Rare Diseases Category (14542 diseases)

Including: rare
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		HRD090	Harderoporphyria	24
2		FRG013	Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)	18
3	c	TBR025	Tuberous Sclerosis 1	84
4		MRF001	Marfan Syndrome	76
5	P	LYN001	Lynch Syndrome	76
6		PLM134	Pulmonary Fibrosis, Idiopathic	76
7		BRT054	Brittle Bone Disorder	74
8	P	RSP003	Respiratory Failure	74
9		BSL036	Basal Cell Nevus Syndrome	73
10	P	APL001	Aplastic Anemia	73
11	c	GLY008	Glycogen Storage Disease Ii	72
12	P	MTC003	Metachromatic Leukodystrophy	71
13	c	NRF023	Neurofibromatosis, Type Ii	71
14	P	AMY004	Amyloidosis	70
15	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	70
16	P	GCH001	Gaucher's Disease	70
17	P	MPL001	Maple Syrup Urine Disease	70
18	P	CHR012	Chronic Granulomatous Disease	69
19	P	TBR001	Tuberous Sclerosis	69
20		LYM007	Lymphangioleiomyomatosis	68
21		CRT072	Creutzfeldt-Jakob Disease	68
22		MLD001	Melioidosis	67
23		CRB037	Cerebral Palsy	67
24	P	DBT009	Diabetes Mellitus	67
25		CHD001	Chediak-Higashi Syndrome	67
26	c	JVN010	Juvenile Rheumatoid Arthritis	66
27		SND001	Sandhoff Disease	66
28		NVS017	Nevus, Epidermal	66
29	c	LNG044	Long Qt Syndrome 1	66
30	c	HRD010	Hereditary Spastic Paraplegia	66
31	P	DMN002	Dementia	66
32		ANG054	Angina Pectoris	66
33	c	HMP022	Hemophagocytic Lymphohistiocytosis, Familial, 1	66
34		CHG001	Chagas Disease	66
35	P	HRM001	Hermansky-Pudlak Syndrome	65
36	c	DNG003	Dengue Disease	65
37	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	65
38		PRP001	Propionic Acidemia	65
39	P	VNW001	Von Willebrand's Disease	65
40	c	GM1007	Gm1 Gangliosidosis	65
41		GLL008	Gilles De La Tourette Syndrome	65
42		GRN037	Granulomatosis with Polyangiitis	64
43		CHY002	Chylomicron Retention Disease	64
44		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	64
45		AFB002	Afibrinogenemia, Congenital	64
46	P	HRD011	Hereditary Spherocytosis	64
47	P	CHL002	Childhood Absence Epilepsy	63
48		KND001	Kindler Syndrome	63
49		OMN001	Omenn Syndrome	63
50		KRN002	Kearns-Sayre Syndrome	63
51	c	NRD017	Neurodegeneration with Brain Iron Accumulation 1	63
52	c	CRD186	Ceroid Lipofuscinosis, Neuronal, 3	63
53	P	NTR004	Neutropenia	63
54		DGR001	Digeorge Syndrome	62
55		LYM017	Lyme Disease	62
56		ERL001	Early Myoclonic Encephalopathy	62
57	c	INT072	Intestinal Pseudo-Obstruction	62
58	c	FNC043	Fanconi Anemia, Complementation Group E	62
59		BTN003	Biotinidase Deficiency	62
60	P	FNG006	Feingold Syndrome 1	62
61	P	BCK002	Beckwith-Wiedemann Syndrome	62
62		TRG002	Trigeminal Neuralgia	61
63	c	CLR131	Ciliary Dyskinesia, Primary, 1	61
64	P	ALC033	Alcohol Use Disorder	61
65		ARG002	Argininosuccinic Aciduria	61
66		NRM001	Neuromyelitis Optica	61
67	P	ACT010	Acth-Secreting Pituitary Adenoma	61
68		PHL006	Phelan-Mcdermid Syndrome	60
69		HYP458	Hyper Ige Syndrome	60
70	P	VTL004	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	60
71		CRY005	Cryptococcosis	60
72		ESP020	Esophageal Atresia	60
73	P	PLY017	Polyarteritis Nodosa	60
74	c	LTN004	Late-Onset Retinal Degeneration	60
75	P	INT143	Interstitial Cystitis	60
76		CHL067	Cholecystitis	60
77		PMS001	Poems Syndrome	60
78		RHM001	Rheumatic Fever	59
79	P	ALP009	Alopecia Areata	59
80		DNN001	Danon Disease	59
81	c	SVR003	Severe Congenital Neutropenia	59
82		FLR001	Filarial Elephantiasis	59
83		NRN004	Neuroendocrine Tumor	59
84		DPH001	Diphtheria	59
85		PRT013	Portal Hypertension	59
86		ACY009	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of	59
87		TTZ003	Tietz Albinism-Deafness Syndrome	59
88		STT001	Status Epilepticus	59
89	P	EPS003	Episodic Ataxia	59
90	c	LYN004	Lynch Syndrome I	58
91	P	SHR029	Short Syndrome	58
92	P	CRN323	Cranioectodermal Dysplasia	58
93	c	CHL140	Chilblain Lupus 1	58
94		BRK001	Brooke-Spiegler Syndrome	58
95		CHL065	Cholangiocarcinoma	58
96		ASP002	Aspartylglucosaminuria	58
97	P	EHL001	Ehlers-Danlos Syndrome	58
98	P	ADM011	Adams-Oliver Syndrome	58
99		RGH009	Right Atrial Isomerism	57
100		SCR008	Scrub Typhus	57
101		ALP097	Alopecia Universalis Congenita	57
102		MXD005	Mixed Connective Tissue Disease	57
103		MTC027	Mitochondrial Trifunctional Protein Deficiency	57
104		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	57
105	P	NRF002	Neurofibromatosis	57
106	P	SCL018	Scoliosis	57
107		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	57
108	P	HDC001	Headache	57
109		CLF004	Cleft Lip/palate	57
110		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	57
111		SFT003	Soft Tissue Sarcoma	57
112	P	HYP050	Hyperinsulinemic Hypoglycemia	57
113		SCH014	Schistosomiasis	56
114	c	FRS014	Fraser Syndrome 1	56
115	P	SCK005	Sickle Cell Disease	56
116		ACN002	Acanthosis Nigricans	56
117		SLP001	Sleeping Sickness	56
118		DYS164	Dyskeratosis Congenita, X-Linked	56
119		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	56
120	P	EXD001	Exudative Vitreoretinopathy	56
121	P	MYS005	Myositis	56
122		GRS011	Gerstmann-Straussler Disease	56
123		CRY003	Cryptosporidiosis	56
124		FLR002	Filariasis	55
125	c	SCN036	Secondary Progressive Multiple Sclerosis	55
126		DYS192	Dystonia, Dopa-Responsive	55
127		CHR105	Choreoacanthocytosis	55
128		TRC096	Trichothiodystrophy	55
129	P	HYP024	Hypoparathyroidism	55
130		HYP706	Hypermobile Ehlers-Danlos Syndrome	55
131		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	55
132	P	ANT006	Antiphospholipid Syndrome	55
133	P	MRG008	Meier-Gorlin Syndrome 1	55
134		ACY005	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of	55
135		DNN002	Donnai-Barrow Syndrome	55
136		KRT002	Keratomalacia	55
137		RLP001	Relapsing Polychondritis	55
138		SYN007	Synovitis	55
139		EBS001	Ebstein Anomaly	55
140		PNL019	Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities	55
141		NNT017	Neonatal Adrenoleukodystrophy	54
142		ARS001	Aarskog-Scott Syndrome	54
143	c	FNC042	Fanconi Anemia, Complementation Group D2	54
144		FCT003	Factor X Deficiency	54
145	P	ALP008	Alopecia	54
146		PPL025	Popliteal Pterygium Syndrome	54
147		MBS002	Moebius Syndrome	54
148		SMT008	Smith-Magenis Syndrome	54
149	c	MCR240	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	54
150	P	HRD144	Hereditary Mixed Polyposis Syndrome	54
151	P	AGN002	Agnosia	54
152		TRD006	Tardive Dyskinesia	53
153		DPM001	Dopamine Beta-Hydroxylase Deficiency	53
154	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	53
155		PRN001	Purine Nucleoside Phosphorylase Deficiency	53
156		MNN032	Meningococcal Meningitis	53
157	P	VSC013	Visceral Heterotaxy	53
158		CCT002	Cicatricial Pemphigoid	53
159		FRN039	Frank-Ter Haar Syndrome	53
160		HLL004	Hellp Syndrome	53
161		SCH016	Schimke Immunoosseous Dysplasia	53
162		TRC023	Trichinosis	53
163	c	CTS045	Cutis Laxa, Autosomal Dominant 1	53
164		RSP023	Rasopathy	53
165		NCR004	Nocardiosis	53
166		THR009	Thrombocytopenia-Absent Radius Syndrome	53
167	c	LNG048	Long Qt Syndrome 3	53
168	P	STS003	Sitosterolemia	53
169		CNG046	Congenital Fiber-Type Disproportion	53
170		BRN003	Branchiooculofacial Syndrome	53
171	c	PRK086	Parkinson Disease 15, Autosomal Recessive Early-Onset	53
172	P	BSL038	Basal Ganglia Calcification, Idiopathic, 1	53
173		OCL039	Oculoectodermal Syndrome	52
174		NRL004	Neuroleptic Malignant Syndrome	52
175		OCL020	Ocular Cicatricial Pemphigoid	52
176		PRP016	Paraplegia	52
177		STV003	Stuve-Wiedemann Syndrome	52
178	P	RTN016	Retinal Degeneration	52
179	P	ECL001	Eclampsia	52
180	P	D2H002	D-2-Hydroxyglutaric Aciduria 1	52
181	P	MTH008	Methylmalonic Acidemia	52
182		LMB002	Lambert-Eaton Myasthenic Syndrome	52
183	c	PSR018	Psoriasis 13	52
184	P	NRD007	Neurodegeneration with Brain Iron Accumulation	52
185	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	52
186	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	52
187		MLB001	Mulibrey Nanism	52
188	c	USH035	Usher Syndrome Type 2	52
189	c	HNT004	Huntington Disease-Like 2	52
190	P	SLV027	Silver-Russell Syndrome 1	52
191		RST011	Restrictive Dermopathy, Lethal	51
192		END020	Endocardial Fibroelastosis	51
193		MLC004	Mulchandani-Bhoj-Conlin Syndrome	51
194		RFL001	Reflex Sympathetic Dystrophy	51
195	P	MRN003	Marinesco-Sjogren Syndrome	51
196		CLB002	Clubfoot	51
197		CRM001	Crimean-Congo Hemorrhagic Fever	51
198	c	BRD012	Bardet-Biedl Syndrome 11	51
199	c	OST126	Osteopetrosis, Autosomal Recessive 1	51
200		INT276	Interatrial Communication	51
201		DRR008	Diarrhea 1, Secretory Chloride, Congenital	51
202		KPS002	Kaposiform Hemangioendothelioma	50
203	P	THY054	Thyrotoxic Periodic Paralysis	50
204	c	OST120	Osteopetrosis, Autosomal Recessive 5	50
205		NTR018	Neutrophilia, Hereditary	50
206		LMB050	Limbal Stem Cell Deficiency	50
207	P	CMP008	Compartment Syndrome	50
208		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	50
209		ANM045	Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency	50
210		PST049	Postaxial Acrofacial Dysostosis	50
211	c	SVR005	Severe Pre-Eclampsia	50
212	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	49
213		SLT005	Solitary Median Maxillary Central Incisor	49
214		FLT009	Folate Malabsorption, Hereditary	49
215	P	TMP001	Temporal Lobe Epilepsy	49
216		MYC012	Mycetoma	49
217		WLL006	Wells Syndrome	49
218		PRC003	Proctitis	49
219		DDF001	Dedifferentiated Liposarcoma	49
220	c	WRD020	Waardenburg Syndrome, Type 4a	49
221	P	ALP061	Alopecia, Androgenetic, 1	49
222	c	46X049	46,xy Sex Reversal 2	49
223		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	49
224	P	MRC003	Mercury Poisoning	49
225		CRN041	Carnitine-Acylcarnitine Translocase Deficiency	49
226		CHR661	Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction	49
227	c	BRD018	Bardet-Biedl Syndrome 6	49
228		BTY001	Butyrylcholinesterase Deficiency	49
229	P	MCL001	Mucolipidosis	49
230		HPT009	Hepatopulmonary Syndrome	48
231	c	CRN108	Cranioectodermal Dysplasia 1	48
232	c	CNG027	Congenital Hemolytic Anemia	48
233	c	FNC032	Fanconi Anemia, Complementation Group B	48
234	c	LYM145	Lymphatic Malformation 5	48
235		FRN020	Frontal Fibrosing Alopecia	48
236	P	OCL001	Ocular Albinism	48
237		HMS001	Hemosiderosis	48
238	c	GRN061	Granulomatous Disease, Chronic, Autosomal Recessive, 4	48
239		FBR032	Fibromuscular Dysplasia	48
240		IDP074	Idiopathic Bronchiectasis	48
241	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	48
242	P	CLL015	Collagen Disease	48
243		SML028	Semilobar Holoprosencephaly	48
244		DHY016	Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema	47
245		SPH010	Sphingolipidosis	47
246	c	AMY009	Amyloidosis Aa	47
247	c	MCK033	Meckel Syndrome, Type 4	47
248		DPN005	Du Pan Syndrome	47
249	P	RDL002	Radioulnar Synostosis	47
250		MRF007	Marfanoid Hypermobility Syndrome	47
251	P	GND004	Gonadal Dysgenesis	47
252	P	GNG025	Gingival Fibromatosis	47
253	P	TRT019	Torticollis	47
254	c	ACT076	Acute Myocarditis	47
255		NSS002	Neisseria Meningitidis Infection	47
256		CRD054	Cardiac Arrhythmia, Ankyrin-B-Related	47
257		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	47
258		MNC019	Monocarboxylate Transporter 1 Deficiency	47
259		ESN015	Eosinophilic Fasciitis	47
260		STV007	Stevens-Johnson Syndrome/toxic Epidermal Necrolysis	46
261		HRT030	Hartsfield Syndrome	46
262	c	GRN062	Granulomatous Disease, Chronic, Autosomal Recessive, 1	46
263		PST062	Pustulosis Palmaris Et Plantaris	46
264		EPT021	Epithelial Recurrent Erosion Dystrophy	46
265	c	LNG050	Long Qt Syndrome 5	46
266	P	VTR007	Vitreoretinopathy	46
267		VNZ002	Venezuelan Equine Encephalitis	46
268	P	DVL012	Developmental Dysplasia of the Hip 1	46
269	c	DRR009	Diarrhea 6	45
270	c	JBR015	Joubert Syndrome 6	45
271	c	LBR013	Leber Congenital Amaurosis 3	45
272	P	WHT013	White Sponge Nevus 1	45
273	c	TYP028	Type 1 Diabetes Mellitus 2	45
274		JVN033	Juvenile Nasopharyngeal Angiofibroma	45
275		THR013	Thoracic Outlet Syndrome	45
276		MCR225	Macrophage Activation Syndrome	45
277		PHS014	Phosphoglycerate Kinase 1 Deficiency	45
278	c	LNG051	Long Qt Syndrome 6	45
279		DRG026	Drug Reaction with Eosinophilia and Systemic Symptoms	45
280		URM005	Uremic Pruritus	45
281	P	TRM004	Trimethylaminuria	45
282		STS002	Situs Inversus	45
283		SNG007	Sengers Syndrome	45
284	c	XFP001	Xfe Progeroid Syndrome	45
285		TRS021	Triosephosphate Isomerase Deficiency	45
286	c	ACR116	Aicardi-Goutieres Syndrome 1	45
287		HSD004	Hsd10 Mitochondrial Disease	45
288		PTT037	Pituitary Tumors	44
289	P	GNG009	Gangliosidosis	44
290		LCK001	Locked-in Syndrome	44
291		MDL020	Midline Interhemispheric Variant of Holoprosencephaly	44
292	c	SCH079	Schizophrenia 1	44
293		MNG006	Monogenic Diabetes	44
294		MCR103	Microtia	44
295		HYP059	Hypertelorism, Microtia, Facial Clefting Syndrome	44
296		ALP095	Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	44
297	P	PSD003	Pseudohypoaldosteronism	44
298	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	44
299	P	DSR090	Disorder of Sexual Development	44
300		RNS001	Raine Syndrome	44
301	c	MCR137	Microphthalmia, Isolated 2	44
302		MTC023	Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes	44
303		MLT073	Multisystemic Smooth Muscle Dysfunction Syndrome	44
304		RDC006	Red Cell Aplasia	44
305	P	HRD018	Hair Disease	44
306	c	HRD142	Hereditary Xanthinuria	43
307		HYD001	Hydranencephaly	43
