Rare Diseases Category (15241 diseases)

Including: rare
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		FRG013	Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)	20
2	c	HYP595	Hypertension, Essential	84
3	P	RHM011	Rheumatoid Arthritis	80
4	P	NRF023	Neurofibromatosis, Type Ii	76
5	c	HMC039	Hemochromatosis, Type 1	74
6		ACR006	Aceruloplasminemia	73
7		AGM019	Agammaglobulinemia, X-Linked	72
8		BSL036	Basal Cell Nevus Syndrome	72
9	P	WSK001	Wiskott-Aldrich Syndrome	71
10	P	SRC025	Sarcoidosis 1	70
11		MYL009	Myelodysplastic Syndrome	70
12	P	BRG001	Brugada Syndrome	70
13	P	FRG001	Fragile X Syndrome	68
14	P	MYC084	Mycobacterium Tuberculosis 1	68
15	c	FML021	Familial Hypercholesterolemia	68
16	P	DBT085	Diabetes Mellitus, Insulin-Dependent	67
17		BLM001	Bloom Syndrome	66
18	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	66
19	c	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	66
20		ART001	Arterial Tortuosity Syndrome	66
21	P	LYS001	Loeys-Dietz Syndrome	66
22		LWC002	Lowe Oculocerebrorenal Syndrome	66
23		OMN001	Omenn Syndrome	66
24		CHG001	Chagas Disease	66
25	P	LNG028	Long Qt Syndrome	65
26	P	HRM001	Hermansky-Pudlak Syndrome	65
27	c	HMP022	Hemophagocytic Lymphohistiocytosis, Familial, 1	65
28		DMN031	Dementia, Lewy Body	65
29	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	64
30		MVL001	Mevalonic Aciduria	64
31		CRN296	Carnitine Palmitoyltransferase Ii Deficiency, Infantile	64
32		MYC079	Myoclonic Epilepsy of Lafora	64
33	P	SPN046	Spinal Muscular Atrophy	64
34		BLS001	Blau Syndrome	64
35	c	ART101	Aortic Valve Disease 2	63
36		MSC007	Muscle Hypertrophy	63
37	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	63
38		LYM017	Lyme Disease	63
39		TYP007	Typhoid Fever	63
40	P	NTR004	Neutropenia	63
41	P	PRD008	Periodontitis	62
42		TMT001	Timothy Syndrome	62
43		ESP020	Esophageal Atresia	62
44		TKY002	Takayasu Arteritis	61
45		CHR066	Chronic Fatigue Syndrome	61
46		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	61
47		BRC012	Brucellosis	61
48	P	LYM113	Lymphoproliferative Syndrome, X-Linked, 1	61
49		LCR014	Lacrimoauriculodentodigital Syndrome	61
50		CYC010	Cyclic Neutropenia	61
51		SDD001	Sudden Infant Death Syndrome	61
52		RHM001	Rheumatic Fever	61
53		DRR014	Darier-White Disease	61
54		SPN404	Spinal and Bulbar Muscular Atrophy, X-Linked 1	61
55		HYP810	Hypereosinophilic Syndrome, Idiopathic	61
56	P	CHL002	Childhood Absence Epilepsy	60
57		CHR619	Chromosome 2q35 Duplication Syndrome	60
58	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	60
59		CHR001	Churg-Strauss Syndrome	60
60		ARG002	Argininosuccinic Aciduria	60
61	P	NMN002	Niemann-Pick Disease	60
62		ASP002	Aspartylglucosaminuria	60
63	P	SCL018	Scoliosis	60
64		STT001	Status Epilepticus	59
65		IMM174	Immunodeficiency with Hyper-Igm, Type 1	59
66	c	MSC037	Muscular Dystrophy-Dystroglycanopathy , Type a, 4	59
67		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	59
68		MTC146	Mitochondrial Complex I Deficiency, Nuclear Type 1	59
69		TTZ003	Tietz Albinism-Deafness Syndrome	58
70		ANT024	Anthrax Disease	58
71		PMS001	Poems Syndrome	58
72		SCR008	Scrub Typhus	58
73	P	URT039	Urticaria	58
74	P	CMR001	Camurati-Engelmann Disease	58
75		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	58
76	P	PLY006	Polydactyly	58
77	P	SCK004	Seckel Syndrome	57
78	P	HDC001	Headache	57
79		RSP019	Respiratory Distress Syndrome in Premature Infants	57
80		LYS003	Lysinuric Protein Intolerance	56
81	P	STR020	Strabismus	56
82	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	56
83		HRD031	Hereditary Paraganglioma-Pheochromocytoma Syndromes	56
84		ALP097	Alopecia Universalis Congenita	56
85		SFT003	Soft Tissue Sarcoma	56
86		PPL025	Popliteal Pterygium Syndrome	56
87	P	ALP008	Alopecia	56
88		DBL002	Double Outlet Right Ventricle	56
89	P	PLY011	Polycystic Ovary Syndrome	56
90		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	56
91	P	PNM006	Pneumoconiosis	55
92		SYN007	Synovitis	55
93	P	BRT004	Bartter Disease	55
94	c	SCN036	Secondary Progressive Multiple Sclerosis	55
95	c	CCK008	Cockayne Syndrome a	55
96	P	ATR001	Atrioventricular Septal Defect	55
97	P	WLL002	Weill-Marchesani Syndrome	55
98	P	DBT005	Diabetes Insipidus	55
99		DXT001	Dextrocardia	55
100		HYP774	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	55
101	c	INT064	Intermediate Uveitis	55
102	P	ANT006	Antiphospholipid Syndrome	54
103	P	GNR002	Generalized Epilepsy with Febrile Seizures Plus	54
104		HYP458	Hyper Ige Syndrome	54
105	c	OST163	Osteopetrosis, Autosomal Recessive 3	54
106		ACR058	Acrofacial Dysostosis 1, Nager Type	54
107		RLP001	Relapsing Polychondritis	54
108	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	54
109		ORT008	Orotic Aciduria	54
110	c	PST005	Posterior Uveitis	54
111		HLL004	Hellp Syndrome	53
112		CHK001	Chikungunya	53
113		VCS001	Vici Syndrome	53
114	P	RTN016	Retinal Degeneration	53
115		HDR002	Hidradenitis Suppurativa	53
116		HYP706	Hypermobile Ehlers-Danlos Syndrome	53
117		MMB001	Membranoproliferative Glomerulonephritis	53
118	P	ART018	Aortic Valve Insufficiency	53
119	P	NLX004	Neu-Laxova Syndrome 1	53
120	P	CRB194	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	53
121	c	WRD033	Waardenburg Syndrome, Type 2e	53
122		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	52
123	c	LTN004	Late-Onset Retinal Degeneration	52
124	P	VSC013	Visceral Heterotaxy	52
125		PRN011	Pernicious Anemia	52
126	P	ACT105	Acute Mountain Sickness	52
127		FLT011	Felty Syndrome	52
128		ERD001	Erdheim-Chester Disease	52
129		INF034	Infective Endocarditis	52
130	P	PRR016	Pierre Robin Syndrome	52
131		NTR018	Neutrophilia, Hereditary	52
132		RYS001	Reye Syndrome	51
133	c	ACR116	Aicardi-Goutieres Syndrome 1	51
134		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	51
135		MYP136	Myopathy, Centronuclear, X-Linked	51
136	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	51
137	c	FNC025	Fanconi Anemia, Complementation Group J	51
138		MCR088	Microscopic Polyangiitis	51
139		MLB001	Mulibrey Nanism	51
140		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	51
141	P	LCT001	Lactic Acidosis	51
142		DRR008	Diarrhea 1, Secretory Chloride, Congenital	51
143		GLC004	Galactokinase Deficiency	51
144	P	GNG025	Gingival Fibromatosis	51
145	P	MNT319	Mental Retardation, Autosomal Dominant 20	51
146		RVS001	Revesz Syndrome	50
147		KRT010	Kartagener Syndrome	50
148	c	HMC009	Hemochromatosis Type 2	50
149	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	50
150	P	TMP001	Temporal Lobe Epilepsy	50
151		MLT134	Multiple Pterygium Syndrome, Lethal Type	50
152		CHR078	Chorioretinitis	50
153	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	50
154		RLP003	Relapsing Fever	50
155		RDL002	Radioulnar Synostosis	50
156		CSY001	C Syndrome	50
157	c	MLT086	Multiple Endocrine Neoplasia, Type Iv	50
158	P	OVR082	Overgrowth Syndrome	50
159		ALV002	Alveolar Echinococcosis	50
160	P	ALP061	Alopecia, Androgenetic, 1	49
161	c	LYS020	Loeys-Dietz Syndrome 5	49
162		MYC012	Mycetoma	49
163		47X002	47,xyy	49
164		PLM041	Pulmonary Valve Stenosis	49
165		BLS002	Blastomycosis	49
166		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	49
167		LPD016	Lipoid Proteinosis of Urbach and Wiethe	49
168		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	49
169		KBG001	Kbg Syndrome	49
170	c	ART120	Arthrogryposis, Distal, Type 3	49
171	c	BRD018	Bardet-Biedl Syndrome 6	48
172	P	CMP008	Compartment Syndrome	48
173		MLT145	Multiple Enchondromatosis, Maffucci Type	48
174		MCR020	Microsporidiosis	48
175	c	ART155	Arthrogryposis, Distal, Type 2b1	48
176		TBR011	Tuberculous Meningitis	48
177	P	JVN007	Juvenile Absence Epilepsy	48
178		ERY004	Erysipelas	48
179	P	SCL015	Scleritis	48
180		FBR032	Fibromuscular Dysplasia	48
181		SND002	Sneddon Syndrome	48
182		NCR004	Nocardiosis	48
183		SPH010	Sphingolipidosis	47
184		NNT017	Neonatal Adrenoleukodystrophy	47
185		RSP023	Rasopathy	47
186		MYP151	Myopathy, Congenital, Bailey-Bloch	47
187	c	CNT075	Central Precocious Puberty	47
188	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	47
189	P	TRT019	Torticollis	47
190		HYP801	Hyperferritinemia with or Without Cataract	47
191		VRN004	Vernal Keratoconjunctivitis	47
192		PRS127	Pearson Marrow-Pancreas Syndrome	47
193	c	FNC032	Fanconi Anemia, Complementation Group B	47
194		NNC002	Nance-Horan Syndrome	47
195		TTR011	Tetraploidy	47
196	c	MLG069	Malignant Hypertension	47
197		FBL002	Fibular Hypoplasia and Complex Brachydactyly	47
198	P	TRM004	Trimethylaminuria	47
199		CRY008	Cryopyrin-Associated Periodic Syndrome	47
200		PRG033	Progressive Non-Fluent Aphasia	47
201	P	VTR007	Vitreoretinopathy	46
202		STV007	Stevens-Johnson Syndrome/toxic Epidermal Necrolysis	46
203		ASB001	Asbestosis	46
204		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	46
205		MYL013	Myeloperoxidase Deficiency	46
206		MNC019	Monocarboxylate Transporter 1 Deficiency	46
207	P	BLR006	Biliary Tract Disease	46
208		CNG028	Congenital Hypoplastic Anemia	46
209	c	BRD032	Bardet-Biedl Syndrome 14	46
210		PRX001	Peroxisomal Disease	46
211		ENC010	Encephalocraniocutaneous Lipomatosis	46
212	P	WHT013	White Sponge Nevus 1	46
213		NSS002	Neisseria Meningitidis Infection	46
214		MNN032	Meningococcal Meningitis	46
215	c	HYP575	Hypotrichosis 7	46
216		VNZ002	Venezuelan Equine Encephalitis	46
217		INC018	Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia	46
218		EBL001	Ebola Hemorrhagic Fever	46
219		DRG026	Drug Reaction with Eosinophilia and Systemic Symptoms	46
220		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	46
221		CLF037	Cleft Lip/palate-Ectodermal Dysplasia Syndrome	46
222	c	JBR012	Joubert Syndrome 5	46
223		PST027	Postencephalitic Parkinson Disease	45
224	c	VNW008	Von Willebrand Disease, Type 3	45
225		MCR037	Macroglossia	45
226		LMB050	Limbal Stem Cell Deficiency	45
227		PKL001	Poikiloderma with Neutropenia	45
228		GLL048	Glial Tumor	45
229	c	KNB006	Knobloch Syndrome 1	45
230		STS002	Situs Inversus	45
231		BRL010	Buruli Ulcer	45
232		NNK001	Nonaka Myopathy	45
233		DYG001	Dyggve-Melchior-Clausen Disease	45
234		MSC028	Muscular Dystrophy, Congenital, Megaconial Type	45
235	c	GM2006	Gm2 Gangliosidosis	45
236	c	XFP001	Xfe Progeroid Syndrome	45
237	c	BRC109	Brachydactyly, Type E1	45
238		FSH001	Fish-Eye Disease	45
239		GRN007	Granuloma Annulare	45
240	c	3MT014	3-Methylglutaconic Aciduria, Type V	45
241		NNS002	Nonspecific Interstitial Pneumonia	45
242	c	NML004	Nemaline Myopathy 3	45
243		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	45
244	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	45
245		PTT037	Pituitary Tumors	44
246	c	ZLL011	Zellweger Spectrum Disorder	44
247	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	44
248		GRN017	Granulocytopenia	44
249		CHN010	Chondroma	44
250		JVN033	Juvenile Nasopharyngeal Angiofibroma	44
251		MNG006	Monogenic Diabetes	44
252	c	RTS003	Ritscher-Schinzel Syndrome 1	44
253		PLN005	Palindromic Rheumatism	44
254	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	44
255	c	LNG050	Long Qt Syndrome 5	44
256		ATR013	Atrichia with Papular Lesions	44
257	P	HRT035	Heart Block, Congenital	44
258		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	44
259		CHL109	Childhood Apraxia of Speech	44
260		SPN119	Spondylarthropathy	44
261		VLV044	Vulvar Intraepithelial Neoplasia	44
262		CYT002	Cytokine Deficiency	44
263	c	RTN172	Retinitis Pigmentosa 1	44
264	c	JVN003	Juvenile Xanthogranuloma	44
265		TRS002	Tarsal-Carpal Coalition Syndrome	44
266	c	MCL043	Macular Degeneration, Age-Related, 2	44
267		DWR001	Dwarfism	44
268	P	SDR002	Siderosis	44
269	c	CTR096	Cataract 6, Multiple Types	43
270		ACR012	Aicardi Syndrome	43
271	c	SPN308	Spinocerebellar Ataxia 28	43
272	c	BRT052	Bartter Syndrome, Type 1, Antenatal	43
273	P	SYN075	Syngnathia	43
274	P	HYP078	Hypertrophy of Breast	43
275		SBL008	Sea-Blue Histiocyte Disease	43
276		IDP033	Idiopathic Edema	43
277		PRN049	Paraneoplastic Pemphigus	43
278	c	HRD173	Hereditary Late-Onset Parkinson Disease	43
279		HSD004	Hsd10 Mitochondrial Disease	43
280		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	43
281		IDP073	Idiopathic Hypercalciuria	43
282	c	BRT038	Baraitser-Winter Syndrome 1	43
283		DYS018	Dysostosis	43
284	c	46X002	46 Xx Gonadal Dysgenesis	43
285	c	FNC057	Fanconi Anemia, Complementation Group U	43
286		ANP009	Anaplastic Oligodendroglioma	43
287	P	STR092	Striatal Degeneration, Autosomal Dominant 2	43
288		LSS001	Loiasis	42
289		FCL022	Focal Dystonia	42
290	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	42
291		HMP009	Haemophilus Influenzae	42
292	P	JVN008	Juvenile Glaucoma	42
293		DSC009	Discoid Lupus Erythematosus	42
294		OGD001	Ogden Syndrome	42
295		TRP006	Tarp Syndrome	42
296	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	42
297	P	CLL015	Collagen Disease	42
298		PRS115	Prosthetic Joint Infection	42
299	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	42
300	P	LTH003	Lethal Congenital Contracture Syndrome	42
301		C1Q001	C1q Deficiency	42
