Due to Mutation in Usher Gene	8
2639	c	LCT020	Lactic Acidosis, Chronic Adult Form	8
2640		NYS008	Nystagmus, Myoclonic	8
2641	c	DXT005	Dextro-Looped Transposition of the Great Arteries 3	8
2642		MTC024	Mitochondrial Genetic Disorders	8
2643		PRT171	Partial Deletion of the Short Arm of Chromosome 18	8
2644		VRC006	Voriconazole Toxicity	8
2645		CNG290	Congenital Absence of Both Lower Leg and Foot	8
2646	c	PTR019	Paternal Uniparental Disomy of Chromosome 5	8
2647		PST076	Postcardiotomy Right Ventricular Failure	8
2648		ESN021	Eosinophilic Mastitis	8
2649		MSM006	Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type	8
2650		ICH076	Ichthyosis Congenita with Biliary Atresia	8
2651		FLR004	Florid Cystic Endosalpingiosis of the Uterus	8
2652		JHN005	Johnston Aarons Schelley Syndrome	8
2653		OTP003	Oto-Palatal-Digital Syndrome	8
2654		SYS008	Systemic Necrotizing Angitis	8
2655		WRM002	Warman Mulliken Hayward Syndrome	8
2656		SYN101	Syndromic Hypothyroidism	8
2657		ISL028	Isolated Cerebellar Vermis Hypoplasia	8
2658		NDL018	Nodular Urticaria Pigmentosa	8
2659		PRT152	Partial Deletion of Chromosome 10	8
2660		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	8
2661		PRT207	Partial Duplication of the Short Arm of Chromosome 7	8
2662		ISL108	Isolated Splenogonadal Fusion	8
2663		NNS054	Non-Syndromic Postaxial Polydactyly	8
2664		SYN127	Syndromic Ectopia Lentis	8
2665		XLN207	X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome	8
2666		DST087	Distal Trisomy 7p	8
2667	c	GM2001	Gm2 Gangliosidosis, 0 Variant	8
2668		MSC018	Mosaic Trisomy 6	8
2669		WSC001	Wisconsin Syndrome	8
2670		PRT159	Partial Deletion of the Short Arm of Chromosome 1	8
2671	c	ACQ035	Acquired Angioedema Type 1	8
2672		BRK006	Bork Stender Schmidt Syndrome	8
2673		CRN208	Coronary Sinus Atresia	8
2674		TRD004	Taurodontism, Microdontia, and Dens Invaginatus	8
2675	P	TTL001	Total Internal Ophthalmoplegia	8
2676	c	ATS360	Autosomal Recessive Intellectual Disability 58	8
2677		SLB001	Saal Bulas Syndrome	8
2678		PRT234	Partial Duplication of Chromosome 7	8
2679		CRB213	Cerebral Organic Aciduria	8
2680		SPR148	Supranuclear Eye Movement Disorder	8
2681		CMP026	Camptodactyly-Ichthyosis Syndrome	7
2682		CTR011	Cataract Hutterite Type	7
2683		INT270	Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	7
2684		UNV005	Universal Acquired Melanosis	7
2685		EXT055	Extragonadal Germinoma	7
2686		INT355	Intercalary Limb Defects	7
2687	c	TYS003	Tay-Sachs Disease, B Variant, Juvenile Form	7
2688	c	TYS004	Tay-Sachs Disease, B Variant, Infantile Form	7
2689	c	PRM287	Primary Adult Heart Tumor	7
2690		3Q2004	3q26 Microduplication Syndrome	7
2691		SPN437	Spondylodysplastic Dysplasia	7
2692	c	OBS842	Obsolete: Ehlers-Danlos Syndrome Type 7b	7
2693		NNS059	Non-Syndromic Limb Reduction Defect	7
2694		PPL055	Pupil, Egg-Shaped	7
2695	c	ALC032	Alacrima, Congenital, Autosomal Recessive	7
2696	c	CNG110	Congenital Mumps	7
2697		GLC031	Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome	7
2698		HYP196	Hypodontia, X-Linked	7
2699		PRT151	Partial Deletion of Chromosome 16	7
2700		PRT222	Partial Duplication of Chromosome 8	7
2701		DRG027	Drug- or Toxin-Induced Pulmonary Arterial Hypertension	7
2702		HYP668	Hypospadias-Intellectual Disability, Goldblatt Type Syndrome	7
2703		MCR053	Microcephaly Micropenis Convulsions	7