308		PMP004	Pemphigus Foliaceus	43
309		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	43
310	P	FBR003	Fibrous Histiocytoma	43
311		HMF009	Hemifacial Hyperplasia	43
312		HTR003	Heterotaxy	43
313		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	43
314		CHN010	Chondroma	43
315		CYT002	Cytokine Deficiency	43
316	c	HYP575	Hypotrichosis 7	43
317	c	PSR028	Psoriasis 7	43
318		DSC009	Discoid Lupus Erythematosus	43
319	c	HYP507	Hypotrichosis 1	43
320		PLN005	Palindromic Rheumatism	43
321	P	HRT035	Heart Block, Congenital	43
322	P	HYP121	Hypoalphalipoproteinemia	43
323	c	SPH013	Spherocytosis, Type 1	42
324	P	BRT047	Brittle Cornea Syndrome	42
325		BP1002	Bap1 Tumor Predisposition Syndrome	42
326		BTN002	Boutonneuse Fever	42
327		SRR001	Serrated Polyposis Syndrome	42
328	c	CNG513	Congenital Ptosis	42
329	c	NGH007	Night Blindness, Congenital Stationary, Type 1b	42
330		MTH078	Methylmalonic Aciduria, Cblb Type	42
331		PRS115	Prosthetic Joint Infection	42
332		GLT005	Glutamate Formiminotransferase Deficiency	42
333		GRN017	Granulocytopenia	42
334		CLF056	Cleft Lip with or Without Cleft Palate	42
335		NNS002	Nonspecific Interstitial Pneumonia	42
336	c	NNN027	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2	42
337		FBR019	Fibromatosis	42
338		PCH007	Pouchitis	42
339	c	JBR016	Joubert Syndrome 10	42
340	P	HYP087	Hypotrichosis	42
341	c	LNG053	Long Qt Syndrome 9	42
342		IND002	Indolent Systemic Mastocytosis	42
343		SCR039	Scorpion Envenomation	41
344	c	PST041	Posterior Urethral Valves	41
345		PRK003	Parkes Weber Syndrome	41
346	P	KLZ004	Kala-Azar 1	41
347		PTC001	Potocki-Shaffer Syndrome	41
348		HMH004	Hemihyperplasia, Isolated	41
349		HMP009	Haemophilus Influenzae	41
350		IDP033	Idiopathic Edema	41
351		MYC069	Myoclonic-Astastic Epilepsy	41
352		ANP009	Anaplastic Oligodendroglioma	41
353		ATP013	Atopic Keratoconjunctivitis	41
354		BNS003	Binswanger's Disease	41
355	c	LNG056	Long Qt Syndrome 12	41
356		SCH037	Schinzel-Giedion Midface Retraction Syndrome	41
357	P	SPS008	Spastic Ataxia	41
358		VNC001	Von Economo's Disease	41
359		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	41
360		CLP005	Ciliopathy	41
361		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	41
362	c	HMC034	Hemochromatosis, Type 5	41
363		PLL008	Pallister-Killian Syndrome	41
364	c	BRT038	Baraitser-Winter Syndrome 1	41
365		PLY062	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy	41
366	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	41
367		FBR023	Fibrinogen Deficiency, Congenital	41
368	c	ART104	Arthrogryposis, Distal, Type 5d	41
369	P	HYP347	Hypotonia-Cystinuria Syndrome	41
370		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	41
371	P	SCL057	Scoliosis, Isolated 1	40
372		SPS004	Spastic Quadriplegia	40
373		OCH001	Ochronosis	40
374		ESN002	Eosinophilia-Myalgia Syndrome	40
375	c	ACT249	Acute Asthma	40
376	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	40
377	c	CNG198	Congenital Disorder of Glycosylation, Type Il	40
378		DPH019	Diaphanospondylodysostosis	40
379		IDP073	Idiopathic Hypercalciuria	40
380	P	MCR364	Macrodactyly	40
381		CHR518	Chromosome 9p Deletion Syndrome	40
382	c	MYP080	Myopathy, Myofibrillar, 4	40
383		MNT058	Mental Retardation, X-Linked, Syndromic, Turner Type	40
384	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	40
385		IVC001	Ivic Syndrome	40
386	c	HYP581	Hypotrichosis 6	40
387		PLG004	Plagiocephaly	40
388		BTR002	Beta-Ureidopropionase Deficiency	40
389	P	PRK101	Parkinsonism-Dystonia, Infantile, 1	40
390	c	LNG057	Long Qt Syndrome 13	40
391	c	SPH016	Spherocytosis, Type 4	39
392		ORN001	Ornithosis	39
393		PRM056	Primrose Syndrome	39
394	c	ATS307	Autosomal Recessive Cerebellar Ataxia	39
395	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	39
396		IDP064	Idiopathic Neutropenia	39
397		MNS001	Mansonelliasis	39
398		KRT063	Keratocystic Odontogenic Tumor	39
399		MTH046	Methylmalonic Acidemia Without Homocystinuria	39
400		CRV045	Cervical Intraepithelial Neoplasia	39
401		HMM004	Hamamy Syndrome	39
402		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	39
403	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	39
404		MYS004	Myiasis	39
405		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	39
406		AP4001	Ap-4-Associated Hereditary Spastic Paraplegia	38
407		PMP002	Pemphigoid Gestationis	38
408	c	PTT042	Pitt-Hopkins-Like Syndrome	38
409		SPS019	Spastic Paraparesis	38
410	c	CTR130	Cataract 9, Multiple Types	38
411		WLL004	Wallerian Degeneration	38
412	c	PRM092	Primary Lateral Sclerosis, Adult, 1	38
413	c	2HY001	2-Hydroxyglutaric Aciduria	38
414		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	38
415	c	HYP559	Hypotrichosis 8	38
416		CLF028	Cleft Soft Palate	38
417		WBR001	Weber Syndrome	38
418		HMF008	Hemifacial Atrophy, Progressive	38
419		TRG019	Trigonocephaly with Short Stature and Developmental Delay	38
420	c	ACT159	Acute Transverse Myelitis	38
421	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	38
422		HYD048	Hydrocephalus with Stenosis of the Aqueduct of Sylvius	38
423		SPN119	Spondylarthropathy	38
424		FBR064	Febrile Infection-Related Epilepsy Syndrome	38
425	c	CRN209	Cornelia De Lange Syndrome 5	37
426	c	AGM023	Agammaglobulinemia 4, Autosomal Recessive	37
427		MTH047	Methanol Poisoning	37
428	P	NNT042	Neonatal Lupus Erythematosus	37
429	c	PLL017	Pallister-Hall-Like Syndrome	37
430	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	37
431	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	37
432	c	MCR109	Microphthalmia, Isolated 4	37
433	c	BRD045	Bardet-Biedl Syndrome 19	37
434	c	STS007	Sotos Syndrome 2	37
435		PTT045	Pituitary Hormone Deficiency, Combined, 1	37
436		PHS022	Phosphoserine Phosphatase Deficiency	37
437		SYN086	Synostoses, Tarsal, Carpal, and Digital	37
438		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	37
439		CRT055	Creatine Deficiency Syndromes	37
440	c	CHR091	Chronic Meningitis	37
441		CHY005	Chylothorax, Congenital	37
442	P	XNT004	Xanthinuria	37
443		RVL002	Ruvalcaba Syndrome	37
444		VLV042	Vulvar Vestibulitis Syndrome	37
445	c	HYP548	Hypogonadotropic Hypogonadism 2 with or Without Anosmia	37
446	c	MCL044	Macular Degeneration, Age-Related, 9	37
447	c	CNR016	Cone-Rod Dystrophy 7	37
448		MLN011	Malonyl-Coa Decarboxylase Deficiency	37
449	c	RTN052	Retinitis Pigmentosa 23	37
450	c	DMN021	Diamond-Blackfan Anemia 6	37
451	c	ELL005	Elliptocytosis 2	37
452		NRW001	Norwegian Scabies	36
453	c	SCK029	Seckel Syndrome 7	36
454		END072	Endotheliitis	36
455	c	RTN159	Retinitis Pigmentosa 45	36
456		MYT003	Myotonic Disease	36
457		PST086	Posterior Cortical Atrophy	36
458		PTT063	Pattern Dystrophy	36
459		CMB015	Combined Oxidative Phosphorylation Deficiency 4	36
460		MYC017	Mycobacterium Kansasii	36
461		SPN438	Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy	36
462	P	ANT061	Antenatal Bartter Syndrome	36
463		CHR502	Chromosome 17q12 Duplication Syndrome	36
464	c	NGH027	Night Blindness, Congenital Stationary, Type 1c	36
465	c	CHR020	Chronic Interstitial Cystitis	36
466		TRP020	Tropical Endomyocardial Fibrosis	36
467	c	CNT101	Central Congenital Hypothyroidism	36
468	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
469		SPC031	Specific Learning Disability	36
470	c	HYP525	Hypotrichosis 2	36
471		MTC151	Mitochondrial Complex I Deficiency, Nuclear Type 20	36
472		BLP004	Blepharophimosis	36
473		SHW001	Shwartzman Phenomenon	36
474		ISL087	Isolated Oxycephaly	36
475	P	CNG048	Congenital Hepatic Fibrosis	36
476		INT020	Intravenous Leiomyomatosis	36
477		NTR011	Neutrophil-Specific Granule Deficiency	36
478		CHR704	Chromosome 16p11.2 Deletion Syndrome	36
479	c	ATM022	Autoimmune Myocarditis	36
480		PYG006	Pyogenic Granuloma	36
481	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	36
482		CNT057	Central Centrifugal Cicatricial Alopecia	36
483	c	INF076	Inflammatory Bowel Disease 18	36
484	P	CNG024	Congenital Nystagmus	36
485	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	36
486	c	LKD008	Leukodystrophy, Hypomyelinating, 4	36
487		FCH002	Fuchs' Heterochromic Uveitis	35
488		CNG041	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	35
489	c	BRC062	Brachydactyly, Type D	35
490		OPH002	Ophthalmia Neonatorum	35
491	P	MTP005	Metaphyseal Anadysplasia	35
492	c	ACR091	Aicardi-Goutieres Syndrome 4	35
493		TYP026	Typical Congenital Nemaline Myopathy	35
494	c	CTR111	Cataract 36	35
495		ALZ030	Alazami Syndrome	35
496		RTC012	Reticuloendotheliosis, X-Linked	35
497		GLM044	Glomerular Disease	35
498		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	35
499		MTC008	Mitochondrial Complex Iii Deficiency	35
500		DRR017	Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies	35
501	P	SLW003	Slow-Channel Congenital Myasthenic Syndrome	35
502	c	RTN171	Retinitis Pigmentosa 59	35
503	c	RTN036	Retinal Cone Dystrophy 4	35
504		HYP231	Hypothalamic Hamartomas	35
505	P	MYC026	Myoclonus Epilepsy	35
506		MTG002	Mutagen Sensitivity	35
507		SPT024	Spotted Fever Rickettsiosis	35
508		CMB016	Combined Oxidative Phosphorylation Deficiency 5	35
509	c	CNR025	Cone-Rod Dystrophy 15	35
510	c	ATM045	Autoimmune Glomerulonephritis	35
511	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	35
512	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	35
513		STR077	Streptococcal Toxic-Shock Syndrome	35
514	c	FNC059	Fanconi-Like Syndrome	35
515		PRP093	Pierpont Syndrome	35
516	c	HYP716	Hypermanganesemia with Dystonia 1	34
517		RCK002	Rocky Mountain Spotted Fever	34
518	P	HYP700	Hypomyelinating Leukodystrophy	34
519	c	SBC035	Subacute Cutaneous Lupus Erythematosus	34
520	c	CLR059	Ciliary Dyskinesia, Primary, 13	34
521		LPB001	Lipoblastoma	34
522		CLC011	Cloacal Exstrophy	34
523		LSN002	Loose Anagen Hair Syndrome	34
524		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	34
525		CRD016	Cardiac Rupture	34
526		MNN021	Meningococcemia	34
527		HMM005	Hemimelia	34
528	P	BRT040	Baraitser-Winter Syndrome	34
529		CLD011	Cold Urticaria	34
530		FXD003	Fixed Drug Eruption	34
531		CRB091	Cerebro-Oculo-Facio-Skeletal Syndrome	34
532		GNT006	Giant Papillary Conjunctivitis	34
533	P	ENT005	Entropion	34
534	c	NGH021	Night Blindness, Congenital Stationary, Autosomal Dominant 1	34
535		CMP040	Complement Component 4, Partial Deficiency of	34
536		CMB043	Combined Oxidative Phosphorylation Deficiency 9	34
537		INT232	Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	34
538	P	CHR084	Chromosomal Disease	34
539		MDM001	Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency	34
540		PST063	Postsynaptic Congenital Myasthenic Syndromes	34
541	c	STS011	Sitosterolemia 2	34
542		ATH010	Athyreosis	34
543		HMP018	Hemophilic Arthropathy	34
544		LMN011	Laminopathy	34
545		CHR178	Chromosomal Triplication	34
546	c	BRC060	Brachydactyly, Type E2	34
547	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	34
548		WTT002	Witteveen-Kolk Syndrome	34
549	c	RTN152	Retinitis Pigmentosa 66	33
550		PRX005	Peroxisomal Biogenesis Disorder	33
551	c	SPN102	Spinocerebellar Ataxia 30	33
552	c	ACR092	Aicardi-Goutieres Syndrome 5	33
553		FST010	Fasting Hypoglycemia	33
554		MYP035	Myopathy, Distal, with Anterior Tibial Onset	33
555	c	RST012	Restless Legs Syndrome 1	33
556	P	CXV002	Coxa Vara	33
557		FML330	Familial Lcat Deficiency	33
558	c	ART060	Arthrogryposis, Distal, Type 1b	33
559		LCH013	Lichen Planus Pemphigoides	33
560	c	SPS092	Spastic Paraplegia 11	33
561	P	SPS225	Spastic Paralysis, Infantile-Onset Ascending	33
562	P	RDC010	Reducing Body Myopathy	33
563		STC004	Stachybotrys Chartarum	33
564		GCH010	Gaucher Disease, Atypical, Due to Saposin C Deficiency	33
565		ELS002	Elastosis Perforans Serpiginosa	33
566		ATY003	Atypical Autism	33
567		CHR362	Chromosome 17q21.31 Duplication Syndrome	33
568		CRN302	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	33
569	c	VNT027	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	33
570		RMN001	Rumination Disorder	33
571	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	33
572		AMR003	Amaurosis Fugax	33
573		NNS011	Nonseminomatous Germ Cell Tumor	33
574	c	WLL040	Weill-Marchesani Syndrome 4	33
575	c	HYP577	Hypotrichosis 13	33
576		TXC020	Toxic Oil Syndrome	33
577		TKN001	Takenouchi-Kosaki Syndrome	33
578		HNS001	Hansen's Disease	32
579		MSC020	Mosaic Trisomy 8	32
580		CLF049	Cleft Lip and Alveolus	32
581		FML168	Familial Isolated Pituitary Adenoma	32
582	P	DSB002	Desbuquois Dysplasia	32
583		BRN133	Bronchomalacia	32
584		SGR001	Sugarman Brachydactyly	32
585		CMB077	Combined Oxidative Phosphorylation Deficiency 30	32
586	c	CLR056	Ciliary Dyskinesia, Primary, 10	32
587		PRG023	Progeroid Short Stature with Pigmented Nevi	32
588		MTC019	Metachromatic Leukodystrophy Due to Saposin B Deficiency	32
589	c	HRD220	Hereditary Spastic Paraplegia 30	32
590		BWN006	Bowen's Disease	32
591		PRX097	Paroxysmal Dystonia	32
592	P	DYS023	Dyschromatosis Universalis Hereditaria	32
593		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	32
594	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	32
595	c	SLV028	Silver-Russell Syndrome 3	32
596	c	PRM316	Primary Congenital Hypothyroidism	32
597	P	SCP010	Scapuloperoneal Myopathy	32