302	P	RNG032	Ring Chromosome	42
303		BBN001	Bubonic Plague	42
304	c	MYS046	Myasthenic Syndrome, Congenital, 1a, Slow-Channel	42
305	P	HYP087	Hypotrichosis	42
306	c	VTL009	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	42
307	P	PRP034	Purpura Fulminans	42
308		PHH001	Phaeohyphomycosis	42
309		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	41
310	c	SCK015	Seckel Syndrome 2	41
311	c	CNG023	Congenital Fibrosarcoma	41
312		ATP013	Atopic Keratoconjunctivitis	41
313		PLG004	Plagiocephaly	41
314		GGR001	Geographic Tongue	41
315		PRK003	Parkes Weber Syndrome	41
316		49X006	49, Xxxxy Syndrome	41
317	c	HYP507	Hypotrichosis 1	41
318	c	RTN090	Retinitis Pigmentosa 55	41
319		DYS032	Dystrophinopathies	41
320		CHR492	Chromosome 13q14 Deletion Syndrome	41
321	c	CLR136	Ciliary Dyskinesia, Primary, 9	41
322	c	LNG056	Long Qt Syndrome 12	41
323	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	41
324	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	41
325	c	RTN180	Retinitis Pigmentosa 74	41
326		UND011	Undetermined Early-Onset Epileptic Encephalopathy	41
327		PYG006	Pyogenic Granuloma	40
328		HYP466	Hyperplastic Polyposis Syndrome	40
329		STP004	Staphylococcal Toxic Shock Syndrome	40
330		PLY062	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy	40
331		KRT063	Keratocystic Odontogenic Tumor	40
332		INH001	Inhalation Anthrax	40
333	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	40
334	c	ACT067	Acute Conjunctivitis	40
335		RCK002	Rocky Mountain Spotted Fever	40
336	c	RTN054	Retinitis Pigmentosa 25	40
337	c	ALZ015	Alzheimer Disease 6	40
338	c	DYS067	Dystonia 6, Torsion	40
339	c	CNG027	Congenital Hemolytic Anemia	40
340	c	NML006	Nemaline Myopathy 5	40
341	c	MCR269	Microcephaly 15, Primary, Autosomal Recessive	40
342		VLV042	Vulvar Vestibulitis Syndrome	40
343		IDP064	Idiopathic Neutropenia	40
344	c	RTN066	Retinitis Pigmentosa 4	40
345		DNS007	Dense Deposit Disease	40
346		BLR027	Blue Rubber Bleb Nevus	40
347	P	MCR364	Macrodactyly	40
348		PLY100	Polyploidy	40
349		RTC012	Reticuloendotheliosis, X-Linked	40
350		CLP005	Ciliopathy	40
351		SPS019	Spastic Paraparesis	40
352		KFM001	Kaufman Oculocerebrofacial Syndrome	39
353	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	39
354		HRP025	Herpes Simplex Virus Keratitis	39
355		GLM044	Glomerular Disease	39
356		MJD001	Majeed Syndrome	39
357	c	RTN062	Retinitis Pigmentosa 33	39
358		HTR014	Heterotaxy, Visceral, 1, X-Linked	39
359		GBT001	Gaba-Transaminase Deficiency	39
360		ESN002	Eosinophilia-Myalgia Syndrome	39
361		HYP137	Hypotrichosis Simplex	39
362	c	SPH014	Spherocytosis, Type 2	39
363		PRM329	Premature Aging	39
364	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	39
365	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	39
366	c	HYP581	Hypotrichosis 6	39
367	c	LNG057	Long Qt Syndrome 13	39
368		ANG002	Angiostrongyliasis	39
369	P	NNT042	Neonatal Lupus Erythematosus	39
370		CRV045	Cervical Intraepithelial Neoplasia	39
371		SML028	Semilobar Holoprosencephaly	39
372	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	39
373	c	ACQ012	Acquired Angioedema	39
374		PCH007	Pouchitis	39
375		SCH060	Schistosoma Mansoni Infection, Susceptibility/	39
376		ORN001	Ornithosis	39
377		WLL004	Wallerian Degeneration	39
378	P	LCR008	Lacrimal Apparatus Disease	39
379		HTR003	Heterotaxy	39
380		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	39
381	c	ERL056	Early-Onset Parkinson's Disease	39
382		SPN221	Spina Bifida Occulta	38
383		IND002	Indolent Systemic Mastocytosis	38
384	c	CNR005	Cone-Rod Dystrophy 3	38
385		DYS030	Dysferlinopathy	38
386	c	ACT159	Acute Transverse Myelitis	38
387	c	PSR032	Psoriasis 11	38
388	c	LNG046	Long Qt Syndrome 11	38
389	c	LNG098	Long Qt Syndrome 14	38
390	c	HYP559	Hypotrichosis 8	38
391	c	JBR028	Joubert Syndrome 13	38
392		CRB081	Cerebellar Ataxia, Cayman Type	38
393		MNK002	Monkeypox	38
394		HNZ004	Heinz Body Anemias	38
395	c	RTN114	Retinitis Pigmentosa 58	38
396		LWG005	Low-Grade Astrocytoma	38
397	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	38
398		ALG027	Al-Gazali-Bakalinova Syndrome	38
399		AMN006	Aminoaciduria	38
400		FSR001	Fusariosis	38
401		CRT055	Creatine Deficiency Syndromes	38
402		SPC031	Specific Learning Disability	38
403	c	CND011	Cone Dystrophy 3	38
404		MRN002	Mooren's Ulcer	38
405		GNT006	Giant Papillary Conjunctivitis	38
406		CRD016	Cardiac Rupture	38
407	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	38
408	P	CNT009	Central Core Myopathy	38
409	c	CHR091	Chronic Meningitis	38
410		KNZ001	Kanzaki Disease	37
411		CLC008	Colchicine Resistance	37
412		OCH001	Ochronosis	37
413		PTT045	Pituitary Hormone Deficiency, Combined, 1	37
414		MNN021	Meningococcemia	37
415	P	CNG048	Congenital Hepatic Fibrosis	37
416	c	CHR020	Chronic Interstitial Cystitis	37
417		BLP004	Blepharophimosis	37
418		NNL001	Non-Langerhans-Cell Histiocytosis	37
419	c	SCH080	Schizophrenia 3	37
420		STR077	Streptococcal Toxic-Shock Syndrome	37
421		PRT048	Partial Atrioventricular Canal	37
422	c	RTN048	Retinitis Pigmentosa 19	37
423		SPN331	Spondyloocular Syndrome	37
424		MYT003	Myotonic Disease	37
425	c	GLM047	Glioma Susceptibility 3	37
426		MTC112	Mitochondrial Dna-Associated Leigh Syndrome	37
427		MYC017	Mycobacterium Kansasii	37
428	c	RTN052	Retinitis Pigmentosa 23	37
429	c	BNG021	Benign Essential Hypertension	37
430	c	HYP510	Hyperekplexia 2	37
431		SYN086	Synostoses, Tarsal, Carpal, and Digital	36
432		SHW001	Shwartzman Phenomenon	36
433	c	SYN084	Synpolydactyly 1	36
434		HRY002	Hairy Tongue	36
435	P	BRT040	Baraitser-Winter Syndrome	36
436		PDT025	Pediatric Multiple Sclerosis	36
437		UVL010	Uveal Disease	36
438	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	36
439		RVL002	Ruvalcaba Syndrome	36
440		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	36
441	c	ELL005	Elliptocytosis 2	36
442	c	RNG004	Ring Chromosome 1	36
443		HMM005	Hemimelia	36
444	P	OVR075	Ovarian Dysgenesis 1	36
445		PLY036	Polyembryoma	36
446	c	NGH027	Night Blindness, Congenital Stationary, Type 1c	36
447	P	SYN059	Syndactyly, Type V	36
448		MTG002	Mutagen Sensitivity	36
449	c	ALB015	Albinism, Oculocutaneous, Type V	36
450	P	FML168	Familial Isolated Pituitary Adenoma	36
451	c	CTR174	Cataract 40	36
452	c	MCR329	Microcephaly, Autosomal Dominant	36
453		ARG001	Argentine Hemorrhagic Fever	36
454		CNT057	Central Centrifugal Cicatricial Alopecia	36
455	c	PRM015	Primary Cerebellar Degeneration	36
456	c	RTN106	Retinitis Pigmentosa 51	36
457	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	36
458		ASC009	Ascites, Chylous	36
459		ISL109	Isolated Cleft Lip	36
460		BRN041	Bornholm Eye Disease	36
461	c	CLR135	Ciliary Dyskinesia, Primary, 7	35
462	c	KRT029	Keratoconus 1	35
463	P	DNT007	Dentin Sensitivity	35
464	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	35
465		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	35
466	P	HVY001	Heavy Chain Disease	35
467	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	35
468	c	HRD171	Hereditary Pulmonary Alveolar Proteinosis	35
469		CRB079	Cerebrospinal Fluid Leak	35
470		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	35
471		MTC019	Metachromatic Leukodystrophy Due to Saposin B Deficiency	35
472		LCT013	Lactase Deficiency, Congenital	35
473		FST010	Fasting Hypoglycemia	35
474	c	CTR095	Cataract 8, Multiple Types	35
475		PCT001	Pectus Carinatum	35
476		LNR004	Linear Porokeratosis	35
477	c	RTN046	Retinitis Pigmentosa 17	35
478	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	35
479		ATH010	Athyreosis	35
480	c	PRM149	Primary Hypereosinophilic Syndrome	35
481	c	RTN159	Retinitis Pigmentosa 45	35
482		HYD048	Hydrocephalus with Stenosis of the Aqueduct of Sylvius	35
483		CHR178	Chromosomal Triplication	35
484	c	MCR124	Microphthalmia, Isolated 1	35
485	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	35
486		LPB001	Lipoblastoma	34
487		AMR003	Amaurosis Fugax	34
488		HMR015	Humeroradial Synostosis	34
489		HNS001	Hansen's Disease	34
490		HYP679	Hypoglossia-Hypodactylia	34
491		BTH002	Bothnia Retinal Dystrophy	34
492		WBR001	Weber Syndrome	34
493	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	34
494	P	LNS003	Lens Disease	34
495		BWN003	Bowenoid Papulosis	34
496	c	HYP525	Hypotrichosis 2	34
497		HMP018	Hemophilic Arthropathy	34
498	c	CTR145	Cataract 44	34
499	c	BRG006	Brugada Syndrome 2	34
500		NNT024	Neonatal Stroke	34
501	c	RTN136	Retinitis Pigmentosa 44	34
502	P	DYS023	Dyschromatosis Universalis Hereditaria	34
503		SYN089	Syndromic X-Linked Intellectual Disability Snyder Type	34
504	c	RTN057	Retinitis Pigmentosa 29	34
505		ALZ030	Alazami Syndrome	34
506		DRR017	Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies	34
507	c	LBR029	Leber Congenital Amaurosis 17	34
508	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	34
509		PKL002	Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis	34
510		STC004	Stachybotrys Chartarum	34
511		47X003	47, Xxy	34
512	P	46X071	46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect	34
513	P	HRD214	Hereditary Periodic Fever Syndrome	34
514	c	RST012	Restless Legs Syndrome 1	34
515	c	ACQ047	Acquired Methemoglobinemia	34
516	c	HYP577	Hypotrichosis 13	34
517		LCH013	Lichen Planus Pemphigoides	34
518		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	34
519		MYC069	Myoclonic-Astastic Epilepsy	34
520	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	34
521	c	RTN171	Retinitis Pigmentosa 59	34
522		SYN106	Syndromic Craniosynostosis	34
523	c	MCR245	Microphthalmia, Syndromic 8	34
524	c	CNT101	Central Congenital Hypothyroidism	34
525		PPL050	Papillary Tumor of the Pineal Region	33
526	c	SPS021	Spastic Paraplegia 10	33
527	c	MCL038	Macular Degeneration, Age-Related, 4	33
528	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	33
529		MNS001	Mansonelliasis	33
530		LMN011	Laminopathy	33
531	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	33
532	c	SPL070	Split-Hand/foot Malformation 2	33
533		PRX009	Paroxysmal Hemicrania	33
534		FLP001	Filippi Syndrome	33
535		MYP093	Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset	33
536	c	STS007	Sotos Syndrome 2	33
537	c	WLL040	Weill-Marchesani Syndrome 4	33
538		MTH086	Methotrexate Toxicity	33
539	c	CLR066	Ciliary Dyskinesia, Primary, 2	33
540	c	DBT079	Diabetes Mellitus, Insulin-Dependent, 21	33
541	c	BRG012	Brugada Syndrome 9	33
542		NNN007	Non-Involuting Congenital Hemangioma	33
543		CMP040	Complement Component 4, Partial Deficiency of	33
544		RHM034	Rahman Syndrome	33
545		PRG023	Progeroid Short Stature with Pigmented Nevi	33
546		GRN022	Granulosa Cell Tumor of the Ovary	33
547		WRT003	Warthin Tumor	33
548		MCR355	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy	33
549	P	CXV002	Coxa Vara	33
550		MCR099	Microlissencephaly	33
551		MDM001	Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency	33
552	c	ATM045	Autoimmune Glomerulonephritis	33
553	c	SCH083	Schizophrenia 7	33
554		SVR058	Severe Early-Childhood-Onset Retinal Dystrophy	33
555	c	BCT006	Bacterial Conjunctivitis	33
556	c	DBT053	Diabetes Mellitus, Insulin-Dependent, 23	33
557	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	33
558		SCR039	Scorpion Envenomation	33
559		MSC020	Mosaic Trisomy 8	33
560		CHL107	Childhood-Onset Nemaline Myopathy	33
561		SPT023	Septate Uterus	33
562		TXC020	Toxic Oil Syndrome	33
563		NNS011	Nonseminomatous Germ Cell Tumor	33
564		MLT150	Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia	33
565	c	RTN146	Retinitis Pigmentosa 62	33
566	c	ELL006	Elliptocytosis 3	33
567		VRS002	Virus-Associated Trichodysplasia Spinulosa	32
568		CND006	Candida Glabrata	32
569		BWN006	Bowen's Disease	32
570		LPD026	Lipedema	32
571		ODN005	Odontogenic Myxoma	32
572		BRN133	Bronchomalacia	32
573	c	NGH021	Night Blindness, Congenital Stationary, Autosomal Dominant 1	32
574	c	BRG008	Brugada Syndrome 6	32
575	P	PLY188	Polyendocrinopathy	32
576		OPH002	Ophthalmia Neonatorum	32
577	P	SCL047	Sclerocornea	32
578		TRC007	Tricuspid Valve Prolapse	32
579	c	EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	32
580		CHR377	Chromosome 10q26 Deletion Syndrome	32
581	P	ATX039	Ataxia-Pancytopenia Syndrome	32
582		ISL096	Isolated Klippel-Feil Syndrome	32
583		ASH001	Asherman's Syndrome	32
584	c	MLG039	Malignant Essential Hypertension	32
585	c	CNR003	Cone-Rod Dystrophy 1	32
586		TBL008	Tibial Hemimelia	32
587		TRC035	Tracheal Agenesis	32
588		BJL001	Bejel	32
589	c	INF089	Inflammatory Bowel Disease 6	32
590	c	TRN009	Transient Hypogammaglobulinemia of Infancy	32
591		PNC059	Punctate Inner Choroidopathy	32
592		DYS001	Dyskinetic Cerebral Palsy	32
593		WLD005	Wild Type Attr Amyloidosis	32
594	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	32
595		PLY138	Polymerase Proofreading-Related Adenomatous Polyposis	32
596		MYC014	Mycobacterium Chelonae	32
597		HMN002	Human Granulocytic Anaplasmosis	32
598		ODN006	Odontoma	32
599	c	HYP576	Hypotrichosis 4	31
600		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	31
601	c	DSB005	Desbuquois Dysplasia 2	31
