Oral Diseases Category (1640 diseases)

Including: Teeth, Tongue, Throat, Pharynx, Jaw, Larynx, Oral Cavity
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1	P	FRN044	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1	62
2		PHR003	Pharyngitis	57
3	c	FRN059	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7	51
4	c	FRN043	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3	40
5		FRN051	Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related	59
6	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	45
7		EPP010	Epiphysiolysis of the Hip	30
8		LPN002	Lip and Oral Cavity Cancer	60
9	c	ORF040	Orofaciodigital Syndrome Viii	59
10	c	ORF037	Orofaciodigital Syndrome I	64
11	c	ORF035	Orofaciodigital Syndrome Iv	49
12	P	ORF001	Orofaciodigital Syndrome	49
13	c	ORF005	Orofaciodigital Syndrome 12	13
14	c	EPL114	Epilepsy, Familial Temporal Lobe, 1	48
15	c	ORF033	Orofaciodigital Syndrome V	47
16	c	ORF041	Orofaciodigital Syndrome X	28
17	c	ORF043	Orofaciodigital Syndrome Ix	38
18		MHR002	Mohr Syndrome	37
19		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	36
20	c	EPL115	Epilepsy, Familial Temporal Lobe, 2	40
21	c	ORF042	Orofaciodigital Syndrome Xi	26
22	c	ORF034	Orofaciodigital Syndrome Vi	56
23		CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	52
24	P	FML048	Familial Avascular Necrosis of the Femoral Head	26
25	c	ORF006	Orofaciodigital Syndrome 13	13
26		BRX001	Bruxism	51
27		GRN060	Grn-Related Frontotemporal Lobar Degeneration	43
28		CNT106	Centralopathic Epilepsy	35
29	c	ORF052	Orofaciodigital Syndrome Xviii	25
30	c	LRY009	Larynx Carcinoma in Situ	10
31		MCR037	Macroglossia	47
32	P	AMY106	Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia	45
33	c	ORF038	Orofaciodigital Syndrome Iii	40
34		BNG009	Benign Epilepsy with Centrotemporal Spikes	59
35		ORL013	Oral Lichen Planus	41
36		EXT064	Extraoral Halitosis Due to Methanethiol Oxidase Deficiency	19
37		PLN006	Poland Syndrome	46
38		ORL012	Oral Leukoplakia	32
39	c	EPL128	Epilepsy, Familial Temporal Lobe, 3	29
40		PRG122	Prognathism, Mandibular	26
41	c	EPL113	Epilepsy, Familial Temporal Lobe, 4	24
42		LKP003	Leukoplakia	41
43		MRC002	Marcus Gunn Phenomenon	39
44	c	EPL150	Epilepsy, Familial Temporal Lobe, 7	37
45		LRY002	Laryngostenosis	37
46		TMP002	Temporal Lobe Neoplasm	31
47		SHP004	Shprintzen Omphalocele Syndrome	24
48		FMR001	Femoral Vein Thrombophlebitis	23
49		FMR013	Femoral Agenesis/hypoplasia	21
50	c	FRN040	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2	39
51	c	EPL081	Epilepsy, Familial Temporal Lobe, 5	32
52	c	EPL152	Epilepsy, Familial Temporal Lobe, 8	23
53		CTR154	Cataract, Aberrant Oral Frenula, and Growth Retardation	19
54		CNG529	Congenital Femoral Deficiency	19
55	P	CTR002	Cataract	60
56	P	TMP001	Temporal Lobe Epilepsy	49
57	c	CTR103	Cataract 4, Multiple Types	47
58	c	CTR098	Cataract 1, Multiple Types	47
59	c	CTR182	Cataract 23, Multiple Types	44
60	c	CTR096	Cataract 6, Multiple Types	44
61	c	CTR130	Cataract 9, Multiple Types	43
62	c	CTR118	Cataract 14, Multiple Types	40
63	c	CTR125	Cataract 7	39
64	c	CTR132	Cataract 3, Multiple Types	39
65	c	CTR115	Cataract 16, Multiple Types	39
66	c	CTR170	Cataract 30, Multiple Types	39
67	c	CTR174	Cataract 40	38
68	c	CTR113	Cataract 11, Multiple Types	38
69	c	CTR145	Cataract 44	37
70	c	CTR129	Cataract 31, Multiple Types	36
71	c	CTR181	Cataract 18	35
72	c	CTR122	Cataract 5, Multiple Types	34
73	c	CTR183	Cataract 38	34
74	c	CTR095	Cataract 8, Multiple Types	34
75	c	CTR102	Cataract 2, Multiple Types	33
76	c	CTR131	Cataract 17, Multiple Types	32
77	c	CTR187	Cataract 48	32
78	c	CTR111	Cataract 36	32
79	c	CTR185	Cataract 30	32
80	c	CTR124	Cataract 10, Multiple Types	31
81	c	CTR175	Cataract 24	30
82	c	CTR119	Cataract 32, Multiple Types	30
83	c	CTR141	Cataract 21, Multiple Types	29
84	c	CTR180	Cataract 22, Multiple Types	27
85	c	CTR116	Cataract 15, Multiple Types	26
86	c	CTR105	Cataract 12, Multiple Types	26
87	c	CTR166	Cataract 33, Multiple Types	26
88	c	CTR121	Cataract 25	26
89	c	CTR097	Cataract 34, Multiple Types	26
90	c	CTR169	Cataract 29	24
91	c	CTR165	Cataract 19, Multiple Types	24
92	c	CTR162	Cataract 47	23
93	c	CTR136	Cataract 41	23
94	c	CTR157	Cataract 28	23
95	c	CTR158	Cataract 37	23
96		ACR019	Acropectoral Syndrome	23
97	c	CTR184	Cataract 39, Multiple Types	22
98	c	CTR106	Cataract 20, Multiple Types	22
99	c	CTR110	Cataract 26, Multiple Types	22
100	c	CTR160	Cataract 45	21
101	c	CTR144	Cataract 43	21
102	c	CTR178	Cataract 27	21
103	c	CTR128	Cataract 33	20
104	c	CTR159	Cataract 35	20
105	c	CTR139	Cataract 42	20
106	c	CTR190	Cataract 49	18
107		LRY031	Larynx, Congenital Partial Atresia of	15
108		TTH022	Teeth, Congenital Absence of, with Taurodontia and Sparse Hair	12
109	c	CTR008	Cataract Congenital Autosomal Dominant	5
110		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	49
111		TMP019	Temporomandibular Joint Anomaly	38
112	P	TMP003	Temporal Arteritis	69
113		MRL006	Meralgia Paraesthetica, Familial	29
114	c	JVN019	Juvenile Temporal Arteritis	26
115		SPN349	Spondylometaphyseal Dysplasia, Type A4	23
116		LTT006	Littoral Cell Angioma of the Spleen	20
117		BLC017	Black Hairy Tongue	19
118		ORL024	Oral and Digital Anomalies with Ichthyosis	16
119		TNS005	Tonsillitis	55
120		ACR002	Acrocapitofemoral Dysplasia	51
121	c	ORF036	Orofaciodigital Syndrome Xiv	31
122	c	TTH013	Tooth Agenesis, Selective, 4	31
123	c	EPL124	Epilepsy, Familial Temporal Lobe, 6	28
124	c	TTH012	Tooth Agenesis, Selective, 3	24
125	c	TTH026	Tooth Agenesis, Selective, 7	19
126		MSL004	Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis	19
127	c	TTH027	Tooth Agenesis, Selective, 8	18
128	c	TTH025	Tooth Agenesis, Selective, 9	18
129		FCL077	Focal Epithelial Hyperplasia, Oral	17
130		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	14
131		KYP007	Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	14
132	c	TTH011	Tooth Agenesis, Selective, 2	13
133	c	TTH017	Tooth Agenesis, Selective, 5	11
134		MLP007	Malposition of Teeth with or Without Hypodontia/oligodontia	11
135		LRY014	Larynx Leiomyosarcoma	11
136		LRY008	Larynx Liposarcoma	9
137	c	PHR001	Pharynx Carcinoma in Situ	6
138		WYR002	Weyers Acrofacial Dysostosis	56
139		PTL009	Patella, Chondromalacia of	36
140		TTH030	Teeth, Supernumerary	33
141		TRD003	Taurodontism	28
142	c	ORF046	Orofaciodigital Syndrome Xvi	25
143	c	ORF045	Orofaciodigital Syndrome Xv	24
144		LRY027	Laryngeal Papillomatosis	22
145		HYP182	Hypertrichosis, Anterior Cervical	21
146		PCH004	Pachygyria, Frontotemporal	20
147		TTH029	Teeth Present at Birth	20
148		SLP011	Slipped Femoral Capital Epiphyses	19
149	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	19
150		TTH031	Teeth, Fused	18
151		SQM026	Squamous Cell Carcinoma of Oral Cavity and Lip	5
152		IMP007	Impairment of Oral Perception	4
153	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	61
154	c	MYP072	Myopathy, Myofibrillar, 1	57
155	c	MYP078	Myopathy, Myofibrillar, 3	54
156	c	MYP079	Myopathy, Myofibrillar, 5	49
157	P	MYF003	Myofibrillar Myopathy	48
158	c	MYP081	Myopathy, Myofibrillar, 6	46
159		MLK003	Melkersson-Rosenthal Syndrome	46
160	c	MYP082	Myopathy, Myofibrillar, 2	45
161	c	MYP080	Myopathy, Myofibrillar, 4	45
162		ACT209	Acatalasemia	45
163		ORM002	Oromandibular Dystonia	45
164		SQM002	Squamous Cell Papilloma	38
165	c	MYP119	Myopathy, Myofibrillar, 7	35
166		HYP679	Hypoglossia-Hypodactylia	34
167	c	MYP118	Myopathy, Myofibrillar, 8	34
168		DVL122	Developmental Delay, Impaired Speech, and Behavioral Abnormalities	29
169		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	29
170		ACH006	Achard Syndrome	28
171	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	27
172	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	26
173		DYS096	Dyskeratosis, Hereditary Benign Intraepithelial	26
174	c	ORF051	Orofaciodigital Syndrome Xvii	25
175		NRD104	Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities	23
176		INT368	Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities	23
177	c	MYF011	Myofibrillar Myopathy 10	23
178	c	MYF012	Myofibrillar Myopathy 11	22
179		GLB029	Global Developmental Delay with Speech and Behavioral Abnormalities	22
180		INT390	Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies	18
181		BLS009	Blistering, Acantholytic, of Oral and Laryngeal Mucosa	16
182		SCR015	Scarlet Fever	43
183		FRN020	Frontal Fibrosing Alopecia	42
184		JWD001	Jawad Syndrome	40
185		PTL002	Patellofemoral Pain Syndrome	35
186	c	INC033	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2	30
187		SPR108	Suprabulbar Paresis, Congenital	30
188		PRR019	Perioral Myoclonia with Absences	28
189		CHN019	Chand Syndrome	28
190		EXT009	Extratemporal Epilepsy	21
191	c	ORF039	Orofaciodigital Syndrome Vii	21
192		ACR037	Acromegaloid Facial Appearance Syndrome	20
193		HMR045	Humerofemoral Hypoplasia with Radiotibial Ray Deficiency	19
194		DVL138	Developmental Delay, Impaired Speech, and Behavioral Abnormalities, with or Without Seizures	18
195		ORM001	Oro-Mandibular-Limb Hypogenesis Syndrome	16
196		PHR008	Pharynx Squamous Cell Carcinoma	14
197	c	ORF054	Orofaciodigital Syndrome Xix	13
198		INF141	Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression	7
199	c	ART144	Arthrogryposis, Distal, Type 1a	65
200		PLM031	Poliomyelitis	63
201	P	DST002	Distal Arthrogryposis	61
202	c	ART061	Arthrogryposis, Distal, Type 2a	60
203	c	ART120	Arthrogryposis, Distal, Type 3	55
204		ANS012	Anus Disease	53
205	c	ART119	Arthrogryposis, Distal, Type 5	53
206		HMH004	Hemihyperplasia, Isolated	52
207		CLC017	Calcification of Joints and Arteries	52
208	P	TCD001	Tic Disorder	52
209	c	ART155	Arthrogryposis, Distal, Type 2b1	50
210		PRG033	Progressive Non-Fluent Aphasia	48
211	c	ART147	Arthrogryposis, Distal, Type 7	48
212		NSP002	Nasopharyngitis	46
213	c	CHR056	Chronic Tic Disorder	44
214	c	ART104	Arthrogryposis, Distal, Type 5d	43
215	c	ART157	Arthrogryposis, Distal, Type 2b3	41
216		ALV001	Alveolar Periostitis	40
217		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	40
218	c	ART156	Arthrogryposis, Distal, Type 2b2	37
219	c	ART112	Arthrogryposis, Distal, Type 10	37
220		RHN002	Rhinoscleroma	36
221	c	CHR057	Chronic Laryngitis	35
222	c	ART168	Arthrogryposis, Distal, Type 1c	35
223	c	AMY079	Amyotrophic Lateral Sclerosis Type 15	33
224		SKR001	Skraban-Deardorff Syndrome	33
225	c	ACT072	Acute Laryngitis	32
226	c	ART060	Arthrogryposis, Distal, Type 1b	30
227	c	CFF013	Coffin-Siris Syndrome 8	29
228	c	ART128	Arthrogryposis, Distal, Type 6	27
229	c	ART131	Arthrogryposis, Distal, Type 4	27
230	c	VRL001	Viral Laryngitis	26
231		PRQ002	Paraquat Poisoning	24
232	c	TRN005	Transient Tic Disorder	24
233		LRY006	Larynx Squamous Papilloma	23
234	c	ANG072	Angioedema, Hereditary, 4	23