598		MTC112	Mitochondrial Dna-Associated Leigh Syndrome	32
599		WST010	West Nile Virus Infection	32
600	c	EPL188	Epilepsy, Progressive Myoclonic, 10	32
601		SCL025	Scleromyxedema	32
602	c	ATX033	Ataxia-Oculomotor Apraxia 4	32
603	c	HYP576	Hypotrichosis 4	32
604		MTH086	Methotrexate Toxicity	32
605		NRD024	Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart	32
606		ASC009	Ascites, Chylous	32
607		THM005	Thumb Deformity	32
608		ATN021	Autoinflammatory Syndrome	32
609		HVR001	Haverhill Fever	32
610	c	ADL015	Adult Liposarcoma	32
611		SMT007	Smith-Fineman-Myers Syndrome	32
612		MXL016	Maxillonasal Dysplasia, Binder Type	32
613		PST044	Postorgasmic Illness Syndrome	32
614	c	CNR003	Cone-Rod Dystrophy 1	31
615	P	PRC050	Pericardium Disease	31
616	c	JVN034	Juvenile Polyposis of Infancy	31
617		ORF053	Orofacial Clefting Syndrome	31
618		PPL050	Papillary Tumor of the Pineal Region	31
619		DYS001	Dyskinetic Cerebral Palsy	31
620		ODN005	Odontogenic Myxoma	31
621		INF046	Infantile Digital Fibromatosis	31
622		PTN004	Patent Ductus Venosus	31
623		PYR025	Pyruvate Dehydrogenase E2 Deficiency	31
624		MCP039	Mucoepithelial Dysplasia, Hereditary	31
625		PST103	Postpartum Psychosis	31
626		CHR386	Chromosome 6pter-P24 Deletion Syndrome	31
627	c	RNG017	Ring Chromosome 21	31
628	c	PRM026	Primary Systemic Mycosis	31
629	c	HYD040	Hydrolethalus Syndrome 2	31
630	P	PLY188	Polyendocrinopathy	31
631	c	SPN203	Spinocerebellar Ataxia, X-Linked 5	31
632	c	PRX057	Peroxisome Biogenesis Disorder 4a	31
633		HMN002	Human Granulocytic Anaplasmosis	31
634		CRR001	Carrion's Disease	31
635		THY098	Thyroid Ectopia	31
636		CHR523	Chromosome 15q11.2 Deletion Syndrome	31
637		ERL027	Early-Onset Non-Syndromic Cataract	31
638		SRC011	Sarcocystosis	31
639		AGM004	Agammaglobulinemia, Non-Bruton Type	31
640	c	DSB005	Desbuquois Dysplasia 2	30
641	c	MSC043	Muscular Dystrophy-Dystroglycanopathy , Type a, 2	30
642		3HY011	3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	30
643		INT104	Intravascular Papillary Endothelial Hyperplasia	30
644		CCN009	Cocaine Intoxication	30
645		LYS029	Lysosomal Disease	30
646	c	46X071	46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect	30
647	c	PRM015	Primary Cerebellar Degeneration	30
648		OSC001	Oeis Complex	30
649	c	CNG478	Congenital Diarrhea	30
650		EXN003	Exencephaly	30
651		48X003	48,xxyy Syndrome	30
652	c	ATM068	Autoimmune Hypoparathyroidism	30
653	c	CNR030	Cone-Rod Dystrophy 20	30
654	c	BRD051	Bardet-Biedl Syndrome 20	30
655		TRC035	Tracheal Agenesis	30
656	c	GLL040	Galloway-Mowat Syndrome 3	30
657		CPP003	Cap Polyposis	30
658		SNG003	Single Ventricular Heart	30
659	c	FRD006	Friedreich Ataxia 2	30
660		CDK006	Cdkl5 Deficiency Disorder	30
661	P	EPL003	Epulis	30
662	c	BRC099	Brachydactyly, Type A4	30
663		ACT228	Acute Radiation Syndrome	30
664		SPR034	Superior Limbic Keratoconjunctivitis	30
665	c	ACQ047	Acquired Methemoglobinemia	30
666	c	ACQ016	Acquired Pure Red Cell Aplasia	30
667	c	CLR134	Ciliary Dyskinesia, Primary, 3	30
668		IDP041	Idiopathic Recurrent Pericarditis	30
669	P	HRD214	Hereditary Periodic Fever Syndrome	30
670		PNT003	Pinta Disease	30
671	P	HRD209	Hereditary Angioedema with Normal C1inh	30
672		CND006	Candida Glabrata	30
673		ATY016	Atypical Werner Syndrome	29
674		LPD026	Lipedema	29
675		STT009	Sutton Disease 2	29
676		SKR001	Skraban-Deardorff Syndrome	29
677		PRC051	Paracetamol Poisoning	29
678	c	HYP515	Hypotrichosis 3	29
679	c	EXD010	Exudative Vitreoretinopathy 6	29
680		PYR016	Pyridoxine Deficiency	29
681	c	MCL059	Macular Dystrophy, Patterned, 1	29
682	P	MTR051	Maternal Uniparental Disomy of Chromosome 1	29
683		QLT008	Qualitative or Quantitative Defects of Dysferlin	29
684		MLT116	Multiple System Atrophy, Parkinsonian Type	29
685		CHR582	Chromosome 3q29 Duplication Syndrome	29
686		MYL080	Myalgic Encephalomyelitis/chronic Fatigue Syndrome	29
687	c	HYP528	Hypotrichosis 11	29
688		CHL078	Childhood-Onset Schizophrenia	29
689		LJH001	Lujo Hemorrhagic Fever	29
690		CMB013	Combined Oxidative Phosphorylation Deficiency 2	29
691	c	PRR021	Perrault Syndrome 4	29
692		ANR010	Aneurysm of Sinus of Valsalva	29
693		GNT019	Giant Cell Myocarditis	29
694		ODN006	Odontoma	29
695	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	29
696		MYC014	Mycobacterium Chelonae	29
697		LPG001	Lipogranulomatosis	29
698	c	RTN149	Retinitis Pigmentosa 42	29
699	c	INF185	Infantile Epilepsy Syndrome	29
700		SPR068	Sporadic Pheochromocytoma/secreting Paraganglioma	29
701	P	CHR200	Chromosome 16 Trisomy	29
702		ETH012	Ethylene Glycol Poisoning	29
703		MYC019	Mycobacterium Marinum	29
704		SLR005	Solar Urticaria	29
705		HYM001	Hymenolepiasis	29
706	c	PSR034	Psoriasis 15	29
707	c	ERL003	Early Onset Absence Epilepsy	29
708		CHR229	Chromosome 20p Duplication	29
709		GLY111	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib	29
710		PLT007	Palatopharyngeal Incompetence	29
711		MYP064	Myopericytoma	29
712	c	ACT047	Acute Endophthalmitis	29
713	P	ERL043	Early-Onset Nuclear Cataract	29
714	c	RDL040	Radioulnar Synostosis, Nonsyndromic	29
715	c	GLC100	Glaucoma 1, Open Angle, D	29
716		PLY138	Polymerase Proofreading-Related Adenomatous Polyposis	29
717		FRS007	Frias Syndrome	29
718		OVR097	Ovarian Fibrothecoma	28
719		BJL001	Bejel	28
720		CRN051	Craniofacial Microsomia	28
721		ARG006	Aregenerative Anemia	28
722	c	AMY081	Amyotrophic Lateral Sclerosis Type 12	28
723	c	ART131	Arthrogryposis, Distal, Type 4	28
724		CHR281	Chronic Hiccups	28
725	c	RTN117	Retinitis Pigmentosa 57	28
726		PSD046	Pseudotrisomy 13 Syndrome	28
727	P	HYP658	Hypoplastic Amelogenesis Imperfecta	28
728		SNC001	Sunct Headache	28
729	c	EPS037	Episodic Ataxia, Type 4	28
730	P	ADL037	Adult Xanthogranuloma	28
731	c	EPS015	Episodic Ataxia, Type 7	28
732		PTT016	Patterson Pseudoleprechaunism Syndrome	28
733		PRQ002	Paraquat Poisoning	28
734	c	PST008	Posterior Scleritis	28
735	c	RNG024	Ring Chromosome 8	28
736		MTH051	Methylmalonic Aciduria and Homocystinuria, Cblj Type	28
737		NVS007	Nevus of Ota	28
738	c	HYP552	Hypogonadotropic Hypogonadism 6 with or Without Anosmia	28
739	c	INF089	Inflammatory Bowel Disease 6	28
740		ENC014	Enchondroma	28
741		CHR399	Chromosome 4q21 Deletion Syndrome	28
742		XLN235	X-Linked Intellectual Disability with Marfanoid Habitus	28
743		CLC010	Calcifying Epithelial Odontogenic Tumor	28
744		LCH014	Lichen Amyloidosis	28
745	c	ATS209	Autosomal Dominant Secondary Polycythemia	28
746		ACD011	Acid Phosphatase Deficiency	28
747		XLN232	X-Linked Alport Syndrome-Diffuse Leiomyomatosis	28
748		CLV004	Calvarial Hyperostosis	28
749		UVL009	Uvula, Bifid	28
750		PNT001	Pontiac Fever	28
751		BTN005	Biotin-Thiamine-Responsive Basal Ganglia Disease	28
752	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	28
753		MST020	Mast Cell Activation Syndrome	28
754		PSD030	Pseudodiastrophic Dysplasia	28
755		ANG050	Angiocentric Glioma	28
756		FGS002	Fg Syndrome 2	28
757		KRB005	Krabbe Disease, Atypical, Due to Saposin a Deficiency	28
758	c	HYP518	Hypogonadotropic Hypogonadism 16 with or Without Anosmia	28
759		HYP021	Hypercementosis	28
760	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	27
761		CNG506	Congenital Amyoplasia	27
762		CHR270	Chromosome 9p Duplication	27
763	c	MRG011	Meier-Gorlin Syndrome 4	27
764		HSH004	Hashimoto Encephalopathy	27
765		CHR265	Chromosome 8p Duplication	27
766	c	ATS314	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	27
767	c	CLR091	Ciliary Dyskinesia, Primary, 14	27
768		STR033	Storm Syndrome	27
769	c	SPS072	Spastic Ataxia 1, Autosomal Dominant	27
770		TRC038	Tracheobronchomegaly	27
771	c	PRX062	Peroxisome Biogenesis Disorder 8b	27
772		16Q001	16q24.3 Microdeletion Syndrome	27
773	P	BLT016	Bilateral Polymicrogyria	27
774	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	27
775	c	RNG007	Ring Chromosome 12	27
776		SPN340	Spontaneous Intracranial Hypotension	27
777		GLT028	Glutaric Aciduria Iii	27
778	c	SCH084	Schizophrenia 8	27
779	c	SPS062	Spastic Paraplegia 34, X-Linked	27
780	c	MSC107	Muscular Dystrophy-Dystroglycanopathy , Type a, 10	27
781		WLL012	Williams-Beuren Region Duplication Syndrome	27
782		MYP099	Myopathy, Isolated Mitochondrial, Autosomal Dominant	27
783	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	27
784		PRS120	Persistent Idiopathic Facial Pain	27
785		PMP008	Pemphigus Vegetans	27
786		HLP004	Holoprosencephaly, Recurrent Infections, and Monocytosis	27
787	c	ACQ029	Acquired Porencephaly	27
788		NBL001	Nablus Mask-Like Facial Syndrome	27
789		INF118	Inflammatory Myopathy with Abundant Macrophages	27
790		GLC001	Glaucomatocyclitic Crisis	27
791		CHR190	Chromosome 12p Duplication	27
792		48X001	48, Xxxx	27
793		PDT027	Pediatric Ulcerative Colitis	27
794		PRX086	Paroxysmal Exertion-Induced Dyskinesia	27
795		SVR058	Severe Early-Childhood-Onset Retinal Dystrophy	27
796		ACR099	Acrofacial Dysostosis, Catania Type	27
797		MCR310	Microgastria-Limb Reduction Defects Association	27
798	c	RTN053	Retinitis Pigmentosa 24	27
799		CMP093	Complement Component 8 Deficiency, Type I	26
800		HYP180	Hypertrichosis Lanuginosa Congenita	26
801		RTB001	Rat Bite Fever	26
802		NCR001	Necrotizing Ulcerative Gingivitis	26
803		ARG004	Argyria	26
804		SPS090	Sepsis in Premature Infants	26
805		ISL084	Isolated Trigonocephaly	26
806		RFR007	Refractory Anemia with Excess Blasts in Transformation	26
807		CMP017	Camptocormism	26
808	c	ALZ059	Alzheimer Disease 13	26
809		ENG004	Engraftment Syndrome	26
810		ECT089	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia	26
811		FRN014	Fournier Gangrene	26
812	c	RTN116	Retinitis Pigmentosa 56	26
813		ASS004	Aase-Smith Syndrome I	26
814		WRT003	Warthin Tumor	26
815	c	XLN065	X-Linked Infantile Nystagmus	26
816		CRL001	Cerulean Cataract	26
817		NKJ001	Nakajo Syndrome	26
818		CHR248	Chromosome 4p Duplication	26
819		STR093	Striatonigral Degeneration, Childhood-Onset	26
820		CRN273	Corneal Dystrophy, Subepithelial Mucinous	26
821		HMF010	Hemifacial Microsomia with Radial Defects	26
822		STN013	Stenotrophomonas Maltophilia Infection	26
823		HML021	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency	26
824		FBR083	Fibrous Dysplasia/mccune-Albright Syndrome	26
825		STR007	Stress Polycythemia	26
826	c	SLV029	Silver-Russell Syndrome 2	26
827	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	26
828		FNC050	Functioning Gonadotropic Adenoma	26
829	P	IDP090	Idiopathic Eosinophilic Pneumonia	26
830		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	26
831		KLB004	Klebsiella Infection	26
832		MYC018	Mycobacterium Malmoense	26
833	P	HYP821	Hypermanganesemia with Dystonia	26
834		CYT018	Cytochrome P450 2d6 Variant	26
835	c	LTH047	Lethal Congenital Contracture Syndrome 3	26
836	c	RNG005	Ring Chromosome 10	26
837	c	46X047	46,xy Sex Reversal 7	26
838		OCC011	Occipital Encephalocele	26
839		DGT002	Digital Clubbing, Isolated Congenital	26
840		PRM315	Permanent Congenital Hypothyroidism	26
841	c	GLY093	Glycogen Storage Disease Ixa	26
842		HMC001	Homocarnosinosis	26
843		CHR266	Chromosome 8p23.1 Deletion	26
844		NCR009	Necrobiotic Xanthogranuloma	26
845	c	CLR123	Ciliary Dyskinesia, Primary, 37	26
846	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	25
847	c	FRN037	Frontal Encephalocele	25
848	c	CHR565	Chromosomal Deletion Syndrome	25
849		ART030	Aortic Arch Interruption	25
850	P	PRR032	Pura-Related Neurodevelopmental Disorders	25
851	P	ACT241	Acute Bilirubin Encephalopathy	25
852	c	ART157	Arthrogryposis, Distal, Type 2b3	25
853		OLG014	Oligocone Trichromacy	25
854		CRN042	Carnosinemia	25
855	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	25
856		PLS031	Plastic Bronchitis	25
857		AML011	Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2	25
858		NRL008	Neural Crest Tumor	25
859		ATR048	Atrial Tachyarrhythmia with Short Pr Interval	25
860		MTC036	Mitochondrial Membrane Protein-Associated Neurodegeneration	25
861	c	SYN064	Syndromic X-Linked Intellectual Disability	25
862	c	MLT078	Multiple Synostoses Syndrome 3	25
863	P	CRY006	Cryofibrinogenemia	25
864		MLT105	Multiple System Atrophy, Cerebellar Type	25
865	P	SPN382	Spinal Muscular Atrophy with Congenital Bone Fractures 1	25
866		MCR279	Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	25
867		CNG065	Congenital Contractures	25
868		CLB009	Coloboma of Iris	25
869		HRD037	Hardikar Syndrome	25
870		PSD026	Pseudoainhum	25
871	c	CHL114	Chilblain Lupus 2	25
872	c	ANM032	Anemia, Sideroblastic, 3, Pyridoxine-Refractory	25
873		HTT002	Hutterite Cerebroosteonephrodysplasia Syndrome	25
874	c	JVN058	Juvenile-Onset Parkinson's Disease	25
875	c	INF092	Inflammatory Bowel Disease 9	25
876	c	DRR018	Diarrhea 9	25
877	c	OTS005	Otosclerosis 1	25
878	c	RTN063	Retinitis Pigmentosa 34	25
879	c	DYS139	Dyschromatosis Universalis Hereditaria 3	25
880		RNG030	Ringed Hair	25
881		GGN004	Gigantomastia	25
882		SPC030	Specific Language Disorder	25
883		CRY010	Cryptophthalmos	25
884	c	CTR105	Cataract 12, Multiple Types	25
885	c	BRC053	Brachyolmia Type 2	25
886		FKY002	Fukuyama Type Muscular Dystrophy	25
887		ATH004	Athetosis	25
888	c	ART156	Arthrogryposis, Distal, Type 2b2	25