2704		NTT001	Not Otherwise Specified 3-Mga-Uria Type	7
2705		OBS270	Obsolete: Microcephaly-Seizures-Developmental Delay Syndrome	7
2706		RDT017	Radiation-Induced Disorder	7
2707		CRB063	Cerebello-Olivary Atrophy	7
2708		JRG001	Jorgenson Lenz Syndrome	7
2709		TRB003	Trueb Burg Bottani Syndrome	7
2710		PRT181	Partial Deletion of the Long Arm of Chromosome 8	7
2711	P	OBS777	Obsolete: Male Infertility with Impaired Virilization	7
2712	c	CRB078	Cerebrocostomandibular-Like Syndrome	7
2713		RFS002	Refsum Disease with Increased Pipecolic Acidemia	7
2714		GNT108	Genetic Infertility	7
2715		FGF013	Fgfr3-Related Chondrodysplasia	7
2716		AMN016	Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis	7
2717		DWR002	Dauwerse-Peters Syndrome	7
2718		TRS022	Torsade De Pointes, Short-Coupled Variant	7
2719		FBL006	Fibular Aplasia Ectrodactyly	7
2720		LNG103	Lin-Gettig Syndrome	7
2721		MYC020	Mycobacterium Tuberculosis, Susceptibility to Infection by	7
2722		NLD003	Nail Dysplasia, Isolated Congenital	7
2723		PRG024	Progeroid Syndrome Petty Type	7
2724	c	PRT190	Partial Trisomy of the Long Arm of Chromosome 18	7
2725		TRG018	Trigonocephaly-Broad Thumbs Syndrome	7
2726		VLV045	Vulvovaginal Rhabdomyosarcoma	7
2727		AXN006	Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy	7
2728	c	CNG476	Congenital Systemic Arteriovenous Fistula	7
2729		TRN049	Transient Tyrosinemia of the Newborn	7
2730		OBS411	Obsolete: Postaxial Polydactyly of Toes	7
2731	c	PRM322	Primary Myoclonus	7
2732		SHR095	Short Fifth Metacarpals-Insulin Resistance Syndrome	7
2733		TRC108	Trichodysplasia-Amelogenesis Imperfecta Syndrome	7
2734	c	LRY050	Laryngotracheoesophageal Cleft Type 2	7
2735	c	ISC013	Isochromosomy Yq	7
2736	c	SPS040	Spastic Paraplegia 5b	7
2737		DNS002	Dens in Dente and Palatal Invaginations	7
2738		CRB075	Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease	7
2739		ANT033	Anterior Spinal Artery Stroke	7
2740		DST096	Distal Arthrogryposis with Hypopituitarism, Intellectual Disability and Facial Anomalies	7
2741		XLN212	X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	7
2742	c	CNG591	Congenital Hypothyroidism Due to Developmental Anomaly	7
2743		CHT002	Chitayat Meunier Hodgkinson Syndrome	7
2744		DSH001	Daish Hardman Lamont Syndrome	7
2745		GYF001	Gay Feinmesser Cohen Syndrome	7
2746		KSH002	Kashani Strom Utley Syndrome	7
2747		SYF001	Say-Field-Coldwell Syndrome	7
2748		XLN106	X-Linked Intellectual Disability with or Without Nystagmus	7
2749		ISL026	Isolated Sternocostoclavicular Hyperostosis	7
2750	P	PRT170	Partial Monosomy of the Short Arm of Chromosome 17	7
2751		PRT177	Partial Deletion of the Long Arm of Chromosome 4	7
2752		RDL019	Radio-Ulnar Synostosis, Unilateral	7
2753		CLF022	Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss	7
2754		15Q006	15q13.3 Microduplication Syndrome	7
2755		BTZ001	Baetz-Greenwalt Syndrome	7
2756		BRC020	Brachydactylous Dwarfism Mseleni Type	7
2757		CLF054	Cleft Palate, Cardiac Defects, and Intellectual Disability	7
2758		SCK006	Sackey Sakati Aur Syndrome	7
2759	c	SCN009	Scn1a-Related Seizure Disorders	7
2760		CVT002	Cavitary Myiasis	7
2761		UTR059	Uterovaginal Malformation	7
2762		ERL058	Early-Onset Progressive Encephalopathy with Migrant Continuous Myoclonus	7
2763	c	PRT173	Partial Monosomy of the Short Arm of Chromosome 20	7
2764		OKH001	Okihiro Syndrome Due to a Point Mutation	7