602		GLY061	Glycogen Storage Disease 0, Muscle	31
603	c	CRN209	Cornelia De Lange Syndrome 5	31
604		HRD218	Hereditary Stomatocytosis	31
605		ATR048	Atrial Tachyarrhythmia with Short Pr Interval	31
606	c	CNR013	Cone-Rod Dystrophy 12	31
607		PNT003	Pinta Disease	31
608		CMB017	Combined Oxidative Phosphorylation Deficiency 6	31
609		MYC015	Mycobacterium Fortuitum	31
610	c	HYP515	Hypotrichosis 3	31
611		HGH020	High Molecular Weight Kininogen Deficiency	31
612		INT104	Intravascular Papillary Endothelial Hyperplasia	31
613	c	ADL019	Adult Fibrosarcoma	31
614		EXN003	Exencephaly	31
615		RFR009	Refractory Cytopenia with Multilineage Dysplasia	31
616	c	CNR006	Cone-Rod Dystrophy 5	31
617		LCH014	Lichen Amyloidosis	31
618	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	31
619		PMP009	Pemphigus Erythematosus	31
620		HGH041	High-Grade Astrocytoma	31
621		MXD032	Mixed Germ Cell Tumor	31
622		SPR034	Superior Limbic Keratoconjunctivitis	31
623		ELS002	Elastosis Perforans Serpiginosa	31
624		ATY016	Atypical Werner Syndrome	31
625		ISL061	Isolated Brachycephaly	31
626	c	CTR097	Cataract 34, Multiple Types	31
627	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	31
628	c	JVN038	Juvenile Myasthenia Gravis	31
629		CHL078	Childhood-Onset Schizophrenia	31
630		CRB091	Cerebro-Oculo-Facio-Skeletal Syndrome	31
631		MCR379	Microcystic Stromal Tumor	31
632	c	BLR024	Biliary Cirrhosis, Primary, 1	30
633	c	JBR045	Joubert Syndrome 33	30
634	c	PRX051	Peroxisome Biogenesis Disorder 6a	30
635		STT009	Sutton Disease 2	30
636		RST024	Rosette-Forming Glioneuronal Tumor	30
637		PYR016	Pyridoxine Deficiency	30
638		WRF003	Warfarin Syndrome	30
639	c	SCK033	Seckel Syndrome 8	30
640		MTR087	Maternal Uniparental Disomy	30
641		ENC014	Enchondroma	30
642		SNG003	Single Ventricular Heart	30
643	c	CTS031	Cutis Laxa, Autosomal Dominant 2	30
644	c	GLM043	Glioma Susceptibility 9	30
645		DPH003	Diphyllobothriasis	30
646		PST044	Postorgasmic Illness Syndrome	30
647	c	RTN130	Retinitis Pigmentosa 46	30
648		SGR001	Sugarman Brachydactyly	30
649	c	INT274	Intermediate Congenital Nemaline Myopathy	30
650		MSC021	Mosaic Trisomy 9	30
651		MTH047	Methanol Poisoning	30
652		GBR007	Gabriele-De Vries Syndrome	30
653	c	SCH053	Schizophrenia 13	30
654	c	CRN215	Cornelia De Lange Syndrome 4	30
655	c	CNG562	Congenital Hypogonadotropic Hypogonadism	30
656		PRP038	Properdin Deficiency, X-Linked	30
657		AML065	Amelia	30
658		LMB010	Lambert Syndrome	30
659	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	30
660		SLR005	Solar Urticaria	30
661	P	DVL012	Developmental Dysplasia of the Hip 1	30
662		INN003	Iniencephaly	30
663		MYP064	Myopericytoma	30
664		RSP007	Respiratory Distress Syndrome, Infant	30
665	P	MTR051	Maternal Uniparental Disomy of Chromosome 1	30
666	c	RTN178	Retinitis Pigmentosa 72	30
667	c	ACT047	Acute Endophthalmitis	30
668	c	CNR039	Cone-Rod Dystrophy, X-Linked, 2	30
669		CLC010	Calcifying Epithelial Odontogenic Tumor	30
670	c	GLP004	Geleophysic Dysplasia 2	30
671	P	VTR008	Vitreoretinal Degeneration	30
672	c	USH043	Usher Syndrome, Type Ih	30
673		GNT019	Giant Cell Myocarditis	30
674		ENG004	Engraftment Syndrome	30
675	c	ERL002	Early Congenital Syphilis	29
676		RNG003	Ring Dermoid of Cornea	29
677		ACT228	Acute Radiation Syndrome	29
678	P	NYS017	Nystagmus 1, Congenital, X-Linked	29
679	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	29
680		GRN033	Granulomatous Mastitis	29
681		CHR487	Chromosome 8q21.11 Deletion Syndrome	29
682	P	ADL037	Adult Xanthogranuloma	29
683		HYM001	Hymenolepiasis	29
684	c	RTN067	Retinitis Pigmentosa 41	29
685	c	USH030	Usher Syndrome, Type Ik	29
686		MYC088	Mycobacterium Avium Complex Infections	29
687		CHR270	Chromosome 9p Duplication	29
688	c	EPS014	Episodic Ataxia, Type 3	29
689		SPN340	Spontaneous Intracranial Hypotension	29
690	c	WRD010	Waardenburg Syndrome Type 4	29
691		LPG001	Lipogranulomatosis	29
692	c	CLR069	Ciliary Dyskinesia, Primary, 8	29
693	c	ALC016	Alcohol Sensitivity, Acute	29
694		CRD054	Cardiac Arrhythmia, Ankyrin-B-Related	29
695		CLF049	Cleft Lip and Alveolus	29
696	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	29
697	c	RTN160	Retinitis Pigmentosa 60	29
698		ART158	Arthrogryposis Multiplex Congenita, Myogenic Type	29
699	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	29
700		SCR024	Sacrococcygeal Teratoma	29
701		HYP808	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration	29
702	c	BRW008	Brown-Vialetto-Van Laere Syndrome 2	29
703	c	RTN149	Retinitis Pigmentosa 42	29
704	c	CLR067	Ciliary Dyskinesia, Primary, 4	29
705		MYC019	Mycobacterium Marinum	29
706	c	ERL003	Early Onset Absence Epilepsy	29
707		PTT063	Pattern Dystrophy	29
708		CRN051	Craniofacial Microsomia	29
709		WLL012	Williams-Beuren Region Duplication Syndrome	29
710		TRP020	Tropical Endomyocardial Fibrosis	29
711	c	MCL030	Macular Degeneration, Age-Related, 10	29
712		TTR023	Tetraamelia-Multiple Malformations Syndrome	29
713	c	ORF027	Orofacial Cleft 11	29
714		PST092	Posttransplant Acute Limbic Encephalitis	29
715	c	TYP010	Type C Thymoma	28
716	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	28
717	c	LCL005	Localized Chondrosarcoma	28
718	c	HYP565	Hypogonadotropic Hypogonadism 3 with or Without Anosmia	28
719	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	28
720		MCR302	Macrostomia, Isolated	28
721	c	PLM128	Pulmonary Hypertension, Primary, 2	28
722		ACD011	Acid Phosphatase Deficiency	28
723	c	RNG022	Ring Chromosome 6	28
724		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	28
725		ACR099	Acrofacial Dysostosis, Catania Type	28
726	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	28
727		ANG050	Angiocentric Glioma	28
728		ERY066	Erythema Multiforme Major	28
729	c	BNG012	Benign Mesenchymoma	28
730	P	CRB210	Cerebrofacial Arteriovenous Metameric Syndrome	28
731		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	28
732		PTT016	Patterson Pseudoleprechaunism Syndrome	28
733		CLB009	Coloboma of Iris	28
734		RNL118	Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness	28
735	c	HYP528	Hypotrichosis 11	28
736		GLT028	Glutaric Aciduria Iii	28
737		LYS029	Lysosomal Disease	28
738	c	INF019	Infectious Anterior Uveitis	28
739		16Q001	16q24.3 Microdeletion Syndrome	28
740		ATH004	Athetosis	28
741	c	RTN116	Retinitis Pigmentosa 56	28
742	c	PRX048	Peroxisome Biogenesis Disorder 10a	28
743		LRY026	Laryngeal Cleft	28
744	P	RTS001	Ritscher-Schinzel Syndrome	28
745	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	28
746	c	PRT063	Proteus-Like Syndrome	28
747		CHR229	Chromosome 20p Duplication	28
748	c	PLM121	Pulmonary Hypertension, Primary, 4	28
749		CNG065	Congenital Contractures	28
750		PDT027	Pediatric Ulcerative Colitis	28
751		ARG004	Argyria	28
752		END051	Endolymphatic Sac Tumor	28
753		PRX090	Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy	28
754		HLP004	Holoprosencephaly, Recurrent Infections, and Monocytosis	27
755		CHR588	Chromosome 8q22.1 Duplication Syndrome	27
756		TRC038	Tracheobronchomegaly	27
757		HRY005	Hairy Elbows	27
758		KLB004	Klebsiella Infection	27
759	c	RTN190	Retinitis Pigmentosa 76	27
760	c	RNG016	Ring Chromosome 20	27
761		MCR365	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2	27
762	c	ACQ043	Acquired Lipodystrophy	27
763		LSN002	Loose Anagen Hair Syndrome	27
764		CYC002	Cyclosporiasis	27
765		KCN010	Kcnq2-Related Disorders	27
766		PRM050	Primary Orthostatic Tremor	27
767	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	27
768		HYP644	Hypocalcified Amelogenesis Imperfecta	27
769		CTR027	Cataract-Glaucoma	27
770		XLN235	X-Linked Intellectual Disability with Marfanoid Habitus	27
771	P	MYM016	Moyamoya Angiopathy	27
772		HMN001	Human Monocytic Ehrlichiosis	27
773	c	FRN032	Frontonasal Dysplasia 3	27
774		PTN004	Patent Ductus Venosus	27
775		CBB002	Cobb Syndrome	27
776		PLS031	Plastic Bronchitis	27
777	P	PPL023	Pupil Disease	27
778	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	27
779		QLT008	Qualitative or Quantitative Defects of Dysferlin	27
780		KYS001	Kyasanur Forest Disease	27
781		ART030	Aortic Arch Interruption	27
782	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	27
783		CYT018	Cytochrome P450 2d6 Variant	27
784		CHR393	Chromosome 19p13.13 Deletion Syndrome	27
785	c	ANM033	Anemia, Sideroblastic, 2, Pyridoxine-Refractory	27
786		NRL008	Neural Crest Tumor	27
787		SPN358	Spondyloepimetaphyseal Dysplasia, X-Linked	27
788		FGS002	Fg Syndrome 2	27
789		PTY007	Pityriasis Rotunda	27
790	c	CTR158	Cataract 37	27
791		CHR265	Chromosome 8p Duplication	27
792	c	RTN068	Retinitis Pigmentosa 6	27
793		THR032	Thoracolaryngopelvic Dysplasia	27
794	c	RTN065	Retinitis Pigmentosa 36	27
795	P	ACR093	Acrofrontofacionasal Dysostosis	27
796	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
797	c	ERL012	Early-Onset Glaucoma	27
798	c	CHR565	Chromosomal Deletion Syndrome	27
799		HMC001	Homocarnosinosis	27
800		PSD026	Pseudoainhum	27
801		DFC001	Defective Apolipoprotein B-100	27
802		MLD011	Mild Hyperphenylalaninemia	27
803		UNL005	Unilateral Polymicrogyria	27
804		CRL001	Cerulean Cataract	27
805	c	RTN213	Retinitis Pigmentosa 80	27
806		RFR007	Refractory Anemia with Excess Blasts in Transformation	27
807		CMB071	Combined Oxidative Phosphorylation Deficiency 27	27
808		LPD001	Lipid Pneumonia	27
809		MST020	Mast Cell Activation Syndrome	27
810	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	27
811		HTT002	Hutterite Cerebroosteonephrodysplasia Syndrome	27
812		CRT028	Cor Triatriatum	27
813	P	CRY006	Cryofibrinogenemia	26
814		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	26
815	P	SPS012	Spastic Paraplegia 3a	26
816		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	26
817	c	RTN169	Retinitis Pigmentosa 70	26
818		BNG077	Benign Idiopathic Neonatal Seizures	26
819	c	HRD186	Hereditary Spastic Paraplegia 51	26
820	c	MLG036	Malignant Spiradenoma	26
821	c	LNG052	Long Qt Syndrome 8	26
822		CMB015	Combined Oxidative Phosphorylation Deficiency 4	26
823		SRN002	Sirenomelia	26
824		IGP001	Iga Pemphigus	26
825	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	26
826		MYC018	Mycobacterium Malmoense	26
827		NCR001	Necrotizing Ulcerative Gingivitis	26
828		THY098	Thyroid Ectopia	26
829		2MN001	2-Aminoadipic 2-Oxoadipic Aciduria	26
830	c	DMN024	Diamond-Blackfan Anemia 7	26
831	c	HML035	Hemolytic Uremic Syndrome, Atypical 2	26
832		CHR209	Chromosome 17p Duplication	26
833		GMM011	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to	26
834	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	26
835		ACT094	Acute Articular Rheumatism	26
836		PRT085	Peritoneal Cystic Mesothelioma	26
837		STR093	Striatonigral Degeneration, Childhood-Onset	26
838	c	TRC071	Treacher Collins Syndrome 3	26
839		PTY004	Pityriasis Lichenoides	26
840		PRX086	Paroxysmal Exertion-Induced Dyskinesia	26
841	c	CTR111	Cataract 36	26
842		CHR248	Chromosome 4p Duplication	26
843	c	BSL030	Basal Encephalocele	26
844		CTR014	Cataract Microcornea Syndrome	26
845	c	CLR104	Ciliary Dyskinesia, Primary, 15	26
846		ASB003	Asbestos Intoxication	26
847		HML052	Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency	26
848	c	ADL080	Adult Acute Respiratory Distress Syndrome	26
849	c	HYP538	Hypogonadotropic Hypogonadism 17 with or Without Anosmia	26
850	c	LPR007	Leopard Syndrome 3	26
851	c	PRK098	Parkinson Disease 5, Autosomal Dominant	26
852		CRN042	Carnosinemia	26
853		ATS301	Autosomal Dominant Epilepsy with Auditory Features	26
854		CMP035	Complete Atrioventricular Canal	26
855	c	CLR053	Ciliary Dyskinesia, Primary, 11	26
856		AML011	Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2	26
857	c	ATS370	Autism 3	26
858		HRD037	Hardikar Syndrome	26
859	c	DMN019	Diamond-Blackfan Anemia 4	26
860		CHR621	Chromosome 16p11.2 Deletion Syndrome, 593-Kb	26
861		CRY010	Cryptophthalmos	25
862		THY042	Thymic Epithelial Tumor	25
863		FBR085	Fibrillary Glomerulonephritis	25
864	c	MYP098	Myopathy, Centronuclear, 4	25
865	c	CLR097	Ciliary Dyskinesia, Primary, 23	25
866	c	DYS139	Dyschromatosis Universalis Hereditaria 3	25
867		IRN007	Irinotecan Toxicity	25
868	c	JBR040	Joubert Syndrome 30	25
869		MYC021	Mycobacterium Xenopi	25
870		HSB001	His Bundle Tachycardia	25
871		CHR212	Chromosome 18p Duplication	25
872		NKJ001	Nakajo Syndrome	25
873	c	RTN063	Retinitis Pigmentosa 34	25
874		MTH040	Methylmalonyl-Coa Epimerase Deficiency	25
875		INV018	Invasive Mole	25
876		CMB048	Combined Oxidative Phosphorylation Deficiency 15	25
877		PRQ002	Paraquat Poisoning	25
878	c	BRD051	Bardet-Biedl Syndrome 20	25
879	c	CLR125	Ciliary Dyskinesia, Primary, 33	25
880		CRB160	Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes	25
881		ESN022	Eosinophilic Colitis	25
882		GRD004	Gardner-Diamond Syndrome	25
883		URD002	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	25
884		WLD006	Wild Type Abeta2m Amyloidosis	25
885	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	25
886	c	INF018	Inflammatory Liposarcoma	25