235		SPN356	Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia	22
236		ORL022	Oral Erosive Lichen	22
237		VLV046	Vulvovaginal Gingival Syndrome	21
238	c	ART175	Arthrogryposis, Distal, Type 11	19
239	c	ART054	Arthrogryposis, Distal, Type 2e	18
240		PRL048	Proliferative Verrucous Leukoplakia	17
241		TRC064	Trochlear Dysplasia	16
242		AND017	Anodontia of Permanent Dentition	14
243		FCL075	Focal Epithelial Hyperplasia of the Oral Mucosa	10
244		C9R003	C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis	10
245		IMP016	Impacted Teeth, Multiple	9
246		TTH028	Teeth, Odd Shapes of	8
247		ORL026	Oral Sensibility, Disturbance of	8
248		CRB173	Carabelli Anomaly of Maxillary Molar Teeth	8
249		MLC005	Malocclusion Due to Protuberant Upper Front Teeth	7
250		LRY001	Larynx Leiomyoma	6
251		FRS005	Fraser Jequier Chen Syndrome	6
252		CNN014	Canine Teeth, Absence of Upper Permanent	6
253		SNS025	Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth	5
254		NRX002	Neuroaxonal Dystrophy Renal Tubular Acidosis	5
255		BRN146	Branchial Arch or Oral-Acral Syndrome	3
256		FRN053	Frontotemporal Neurodegeneration with Movement Disorder	3
257		GNT109	Genetic Frontotemporal Degeneration with Dementia	3
258		GNT065	Genetic Branchial Arch or Oral-Acral Syndrome	2
259		GNT156	Genetic Larynx Anomaly	2
260		CRB068	Cerebral Calcifications Opalescent Teeth Phosphaturia	1
261	c	HRD002	Hereditary Angioedema	66
262	P	PRD008	Periodontitis	61
263	c	ANG070	Angioedema, Hereditary, 1	59
264	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	59
265		GNG013	Gingivitis	58
266		MTH009	Mouth Disease	56
267	P	CLS054	Classic Ehlers-Danlos Syndrome	56
268	P	ANG015	Angioedema	55
269	P	HDC001	Headache	54
270		ESP023	Esophageal Disease	53
271		STM007	Stomatitis	51
272	c	PRD040	Periodontitis, Chronic	51
273		GNG003	Gingival Recession	51
274	c	FBR084	Fibromatosis, Gingival, 1	49
275		SLT005	Solitary Median Maxillary Central Incisor	49
276		TRP006	Tarp Syndrome	49
277		CHL056	Cheilitis	47
278		DNT006	Dental Pulp Necrosis	46
279	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	46
280		HRP001	Herpangina	44
281	P	PRD037	Periodontal Ehlers-Danlos Syndrome	44
282		RTR008	Root Resorption	43
283		CLF028	Cleft Soft Palate	43
284		SPP003	Suppurative Periapical Periodontitis	42
285		DNT014	Dental Pulp Disease	42
286	P	GNG025	Gingival Fibromatosis	41
287	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	40
288	c	ACQ012	Acquired Angioedema	40
289	P	PRT026	Parotitis	40
290		PRP002	Periapical Granuloma	40
291	c	CFF011	Coffin-Siris Syndrome 6	39
292	c	CHR013	Chronic Apical Periodontitis	39
293		ACT062	Acute Pericementitis	39
294		TTH008	Tooth Resorption	38
295		ODN009	Odontoonychodermal Dysplasia	37
296		ANG061	Angular Cheilitis	36
297	c	AML017	Amelogenesis Imperfecta, Type Ib	36
298		DNT008	Denture Stomatitis	35
299		ACT018	Acute Laryngopharyngitis	34
300	P	DNT007	Dentin Sensitivity	34
301		LTT002	Letterer-Siwe Disease	34
302	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	34
303		GNG006	Gingival Hypertrophy	34
304		DNT010	Dentin Caries	34
305		DNT046	Dental Abscess	33
306		AML014	Amelogenesis Imperfecta, Hypomaturation Type, Iia2	33
307		HYP021	Hypercementosis	33
308	c	AML018	Amelogenesis Imperfecta, Type Ic	32
309		AML015	Amelogenesis Imperfecta, Hypomaturation Type, Iia3	32
310		TTH007	Tooth Erosion	31
311		RTC003	Root Caries	31
312		DNT003	Dental Pulp Calcification	31
313		UVL009	Uvula, Bifid	30
314	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	30
315		AML062	Amelogenesis Imperfecta, Hypomaturation Type, Iia5	30
316	P	EPL003	Epulis	29
317		PRT031	Parotid Disease	28
318		NCR003	Necrotizing Sialometaplasia	27
319		ENM001	Enamel Caries	27
320	c	KHL004	Kohlschutter-Tonz Syndrome-Like	27
321	c	HYP515	Hypotrichosis 3	27
322		LGP003	Logopenic Progressive Aphasia	26
323	c	FBR079	Fibromatosis, Gingival, 2	26
324		ENM002	Enamel Erosion	26
325		AML011	Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2	25
326		BRN129	Branchial Cleft Anomalies	25
327		RCH011	Rauch-Steindl Syndrome	25
328		TBS009	Teebi-Shaltout Syndrome	25
329		MDN001	Median Rhomboid Glossitis	24
330		AML005	Amelogenesis Imperfecta Hypomaturation Type	23
331		VNZ001	Venezuelan Hemorrhagic Fever	23
332		OCL071	Oculocerebral Hypopigmentation Syndrome of Preus	23
333		LSS043	Lessel-Kreienkamp Syndrome	23
334	c	EXT020	External Pathological Resorption	22
335	c	AML048	Amelogenesis Imperfecta, Type Ih	22
336		CHR584	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb	21
337	c	FBR092	Fibromatosis, Gingival, 5	21
338		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	21
339		KRT063	Keratocystic Odontogenic Tumor	20
340		INC023	Incisors, Fused Mandibular	20
341	c	ANG073	Angioedema, Hereditary, 5	20
342	c	ANG074	Angioedema, Hereditary, 6	20
343		DNT002	Dentine Erosion	19
344		MRB007	Marbach-Rustad Progeroid Syndrome	19
345	c	ANG076	Angioedema, Hereditary, 8	19
346		EPL162	Epilepsy-Telangiectasia	18
347	c	USM002	Usmani-Riazuddin Syndrome, Autosomal Recessive	17
348	c	AML056	Amelogenesis Imperfecta, Type Iiib	17
349	c	FBR077	Fibromatosis, Gingival, 3	17
350		RCN002	Ricin Poisoning	17
351	c	FBR080	Fibromatosis, Gingival, 4	16
352	c	ACQ036	Acquired Angioedema Type 2	14
353	c	TNX002	Tnxb-Related Classical-Like Ehlers-Danlos Syndrome	14
354	c	RRH030	Rare Headache	13
355		THR083	Third Branchial Cleft Anomaly	13
356	c	AML067	Amelogenesis Imperfecta, Type Ik	13
357		HYP879	Hypoplastic Femurs and Pelvis	13
358	c	SSC054	Susceptibility to Localized Juvenile Periodontitis	10
359	c	LRY050	Laryngotracheoesophageal Cleft Type 2	8
360	c	ACQ035	Acquired Angioedema Type 1	8
361	c	LRY048	Laryngotracheoesophageal Cleft Type 0	7
362	c	HRD211	Hereditary Dentin Defect	6
363	c	PRT125	Parotitis, Juvenile Recurrent	6
364		PNN004	Pinnae Fistula or Cyst	5
365	P	INT045	Internal Pathological Resorption	3
366		MLF003	Malformative Syndrome with Dentinogenesis Imperfecta	3
367		PLP003	Pulp Erosion	3
368	P	FRN006	Frontotemporal Dementia	72
369	P	LRY044	Larynx Cancer	55
370		JWC001	Jaw Cancer	23
371		LGG001	Legg-Calve-Perthes Disease	59
372	c	FRN060	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6	33
373		ECT073	Ectodermal Dysplasia/short Stature Syndrome	24
374	c	FRN045	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4	42
375		FMR003	Femoral Neuropathy	37
376		LRY013	Laryngeal Neuroendocrine Tumor	32
377		GNT026	Gnathodiaphyseal Dysplasia	49
378	c	AMY104	Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia	24
379	c	AMY099	Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia	18
380		LRY018	Laryngeal Squamous Cell Carcinoma	51
381		LRY015	Laryngeal Benign Neoplasm	46
382		ATS301	Autosomal Dominant Epilepsy with Auditory Features	38
383	c	AMY105	Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia	32
384		FMR002	Femoral Cancer	29
385		CLT001	Clitoris Cancer	13
386	c	PCH015	Pachyonychia Congenita 1	62
387	c	AMY114	Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia	20
388		CMB022	Combined Cellular and Humoral Immune Defects with Granulomas	42
389		FRN030	Frontotemporal Dementia with Parkinsonism-17	28
390		INT402	Intellectual Developmental Disorder, Autosomal Dominant 50, with Behavioral Abnormalities	25
391		LRY020	Larynx Sarcoma	18
392	c	AMY091	Amyotrophic Lateral Sclerosis 1	87
393		OST044	Osteoglophonic Dysplasia	55
394	c	AMY045	Amyotrophic Lateral Sclerosis 4, Juvenile	51
395		ORP003	Oropharynx Cancer	50
396	c	AMY069	Amyotrophic Lateral Sclerosis 21	47
397	c	AMY090	Amyotrophic Lateral Sclerosis 8	46
398	c	AMY058	Amyotrophic Lateral Sclerosis 2, Juvenile	44
399	c	AMY083	Amyotrophic Lateral Sclerosis 11	42
400	c	AMY057	Amyotrophic Lateral Sclerosis 16, Juvenile	41
401	P	JVN050	Juvenile Amyotrophic Lateral Sclerosis	41
402	c	AMY088	Amyotrophic Lateral Sclerosis 3	38
403	c	AMY059	Amyotrophic Lateral Sclerosis 19	37
404	c	AMY067	Amyotrophic Lateral Sclerosis 18	37
405		SPR021	Supraglottis Cancer	34
406	c	AMY085	Amyotrophic Lateral Sclerosis 9	33
407	c	AMY022	Amyotrophic Lateral Sclerosis Type 5	33
408	c	AMY094	Amyotrophic Lateral Sclerosis 5, Juvenile	32
409	c	AMY081	Amyotrophic Lateral Sclerosis Type 12	32
410	c	AMY063	Amyotrophic Lateral Sclerosis 20	32
411		INT328	Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities	29
412	c	AMY074	Amyotrophic Lateral Sclerosis Type 14	26
413		LRY011	Larynx Verrucous Carcinoma	24
414	c	AMY089	Amyotrophic Lateral Sclerosis 7	24
415	c	AMY110	Amyotrophic Lateral Sclerosis 24	23
416	c	AMY108	Amyotrophic Lateral Sclerosis 23	22
417	c	AMY112	Amyotrophic Lateral Sclerosis 25	20
418		CLF036	Cleft Tongue	16
419		OST154	Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures	12
420		CHM008	Chmp2b Frontotemporal Dementia	11
421		STR008	Strongyloidiasis	52
422		IRN004	Iron-Refractory Iron Deficiency Anemia	45
423		HFN001	Hao-Fountain Syndrome	33
424	c	AMY113	Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia	31
425		CLF048	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features	29
426		KRT066	Keratosis, Focal Palmoplantar and Gingival	25
427		NRD086	Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia	25
428		DVL125	Developmental Delay with or Without Intellectual Impairment or Behavioral Abnormalities	24
429		FCL067	Focal Facial Dermal Dysplasia 1, Brauer Type	23
430		INT374	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or Without Seizures	23
431		TLC002	Tolchin-Le Caignec Syndrome	22
432	c	FRN062	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 5	21
433		NRD130	Neurodevelopmental Disorder with Motor and Speech Delay and Behavioral Abnormalities	21
434	c	FRN061	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8	21
435	c	MSC170	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	69
436	c	MSC169	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	58
437		RBF001	Riboflavin Deficiency	58
438	P	LMB006	Limb-Girdle Muscular Dystrophy	56
439	P	FBR031	Febrile Seizures	52
440	c	MSC176	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	50
441	c	MSC175	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	49
442	c	MSC173	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	48
443	c	MSC178	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	47
444	c	ATS298	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	46
445	c	MSC172	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	46
446	c	FBR070	Febrile Seizures, Familial, 8	45
447		MLD006	Mal De Meleda	45
448	c	ATS207	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	45
449	c	MSC174	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	44
450	c	MSC177	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	43
451	c	ATS246	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	43
452	c	MSC171	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	43
