Fetal Diseases Category (4529 diseases)

Including: Fetal, Embryo, Teratogenic
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		HYD038	Hydrops Fetalis, Nonimmune	51
2		HYD012	Hydrops Fetalis	51
3	P	EMB005	Embryonal Rhabdomyosarcoma	54
4		MCR078	Microphthalmia Microtia Fetal Akinesia	17
5		FTL028	Fetal Retinoid Syndrome	15
6		VLP002	Valproate Embryopathy	47
7		MTH070	Methimazole Antenatal Exposure	18
8	P	FTL069	Fetal Akinesia Deformation Sequence 1	47
9		ACT091	Acitretin Embryopathy	5
10	c	LYM145	Lymphatic Malformation 5	50
11	P	LYM127	Lymphatic Malformations	50
12	c	FTL006	Fetal Alcohol Spectrum Disorder	50
13	c	LYM144	Lymphatic Malformation 1	41
14	c	LYM150	Lymphatic Malformation 7	40
15	P	PRG092	Pregnancy Loss, Recurrent 1	33
16		FTL007	Fetal Hydantoin Syndrome	30
17	c	LYM148	Lymphatic Malformation 4	24
18	c	LYM147	Lymphatic Malformation 3	21
19	c	LYM146	Lymphatic Malformation 2	15
20	c	CNG133	Congenital Varicella Syndrome	28
21		IST007	Isotretinoin Embryopathy-Like Syndrome	24
22	P	VRC007	Varicella, Severe Recurrent	10
23		IST006	Isotretinoin Syndrome	22
24		TWN001	Twin-to-Twin Transfusion Syndrome	50
25		NCH001	Nuchal Bleb, Familial	28
26	P	PRM252	Preimplantation Embryonic Lethality 1	17
27	c	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	44
28	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	43
29	P	OTS002	Otospondylomegaepiphyseal Dysplasia	41
30		EMB006	Embryonal Testis Carcinoma	36
31	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	29
32		MCR207	Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma	17
33		CHL043	Childhood Embryonal Testis Carcinoma	9
34	P	FTL001	Fetal Alcohol Syndrome	63
35		DTH005	Diethylstilbestrol Syndrome	31
36	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	22
37	P	CNT003	Central Nervous System Embryonal Carcinoma	10
38		CRD031	Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification	7
39		PRP094	Propylthiouracil Embryofetopathy	5
40		PRS030	Persistent Fetal Circulation Syndrome	47
41	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	43
42	P	PNT019	Pontocerebellar Hypoplasia	43
43	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	42
44		OVR050	Ovarian Embryonal Carcinoma	41
45	c	PNT036	Pontocerebellar Hypoplasia, Type 6	41
46	c	PNT010	Pontocerebellar Hypoplasia Type 1	40
47	c	PNT037	Pontocerebellar Hypoplasia, Type 3	40
48		FTL004	Fetal Erythroblastosis	40
49	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	39
50	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	35
51	c	PNT043	Pontocerebellar Hypoplasia, Type 4	33
52	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	33
53	c	PNT046	Pontocerebellar Hypoplasia, Type 5	30
54	c	PNT032	Pontocerebellar Hypoplasia, Type 9	30
55	c	PNT033	Pontocerebellar Hypoplasia, Type 10	30
56	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	30
57	c	PNT039	Pontocerebellar Hypoplasia, Type 7	28
58	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	27
59	c	PNT050	Pontocerebellar Hypoplasia, Type 11	26
60	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	26
61	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
62	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	23
63	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	23
64	c	PNT052	Pontocerebellar Hypoplasia, Type 12	21
65	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	12
66		CHL026	Childhood Ovarian Embryonal Carcinoma	9
67	c	ADL007	Adult Central Nervous System Embryonal Carcinoma	9
68	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	7
69		AMN013	Aminopterin/methotrexate Embryofetopathy	17
70		ACT206	Acitretin/etretinate Embryopathy	16
71		FTL066	Fetal Akinesia Syndrome, X-Linked	13
72		FTL011	Fetal Aminopterin Syndrome	9
73	P	TXP001	Toxoplasmosis	66
74	c	CNG021	Congenital Toxoplasmosis	56
75		CCN007	Cocoon Syndrome	41
76		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	20
77		FTL018	Fetal Indomethacin Syndrome	15
78		GRM001	Germ Cell and Embryonal Cancer	33
79		FTL029	Fetal Thalidomide Syndrome	31
80		INT041	Intratubular Embryonal Carcinoma	28
81	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	15
82	c	PRM251	Preimplantation Embryonic Lethality 2	14
83		PDT006	Pediatric Cns Embryonal Cell Carcinoma	7
84	P	CTR002	Cataract	59
85	P	PRS062	Persistent Hyperplastic Primary Vitreous	41
86	c	CTR103	Cataract 4, Multiple Types	37
87	c	CTR118	Cataract 14, Multiple Types	36
88	c	CTR170	Cataract 30, Multiple Types	36
89	c	CTR115	Cataract 16, Multiple Types	35
90	c	CTR141	Cataract 21, Multiple Types	35
91	c	CTR122	Cataract 5, Multiple Types	35
92	c	CTR125	Cataract 7	33
93	c	CTR145	Cataract 44	33
94	c	CTR102	Cataract 2, Multiple Types	33
95	c	CTR096	Cataract 6, Multiple Types	33
96	c	CTR158	Cataract 37	31
97	c	CTR129	Cataract 31, Multiple Types	30
98	c	CTR174	Cataract 40	30
99		EMB015	Embryonal Tumor with Multilayered Rosettes	29
100		FTL062	Fetal Iodine Deficiency Disorder	28