887		DRM043	Dermochondrocorneal Dystrophy	25
888		DVL022	Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair	25
889		HRP008	Herpes Simiae	25
890		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	25
891		PSD030	Pseudodiastrophic Dysplasia	25
892		MTC036	Mitochondrial Membrane Protein-Associated Neurodegeneration	25
893		PLM061	Pulmonary Edema of Mountaineers	25
894		GNT043	Genitopalatocardiac Syndrome	25
895		CHR252	Chromosome 5p Duplication	25
896		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	25
897	c	CFF013	Coffin-Siris Syndrome 8	25
898		CHR167	Chorioretinal Atrophy, Progressive Bifocal	25
899		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	25
900	c	EPL154	Epilepsy, Progressive Myoclonic, 9	25
901		BRT037	Brittle Diabetes	25
902		TTR027	Tetrasomy 15q26	25
903	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	25
904	c	CRN280	Cornea Plana 2, Autosomal Recessive	25
905		CNG506	Congenital Amyoplasia	25
906		CMB091	Combined Oxidative Phosphorylation Deficiency 39	25
907		NNT021	Neonatal Meningitis	25
908	c	DRR021	Diarrhea 11, Malabsorptive, Congenital	25
909	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	25
910	c	PRM089	Premature Ovarian Failure 3	25
911	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	25
912	c	ATR067	Atrioventricular Septal Defect 4	25
913		MYC001	Myoclonic Cerebellar Dyssynergia	25
914	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	25
915		MDL024	Madelung Deformity	25
916	c	PSR025	Psoriasis 4	25
917	c	FNC061	Fanconi Anemia, Complementation Group W	25
918	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	25
919		OBS895	Obsolete: Rapidly Progressive Glomerulonephritis	24
920		GRH005	Graham-Little-Piccardi-Lassueur Syndrome	24
921	c	CNR027	Cone-Rod Dystrophy 17	24
922		SPR067	Sporadic Adult-Onset Ataxia of Unknown Etiology	24
923	c	PLY141	Polycystic Kidney Disease 5	24
924		PLY110	Polymicrogyria, Bilateral Temporooccipital	24
925	c	CLR117	Ciliary Dyskinesia, Primary, 32	24
926	c	MNS008	Monosomy 21	24
927	c	FRS016	Fraser Syndrome 2	24
928		CTN016	Cutaneous Larva Migrans	24
929		MRN005	Marie Unna Congenital Hypotrichosis	24
930		FNC050	Functioning Gonadotropic Adenoma	24
931		STR029	Sternal Cleft	24
932	c	ATM067	Autoimmune Polyendocrinopathy Type 3	24
933		SRP002	Serpiginous Choroiditis	24
934	c	ALP099	Alopecia, Congenital	24
935	P	KRT014	Keratosis Follicularis Spinulosa Decalvans	24
936		HYP213	Hypomelanotic Disorder	24
937	c	HYP444	Hypogonadotropic Hypogonadism 9 with or Without Anosmia	24
938		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	24
939		ADD006	Adducted Thumbs Syndrome	24
940	c	ORF028	Orofacial Cleft 10	24
941		RCK003	Rickettsialpox	24
942	c	DYS090	Dyschromatosis Universalis Hereditaria 1	24
943	P	UNP013	Uniparental Disomy of Chromosome 1	24
944		ERY023	Erythroplakia	24
945	P	PPL026	Papular Mucinosis	24
946		HMP028	Hemophagocytic Syndrome Associated with an Infection	24
947	c	SCK037	Seckel Syndrome 9	24
948	P	MTC140	Mitochondrial Dna Maintenance Defects	24
949	c	ATS451	Autosomal Recessive Cutis Laxa Type 2	24
950	c	CLR098	Ciliary Dyskinesia, Primary, 27	24
951		CNG418	Congenital Intrauterine Infection-Like Syndrome	24
952	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	24
953	c	SNR004	Senior-Loken Syndrome 4	24
954		UND004	Undetermined Colitis	24
955	c	WLL018	Woolly Hair, Autosomal Dominant	24
956	c	INF082	Inflammatory Bowel Disease 23	24
957		ACT239	Acetyl-Coa Acetyltransferase-2 Deficiency	24
958		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	24
959	c	PRR022	Perrault Syndrome 2	24
960	c	ANT010	Anterior Compartment Syndrome	24
961		MYP114	Myopathy, Scapulohumeroperoneal	24
962	c	LPR011	Leopard Syndrome 2	24
963	c	CLR099	Ciliary Dyskinesia, Primary, 16	24
964		BCR002	Bicornuate Uterus	24
965	c	ACR105	Acrofrontofacionasal Dysostosis 2	24
966		ACT120	Acute Zonal Occult Outer Retinopathy	24
967		CHR159	Charlie M Syndrome	24
968	c	VNT026	Ventricular Septal Defect 2	24
969	c	INF185	Infantile Epilepsy Syndrome	24
970		DRG016	Drug Induced Dyskinesia	24
971		HYP181	Hypertrichosis Lanuginosa, Acquired	24
972		HRN018	Hearing Loss, Cisplatin-Induced	24
973	c	ATS438	Autosomal Recessive Spastic Ataxia	24
974	c	WSK002	Wiskott-Aldrich Syndrome 2	24
975		PRG116	Progressive Supranuclear Palsy-Corticobasal Syndrome	24
976	c	JVN047	Juvenile Spondyloarthropathy	24
977	c	ORF047	Orofacial Cleft 15	24
978		ART037	Arthrogryposis and Ectodermal Dysplasia	24
979	c	LTH032	Lethal Congenital Contracture Syndrome 7	24
980		FBR023	Fibrinogen Deficiency, Congenital	24
981	c	MYM004	Moyamoya Disease 2	24
982		PHS028	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	24
983		KR001	Koro	24
984	c	ATS168	Autosomal Dominant Congenital Stationary Night Blindness	24
985	c	ATS365	Autism X-Linked 1	24
986	c	DYS138	Dystonia 21	24
987		CYN003	Cyanide Poisoning	24
988		NNT018	Neonatal Herpes	24
989		LLS001	Lelis Syndrome	24
990	c	LTH029	Lethal Congenital Contracture Syndrome 9	24
991		JMP002	Jumping Frenchmen of Maine	24
992		BRN129	Branchial Cleft Anomalies	24
993		ELC001	Elective Mutism	23
994		TRG006	Trigger Thumb	23
995		INT095	Internal Carotid Agenesis	23
996		HYP144	Hyperacusis	23
997	c	ANX008	Anauxetic Dysplasia 2	23
998	c	SYS038	Systemic Lupus Erythematosus 2	23
999	P	STR035	Streptococcal Group a Invasive Disease	23
1000		CLC053	Colchicine Poisoning	23
1001	c	HML037	Hemolytic Uremic Syndrome, Atypical 5	23
1002	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	23
1003	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	23
1004	c	ACR103	Acrofrontofacionasal Dysostosis 1	23
1005		CMB013	Combined Oxidative Phosphorylation Deficiency 2	23
1006		DSM006	Desmoplastic Infantile Ganglioglioma	23
1007		OBS635	Obsolete: Laryngeal Dyskinesia	23
1008		CMB065	Combined Oxidative Phosphorylation Deficiency 26	23
1009		PTR034	Paternal Uniparental Disomy	23
1010		MNR004	Mounier-Kuhn Syndrome	23
1011		BLP009	Blepharonasofacial Malformation Syndrome	23
1012		CMP041	Complement Factor D Deficiency	23
1013		SDD004	Sudden Arrhythmia Death Syndrome	23
1014		CLC064	Calcifying Aponeurotic Fibroma	23
1015		HRP011	Herpes Zoster Ophthalmicus	23
1016	P	MCL035	Macular Dystrophy, Retinal, 2	23
1017	c	SPN323	Spinocerebellar Ataxia 41	23
1018		SNC001	Sunct Headache	23
1019		LPY002	Lipoyltransferase 1 Deficiency	23
1020	c	ATS169	Autosomal Recessive Congenital Stationary Night Blindness	23
1021	c	SYN088	Synpolydactyly 2	23
1022		NCL007	Nuclear Gene-Encoded Leigh Syndrome	23
1023		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	23
1024		EXR007	Exercise-Induced Anaphylaxis	23
1025	c	MCR228	Microphthalmia, Syndromic 13	23
1026	c	RTN061	Retinitis Pigmentosa 32	23
1027		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	23
1028	c	PRK096	Parkinson Disease 13, Autosomal Dominant	23
1029	c	DMN005	Diamond-Blackfan Anemia 2	23
1030		TRC037	Tracheobronchomalacia	23
1031		CHR616	Chromosome 19q13.11 Deletion Syndrome, Distal	23
1032		HYP722	Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	23
1033		LCT017	Lactate Dehydrogenase B Deficiency	23
1034		RTR012	Retroperitoneal Liposarcoma	23
1035	c	EXD007	Exudative Vitreoretinopathy 3	23
1036		CMB076	Combined Oxidative Phosphorylation Deficiency 31	23
1037	c	GNR020	Gne-Related Myopathy	23
1038	c	MCL051	Macular Degeneration, Age-Related, 12	23
1039	c	PRM192	Premature Ovarian Failure 8	23
1040		FCC002	Faciocardiorenal Syndrome	23
1041		KYR001	Kyrle Disease	23
1042	c	STC012	Stickler Syndrome, Type Iv	23
1043		STR007	Stress Polycythemia	23
1044		HGH021	Hughes-Stovin Syndrome	23
1045		GLC001	Glaucomatocyclitic Crisis	23
1046		VBR003	Vibrio Vulnificus Infection	23
1047	c	DMN029	Diamond-Blackfan Anemia 11	23
1048		CHR610	Chromosome 10q22.3-Q23.2 Deletion Syndrome	23
1049	P	MCL058	Macular Degeneration, Early-Onset	23
1050		DPS001	Dipsogenic Diabetes Insipidus	23
1051		CNG092	Congenital Extrahepatic Portosystemic Shunt	23
1052		ULC008	Ulcerative Proctitis	23
1053		TTR019	Tetrasomy 5p	23
1054		KRT020	Keratoconus Posticus Circumscriptus	23
1055	c	LPR023	Leprosy 1	23
1056	c	CLR101	Ciliary Dyskinesia, Primary, 25	23
1057	c	ASP032	Asperger Syndrome 1	23
1058	c	CTR165	Cataract 19, Multiple Types	23
1059		CRS011	Criss-Cross Heart	23
1060	c	INF073	Inflammatory Bowel Disease 12	23
1061	c	CLR138	Ciliary Dyskinesia, Primary, 38	23
1062		DBL004	Double Discordia	23
1063	c	CTR110	Cataract 26, Multiple Types	23
1064		CHR208	Chromosome 17p Deletion	23
1065		DMD001	Demodicidosis	23
1066	c	MLT093	Multiple Sclerosis 2	23
1067		ERY043	Euryblepharon	23
1068	P	RTN220	Retinal Ciliopathy	23
1069	P	HYD015	Hydroa Vacciniforme	23
1070	c	EXD010	Exudative Vitreoretinopathy 6	23
1071	P	QLT011	Qualitative or Quantitative Defects of Sarcoglycan	22
1072		HML054	Hemolytic Disease Due to Fetomaternal Alloimmunization	22
1073		PST040	Posterior Column Ataxia	22
1074	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	22
1075	P	PLM064	Pulmonary Sequestration	22
1076		8P2002	8p23.1 Duplication Syndrome	22
1077		INT093	Interferon Gamma, Receptor 1, Deficiency	22
1078	c	RDC016	Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset	22
1079	c	GLL042	Galloway-Mowat Syndrome 5	22
1080	c	CRB209	Cerebellar Malformation	22
1081	c	DBT094	Diabetes Mellitus, Insulin-Dependent, 10	22
1082		PLS037	Plasma Cell Tumor	22
1083		DPR014	Diprosopus	22
1084		ART109	Arterial Thoracic Outlet Syndrome	22
1085		PLR024	Pilarowski-Bjornsson Syndrome	22
1086	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	22
1087		PSD043	Pseudopelade of Brocq	22
1088		MTC115	Mitochondrial Myopathy, Lethal, Infantile	22
1089		EXF002	Exfoliative Ichthyosis	22
1090	c	TRC099	Trichothiodystrophy 2, Photosensitive	22
1091		OBS168	Obsolete: Atypical Teratoid/rhabdoid Tumor	22
1092		HVY002	Heavy Metal Poisoning	22
1093		CHR247	Chromosome 4p Deletion	22
1094		ORF053	Orofacial Clefting Syndrome	22
1095	c	KRT073	Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	22
1096	c	PRG137	Paragangliomas 6	22
1097	c	ICH014	Ichthyosis Lamellar 1	22
1098		PST047	Post-Traumatic Epilepsy	22
1099	c	UVS003	Uv-Sensitive Syndrome 3	22
1100		ADS015	Aids Wasting Syndrome	22
1101	c	NNT025	Neonatal Systemic Lupus Erythematosus	22
1102	c	ATS369	Autism 8	22
1103	c	TYP029	Type 1 Diabetes Mellitus 3	22
1104	c	CLR126	Ciliary Dyskinesia, Primary, 35	22
1105		XLN179	X-Linked Intellectual Disability, Turner Type	22
1106		AND005	Androgen Insensitivity Syndrome, Mild	22
1107	P	RDC012	Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset	22
1108	c	CFF015	Coffin-Siris Syndrome 10	22
1109		OBS507	Obsolete: Small Pox	22
1110	c	ATS378	Autism 17	22
1111		DYS038	Dysgnathia Complex	22
1112		ACR107	Acrofacial Dysostosis, Palagonia Type	22
1113	c	SCH086	Schizophrenia 11	22
1114		FND006	Fundus Dystrophy, Pseudoinflammatory, Recessive Form	22
1115		MXD035	Mixed-Type Autoimmune Hemolytic Anemia	22
1116		SPN133	Spondyloepimetaphyseal Dysplasia with Multiple Dislocations	22
1117		PLL009	Pellucid Marginal Degeneration	22
1118	c	CLR088	Ciliary Dyskinesia, Primary, 21	22
1119		OBS529	Obsolete: Combined Hyperlipidemia	22
1120		CCN009	Cocaine Intoxication	22
1121		LKN005	Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema	22
1122		RFS003	Refsum Disease, Infantile Form	22
1123	c	CTR184	Cataract 39, Multiple Types	22
1124		PRG110	Progressive Encephalomyelitis with Rigidity and Myoclonus	22
1125	c	FBR079	Fibromatosis, Gingival, 2	22
1126		NWD001	New Daily-Persistent Headache	22
1127		HTR005	Heterochromia Iridis	22
1128	c	ATM066	Autoimmune Polyendocrinopathy Type 4	22
1129	c	CCK004	Cockayne Syndrome Type Iii	22
1130		HML018	Homologous Wasting Disease	22
1131	c	SNR011	Senior-Loken Syndrome 3	22
1132		6QT002	6q Terminal Deletion Syndrome	21
1133	c	LTH026	Lethal Congenital Contracture Syndrome 4	21
1134	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	21
1135		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	21
1136	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	21
1137	c	HYP832	Hypotrichosis 14	21
1138	c	SYS040	Systemic Lupus Erythematosus 10	21
1139		GRW021	Growing Teratoma Syndrome	21
1140	c	MLG150	Malignant Hyperthermia 4	21
1141		MYC016	Mycobacterium Gordonae	21
1142		MCL047	Macular Amyloidosis	21
1143		LMB009	Lambdoid Synostosis	21
1144		MSL005	Mseleni Joint Disease	21
1145	c	SCN048	Secondary Syringomyelia	21
1146	c	PSR027	Psoriasis 6	21
1147	c	SYS046	Systemic Lupus Erythematosus 3	21
1148		SLN006	Silent Sinus Syndrome	21
1149		SPS006	Spastic Monoplegia	21
1150		ETH012	Ethylene Glycol Poisoning	21
1151		URT052	Urticaria, Aquagenic	21
1152	c	SBC010	Subacute Glomerulonephritis	21
1153		SPS087	Spasmus Nutans	21
1154		STR033	Storm Syndrome	21
1155		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	21
1156		NWN001	New-Onset Refractory Status Epilepticus	21
1157	c	RTN196	Retinitis Pigmentosa 78	21
1158	c	ADL084	Adult-Onset Myasthenia Gravis	21
1159	c	OVR119	Ovarian Dysgenesis 7	21
1160		OBS097	Obsolete: Heinz Body Anemia	21