453	c	ATS277	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	43
454		OST115	Osteonecrosis of the Jaw	42
455	c	ATS331	Autosomal Recessive Limb-Girdle Muscular Dystrophy	42
456	P	RCR004	Recurrent Respiratory Papillomatosis	42
457	c	ATS217	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	42
458	c	MSC179	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	41
459	c	MSC180	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	41
460	c	ATS297	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	40
461	c	MSC183	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	39
462	c	MSC181	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	38
463	c	FBR072	Febrile Seizures, Familial, 11	38
464	c	FBR069	Febrile Seizures, Familial, 4	37
465	c	MSC184	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	37
466	c	ATS299	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	36
467	c	ATS211	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	36
468	c	MSC189	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	34
469	P	BNT007	Bent Bone Dysplasia Syndrome 1	34
470	c	LMB073	Limb-Girdle Muscular Dystrophy Type 1a	34
471	c	FML350	Familial Febrile Seizures	32
472	c	FBR073	Febrile Seizures, Familial, 1	32
473	c	ATS280	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	31
474	c	ATS330	Autosomal Dominant Limb-Girdle Muscular Dystrophy	31
475	c	MSC058	Muscular Dystrophy, Limb-Girdle, Type 1h	30
476	c	FBR074	Febrile Seizures, Familial, 6	29
477		MXL017	Maxillary Cancer	29
478	c	MSC191	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	29
479	c	MSC187	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	27
480	c	FBR071	Febrile Seizures, Familial, 5	27
481	c	ATS333	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	27
482	c	FBR067	Febrile Seizures, Familial, 9	26
483		INT366	Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities	26
484	c	LMB074	Limb-Girdle Muscular Dystrophy Type 1b	25
485	c	ATS332	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w	24
486		MND001	Mandibular Cancer	24
487	c	MSC186	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21	23
488		NRD147	Neurodevelopmental Disorder with or Without Variable Movement or Behavioral Abnormalities	23
489	c	MSC202	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	22
490	c	FBR076	Febrile Seizures, Familial, 7	22
491	c	MSC199	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	20
492	c	ATS354	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z	20
493	c	FBR068	Febrile Seizures, Familial, 10	19
494	c	INC035	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3	18
495	c	BNT008	Bent Bone Dysplasia Syndrome 2	17
496	c	PMG002	Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	14
497		BNG066	Benign Familial Mesial Temporal Lobe Epilepsy	8
498	P	CFF008	Coffin-Siris Syndrome 1	64
499	P	HYP035	Hypophosphatasia	62
500		ANG005	Anogenital Venereal Wart	56
501	c	LYM145	Lymphatic Malformation 5	52
502		HMF009	Hemifacial Hyperplasia	51
503	c	LYM144	Lymphatic Malformation 1	48
504	c	ATS279	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	46
505	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	43
506	c	CFF009	Coffin-Siris Syndrome 4	43
507	P	OTT001	Otitis Externa	42
508	c	LYM161	Lymphatic Malformation 12	42
509		BCL002	B Cell Deficiency	42
510		GNT001	Giant Cell Reparative Granuloma	41
511	P	DYS215	Dyskinesia with Orofacial Involvement, Autosomal Dominant	38
512		EPP011	Epiphyseal Chondrodysplasia, Miura Type	38
513	c	CFF007	Coffin-Siris Syndrome 2	38
514	c	CFF010	Coffin-Siris Syndrome 3	38
515	c	AMY023	Amyotrophic Lateral Sclerosis Type 6	37
516	c	DVL050	Developmental and Epileptic Encephalopathy 24	37
517		SYD002	Sydenham Chorea	36
518		GBR007	Gabriele-De Vries Syndrome	36
519	c	LYM150	Lymphatic Malformation 7	34
520	c	RNG029	Ring Chromosome 14 Syndrome	34
521	c	LYM149	Lymphatic Malformation 6	34
522	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	33
523	c	RNG008	Ring Chromosome 13	33
524	c	CFF014	Coffin-Siris Syndrome 9	33
525	c	RNG023	Ring Chromosome 7	33
526	c	RNG018	Ring Chromosome 22	32
527	P	RRL003	Rare Lymphatic Malformation	31
528	c	RNG017	Ring Chromosome 21	31
529	c	RNG004	Ring Chromosome 1	30
530	c	CFF017	Coffin-Siris Syndrome 12	29
531	c	RNG022	Ring Chromosome 6	29
532	c	RNG007	Ring Chromosome 12	29
533	c	RNG020	Ring Chromosome 4	28
534	c	MLG042	Malignant Otitis Externa	28
535		FXC001	Foix Chavany Marie Syndrome	28
536	c	RNG024	Ring Chromosome 8	28
537	c	RNG005	Ring Chromosome 10	28
538		LRY005	Laryngeal Small Cell Carcinoma	27
539	P	RNG032	Ring Chromosome	27
540	c	RNG013	Ring Chromosome 18	26
541	c	CFF006	Coffin-Siris Syndrome 5	26
542	c	RNG010	Ring Chromosome 15	25
543	c	RNG016	Ring Chromosome 20	25
544	c	LYM147	Lymphatic Malformation 3	24
545	c	RNG006	Ring Chromosome 11	24
546	c	LYM148	Lymphatic Malformation 4	24
547	c	DYS217	Dyskinesia with Orofacial Involvement, Autosomal Recessive	24
548	c	RNG015	Ring Chromosome 2	23
549	c	AMY109	Amyotrophic Lateral Sclerosis Type 22	23
550	c	CFF016	Coffin-Siris Syndrome 11	23
551	c	RNG019	Ring Chromosome 3	23
552	c	RNG025	Ring Chromosome 9	22
553	c	RNG021	Ring Chromosome 5	22
554		LRY010	Laryngeal Adenoid Cystic Carcinoma	22
555	c	RNG012	Ring Chromosome 17	22
556	c	LYM155	Lymphatic Malformation 8	21
557	c	LYM159	Lymphatic Malformation 10	21
558	c	RNG011	Ring Chromosome 16	19
559	c	RNG014	Ring Chromosome 19	19
560		BND017	Bone Dysplasia, Lethal, Holmgren Type	19
561	c	LYM158	Lymphatic Malformation 9	19
562	c	RNG031	Ring Chromosome Y Syndrome	18
563	c	LYM160	Lymphatic Malformation 11	17
564		GRN059	Grn Frontotemporal Dementia	17
565	c	LYM146	Lymphatic Malformation 2	16
566	c	MPT002	Mapt-Related Frontotemporal Dementia	11
567		GGR002	Geographic and Fissured Tongue	11
568		TNG011	Tongue, Pigmented Fungiform Papillae of	10
569		TNG010	Tongue Curling, Folding, or Rolling	10
570		EPP023	Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness	9
571		FLL049	Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts	5
572		FRN054	Frontotemporal Degeneration with Dementia	5
573		PTT067	Pituitary Hormone Deficiency of Tumoral Origin	4
574		NRB018	Neurobehavioral Disorder with Prenatal Alcohol Exposure	3
575	c	HRD010	Hereditary Spastic Paraplegia	68
576	c	DYS056	Dystonia 12	67
577	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
578		GLS018	Glass Syndrome	66
579	P	DYS154	Dystonia	66
580		CLF027	Cleft Palate, Isolated	63
581		RHM001	Rheumatic Fever	62
582	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	61
583	c	PRD039	Periodontitis, Aggressive, 1	59
584	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	59
585	P	STC001	Stickler Syndrome	58
586		GNG011	Gingival Disease	58
587	c	STC015	Stickler Syndrome, Type I	57
588	P	AGG001	Aggressive Periodontitis	57
589	P	JNC001	Junctional Epidermolysis Bullosa	57
590	P	ATS011	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	56
591		KBG001	Kbg Syndrome	55
592	P	MMP001	Mumps	55
593		CLF001	Cleft Lip	55
594	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	55
595	c	EPD115	Epidermolysis Bullosa, Junctional 1b, Severe	54
596	c	HYP292	Hypophosphatasia, Infantile	53
597	P	LRY019	Laryngitis	52
598	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	52
599	c	EPD114	Epidermolysis Bullosa, Junctional 1a, Intermediate	51
600		GNG012	Gingival Overgrowth	51
601	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	51
602	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	50
603		PRP017	Periapical Periodontitis	50
604	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	50
605	c	HRD227	Hereditary Spastic Paraplegia 35	50
606		PLP001	Pulpitis	50
607	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	49
608		ADJ001	Adjustment Disorder	48
609		HYP596	Hypophosphatasia, Childhood	48
610	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	48
611	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	47
612		TTH006	Tooth Disease	47
613	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	47
614		CRB147	Cerebellofaciodental Syndrome	47
615	P	EPD094	Epidermolysis Bullosa Simplex 1a, Generalized Severe	47
616	c	DYS059	Dystonia 16	46
617	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	46
618	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	46
619		CRP002	Croup	46
620	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	45
621	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	45
622	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	45
623	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	45
624	c	HRD220	Hereditary Spastic Paraplegia 30	45
625	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	44
626	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	44
627	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	44
628	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	44
629	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	44
630	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	43
631	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	43
632	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	43
633	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	43
634	P	BRC015	Bruck Syndrome	43
635	c	DYS119	Dystonia 9	43
636	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	42
637	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	42
638	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	42
639	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	42
640	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	42
641	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	42
642	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	41
643	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	41
644	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	41
645	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	41
646	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	41
647	c	PCH010	Pachyonychia Congenita 3	41
648	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	41
649		PRC001	Pericoronitis	40
650	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	40
651	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	40
652	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	39
653	c	AML020	Amelogenesis Imperfecta, Type Iv	39
654	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	39
655	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	39
656	c	DVL052	Developmental and Epileptic Encephalopathy 26	39
657	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	39
658		SLL001	Sialolithiasis	38
659	c	EPD096	Epidermolysis Bullosa Simplex 1b, Generalized Intermediate	38
660	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	38
661	c	DYS172	Dystonia 27	38
662	c	SPS238	Spastic Paraplegia 81, Autosomal Recessive	37
663	c	DYS151	Dystonia 25	37