101	c	CTR113	Cataract 11, Multiple Types	28
102	c	CTR175	Cataract 24	27
103		FTL016	Fetal Edema	25
104	c	CTR169	Cataract 29	25
105	c	CTR166	Cataract 33, Multiple Types	25
106	c	CTR131	Cataract 17, Multiple Types	24
107	c	CTR181	Cataract 18	24
108	c	CTR162	Cataract 47	24
109	c	CTR180	Cataract 22, Multiple Types	23
110	c	CTR165	Cataract 19, Multiple Types	23
111	c	CTR119	Cataract 32, Multiple Types	23
112	c	CTR184	Cataract 39, Multiple Types	22
113	c	CTR097	Cataract 34, Multiple Types	21
114	c	CTR111	Cataract 36	21
115	c	CTR183	Cataract 38	20
116	c	CTR159	Cataract 35	20
117	c	CTR185	Cataract 30	20
118	c	CTR106	Cataract 20, Multiple Types	19
119	c	CTR163	Cataract 46, Juvenile-Onset	19
120	c	CTR121	Cataract 25	19
121	c	CTR110	Cataract 26, Multiple Types	19
122		PRS010	Prostate Embryonal Rhabdomyosarcoma	18
123	c	CTR144	Cataract 43	18
124	c	CTR139	Cataract 42	18
125	c	CTR157	Cataract 28	18
126		ORB002	Orbit Embryonal Rhabdomyosarcoma	18
127	c	CTR160	Cataract 45	18
128	c	CTR178	Cataract 27	17
129		CCN010	Cocaine Embryofetopathy	17
130	c	CTR025	Cataract, Total Congenital	17
131		MYC060	Mycophenolate Mofetil Embryopathy	16
132	c	CTR187	Cataract 48	16
133	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	14
134	c	CTR128	Cataract 33	14
135	c	PRS137	Persistent Hyperplastic Primary Vitreous, Autosomal Dominant	9
136	c	CTR008	Cataract Congenital Autosomal Dominant	8
137		EMB001	Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma	7
138		VLV013	Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma	6
139		NNC014	Non-Central Nervous System-Localized Embryonal Carcinoma	5
140		VTM006	Vitamin a Embryopathy	2
141	c	RBN009	Robinow Syndrome, Autosomal Recessive	49
142	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	41
143		GCH018	Gaucher Disease, Perinatal Lethal	38
144		MRS006	Morse-Rawnsley-Sargent Syndrome	4
145	P	DST002	Distal Arthrogryposis	60
146	c	ART144	Arthrogryposis, Distal, Type 1a	53
147	c	ART120	Arthrogryposis, Distal, Type 3	52
148		EMB002	Embryoma	47
149	c	ART155	Arthrogryposis, Distal, Type 2b1	47
150	c	ART061	Arthrogryposis, Distal, Type 2a	45
151	c	ART146	Arthrogryposis, Distal, Type 9	42
152		ALC001	Alcohol-Related Birth Defect	42
153	c	ART147	Arthrogryposis, Distal, Type 7	36
154	c	ART119	Arthrogryposis, Distal, Type 5	34
155	c	ART112	Arthrogryposis, Distal, Type 10	29
156	c	ART104	Arthrogryposis, Distal, Type 5d	28
157	c	ART128	Arthrogryposis, Distal, Type 6	27
158	c	ART131	Arthrogryposis, Distal, Type 4	25
159	c	ART122	Arthrogryposis, Distal, Type 8	25
160		PRT001	Partial Fetal Alcohol Syndrome	23
161	c	FTL070	Fetal Akinesia Deformation Sequence 2	21
162	c	ART060	Arthrogryposis, Distal, Type 1b	20
163		PRM208	Parameningeal Embryonal Rhabdomyosarcoma	19
164	c	ART054	Arthrogryposis, Distal, Type 2e	17
165	c	ART156	Arthrogryposis, Distal, Type 2b2	17
166	c	ART157	Arthrogryposis, Distal, Type 2b3	16
167		FTL058	Fetal Trimethadione Syndrome	16
168	c	FTL071	Fetal Akinesia Deformation Sequence 3	16
169		FTL026	Fetal Parvovirus Syndrome	15
170		DFN191	Deafness, Congenital Heart Defects, and Posterior Embryotoxon	14
171		FTL024	Fetal Minoxidil Syndrome	14
172	c	FTL072	Fetal Akinesia Deformation Sequence 4	13
173		PHN013	Phenobarbital Antenatal Exposure	7
174	P	MCK013	Meckel Syndrome, Type 1	62
175	P	RBL001	Rubella	62
176	c	NML002	Nemaline Myopathy 1	50
177	c	NML003	Nemaline Myopathy 2	49
178	P	NML001	Nemaline Myopathy	48
179	c	CNG124	Congenital Rubella	48
180		FTL021	Fetal Macrosomia	46
181	c	LTH008	Lethal Congenital Contracture Syndrome 2	46
182	c	MCK032	Meckel Syndrome, Type 3	44
183	c	NML004	Nemaline Myopathy 3	44
184	c	MCK012	Meckel Syndrome, Type 6	44
185	P	ANT088	Anterior Segment Dysgenesis	43
186	c	ATS082	Autosomal Dominant Robinow Syndrome	43
187		BWN001	Bowen-Conradi Syndrome	43
188	c	NML005	Nemaline Myopathy 4	40
189	c	MCK033	Meckel Syndrome, Type 4	39
190	c	ANT086	Anterior Segment Dysgenesis 2	39
191	c	MCK031	Meckel Syndrome, Type 2	39
192	c	MCK014	Meckel Syndrome, Type 5	37
193	c	MCK030	Meckel Syndrome, Type 7	36
194	c	NML006	Nemaline Myopathy 5	36
195	c	SVR040	Severe Congenital Nemaline Myopathy	35
196	c	MCK034	Meckel Syndrome, Type 8	33
197	c	CTR132	Cataract 3, Multiple Types	32
198	P	LTH003	Lethal Congenital Contracture Syndrome	31
199	c	INT274	Intermediate Congenital Nemaline Myopathy	31
200		FTL005	Fetal Adenoma	31
201		AMN014	Aminopterin Syndrome Sine Aminopterin	29
202		PRX085	Preaxial Hallucal Polydactyly	27
203	c	MCK028	Meckel Syndrome 13	27
204	c	LTH039	Lethal Congenital Contracture Syndrome 11	26
205	c	LTH027	Lethal Congenital Contracture Syndrome 5	26
206	c	MCK035	Meckel Syndrome, Type 10	26
207	c	NML007	Nemaline Myopathy 6	25
208	c	ADL068	Adult-Onset Nemaline Myopathy	25
209		FTL064	Fetal Methylmercury Syndrome	25
210	c	LTH031	Lethal Congenital Contracture Syndrome 6	25
211	c	NML010	Nemaline Myopathy 7	24
212	c	MCK026	Meckel Syndrome 12	24