2765	c	46X063	46,xy Disorder of Sex Development Due to Impaired Androgen Production	7
2766		DSR032	Disorder of Manganese Transport	7
2767		DNJ004	Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	7
2768		MYC061	Myoclonic Epilepsy in Non-Progressive Encephalopathies	7
2769		HYP504	Hypothalamic Hamartomas with Gelastic Seizures	7
2770		NDL019	Nodular Lichen Myxedematosus	7
2771		PHK009	Phakomatosis Cesiomarmorata	7
2772	c	MTR079	Maternal Uniparental Disomy of Chromosome 13	7
2773		UNC009	Unclassified Myelodysplastic/myeloproliferative Disease	7
2774		CHR259	Chromosome 6q25 Microdeletion Syndrome	7
2775		DND014	Dandy-Walker Malformation with Sagittal Craniosynostosis and Hydrocephalus	7
2776		PTL005	Patel Bixler Syndrome	7
2777		SGM003	Segmentation Syndrome 1	7
2778		PRT193	Partial Duplication of the Long Arm of Chromosome 11	7
2779	P	ISC012	Isochromosome Y	7
2780		CDC005	Cad-Cdg	6
2781		MRT006	Martinez Monasterio Pinheiro Syndrome	6
2782		SMS002	Samson Viljoen Syndrome	6
2783	c	NYS019	Nystagmus, Congenital, Autosomal Recessive	6
2784		CNG592	Congenital Aortic Valve Atresia	6
2785		DWR022	Dwarfism, Proportionate, with Hip Dislocation	6
2786		MTP007	Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands	6
2787		ANT036	Anti-Hla Hyperimmunization	6
2788	c	CHR162	Chiari Malformation Type 4	6
2789		CRN101	Craniosynostosis Philadelphia Type	6
2790		ESC002	Escobar Syndrome, Type B	6
2791		HMN015	Hamanishi Ueba Tsuji Syndrome	6
2792		IDP014	Idiopathic Alveolar Hypoventilation Syndrome	6
2793		KRS001	Krauss Herman Holmes Syndrome	6
2794		MHT001	Mehta Lewis Patton Syndrome	6
2795		ODN003	O Donnell Pappas Syndrome	6
2796		PNM022	Pneumonia Caused by Pseudomonas Aeruginosa Infection	6
2797		SCH021	Schaefer Stein Oshman Syndrome	6
2798		SPR029	Spirurida Infections	6
2799		TRY005	Trypanosomiasis, Human West-African	6
2800		ISL100	Isolated Congenital Breast Hypoplasia/aplasia	6
2801		CMM016	Commissural Lip Fistula	6
2802	c	ANM065	Anomaly of Chromosome 16	6
2803		PRT242	Partial Deletion of the Long Arm of Chromosome 21	6
2804		PLM191	Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia	6
2805		DST058	Distal Monosomy 12p	6
2806		CNG261	Congenital Insensitivity to Pain with Hyperhidrosis	6
2807		ATS105	Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency	6
2808		CNG300	Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance	6
2809		CRP029	Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	6
2810		FCL071	Facial Diplegia with Paresthesias	6
2811		STP010	Staphylococcal Necrotizing Pneumonia	6
2812		DST074	Distal Trisomy 20q	6
2813		DST075	Distal Trisomy 16q	6
2814		CHR512	Cheirospondyloenchondromatosis	6
2815	P	OBS151	Obsolete: Channelopathy	6
2816	P	OBS768	Obsolete: Male Infertility with Normal Virilization	6
2817		AML008	Amelogenesis Imperfecta Local Hypoplastic	6
2818		ARR003	Arroyo Garcia Cimadevilla Syndrome	6
2819	c	ATS410	Autosomal Dominant Intellectual Disability 49	6
2820		INF139	Infantile Choroidocerebral Calcification Syndrome	6
2821		MSS003	Massa Casaer Ceulemans Syndrome	6
2822		PCH017	Pachygyria-Intellectual Disability-Epilepsy Syndrome	6
2823		SCH034	Schwartz Cohen-Addad Lambert Syndrome	6
2824		SRS008	Seres-Santamaria Arimany Muniz Syndrome	6
2825		BNG063	Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy	6