1161		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	21
1162		CGH002	Cough Headache	21
1163		STP007	Staphylococcal Scarlet Fever	21
1164		MYP060	Myopic Macular Degeneration	21
1165		ATR052	Atrophic Lichen Planus	21
1166	c	CLL018	Collagen Type Vi-Related Disorders	21
1167	P	QLT041	Qualitative or Quantitative Defects of Alpha-Dystroglycan	21
1168	c	PRM295	Premature Ovarian Failure 15	21
1169	c	CRB168	Cerebroretinal Microangiopathy with Calcifications and Cysts 2	21
1170	c	FRM002	Form Agnosia	21
1171	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	21
1172		BNT001	Banti's Syndrome	21
1173		MLT173	Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability	21
1174	c	CLR054	Ciliary Dyskinesia, Primary, 12	21
1175		DYS189	Dyskinesia, Seizures, and Intellectual Developmental Disorder	21
1176		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	21
1177	c	ATS209	Autosomal Dominant Secondary Polycythemia	21
1178	c	CLR124	Ciliary Dyskinesia, Primary, 34	21
1179		GLC025	Galactorrhoea-Hyperprolactinaemia	21
1180		PRN068	Paraneoplastic Limbic Encephalitis	21
1181		LPS019	Lupus Erythematosus Tumidus	21
1182	c	PNM004	Pneumoconiosis Due to Talc	21
1183	c	DMN028	Diamond-Blackfan Anemia 12	21
1184		CGT001	Ciguatera Fish Poisoning	21
1185		BLL015	Bullous Lichen Planus	21
1186		MRF007	Marfanoid Hypermobility Syndrome	21
1187		PLY039	Polymorphic Reticulosis	21
1188		CHR241	Chromosome 2q24 Microdeletion Syndrome	21
1189		EPS038	Episodic Angioedema with Eosinophilia	21
1190		MTR027	Mitral Atresia	21
1191		ORB019	Orbital Margin, Hypoplasia of	21
1192	c	PRM253	Premature Ovarian Failure 13	21
1193	c	AML059	Amelogenesis Imperfecta, Type Ij	21
1194	c	MTH083	Methemoglobinemia, Beta Type	21
1195		NDD001	Nodding Syndrome	21
1196	c	TYP034	Type 1 Diabetes Mellitus 8	21
1197		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	21
1198		UNL013	Unilateral Absence of a Pulmonary Artery	21
1199		MYP154	Myopathy, Congenital, with Fast-Twitch Fiber Atrophy	21
1200	c	ANT087	Anterior Segment Dysgenesis 6	21
1201		SCD003	Scedosporiosis	21
1202	c	MLG080	Malignant Secondary Hypertension	21
1203		AP4001	Ap-4-Associated Hereditary Spastic Paraplegia	21
1204		ACH039	Achalasia-Microcephaly Syndrome	20
1205		SYN120	Syndromic Oculocutaneous Albinism	20
1206	P	STR111	Stromal Corneal Dystrophy	20
1207		CYT017	Cytophagic Histiocytic Panniculitis	20
1208		QLT002	Qualitative or Quantitative Defects of Dystrophin	20
1209		TRH001	Trehalase Deficiency	20
1210	c	TYP033	Type 1 Diabetes Mellitus 7	20
1211	c	CHR465	Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity	20
1212		CRY024	Crystal Arthropathies	20
1213	c	HYP578	Hypotrichosis 12	20
1214		MRZ001	Mirizzi Syndrome	20
1215		HRR005	Harrod Syndrome	20
1216		CMP017	Camptocormism	20
1217	c	NRC017	Narcolepsy 7	20
1218		FBR091	Fibroblastic Rheumatism	20
1219	c	PSR031	Psoriasis 10	20
1220		RCK009	Rickettsial Disease	20
1221		PSD084	Pseudo-Meigs Syndrome	20
1222		ADN085	Adenylate Kinase Deficiency, Hemolytic Anemia Due to	20
1223		XQ2003	Xq25 Duplication Syndrome	20
1224		PRM157	Primary Progressive Freezing Gait	20
1225		OCL071	Oculocerebral Hypopigmentation Syndrome of Preus	20
1226		CMB051	Combined Oxidative Phosphorylation Deficiency 21	20
1227		ISL082	Isolated Atp Synthase Deficiency	20
1228		DPL007	Duplication of Urethra	20
1229		ISL084	Isolated Trigonocephaly	20
1230		HST018	Histiocytosis, Progressive Mucinous	20
1231	c	MYP040	Myopia 7	20
1232	c	ORF014	Orofacial Cleft 5	20
1233		ART056	Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay	20
1234		DST011	Distal Chromosome 18q Deletion Syndrome	20
1235		ACT191	Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion	20
1236		ITR001	Iatrogenic Botulism	20
1237	c	CTR159	Cataract 35	20
1238		MTT004	Metatarsus Adductus	20
1239	c	PLY176	Polycystic Kidney Disease 4	20
1240		QDR002	Quadricuspid Aortic Valve	20
1241	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	20
1242	c	BRC105	Brachydactyly, Type A1, D	20
1243		CLF021	Cleft Palate X-Linked	20
1244		OBS873	Obsolete: Ito Hypomelanosis	20
1245	c	ANM034	Anemia, Sideroblastic, 4	20
1246		FCC003	Faciocardiomelic Dysplasia, Lethal	20
1247		DSS012	Disseminated Infection with Mycobacterium Avium Complex	20
1248	P	CHR200	Chromosome 16 Trisomy	20
1249	c	TYP040	Type 1 Diabetes Mellitus 18	20
1250		FMR013	Femoral Agenesis/hypoplasia	20
1251		MDS024	Mediastinal Endodermal Sinus Tumors	20
1252		HYP685	Hypergonadotropic Hypogonadism and Partial Alopecia	20
1253		HPS001	Hip Subluxation	20
1254	c	LTY001	Late Yaws	20
1255		ALP088	Alpha-Fetoprotein, Hereditary Persistence of	20
1256	c	NYS003	Nystagmus 2, Congenital, Autosomal Dominant	20
1257		XLN240	X-Linked Otopalatodigital Spectrum Disorders	20
1258		BNG086	Bangstad Syndrome	20
1259		HYD050	Hydrocephalus, Endocardial Fibroelastosis, and Cataracts	20
1260		HRP026	Herpetiform Pemphigus	20
1261		MLG087	Malignant Cylindroma	20
1262		NND001	Nondystrophic Myotonia	20
1263		TLN013	Telangiectasia Macularis Eruptive Perstans	20
1264	c	HYD071	Hydrocephalus, Normal-Pressure, 1	20
1265		PYT001	Pythiosis	20
1266		ULN014	Ulnar Hemimelia	20
1267	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	20
1268		EXT063	Extrapelvic Endometriosis	20
1269		THN005	Thunderclap Headache	19
1270	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	19
1271		TBT001	Tabatznik Syndrome	19
1272		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	19
1273		MCR330	Microphthalmia, Isolated, with Cataract 1	19
1274		SYN112	Syndromic Microphthalmia-Anophthalmia-Coloboma	19
1275		MSC017	Mosaic Trisomy 22	19
1276	c	PNT053	Pontocerebellar Hypoplasia, Type 13	19
1277		BRC046	Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia	19
1278	c	AGM017	Agammaglobulinemia 8, Autosomal Dominant	19
1279		PSD079	Pseudoangiomatous Stromal Hyperplasia	19
1280		16P002	16p11.2 Deletion Syndrome	19
1281	c	CHR227	Chromosome 20 Trisomy	19
1282		VGN031	Vaginal Atresia	19
1283		CHR612	Chromosome 15q14 Deletion Syndrome	19
1284	c	CNT094	Cantú Syndrome and Related Disorders	19
1285		SPN117	Spinocerebellar Degeneration and Corneal Dystrophy	19
1286		DST036	Distal Trisomy 15q	19
1287		FRN028	Furunculous Myiasis	19
1288		BSL043	Basal Ganglia Calcification, Idiopathic, Childhood-Onset	19
1289		PRP107	Peripheral Hypothyroidism	19
1290	c	INF047	Infantile Free Sialic Acid Storage Disease	19
1291	c	SPR070	Sporadic Infantile Bilateral Striatal Necrosis	19
1292		PTY005	Pityriasis Lichenoides Chronica	19
1293	P	CNG515	Congenital Zika Syndrome	19
1294		DHY008	Dihydroxyadeninuria	19
1295	c	WLL035	Woolly Hair, Autosomal Recessive 3	19
1296		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	19
1297	c	46X046	46,xy Sex Reversal 4	19
1298		GLC039	Glucosephosphate Isomerase Deficiency	19
1299		XLN215	X-Linked Congenital Generalized Hypertrichosis	19
1300	c	MCR368	Microcephaly 24, Primary, Autosomal Recessive	19
1301		CHR182	Chromosome 10p Duplication	19
1302		BDR001	Bidirectional Tachycardia	19
1303		CHR584	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb	19
1304		LNR010	Linear Lichen Planus	19
1305	c	KLP006	Klippel-Feil Syndrome 3, Autosomal Dominant	19
1306		19P001	19p13.12 Microdeletion Syndrome	19
1307		CHR567	Chromosome 5q12 Deletion Syndrome	19
1308		KRT077	Keratinopathic Ichthyosis	19
1309	c	RTN214	Retinitis Pigmentosa 81	19
1310	c	DYS058	Dystonia 15, Myoclonic	19
1311		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	19
1312	c	DYS184	Dystonia 17, Torsion, Autosomal Recessive	19
1313		PRR029	Pierre Robin Syndrome and Oligodactyly	19
1314		PHC015	Phacoanaphylactic Uveitis	19
1315		BRH001	Boerhaave Syndrome	19
1316		1Q4001	1q44 Microdeletion Syndrome	19
1317	c	TYP039	Type 1 Diabetes Mellitus 17	19
1318	c	MYP141	Myopia 5, Autosomal Dominant	19
1319		TRN067	Transcobalamin I Deficiency	19
1320		EGL001	Eagle Syndrome	19
1321		ISN001	Isoniazid Toxicity	19
1322		LGR001	Laugier-Hunziker Syndrome	19
1323	c	PRM209	Primary Trimethylaminuria	19
1324		AML012	Ameloonychohypohidrotic Syndrome	19
1325		HRM018	Hermansky-Pudlak Syndrome with Pulmonary Fibrosis	19
1326		OCL057	Oculotrichodysplasia	19
1327	P	MTC195	Mitochondrial Oxidative Phosphorylation Disorder	19
1328	c	DMN047	Diamond-Blackfan Anemia 18	19
1329		EPG004	Epignathus	19
1330		DST045	Distal Trisomy 6p	19
1331		SMC003	Semicircular Canal Dehiscence Syndrome	19
1332		CHL084	Cholesterol Pneumonia	19
1333	P	CNG070	Congenital Dislocation of the Patella	19
1334		CTN032	Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia	19
1335		AMY010	Amyloidosis Beta2m	19
1336		LWF001	Low-Flow Priapism	19
1337	c	PSR022	Psoriasis 15, Pustular	19
1338		LVT001	Levator Syndrome	19
1339		HMF007	Hemifacial Hyperplasia with Strabismus	18
1340	c	DMN040	Diamond-Blackfan Anemia 16	18
1341		EXT061	Extracardiac Rhabdomyoma	18
1342		IQS001	Iqsec2	18
1343		SPR064	Supernumerary Breasts	18
1344		OMP008	Omphalocele-Cleft Palate Syndrome, Lethal	18
1345		PRM331	Primary Hypophysitis	18
1346		CYT006	Cytoplasmic Body Myopathy	18
1347	c	INF081	Inflammatory Bowel Disease 22	18
1348		LMB056	Lumbosacral Spina Bifida Cystica	18
1349		HSH001	Hashimoto-Pritzker Syndrome	18
1350		SCL051	Scalp Defects and Postaxial Polydactyly	18
1351	c	MCR108	Microphthalmia, Isolated 7	18
1352		OBS385	Obsolete: Postaxial Polydactyly of Fingers	18
1353		OTN001	Otoonychoperoneal Syndrome	18
1354		CMP069	Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome	18
1355		17Q009	17q12 Recurrent Deletion Syndrome	18
1356		PPL053	Papillomatosis, Florid, of Nipple	18
1357		RDR002	Rodrigues Blindness	18
1358		RTC011	Reticular Dystrophy of Retinal Pigment Epithelium	18
1359		THM005	Thumb Deformity	18
1360		CTN031	Cutaneous Pseudolymphoma	18
1361		MSM018	Mesomelic Limb Shortening and Bowing	18
1362		MSC081	Mosaic Trisomy 15	18
1363		TRT005	Teratoma with Malignant Transformation	18
1364		PRS119	Persistent Genital Arousal Disorder	18
1365		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	18
1366	c	AMY056	Amyloidosis, Primary Localized Cutaneous, 2	18
1367	c	PRG138	Paragangliomas 7	18
1368		LCT008	Lactate Dehydrogenase Deficiency	18
1369		DYT005	Dyt-Thap1	18
1370		MLT131	Multifocal Atrial Tachycardia	18
1371		INH017	Inherited Congenital Spastic Tetraplegia	18
1372		IDP067	Idiopathic Hemiconvulsion-Hemiplegia Syndrome	18
1373	c	PTS018	Ptosis, Hereditary Congenital 1	18
1374		CTM001	Catamenial Pneumothorax	18
1375	c	SCL049	Scoliosis, Isolated 3	18
1376		MTH011	Methionine Adenosyltransferase Deficiency	18
1377	c	MYP044	Myopia 10	18
1378		BMF002	Bamforth Syndrome	18
1379		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	18
1380		CNT088	Central Cloudy Dystrophy of Francois	18
1381		BRC094	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	18
1382		PPL038	Papular Xanthoma	18
1383		ICH011	Ichthyosis Follicularis Atrichia Photophobia Syndrome	18
1384	c	ERL044	Early-Onset Posterior Polar Cataract	18
1385		VLN001	Valinemia	18
1386	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	18
1387	c	ORF050	Orofacial Cleft 2	18
1388		MYS028	Myospherulosis	18
1389		IDP047	Idiopathic Panuveitis	18
1390		MTH068	Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect	18
1391		CRN224	Craniofaciofrontodigital Syndrome	18
1392	c	NNN032	Non-Infectious Posterior Uveitis	18
1393	c	HYP573	Hypotrichosis 5	18
1394		CNG108	Congenital Mitral Stenosis	18
1395		SWY003	Swyer-James Syndrome	18
1396		CLF047	Cleft-Limb-Heart Malformation Syndrome	18
1397	c	INF084	Inflammatory Bowel Disease 26	18
1398		GLS013	Glossodynia	18
1399		QLT009	Qualitative or Quantitative Defects of Caveolin-3	18
1400	c	CHR180	Chromosome 10, Uniparental Disomy	18
1401		ICH025	Ichthyosis, Follicular	18
1402		THR084	Thoracolumbosacral Spina Bifida Cystica	18
1403		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	18
1404	c	CTR178	Cataract 27	18
1405		PHN012	Phenytoin or Carbamazepine Toxicity	18
1406		GLM036	Gliomatosis Peritonei	18
1407	c	ORF049	Orofacial Cleft 3	17
1408	P	HRD043	Hereditary Congenital Facial Paresis	17
1409		MYX011	Myxozoa	17
1410	P	CLD004	Cold-Induced Sweating Syndrome Including Crisponi Syndrome	17
1411		SPR065	Supernumerary Nostril	17
1412		CTN020	Cutaneous Sclerosis	17
1413		GND015	Gonadal Germ Cell Tumor	17
1414		CCC003	Coccygodynia	17
1415	c	GLC100	Glaucoma 1, Open Angle, D	17
1416		ANL019	Anal Sphincter Dysplasia	17
1417		CXR001	Coxoauricular Syndrome	17
1418		TRP010	Treponema Infection	17
1419		BRC096	Brachydactyly-Distal Symphalangism Syndrome	17
1420	c	PSR030	Psoriasis 8	17
1421		RMT001	Remitting Seronegative Symmetrical Synovitis with Pitting Edema	17
1422	P	ATS469	Autosomal Monosomy	17
1423		VNT036	Ventilator-Induced Diaphragmatic Dysfunction	17
1424		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	17
1425		STN005	St Anthony's Fire	17
1426		CTN034	Cutaneous Myiasis	17
1427	c	MYP144	Myopia 12, Autosomal Dominant	17
1428		WHT005	White Forelock with Malformations	17
1429		BNG078	Benign Paroxysmal Torticollis of Infancy	17
1430	c	ALP040	Alopecia Areata 2	17