213	c	LTH047	Lethal Congenital Contracture Syndrome 3	23
214	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	23
215	c	LTH029	Lethal Congenital Contracture Syndrome 9	23
216	c	MCK036	Meckel Syndrome, Type 9	22
217	c	NML021	Nemaline Myopathy 9	21
218	c	MCK020	Meckel Syndrome, Type 11	21
219		HRS002	Hersh Podruch Weisskopk Syndrome	20
220		MTR016	Maternal Hyperphenylalaninemia	20
221	c	LTH026	Lethal Congenital Contracture Syndrome 4	20
222	c	NML025	Nemaline Myopathy 8	19
223		HLP020	Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence	19
224		CCN012	Cocaine Antenatal Exposure	18
225		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	17
226		PRV001	Parovarian Cyst	16
227		FTL044	Fetal Cytomegalovirus Syndrome	14
228		CHL030	Childhood Botryoid Rhabdomyosarcoma	14
229	c	ATS413	Autosomal Recessive Anterior Segment Dysgenesis	14
230		NNT022	Neonatal Ovarian Cyst	13
231	c	SPR105	Sporadic Fetal Brain Disruption Sequence	13
232	c	RR2001	Ror2-Related Robinow Syndrome	13
233		FTL048	Fetal Lung Interstitial Tumor	12
234		HYD062	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features	12
235		EMB014	Embryonary Disorganization Syndrome	11
236		THY113	Thymic Aplasia with Fetal Death	9
237	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	8
238		FTL020	Fetal Left Ventricular Aneurysm	6
239		FTL049	Fetal Carbamazepine Syndrome	5
240		MXD015	Mixed Type Rhabdomyosarcoma	5
241		LSS032	Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome	5
242		SMT021	Somatomedin, Embryonic	3
243		FTL063	Fetal Nicotine Spectrum Disorder	3
244		SMM002	Semmekrot Haraldsson Weemaes Syndrome	3
245		FTL025	Fetal Parainfluenza Virus Type 3 Syndrome	2
246		FTL027	Fetal Phenothiazine Syndrome	2
247	P	ATX030	Ataxia-Telangiectasia	82
248	P	FNC027	Fanconi Anemia, Complementation Group a	81
249		PFF001	Pfeiffer Syndrome	80
250	P	NNN008	Noonan Syndrome 1	78
251		KPS004	Kaposi Sarcoma	77
252	P	NRF023	Neurofibromatosis, Type Ii	75
253		MRF001	Marfan Syndrome	75
254		PHN003	Phenylketonuria	74
255		VNH007	Von Hippel-Lindau Syndrome	72
256	P	TRN020	Turner Syndrome	71
257		FBR012	Fabry Disease	71
258	P	ALG028	Alagille Syndrome 1	70
259	P	DMN001	Diamond-Blackfan Anemia	70
260		APR006	Apert Syndrome	69
261	P	FRG001	Fragile X Syndrome	69
262		SMT004	Smith-Lemli-Opitz Syndrome	68
263	P	PSD087	Pseudoxanthoma Elasticum	68
264	P	HYD006	Hydrocephalus	67
265	P	DYS007	Dyskeratosis Congenita	67
266	c	FML346	Familial Adenomatous Polyposis 1	67
267	c	TBR026	Tuberous Sclerosis 2	66
268	c	MCP050	Mucopolysaccharidosis, Type Ii	66
269	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	66
270	P	KBK002	Kabuki Syndrome 1	66
271		INC021	Incontinentia Pigmenti	66
272	c	NNN010	Noonan Syndrome 3	65
273	P	CCK001	Cockayne Syndrome	65
274	c	MCL062	Mucolipidosis Ii Alpha/beta	64
275		NRR002	Norrie Disease	64
276		CST001	Costello Syndrome	64
277	P	CRD224	Cardiofaciocutaneous Syndrome 1	64
278	c	CNG411	Congenital Disorder of Glycosylation, Type in	64
279	c	MCP049	Mucopolysaccharidosis, Type Vii	64
280	c	ART101	Aortic Valve Disease 2	63
281		WLL001	Williams-Beuren Syndrome	63
282	P	SHW006	Shwachman-Diamond Syndrome 1	63
283	P	CRN015	Cornelia De Lange Syndrome	63
284		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	62
285	P	HYP055	Hypoplastic Left Heart Syndrome	61
286		KLP010	Klippel-Trenaunay-Weber Syndrome	61
287	P	VNT002	Ventricular Septal Defect	61
288	P	HRD008	Hereditary Hemorrhagic Telangiectasia	60
289	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
290		CHR619	Chromosome 2q35 Duplication Syndrome	60
291	P	MLG056	Malignant Hyperthermia	60
292		OCL020	Ocular Cicatricial Pemphigoid	60
293	c	SVR001	Severe Acute Respiratory Syndrome	60
294		DNH001	Donohue Syndrome	60
295		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	60
296		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	60
297	P	WLF004	Wolfram Syndrome	60
298		PLM070	Pulmonic Stenosis	60
299		CNT061	Conotruncal Heart Malformations	60
300		NWB001	Newborn Respiratory Distress Syndrome	59
301		PTR032	Peters-Plus Syndrome	59
302		NTH001	Netherton Syndrome	59
303		CFF002	Coffin-Lowry Syndrome	59
304		PTN001	Patent Foramen Ovale	59
305	c	GLC097	Glaucoma 3, Primary Congenital, a	59
306		PLC008	Placenta Disease	59
307		ANG020	Angiosarcoma	59
308		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	58
309	P	OCL013	Oculodentodigital Dysplasia	58
310	c	MYT020	Myotonic Dystrophy 2	58
311	c	PRX045	Peroxisome Biogenesis Disorder 1b	58
312	P	SYP003	Syphilis	58
313	c	CRP023	Carpenter Syndrome 1	58
314		STR039	Sturge-Weber Syndrome	58
315	P	AXN002	Axenfeld-Rieger Syndrome	57
316	P	ICH004	Ichthyosis	57
317	P	PLY006	Polydactyly	57
318	P	SLV001	Silver-Russell Syndrome	57
319		ANN002	Anencephaly	57
320	c	CRN139	Cornelia De Lange Syndrome 1	57
321		SMT008	Smith-Magenis Syndrome	57
322		LCR014	Lacrimoauriculodentodigital Syndrome	57
323	P	LYS001	Loeys-Dietz Syndrome	57
324	P	VND007	Van Der Woude Syndrome 1	57