664	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	37
665		NCR001	Necrotizing Ulcerative Gingivitis	37
666	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	37
667		HMM004	Hamamy Syndrome	36
668	c	DYS146	Dystonia 24	36
669	P	ENC056	Encephalopathy, Acute, Infection-Induced 4	36
670	c	SPS239	Spastic Paraplegia 82, Autosomal Recessive	36
671	c	EPD113	Epidermolysis Bullosa Simplex Generalized Type	36
672	c	SPS237	Spastic Paraplegia 30, Autosomal Dominant	36
673	c	AML047	Amelogenesis Imperfecta, Type Ia	36
674	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	36
675		HMM002	Haim-Munk Syndrome	36
676	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	35
677	c	DYS162	Dystonia, Juvenile-Onset	35
678		VTM010	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2	35
679	c	HRD229	Hereditary Spastic Paraplegia 56	35
680	c	SPS092	Spastic Paraplegia 11	35
681		ULC007	Ulcerative Stomatitis	34
682	c	ATS076	Autosomal Recessive Stickler Syndrome	34
683		LRY026	Laryngeal Cleft	34
684	P	SPS012	Spastic Paraplegia 3a	34
685	c	DYS145	Dystonia 23	33
686	c	HRD226	Hereditary Spastic Paraplegia 49	33
687	c	EPL073	Epilepsy, Nocturnal Frontal Lobe, 1	33
688	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
689	c	EPL096	Epilepsy, Nocturnal Frontal Lobe, 5	33
690	c	BRC047	Bruck Syndrome 1	33
691	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	33
692	c	SPS025	Spastic Paraplegia 15	32
693		GRN005	Granuloma Inguinale	32
694	c	EPD100	Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate or Severe, Autosomal Recessive	32
695		NWN001	New-Onset Refractory Status Epilepticus	32
696	c	ATS533	Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	31
697	c	EPD106	Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive	31
698	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	31
699	c	SPS243	Spastic Paraplegia 85, Autosomal Recessive	31
700		RGN005	Regional Odontodysplasia	31
701	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	31
702	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	31
703	c	EPL202	Epilepsy, Nocturnal Frontal Lobe, 2	31
704	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	31
705	P	HYP658	Hypoplastic Amelogenesis Imperfecta	30
706	c	BRC048	Bruck Syndrome 2	30
707		DYS198	Dystonia, Focal, Task-Specific	30
708	c	SPS240	Spastic Paraplegia 83, Autosomal Recessive	30
709	c	AML064	Amelogenesis Imperfecta, Type Iiic	30
710	c	SPS244	Spastic Paraplegia 86, Autosomal Recessive	30
711		SFT002	Soft Palate Cancer	29
712	c	HRD186	Hereditary Spastic Paraplegia 51	29
713	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	29
714	c	EPL204	Epilepsy, Nocturnal Frontal Lobe, 4	29
715	c	SPS242	Spastic Paraplegia 84, Autosomal Recessive	29
716	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
717	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	29
718	c	HRD188	Hereditary Spastic Paraplegia 72	29
719	c	SPS091	Spastic Paraplegia 4	29
720	c	DVL080	Developmental and Epileptic Encephalopathy 56	28
721	c	CNG004	Congenital Epulis	28
722	c	SPS013	Spastic Paraplegia 8	28
723		PRD003	Periodontosis	28
724		MCC003	Mucocele of Salivary Gland	28
725	c	PCH011	Pachyonychia Congenita 4	27
726	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
727	c	AML006	Amelogenesis Imperfecta Hypoplastic Type, Ig	27
728	c	ENC060	Encephalopathy, Acute, Infection-Induced 1	27
729	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	27
730		ORL003	Oral Tuberculosis	27
731		STN014	Stankiewicz-Isidor Syndrome	26
732		TTH005	Teeth Hard Tissue Disease	26
733	c	EPD124	Epidermolysis Bullosa, Junctional 5a, Intermediate	26
734	c	EPL187	Epilepsy, Familial Focal, with Variable Foci 2	26
735	c	EPD104	Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive	25
736	c	DYS212	Dystonia 30	25
737	c	EPL220	Epilepsy, Familial Focal, with Variable Foci 4	25
738		MTP004	Metaphyseal Acroscyphodysplasia	24
739	c	HRD210	Hereditary Spastic Paraplegia 23	24
740		16P004	16p13.11 Microduplication Syndrome	24
741	c	AML050	Amelogenesis Imperfecta, Type if	24
742	P	ACT046	Acute Apical Periodontitis	24
743	c	SPS042	Spastic Paraplegia 9	24
744	c	ENC064	Encephalopathy, Acute, Infection-Induced 8	24
745	c	DYS138	Dystonia 21	23
746	c	SPS230	Spastic Paraplegia Type 49	23
747	c	ENC037	Encephalopathy, Acute, Infection-Induced 6	23
748	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	23
749	c	DYS219	Dystonia 33	23
750		ECT094	Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type	23
751	c	EPD109	Epidermolysis Bullosa Simplex 2b, Generalized Intermediate	22
752	c	AML059	Amelogenesis Imperfecta, Type Ij	22
753		FBR087	Fibromatosis, Gingival, with Distinctive Facies	22
754	c	STC012	Stickler Syndrome, Type Iv	22
755		DVL117	Developmental Delay with Dysmorphic Facies and Dental Anomalies	22
756	c	DYS214	Dystonia 31	22
757	c	EPD122	Epidermolysis Bullosa, Junctional 3b, Severe	22
758	c	ENC070	Encephalopathy, Acute, Infection-Induced 9	22
759		INT502	Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	22
760		AML004	Ameloblastic Carcinoma	22
761	c	ENC063	Encephalopathy, Acute, Infection-Induced 7	22
762	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	21
763		SBM003	Submandibular Gland Disease	21
764	c	STC020	Stickler Syndrome, Type Vi	21
765	c	RSP027	Respiratory Papillomatosis, Juvenile Recurrent, Congenital	21
766	c	KMT002	Kmt2b-Related Dystonia	21
767	c	EPD120	Epidermolysis Bullosa, Junctional 2b, Severe	21
768	c	HRD198	Hereditary Dystonia	21
769	c	EPL072	Epilepsy, Nocturnal Frontal Lobe, 3	21
770		NNP002	Nonparalytic Poliomyelitis	21
771	c	ENC062	Encephalopathy, Acute, Infection-Induced 5	21
772		EPG004	Epignathus	21
773	P	USM001	Usmani-Riazuddin Syndrome, Autosomal Dominant	21
774		HRD005	Hard Palate Cancer	21
775	c	DYS223	Dystonia 28	21
776	c	LTN015	Late-Onset Junctional Epidermolysis Bullosa	20
777	c	EPD111	Epidermolysis Bullosa Simplex 2d, Generalized, Intermediate or Severe, Autosomal Recessive	20
778		ODN020	Odontoma-Dysphagia Syndrome	20
779	c	ENC072	Encephalopathy, Acute, Infection-Induced 10	20
780	c	EPD121	Epidermolysis Bullosa, Junctional 3a, Intermediate	20
781	c	STC011	Stickler Syndrome, Type V	20
782		ORL006	Oral Mucosa Leukoplakia	20
783		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	20
784	c	EPD119	Epidermolysis Bullosa, Junctional 2a, Intermediate	19
785		STT008	Steatocystoma Multiplex with Natal Teeth	19
786	c	SPS246	Spastic Paraplegia 87, Autosomal Recessive	19
787		PLP002	Pulp Degeneration	19
788		GMC001	Gum Cancer	19
789		AML058	Amelogenesis Imperfecta, Hypomaturation Type, Iia6	19
790		16P008	16p11.2 Duplication	19
791		ALN003	Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus	18
792		AML039	Amelogenesis Imperfecta, Hypomaturation Type, Iia4	18
793		RCH003	Richieri Costa Da Silva Syndrome	18
794		CLF034	Cleft Hard Palate	18
795	c	SPS248	Spastic Paraplegia 88, Autosomal Dominant	18
796		ECT087	Ectodermal Dysplasia, Trichoodontoonychial Type	18
797	c	ANG075	Angioedema, Hereditary, 7	17
798		MGL039	Megaloblastic Anemia, Folate-Responsive	17
799		FRS011	First Branchial Cleft Anomaly	17
800	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	16
801		STP007	Staphylococcal Scarlet Fever	15
802		TTH023	Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum	15
803	c	ATS532	Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	15
804		DNT050	Dentin Dysplasia with Sclerotic Bones	15
805	c	AML063	Amelogenesis Imperfecta Type 2a1	15
806		LRY030	Larynx Atresia	15
807	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	15
808	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	15
809		CNG241	Congenital Laryngeal Palsy	14
810	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	14
811	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	14
812	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	14
813	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	14
814		FXP001	Foxp2-Related Speech and Language Disorders	14
815	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	13
816		GLS016	Glossopalatine Ankylosis	13
817		LRY034	Laryngotracheal Angioma	12
818		CLF020	Cleft Palate Stapes Fixation Oligodontia	12
819		CNG244	Congenital Laryngeal Cyst	11
820		ORL002	Oral Leukoedema	11
821		RRD025	Rare Odontogenic Tumor	10
822		FCL062	Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation	10
823	c	RRD039	Rare Dystonia	9
824	c	CNG110	Congenital Mumps	8
825	c	LRY051	Laryngotracheoesophageal Cleft Type 1	8
826	c	PRD018	Periodontitis, Aggressive, 2	8
827		ODN001	Odontoclasia	8
828		CMM016	Commissural Lip Fistula	7
829	c	LPC001	Lip Carcinoma in Situ	7
830	c	SPS040	Spastic Paraplegia 5b	7
831		RTR002	Retromolar Area Cancer	5
832	c	RRD009	Rare Disease with Dentinogenesis Imperfecta	5
833		MLF004	Malformation Syndrome with Odontal and/or Periodontal Component	3
834		CRV059	Cervicofacial Fibrochondroma	3
835		TRC122	Trichomonas Tenax Trichomoniasis	3
836		RRD007	Rare Odontal or Periodontal Disorder	3
837		PCK003	Pick Disease of Brain	71
838		EPL258	Epilepsy, Focal, with Speech Disorder and with or Without Impaired Intellectual Development	61
839		CRB151	Cerebral Creatine Deficiency Syndrome 1	56
840		VLT001	Vulto-Van Silfhout-De Vries Syndrome	40
841		CHN077	Chung-Jansen Syndrome	34
842		NRD133	Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies	32
843	c	INT472	Intellectual Developmental Disorder, Autosomal Recessive 39	29
844		PTZ001	Peutz-Jeghers Syndrome	69
845		SVR096	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	55
846		PLS025	Plasmablastic Lymphoma	48
847		RYN006	Raynaud-Claes Syndrome	42
848		INT373	Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly	38
849		INT578	Intellectual Developmental Disorder, Autosomal Dominant 30, with Speech Delay and Behavioral Abnormalities	34
850		CRB228	Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities	32
851	P	INC034	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1	32
852		WRF003	Warfarin Syndrome	31
853		DVL144	Developmental Delay, Behavioral Abnormalities, and Neuropsychiatric Disorders	17
854	P	ATT013	Attention Deficit-Hyperactivity Disorder	66
855		ELL001	Ellis-Van Creveld Syndrome	65
856		PRT037	Pertussis	64
857		CLS005	Clouston Syndrome	60
858	c	HRD202	Hereditary Lymphedema I	60
859	P	AXN002	Axenfeld-Rieger Syndrome	57
860	P	ECT006	Ectodermal Dysplasia	56
861		NNR004	Nonarteritic Anterior Ischemic Optic Neuropathy	56
862	c	ESS001	Essential Tremor	55
863	P	TRM003	Tremor	54
864		GNG005	Gangliocytoma	50
865	c	INT483	Intellectual Developmental Disorder, Autosomal Dominant 1	50
866	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	50
867	c	INT520	Intellectual Developmental Disorder, Autosomal Dominant 7	46
868	c	INT548	Intellectual Developmental Disorder, Autosomal Dominant 36	43
869	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	42