889		OCL030	Oculoauriculofrontonasal Syndrome	25
890		DYT005	Dyt-Thap1	25
891		FBR085	Fibrillary Glomerulonephritis	25
892	c	CHR449	Choroidal Dystrophy, Central Areolar 2	24
893	c	PSR031	Psoriasis 10	24
894	c	DVL073	Developmental and Epileptic Encephalopathy 48	24
895		DFC001	Defective Apolipoprotein B-100	24
896	c	CFF006	Coffin-Siris Syndrome 5	24
897	c	DYS090	Dyschromatosis Universalis Hereditaria 1	24
898		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	24
899		MYC001	Myoclonic Cerebellar Dyssynergia	24
900		HYP267	Hyperchlorhidrosis, Isolated	24
901		NN2002	Non 24 Hour Sleep Wake Disorder	24
902	c	JVN047	Juvenile Spondyloarthropathy	24
903	c	HRM020	Hermansky-Pudlak Syndrome 10	24
904		BRT037	Brittle Diabetes	24
905		KCN010	Kcnq2-Related Disorders	24
906		ANP007	Anaplastic Ganglioglioma	24
907	c	ATS370	Autism 3	24
908		PRM050	Primary Orthostatic Tremor	24
909		OVR098	Ovarian Fibroma	24
910		END051	Endolymphatic Sac Tumor	24
911		GYN003	Gynandroblastoma	24
912		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	24
913		OSP001	Oesophagostomiasis	24
914		SCH055	Schilbach-Rott Syndrome	24
915	c	ATS365	Autism X-Linked 1	24
916		CMB065	Combined Oxidative Phosphorylation Deficiency 26	24
917	P	PPL026	Papular Mucinosis	24
918		CNG092	Congenital Extrahepatic Portosystemic Shunt	24
919		CHR252	Chromosome 5p Duplication	24
920	c	PLT022	Pili Torti, Early-Onset	24
921	c	MTC075	Metachromatic Leukodystrophy, Late Infantile Form	24
922	c	JBR039	Joubert Syndrome 28	24
923		DHY008	Dihydroxyadeninuria	24
924	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	24
925		HMP028	Hemophagocytic Syndrome Associated with an Infection	24
926		MXD032	Mixed Germ Cell Tumor	24
927		CHR369	Chromosome Xq28 Duplication Syndrome	24
928		ACT094	Acute Articular Rheumatism	24
929	c	HTR023	Heterotaxy, Visceral, 6, Autosomal	24
930	c	MTC074	Metachromatic Leukodystrophy, Adult Form	24
931		ESN022	Eosinophilic Colitis	24
932		CNT063	Continuous Spike-Wave During Slow Sleep Syndrome	24
933		CMP041	Complement Factor D Deficiency	24
934	c	ATS432	Autosomal Dominant Distal Myopathy	24
935		MCR039	Macrophagic Myofasciitis	24
936	c	SLV031	Silver-Russell Syndrome 5	24
937		HYP642	Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency	24
938		FNT003	Fountain Syndrome	24
939	c	SCH061	Schizophrenia 16	24
940		PRT085	Peritoneal Cystic Mesothelioma	24
941		OCL070	Oculopalatocerebral Syndrome	24
942		CHR247	Chromosome 4p Deletion	23
943		MMM002	Mammary-Digital-Nail Syndrome	23
944		LGP003	Logopenic Progressive Aphasia	23
945	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	23
946		CLC053	Colchicine Poisoning	23
947		SPS211	Spasticity, Childhood-Onset, with Hyperglycinemia	23
948	P	MTC140	Mitochondrial Dna Maintenance Defects	23
949	P	PHC014	Phocomelia	23
950		PRT091	Partial Cryptophthalmia	23
951		VNZ001	Venezuelan Hemorrhagic Fever	23
952		LCH008	Lichen Planus Pigmentosus	23
953		NVR001	Nievergelt Syndrome	23
954		TRG006	Trigger Thumb	23
955	c	SCH082	Schizophrenia 5	23
956		GLY054	Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency	23
957		RTR012	Retroperitoneal Liposarcoma	23
958		CMP097	Complex Chromosomal Rearrangement	23
959	c	DPH016	Diaphragmatic Hernia 3	23
960		SCD003	Scedosporiosis	23
961		WLD006	Wild Type Abeta2m Amyloidosis	23
962		ACL002	Acalvaria	23
963	c	CRB217	Cerebellar Ataxia Type 42	23
964		EXR007	Exercise-Induced Anaphylaxis	23
965		RCK003	Rickettsialpox	23
966	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	23
967	c	DMN029	Diamond-Blackfan Anemia 11	23
968		NNT018	Neonatal Herpes	23
969	c	DMN028	Diamond-Blackfan Anemia 12	23
970		BRN129	Branchial Cleft Anomalies	23
971	c	SPS027	Spastic Paraplegia 17	23
972		IGG014	Igg4-Related Sclerosing Cholangitis	23
973	c	SCK022	Sick Sinus Syndrome 3	23
974		DRG016	Drug Induced Dyskinesia	23
975		CNG418	Congenital Intrauterine Infection-Like Syndrome	23
976		PST040	Posterior Column Ataxia	23
977	c	RNG013	Ring Chromosome 18	23
978		LLS001	Lelis Syndrome	23
979		XLN179	X-Linked Intellectual Disability, Turner Type	23
980	c	CNR032	Cone-Rod Dystrophy 21	23
981	c	MNK006	Menke-Hennekam Syndrome 2	23
982		DYS188	Dyskinesia, Limb and Orofacial, Infantile-Onset	23
983		HRP008	Herpes Simiae	23
984		TRC037	Tracheobronchomalacia	23
985		LTN022	Late-Onset Distal Myopathy, Markesbery-Griggs Type	23
986	c	LTH029	Lethal Congenital Contracture Syndrome 9	23
987		ART037	Arthrogryposis and Ectodermal Dysplasia	23
988		EPL011	Epilepsy, Benign Occipital	23
989	c	DVL098	Developmental and Epileptic Encephalopathy 74	23
990	c	RTN234	Retinitis Pigmentosa 90	23
991		AML005	Amelogenesis Imperfecta Hypomaturation Type	23
992	c	JBR047	Joubert Syndrome 35	23
993	c	PRC047	Precocious Puberty, Central, 1	23
994	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	23
995		PRT086	Partial Hydatidiform Mole	23
996	c	WLL035	Woolly Hair, Autosomal Recessive 3	23
997	c	MTP014	Metaphyseal Anadysplasia 2	23
998	c	RDC016	Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset	22
999		DSM006	Desmoplastic Infantile Ganglioglioma	22
1000	P	SPN236	Spina Bifida Cystica	22
1001	c	OMP009	Omphalocele, Autosomal	22
1002	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	22
1003	c	PRR026	Perrault Syndrome 5	22
1004	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	22
1005	c	MCL071	Macular Dystrophy, Patterned, 2	22
1006		ATR018	Atrial Septal Defect Ostium Primum	22
1007		HSB001	His Bundle Tachycardia	22
1008		CLC064	Calcifying Aponeurotic Fibroma	22
1009		SNK001	Snakebite Envenomation	22
1010		DMD001	Demodicidosis	22
1011		EPD027	Epidermolysa Bullosa Simplex with Muscular Dystrophy	22
1012		NNT021	Neonatal Meningitis	22
1013		CHR610	Chromosome 10q22.3-Q23.2 Deletion Syndrome	22
1014	c	PRC046	Precocious Puberty, Central, 2	22
1015		HVY002	Heavy Metal Poisoning	22
1016		SDD004	Sudden Arrhythmia Death Syndrome	22
1017		NPH027	Nipah Virus Encephalitis	22
1018		CNG357	Congenital Symblepharon	22
1019	P	RDC012	Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset	22
1020		2Q3005	2q31.1 Microdeletion Syndrome	22
1021	c	ATR064	Atrioventricular Septal Defect 3	22
1022	c	RTN192	Retinitis Pigmentosa 77	22
1023	P	MCL058	Macular Degeneration, Early-Onset	22
1024		INT093	Interferon Gamma, Receptor 1, Deficiency	22
1025		CNG113	Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency	22
1026		NWN001	New-Onset Refractory Status Epilepticus	22
1027	P	HYD015	Hydroa Vacciniforme	22
1028		TTR021	Tetrasomy 21	22
1029	c	NRC017	Narcolepsy 7	22
1030		HYP696	Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome	22
1031	P	RTN220	Retinal Ciliopathy	22
1032		UND004	Undetermined Colitis	22
1033		SRP002	Serpiginous Choroiditis	22
1034		ERY023	Erythroplakia	22
1035	c	DYS175	Dystonia 26, Myoclonic	22
1036		FWL003	Fowler Urethral Sphincter Dysfunction Syndrome	22
1037		PSD050	Pseudoxanthoma Elasticum, Forme Fruste	22
1038	c	CLR107	Ciliary Dyskinesia, Primary, 24	22
1039		CHR241	Chromosome 2q24 Microdeletion Syndrome	22
1040		PRG116	Progressive Supranuclear Palsy-Corticobasal Syndrome	22
1041	c	TRN047	Transient Congenital Hypothyroidism	22
1042	c	ACT229	Acute Necrotizing Encephalopathy Type 1	22
1043	c	FRM002	Form Agnosia	22
1044		6QT002	6q Terminal Deletion Syndrome	22
1045	c	CHR059	Chronic Endophthalmitis	22
1046	c	CFF015	Coffin-Siris Syndrome 10	22
1047	P	MYM016	Moyamoya Angiopathy	22
1048		RTN072	Retinohepatoendocrinologic Syndrome	22
1049	c	PSR030	Psoriasis 8	22
1050		DPS001	Dipsogenic Diabetes Insipidus	22
1051	c	CNG100	Congenital Herpes Simplex	22
1052		CYN003	Cyanide Poisoning	22
1053		8PN001	8p Inverted Duplication/deletion Syndrome	22
1054		FND006	Fundus Dystrophy, Pseudoinflammatory, Recessive Form	22
1055		XLN076	X-Linked Cerebellar Ataxia	21
1056		AND005	Androgen Insensitivity Syndrome, Mild	21
1057		HML018	Homologous Wasting Disease	21
1058		XLN170	X-Linked Mendelian Susceptibility to Mycobacterial Diseases	21
1059		CHR208	Chromosome 17p Deletion	21
1060		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	21
1061	c	AGM017	Agammaglobulinemia 8, Autosomal Dominant	21
1062		RDL022	Radial Hemimelia	21
1063	c	PNT052	Pontocerebellar Hypoplasia, Type 12	21
1064	c	ATM050	Autoimmune Thyroid Disease 3	21
1065		CHR159	Charlie M Syndrome	21
1066		PSY017	Psychogenic Movement Disorders	21
1067	c	ATS369	Autism 8	21
1068		CHR483	Chromosome 3q13.31 Deletion Syndrome	21
1069	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	21
1070	c	TYP033	Type 1 Diabetes Mellitus 7	21
1071		JMP002	Jumping Frenchmen of Maine	21
1072	c	NCL011	Nuclear Gene-Encoded Leigh Syndrome Spectrum	21
1073		PRG110	Progressive Encephalomyelitis with Rigidity and Myoclonus	21
1074		CNG117	Congenital Nonhemolytic Jaundice	21
1075		BNT001	Banti's Syndrome	21
1076	c	TYP032	Type 1 Diabetes Mellitus 6	21
1077	c	SBC010	Subacute Glomerulonephritis	21
1078		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	21
1079		XLN236	X-Linked Intellectual Disability-Epilepsy Syndrome	21
1080	c	EFM001	Efemp2-Related Cutis Laxa	21
1081	c	CRB168	Cerebroretinal Microangiopathy with Calcifications and Cysts 2	21
1082		PSD043	Pseudopelade of Brocq	21
1083	c	EPL137	Epilepsy, Childhood Absence 6	21
1084	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	21
1085		SYM024	Symphalangism, Distal	21
1086		HMH003	Hemihyperplasia-Multiple Lipomatosis Syndrome	21
1087		ADN085	Adenylate Kinase Deficiency, Hemolytic Anemia Due to	21
1088		SPN133	Spondyloepimetaphyseal Dysplasia with Multiple Dislocations	21
1089	P	FML337	Familial Chilblain Lupus	21
1090	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	21
1091	c	CLR088	Ciliary Dyskinesia, Primary, 21	21
1092		HMP027	Hemiparkinsonism-Hemiatrophy Syndrome	21
1093		SPS087	Spasmus Nutans	21
1094	c	TYP049	Type 2 Diabetes Mellitus 2	21
1095	c	SCN048	Secondary Syringomyelia	21
1096	c	SYS038	Systemic Lupus Erythematosus 2	21
1097	c	TRM016	Tremor, Hereditary Essential, 3	21
1098		PHK008	Phakomatosis Cesioflammea	20
1099		ATM106	Autoimmune Hemolytic Anemia, Cold Type	20
1100		ORB019	Orbital Margin, Hypoplasia of	20
1101		PLS037	Plasma Cell Tumor	20
1102		DYS038	Dysgnathia Complex	20
1103		GLC025	Galactorrhoea-Hyperprolactinaemia	20
1104		PRM187	Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	20
1105	P	PTT054	Patterned Macular Dystrophy	20
1106		ACR107	Acrofacial Dysostosis, Palagonia Type	20
1107		LKN005	Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema	20
1108	P	SYN140	Syndrome with 46,xy Disorder of Sex Development	20
1109	c	SVR107	Severe Congenital Neutropenia 3	20
1110		GRD004	Gardner-Diamond Syndrome	20
1111		MRC009	Mercaptolactate-Cysteine Disulfiduria	20
1112		CRT061	Cor Triatriatum Dexter	20
1113		PST047	Post-Traumatic Epilepsy	20
1114		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	20
1115	c	SPN403	Spinocerebellar Ataxia, X-Linked 2	20
1116		CGT001	Ciguatera Fish Poisoning	20
1117	c	INF080	Inflammatory Bowel Disease 21	20
1118		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	20
1119		ACT239	Acetyl-Coa Acetyltransferase-2 Deficiency	20
1120	c	SPS171	Spastic Ataxia 5	20
1121		NDD001	Nodding Syndrome	20
1122	c	AGM024	Agammaglobulinemia 5, Autosomal Dominant	20
1123		PTY005	Pityriasis Lichenoides Chronica	20
1124	c	HYP573	Hypotrichosis 5	20
1125	c	PRD023	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2	20
1126		VBR003	Vibrio Vulnificus Infection	20
1127	c	ZMM004	Zimmermann-Laband Syndrome 3	20
1128		MYC016	Mycobacterium Gordonae	20
1129		BRR004	Baroreflex Failure	20
1130		ART154	Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development	20
1131	c	FBR079	Fibromatosis, Gingival, 2	20
1132	c	CLR124	Ciliary Dyskinesia, Primary, 34	20
1133		ATH012	Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease	20
1134	c	ATS474	Autism 20	20
1135		SYN120	Syndromic Oculocutaneous Albinism	20
1136		NND001	Nondystrophic Myotonia	20
1137		DST037	Distal Monosomy 9p	20
1138		PSD084	Pseudo-Meigs Syndrome	20
1139	c	SVR103	Severe Congenital Neutropenia 1	20
1140	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	20
1141	c	MSC139	Mosaic Variegated Aneuploidy Syndrome 3	20
1142		MNC020	Monoclonal Mast Cell Activation Syndrome	20
1143	c	MYP141	Myopia 5, Autosomal Dominant	20
1144	c	CLL018	Collagen Type Vi-Related Disorders	20
1145		OCL071	Oculocerebral Hypopigmentation Syndrome of Preus	20
1146		ANT065	Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis	20
1147		PLY135	Polydactyly, Postaxial, with Progressive Myopia	20
1148	c	DWL004	Dowling-Degos Disease 4	20
1149		ALP088	Alpha-Fetoprotein, Hereditary Persistence of	20
1150		DST059	Distal Trisomy 17q	20
1151		DRG014	Drug-Induced Autoimmune Hemolytic Anemia	20
1152	c	RNG021	Ring Chromosome 5	20
1153	c	KLP006	Klippel-Feil Syndrome 3, Autosomal Dominant	20
1154		PNH004	Panhypophysitis	20
1155		PRG077	Progressive Nodular Histiocytosis	20
1156	c	PNM004	Pneumoconiosis Due to Talc	20
1157	c	RTN214	Retinitis Pigmentosa 81	20
1158		NWD001	New Daily-Persistent Headache	20
1159		PRD026	Pre-Descemet Corneal Dystrophy	20
1160		BNG086	Bangstad Syndrome	20
1161	c	SPR049	Supranuclear Palsy, Progressive, 2	19