325		OST024	Osteoporosis-Pseudoglioma Syndrome	56
326	P	STC001	Stickler Syndrome	56
327		CLF004	Cleft Lip/palate	56
328		GRG001	Greig Cephalopolysyndactyly Syndrome	56
329	P	PRM011	Primary Ciliary Dyskinesia	55
330	c	CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	55
331	c	WLF013	Wolfram Syndrome 1	55
332	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
333		ART002	Arts Syndrome	55
334	P	HLL001	Hallermann-Streiff Syndrome	55
335	P	HYD033	Hydrolethalus Syndrome 1	55
336	c	NNN012	Noonan Syndrome 5	55
337	P	CRN108	Cranioectodermal Dysplasia 1	55
338		HRL003	Hurler Syndrome	55
339		DXT001	Dextrocardia	54
340	c	BRC078	Brachydactyly, Type A1	54
341	P	SCK004	Seckel Syndrome	54
342		MLT135	Multiple Sulfatase Deficiency	54
343	c	BRC051	Brachydactyly, Type B1	54
344		ABL002	Ablepharon-Macrostomia Syndrome	53
345	c	NNN009	Noonan Syndrome 2	53
346		CHR005	Chorioamnionitis	53
347		MCK005	Mckusick-Kaufman Syndrome	53
348		OLG003	Oligohydramnios	53
349		RNP003	Renpenning Syndrome 1	53
350		ECT026	Ectopic Pregnancy	53
351		ACR011	Acromesomelic Dysplasia, Maroteaux Type	53
352	c	OST163	Osteopetrosis, Autosomal Recessive 3	52
353	c	WRD033	Waardenburg Syndrome, Type 2e	52
354		NNT012	Neonatal Jaundice	52
355		RGH009	Right Atrial Isomerism	52
356	P	TRT010	Teratoma	52
357	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	52
358	P	MYT002	Myotonic Dystrophy	52
359	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
360	P	VSC013	Visceral Heterotaxy	52
361		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	52
362	P	OMP004	Omphalocele	52
363	P	PSD015	Pseudohypoparathyroidism	51
364		PRR016	Pierre Robin Syndrome	51
365		CCH002	Coach Syndrome	51
366		PLC007	Placental Abruption	51
367	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	51
368	c	BRD012	Bardet-Biedl Syndrome 11	51
369	c	CLR131	Ciliary Dyskinesia, Primary, 1	51
370		EBS001	Ebstein Anomaly	51
371	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	51
372	c	SPN293	Spinocerebellar Ataxia 12	51
373	P	GND004	Gonadal Dysgenesis	51
374		FRY006	Fryns Microphthalmia Syndrome	51
375	P	VNB005	Van Buchem Disease	50
376	c	PRX059	Peroxisome Biogenesis Disorder 1a	50
377		VTR016	Vater/vacterl Association	50
378	P	BRC006	Brachydactyly	50
379		DBL002	Double Outlet Right Ventricle	50
380		DYG001	Dyggve-Melchior-Clausen Disease	50
381	P	WLL002	Weill-Marchesani Syndrome	50
382		HNN001	Hennekam Syndrome	50
383	c	CCK007	Cockayne Syndrome B	50
384	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
385	c	PST041	Posterior Urethral Valves	50
386		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	50
387	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	50
388		CTY001	Cat Eye Syndrome	50
389		RST011	Restrictive Dermopathy, Lethal	50
390		HYP347	Hypotonia-Cystinuria Syndrome	50
391	c	BRC109	Brachydactyly, Type E1	50
392	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
393		CHR101	Char Syndrome	50
394	c	RNG023	Ring Chromosome 7	50
395	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	49
396	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	49
397	P	CLS054	Classic Ehlers-Danlos Syndrome	49
398	P	PRX021	Proximal Symphalangism	49
399	c	ACH041	Achondrogenesis, Type Ii	49
400		PHL006	Phelan-Mcdermid Syndrome	49
401	P	NLX004	Neu-Laxova Syndrome 1	49
402	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
403	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	49
404	P	ART018	Aortic Valve Insufficiency	49
405	P	CRN074	Coronary Artery Aneurysm	49
406		CTS011	Cutis Marmorata Telangiectatica Congenita	49
407	c	WRD032	Waardenburg Syndrome, Type 2a	48
408	P	EPT020	Epithelioid Hemangioendothelioma	48
409	c	BRD044	Bardet-Biedl Syndrome 17	48
410	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	48
411		NVS001	Neovascular Glaucoma	48
412		TRC062	Tricuspid Atresia	48
413		NNC002	Nance-Horan Syndrome	48
414	P	ART084	Arteriovenous Fistula	48
415		PLM041	Pulmonary Valve Stenosis	48
416		ACR058	Acrofacial Dysostosis 1, Nager Type	48
417	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	48
418		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	48
419	c	SPN312	Spinocerebellar Ataxia 14	48
420		JHN001	Johanson-Blizzard Syndrome	48
421	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	48
422	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	47
423		MCR165	Microphthalmia with Limb Anomalies	47
424	P	NNT009	Neonatal Diabetes Mellitus	47
425	c	SCK009	Seckel Syndrome 1	47
426	c	46X001	46 Xy Gonadal Dysgenesis	47
427	c	ACH042	Achondrogenesis, Type Ib	47
428		MLT134	Multiple Pterygium Syndrome, Lethal Type	47
429		PLC001	Placenta Accreta	47
430		HYP231	Hypothalamic Hamartomas	47
431	P	SYN075	Syngnathia	47
432	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	47
433	c	MLG081	Malignant Teratoma	47
434	c	BRD032	Bardet-Biedl Syndrome 14	47
435	c	OPT051	Opitz Gbbb Syndrome, Type I	47
436	P	MRD002	Marden-Walker Syndrome	47