870	c	INT538	Intellectual Developmental Disorder, Autosomal Dominant 23	42
871	P	PRM327	Primary Lymphedema	40
872	c	INT539	Intellectual Developmental Disorder, Autosomal Dominant 26	39
873	c	INT536	Intellectual Developmental Disorder, Autosomal Dominant 21	39
874	c	INT533	Intellectual Developmental Disorder, Autosomal Dominant 13	39
875	c	HRD206	Hereditary Lymphedema Ii	38
876		INT372	Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	38
877	c	ATS525	Autosomal Dominant Intellectual Developmental Disorder 8	38
878	c	HRD007	Hereditary Lymphedema	38
879	c	INT542	Intellectual Developmental Disorder, Autosomal Dominant 29	37
880	c	INT516	Intellectual Developmental Disorder, Autosomal Dominant 5	37
881	c	INT547	Intellectual Developmental Disorder, Autosomal Dominant 35	37
882	c	INT513	Intellectual Developmental Disorder, Autosomal Dominant 22	36
883	c	INT453	Intellectual Developmental Disorder, Autosomal Dominant 42	36
884	c	INT455	Intellectual Developmental Disorder, Autosomal Dominant 56	35
885	c	TRM024	Tremor, Hereditary Essential, 1	35
886	c	INT550	Intellectual Developmental Disorder, Autosomal Dominant 41	34
887	c	CNG439	Congenital Lymphedema	33
888	c	INT514	Intellectual Developmental Disorder, Autosomal Dominant 3	32
889	c	INT551	Intellectual Developmental Disorder, Autosomal Dominant 43	32
890	c	INT557	Intellectual Developmental Disorder, Autosomal Dominant 48	32
891	c	TRM017	Tremor, Hereditary Essential, 4	31
892	c	INT507	Intellectual Developmental Disorder, Autosomal Recessive 5	31
893	P	ATS522	Autosomal Dominant Intellectual Developmental Disorder	31
894	c	INT555	Intellectual Developmental Disorder, Autosomal Dominant 46	30
895	c	INT549	Intellectual Developmental Disorder, Autosomal Dominant 38	30
896	c	INT537	Intellectual Developmental Disorder, Autosomal Recessive 41	30
897	c	INT546	Intellectual Developmental Disorder, Autosomal Dominant 33	29
898	c	ATS526	Autosomal Dominant Intellectual Developmental Disorder 19	29
899	c	INT556	Intellectual Developmental Disorder, Autosomal Dominant 47	29
900	c	INT521	Intellectual Developmental Disorder, Autosomal Dominant 2	29
901	c	INT505	Intellectual Developmental Disorder, Autosomal Recessive 2	29
902		BKR002	Baker-Gordon Syndrome	28
903	c	TRM022	Tremor, Hereditary Essential, 5	28
904	c	TRM020	Tremor, Hereditary Essential, 2	28
905	c	INT560	Intellectual Developmental Disorder, Autosomal Dominant 52	28
906	c	INT460	Intellectual Developmental Disorder, Autosomal Recessive 38	28
907	c	INT554	Intellectual Developmental Disorder, Autosomal Dominant 45	28
908	c	ATS527	Autosomal Dominant Intellectual Developmental Disorder 31	28
909	c	INT566	Intellectual Developmental Disorder, Autosomal Dominant 58	27
910	c	INT475	Intellectual Developmental Disorder, Autosomal Dominant 39	27
911	c	INT562	Intellectual Developmental Disorder, Autosomal Dominant 54	27
912	c	INT563	Intellectual Developmental Disorder, Autosomal Dominant 57	27
913	c	INT517	Intellectual Developmental Disorder, Autosomal Recessive 13	27
914	c	INT535	Intellectual Developmental Disorder, Autosomal Recessive 37	27
915	c	ATS523	Autosomal Recessive Intellectual Developmental Disorder	26
916	c	INT393	Intellectual Developmental Disorder, Autosomal Dominant 64	26
917	c	INT558	Intellectual Developmental Disorder, Autosomal Recessive 61	26
918	c	INT515	Intellectual Developmental Disorder, Autosomal Dominant 4	26
919	c	INT561	Intellectual Developmental Disorder, Autosomal Dominant 53	26
920	c	TRM029	Tremor, Hereditary Essential, 6	26
921	c	INT544	Intellectual Developmental Disorder, Autosomal Recessive 46	25
922	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	25
923	c	INT567	Intellectual Developmental Disorder, Autosomal Recessive 65	25
924	c	INT508	Intellectual Developmental Disorder, Autosomal Recessive 7	25
925	c	INT388	Intellectual Developmental Disorder, Autosomal Dominant 62	25
926	c	INT348	Intellectual Developmental Disorder, Autosomal Recessive 71	24
927	c	INT506	Intellectual Developmental Disorder, Autosomal Recessive 3	24
928	c	INT523	Intellectual Developmental Disorder, Autosomal Dominant 10	24
929	c	ATS524	Autosomal Dominant Intellectual Developmental Disorder 6	24
930	c	INT471	Intellectual Developmental Disorder, Autosomal Recessive 27	24
931	c	INT344	Intellectual Developmental Disorder, Autosomal Recessive 69	24
932	c	INT336	Intellectual Developmental Disorder, Autosomal Recessive 68	24
933	c	INT478	Intellectual Developmental Disorder, Autosomal Recessive 57	24
934	c	INT559	Intellectual Developmental Disorder, Autosomal Dominant 51	24
935	c	INT479	Intellectual Developmental Disorder, Autosomal Recessive 58	24
936	c	INT477	Intellectual Developmental Disorder, Autosomal Recessive 74	24
937	c	HRD204	Hereditary Lymphedema Ia	24
938	c	INT335	Intellectual Developmental Disorder, Autosomal Recessive 67	23
939	c	INT462	Intellectual Developmental Disorder, Autosomal Dominant 34	23
940	c	INT540	Intellectual Developmental Disorder, Autosomal Recessive 44	23
941	c	INT484	Intellectual Developmental Disorder, Autosomal Recessive 1	23
942	c	INT364	Intellectual Developmental Disorder, Autosomal Recessive 72	23
943	c	INT468	Intellectual Developmental Disorder, Autosomal Recessive 66	23
944	c	HRD100	Hereditary Lymphedema Ic	23
945	c	ATS529	Autosomal Dominant Intellectual Developmental Disorder 40	22
946	c	INT398	Intellectual Developmental Disorder, Autosomal Recessive 12	22
947	c	INT452	Intellectual Developmental Disorder, Autosomal Recessive 6	22
948	c	INT575	Intellectual Developmental Disorder, Autosomal Dominant 67	22
949	c	INT519	Intellectual Developmental Disorder, Autosomal Recessive 14	22
950	c	INT474	Intellectual Developmental Disorder, Autosomal Recessive 43	22
951	c	INT553	Intellectual Developmental Disorder, Autosomal Recessive 60	21
952	c	INT480	Intellectual Developmental Disorder, Autosomal Recessive 73	21
953	c	INT565	Intellectual Developmental Disorder, Autosomal Recessive 64	21
954	c	INT386	Intellectual Developmental Disorder, Autosomal Dominant 59	21
955	c	INT577	Intellectual Developmental Disorder, Autosomal Dominant 68	21
956	c	INT579	Intellectual Developmental Disorder, Autosomal Recessive 77	21
957	c	INT573	Intellectual Developmental Disorder, Autosomal Dominant 66	21
958	c	INT464	Intellectual Developmental Disorder, Autosomal Recessive 51	21
959	c	INT534	Intellectual Developmental Disorder, Autosomal Recessive 35	20
960	c	TRM016	Tremor, Hereditary Essential, 3	20
961	c	INT564	Intellectual Developmental Disorder, Autosomal Recessive 63	20
962	c	ECT114	Ectodermal Dysplasia 10b	20
963	c	INT512	Intellectual Developmental Disorder, Autosomal Recessive 4	19
964	c	INT467	Intellectual Developmental Disorder, Autosomal Recessive 56	19
965	c	INT461	Intellectual Developmental Disorder, Autosomal Recessive 47	18
966	c	INT576	Intellectual Developmental Disorder, Autosomal Recessive 76	18
967	c	INT541	Intellectual Developmental Disorder, Autosomal Recessive 45	18
968	c	INT509	Intellectual Developmental Disorder, Autosomal Recessive 9	18
969	c	INT463	Intellectual Developmental Disorder, Autosomal Recessive 50	18
970	c	INT466	Intellectual Developmental Disorder, Autosomal Recessive 54	18
971	c	INT465	Intellectual Developmental Disorder, Autosomal Recessive 52	17
972	c	INT531	Intellectual Developmental Disorder, Autosomal Recessive 25	17
973	c	INT510	Intellectual Developmental Disorder, Autosomal Recessive 10	17
974	c	INT552	Intellectual Developmental Disorder, Autosomal Recessive 59	17
975	c	INT527	Intellectual Developmental Disorder, Autosomal Recessive 30	16
976	c	INT526	Intellectual Developmental Disorder, Autosomal Recessive 33	16
977	c	INT530	Intellectual Developmental Disorder, Autosomal Recessive 24	16
978	c	INT525	Intellectual Developmental Disorder, Autosomal Recessive 29	16
979	c	INT522	Intellectual Developmental Disorder, Autosomal Recessive 16	15
980	c	INT532	Intellectual Developmental Disorder, Autosomal Recessive 28	15
981	c	INT529	Intellectual Developmental Disorder, Autosomal Recessive 23	15
982	c	INT572	Intellectual Developmental Disorder, Autosomal Dominant 69	15
983	c	ECT117	Ectodermal Dysplasia 14	14
984	c	ATT025	Attention Deficit-Hyperactivity Disorder 8	14
985	c	INT524	Intellectual Developmental Disorder, Autosomal Recessive 31	14
986	c	INT511	Intellectual Developmental Disorder, Autosomal Recessive 11	14
987	c	INT528	Intellectual Developmental Disorder, Autosomal Recessive 19	14
988	c	ATT021	Attention Deficit-Hyperactivity Disorder 3	13
989	c	HRD203	Hereditary Lymphedema Id	13
990	c	ATT020	Attention Deficit-Hyperactivity Disorder 2	12
991	c	GJC002	Gjc2-Related Late-Onset Primary Lymphedema	12
992	c	ATT019	Attention Deficit-Hyperactivity Disorder 1	12
993	c	ATT022	Attention Deficit-Hyperactivity Disorder 4	11
994	c	HRD205	Hereditary Lymphedema Ib	6
995	c	CLS057	Celsr1-Related Late-Onset Primary Lymphedema	6
996	c	ATS531	Autosomal Recessive Intellectual Developmental Disorder 75	6
997	c	ATS530	Autosomal Recessive Intellectual Developmental Disorder 34	5
998	c	RRT014	Rare Tremor Disorder	4
999	P	ATS364	Autism	74
1000	P	LVR013	Liver Disease	71
1001	c	ATS007	Autism Spectrum Disorder	70
1002	P	OCL013	Oculodentodigital Dysplasia	67
1003	c	CNG411	Congenital Disorder of Glycosylation, Type in	67
1004		SVR066	Severe Combined Immunodeficiency, X-Linked	66
1005		TYP007	Typhoid Fever	64
1006	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	61
1007	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	59
1008	P	KHL003	Kohlschutter-Tonz Syndrome	57
1009	P	FTL001	Fetal Alcohol Syndrome	57
1010	c	ACT134	Acute Liver Failure	57
1011	P	AML002	Amelogenesis Imperfecta	55
1012		DNT012	Dental Caries	54
1013	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	52
1014	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	52
1015		EPT010	Epithelial-Myoepithelial Carcinoma	51
1016	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	51
1017		ANK020	Ankyloglossia with or Without Tooth Anomalies	50
1018		DYG001	Dyggve-Melchior-Clausen Disease	50
1019	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	49
1020		SLD003	Sialadenitis	49
1021	c	CNG199	Congenital Disorder of Glycosylation, Type Im	49
1022	c	HYP575	Hypotrichosis 7	49
1023	P	LRY029	Laryngomalacia	49
1024	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	48
1025	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	48
1026	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	47
1027	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	47
1028	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	47
1029	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	47
1030	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	46
1031	P	HYP776	Hyperparathyroidism, Neonatal Severe	46