1162		BRC046	Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia	19
1163		NNF008	Non-Functioning Paraganglioma	19
1164		SPN092	Spinal Shock	19
1165		19P001	19p13.12 Microdeletion Syndrome	19
1166	c	PRV016	Periventricular Nodular Heterotopia 6	19
1167	c	HYP832	Hypotrichosis 14	19
1168		QLT002	Qualitative or Quantitative Defects of Dystrophin	19
1169	c	RNG012	Ring Chromosome 17	19
1170		CHR612	Chromosome 15q14 Deletion Syndrome	19
1171		ODN020	Odontoma-Dysphagia Syndrome	19
1172		RTN037	Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma	19
1173	c	ERY016	Erythropoietic Protoporphyria, Autosomal Recessive	19
1174	c	SLV030	Silver-Russell Syndrome 4	19
1175	P	CNG515	Congenital Zika Syndrome	19
1176	c	ORF050	Orofacial Cleft 2	19
1177	c	FCL030	Facial Paresis, Hereditary Congenital, 1	19
1178		FCC003	Faciocardiomelic Dysplasia, Lethal	19
1179	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	19
1180	c	STC011	Stickler Syndrome, Type V	19
1181	c	LFT020	Left Ventricular Noncompaction 7	19
1182		MYP060	Myopic Macular Degeneration	19
1183		DST011	Distal Chromosome 18q Deletion Syndrome	19
1184	c	PRM292	Premature Ovarian Failure 14	19
1185	c	PRM253	Premature Ovarian Failure 13	19
1186	P	SPN237	Spina Bifida Aperta	19
1187		HYD031	Hydroxyprolinemia	19
1188		DST036	Distal Trisomy 15q	19
1189	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	19
1190		MCR330	Microphthalmia, Isolated, with Cataract 1	19
1191	P	CTS012	Cutis Verticis Gyrata	19
1192		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	19
1193	c	SPR070	Sporadic Infantile Bilateral Striatal Necrosis	19
1194		MTC033	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form	19
1195		JNT004	Joint Laxity, Short Stature, and Myopia	19
1196	c	HYP578	Hypotrichosis 12	19
1197		IGG015	Igg4-Related Thyroid Disease	19
1198		LMB009	Lambdoid Synostosis	19
1199		HYD050	Hydrocephalus, Endocardial Fibroelastosis, and Cataracts	19
1200		MYC021	Mycobacterium Xenopi	19
1201	c	ART168	Arthrogryposis, Distal, Type 1c	19
1202	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	19
1203	c	DMN040	Diamond-Blackfan Anemia 16	19
1204		VGN031	Vaginal Atresia	19
1205		RTN185	Retinal Dysplasia, Primary	19
1206		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	19
1207		ART056	Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay	19
1208	c	STS009	Sotos Syndrome 3	19
1209		VLV046	Vulvovaginal Gingival Syndrome	19
1210		BLP011	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	19
1211	c	INF079	Inflammatory Bowel Disease 20	19
1212		EXT061	Extracardiac Rhabdomyoma	19
1213		OTP003	Oto-Palatal-Digital Syndrome	19
1214	c	CHR465	Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity	19
1215		CHL084	Cholesterol Pneumonia	19
1216		DSS012	Disseminated Infection with Mycobacterium Avium Complex	19
1217		HMF007	Hemifacial Hyperplasia with Strabismus	19
1218	c	INF084	Inflammatory Bowel Disease 26	19
1219	c	INF081	Inflammatory Bowel Disease 22	18
1220		IDP067	Idiopathic Hemiconvulsion-Hemiplegia Syndrome	18
1221	c	ECT114	Ectodermal Dysplasia 10b	18
1222		CYT006	Cytoplasmic Body Myopathy	18
1223	c	NNN032	Non-Infectious Posterior Uveitis	18
1224		LNR010	Linear Lichen Planus	18
1225		CRY024	Crystal Arthropathies	18
1226		PYT001	Pythiosis	18
1227		SBR012	Subaortic Stenosis, Membranous	18
1228		STC008	Stocco Dos Santos Syndrome	18
1229	c	EPL009	Epilepsy Progressive Myoclonic Type 3	18
1230		STN005	St Anthony's Fire	18
1231	c	BRN073	Branchiootic Syndrome 2	18
1232	P	RFR014	Refractory Anemia with Excess Blasts Type 2	18
1233		MCR311	Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome	18
1234		HRP026	Herpetiform Pemphigus	18
1235		PRX013	Proximal Chromosome 18q Deletion Syndrome	18
1236	c	OCL081	Oculocutaneous Albinism, Type Viii	18
1237	c	SPN401	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	18
1238		AML012	Ameloonychohypohidrotic Syndrome	18
1239		LYS028	Lysosomal Glycogen Storage Disease	18
1240		CYT017	Cytophagic Histiocytic Panniculitis	18
1241		GRW021	Growing Teratoma Syndrome	18
1242		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	18
1243		PSD079	Pseudoangiomatous Stromal Hyperplasia	18
1244		BNG081	Benign Childhood Occipital Epilepsy, Panayiotopoulos Type	18
1245		LJN002	Lujan Syndrome	18
1246		KRT077	Keratinopathic Ichthyosis	18
1247	c	ANR046	Aniridia 3	18
1248		ALP072	Alpha-Fetoprotein Deficiency	18
1249		FRN028	Furunculous Myiasis	18
1250		CTR009	Cataract Congenital Dominant Non Nuclear	18
1251		IQS001	Iqsec2	18
1252	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	18
1253		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	18
1254	c	CLR141	Ciliary Dyskinesia, Primary, 41	18
1255		FRY007	Fryns Macrocephaly	18
1256	c	HYD070	Hydrocephalus, Congenital Communicating, 1	18
1257	c	HYD067	Hydatidiform Mole, Recurrent, 3	18
1258	P	QLT041	Qualitative or Quantitative Defects of Alpha-Dystroglycan	18
1259		DYS134	Dysspondyloenchondromatosis	18
1260		5Q1001	5q14.3 Microdeletion Syndrome	18
1261	c	KRT053	Keratoconus 7	18
1262	c	ANG053	Angelman Syndrome Due to Maternal 15q11q13 Deletion	18
1263		CCC003	Coccygodynia	18
1264		MTH068	Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect	18
1265		EPG004	Epignathus	18
1266		BRZ001	Brazilian Hemorrhagic Fever	18
1267		MDS024	Mediastinal Endodermal Sinus Tumors	18
1268	c	PRM188	Primary Cutis Verticis Gyrata	18
1269		IDP047	Idiopathic Panuveitis	18
1270		17Q009	17q12 Recurrent Deletion Syndrome	18
1271		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	18
1272		MSC019	Mosaic Trisomy 7	18
1273		ICH025	Ichthyosis, Follicular	18
1274		KRT065	Keratosis Follicularis, Dwarfism, and Cerebral Atrophy	18
1275		TLN013	Telangiectasia Macularis Eruptive Perstans	18
1276	c	SYS046	Systemic Lupus Erythematosus 3	18
1277	c	OTS007	Otosclerosis 3	18
1278		SYM006	Symmetrical Thalamic Calcifications	18
1279		AMB005	Amoebiasis Due to Free-Living Amoebae	18
1280		ISL155	Isolated Anencephaly	18
1281	P	WHS002	Whistling Face Syndrome, Recessive Form	18
1282		BRC094	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	18
1283		MTH011	Methionine Adenosyltransferase Deficiency	18
1284		GLM036	Gliomatosis Peritonei	18
1285		PLY133	Polysyndactyly with Cardiac Malformation	18
1286		GTP002	Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia	18
1287		ORM001	Oro-Mandibular-Limb Hypogenesis Syndrome	18
1288		SND006	Sonoda Syndrome	17
1289		LRG010	L-Arginine:glycine Amidinotransferase Deficiency	17
1290		RDR002	Rodrigues Blindness	17
1291	c	PLY178	Polydactyly, Postaxial, Type A8	17
1292	c	JVN046	Juvenile Polymyositis	17
1293		5Q3001	5q35 Microduplication Syndrome	17
1294		PTR029	Pterygium, Antecubital	17
1295		PRP107	Peripheral Hypothyroidism	17
1296		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	17
1297		QLT009	Qualitative or Quantitative Defects of Caveolin-3	17
1298		HMR013	Hemorrhagic Proctocolitis	17
1299		PNT023	Pontine Hemorrhage	17
1300		16P003	16p13.11 Microdeletion Syndrome	17
1301		SPR064	Supernumerary Breasts	17
1302		CRB203	Caribbean Parkinsonism	17
1303	c	KRT050	Keratoconus 5	17
1304		HMR016	Humeroradioulnar Synostosis	17
1305		SPN113	Spinocerebellar Ataxia with Dysmorphism	17
1306		EGL001	Eagle Syndrome	17
1307		CNG284	Congenital Pseudoarthrosis of the Tibia	17
1308	c	DPH025	Diaphragmatic Hernia 2	17
1309		CXR001	Coxoauricular Syndrome	17
1310		PLY088	Polyvalvular Heart Disease Syndrome	17
1311		GLC039	Glucosephosphate Isomerase Deficiency	17
1312		DBL010	Double-Orifice Mitral Valve	17
1313		BRC116	Brachial Amelia, Cleft Lip, and Holoprosencephaly	17
1314	c	CHR692	Chronic Encephalitis	17
1315		PLZ007	Pelizaeus-Merzbacher Disease, Classic Form	17
1316		MLT131	Multifocal Atrial Tachycardia	17
1317	c	SPS170	Spastic Ataxia 2	17
1318		CNT088	Central Cloudy Dystrophy of Francois	17
1319	P	NCL007	Nuclear Gene-Encoded Leigh Syndrome	17
1320		CNG108	Congenital Mitral Stenosis	17
1321		MTT004	Metatarsus Adductus	17
1322	c	INF152	Infectious Posterior Uveitis	17
1323		THR084	Thoracolumbosacral Spina Bifida Cystica	17
1324	c	TTL008	Total Spina Bifida Cystica	17
1325		THR085	Thoracolumbosacral Spina Bifida Aperta	17
1326	c	MYP133	Myopia 18, Autosomal Recessive	17
1327	c	CHR686	Chronic Cutaneous Lupus Erythematosus	17
1328		EXT063	Extrapelvic Endometriosis	17
1329		RMT001	Remitting Seronegative Symmetrical Synovitis with Pitting Edema	17
1330		CRN287	Carnitine Deficiency, Myopathic	17
1331		3Q2006	3q27.3 Microdeletion Syndrome	17
1332	c	MTR063	Maternal Uniparental Disomy of Chromosome 2	17
1333		PPL053	Papillomatosis, Florid, of Nipple	17
1334		IGG009	Igg4-Related Ophthalmic Disease	17
1335		ITC001	Itch E3 Ubiquitin Ligase Deficiency	17
1336	c	SCL049	Scoliosis, Isolated 3	17
1337		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	17
1338		OPH015	Ophn1 Syndrome	17
1339		STP007	Staphylococcal Scarlet Fever	16
1340		GND012	Gonadal Dysgenesis, Xy Type, with Associated Anomalies	16
1341		AMY010	Amyloidosis Beta2m	16
1342	c	ATS177	Autism X-Linked 5	16
1343	c	MYP041	Myopia 8	16
1344		RTF001	Retiform Hemangioendothelioma	16
1345		CLT002	Cluttering	16
1346		20Q003	20q11.2 Microdeletion Syndrome	16
1347		MDL024	Madelung Deformity	16
1348		1QD001	1q Duplications	16
1349		XLN215	X-Linked Congenital Generalized Hypertrichosis	16
1350		BRH001	Boerhaave Syndrome	16
1351		SMC003	Semicircular Canal Dehiscence Syndrome	16
1352		CRN192	Craniorhiny	16
1353		PRS110	Persistent Placoid Maculopathy	16
1354		MSC079	Mosaic Trisomy 1	16
1355		KSH003	Kshv Inflammatory Cytokine Syndrome	16
1356		DYT003	Dyt-Gnal	16
1357		ACT231	Acute Flaccid Myelitis	16
1358	c	PLY103	Polydactyly, Postaxial, Type A5	16
1359		EMR002	Emerinopathy	16
1360		EPB002	Epiblepharon	16
1361		SCL051	Scalp Defects and Postaxial Polydactyly	16
1362		MLT155	Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	16
1363		CTN020	Cutaneous Sclerosis	16
1364		CLS032	Clostridium Perfringens Infection	16
1365	c	ALP040	Alopecia Areata 2	16
1366		ATY025	Atypical Glycine Encephalopathy	16
1367		SLT007	Solitary Rectal Ulcer Syndrome	16
1368		GMB001	Gombo Syndrome	16
1369		49X005	49, Xxxyy Syndrome	16
1370		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	16
1371		LMB071	Lambotte Syndrome	16
1372	c	SPS028	Spastic Paraplegia 18	16
1373		PRM367	Primary Localized Cutaneous Nodular Amyloidosis	16
1374		TYP044	Type 1 Interferonopathy	16
1375		CGH002	Cough Headache	16
1376		MYS028	Myospherulosis	16
1377	c	CNG596	Congenital Ectropion	16
1378		ANL019	Anal Sphincter Dysplasia	16
1379		ALN006	Alien Hand Syndrome	16
1380	c	SYS051	Systemic Lupus Erythematosus 4	16
1381		HPS001	Hip Subluxation	16
1382		GLC088	Glaucoma and Sleep Apnea	16
1383		PRP069	Purpura Simplex	16
1384	c	PST093	Posterior Hypospadias	16
1385		ART091	Aorto-Ventricular Tunnel	16
1386		RDC003	Red Cell Phospholipid Defect with Hemolysis	16
1387		LWF001	Low-Flow Priapism	16
1388	c	OTS012	Otosclerosis 10	16
1389		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
1390		MRF018	Marfanoid Habitus with Microcephaly and Glomerulonephritis	16
1391		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	16
1392		CTN034	Cutaneous Myiasis	16
1393	c	PLY101	Polydactyly, Postaxial, Type A6	16
1394		ERL037	Early-Onset Lamellar Cataract	16
1395	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	16
1396		MCR300	Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	16
1397	c	CHR180	Chromosome 10, Uniparental Disomy	16
1398		EXT050	Extraneural Perineurioma	16
1399		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	16
1400		GLY085	Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency	16
1401		HYP727	Hypoglossia with Situs Inversus	16
1402		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	16
1403		LTH036	Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome	16
1404		CMM018	Common Mesentery	16
1405	c	ATS454	Autosomal Trisomy	16
1406		ALB022	Albinism-Microcephaly-Digital Anomalies Syndrome	16
1407		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	16
1408		APD001	Apo a-I Deficiency	16
1409		THM025	Thumbs, Congenital Clasped	16
1410		ACT170	Acute Ackee Fruit Intoxication	15
1411		8P1001	8p11.2 Deletion Syndrome	15
1412		LKT001	Leukotriene C4 Synthase Deficiency	15
1413		THN005	Thunderclap Headache	15
1414	c	MYP143	Myopia 11, Autosomal Dominant	15
1415		ZNC005	Zinc-Responsive Necrolytic Acral Erythema	15
1416	c	ALP036	Alopecia, Androgenetic, 2	15
1417	c	MCL026	Macular Dystrophy, Retinal, 3	15
1418	c	HYP551	Hypotrichosis 9	15
1419		6Q1002	6q16 Microdeletion Syndrome	15
1420		BRC100	Brachydactyly, Combined B and E Types	15
1421		CRV046	Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction	15
1422	c	FCL050	Facial Paresis, Hereditary Congenital, 2	15
1423		RDT004	Radiation Induced Brachial Plexopathy	15
1424		IRS009	Iris Hypoplasia with Glaucoma	15
1425		MLT154	Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type	15
1426	c	OTS010	Otosclerosis 7	15
1427		ANT040	Anton's Syndrome	15
1428		MCR340	Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate	15
1429		MSM003	Mesomelia	15
1430		XP2001	Xp22.3 Microdeletion Syndrome	15
1431	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	15