437	P	FNG006	Feingold Syndrome 1	46
438	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	46
439	c	BRC079	Brachydactyly, Type A2	46
440	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	46
441	c	FNC028	Fanconi Anemia, Complementation Group L	46
442		CHR594	Chromosome 3q29 Deletion Syndrome	46
443		CNG069	Congenital Cytomegalovirus	46
444	c	SPN100	Spinocerebellar Ataxia 27	46
445	c	USH035	Usher Syndrome Type 2	46
446	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
447		MYP136	Myopathy, Centronuclear, X-Linked	46
448	c	WRD020	Waardenburg Syndrome, Type 4a	46
449		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	46
450		MCR037	Macroglossia	46
451		CHN065	Choanal Atresia, Posterior	46
452		PLY012	Polyhydramnios	46
453		CRD002	Cri-Du-Chat Syndrome	46
454		HMH004	Hemihyperplasia, Isolated	46
455		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	46
456	c	WRD019	Waardenburg Syndrome, Type 4b	46
457	P	CRN276	Corneal Endothelial Dystrophy	46
458		TRC109	Tracheoesophageal Fistula with or Without Esophageal Atresia	46
459		KPS002	Kaposiform Hemangioendothelioma	46
460	c	USH021	Usher Syndrome, Type Iid	46
461		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	46
462		KBG001	Kbg Syndrome	46
463	P	DNR001	Duane Retraction Syndrome	46
464		CHR492	Chromosome 13q14 Deletion Syndrome	45
465	P	MCL001	Mucolipidosis	45
466	c	NNN013	Noonan Syndrome 6	45
467		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	45
468	c	CRN243	Carney Complex, Type 1	45
469	c	BRC081	Brachydactyly, Type C	45
470		MCR173	Microform Holoprosencephaly	45
471	c	ACH033	Achondrogenesis, Type Ia	45
472	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	45
473	c	FNC029	Fanconi Anemia, Complementation Group I	45
474	P	RDL002	Radioulnar Synostosis	45
475	c	BRD020	Bardet-Biedl Syndrome 8	45
476		GLC106	Glucocorticoid Resistance, Generalized	45
477	P	MSC022	Mosaic Variegated Aneuploidy Syndrome	45
478	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
479	c	PRM022	Primary Syphilis	45
480	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	45
481		OCL033	Oculocerebral Syndrome with Hypopigmentation	45
482	c	BRD033	Bardet-Biedl Syndrome 13	45
483		TKL001	Tukel Syndrome	45
484		MRG013	Mirage Syndrome	45
485	c	BRC060	Brachydactyly, Type E2	45
486	c	OPT050	Opitz Gbbb Syndrome, Type Ii	45
487	c	LPD019	Lipodystrophy, Partial, Acquired	44
488		MLB001	Mulibrey Nanism	44
489	c	SHR030	Short Qt Syndrome	44
490	c	WRD031	Waardenburg Syndrome, Type 3	44
491		SHR098	Short-Rib Thoracic Dysplasia 12	44
492	P	CHN044	Chondrodysplasia Punctata Syndrome	44
493	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	44
494		PLL008	Pallister-Killian Syndrome	44
495	c	BRD011	Bardet-Biedl Syndrome 10	44
496	c	BRT050	Bartter Syndrome, Type 2, Antenatal	44
497		ASP004	Asphyxia Neonatorum	44
498	c	SPN103	Spinocerebellar Ataxia 31	44
499		MWT001	Mowat-Wilson Syndrome	44
500	c	HYP543	Hypoplastic Left Heart Syndrome 1	44
501	c	FNC057	Fanconi Anemia, Complementation Group U	44
502	P	SYN012	Synpolydactyly	44
503	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	44
504	c	SPN308	Spinocerebellar Ataxia 28	44
505	c	BRD018	Bardet-Biedl Syndrome 6	44
506	c	TRN032	Transient Neonatal Diabetes Mellitus	44
507	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	44
508	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	43
509	c	JBR024	Joubert Syndrome 14	43
510		ANM001	Anemia of Prematurity	43
511	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	43
512		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	43
513		TRP014	Triploidy	43
514	c	FNC025	Fanconi Anemia, Complementation Group J	43
515	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	43
516		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	43
517		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	43
518	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	43
519	P	ORF002	Orofacial Cleft	43
520	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	43
521	P	OCY003	Oocyte Maturation Defect 1	42
522	c	NNN011	Noonan Syndrome 4	42
523	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	42
524	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	42
525	c	SPN330	Spondylocostal Dysostosis 5	42
526	c	MCL016	Mucolipidosis Iii Gamma	42
527	c	MYS078	Myasthenic Syndrome, Congenital, 14	42
528	c	BRC062	Brachydactyly, Type D	42
529		FBL002	Fibular Hypoplasia and Complex Brachydactyly	42
530		TTR011	Tetraploidy	42
531	c	BRD048	Bardet-Biedl Syndrome 18	42
532	c	SPL034	Split-Hand/foot Malformation 4	42
533	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	42
534	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	42
535	c	FNC023	Fanconi Anemia, Complementation Group N	42
536		47X002	47,xyy	42
537		DBT090	Diabetes and Deafness, Maternally Inherited	42
538		HND004	Hand-Foot-Genital Syndrome	42
539	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	42
540	c	BRD035	Bardet-Biedl Syndrome 15	42