2826	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	6
2827		GNT139	Genetic Intractable Diarrhea of Infancy	6
2828		CNG091	Congenital Ectodermal Dysplasia with Hearing Loss	6
2829		LWR006	Lower Mesodermal Defects Sequence	6
2830		SCH032	Schrander-Stumpel Theunissen Hulsmans Syndrome	6
2831		ORG008	Orgasm-Induced Seizures	6
2832		LPT012	Leptomyelolipoma	6
2833		ISL034	Isolated Megalencephaly	6
2834	c	ATS463	Autosomal Dominant Cerebellar Ataxia Type Iv	6
2835	P	DSR041	Disorder of Multiple Glycosylation	6
2836		ACR117	Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia	6
2837		PLY164	Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive	6
2838	c	MLG021	Malignant Sertoli-Leydig Cell Tumor	6
2839		3LP001	3 Alpha Methylcrotonyl-Coa Carboxylase 2 Deficiency	6
2840		ALP024	Alopecia Universalis Onychodystrophy Vitiligo	6
2841		AMN008	Aminolevulinate Dehydratase Deficiency Porphyria	6
2842		CMP033	Complement Receptor Deficiency	6
2843		FRN018	Frenkel Russe Syndrome	6
2844		GNR045	Generalized Lipodystrophy-Associated Progeroid Syndrome	6
2845		MCP019	Mcpherson Robertson Cammarano Syndrome	6
2846		SMS001	Samson Gardner Syndrome	6
2847		THL007	Thalamic Degeneration Symmetrical Infantile	6
2848		ZDK001	Zadik Barak Levin Syndrome	6
2849		MYP061	Myopathy with Hexagonally Cross-Linked Tubular Arrays	6
2850		7Q3001	7q31 Microdeletion Syndrome	6
2851		PRT148	Partial Deletion of Chromosome 6	6
2852		DST054	Distal 17p13.3 Microdeletion Syndrome	6
2853		ATY043	Atypical Norrie Disease Due to Xp11.3 Microdeletion	6
2854		CNF001	Confetti-Like Macular Atrophy	6
2855	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	6
2856		KTM001	Ketamine-Induced Biliary Dilatation	6
2857		GNT163	Genetic Alopecia	6
2858		SCL040	Scleromyxedema Without Monoclonal Gammopathy	6
2859		ISL149	Isolated Nail Anomaly	6
2860		IDP088	Idiopathic Isolated Micropenis	6
2861		TBL020	Tubular Duplication of the Esophagus	6
2862	c	ATS403	Autosomal Dominant Intellectual Disability 40	6
2863		GNT014	Genetic Reflex Epilepsy	6
2864	c	BNG038	Benign Autosomal Dominant Myopathy	6
2865		CRN072	Coronaro-Cardiac Fistula	6
2866		CRT077	Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	6
2867		LVT002	Levotransposition of the Great Arteries	6
2868		PRG025	Progeroid Syndrome, Penttinen Type	6
2869		RKT002	Rokitansky Sequence	6
2870		OBS426	Obsolete: Glycogen Storage Disease Due to Acid Maltase Deficiency, Juvenile Onset	6
2871	c	HYD017	Hydrocephalus Autosomal Recessive	6
2872	c	ACR048	Acrorenal Syndrome Recessive	6
2873		ANN003	Anencephaly and Spina Bifida X-Linked	6
2874		BKR001	Baker Vinters Syndrome	6
2875	c	CHR179	Chromosome 1, Uniparental Disomy 1q12 Q21	6
2876		CLR028	Ciliary Dyskinesia-Bronchiectasis	6
2877		DRK001	Der Kaloustian Mcintosh Silver Syndrome	6
2878		DPR003	Diprosopia	6
2879		DYT008	Dyt/park-Gch1	6
2880		GHS002	Ghose Sachdev Kumar Syndrome	6
2881		HRR001	Harrod Doman Keele Syndrome	6
2882		KZL001	Kozlowski Brown Hardwick Syndrome	6
2883		MRT004	Maroteaux Fonfria Syndrome	6
2884		MGL005	Megalocornea - Spherophakia - Secondary Glaucoma	6
2885		MSM005	Mesomelic Dwarfism Cleft Palate Camptodactyly	6
2886		PLL007	Pillay Syndrome	6
2887		PDD001	Podder-Tolmie Syndrome	6
2888		RZC001	Ruzicka Goerz Anton Syndrome	6
2889		THN007	Thinking Seizures	6
2890		OBS134	Obsolete: Syndrome Associated with Pierre Robin Syndrome	6
2891