1431		INH013	Inhalational Botulism	17
1432		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	17
1433		GND012	Gonadal Dysgenesis, Xy Type, with Associated Anomalies	17
1434	c	ACQ039	Acquired Purpura Fulminans	17
1435		ZBR001	Zebra Body Myopathy	17
1436		MD1003	Med13l Haploinsufficiency Syndrome	17
1437	c	DBT057	Diabetes Mellitus, Insulin-Dependent, 6	17
1438		CHR257	Chromosome 6q Deletion	17
1439		HYP696	Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome	17
1440		3Q2006	3q27.3 Microdeletion Syndrome	17
1441		HYD049	Hydrocephalus with Cerebellar Agenesis	17
1442		BRZ001	Brazilian Hemorrhagic Fever	17
1443		BRC116	Brachial Amelia, Cleft Lip, and Holoprosencephaly	17
1444		CHR184	Chromosome 10q Duplication	17
1445		CRB203	Caribbean Parkinsonism	17
1446		PRX013	Proximal Chromosome 18q Deletion Syndrome	17
1447		OBS172	Obsolete: Solitary Median Maxillary Central Incisor Syndrome	17
1448	c	MCH013	Machado-Joseph Disease Type 3	17
1449		HMR013	Hemorrhagic Proctocolitis	17
1450	c	GLC104	Glaucoma 1, Open Angle, O	17
1451	c	INF055	Infectious Myocarditis	17
1452		PNH003	Pinheiro Freire-Maia Miranda Syndrome	17
1453		TYP044	Type 1 Interferonopathy	17
1454		DPH023	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull	17
1455		CLS032	Clostridium Perfringens Infection	17
1456		APD001	Apo a-I Deficiency	17
1457	c	ATS172	Autism 10	17
1458		ORN004	Ornithinemia	17
1459	c	SPS163	Spastic Ataxia 3	17
1460	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	17
1461	c	MCH012	Machado-Joseph Disease Type 1	17
1462		PNT023	Pontine Hemorrhage	17
1463		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	17
1464		LMB071	Lambotte Syndrome	17
1465		ANT040	Anton's Syndrome	17
1466	P	NDL017	Nodular Cutaneous Amyloidosis	17
1467		ANT063	Anti-P200 Pemphigoid	17
1468	c	CHR665	Choroidal Dystrophy, Central Areolar, 3	17
1469		RDT004	Radiation Induced Brachial Plexopathy	17
1470		DST069	Distal Monosomy 12q	17
1471	c	DBT059	Diabetes Mellitus, Insulin-Dependent, 8	17
1472		THY105	Thyrocerebroretinal Syndrome	17
1473		CRN287	Carnitine Deficiency, Myopathic	17
1474		RSM002	Rasmussen Johnsen Thomsen Syndrome	17
1475		PRP069	Purpura Simplex	17
1476		LJN002	Lujan Syndrome	17
1477	c	MTR063	Maternal Uniparental Disomy of Chromosome 2	17
1478		DSM005	Desmoplastic Infantile Astrocytoma	17
1479		CND008	Condensing Osteitis of the Clavicle	17
1480		MSM003	Mesomelia	17
1481	c	PST077	Posterior Meningocele	16
1482		14Q001	14q12 Microdeletion Syndrome	16
1483		HYD051	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis	16
1484		OBS199	Obsolete: Sakati-Nyhan Syndrome	16
1485		EXT050	Extraneural Perineurioma	16
1486		KMM002	Kommerell Diverticulum	16
1487	c	LKD032	Leukodystrophy, Hypomyelinating, 19, Transient Infantile	16
1488		CRN308	Coronary Arterial Fistula	16
1489	c	OTS006	Otosclerosis 2	16
1490		ALN006	Alien Hand Syndrome	16
1491		EMR002	Emerinopathy	16
1492		BSC003	Buschke Lowenstein Tumor	16
1493		PLM065	Pulmonary Supravalvular Stenosis	16
1494		SYN149	Syndromic Rod-Cone Dystrophy	16
1495		PCT002	Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails	16
1496	c	UNC018	Uncombable Hair Syndrome 3	16
1497	c	UNP011	Uniparental Disomy of Chromosome 14	16
1498		EPL161	Epilepsy, Reading	16
1499	c	MCL026	Macular Dystrophy, Retinal, 3	16
1500	c	HYP551	Hypotrichosis 9	16
1501		CHR250	Chromosome 4q Duplication	16
1502		3P2001	3p25.3 Microdeletion Syndrome	16
1503		TYS007	Tyshchenko Syndrome	16
1504		PRP068	Propriospinal Myoclonus	16
1505		THM025	Thumbs, Congenital Clasped	16
1506		RDC003	Red Cell Phospholipid Defect with Hemolysis	16
1507	c	MYC086	Myoclonic Epilepsy, Juvenile 4	16
1508		SLT007	Solitary Rectal Ulcer Syndrome	16
1509		SYR004	Syringobulbia	16
1510		CLD006	Cleidorhizomelic Syndrome	16
1511	c	ZMM004	Zimmermann-Laband Syndrome 3	16
1512		TRS010	Trisomy 17 Mosaicism	16
1513	c	MYG006	Myoglobinuria, Autosomal Dominant	16
1514		GMB001	Gombo Syndrome	16
1515		49X005	49, Xxxyy Syndrome	16
1516		CLF034	Cleft Hard Palate	16
1517		GLC088	Glaucoma and Sleep Apnea	16
1518		FWL003	Fowler Urethral Sphincter Dysfunction Syndrome	16
1519		HYD055	Hydroxylysinuria	16
1520		LNG102	Long-Thumb Brachydactyly Syndrome	16
1521		CRV046	Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction	16
1522		ART091	Aorto-Ventricular Tunnel	16
1523		PRS110	Persistent Placoid Maculopathy	16
1524		HMN034	Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe	16
1525	c	PTS010	Ptosis, Hereditary Congenital 2	16
1526	c	HYP544	Hypotrichosis 10	16
1527		HYP689	Hypomelia with Mullerian Duct Anomalies	16
1528		ECT023	Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	16
1529		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	16
1530	c	ATS373	Autism 11	16
1531	c	TYS005	Tay-Sachs Disease, B1 Variant	16
1532		CMP077	Composite Hemangioendothelioma	16
1533		MLN056	Male Infertility with Teratozoospermia Due to Single Gene Mutation	16
1534		ANP032	Anaplastic Pleomorphic Xanthoastrocytoma	16
1535		AMR007	Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis	16
1536	c	AML056	Amelogenesis Imperfecta, Type Iiib	16
1537		ECT086	Ectrodactyly-Polydactyly	16
1538		CNG238	Congenital Panfollicular Nevus	16
1539		CLM004	Climatic Droplet Keratopathy	16
1540		ACT174	Acute Peripheral Arterial Occlusion	16
1541		LTH004	Lathyrism	16
1542	c	DBT050	Diabetes Mellitus, Insulin-Dependent, 15	16
1543		KSH003	Kshv Inflammatory Cytokine Syndrome	16
1544		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	16
1545		SPS196	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	16
1546		GLM046	Glomus Vagale Tumor	16
1547	c	MYP147	Myopia 19, Autosomal Dominant	16
1548		DDL001	Didelphys Uterus	16
1549	c	CTR176	Cataract, Age-Related Nuclear	16
1550		CRT056	Carotidynia	16
1551		HYP727	Hypoglossia with Situs Inversus	16
1552		TRC120	Tricarboxylic Acid Cycle, Defect of	16
1553	c	PRR032	Pura-Related Neurodevelopmental Disorders	16
1554		GRN020	Granulomatous Hypophysitis	16
1555		ATY025	Atypical Glycine Encephalopathy	16
1556		SPN120	Spondylocamptodactyly	16
1557		DYS053	Dystelephalangy	16
1558		DST035	Distal Trisomy 18q	16
1559	c	ISC010	Isochromosome Yp	16
1560	c	DBT049	Diabetes Mellitus, Insulin-Dependent, 13	16
1561		RCS010	Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	16
1562		CHR220	Chromosome 1p Deletion	15
1563		WYR003	Weyers Ulnar Ray/oligodactyly Syndrome	15
1564		CHR264	Chromosome 8p Deletion	15
1565		PNS014	Penis Agenesis	15
1566	c	OTS012	Otosclerosis 10	15
1567		ADN061	Adenosarcoma of the Cervix Uteri	15
1568		MSC086	Mesocardia	15
1569		GRN021	Granulomatous Rosacea	15
1570		LKT001	Leukotriene C4 Synthase Deficiency	15
1571		CHR238	Chromosome 2p Duplication	15
1572		CHS007	Chester Porphyria	15
1573		CHR244	Chromosome 3p Duplication	15
1574		OBS524	Obsolete: Benign Exophthalmos Syndrome	15
1575		TRP027	Triphalangeal Thumb, Nonopposable	15
1576		ERL040	Early-Onset Sutural Cataract	15
1577		ODN008	Odontomicronychial Dysplasia	15
1578		OVR073	Ovarian Remnant Syndrome	15
1579		ALB022	Albinism-Microcephaly-Digital Anomalies Syndrome	15
1580		SPR145	Superficial Fibromatosis	15
1581		CHR272	Chromosome 9q Duplication	15
1582		SPS093	Spastic Diplegia Cerebral Palsy	15
1583		MCR340	Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate	15
1584		CYL003	Cylindrical Spirals Myopathy	15
1585		SNK001	Snakebite Envenomation	15
1586		XLN223	X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	15
1587		CTT001	Catatrichy	15
1588	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	15
1589		CHR263	Chromosome 7q Duplication	15
1590		ATS285	Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	15
1591		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	15
1592		TRM021	Tremor, Nystagmus, and Duodenal Ulcer	15
1593		16P008	16p11.2 Duplication	15
1594		BSL013	Basaloid Follicular Hamartoma	15
1595		PRX084	Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia	15
1596		ERL037	Early-Onset Lamellar Cataract	15
1597	c	ALP036	Alopecia, Androgenetic, 2	15
1598		CRY029	Cryptomicrotia-Brachydactyly Syndrome	15
1599		CHR256	Chromosome 6p Duplication	15
1600		PRP033	Properdin Deficiency	15
1601	c	MRR012	Mirror Movements 3	15
1602		NCT004	N Acetyltransferase Deficiency	15
1603		CHR188	Chromosome 11q Duplication	15
1604		INC023	Incisors, Fused Mandibular	15
1605	c	RFR015	Refractory Anemia with Excess Blasts Type 1	15
1606	c	KRT039	Keratoconus 2	15
1607		SHN001	Shone Complex	15
1608		PPL027	Papular Urticaria	15
1609		DST038	Distal Monosomy 7q36	15
1610		ADC008	Adactylia, Unilateral	15
1611		CHR199	Chromosome 15q Duplication	15
1612	c	FBR077	Fibromatosis, Gingival, 3	15
1613	c	FBR080	Fibromatosis, Gingival, 4	15
1614		OBS249	Obsolete: Papillary Fibroelastoma of the Heart	15
1615		APL029	Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy	15
1616		DSP003	Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	15
1617		49X004	49,xyyyy Syndrome	15
1618		CHR261	Chromosome 7p Duplication	15
1619		OBS890	Obsolete: Adult Pulmonary Langerhans Cell Histiocytosis	15
1620		NSP010	Nasopharyngeal Teratoma	15
1621		ACH040	Achoo Syndrome	15
1622		CHR181	Chromosome 10p Deletion	15
1623	c	OBS417	Obsolete: Brachydactyly of Toes	15
1624		ENC045	Encephalopathy, Recurrent, of Childhood	15
1625		MCR070	Microcornea, Glaucoma, and Absent Frontal Sinuses	15
1626		SBP005	Subpulmonary Stenosis	15
1627		CHR170	Choroid Plexus Cyst	15
1628		CNG120	Congenital Pseudoarthrosis	15
1629		TRP023	Triphalangeal Thumbs and Dislocation of Patella	15
1630		SBM006	Submucosal Cleft Palate	15
1631	c	ESP034	Esophagitis, Eosinophilic, 2	15
1632		EXR004	Exertional Headache	15
1633	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	15
1634	c	RRM002	Rrm2b-Related Mitochondrial Disease	15
1635		ARC024	Aurocephalosyndactyly	15
1636		CSK001	Cask-Related Disorders	15
1637		PRR030	Pierre Robin Sequence with Facial and Digital Anomalies	15
1638	c	UNP008	Uniparental Disomy of Chromosome 15	15
1639		CNS012	Cono-Spondylar Dysplasia	15
1640		ACT215	Actg2-Related Disorders	15
1641		HML010	Hemolytic Anemia Due to Glutathione Reductase Deficiency	15
1642		PLM062	Pulmonary Hyalinizing Granuloma	15
1643	P	ISL029	Isolated Anorectal Malformation	15
1644		MYL019	Myeloid Splenomegaly	15
1645		HYP468	Hyperkeratosis-Hyperpigmentation Syndrome	15
1646		DBL009	Double Inferior Vena Cava	15
1647		ART027	Aorta-Pulmonary Artery Fistula	15
1648		HYP667	Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	15
1649		PRS132	Parasomnia, Sleep Bruxism Type	15
1650		OBS413	Obsolete: Brachydactyly of Fingers	15
1651		RCT024	Reactive Angioendotheliomatosis	15
1652	c	KRT040	Keratoconus 3	15
1653		CRD014	Cardiac Diverticulum	15
1654		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	15
1655	c	ADL074	Adult-Onset Distal Myopathy Due to Vcp Mutation	15
1656		WHB001	Wahab Syndrome	15
1657		FBR022	Febrile Ulceronecrotic Mucha-Habermann Disease	15
1658		ONY005	Onychomatricoma	15
1659		TRM018	Traumatic Avascular Necrosis	15
1660		CMP079	Complete Septate Uterus	15
1661		LGH014	Light and Heavy Chain Deposition Disease	15
1662		LFT022	Left Sided Atrial Isomerism	15
1663		ITC001	Itch E3 Ubiquitin Ligase Deficiency	15
1664		MRG007	Morgellons	15
1665		CHR249	Chromosome 4q Deletion	15
1666		CHR214	Chromosome 18q Duplication	15
1667		GST058	Gestational Diabetes Insipidus	14
1668	c	NDP001	Ndp-Related Retinopathies	14
1669		PHK006	Phakomatosis Pigmentokeratotica	14
1670		TBR012	Tuberculous Uveitis	14
1671	c	MYP145	Myopia 16, Autosomal Dominant	14
1672	c	BRC037	Brachydactyly Type A7	14
1673		OBS412	Obsolete: Preaxial Polydactyly of Toes	14
1674		TRC061	Trichostasis Spinulosa	14
1675		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	14
1676		PST037	Pasteurella Multocida Infection	14
1677		RCT033	Rectal Duplication	14
1678		TRG013	Trigeminal Autonomic Cephalalgia	14
1679		PRG036	Progressive Transformation of Germinal Centers	14
1680		CLF036	Cleft Tongue	14
1681		CHR198	Chromosome 15q Deletion	14
1682		ANR045	Aneurysm of Interventricular Septum	14
1683		6P2001	6p22 Microdeletion Syndrome	14
1684		ACR022	Acardia	14
1685	c	GLC048	Glaucoma 1, Open Angle, I	14
1686	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	14
1687		ISL072	Isolated Levocardia	14
1688		APV001	Aapoaiv Amyloidosis	14
1689		KNS003	Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis	14
1690		MXL011	Maxillofacial Dysostosis	14
1691		GSB001	Gas Bloat Syndrome	14
1692		PLY127	Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	14
1693		LCL017	Localized Pagetoid Reticulosis	14
1694		CMB094	Combined Dystonia	14
1695		THR122	Thoracic Malformation	14
1696		TLN004	Talonavicular Coalition	14
1697		CNG609	Congenital Left Ventricular Aneurysm	14
1698		HRP038	Herpes Simplex Virus Stromal Keratitis	14
1699	c	SCN046	Secondary Short Bowel Syndrome	14
1700		CHR196	Chromosome 14q Duplication	14
1701		CHR194	Chromosome 13q Duplication	14
1702		OBS536	Obsolete: Short Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	14
1703		IRS009	Iris Hypoplasia with Glaucoma	14