541	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	42
542		MYP151	Myopathy, Congenital, Bailey-Bloch	42
543		HMF009	Hemifacial Hyperplasia	42
544	c	JBR015	Joubert Syndrome 6	42
545		HYL004	Hyaline Fibromatosis Syndrome	42
546	c	HLP024	Holoprosencephaly 2	42
547		CRR002	Currarino Syndrome	41
548	c	RNG004	Ring Chromosome 1	41
549	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	41
550	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	41
551		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	41
552	c	CTR130	Cataract 9, Multiple Types	41
553	c	PRM212	Primary Microcephaly	41
554	c	LRS002	Larsen-Like Syndrome	41
555	c	HLP026	Holoprosencephaly 3	41
556		SPN331	Spondyloocular Syndrome	41
557	c	RTS003	Ritscher-Schinzel Syndrome 1	41
558		BLR027	Blue Rubber Bleb Nevus	41
559		CHR211	Chromosome 18p Deletion Syndrome	41
560		MYH012	Myhre Syndrome	41
561	c	CTR098	Cataract 1, Multiple Types	41
562	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	41
563	P	ATL001	Atelosteogenesis	41
564		ISL121	Isolated Split Hand-Split Foot Malformation	41
565	c	SCK015	Seckel Syndrome 2	41
566	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
567		SCR035	Sacral Agenesis with Vertebral Anomalies	41
568	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	40
569	P	MCR364	Macrodactyly	40
570	c	HLP029	Holoprosencephaly 4	40
571	c	GLC083	Glaucoma 3, Primary Infantile, B	40
572		PTC002	Potocki-Lupski Syndrome	40
573	c	MCR263	Microphthalmia, Syndromic 1	40
574	c	CNG033	Congenital Syphilis	40
575		CHR382	Chromosome 18q Deletion Syndrome	40
576	P	PRT042	Parietal Foramina	40
577		GNT031	Genitopatellar Syndrome	40
578		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	40
579	P	ACH011	Achondrogenesis	40
580		LRN006	Laurin-Sandrow Syndrome	40
581	P	SPL061	Split Hand-Foot Malformation	40
582		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	40
583	c	OTP007	Otopalatodigital Syndrome, Type Ii	40
584	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
585	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
586	c	GLL038	Galloway-Mowat Syndrome 1	40
587	P	CRC039	Coarctation of Aorta	40
588		SCR020	Sacral Defect with Anterior Meningocele	40
589		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	40
590	c	BRD017	Bardet-Biedl Syndrome 5	39
591		BRB006	Barber-Say Syndrome	39
592	c	HYD064	Hydrocephalus, Congenital, 1	39
593		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	39
594	c	NNN021	Noonan Syndrome 8	39
595		HRL004	Hurler-Scheie Syndrome	39
596	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	39
597	c	NNN024	Noonan Syndrome 9	39
598		PLC009	Placenta Praevia	39
599	c	ANT071	Anterior Segment Dysgenesis 4	39
600		DXT002	Dextrocardia with Situs Inversus	39
601	c	VNM003	Van Maldergem Syndrome 1	39
602		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	39
603		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	39
604		TRP009	Triple X Syndrome	39
605	c	46X002	46 Xx Gonadal Dysgenesis	39
606		FNT005	Fontaine Progeroid Syndrome	39
607	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
608		GLS018	Glass Syndrome	39
609	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	38
610		MNT309	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1	38
611		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	38
612		SLF014	Sulfite Oxidase Deficiency, Isolated	38
613	c	MLG145	Malignant Epithelioid Hemangioendothelioma	38
614		CHR386	Chromosome 6pter-P24 Deletion Syndrome	38
615	c	SPL024	Split-Hand/foot Malformation 3	38
616		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	38
617	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	38
618	c	MCP051	Mucopolysaccharidosis, Type Ix	38
619		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	38
620	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	38
621		CHR667	Chromosome 3pter-P25 Deletion Syndrome	38
622	P	PRD037	Periodontal Ehlers-Danlos Syndrome	38
623	c	DYS119	Dystonia 9	38
624		SML028	Semilobar Holoprosencephaly	38
625		ASC009	Ascites, Chylous	38
626	P	CMM008	Communicating Hydrocephalus	38
627	P	BRN042	Branchiootic Syndrome	38
628	P	KLN006	Koolen-De Vries Syndrome	38
629	c	FNC048	Fanconi Anemia, Complementation Group O	38
630	P	MNN007	Meningocele	38
631	c	FNC062	Fanconi Anemia, Complementation Group S	38
632	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	38
633	c	SCP001	Sc Phocomelia Syndrome	38
634	c	LSS006	Lissencephaly 2	38
635		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	38
636		ALB014	Alobar Holoprosencephaly	37
637		MDL020	Midline Interhemispheric Variant of Holoprosencephaly	37
638	c	OST126	Osteopetrosis, Autosomal Recessive 1	37
639	P	ANT061	Antenatal Bartter Syndrome	37
640	c	MNS014	Monosomy 22	37
641		CHR010	Chorioangioma	37
642	c	SPL070	Split-Hand/foot Malformation 2	37
643		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	37
644	c	LKD008	Leukodystrophy, Hypomyelinating, 4	37