1432		LTH004	Lathyrism	15
1433		TRS010	Trisomy 17 Mosaicism	15
1434		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	15
1435		XLN133	X-Linked Intellectual Disability, Shashi Type	15
1436	c	FBR077	Fibromatosis, Gingival, 3	15
1437	c	FBR080	Fibromatosis, Gingival, 4	15
1438		CRY029	Cryptomicrotia-Brachydactyly Syndrome	15
1439	c	HYP544	Hypotrichosis 10	15
1440		ETN003	Eating Reflex Epilepsy	15
1441		ECT023	Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	15
1442	c	TBB006	Tubb4a-Related Leukodystrophy	15
1443		SYR004	Syringobulbia	15
1444		VNT036	Ventilator-Induced Diaphragmatic Dysfunction	15
1445		TRP027	Triphalangeal Thumb, Nonopposable	15
1446		WYR003	Weyers Ulnar Ray/oligodactyly Syndrome	15
1447		DST038	Distal Monosomy 7q36	15
1448		ITR003	Iatrogenic Creutzfeldt-Jakob Disease	15
1449		SHN001	Shone Complex	15
1450	c	NGL006	Ngly1-Related Congenital Disorder of Deglycosylation	15
1451		20P001	20p12.3 Microdeletion Syndrome	15
1452		CHR199	Chromosome 15q Duplication	15
1453		9P1001	9p13 Microdeletion Syndrome	15
1454		PPL027	Papular Urticaria	15
1455		VCT002	Vacterl Association with Hydrocephaly, X-Linked	15
1456		ARC024	Aurocephalosyndactyly	15
1457	c	UNP011	Uniparental Disomy of Chromosome 14	15
1458		DST035	Distal Trisomy 18q	15
1459		CHR184	Chromosome 10q Duplication	15
1460		ANN014	Annular Lichen Planus	15
1461		JVN060	Juvenile Idiopathic Inflammatory Myopathy	15
1462		EPL161	Epilepsy, Reading	15
1463		FNG010	Fingerprint Body Myopathy	15
1464	c	FRM005	Frmd7-Related Infantile Nystagmus	15
1465		TRP010	Treponema Infection	15
1466		PRS132	Parasomnia, Sleep Bruxism Type	15
1467	c	ANR050	Aneurysm, Intracranial Berry, 12	15
1468		CRD014	Cardiac Diverticulum	15
1469		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	15
1470	c	ISC010	Isochromosome Yp	15
1471		CNG120	Congenital Pseudoarthrosis	15
1472		ODN008	Odontomicronychial Dysplasia	15
1473		JCK003	Jackhammer Esophagus	15
1474		ISL118	Isolated Tracheoesophageal Fistula	15
1475	c	TYP050	Type 2 Diabetes Mellitus 3	15
1476		CHR220	Chromosome 1p Deletion	15
1477		ACH040	Achoo Syndrome	15
1478	c	GLC076	Glaucoma 1, Open Angle, H	15
1479		CTT001	Catatrichy	15
1480		LNG102	Long-Thumb Brachydactyly Syndrome	15
1481	c	PLY163	Polydactyly, Postaxial, Type A2	15
1482	c	RST016	Restless Legs Syndrome 7	15
1483		CTN018	Cutaneous Photosensitivity and Colitis, Lethal	15
1484	c	OTS011	Otosclerosis 8	15
1485	c	PTS010	Ptosis, Hereditary Congenital 2	14
1486		ISD002	Isodicentric Chromosome 15 Syndrome	14
1487		DYS053	Dystelephalangy	14
1488	c	UNP012	Uniparental Disomy of Chromosome 7	14
1489		MRG007	Morgellons	14
1490		NSP010	Nasopharyngeal Teratoma	14
1491		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	14
1492		MTR086	Motor Stereotypies	14
1493	c	GLC048	Glaucoma 1, Open Angle, I	14
1494		KNS003	Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis	14
1495		MXL011	Maxillofacial Dysostosis	14
1496	c	CSK002	Cask-Related Intellectual Disability	14
1497		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	14
1498		ISL072	Isolated Levocardia	14
1499		CHR264	Chromosome 8p Deletion	14
1500		14Q005	14q24.1q24.3 Microdeletion Syndrome	14
1501		CRT056	Carotidynia	14
1502		SCN063	Scn2a Related Disorders	14
1503		CHR257	Chromosome 6q Deletion	14
1504		DBL009	Double Inferior Vena Cava	14
1505	c	GRV009	Graves Disease 2	14
1506	c	ESP034	Esophagitis, Eosinophilic, 2	14
1507		CHR240	Chromosome 2q Duplication	14
1508		INT102	Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity	14
1509	c	HNT014	Huntington Disease-Like Syndrome Due to C9orf72 Expansions	14
1510	P	NNN030	Non-Infectious Anterior Uveitis	14
1511		ESP040	Esophageal Duplication Cyst	14
1512		VNB001	Van Benthem-Driessen-Hanveld Syndrome	14
1513		MDM005	Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	14
1514		DST055	Distal 22q11.2 Microduplication Syndrome	14
1515		GRN042	Granulomatous Lobular Mastitis	14
1516		GRN020	Granulomatous Hypophysitis	14
1517		GRN021	Granulomatous Rosacea	14
1518	c	MTR060	Maternal Uniparental Disomy of Chromosome 9	14
1519		ANR045	Aneurysm of Interventricular Septum	14
1520		MGP001	Megaepiphyseal Dwarfism	14
1521		CNG529	Congenital Femoral Deficiency	14
1522		APV001	Aapoaiv Amyloidosis	14
1523		MDL016	Midline Cervical Cleft	14
1524		ASR001	Asrar Facharzt Haque Syndrome	14
1525	c	SYS047	Systemic Lupus Erythematosus 7	14
1526		LGR001	Laugier-Hunziker Syndrome	14
1527		SPN357	Spondyloepimetaphyseal Dysplasia, Micromelic	14
1528		DSM005	Desmoplastic Infantile Astrocytoma	14
1529		PRG036	Progressive Transformation of Germinal Centers	14
1530		CHR272	Chromosome 9q Duplication	14
1531	c	ADL074	Adult-Onset Distal Myopathy Due to Vcp Mutation	14
1532		CHR250	Chromosome 4q Duplication	14
1533		BDR001	Bidirectional Tachycardia	14
1534		WHB001	Wahab Syndrome	14
1535		PDT046	Pediatric-Onset Graves Disease	14
1536		ISL134	Isolated Craniosynostosis	14
1537		CHR238	Chromosome 2p Duplication	14
1538		CLF033	Cleft Mitral Valve	14
1539		MCR186	Microtriplication 11q24.1	14
1540		PHR010	Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome	14
1541		GST058	Gestational Diabetes Insipidus	14
1542		CHR256	Chromosome 6p Duplication	14
1543		NCT004	N Acetyltransferase Deficiency	14
1544		MYL019	Myeloid Splenomegaly	14
1545		NNH006	Non-Herpetic Acute Limbic Encephalitis	14
1546		GLC031	Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome	14
1547		ACR022	Acardia	14
1548	c	PRK095	Porokeratosis 4, Disseminated Superficial Actinic Type	14
1549		CHR170	Choroid Plexus Cyst	14
1550	c	MTH069	Methylmalonic Acidemia Due to Transcobalamin Receptor Defect	14
1551		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1552	c	NNP008	Nanophthalmos 3	14
1553		CHR244	Chromosome 3p Duplication	14
1554		6P2001	6p22 Microdeletion Syndrome	14
1555	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	14
1556		PMP003	Pemphigus and Fogo Selvagem	14
1557		ANN013	Annular Atrophic Lichen Planus	14
1558		EXG001	Exogenous Ochronosis	14
1559		CHR181	Chromosome 10p Deletion	14
1560		RCT024	Reactive Angioendotheliomatosis	14
1561		CNG400	Congenital Hereditary Endothelial Dystrophy Type I	14
1562		PRX095	Proximal Myopathy with Focal Depletion of Mitochondria	14
1563		PRP033	Properdin Deficiency	14
1564		BRD027	Braddock Jones Superneau Syndrome	14
1565	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	14
1566		10Q002	10q22.3q23.3 Microduplication Syndrome	13
1567		ISL128	Isolated Microspherophakia	13
1568	c	PST110	Posterior Corneal Dystrophy	13
1569		XLN187	X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	13
1570	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	13
1571		GLM046	Glomus Vagale Tumor	13
1572		ATS112	Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity	13
1573		EPL095	Epilepsy with Myoclonic Absences	13
1574		CMB094	Combined Dystonia	13
1575		STR070	Startle Epilepsy	13
1576		TLN004	Talonavicular Coalition	13
1577		UNC008	Unclassified Myelodysplastic Syndrome	13
1578	c	ELN001	Elane-Related Neutropenia	13
1579		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	13
1580		CHR263	Chromosome 7q Duplication	13
1581	c	KCN020	Kcnt1-Related Epilepsy	13
1582		CRN039	Carnitine Acetyltransferase Deficiency	13
1583		PRM238	Primary Intralymphatic Angioendothelioma	13
1584		CHR261	Chromosome 7p Duplication	13
1585	c	CNG619	Congenital Aplastic Anemia	13
1586		DRT002	Duarte Variant Galactosemia	13
1587		URC013	Urachal Diverticulum	13
1588		MSC015	Mosaic Trisomy 13	13
1589		XYL001	Xylt1-Cdg	13
1590		MYS071	Myasthenia, Limb-Girdle, Autoimmune	13
1591		ORN004	Ornithinemia	13
1592		CHR183	Chromosome 10q Deletion	13
1593		DYS181	Dyssegmental Dysplasia with Glaucoma	13
1594		EXR004	Exertional Headache	13
1595	c	LTH052	Lethal Recessive Chondrodysplasia	13
1596		LNR012	Linear Verrucous Nevus Syndrome	13
1597		SCN061	Scn8a Encephalopathy	13
1598		DGT004	Digitalis Poisoning	13
1599		PRX083	Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	13
1600		ORB018	Orbital Leiomyoma	13
1601		6PH001	6-Phosphogluconate Dehydrogenase Deficiency	13
1602		TRC061	Trichostasis Spinulosa	13
1603		NND003	Non-Distal Trisomy 10q	13
1604		ANN009	Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly	13
1605		PRR018	Preauricular Sinus	13
1606		MSC078	Mosaic Trisomy 17	13
1607		FBR022	Febrile Ulceronecrotic Mucha-Habermann Disease	13
1608		CHR249	Chromosome 4q Deletion	13
1609		PRS111	Persistent Fifth Aortic Arch	13
1610		3LP002	3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency	13
1611		CHR207	Chromosome 16q Duplication	13
1612		CHR192	Chromosome 12q Duplication	13
1613		PLT010	Pili Torti Onychodysplasia	13
1614		ICH018	Ichthyosis Linearis Circumflexa	13
1615		CLS034	Clostridium Septicum Infection	13
1616	c	RST014	Restless Legs Syndrome 3	13
1617	c	WSK003	Wiskott-Aldrich Syndrome, Autosomal Dominant Form	13
1618		LFT005	Left-Sided Gallbladder	13
1619	c	INF151	Infectious Panuveitis	13
1620		BSL013	Basaloid Follicular Hamartoma	13
1621		ATL006	Atlanto-Axial Fusion	13
1622		FRT004	Fourth Branchial Cleft Anomaly	13
1623		HYP176	Hypertelorism and Tetralogy of Fallot	13
1624		PRT206	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9	13
1625		PPL044	Papular Elastorrhexis	13
1626		BLT010	Bilateral Parasagittal Parieto-Occipital Polymicrogyria	13
1627		TBR012	Tuberculous Uveitis	13
1628		CHR196	Chromosome 14q Duplication	13
1629	c	MTC199	Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis	13
1630		GND015	Gonadal Germ Cell Tumor	13
1631		DPL003	Diploid-Triploid Mosaicism	13
1632	c	PRK097	Porokeratosis 5, Disseminated Superficial Actinic Type	13
1633		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	13
1634		HMN034	Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe	13
1635	c	PRG144	Progressive Myoclonus Epilepsy 1b	13
1636	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	13
1637		BNG042	Benign Multicystic Peritoneal Mesothelioma	13
1638		SKD001	Sakoda Complex	13
1639		CHR197	Chromosome 15, Trisomy Mosaicism	13
1640		CHR223	Chromosome 1q Deletion	13
1641		RKT003	Rokitansky-Aschoff Sinuses of the Gallbladder	13
1642	c	ANR022	Aneurysm, Intracranial Berry, 4	13
1643		DBS003	Dibasic Amino Aciduria I	13
1644		11P002	11p15.4 Microduplication Syndrome	13
1645		PHC005	Phacomatosis Pigmentokeratotica	13
1646		CHR254	Chromosome 5q Duplication	13
1647		CHR194	Chromosome 13q Duplication	13
1648		DST052	Distal 7q11.23 Microduplication Syndrome	13
1649		CHR468	Chronic Pneumonitis of Infancy	13
1650		CHS007	Chester Porphyria	13
1651	c	DYS091	Dyschromatosis Universalis Hereditaria 2	13
1652	P	HRD194	Hereditary Geniospasm	13
1653	c	UNP003	Uniparental Disomy of Chromosome 11	13
1654		IDP023	Idiopathic Subglottic Tracheal Stenosis	13
1655	c	DPD002	Depdc5-Related Epilepsy	13
1656	c	ATS460	Autosomal Recessive Congenital Cerebellar Ataxia	13
1657		RCT033	Rectal Duplication	13
1658		CHR214	Chromosome 18q Duplication	13
1659		DST079	Distal Trisomy 5q	13
1660		PRT237	Partial Deletion of the Long Arm of Chromosome 16	13
1661		CHR258	Chromosome 6q Duplication	13
1662		EXS022	Exostosis, Dupuytren Subungual	13
1663	c	ASP034	Asperger Syndrome 4	13
1664		SPN414	Spondylometaphyseal Dysplasia, East African Type	13
1665		LMY006	Leiomyoma of Vulva and Esophagus	13
1666		IDP062	Idiopathic Syringomyelia	13
1667		HLL011	Hall-Riggs Syndrome	13
1668	P	ANT062	Anterior Urethral Valve	12
1669		SVR061	Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	12
1670	c	TRS033	Trisomy 18-Like Syndrome	12
1671	c	OTS009	Otosclerosis 5	12
1672		RCN002	Ricin Poisoning	12
1673	c	CLD017	Cold-Induced Sweating Syndrome 3	12
1674		ACR113	Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma	12
1675		THR034	Thoracopelvic Dysostosis	12
1676		9Q3001	9q31.1q31.3 Microdeletion Syndrome	12
1677		PRP103	Peripapillary Staphyloma	12
1678		ACQ033	Acquired Aneurysmal Subarachnoid Hemorrhage	12
1679		PST104	Postaxial Oligodactyly, Tetramelic	12
1680	c	EPL257	Epilepsy, Progressive Myoclonic, 12	12
1681		MLT168	Multicore Disease	12
1682		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	12
1683		THS001	Thai Symphalangism Syndrome	12
1684		CHR274	Chromosome Xq Duplication	12
1685		PRV008	Parvovirus Antenatal Infection	12
1686		NND005	Non-Distal Trisomy 13q	12
1687	c	HPT084	Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection	12
1688		CHR239	Chromosome 2q Deletion	12
1689		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	12
1690		ATS117	Autosomal Recessive Nail Dysplasia	12
1691		MNN041	Mannose-Binding Lectin Protein Deficiency	12
1692		PST037	Pasteurella Multocida Infection	12
1693		CNG235	Congenital Microgastria	12
1694	c	DYS194	Dysautonomia-Like Disorder	12
1695		RHB019	Rhabdomyosarcoma of the Cervix Uteri	12
1696		MRF015	Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	12
1697		BNG075	Benign Samaritan Congenital Myopathy	12
1698		APR008	Aprosencephaly and Cerebellar Dysgenesis	12
1699		EXT060	Extragonadal Teratoma	12
1700		CNG587	Congenital Limb Malformation	12
1701		CLR130	Ciliary Dyskinesia with Defective Radial Spokes	12
1702		RTN189	Retinal Capillary Malformation	12