1032	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	46
1033	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	45
1034	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	45
1035	c	INF145	Infantile Liver Failure Syndrome 1	45
1036	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	45
1037	P	SYN075	Syngnathia	45
1038		HMN048	Human Papillomavirus Infectious Disease	44
1039	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	44
1040		CKS001	Ck Syndrome	44
1041		VRR004	Verrucous Carcinoma	44
1042	c	CNG198	Congenital Disorder of Glycosylation, Type Il	42
1043		GGR001	Geographic Tongue	42
1044	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	42
1045	c	AML057	Amelogenesis Imperfecta, Type Iiia	42
1046	c	CNG379	Congenital Disorder of Glycosylation, Type It	42
1047	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	42
1048	c	FTL006	Fetal Alcohol Spectrum Disorder	42
1049		TNG004	Tongue Disease	41
1050	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	41
1051		48X005	48,xyyy	41
1052	c	CNG195	Congenital Disorder of Glycosylation, Type Id	41
1053	c	PCH012	Pachyonychia Congenita 2	41
1054		OKR001	Okur-Chung Neurodevelopmental Syndrome	41
1055	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	40
1056	P	HYP087	Hypotrichosis	40
1057	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	40
1058		DNT001	Dental Fluorosis	40
1059		VTM009	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1	40
1060	c	HYP525	Hypotrichosis 2	40
1061	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	40
1062	c	LVR030	Liver Failure, Infantile, Transient	40
1063	c	HYP581	Hypotrichosis 6	40
1064	P	DNT009	Dentin Dysplasia	39
1065	c	HYP559	Hypotrichosis 8	39
1066		ORL019	Oral Hairy Leukoplakia	39
1067	P	SNG014	Singleton-Merten Syndrome	39
1068	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	37
1069	c	DNT051	Dentin Dysplasia, Type I	37
1070	c	OST109	Osteogenesis Imperfecta, Type Xiv	37
1071		PRT009	Parotid Gland Cancer	37
1072	P	TTH010	Tooth Agenesis, Selective, 1	37
1073	c	EPD123	Epidermolysis Bullosa, Junctional 4, Intermediate	36
1074	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	36
1075	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	36
1076	c	HYP507	Hypotrichosis 1	36
1077	c	CNG188	Congenital Disorder of Glycosylation, Type if	35
1078	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	35
1079		FSS001	Fissured Tongue	35
1080	c	OST123	Osteogenesis Imperfecta, Type Xiii	34
1081	c	DNT027	Dentin Dysplasia, Type Ii	34
1082		PTL001	Patulous Eustachian Tube	34
1083		BLP051	Blepharophimosis-Impaired Intellectual Development Syndrome	34
1084	c	DVL090	Developmental and Epileptic Encephalopathy 66	34
1085	c	HYP577	Hypotrichosis 13	34
1086	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	34
1087	c	SNG011	Singleton-Merten Syndrome 1	33
1088		LRY047	Laryngeal Abductor Paralysis	33
1089	c	HYP576	Hypotrichosis 4	33
1090		MMM007	Mammary Analogue Secretory Carcinoma	32
1091		ATR073	Atrophic Glossitis	32
1092	c	INF194	Infantile Liver Failure Syndrome	31
1093	c	INF138	Infantile Liver Failure Syndrome 2	31
1094		TTH001	Tooth Ankylosis	30
1095	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	29
1096		NRD091	Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures	29
1097		THY106	Thyroglossal Duct Cyst, Familial	29
1098		BCL016	B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations	28
1099	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	28
1100	c	HYP528	Hypotrichosis 11	28
1101	c	CNG626	Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive	27
1102		RMN002	Ramon Syndrome	27
1103		OCL073	Oculoskeletodental Syndrome	27
1104	c	HYP578	Hypotrichosis 12	27
1105	c	CNG623	Congenital Disorder of Glycosylation, Type Iiw	26
1106		NZN001	Nizon-Isidor Syndrome	26
1107	c	HYP831	Hyperparathyroidism, Transient Neonatal	26
1108		NRD109	Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies	26
1109	c	CNG622	Congenital Disorder of Glycosylation, Type 2v	26
1110	c	LVR033	Liver Disease, Severe Congenital	25
1111	c	ATS370	Autism 3	25
1112	c	INF190	Infantile Liver Failure Syndrome 3	25
1113		HRY002	Hairy Tongue	25
1114	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	25
1115		MRB008	Marbach-Schaaf Neurodevelopmental Syndrome	24
1116	c	CNG627	Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant	24
1117	c	INT385	Intellectual Developmental Disorder, Autosomal Dominant 61	24
1118		SBL001	Sublingual Gland Cancer	24
1119		NRD135	Neurodevelopmental Disorder with Hypotonia and Brain Abnormalities	24
1120		NRD118	Neurodevelopmental Disorder with or Without Autism or Seizures	24
1121	c	SNG012	Singleton-Merten Syndrome 2	24
1122		CHL189	Chilton-Okur-Chung Neurodevelopmental Syndrome	24
1123		INT570	Intellectual Developmental Disorder with Language Impairment and with or Without Autistic Features	24
1124	c	EPD108	Epidermolysis Bullosa Simplex 2a, Generalized Severe	23
1125		SCH031	Scholte Syndrome	23
1126		HTT003	Hiatt-Neu-Cooper Neurodevelopmental Syndrome	23
1127		NRD140	Neurodevelopmental Disorder with Impaired Language and Ataxia and with or Without Seizures	23
1128	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	23
1129		CLF051	Cleft Larynx, Posterior	23
1130	c	DYS216	Dystonia 32	23
1131	c	ATS376	Autism 15	22
1132	c	ATS474	Autism 20	22
1133	c	ATS369	Autism 8	22
1134	c	HYP832	Hypotrichosis 14	21
1135		TRC114	Trichodental Dysplasia	21
1136		AMP011	Ampola Syndrome	21
1137	c	HYP573	Hypotrichosis 5	20
1138	c	ATS378	Autism 17	20
1139	c	ATS377	Autism 16	20
1140	c	ACQ070	Acquired Laryngomalacia	20
1141		LWR001	Lower Lip Cancer	20
1142		UPN001	Upington Disease	19
1143		PLY134	Polydactyly, Postaxial, with Dental and Vertebral Anomalies	19
1144		UPP002	Upper Lip Cancer	18
1145	c	ATS371	Autism 6	18
1146		CRT079	Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta	17
1147		49X005	49, Xxxyy Syndrome	17
1148		EPL170	Epilepsy-Aphasia Spectrum	17
1149		ODN021	Odontotrichoungual-Digital-Palmar Syndrome	16
1150	c	ATS170	Autism 19	16
1151	c	ATS372	Autism 7	16
1152	c	ATS374	Autism 12	15
1153	c	HYP551	Hypotrichosis 9	15
1154	c	HYP544	Hypotrichosis 10	15
1155	c	ATS172	Autism 10	15
1156	c	ATS171	Autism 9	15
1157		FRT004	Fourth Branchial Cleft Anomaly	14
1158	c	ATS373	Autism 11	14
1159	c	ATS375	Autism 13	14
1160		THY010	Thymus Mucoepidermoid Carcinoma	14
1161		ODN004	Odonto Onycho Dysplasia with Alopecia	13
1162		LRY054	Larynx Anomaly	12
1163		CRV060	Cervical Dermoid Cyst	12
1164	P	PCH020	Pachyonychia Congenita, Autosomal Recessive	11
1165		BRN115	Bronchus Mucoepidermoid Carcinoma	10
1166		ERY052	Erythrokeratodermia-Cardiomyopathy Syndrome	10
1167		TRC108	Trichodysplasia-Amelogenesis Imperfecta Syndrome	9
1168	c	CNG628	Congenital Disorder of Glycosylation Iw	9
1169		LWR002	Lower Gum Cancer	8
1170		LNR018	Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies	8
1171		3Q2005	3q26q27 Microdeletion Syndrome	7
1172		BNG007	Benign Lymphoepithelial Lesion of Salivary Gland	7
1173	c	RRD010	Rare Disease with Autism	7
1174		UPP003	Upper Gum Cancer	7
1175	P	DSR041	Disorder of Multiple Glycosylation	6
1176		FCL034	Facial Dermoid Cyst	6
1177		LWR011	Lower Lip Fistula	6
1178		PRM134	Primary Laryngeal Lymphangioma	5
1179	c	OCL037	Oculodentodigital Dysplasia Dominant	5
1180		CYS048	Cysts and Fistulae of the Face and Oral Cavity	4
1181	c	SYN028	Syngnathia Multiple Anomalies	4
1182		RRD058	Rare Disease with Odontological Manifestation	3
1183	P	LCH002	Lichen Planus	54
1184		FCL010	Focal Epithelial Hyperplasia	38
1185		ATM008	Autoimmune Disease of Eyes, Ear, Nose and Throat	30
1186	c	RRL001	Rare Lichen Planus	12
1187	c	LCH017	Lichen Planus, Familial	12
1188	P	LKN033	Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1	63
1189		APL002	Aplasia of Lacrimal and Salivary Glands	59
1190	P	MND003	Mandibuloacral Dysplasia with Type a Lipodystrophy	51
1191	c	LKN034	Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2	22
1192	P	HNT016	Huntington Disease	72
1193	c	HPT073	Hepatitis C Virus	70
1194	c	CLD021	Cleidocranial Dysplasia 1	66
1195	P	HPT021	Hepatitis	65
1196	P	TTH002	Tooth Agenesis	63
1197	c	HPT001	Hepatitis C	63
1198	c	HPT016	Hepatitis B	63
1199	c	HPT003	Hepatitis a	62
1200	c	ATM011	Autoimmune Hepatitis	62
1201	P	NSP012	Nasopharyngeal Carcinoma	62
1202	c	HPT015	Hepatitis D	60
1203		ADL030	Adult-Onset Still's Disease	59
1204	c	OTP006	Otopalatodigital Syndrome, Type I	59
1205		LYM004	Lymphoid Interstitial Pneumonia	58
1206		ORL004	Oral Submucous Fibrosis	56
1207		APH001	Aphthous Stomatitis	56
1208	c	AML044	Amelogenesis Imperfecta, Type Ig	55
1209	P	DRR001	Diarrhea	55
1210		TNG007	Tongue Carcinoma	54
1211	c	VRL010	Viral Hepatitis	53
1212	c	HPT007	Hepatitis E	52
1213	P	VND002	Van Der Woude Syndrome	52
1214		SLV012	Salivary Gland Adenoid Cystic Carcinoma	51
1215	c	HNT004	Huntington Disease-Like 2	49
1216		ORL015	Oral Squamous Cell Carcinoma	49
1217		GLS007	Glossitis	48
1218		AML029	Ameloblastoma	47
1219	P	HYP769	Hyperlysinemia, Type I	47
1220	P	TRC005	Tracheal Stenosis	46
1221		CHL012	Childhood Disintegrative Disease	46
1222	c	HNT010	Huntington Disease-Like 1	46
1223	P	EPL196	Epilepsy, Familial Focal, with Variable Foci 1	46
1224		JLL001	Jalili Syndrome	46
1225	P	ORL007	Oral Cavity Cancer	46
1226		MCP033	Mucopolysaccharidoses	44
1227		SLV003	Salivary Gland Disease	42
1228		HYP187	Hypertryptophanemia	42
1229		CHR704	Chromosome 16p11.2 Deletion Syndrome	40
1230	P	LPC002	Lip Cancer	40
1231		FLR007	Failure of Tooth Eruption, Primary	39
1232	c	VND007	Van Der Woude Syndrome 1	39
1233	c	AML061	Amelogenesis Imperfecta, Type Ie	38
1234		PLT007	Palatopharyngeal Incompetence	37
1235	c	ZMM002	Zimmermann-Laband Syndrome 1	37
1236		KKC001	Kikuchi Disease	37
1237	c	ACT004	Acute Diarrhea	36
1238	P	FML333	Familial Behcet-Like Autoinflammatory Syndrome	36
1239		NM001	Noma	35
1240	c	HNT011	Huntington Disease-Like 3	35
1241		ODN025	Odontochondrodysplasia 1	34
1242	c	INF002	Inflammatory Diarrhea	34
1243	c	CNG370	Congenital Tracheal Stenosis	34
1244		PLM009	Pleomorphic Adenoma Carcinoma	33
1245	P	OTP008	Otopalatodigital Syndrome Spectrum Disorder	33
1246		PRL013	Paralytic Poliomyelitis	33
1247	P	ZMM001	Zimmermann-Laband Syndrome	33
1248		ALC002	Alcohol-Related Neurodevelopmental Disorder	32
1249	c	DRR009	Diarrhea 6	32
1250	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	31
1251		HYP728	Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia	29
1252		SPN133	Spondyloepimetaphyseal Dysplasia with Multiple Dislocations	29
1253	c	CNG478	Congenital Diarrhea	29
1254		DNT044	Dentinogenesis Imperfecta, Shields Type Iii	28
1255	c	JVN015	Juvenile Huntington Disease	28
1256		DMN026	Dementia Pugilistica	28
1257	c	EPL192	Epilepsy, Familial Focal, with Variable Foci 3	28