645	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
646		DPH019	Diaphanospondylodysostosis	37
647	c	NNN025	Noonan Syndrome 10	37
648	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
649	c	PRM032	Primary Congenital Glaucoma	37
650	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	37
651	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	37
652	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	37
653	c	USH041	Usher Syndrome, Type if	37
654	P	JVN008	Juvenile Glaucoma	37
655	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	37
656		THR017	Thoracoabdominal Syndrome	37
657	c	RNG008	Ring Chromosome 13	37
658	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
659		MND025	Mandibulofacial Dysostosis with Alopecia	37
660	c	MCR124	Microphthalmia, Isolated 1	37
661		CRY032	Carey-Fineman-Ziter Syndrome	37
662	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	37
663		OHD005	Ohdo Syndrome, Sbbys Variant	37
664	c	SPL033	Split-Hand/foot Malformation 6	37
665	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	37
666		DGT009	Digitotalar Dysmorphism	37
667		CHR518	Chromosome 9p Deletion Syndrome	37
668	c	CNG513	Congenital Ptosis	37
669	P	CRB154	Cerebrocostomandibular Syndrome	37
670	c	BRD045	Bardet-Biedl Syndrome 19	36
671		EMN001	Emanuel Syndrome	36
672	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	36
673	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	36
674		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	36
675		SPN012	Spindle Cell Hemangioma	36
676		VSD002	Vas Deferens, Congenital Bilateral Aplasia of	36
677		TRS002	Tarsal-Carpal Coalition Syndrome	36
678		LBR025	Lobar Holoprosencephaly	36
679		RVL002	Ruvalcaba Syndrome	36
680	c	HYP548	Hypogonadotropic Hypogonadism 2 with or Without Anosmia	36
681		CHR387	Chromosome Xp21 Deletion Syndrome	36
682		LMB008	Limb-Mammary Syndrome	36
683		BNB002	Bainbridge-Ropers Syndrome	36
684	c	USH042	Usher Syndrome, Type Ig	36
685	P	GLP001	Geleophysic Dysplasia	36
686	c	WRD024	Waardenburg Syndrome, Type 4c	36
687		EPP011	Epiphyseal Chondrodysplasia, Miura Type	36
688	c	ZMM002	Zimmermann-Laband Syndrome 1	36
689	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
690	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
691	P	DXT004	Dextro-Looped Transposition of the Great Arteries	36
692	c	ATS076	Autosomal Recessive Stickler Syndrome	36
693	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	36
694		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	36
695	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	36
696	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	35
697	c	FNC047	Fanconi Anemia, Complementation Group Q	35
698		ANG062	Angioosteohypertrophic Syndrome	35
699	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	35
700	c	BRD047	Bardet-Biedl Syndrome 16	35
701	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	35
702		WRS002	Warsaw Breakage Syndrome	35
703		49X002	49,xxxxy Syndrome	35
704		MCR103	Microtia	35
705	c	NNN020	Noonan Syndrome 7	35
706		GPS001	Gapo Syndrome	35
707		OGD001	Ogden Syndrome	35
708		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	35
709	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	35
710		KGM001	Kagami-Ogata Syndrome	35
711		TKN001	Takenouchi-Kosaki Syndrome	35
712	c	FNC058	Fanconi Anemia, Complementation Group R	35
713		CHR501	Chromosome 17q12 Deletion Syndrome	35
714	c	SPN299	Spinocerebellar Ataxia 20	35
715	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	35
716	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	35
717		PST063	Postsynaptic Congenital Myasthenic Syndromes	35
718		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	35
719	c	JBR025	Joubert Syndrome 17	35
720	c	JBR041	Joubert Syndrome 3	34
721		EMP011	Emphysema, Congenital Lobar	34
722	P	OMD003	Omodysplasia	34
723	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	34
724		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	34
725		TRG019	Trigonocephaly with Short Stature and Developmental Delay	34
726	c	FNC052	Fanconi Anemia, Complementation Group T	34
727	c	SPN247	Spinocerebellar Ataxia Type 19/22	34
728		SCH071	Schaaf-Yang Syndrome	34
729	c	CNG195	Congenital Disorder of Glycosylation, Type Id	34
730	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	34
731		CHR659	Chromosome 22q11.2 Duplication Syndrome	34
732		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	34
733		CNS013	Constricting Bands, Congenital	34
734	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
735	P	MXD016	Mixed Gonadal Dysgenesis	34
736	P	SYN059	Syndactyly, Type V	34
737		MSC020	Mosaic Trisomy 8	34
738		PLT007	Palatopharyngeal Incompetence	34
739	c	SPL025	Split-Hand/foot Malformation 5	34
740		INT276	Interatrial Communication	34
741		PLM151	Pulmonary Arteriovenous Fistulas	34
742	c	OVR075	Ovarian Dysgenesis 1	34
743		JBR005	Joubert Syndrome with Ocular Anomalies	34
744		TMP012	Temple Syndrome	34