1703	c	PPL045	Papular Mucinosis of Infancy	12
1704		PRP068	Propriospinal Myoclonus	12
1705		PCR003	Pauciarticular Onset Juvenile Idiopathic Arthritis	12
1706	c	MTC183	Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies	12
1707		MCL020	Macules Hereditary Congenital Hypopigmented and Hyperpigmented	12
1708		FMR007	Femur Bifid with Monodactylous Ectrodactyly	12
1709		CHR271	Chromosome 9q Deletion	12
1710		INF059	Infundibulopelvic Dysgenesis	12
1711		ANN018	Anonychia, Total, with Microcephaly	12
1712		CLF040	Cleft Lip-Retinopathy Syndrome	12
1713		CHR189	Chromosome 12p Deletion	12
1714		IRF001	Irf6-Related Disorders	12
1715		CYS035	Cystic Adventitial Disease	12
1716	c	RST021	Restless Legs Syndrome 5	12
1717		ALC030	Alect2 Amyloidosis	12
1718		MSC090	Mosaic Trisomy 3	12
1719		HRD193	Hereditary Alpha Tryptasemia Syndrome	12
1720		ATY026	Atypical Meigs Syndrome	12
1721		DYS158	Dystonia-Aphonia Syndrome	12
1722	c	SPS024	Spastic Paraplegia 14	12
1723		RHZ006	Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa	12
1724		KST002	Kuster Syndrome	12
1725	c	SPS165	Spastic Paraplegia 47	12
1726		DST071	Distal Monosomy 19p13.3	12
1727		SRN003	Seronegative Autoimmune Hepatitis	12
1728	c	ANR023	Aneurysm, Intracranial Berry, 7	12
1729	c	ANR030	Aneurysm, Intracranial Berry, 8	12
1730		AMP011	Ampola Syndrome	12
1731		PRL020	Paralysis Agitans, Juvenile, of Hunt	12
1732	c	SCL058	Scoliosis, Isolated 2	12
1733		TRC064	Trochlear Dysplasia	12
1734		FGS003	Fg Syndrome 3	12
1735		ISL033	Isolated Delta-Storage Pool Disease	12
1736		DLY009	Delayed Encephalopathy Due to Carbon Monoxide Poisoning	12
1737		CHR198	Chromosome 15q Deletion	12
1738	c	CCH011	Coach Syndrome 3	12
1739		LWR017	Lower Limb Malformation-Hypospadias Syndrome	12
1740		ONY002	Onychotrichodysplasia and Neutropenia	12
1741		TXN001	Toxin-Mediated Infectious Botulism	12
1742		RNL026	Renal Tubular Acidosis with Deafness	12
1743		TMR022	Tumor of Meninges	12
1744		CMP085	Camptomelic Syndrome, Long-Limb Type	12
1745		PRT180	Partial Deletion of the Long Arm of Chromosome 7	12
1746		RBL002	Rubella Panencephalitis	12
1747		ART097	Aorto-Left Ventricular Tunnel	12
1748		NYS007	Nystagmus, Hereditary Vertical	12
1749		HRR003	Herrmann Opitz Craniosynostosis	12
1750		GNT041	Genetic Lipodystrophy	12
1751		MRV001	Morvan's Fibrillary Chorea	12
1752		HYP663	Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	12
1753		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	11
1754		MDL007	Medial Medullary Syndrome	11
1755	c	INF119	Infantile Mercury Poisoning	11
1756		INT227	Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	11
1757	c	RTN226	Retinal Ciliopathy Due to Mutation in Usher Gene	11
1758		UNL012	Unilateral Hemispheric Polymicrogyria	11
1759		CTR005	Cataract and Congenital Ichthyosis	11
1760		LBR027	Laubry-Pezzi Syndrome	11
1761		TRY006	Tryptophanuria with Dwarfism	11
1762		TYP047	Typhus-Group Rickettsiosis	11
1763		CHR203	Chromosome 16p Duplication	11
1764		GSB001	Gas Bloat Syndrome	11
1765		CHR556	Chromosome 3q Duplication	11
1766		SPR147	Superficial Corneal Dystrophy	11
1767		CHR255	Chromosome 6p Deletion	11
1768		SHR117	Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms	11
1769		CRP016	Creeping Myiasis	11
1770		CRC033	Circumscribed Palmoplantar Hypokeratosis	11
1771		PTT038	Pituitary Deficiency Due to Empty Sella Turcica Syndrome	11
1772	c	QLT007	Qualitative or Quantitative Defects of Delta-Sarcoglycan	11
1773		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	11
1774		ACR080	Acral Persistent Papular Mucinosis	11
1775		CLR026	Ciliary Dyskinesia with Excessively Long Cilia	11
1776		CND035	Cone Dystrophy, X-Linked, with Tapetal-Like Sheen	11
1777		CRN194	Cranial Meningocele	11
1778		GLM017	Glomus Tympanicum Tumor	11
1779		CHR230	Chromosome 20q Deletion	11
1780		BWH001	Bow Hunter's Stroke	11
1781		MDP001	Midphalangeal Hair	11
1782		INF134	Infective Myositis	11
1783	P	CNG595	Congenital Alacrima	11
1784		CHN047	Chondroectodermal Dysplasia with Night Blindness	11
1785		CHR233	Chromosome 21q Deletion	11
1786		CHR195	Chromosome 14q Deletion	11
1787		ACR089	Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia	11
1788		TBC002	Tbc1d24-Related Disorders	11
1789		TRT022	True Thymic Hyperplasia	11
1790		CHR218	Chromosome 19q Duplication	11
1791		HYP485	Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency	11
1792	c	RTN201	Retinoschisis, Autosomal Dominant	11
1793	c	GLC080	Glaucoma 1, Open Angle, N	11
1794		CNG282	Congenital Knee Dislocation	11
1795		FLN005	Folinic Acid-Responsive Seizures	11
1796		SYN124	Syndromic Inherited Retinal Disorder	11
1797		LPC003	Lipoic Acid Synthetase Deficiency	11
1798	c	VSC041	Vesicoureteral Reflux 7	11
1799		CHR206	Chromosome 16q Deletion	11
1800		PDT048	Pediatric-Onset Glaucoma of Genetic Origin	11
1801	c	MLT172	Multiple Metaphyseal Dysplasia	11
1802		CHR458	Chromosome 9 Inversion	11
1803		ADN061	Adenosarcoma of the Cervix Uteri	11
1804		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	11
1805		AML008	Amelogenesis Imperfecta Local Hypoplastic	11
1806		THR122	Thoracic Malformation	11
1807		MSN011	Mesangioproliferative Glomerulopathy	11
1808		IDP036	Idiopathic Bilateral Vestibulopathy	11
1809		VRL018	Virilizing Ovarian Tumor	11
1810		GNT037	Genetic Hyperferritinemia Without Iron Overload	11
1811		RHB007	Rhabdomyomatous Mesenchymal Hamartoma	11
1812	c	ALP037	Alopecia, Androgenetic, 3	11
1813	c	RST019	Restless Legs Syndrome 8	11
1814		PRT200	Partial Duplication of the Long Arm of Chromosome 2	11
1815		CHR210	Chromosome 17q Duplication	11
1816	c	GLM021	Glioma Susceptibility 6	11
1817		CHR221	Chromosome 1p Duplication	11
1818		SVR086	Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	11
1819		NTR048	Neutropenia, Lethal Congenital, with Eosinophilia	11
1820		NCT005	N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii	11
1821		TGV001	Togaviridae Disease	11
1822		ARW003	Airway-Centered Interstitial Fibrosis	11
1823		ANG033	Angiomyomatous Hamartoma	11
1824		RHZ007	Rhizomelic Pseudopolyarthritis	11
1825		FBR026	Fibromatosis Multiple Non Ossifying	11
1826		PRT178	Partial Deletion of the Long Arm of Chromosome 5	11
1827		PLC012	Pleoconial Myopathy with Salt Craving	11
1828	c	SCN055	Secondary Polyarteritis Nodosa	11
1829		GN1001	Gnao1 Encephalopathy	11
1830		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	11
1831		RSR001	Reese Retinal Dysplasia	10
1832		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	10
1833		ACQ011	Acquired Agranulocytosis	10
1834	c	ACQ036	Acquired Angioedema Type 2	10
1835	c	CTR025	Cataract, Total Congenital	10
1836	c	ATM058	Autoimmune Thyroid Disease 4	10
1837		LPC004	Lipoic Acid Biosynthesis Defects	10
1838		PRT215	Partial Duplication of the Short Arm of Chromosome 2	10
1839		MTH081	Mthfr Gene Variant	10
1840	c	QLT013	Qualitative or Quantitative Defects of Beta-Sarcoglycan	10
1841	c	DDN013	Duodenal Ulcer Due to Antral G-Cell Hyperfunction	10
1842	c	ATS154	Autosomal Recessive Complex Spastic Paraplegia	10
1843		DSM014	Desmoplastic Infantile Astrocytoma/ganglioglioma	10
1844		IDP079	Idiopathic Dropped Head Syndrome	10
1845		PTT069	Pituitary Deficiency Due to Rathke Cleft Cysts	10
1846		MYL078	Myelodysplastic Syndrome with Single Lineage Dysplasia	10
1847		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	10
1848		ACT168	Acute Annular Outer Retinopathy	10
1849	c	ACQ070	Acquired Laryngomalacia	10
1850	c	GLM019	Glioma Susceptibility 4	10
1851		CHR235	Chromosome 22q Deletion	10
1852		LVC001	Levic Stefanovic Nikolic Syndrome	10
1853		SYM005	Symmastia	10
1854		HYP668	Hypospadias-Intellectual Disability, Goldblatt Type Syndrome	10
1855		HFT001	Hooft Disease	10
1856		CMP031	Complement Component Deficiency	10
1857	c	INT382	Intermediate Atrioventricular Septal Defect	10
1858		INT396	Internal Carotid Absence	10
1859		CHR260	Chromosome 7p Deletion	10
1860		TRR003	Terrien Marginal Degeneration	10
1861		INC014	Incessant Infant Ventricular Tachycardia	10
1862		LFT022	Left Sided Atrial Isomerism	10
1863	c	SCL059	Scoliosis, Isolated 4	10
1864	c	SCL060	Scoliosis, Isolated 5	10
1865		RDS004	Rud Syndrome	10
1866		PRP108	Paraparetic Variant of Guillain-Barre Syndrome	10
1867		CHR217	Chromosome 19q Deletion	10
1868	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	10
1869		CHR231	Chromosome 20q Duplication	10
1870		INT248	Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	10
1871		CYS023	Cystic Medial Necrosis of Aorta	10
1872		ATY052	Atypical Timothy Syndrome	10
1873		SPL021	Split Hand Split Foot Nystagmus	10
1874		PRT204	Partial Duplication of the Long Arm of Chromosome 4	10
1875		FRM006	Formaldehyde Poisoning	10
1876		CHR228	Chromosome 20p Deletion	10
1877		CHR459	Chromosome Xp Deletion	10
1878		LCT018	Lactobezoar	10
1879		CLR128	Ciliary Discoordination Due to Random Ciliary Orientation	10
1880		TRD004	Taurodontism, Microdontia, and Dens Invaginatus	10
1881		TRC060	Trichoscyphodysplasia	10
1882		CHR186	Chromosome 11p Duplication	10
1883		PRM330	Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly	10
1884		CHR267	Chromosome 8q Deletion	10
1885		CRB080	Cor Biloculare	10
1886		FCL058	Facial Arteriovenous Malformation	10
1887		CD4004	Cd4 Deficiency	10
1888	c	ATS065	Autosomal Dominant Coarctation of Aorta	10
1889		CMP062	Complication After Organ Transplantation	10
1890		HSH001	Hashimoto-Pritzker Syndrome	10
1891		ALP098	Alpha-2-Deficient Collagen Disease	10
1892		CHN026	Chondrodysplasia Calcificans Metaphysealis	10
1893		IGG010	Igg4-Related Aortitis	10
1894		DTR002	Dieterich's Disease	10
1895		PRM302	Paramedian Facial Cleft	10
1896		SLN002	Selenium Poisoning	10
1897		BST005	Bustos Simosa Pinto Cisternas Syndrome	10
1898		ERY018	Erythema Nodosum, Idiopathic	10
1899		ONY006	Onychodystrophy-Anonychia	10
1900		ATY027	Atypical Lichen Myxedematosus	10
1901		HHV002	Hhv-8-Associated Multicentric Castleman Disease	10
1902		DBL015	Double Outlet Right Atrium	10
1903		SPN339	Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	10
1904		ADV004	Adverse Events of 5-Alpha-Reductase Inhibitors	10
1905		CHR234	Chromosome 21q Duplication	10
1906		DST089	Distal Trisomy 3p	10
1907		NNT045	Neonatal Autoimmune Hemolytic Anemia	10
1908		PTT019	Pituitary Dwarfism with Large Sella Turcica	10
1909	c	GLM022	Glioma Susceptibility 8	10
1910		AST008	Asternia	10
1911		PRT164	Partial Deletion of the Short Arm of Chromosome 8	10
1912		DFF017	Diffuse Cavernous Hemangioma of the Rectum	10
1913		CSK001	Cask-Related Disorders	10
1914		PLR014	Pleuro-Pericardial Cyst	10
1915		ANN019	Anonychia-Ectrodactyly	10
1916		RNP002	Renoprival Hypertension	10
1917		MLT158	Multiple Exostoses with Spastic Tetraparesis	9
1918		SNS012	Sinus Node Disease and Myopia	9
1919		CQR001	Coq-Responsive Oxphos Deficiency	9
1920	c	HYP453	Hypertension, Essential 7	9
1921		SMP006	Simple Cryoglobulinemia	9
1922		WND003	Windblown Hand	9
1923		PSD083	Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	9
1924		MYC062	Mycoplasma Encephalitis	9
1925		4P1001	4p16.3 Microduplication Syndrome	9
1926		LPD038	Lipedematous Scalp	9
1927		MCR090	Microspherophakia with Hernia	9
1928		ZSK001	Zuska's Disease	9
1929		FND005	Fundus Pulverulentus	9
1930		CTH001	Cathepsin a-Related Arteriopathy-Strokes-Leukoencephalopathy	9
1931	c	SPR154	Sporadic Human Prion Disease	9
1932		DST081	Distal Trisomy 11q	9
1933	c	PRM185	Primary Essential Cutis Verticis Gyrata	9
1934		CHR185	Chromosome 11p Deletion	9
1935		IDP056	Idiopathic Neonatal Atrial Flutter	9
1936		HRP036	Herpesvirus Simiae B Virus Infection	9
1937		CHR191	Chromosome 12q Deletion	9
1938		CTR030	Citrulline Transport Defect	9
1939		MYL051	Myalgia-Eosinophilia Syndrome Associated with Tryptophan	9
1940	c	TRN078	Transient Antenatal Bartter Syndrome	9
1941		PLY165	Polyosteolysis-Hyperostosis Syndrome	9
1942		PRT160	Partial Deletion of the Short Arm of Chromosome 4	9
1943		PRT187	Partial Duplication of Chromosome X	9
1944		INF139	Infantile Choroidocerebral Calcification Syndrome	9
1945	c	WDR002	Wdr26-Related Intellectual Disability	9
1946		PRT106	Partial Duplication of the Short Arm of Chromosome X	9
1947		TRS009	Trisomy 12 Mosaicism	9
1948		CRT077	Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	9
1949		CHR245	Chromosome 3q Deletion	9
1950	c	KLZ003	Kala-Azar 3	9
1951		AHM001	Ahumada Del Castillo Syndrome	9
1952		RDT003	Radiation Induced Angiosarcoma of the Breast	9
1953		SPL023	Split Hand/foot Malformation X-Linked	9
1954	c	RTN223	Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene	9
1955		AXN006	Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy	9
1956		WHT012	White Fibrous Papulosis of the Neck	9
1957	c	MTR064	Maternal Uniparental Disomy of Chromosome 22	9
1958		MLT117	Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	9
1959		CRD015	Cardiac Hydatid Cysts with Intracavitary Expansion	9
1960		GRN018	Granulomas, Congenital Cerebral	9
1961		CHR237	Chromosome 2p Deletion	9
1962	P	PRM298	Primary Peritoneal Tumor	9
1963	c	UNP009	Uniparental Disomy of Chromosome 20	9
1964		INF175	Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome	9
1965		DST076	Distal Trisomy 13q	9