1258		FLR003	Florid Cemento-Osseous Dysplasia	28
1259		HYP643	Hypohidrotic Ectodermal Dysplasia with Immunodeficiency	28
1260	c	CFF012	Coffin-Siris Syndrome 7	27
1261		MLN001	Melanotic Neuroectodermal Tumor	27
1262		INT369	Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type	27
1263		MYT019	May-Thurner Syndrome	26
1264		PRM288	Permanent Molars, Secondary Retention of	26
1265		VSS003	Vissers-Bodmer Syndrome	26
1266		HYP049	Hypertrophy of Tongue Papillae	26
1267		SHK002	Shukla-Vernon Syndrome	26
1268		RDT018	Radio-Tartaglia Syndrome	25
1269	c	VND004	Van Der Woude Syndrome 2	25
1270		FBR088	Fibromatosis, Gingival, with Progressive Deafness	25
1271	c	DRR018	Diarrhea 9	25
1272		MCD002	Mcdonough Syndrome	25
1273		LRY046	Laryngeal Web, Familial	25
1274	c	CHR465	Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity	25
1275		DRM041	Dermoid Cysts, Familial Frontonasal	25
1276		LRY028	Laryngocele	25
1277		SBM004	Submandibular Gland Cancer	24
1278		ORL029	Oral Rhabdomyosarcoma	24
1279	c	INT400	Intellectual Developmental Disorder, Autosomal Dominant 65	24
1280		NRD116	Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy	24
1281	c	ATN028	Autoinflammatory Syndrome, Familial, Behcet-Like 1	24
1282		NRD085	Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures	24
1283	c	INT345	Intellectual Developmental Disorder, Autosomal Recessive 70	23
1284		PRT100	Parotid Gland Adenoid Cystic Carcinoma	23
1285	c	ZMM003	Zimmermann-Laband Syndrome 2	23
1286		CTF001	Catifa Syndrome	23
1287		INT568	Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly	22
1288	c	ZMM004	Zimmermann-Laband Syndrome 3	22
1289	c	CLD022	Cleidocranial Dysplasia 2	21
1290		LCR002	Lacrimal Gland Mucoepidermoid Carcinoma	21
1291		BRN151	Brunet-Wagner Neurodevelopmental Syndrome	20
1292		LRY003	Laryngeal Mucoepidermoid Carcinoma	20
1293	c	ATM112	Autoimmune Hepatitis Type 1	20
1294	c	NSP015	Nasopharyngeal Carcinoma 3	20
1295	c	HNT013	Huntington Disease-Like Syndrome	19
1296	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	19
1297		CNG243	Congenital Subglottic Stenosis	18
1298	c	ATM111	Autoimmune Hepatitis Type 2	18
1299	c	NSP009	Nasopharyngeal Carcinoma 2	18
1300		SGM006	Segmental Odontomaxillary Dysplasia	16
1301		MGC006	Magic Syndrome	15
1302	c	HNT014	Huntington Disease-Like Syndrome Due to C9orf72 Expansions	15
1303	P	LRY049	Laryngotracheoesophageal Cleft Type 4	14
1304	P	CLD018	Cleidocranial Dysplasia, Recessive Form	14
1305		LTN031	Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Sy	12
1306		DNT049	Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	12
1307	c	HYP770	Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria	11
1308		DGS006	Digestive Duplication Cyst of the Tongue	11
1309		PYR042	Pyramidal Molars-Abnormal Upper Lip Syndrome	10
1310	c	NNS127	Nonsyndromic Tooth Agenesis	9
1311		CHK002	Cheek Mucosa Cancer	9
1312	c	ORL001	Oral Cavity Carcinoma in Situ	8
1313		UVL001	Uvula Cancer	7
1314		VST002	Vestibule of Mouth Cancer	6
1315		NSL027	Nasal Dorsum Fistula	6
1316		TRC090	Trachea Mucoepidermoid Carcinoma	4
1317	P	HRP006	Herpes Simplex	64
1318	P	OSS001	Ossifying Fibroma	37
1319	c	CNG100	Congenital Herpes Simplex	34
1320	c	JVN045	Juvenile Ossifying Fibroma	15
1321		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	59
1322	c	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	69
1323		OBS002	Obsessive-Compulsive Disorder	67
1324	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	67
1325	P	OST135	Osteogenesis Imperfecta, Type I	64
1326		INC021	Incontinentia Pigmenti	63
1327		LCR014	Lacrimoauriculodentodigital Syndrome	61
1328	c	HYP293	Hypophosphatasia, Adult	60
1329		AVN001	Avian Influenza	60
1330	c	OST122	Osteogenesis Imperfecta, Type Iii	59
1331		PMP006	Pemphigus Vulgaris, Familial	59
1332	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	59
1333	c	OST080	Osteogenesis Imperfecta, Type Ii	58
1334		HYL004	Hyaline Fibromatosis Syndrome	57
1335	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	56
1336		ORL005	Oral Candidiasis	55
1337		CFF003	Caffey Disease	55
1338	c	KLF004	Kleefstra Syndrome 1	54
1339	c	OST132	Osteogenesis Imperfecta, Type Vi	54
1340	c	OST121	Osteogenesis Imperfecta, Type Iv	54
1341	P	CRB154	Cerebrocostomandibular Syndrome	53
1342		GNG004	Ganglioglioma	53
1343		DNT045	Dental Anomalies and Short Stature	53
1344		HRP009	Herpes Simplex Encephalitis	52
1345		HYP082	Hypopharynx Cancer	51
1346	P	SLV026	Salivary Gland Carcinoma	50
1347	P	KLF001	Kleefstra Syndrome	49
1348		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	49
1349	c	OST119	Osteogenesis Imperfecta, Type Vii	48
1350	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	47
1351	P	SPN448	Spondyloepimetaphyseal Dysplasia with Joint Laxity	47
1352		IMM275	Immunodeficiency 104	47
1353	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	47
1354	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	47
1355		AND001	Anodontia	46
1356	c	OST133	Osteogenesis Imperfecta, Type Xi	45
1357		TNG009	Tongue Squamous Cell Carcinoma	45
1358	c	OST118	Osteogenesis Imperfecta, Type Viii	44
1359	c	DNT025	Dentinogenesis Imperfecta 1	44
1360	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	43
1361		GPS001	Gapo Syndrome	43
1362	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	42
1363	c	OST124	Osteogenesis Imperfecta, Type V	42
1364		CPL002	Capillary Lymphangioma	42
1365	c	OST110	Osteogenesis Imperfecta, Type Xv	40
1366	c	KLF005	Kleefstra Syndrome 2	39
1367		EPD117	Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous	39
1368	c	OST130	Osteogenesis Imperfecta, Type Ix	39
1369	c	OST128	Osteogenesis Imperfecta, Type Xii	37
1370	c	OST178	Osteogenesis Imperfecta, Type Xxi	37
1371		BKS003	Beukes Hip Dysplasia	37
1372	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	36
1373	c	OST170	Osteogenesis Imperfecta, Type Xix	36
1374	c	OST127	Osteogenesis Imperfecta, Type X	36
1375		INT585	Intermediate Generalized Junctional Epidermolysis Bullosa	35
1376	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	35
1377	c	OST169	Osteogenesis Imperfecta, Type Xviii	33
1378	c	OST176	Osteogenesis Imperfecta, Type Xx	32
1379		SKN024	Skin Fragility-Woolly Hair Syndrome	32
1380	c	DFN331	Deafness, Congenital, with Onychodystrophy, Autosomal Dominant	32
1381		OLG005	Oligodontia-Colorectal Cancer Syndrome	30
1382	c	OST139	Osteogenesis Imperfecta, Type Xvi	30
1383	c	OST138	Osteogenesis Imperfecta, Type Xvii	29
1384		ATN027	Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	28
1385		CNC020	Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma	27
1386		WSM003	Weismann-Netter Syndrome	27
1387		APR009	Aprosencephaly Syndrome	27
1388		FCL088	Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome	26
1389	c	INT545	Intellectual Developmental Disorder, Autosomal Recessive 48	26
1390		HYP814	Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency	26
1391		BLD005	Bile Duct Mucoepidermoid Carcinoma	25
1392	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	25
1393	c	SPN434	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3	24
1394		DRM023	Dermoodontodysplasia	22
1395		SLV032	Salivary Gland Mucinous Adenocarcinoma	22
1396		SBL007	Sublingual Gland Adenoid Cystic Carcinoma	22
1397	c	OST180	Osteogenesis Imperfecta, Type Xxii	21
1398		RTH002	Rutherfurd Syndrome	21
1399		PLD002	Pilodental Dysplasia with Refractive Errors	20
1400		CPP001	Copper Deficiency, Familial Benign	20
1401		ECT069	Ectodermal Dysplasia 8, Hair/tooth/nail Type	20
1402		PNH003	Pinheiro Freire-Maia Miranda Syndrome	19
1403		DFN311	Deafness-Craniofacial Syndrome	18
1404		DFN307	Deafness-Oligodontia Syndrome	18
1405		CRL002	Curly Hair-Acral Keratoderma-Caries Syndrome	18
1406		ECT091	Ectodermal Dysplasia with Natal Teeth, Turnpenny Type	17
1407		ODN008	Odontomicronychial Dysplasia	17
1408	P	DFN296	Deafness-Onychodystrophy Syndrome	15
1409		TRC057	Trichoodontoonychial Dysplasia	13
1410	c	ATS273	Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy	7
1411	c	CRB078	Cerebrocostomandibular-Like Syndrome	7
1412	P	ATS271	Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy	5
1413	c	SLV006	Salivary Gland Cancer, Adult	3
1414	P	PHR004	Pharynx Cancer	46
1415		PSD001	Pseudobulbar Palsy	41
1416	c	DVL042	Developmental and Epileptic Encephalopathy 14	62
1417	c	DVL030	Developmental and Epileptic Encephalopathy 36	61
1418	c	OTP007	Otopalatodigital Syndrome, Type Ii	61
1419		BRN045	Brunner Syndrome	59
1420	c	DVL033	Developmental and Epileptic Encephalopathy 1	57
1421		BRN009	Burning Mouth Syndrome	56
1422	P	EPD116	Epidermolysis Bullosa, Junctional 5b, with Pyloric Atresia	56
1423	c	DVL038	Developmental and Epileptic Encephalopathy 7	54
1424	P	DNT011	Dentinogenesis Imperfecta	54
1425		CRD180	Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma	54
1426	c	DVL029	Developmental and Epileptic Encephalopathy 2	53
1427	c	DVL027	Developmental and Epileptic Encephalopathy 9	52
1428		MCP006	Mucoepidermoid Carcinoma	52
1429	P	DVL113	Developmental and Epileptic Encephalopathy	51
1430	c	DVL041	Developmental and Epileptic Encephalopathy 13	50
1431	P	BLP047	Blepharocheilodontic Syndrome 1	50
1432	c	DVL035	Developmental and Epileptic Encephalopathy 4	47
1433	c	ANG071	Angioedema, Hereditary, 3	47
1434		TRC118	Trichodentoosseous Syndrome	46
1435	c	DVL118	Developmental and Epileptic Encephalopathy 94	46
1436	c	DVL048	Developmental and Epileptic Encephalopathy 21	45
1437	c	DVL039	Developmental and Epileptic Encephalopathy 11	45
1438	c	DVL056	Developmental and Epileptic Encephalopathy 30	44
1439		ANH004	Anhidrosis, Isolated, with Normal Sweat Glands	44
1440	c	DVL068	Developmental and Epileptic Encephalopathy 43	44
1441	c	DVL099	Developmental and Epileptic Encephalopathy 75	43
1442	c	DVL067	Developmental and Epileptic Encephalopathy 42	43
1443	c	DVL044	Developmental and Epileptic Encephalopathy 16	43
1444	c	DVL077	Developmental and Epileptic Encephalopathy 53	42
1445	c	DVL076	Developmental and Epileptic Encephalopathy 52	42
1446	P	INT399	Intellectual Developmental Disorder, X-Linked 109	42
1447	c	DVL037	Developmental and Epileptic Encephalopathy 5	42
1448	c	DVL049	Developmental and Epileptic Encephalopathy 23	42
1449	c	DVL062	Developmental and Epileptic Encephalopathy 35	42
1450	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	41
1451	c	DVL072	Developmental and Epileptic Encephalopathy 47	41
1452	c	DVL100	Developmental and Epileptic Encephalopathy 76	40
1453	c	DVL045	Developmental and Epileptic Encephalopathy 17	40
1454	c	DVL064	Developmental and Epileptic Encephalopathy 38	40
1455	c	DVL034	Developmental and Epileptic Encephalopathy 3	39
1456	c	DVL061	Developmental and Epileptic Encephalopathy 34	39
1457	c	DVL098	Developmental and Epileptic Encephalopathy 74	39
1458	c	DVL028	Developmental and Epileptic Encephalopathy 8	39