1704		CHR240	Chromosome 2q Duplication	14
1705		PHC005	Phacomatosis Pigmentokeratotica	14
1706		DGT004	Digitalis Poisoning	14
1707		INT102	Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity	14
1708	c	PLY053	Polydactyly, Postaxial, Type A3	14
1709		MDM005	Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	14
1710		DRT002	Duarte Variant Galactosemia	14
1711		CHR183	Chromosome 10q Deletion	14
1712		DST055	Distal 22q11.2 Microduplication Syndrome	14
1713	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	14
1714	P	NNN030	Non-Infectious Anterior Uveitis	14
1715		CHL009	Childhood Cerebral Astrocytoma	14
1716		WLF008	Wolffian Tumor	14
1717		TRC064	Trochlear Dysplasia	14
1718		MYS071	Myasthenia, Limb-Girdle, Autoimmune	14
1719	c	ANR028	Aneurysm, Intracranial Berry, 3	14
1720	c	NYS016	Nystagmus 7, Congenital, Autosomal Dominant	14
1721	c	PST110	Posterior Corneal Dystrophy	14
1722		SPN357	Spondyloepimetaphyseal Dysplasia, Micromelic	14
1723		CHR197	Chromosome 15, Trisomy Mosaicism	14
1724		ORB018	Orbital Leiomyoma	14
1725		6PH001	6-Phosphogluconate Dehydrogenase Deficiency	14
1726		MNN041	Mannose-Binding Lectin Protein Deficiency	14
1727		CLS034	Clostridium Septicum Infection	14
1728		CHR192	Chromosome 12q Duplication	14
1729		CRT080	Cortical Blindness, Retardation, and Postaxial Polydactyly	14
1730		OBS891	Obsolete: Hand-Schuller-Christian Disease	14
1731		SCN063	Scn2a Related Disorders	14
1732		CHR207	Chromosome 16q Duplication	14
1733		SPR068	Sporadic Pheochromocytoma/secreting Paraganglioma	14
1734	c	PRG145	Progressive Myoclonus Epilepsy 6	14
1735		PRS111	Persistent Fifth Aortic Arch	14
1736	c	ELN001	Elane-Related Neutropenia	14
1737		MSP003	Misophonia	14
1738	c	KCN020	Kcnt1-Related Epilepsy	14
1739		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1740		GLT037	Gluteal Muscles, Absence of	14
1741		ACT170	Acute Ackee Fruit Intoxication	14
1742	c	NRC013	Narcolepsy 5	14
1743		EXG001	Exogenous Ochronosis	14
1744		ETH013	Euthyroid Graves Orbitopathy	14
1745		ISD002	Isodicentric Chromosome 15 Syndrome	14
1746	P	ICH074	Ichthyosis, Lamellar, Autosomal Dominant	14
1747	c	PSD024	Pseudo Pelger-Huet Anomaly	14
1748		VCT002	Vacterl Association with Hydrocephaly, X-Linked	14
1749		9Q2003	9q21.13 Microdeletion Syndrome	14
1750		HYP490	Hyperinsulinism Due to Hnf1a Deficiency	14
1751		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	14
1752		TRP011	Triopia	14
1753		SHR117	Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms	14
1754	c	PRK097	Porokeratosis 5, Disseminated Superficial Actinic Type	14
1755		PRT165	Partial Deletion of the Short Arm of Chromosome 7	14
1756		20Q001	20q13.33 Microdeletion Syndrome	14
1757		PRX095	Proximal Myopathy with Focal Depletion of Mitochondria	14
1758		CHR189	Chromosome 12p Deletion	14
1759		PRV008	Parvovirus Antenatal Infection	14
1760		CHR239	Chromosome 2q Deletion	13
1761		CHR271	Chromosome 9q Deletion	13
1762		SKD001	Sakoda Complex	13
1763	c	INF151	Infectious Panuveitis	13
1764		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	13
1765		DBS003	Dibasic Amino Aciduria I	13
1766		MTC196	Mitochondrial Disease with Epilepsy	13
1767	c	ATM056	Autoimmune Thyroid Disease 1	13
1768		HYP642	Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency	13
1769	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	13
1770		PRR018	Preauricular Sinus	13
1771		ORB016	Orbital Varix	13
1772		ATS112	Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity	13
1773		FMR007	Femur Bifid with Monodactylous Ectrodactyly	13
1774		CHR254	Chromosome 5q Duplication	13
1775	c	DYS091	Dyschromatosis Universalis Hereditaria 2	13
1776		EPL095	Epilepsy with Myoclonic Absences	13
1777		LFT005	Left-Sided Gallbladder	13
1778		CHR274	Chromosome Xq Duplication	13
1779		SML040	Smoldering Systemic Mastocytosis	13
1780		PRM153	Primary Progressive Apraxia of Speech	13
1781		ANN009	Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly	13
1782		CNG400	Congenital Hereditary Endothelial Dystrophy Type I	13
1783		PRM238	Primary Intralymphatic Angioendothelioma	13
1784		URC012	Urachal Sinus	13
1785	c	USH046	Usher Syndrome, Type 1m	13
1786		SPN414	Spondylometaphyseal Dysplasia, East African Type	13
1787	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	13
1788		DYS181	Dyssegmental Dysplasia with Glaucoma	13
1789	c	SCN066	Secondary Erythromelalgia	13
1790		ICH018	Ichthyosis Linearis Circumflexa	13
1791		ONY004	Onychocytic Matricoma	13
1792	c	DPD002	Depdc5-Related Epilepsy	13
1793		SVR061	Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	13
1794		TMR022	Tumor of Meninges	13
1795		HYP482	Hyperinsulinism Due to Ucp2 Deficiency	13
1796		TCR004	Tacrolimus Dose Selection	13
1797		ACR113	Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma	13
1798		DST013	Distal Myopathy with Vocal Cord Weakness	13
1799		ANT064	Antidepressant or Antipsychotic Toxicity or Dose Selection	13
1800		CHR556	Chromosome 3q Duplication	13
1801	c	PLM169	Pulmonary Hypertension, Primary, Autosomal Recessive	13
1802		DYT003	Dyt-Gnal	13
1803		HNR001	Heiner Syndrome	13
1804		CRN039	Carnitine Acetyltransferase Deficiency	13
1805		IDP038	Idiopathic Acute Transverse Myelitis	13
1806	c	OTS009	Otosclerosis 5	13
1807	c	DYS194	Dysautonomia-Like Disorder	13
1808		ACR089	Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia	13
1809		EPD027	Epidermolysa Bullosa Simplex with Muscular Dystrophy	13
1810		CNG235	Congenital Microgastria	13
1811		MTS004	Metastatic Insulinoma	13
1812		FCL087	Facial Infiltrating Lipomatosis	13
1813	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	13
1814		CMP062	Complication After Organ Transplantation	13
1815		SRN003	Seronegative Autoimmune Hepatitis	13
1816		ATL006	Atlanto-Axial Fusion	13
1817		BLD072	Bleeding Disorder, East Texas Type	13
1818	c	ANR029	Aneurysm, Intracranial Berry, 6	13
1819		GLY052	Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset	13
1820		MLT168	Multicore Disease	13
1821		CHR223	Chromosome 1q Deletion	13
1822		CLF019	Cleft Palate Short Stature Vertebral Anomalies	13
1823		INV015	Invasive Non-Typhoidal Salmonellosis	13
1824		BNG042	Benign Multicystic Peritoneal Mesothelioma	13
1825		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	13
1826		RKT003	Rokitansky-Aschoff Sinuses of the Gallbladder	13
1827		OBS116	Obsolete: Duplication 4q	13
1828		MDR001	Medeira-Dennis-Donnai Syndrome	13
1829		PLM188	Pulmonary Arterial Hypertension Associated with Another Disease	13
1830		CRY037	Cryptophthalmia	13
1831		11P002	11p15.4 Microduplication Syndrome	13
1832		RWL001	Rowley-Rosenberg Syndrome	13
1833		ASP009	Aspergillus Niger Infection	13
1834		EXT060	Extragonadal Teratoma	13
1835		CHR230	Chromosome 20q Deletion	13
1836		ATT023	Attenuated Chediak-Higashi Syndrome	13
1837	c	MTR057	Maternal Uniparental Disomy of Chromosome X	13
1838	c	SBC037	Subacute Inflammatory Demyelinating Polyneuropathy	13
1839		CRN310	Cranial Malformation	13
1840		MTT008	Mt-Atp6-Related Mitochondrial Spastic Paraplegia	13
1841		TRT022	True Thymic Hyperplasia	13
1842		DST079	Distal Trisomy 5q	13
1843		RBL002	Rubella Panencephalitis	13
1844		LTN022	Late-Onset Distal Myopathy, Markesbery-Griggs Type	13
1845	c	HYD070	Hydrocephalus, Congenital Communicating, 1	13
1846		MYL078	Myelodysplastic Syndrome with Single Lineage Dysplasia	13
1847		FNG014	Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature	13
1848		RCN002	Ricin Poisoning	13
1849		ACR027	Acrodysplasia Scoliosis	13
1850		EXS022	Exostosis, Dupuytren Subungual	13
1851		CHR195	Chromosome 14q Deletion	13
1852	c	UNP003	Uniparental Disomy of Chromosome 11	13
1853		PLG007	Pili Gemini	13
1854		BLL014	Bullous Diffuse Cutaneous Mastocytosis	12
1855		CNG519	Congenital Gerbode Defect	12
1856		HLL011	Hall-Riggs Syndrome	12
1857		GRN042	Granulomatous Lobular Mastitis	12
1858	P	ERY016	Erythropoietic Protoporphyria, Autosomal Recessive	12
1859		ERL023	Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation	12
1860	c	GLC102	Glaucoma 1, Open Angle, J	12
1861	c	INF119	Infantile Mercury Poisoning	12
1862	c	VCN001	Vcan-Related Vitreoretinopathy	12
1863		THR034	Thoracopelvic Dysostosis	12
1864		CHR206	Chromosome 16q Deletion	12
1865		PLM053	Pulmonary Artery Agenesis	12
1866		CTR009	Cataract Congenital Dominant Non Nuclear	12
1867	P	CNG326	Congenital Primary Megaureter	12
1868		CHR258	Chromosome 6q Duplication	12
1869		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	12
1870		THS001	Thai Symphalangism Syndrome	12
1871	c	SCL058	Scoliosis, Isolated 2	12
1872		CD4004	Cd4 Deficiency	12
1873		PRT180	Partial Deletion of the Long Arm of Chromosome 7	12
1874		BWH001	Bow Hunter's Stroke	12
1875		MRV001	Morvan's Fibrillary Chorea	12
1876		ATS292	Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	12
1877	c	INF052	Infantile Scoliosis	12
1878	c	HRD211	Hereditary Dentin Defect	12
1879		UNL006	Unilateral Focal Polymicrogyria	12
1880		VTM021	Vitamin K Antagonists Toxicity or Dose Selection	12
1881	c	MTC183	Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies	12
1882		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	12
1883		CHR458	Chromosome 9 Inversion	12
1884		CDN003	Codeine Toxicity	12
1885		XQ1001	Xq12-Q13.3 Duplication Syndrome	12
1886		MRF015	Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	12
1887		CLC060	Clcn4-Related X-Linked Intellectual Disability Syndrome	12
1888		CHR175	Chromhidrosis	12
1889		IRF001	Irf6-Related Disorders	12
1890		ECT024	Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features	12
1891		CLR130	Ciliary Dyskinesia with Defective Radial Spokes	12
1892	c	ATM057	Autoimmune Thyroid Disease 2	12
1893		PRT213	Partial Duplication of Chromosome 19	12
1894		ACR040	Acromelanosis	12
1895		PCR003	Pauciarticular Onset Juvenile Idiopathic Arthritis	12
1896	c	SYN050	Syndactyly Type 6	12
1897		NNP018	Non-Paraneoplastic Limbic Encephalitis	12
1898		IDP023	Idiopathic Subglottic Tracheal Stenosis	12
1899		FBR026	Fibromatosis Multiple Non Ossifying	12
1900		LRG010	L-Arginine:glycine Amidinotransferase Deficiency	12
1901		LPM011	Lip, Median Nodule of Upper	12
1902		INF059	Infundibulopelvic Dysgenesis	12
1903		ANN018	Anonychia, Total, with Microcephaly	12
1904		SPR028	Spirochetes Disease	12
1905		CLF040	Cleft Lip-Retinopathy Syndrome	12
1906		CHR255	Chromosome 6p Deletion	12
1907		PTT038	Pituitary Deficiency Due to Empty Sella Turcica Syndrome	12
1908		MSN011	Mesangioproliferative Glomerulopathy	12
1909		CYS035	Cystic Adventitial Disease	12
1910		THR083	Third Branchial Cleft Anomaly	12
1911		CMP031	Complement Component Deficiency	12
1912		GLM017	Glomus Tympanicum Tumor	12
1913		NSL021	Nasal Encephalocele	12
1914		ISC019	Ischiovertebral Syndrome	12
1915	c	ACQ036	Acquired Angioedema Type 2	12
1916		CNG335	Congenital Ectropion Uveae	12
1917		HRD141	Hereditary Proximal Myopathy with Early Respiratory Failure	12
1918		MND008	Mandibular Arteriovenous Malformation	12
1919		ANM075	Anomalous Aortic Origin of Coronary Artery	12
1920		SVR093	Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	12
1921		CHR233	Chromosome 21q Deletion	12
1922	c	KLZ002	Kala-Azar 2	12
1923	c	ANR025	Aneurysm, Intracranial Berry, 10	12
1924		ANM076	Anomalous Aortic Origin of the Right Coronary Artery	12
1925	c	PPL045	Papular Mucinosis of Infancy	12
1926	c	CNG343	Congenital Coronary Artery Aneurysm	12
1927		RHZ006	Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa	12
1928		DST071	Distal Monosomy 19p13.3	12
1929		XLN145	X-Linked Intellectual Disability, Pai Type	12
1930		ART129	Arterial Dissection with Lentiginosis	12
1931	c	GLC080	Glaucoma 1, Open Angle, N	12
1932		RHB007	Rhabdomyomatous Mesenchymal Hamartoma	12
1933		PRL020	Paralysis Agitans, Juvenile, of Hunt	12
1934		ISL131	Isolated Foveal Hypoplasia	12
1935		LCT018	Lactobezoar	12
1936		INT228	Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	12
1937		ONY002	Onychotrichodysplasia and Neutropenia	12
1938		TXN001	Toxin-Mediated Infectious Botulism	12
1939		CND035	Cone Dystrophy, X-Linked, with Tapetal-Like Sheen	12
1940		CMP084	Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome	12
1941		CMP070	Complete Atrioventricular Canal-Left Heart Obstruction Syndrome	12
1942	c	EZH001	Ezh2-Related Overgrowth	12
1943		CMP085	Camptomelic Syndrome, Long-Limb Type	12
1944		HND011	Hendra Virus Infection	12
1945		SXC004	Sex Chromosome Disorder of Sex Development	12
1946		DYS208	Dysostosis with Brachydactyly	12
1947		JMC001	Jamaican Vomiting Sickness	12
1948		NYS007	Nystagmus, Hereditary Vertical	12
1949		TRC112	Trochlea of the Humerus, Aplasia of	12
1950		PRP103	Peripapillary Staphyloma	12
1951		LMY006	Leiomyoma of Vulva and Esophagus	12
1952		CHR231	Chromosome 20q Duplication	12
1953		TRC088	Trochleitis	12
1954	c	USH011	Usher Syndrome, Type 2b	12
1955	c	PSR034	Psoriasis 15	12
1956		CHR210	Chromosome 17q Duplication	11
1957		CHR217	Chromosome 19q Deletion	11
1958		CYS023	Cystic Medial Necrosis of Aorta	11
1959		TXC021	Toxicity or Absent Response to Clozapine	11