1966		PRC042	Parachute Tricuspid Valve	9
1967		ACT096	Acute Cholinergic Dysautonomia	9
1968		MSM006	Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type	9
1969		AMN016	Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis	9
1970		BRN058	Brunsting-Perry Syndrome	9
1971		MSC013	Mosaic Monosomy 18	9
1972		PRX078	Preaxial Polydactyly of Fingers	9
1973	P	PRT183	Partial Monosomy of the Long Arm of Chromosome 10	9
1974		DDY001	Didymosis Aplasticosebacea	9
1975		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	9
1976		CNG053	Congenital Amputation	9
1977		CHR287	Chronic Polyradiculoneuritis	9
1978		SRP007	Serpinopathy	9
1979		RHB018	Rhabdomyosarcoma of the Corpus Uteri	9
1980	P	FRN057	Furuncular Myiasis Due to Cordylobia Anthropophaga	9
1981	c	ISC017	Isca2-Related Mitochondrial Disorder	9
1982	P	RCR003	Recurrent Peripheral Facial Palsy	9
1983		BNG092	Benign Infantile Focal Epilepsy with Midline Spikes and Waves During Sleep	9
1984	c	SCN085	Secondary Ectropion	9
1985		CLS033	Clostridium Sordellii Infection	9
1986		CHR216	Chromosome 19p Duplication	9
1987		CRH002	Crohn's Disease of the Esophagus	9
1988	c	AML063	Amelogenesis Imperfecta Type 2a1	9
1989		ACH016	Achard Thiers Syndrome	9
1990		XLN212	X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	9
1991		LKN006	Leukoencephalopathy, Cerebral Calcifications, and Cysts	9
1992		XNT007	Xanthogranulomatous Sialadenitis	9
1993	c	APL027	Aplasia Cutis Congenita of Limbs, Autosomal Recessive	9
1994		MCR055	Microcephaly Nonsyndromal	9
1995		DPH010	Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis	8
1996		GNT022	Giant Mammary Hamartoma	8
1997		OMP003	Omphalomesenteric Cyst	8
1998		PRT228	Partial Duplication of Chromosome 1	8
1999		PCH017	Pachygyria-Intellectual Disability-Epilepsy Syndrome	8
2000	c	LCT020	Lactic Acidosis, Chronic Adult Form	8
2001		NYS008	Nystagmus, Myoclonic	8
2002		CHR460	Chromosome Xq Deletion	8
2003		SHR095	Short Fifth Metacarpals-Insulin Resistance Syndrome	8
2004		ACC010	Accessory Tricuspid Valve Tissue	8
2005	c	ISC013	Isochromosomy Yq	8
2006		BYL003	Baylisascaris Infection	8
2007		ADN079	Adenosine Triphosphatase Deficiency, Anemia Due to	8
2008		PPL055	Pupil, Egg-Shaped	8
2009		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	8
2010		CTR011	Cataract Hutterite Type	8
2011		HM3001	Hemi 3 Syndrome	8
2012		MCR060	Microcephaly with Spastic Quadriplegia	8
2013		TRB003	Trueb Burg Bottani Syndrome	8
2014		URG002	Urogenital Adysplasia	8
2015		PRT197	Partial Duplication of the Long Arm of Chromosome 15	8
2016		PRT203	Partial Duplication of the Long Arm of Chromosome 7	8
2017		DST057	Distal Trisomy 19q	8
2018		FNG013	Fungal Myositis	8
2019		BNG090	Benign Nocturnal Alternating Hemiplegia of Childhood	8
2020	c	PRM317	Primary Qualitative or Quantitative Defects of Alpha-Dystroglycan	8
2021		CNG327	Congenital Epstein-Barr Virus Infection	8
2022	c	MTR065	Maternal Uniparental Disomy of Chromosome 21	8
2023		HMP015	Hemophagocytic Reticulosis	8
2024		GNT152	Genetic Hyperaldosteronism	8
2025		2MT002	2-Methylacetoacetyl Coa Thiolase Deficiency	8
2026		BRN050	Branchial Arch Defects	8
2027		PRT231	Partial Duplication of Chromosome 4	8
2028	c	ISL038	Isolated Focal Cortical Dysplasia Type Ib	8
2029		CNG255	Congenital Temporomandibular Joint Ankylosis	8
2030		CCH007	Cochleovestibular Dysplasia	8
2031		SCR023	Sacral Plexopathy	8
2032		FLV003	Flavimonas Oryzihabitans Infection	8
2033		MLP003	Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type	8
2034		MSC014	Mosaic Monosomy 22	8
2035		MYS066	Myosinopathies	8
2036	c	ACQ056	Acquired Ataxia	8
2037		PRT174	Partial Deletion of the Long Arm of Chromosome 1	8
2038		PRT181	Partial Deletion of the Long Arm of Chromosome 8	8
2039		SLF008	Self-Healing Papular Mucinosis	8
2040	c	SVR104	Severe Congenital Neutropenia 7	8
2041		FTZ005	Fitzsimmons-Guilbert Syndrome	8
2042		MHV001	Mahvash Disease	8
2043		GNT126	Genetic Hypoparathyroidism	8
2044		XLN237	X-Linked Pure Spastic Paraplegia	8
2045		PRT171	Partial Deletion of the Short Arm of Chromosome 18	8
2046		IDP014	Idiopathic Alveolar Hypoventilation Syndrome	8
2047		MCR294	Macrocephaly-Short Stature-Paraplegia Syndrome	8
2048		CHN052	Choanal Atresia, Bilateral	8
2049		STP012	Staphylococcal Toxemia	8
2050		RFS002	Refsum Disease with Increased Pipecolic Acidemia	8
2051		INC032	Inclusion Myopathy	8
2052	c	ACT189	Acute Neonatal Citrullinemia Type I	8
2053		TBF001	Tibio-Fibular Synostosis	8
2054		ESP045	Esophageal Malformation	8
2055		DNS002	Dens in Dente and Palatal Invaginations	8
2056		NVS014	Nevus Mucinosis	8
2057		NBL002	Noble Bass Sherman Syndrome	8
2058		SYS008	Systemic Necrotizing Angitis	8
2059		WRM002	Warman Mulliken Hayward Syndrome	8
2060	P	ANM056	Anomaly of Chromosome 10	8
2061		PRT152	Partial Deletion of Chromosome 10	8
2062		PRT177	Partial Deletion of the Long Arm of Chromosome 4	8
2063		PRT238	Partial Deletion of the Long Arm of Chromosome 17	8
2064		PRT241	Partial Deletion of the Long Arm of Chromosome 20	8
2065		CNG318	Congenital Genu Recurvatum	8
2066		SYN127	Syndromic Ectopia Lentis	8
2067		CRN208	Coronary Sinus Atresia	8
2068		ABS006	Absent Breasts and Nipples	8
2069		CNG062	Congenital Bronchobiliary Fistula	8
2070		CNG097	Congenital Giant Megaureter	7
2071		DWR022	Dwarfism, Proportionate, with Hip Dislocation	7
2072	c	NNS076	Non-Syndromic X-Linked Intellectual Disability 58	7
2073		CNG517	Congenital Agenesis of the Scrotum	7
2074		MSC018	Mosaic Trisomy 6	7
2075		CRB075	Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease	7
2076		SLB001	Saal Bulas Syndrome	7
2077		SPS186	Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome	7
2078		WSC001	Wisconsin Syndrome	7
2079	P	PRT173	Partial Monosomy of the Short Arm of Chromosome 20	7
2080	P	PRT196	Partial Trisomy of the Long Arm of Chromosome 16	7
2081		PRT234	Partial Duplication of Chromosome 7	7
2082		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	7
2083		PLY128	Polyclonal Hyperviscosity Syndrome	7
2084		SNG013	Single-Organ Polyarteritis Nodosa	7
2085		CMP026	Camptodactyly-Ichthyosis Syndrome	7
2086	c	ADL031	Adult Botryoid Rhabdomyosarcoma	7
2087		PST076	Postcardiotomy Right Ventricular Failure	7
2088		AML037	Amelia of Upper Limb	7
2089		TRN052	Transient Hyperammonemia of the Newborn	7
2090	c	PRM287	Primary Adult Heart Tumor	7
2091		DST084	Distal Trisomy 8q	7
2092		CHR215	Chromosome 19p Deletion	7
2093		INF115	Infectious Epithelial Keratitis	7
2094		PRT235	Partial Deletion of the Long Arm of Chromosome 14	7
2095	c	SCN080	Secondary Avascular Necrosis	7
2096		SYN150	Syndromic Cataract	7
2097	c	NNS094	Non-Syndromic X-Linked Intellectual Disability 72	7
2098		CRB063	Cerebello-Olivary Atrophy	7
2099		SPS184	Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome	7
2100		URG006	Urogenital Tract Malformation	7
2101	c	CRB078	Cerebrocostomandibular-Like Syndrome	7
2102	c	ACQ028	Acquired Secondary Polycythemia	7
2103		GNR045	Generalized Lipodystrophy-Associated Progeroid Syndrome	7
2104	c	ACQ064	Acquired Premature Ovarian Failure	7
2105	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	7
2106		DWR002	Dauwerse-Peters Syndrome	7
2107		TRS022	Torsade De Pointes, Short-Coupled Variant	7
2108		MCP019	Mcpherson Robertson Cammarano Syndrome	7
2109		MHT001	Mehta Lewis Patton Syndrome	7
2110		NLD003	Nail Dysplasia, Isolated Congenital	7
2111		SPL017	Splenogonadal Fusion Limb Defects Micrognatia	7
2112		NDL018	Nodular Urticaria Pigmentosa	7
2113		PRT146	Partial Deletion of Chromosome 8	7
2114		PRT149	Partial Deletion of Chromosome 7	7
2115		PRT217	Partial Duplication of the Short Arm of Chromosome 4	7
2116		VLV045	Vulvovaginal Rhabdomyosarcoma	7
2117	c	PTR023	Paternal Uniparental Disomy of Chromosome 13	7
2118		ESN021	Eosinophilic Mastitis	7
2119	c	TTR026	Tetralogy of Fallot Syndrome, Autosomal Recessive	7
2120		LNG103	Lin-Gettig Syndrome	7
2121		JRG001	Jorgenson Lenz Syndrome	7
2122		GNT108	Genetic Infertility	7
2123		DSR032	Disorder of Manganese Transport	7
2124	c	CNG591	Congenital Hypothyroidism Due to Developmental Anomaly	7
2125		CHT002	Chitayat Meunier Hodgkinson Syndrome	7
2126		CHR259	Chromosome 6q25 Microdeletion Syndrome	7
2127		DST096	Distal Arthrogryposis with Hypopituitarism, Intellectual Disability and Facial Anomalies	7
2128		SGM003	Segmentation Syndrome 1	7
2129		UNV005	Universal Acquired Melanosis	7
2130		ISL026	Isolated Sternocostoclavicular Hyperostosis	7
2131	c	PRT170	Partial Monosomy of the Short Arm of Chromosome 17	7
2132		PRT244	Partial Deletion of the Short Arm of Chromosome 12	7
2133		NNS054	Non-Syndromic Postaxial Polydactyly	7
2134		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	7
2135		NNS059	Non-Syndromic Limb Reduction Defect	7
2136		BTZ001	Baetz-Greenwalt Syndrome	6
2137		BDH001	Boudhina Yedes Khiari Syndrome	6
2138	c	CNG110	Congenital Mumps	6
2139		GLY022	Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency	6
2140		HYP196	Hypodontia, X-Linked	6
2141	P	TSS001	Tessier Number 5 Facial Cleft	6
2142		PRT143	Partial Deletion of Chromosome 5	6
2143		PRT189	Partial Duplication of the Long Arm of Chromosome 19	6
2144		GNT162	Genetic Non-Acquired Premature Ovarian Failure	6
2145		UNC009	Unclassified Myelodysplastic/myeloproliferative Disease	6
2146	c	ATS153	Autosomal Recessive Pure Spastic Paraplegia	6
2147		CDC005	Cad-Cdg	6
2148		SMS002	Samson Viljoen Syndrome	6
2149		QLT016	Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan	6
2150	c	ATS439	Autosomal Ichthyosis Syndrome	6
2151		MLT170	Multiple Congenital Anomalies/dysmorphic Syndrome	6
2152		MTP007	Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands	6
2153		BRC020	Brachydactylous Dwarfism Mseleni Type	6
2154	c	CHR162	Chiari Malformation Type 4	6
2155		CRN101	Craniosynostosis Philadelphia Type	6
2156		GYF001	Gay Feinmesser Cohen Syndrome	6
2157	P	PRX076	Peroxisomal Beta-Oxidation Disorder	6
2158		PRG024	Progeroid Syndrome Petty Type	6
2159		CNG261	Congenital Insensitivity to Pain with Hyperhidrosis	6
2160		ISL055	Isolated Facial Myokymia	6
2161		FCL062	Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation	6
2162		12Q001	12q15q21.1 Microdeletion Syndrome	6
2163	c	FRN055	Furuncular Myiasis Due to Cordylobia Rodhaini	6
2164		RDT017	Radiation-Induced Disorder	6
2165		DZX006	Diazoxide-Resistant Focal Hyperinsulinism	6
2166		DST074	Distal Trisomy 20q	6
2167		CHR474	Chronic Diarrhea Due to Glucoamylase Deficiency	6
2168		MTC024	Mitochondrial Genetic Disorders	6
2169	c	KLP013	Klippel-Feil Syndrome 3	6
2170		SRS008	Seres-Santamaria Arimany Muniz Syndrome	6
2171		IDP088	Idiopathic Isolated Micropenis	6
2172	c	PLY005	Polycythemia Due to Hypoxia	6
2173		SCH021	Schaefer Stein Oshman Syndrome	6
2174		SCH032	Schrander-Stumpel Theunissen Hulsmans Syndrome	6
2175		CNG610	Congenital Hypoplasia of Thumb	6
2176		LNG112	Longitudinal Limb Defect	6
2177	c	ATS463	Autosomal Dominant Cerebellar Ataxia Type Iv	6
2178		ECT057	Ectasia of the Right Atrial Appendage	6
2179		CRB183	Cerebral Malformation, Seizures, Hypertrichosis, and Overlapping Fingers	6
2180		ALP024	Alopecia Universalis Onychodystrophy Vitiligo	6
2181		ARR003	Arroyo Garcia Cimadevilla Syndrome	6
2182		CMP033	Complement Receptor Deficiency	6
2183		FRN018	Frenkel Russe Syndrome	6
2184		MSS003	Massa Casaer Ceulemans Syndrome	6
2185		SCK006	Sackey Sakati Aur Syndrome	6
2186		SCH034	Schwartz Cohen-Addad Lambert Syndrome	6
2187		TRY005	Trypanosomiasis, Human West-African	6
2188		ZDK001	Zadik Barak Levin Syndrome	6
2189		HYP850	Hypoglossia/aglossia	6
2190		ATY043	Atypical Norrie Disease Due to Xp11.3 Microdeletion	6
2191		PRT191	Partial Duplication of the Long Arm of Chromosome 17	6
2192		HML043	Hemolytic Disease of the Newborn with Kell Alloimmunization	6
2193		TRN050	Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency	6
2194		GRY003	Grayson-Wilbrandt Corneal Dystrophy	6
2195		ACT171	Acute Opioid Poisoning	6
2196		NDL019	Nodular Lichen Myxedematosus	6
2197		TBL020	Tubular Duplication of the Esophagus	6
2198		DPR003	Diprosopia	6
2199	c	ADL100	Adult-Onset Severe Asthma	6
2200	c	NNS075	Non-Syndromic X-Linked Intellectual Disability 20	6
2201		CNG592	Congenital Aortic Valve Atresia	6
2202	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	6
2203		ANN003	Anencephaly and Spina Bifida X-Linked	5
2204	c	CHR179	Chromosome 1, Uniparental Disomy 1q12 Q21	5
2205		DRK001	Der Kaloustian Mcintosh Silver Syndrome	5
2206		GHS002	Ghose Sachdev Kumar Syndrome	5
2207		PRC025	Precocious Puberty, Gonadotropin-Dependent	5
2208		BNG063	Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy	5
2209		THN007	Thinking Seizures	5
2210		EXT055	Extragonadal Germinoma	5
2211		LWR011	Lower Lip Fistula	5
2212		HYP665	Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome	5
2213		PRT147	Partial Deletion of Chromosome 9	5
2214		PRT201	Partial Duplication of the Long Arm of Chromosome 3	5
2215		PRT209	Partial Duplication of the Short Arm of Chromosome 17	5
2216		PRT211	Partial Duplication of the Short Arm of Chromosome 11	5
2217		INT355	Intercalary Limb Defects	5
2218		DBL020	Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect	5
2219