1459		WST002	Western Equine Encephalitis	39
1460	c	DVL040	Developmental and Epileptic Encephalopathy 12	39
1461	c	DVL103	Developmental and Epileptic Encephalopathy 80	39
1462	c	MCL059	Macular Dystrophy, Patterned, 1	38
1463	c	DVL073	Developmental and Epileptic Encephalopathy 48	38
1464	c	DVL109	Developmental and Epileptic Encephalopathy 87	38
1465	c	DVL060	Developmental and Epileptic Encephalopathy 50	38
1466	c	STC013	Stickler Syndrome, Type Ii	38
1467	c	DVL053	Developmental and Epileptic Encephalopathy 27	38
1468	c	DVL043	Developmental and Epileptic Encephalopathy 15	38
1469	c	DVL055	Developmental and Epileptic Encephalopathy 29	37
1470	c	DVL078	Developmental and Epileptic Encephalopathy 54	36
1471		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	36
1472	c	DVL079	Developmental and Epileptic Encephalopathy 55	36
1473	c	DVL069	Developmental and Epileptic Encephalopathy 44	36
1474	c	DVL097	Developmental and Epileptic Encephalopathy 73	36
1475	c	INT414	Intellectual Developmental Disorder, X-Linked 29	35
1476	c	INT446	Intellectual Developmental Disorder, X-Linked 1	35
1477	c	INT403	Intellectual Developmental Disorder, X-Linked 21	34
1478	c	DVL054	Developmental and Epileptic Encephalopathy 28	34
1479	c	DVL059	Developmental and Epileptic Encephalopathy 33	34
1480	c	DVL057	Developmental and Epileptic Encephalopathy 31	34
1481	c	DVL089	Developmental and Epileptic Encephalopathy 65	33
1482	c	MCL070	Macular Dystrophy, Patterned, 3	33
1483	c	DVL084	Developmental and Epileptic Encephalopathy 60	33
1484	c	INT430	Intellectual Developmental Disorder, X-Linked 98	32
1485	c	INT342	Intellectual Developmental Disorder, X-Linked 108	32
1486		SHH004	Shaheen Syndrome	32
1487	c	DVL046	Developmental and Epileptic Encephalopathy 18	32
1488	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	32
1489	c	DVL129	Developmental and Epileptic Encephalopathy 25	31
1490	c	DVL119	Developmental and Epileptic Encephalopathy 6b	31
1491		OTD001	Otodental Dysplasia	31
1492	c	MCL071	Macular Dystrophy, Patterned, 2	31
1493	c	DVL114	Developmental and Epileptic Encephalopathy 91	31
1494	c	INT419	Intellectual Developmental Disorder, X-Linked 30	30
1495	c	DVL063	Developmental and Epileptic Encephalopathy 37	30
1496	c	DVL107	Developmental and Epileptic Encephalopathy 84	30
1497	c	INT425	Intellectual Developmental Disorder, X-Linked 19	30
1498	c	DVL058	Developmental and Epileptic Encephalopathy 32	28
1499	c	INT434	Intellectual Developmental Disorder, X-Linked 12	28
1500	c	DVL071	Developmental and Epileptic Encephalopathy 46	28
1501	c	DVL112	Developmental and Epileptic Encephalopathy 89	28
1502	c	DVL066	Developmental and Epileptic Encephalopathy 41	27
1503	c	DVL094	Developmental and Epileptic Encephalopathy 70	27
1504	c	DVL093	Developmental and Epileptic Encephalopathy 69	27
1505	c	DVL120	Developmental and Epileptic Encephalopathy 95	27
1506	c	DVL086	Developmental and Epileptic Encephalopathy 62	27
1507	c	DVL088	Developmental and Epileptic Encephalopathy 64	27
1508	c	DVL074	Developmental and Epileptic Encephalopathy 49	27
1509	c	DVL116	Developmental and Epileptic Encephalopathy 93	27
1510	c	INT420	Intellectual Developmental Disorder, X-Linked 93	27
1511	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	27
1512	c	DVL047	Developmental and Epileptic Encephalopathy 19	27
1513	c	INT431	Intellectual Developmental Disorder, X-Linked 99	27
1514	c	DVL101	Developmental and Epileptic Encephalopathy 78	27
1515	c	DVL092	Developmental and Epileptic Encephalopathy 68	26
1516	c	DVL091	Developmental and Epileptic Encephalopathy 67	26
1517	c	DVL083	Developmental and Epileptic Encephalopathy 59	26
1518	c	DVL075	Developmental and Epileptic Encephalopathy 51	26
1519	c	DVL104	Developmental and Epileptic Encephalopathy 81	26
1520	c	DVL115	Developmental and Epileptic Encephalopathy 92	26
1521	c	INT447	Intellectual Developmental Disorder, X-Linked 9	26
1522	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	26
1523	c	DVL127	Developmental and Epileptic Encephalopathy 98	26
1524	c	DVL128	Developmental and Epileptic Encephalopathy 99	26
1525	c	DVL070	Developmental and Epileptic Encephalopathy 45	26
1526	c	INT439	Intellectual Developmental Disorder, X-Linked 104	26
1527	c	DVL081	Developmental and Epileptic Encephalopathy 57	25
1528	c	DVL106	Developmental and Epileptic Encephalopathy 83	25
1529	c	INT442	Intellectual Developmental Disorder, X-Linked 106	25
1530	c	DVL102	Developmental and Epileptic Encephalopathy 79	25
1531	c	DVL032	Developmental and Epileptic Encephalopathy 90	25
1532	c	DVL131	Developmental and Epileptic Encephalopathy 100	25
1533	c	INT413	Intellectual Developmental Disorder, X-Linked 63	25
1534	c	BLP049	Blepharocheilodontic Syndrome 2	25
1535	c	DVL105	Developmental and Epileptic Encephalopathy 82	25
1536	c	DVL085	Developmental and Epileptic Encephalopathy 61	25
1537		8P2002	8p23.1 Duplication Syndrome	24
1538	c	DVL087	Developmental and Epileptic Encephalopathy 63	24
1539	c	INT424	Intellectual Developmental Disorder, X-Linked 97	24
1540	c	INT427	Intellectual Developmental Disorder, X-Linked 90	24
1541	c	DVL110	Developmental and Epileptic Encephalopathy 88	24
1542	c	DVL095	Developmental and Epileptic Encephalopathy 71	24
1543	c	DVL065	Developmental and Epileptic Encephalopathy 40	24
1544	c	INT426	Intellectual Developmental Disorder, X-Linked 41	24
1545	c	DVL096	Developmental and Epileptic Encephalopathy 72	24
1546	c	INT397	Intellectual Developmental Disorder, X-Linked 50	24
1547	c	INT411	Intellectual Developmental Disorder, X-Linked 72	24
1548	c	DVL082	Developmental and Epileptic Encephalopathy 58	23
1549	c	EPD125	Epidermolysis Bullosa, Junctional 6, with Pyloric Atresia	23
1550	c	DVL132	Developmental and Epileptic Encephalopathy 101	22
1551	c	DVL124	Developmental and Epileptic Encephalopathy 97	22
1552	c	INT406	Intellectual Developmental Disorder, X-Linked 58	22
1553	c	INT438	Intellectual Developmental Disorder, X-Linked 103	22
1554	c	DVL121	Developmental and Epileptic Encephalopathy 96	22
1555	c	DVL134	Developmental and Epileptic Encephalopathy 102	22
1556	c	INT445	Intellectual Developmental Disorder, X-Linked 107	21
1557	c	DVL135	Developmental and Epileptic Encephalopathy 103	21
1558		SBR011	Subaortic Stenosis--Short Stature Syndrome	21
1559	c	DVL141	Developmental and Epileptic Encephalopathy 106	21
1560	c	INT423	Intellectual Developmental Disorder, X-Linked 96	21
1561	c	DVL108	Developmental and Epileptic Encephalopathy 86	21
1562	c	DVL136	Developmental and Epileptic Encephalopathy 104	20
1563	c	INT496	Intellectual Developmental Disorder, X-Linked 45	20
1564		EPD051	Epidermolysis Bullosa Simplex with Anodontia/hypodontia	20
1565	c	INT492	Intellectual Developmental Disorder, X-Linked 2	20
1566	c	DVL142	Developmental and Epileptic Encephalopathy 107	19
1567	c	INT440	Intellectual Developmental Disorder, X-Linked 105	19
1568	c	INT433	Intellectual Developmental Disorder, X-Linked 101	19
1569	P	PTT054	Patterned Macular Dystrophy	19
1570	c	INT494	Intellectual Developmental Disorder, X-Linked 46	18
1571	c	INT432	Intellectual Developmental Disorder, X-Linked 100	17
1572	c	INT485	Intellectual Developmental Disorder, X-Linked 23	17
1573	c	INT490	Intellectual Developmental Disorder, X-Linked 73	16
1574	c	INT487	Intellectual Developmental Disorder, X-Linked 14	15
1575	c	INT499	Intellectual Developmental Disorder, X-Linked 95	15
1576	c	INT495	Intellectual Developmental Disorder, X-Linked 77	15
1577	c	INT489	Intellectual Developmental Disorder, X-Linked 53	14
1578	c	INT497	Intellectual Developmental Disorder, X-Linked 84	14
1579	c	INT486	Intellectual Developmental Disorder, X-Linked 20	14
1580	c	DVL148	Developmental and Epileptic Encephalopathy 108	13
1581	c	INT493	Intellectual Developmental Disorder, X-Linked 81	13
1582		HYP499	Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome	13
1583	c	GRN068	Grin2d-Related Developmental and Epileptic Encephalopathy	11
1584	c	DVL151	Developmental and Epileptic Encephalopathy 110	11
1585	c	DVL150	Developmental and Epileptic Encephalopathy 109	10
1586	c	INT491	Intellectual Developmental Disorder, X-Linked 42	10
1587		END081	Endosteal Hyperostosis, Autosomal Dominant	62
1588		PPL049	Papillon-Lefevre Syndrome	70
1589	c	MCR256	Microphthalmia, Syndromic 9	68
1590		SCH016	Schimke Immunoosseous Dysplasia	61
1591	c	MCR241	Microphthalmia, Syndromic 3	59
1592		CHR003	Cherubism	58
1593	P	BND018	Band Heterotopia	55
1594	c	MCR261	Microphthalmia, Syndromic 2	52
1595	c	MCR263	Microphthalmia, Syndromic 1	51
1596	c	MCR251	Microphthalmia, Syndromic 6	50
1597		TYL002	Tylosis with Esophageal Cancer	46
1598	c	MCR245	Microphthalmia, Syndromic 8	46
1599		WTK002	Witkop Syndrome	44
1600	c	MCR252	Microphthalmia, Syndromic 5	43
1601	c	MCR212	Microphthalmia, Syndromic 12	42
1602	c	MCR312	Microphthalmia, Syndromic 10	40
1603	P	SYN165	Syndromic Microphthalmia	34
1604	c	MCR228	Microphthalmia, Syndromic 13	33
1605	c	MCR392	Microphthalmia, Syndromic 16	30
1606		CRN200	Craniosynostosis and Dental Anomalies	27
1607		FCL046	Focal Facial Dermal Dysplasia 4	25
1608		TTR024	Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities	25
1609	c	MCR217	Microphthalmia, Syndromic 11	23
1610		STR032	Steroid Dehydrogenase Deficiency Dental Anomalies	16
1611	c	FML049	Familial Band Heterotopia	4
1612	c	MCP050	Mucopolysaccharidosis, Type Ii	74
1613	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	70
1614	c	MCP052	Mucopolysaccharidosis, Type Vi	70
1615	c	MCP001	Mucopolysaccharidosis Iii	67
1616	c	MCP047	Mucopolysaccharidosis, Type Iva	65
1617	c	MCP049	Mucopolysaccharidosis, Type Vii	65
1618	c	MCP043	Mucopolysaccharidosis, Type Iiia	64
1619		HYP052	Hyperkalemic Periodic Paralysis	63
1620	c	MCP044	Mucopolysaccharidosis, Type Iiib	62
1621	c	MCP004	Mucopolysaccharidosis Iv	61
1622	c	MCP045	Mucopolysaccharidosis, Type Iiic	61
1623	c	MCP048	Mucopolysaccharidosis, Type Ivb	56
1624	c	MCP046	Mucopolysaccharidosis, Type Iiid	55
1625		SCH038	Schopf-Schulz-Passarge Syndrome	51
1626		NNC002	Nance-Horan Syndrome	48
1627	P	HML047	Heimler Syndrome 1	46
1628		MND025	Mandibulofacial Dysostosis with Alopecia	43
1629	c	MCP051	Mucopolysaccharidosis, Type Ix	42
1630	c	EHL081	Ehlers-Danlos Syndrome, Classic-Like	41
1631		CTL005	Catel-Manzke Syndrome	38
1632		OCL033	Oculocerebral Syndrome with Hypopigmentation	35
1633		LMB008	Limb-Mammary Syndrome	35
1634	c	HML046	Heimler Syndrome 2	33
1635		MNT118	Mental Retardation, Anterior Maxillary Protrusion, and Strabismus	28
1636	c	MCP055	Mucopolysaccharidosis, Type X	26
1637		ADL002	Adult Syndrome	68
1638		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	64
1639		TMT002	Temtamy Preaxial Brachydactyly Syndrome	51
1640	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	38