1960		CHR260	Chromosome 7p Deletion	11
1961		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	11
1962	P	ISL045	Isolated Focal Cortical Dysplasia Type I	11
1963		CNG131	Congenital Unilateral Pulmonary Hypoplasia	11
1964		CHR185	Chromosome 11p Deletion	11
1965		MDL007	Medial Medullary Syndrome	11
1966	c	RTN226	Retinal Ciliopathy Due to Mutation in Usher Gene	11
1967		CTR005	Cataract and Congenital Ichthyosis	11
1968		ANG033	Angiomyomatous Hamartoma	11
1969		INF134	Infective Myositis	11
1970		TGV001	Togaviridae Disease	11
1971	P	PRM298	Primary Peritoneal Tumor	11
1972	c	CNG253	Congenital Communicating Hydrocephalus	11
1973		SPR080	Spirillary Rat-Bite Fever	11
1974		TRY006	Tryptophanuria with Dwarfism	11
1975		SLN002	Selenium Poisoning	11
1976		CHR203	Chromosome 16p Duplication	11
1977		CNG459	Congenital Myopathy with Myasthenic-Like Onset	11
1978		ALC030	Alect2 Amyloidosis	11
1979		CRD015	Cardiac Hydatid Cysts with Intracavitary Expansion	11
1980		FGS003	Fg Syndrome 3	11
1981		SRP007	Serpinopathy	11
1982		VRL018	Virilizing Ovarian Tumor	11
1983		ACT096	Acute Cholinergic Dysautonomia	11
1984	c	CNG455	Congenital Aortopulmonary Window	11
1985		STT044	Statin Toxicity	11
1986		TBC002	Tbc1d24-Related Disorders	11
1987		PST112	Post-Traumatic Pituitary Deficiency	11
1988		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	11
1989		CLR026	Ciliary Dyskinesia with Excessively Long Cilia	11
1990		GNT118	Genetic Syndrome with a Dandy-Walker Malformation As Major Feature	11
1991		CHR235	Chromosome 22q Deletion	11
1992		PST109	Postinfectious Encephalitis	11
1993		MDP001	Midphalangeal Hair	11
1994	c	JBR048	Joubert Syndrome 36	11
1995		LPC004	Lipoic Acid Biosynthesis Defects	11
1996		ACR080	Acral Persistent Papular Mucinosis	11
1997		CNG053	Congenital Amputation	11
1998	c	AMY014	Amyloidosis Nodular Localized Cutaneous	11
1999	c	CHR689	Chronic Polyradiculoneuropathy	11
2000		LMY012	Leiomyosarcoma of the Cervix Uteri	11
2001		EPS046	Epstein-Barr Virus-Related Tumor	11
2002	P	CNG595	Congenital Alacrima	11
2003		RTN201	Retinoschisis, Autosomal Dominant	11
2004		CHR218	Chromosome 19q Duplication	11
2005		MTR084	Maternal Hyperthermia-Induced Birth Defects	11
2006	c	UNP004	Uniparental Disomy of Chromosome 2	11
2007		LPC003	Lipoic Acid Synthetase Deficiency	11
2008		FRM006	Formaldehyde Poisoning	11
2009		BRR006	Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification	11
2010	c	MTC199	Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis	11
2011		CHR221	Chromosome 1p Duplication	11
2012	c	SCL059	Scoliosis, Isolated 4	11
2013	c	SCL060	Scoliosis, Isolated 5	11
2014		RLF001	Rela Fusion-Positive Ependymoma	11
2015		CHR459	Chromosome Xp Deletion	11
2016		ALP098	Alpha-2-Deficient Collagen Disease	11
2017		MCR357	Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	11
2018		GNT037	Genetic Hyperferritinemia Without Iron Overload	11
2019		OBS544	Obsolete: Methotrexate Poisoning	11
2020		CRB080	Cor Biloculare	11
2021		BLR012	Biliary Hypoplasia	11
2022		HYP176	Hypertelorism and Tetralogy of Fallot	11
2023	c	ALP037	Alopecia, Androgenetic, 3	11
2024	c	RST019	Restless Legs Syndrome 8	11
2025		MCD003	Mcdowall Syndrome	11
2026		PRT186	Partial Duplication of the Long Arm of Chromosome X	11
2027		SVR086	Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	11
2028		DPL010	Duplication of the Esophagus	11
2029		OBS634	Obsolete: Autosomal Dominant Focal Dystonia, Dyt7 Type	11
2030		ADV004	Adverse Events of 5-Alpha-Reductase Inhibitors	11
2031		NTR048	Neutropenia, Lethal Congenital, with Eosinophilia	11
2032		SJG009	Sjogren-Larsson-Like Ichthyosis Without Cns or Eye Involvement	11
2033	c	ANR050	Aneurysm, Intracranial Berry, 12	11
2034		IDP036	Idiopathic Bilateral Vestibulopathy	11
2035		RHZ007	Rhizomelic Pseudopolyarthritis	11
2036		AST008	Asternia	11
2037	c	ICH016	Ichthyosis Lamellar 3	11
2038		ALL025	Allopurinol Toxicity	11
2039		PRT185	Partial Deletion of the Long Arm of Chromosome 13	11
2040		MYL051	Myalgia-Eosinophilia Syndrome Associated with Tryptophan	11
2041		PLY165	Polyosteolysis-Hyperostosis Syndrome	11
2042		ERY018	Erythema Nodosum, Idiopathic	11
2043		KST002	Kuster Syndrome	11
2044		XNT007	Xanthogranulomatous Sialadenitis	11
2045		PLC012	Pleoconial Myopathy with Salt Craving	11
2046		ACQ011	Acquired Agranulocytosis	11
2047		CHN026	Chondrodysplasia Calcificans Metaphysealis	11
2048	c	TRR002	Trio-Related Intellectual Disability	11
2049		RSR001	Reese Retinal Dysplasia	10
2050		CHR228	Chromosome 20p Deletion	10
2051		MTH053	Methotrexate Dose Selection	10
2052	c	ISC021	Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome	10
2053		PRS112	Persistent Eustachian Valve	10
2054		MLT172	Multiple Metaphyseal Dysplasia	10
2055		SPN339	Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	10
2056		DBL015	Double Outlet Right Atrium	10
2057		SPL021	Split Hand Split Foot Nystagmus	10
2058		DTR002	Dieterich's Disease	10
2059		PRT163	Partial Deletion of the Short Arm of Chromosome 5	10
2060		ACT168	Acute Annular Outer Retinopathy	10
2061		LKN006	Leukoencephalopathy, Cerebral Calcifications, and Cysts	10
2062		HYP668	Hypospadias-Intellectual Disability, Goldblatt Type Syndrome	10
2063		HFT001	Hooft Disease	10
2064		ISL154	Isolated Exencephaly	10
2065		MSC087	Mosaic Trisomy 4	10
2066		ANN019	Anonychia-Ectrodactyly	10
2067	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	10
2068		SYM005	Symmastia	10
2069		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	10
2070		RDS004	Rud Syndrome	10
2071		NLL003	Null Pituitary Adenoma	10
2072		ISL112	Isolated Congenital Hepatic Fibrosis	10
2073	P	OBS551	Obsolete: Ehlers-Danlos Syndrome Type 1	10
2074		INC014	Incessant Infant Ventricular Tachycardia	10
2075	c	WDR002	Wdr26-Related Intellectual Disability	10
2076		MRN008	Marin-Amat Syndrome	10
2077		SYN109	Syndrome with a Dandy-Walker Malformation As Major Feature	10
2078	c	CNG257	Congenital Pulmonary Sequestration	10
2079		DSC010	Discrete Papular Lichen Myxedematosus	10
2080	c	GLC032	Glaucoma, Hereditary	10
2081	c	SPN401	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	10
2082		CNG575	Congenital Joint Dislocations	10
2083		CNG244	Congenital Laryngeal Cyst	10
2084		RDT003	Radiation Induced Angiosarcoma of the Breast	10
2085		INT248	Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	10
2086		ATS453	Autosomal Anomaly	10
2087		CHR267	Chromosome 8q Deletion	10
2088		CHR186	Chromosome 11p Duplication	10
2089		CYN006	Cyanide-Induced Parkinsonism-Dystonia	10
2090		ATY027	Atypical Lichen Myxedematosus	10
2091		TRR003	Terrien Marginal Degeneration	10
2092		OBS410	Obsolete: Central Polydactyly of Toes	10
2093		PRT138	Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	10
2094		CLR128	Ciliary Discoordination Due to Random Ciliary Orientation	10
2095		TRD004	Taurodontism, Microdontia, and Dens Invaginatus	10
2096		TRC060	Trichoscyphodysplasia	10
2097		CHR191	Chromosome 12q Deletion	10
2098		DCK001	Dock2 Deficiency	10
2099		PRX078	Preaxial Polydactyly of Fingers	10
2100		ISL139	Isolated Congenital Hypogonadotropic Hypogonadism	10
2101	c	PRM185	Primary Essential Cutis Verticis Gyrata	10
2102	c	ZYG005	Zygodactyly Type 4	10
2103		IGG010	Igg4-Related Aortitis	10
2104		CNG516	Congenital Cervical Spinal Stenosis	10
2105		PRM330	Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly	10
2106	c	SCN010	Scn9a-Related Inherited Erythromelalgia	10
2107		CNG472	Congenital Insensitivity to Pain with Severe Intellectual Disability	10
2108		PRT111	Partial Septate Uterus	10
2109		LPD038	Lipedematous Scalp	10
2110	c	PTR015	Paternal Uniparental Disomy of Chromosome X	10
2111		TRS009	Trisomy 12 Mosaicism	10
2112		BST005	Bustos Simosa Pinto Cisternas Syndrome	10
2113		MCR184	Macrodactyly of Fingers	10
2114		DSM014	Desmoplastic Infantile Astrocytoma/ganglioglioma	10
2115		PRT160	Partial Deletion of the Short Arm of Chromosome 4	10
2116		ISL065	Isolated Congenital Alacrima	10
2117		RDT016	Radiation-Induced Plexopathy	10
2118		OBS123	Obsolete: Amniotic Bands	10
2119	c	HYP449	Hypertension, Essential 3	10
2120	c	HYP450	Hypertension, Essential 4	10
2121		AHM001	Ahumada Del Castillo Syndrome	10
2122		WHT012	White Fibrous Papulosis of the Neck	10
2123		CHT001	Chaotic Atrial Tachycardia	10
2124		ARW003	Airway-Centered Interstitial Fibrosis	10
2125		OBS541	Obsolete: Bullous Systemic Lupus Erythematosus	10
2126		CNG097	Congenital Giant Megaureter	10
2127		BRN050	Branchial Arch Defects	10
2128		PTT019	Pituitary Dwarfism with Large Sella Turcica	10
2129		CQR001	Coq-Responsive Oxphos Deficiency	10
2130		DFF017	Diffuse Cavernous Hemangioma of the Rectum	10
2131		WND003	Windblown Hand	10
2132		OBS865	Obsolete: Congenital Valvular Dysplasia	10
2133		IDP079	Idiopathic Dropped Head Syndrome	10
2134		CHR234	Chromosome 21q Duplication	10
2135		BRN058	Brunsting-Perry Syndrome	10
2136		ERY024	Erythropoietic Uroporphyria Associated with Myeloid Malignancy	10
2137		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	10
2138		RNP002	Renoprival Hypertension	9
2139	c	PTR019	Paternal Uniparental Disomy of Chromosome 5	9
2140	c	PLR018	Pleuropulmonary Blastoma Type 1	9
2141		OBS830	Obsolete: Autosomal Dominant Spastic Paraplegia Type 9	9
2142		MLT158	Multiple Exostoses with Spastic Tetraparesis	9
2143		SNS012	Sinus Node Disease and Myopia	9
2144		GNT022	Giant Mammary Hamartoma	9
2145		MCL020	Macules Hereditary Congenital Hypopigmented and Hyperpigmented	9
2146		CHR237	Chromosome 2p Deletion	9
2147		CLS033	Clostridium Sordellii Infection	9
2148	c	GM2001	Gm2 Gangliosidosis, 0 Variant	9
2149		MCR090	Microspherophakia with Hernia	9
2150		PRT162	Partial Deletion of the Short Arm of Chromosome 6	9
2151		FND005	Fundus Pulverulentus	9
2152		STC008	Stocco Dos Santos Syndrome	9
2153	c	APL027	Aplasia Cutis Congenita of Limbs, Autosomal Recessive	9
2154		ACH016	Achard Thiers Syndrome	9
2155		CNG283	Congenital Pseudoarthrosis of the Femur	9
2156		CRP029	Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	9
2157		CHR216	Chromosome 19p Duplication	9
2158		CTR030	Citrulline Transport Defect	9
2159		CRY020	Cryptogenic Late-Onset Epileptic Spasms	9
2160		PRT153	Partial Deletion of Chromosome 11	9
2161		GRN053	Grin2b Related Syndrome	9
2162		HRP036	Herpesvirus Simiae B Virus Infection	9
2163		HMR042	Humero-Ulnar Synostosis	9
2164		AGN006	Agnathia-Microstomia-Synotia	9
2165		ACC010	Accessory Tricuspid Valve Tissue	9
2166	P	RCR003	Recurrent Peripheral Facial Palsy	9
2167		SCR023	Sacral Plexopathy	9
2168		INF139	Infantile Choroidocerebral Calcification Syndrome	9
2169		PRT106	Partial Duplication of the Short Arm of Chromosome X	9
2170		CRT077	Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	9
2171	c	HMR041	Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation	9
2172		ADN079	Adenosine Triphosphatase Deficiency, Anemia Due to	9
2173		SPL017	Splenogonadal Fusion Limb Defects Micrognatia	9
2174		ZSK001	Zuska's Disease	9
2175	c	RTN223	Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene	9
2176		ISL049	Isolated Dandy-Walker Malformation Without Hydrocephalus	9
2177		ISL050	Isolated Dandy-Walker Malformation with Hydrocephalus	9
2178		IDP042	Idiopathic Recurrent Stupor	9
2179		CNG272	Congenital Achiasma	9
2180	c	PRM317	Primary Qualitative or Quantitative Defects of Alpha-Dystroglycan	9
2181	c	MTR064	Maternal Uniparental Disomy of Chromosome 22	9
2182		GRN018	Granulomas, Congenital Cerebral	9
2183		BYL003	Baylisascaris Infection	9
2184		PRT219	Partial Duplication of the Short Arm of Chromosome 6	9
2185		MSM006	Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type	9
2186		AMN016	Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis	9
2187		CNG255	Congenital Temporomandibular Joint Ankylosis	9
2188		CHR287	Chronic Polyradiculoneuritis	9
2189		MSC013	Mosaic Monosomy 18	9
2190		PRT218	Partial Duplication of the Short Arm of Chromosome 3	9
2191		CRH002	Crohn's Disease of the Esophagus	9
2192		PST076	Postcardiotomy Right Ventricular Failure	9
2193		PRT202	Partial Duplication of the Long Arm of Chromosome 6	9
2194		CNG327	Congenital Epstein-Barr Virus Infection	9
2195	c	OBS550	Obsolete: Ehlers-Danlos Syndrome Type 2	9
2196		CNG117	Congenital Nonhemolytic Jaundice	9
2197	P	ANM056	Anomaly of Chromosome 10	9
2198		XLN212	X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	9
2199		PRT154	Partial Deletion of Chromosome 18	9
2200		RHB018	Rhabdomyosarcoma of the Corpus Uteri	9
2201		DST078	Distal Trisomy 6q	9
2202		MLT117	Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	9
2203		DVL026	Developmental Defect of the Eye	9
2204		PRT171	Partial Deletion of the Short Arm of Chromosome 18	9
2205	c	SCN009	Scn1a-Related Seizure Disorders	8
2206		PRT228	Partial Duplication of Chromosome 1	8
2207		PCH017	Pachygyria-Intellectual Disability-Epilepsy Syndrome	8
2208	c	OBS841	Obsolete: Ehlers-Danlos Syndrome Type 7a	8
2209		NYS008	Nystagmus, Myoclonic	8
2210		CHP001	Chapare Hemorrhagic Fever	8
2