745		TRP006	Tarp Syndrome	34
746	c	HLP028	Holoprosencephaly 5	34
747	c	SYN061	Syndactyly, Type Iv	34
748	c	RNG020	Ring Chromosome 4	33
749	c	WRD010	Waardenburg Syndrome Type 4	33
750	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
751		48X003	48,xxyy Syndrome	33
752		PRT049	Partial Deletion of Y	33
753		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	33
754	c	FNC056	Fanconi Anemia, Complementation Group V	33
755		NNT004	Neonatal Respiratory Failure	33
756		TRM011	Terminal Osseous Dysplasia	33
757	c	DMN021	Diamond-Blackfan Anemia 6	33
758	c	ICH023	Ichthyosis, Acquired	33
759	c	ORT011	Orthostatic Hypotension 1	33
760		OSC001	Oeis Complex	33
761	c	CRN109	Cranioectodermal Dysplasia 2	33
762	P	RTS001	Ritscher-Schinzel Syndrome	33
763	c	BRD019	Bardet-Biedl Syndrome 7	33
764	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	33
765	c	KLF004	Kleefstra Syndrome 1	33
766		CHR377	Chromosome 10q26 Deletion Syndrome	33
767	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	33
768		BRC004	Brachydactyly-Syndactyly Syndrome	33
769		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	33
770	c	SPN099	Spinocerebellar Ataxia 26	33
771		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	33
772	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
773	c	GLP003	Geleophysic Dysplasia 1	33
774		PLY036	Polyembryoma	33
775	c	BRT052	Bartter Syndrome, Type 1, Antenatal	32
776		ANR010	Aneurysm of Sinus of Valsalva	32
777	c	JBR012	Joubert Syndrome 5	32
778		SPT016	Septopreoptic Holoprosencephaly	32
779		CHR582	Chromosome 3q29 Duplication Syndrome	32
780	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	32
781	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	32
782		NNT005	Neonatal Candidiasis	32
783		MCR096	Macrocephaly/autism Syndrome	32
784	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	32
785		OLV004	Oliver-Mcfarlane Syndrome	32
786	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	32
787		DST008	Diastematomyelia	32
788		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	32
789	P	HYP700	Hypomyelinating Leukodystrophy	32
790	c	RBN008	Rubinstein-Taybi Syndrome 2	32
791	c	SYN084	Synpolydactyly 1	32
792	c	CNG198	Congenital Disorder of Glycosylation, Type Il	32
793	c	WLL036	Weill-Marchesani Syndrome 1	32
794	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	32
795		OCL039	Oculoectodermal Syndrome	32
796		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	32
797	c	JBR022	Joubert Syndrome 20	32
798		TRC035	Tracheal Agenesis	32
799	P	PLY148	Polydactyly, Preaxial Ii	32
800	c	CNG199	Congenital Disorder of Glycosylation, Type Im	32
801		NGL001	Naegeli-Franceschetti-Jadassohn Syndrome	32
802	c	PRX060	Peroxisome Biogenesis Disorder 5a	32
803		MLR023	Melorheostosis, Isolated	32
804	c	MTR051	Maternal Uniparental Disomy of Chromosome 1	32
805	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	31
806	c	MCR329	Microcephaly, Autosomal Dominant	31
807	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	31
808		PRT048	Partial Atrioventricular Canal	31
809	c	GLP004	Geleophysic Dysplasia 2	31
810		PRG023	Progeroid Short Stature with Pigmented Nevi	31
811	P	CRN249	Cornea Plana	31
812	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	31
813		LMB010	Lambert Syndrome	31
814	c	RNG018	Ring Chromosome 22	31
815	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	31
816		TTR012	Tetrasomy 9p	31
817	c	CNG188	Congenital Disorder of Glycosylation, Type if	31
818		OCL063	Oculopharyngodistal Myopathy	31
819	c	CCK002	Cockayne Syndrome Type I	31
820	P	MTP005	Metaphyseal Anadysplasia	31
821	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
822		MTP028	Metaphyseal Dysplasia, Spahr Type	31
823	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	31
824		ISL062	Isolated Plagiocephaly	31
825		ALG027	Al-Gazali-Bakalinova Syndrome	31
826		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	31
827	P	ACR106	Acrocephalopolysyndactyly Type Iii	31
828		ATY016	Atypical Werner Syndrome	31
829		MCR099	Microlissencephaly	31
830		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	31
831	c	ACQ027	Acquired Cutis Laxa	31
832		LRY022	Laryngoonychocutaneous Syndrome	31
833	c	DYS059	Dystonia 16	31
834		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	31
835	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	31
836		ALZ030	Alazami Syndrome	31
837	c	SCK010	Seckel Syndrome 4	31
838	P	DSB002	Desbuquois Dysplasia	30
839		HMF010	Hemifacial Microsomia with Radial Defects	30
840		NRN022	Neurenteric Cyst	30
841	c	HYP531	Hypogonadotropic Hypogonadism 4 with or Without Anosmia	30
842	c	PRX056	Peroxisome Biogenesis Disorder 11b	30
843	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	30
844	c	SCK011	Seckel Syndrome 5	30
845	c	CTR095	Cataract 8, Multiple Types	30
846	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	30
847		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	30
848	P	VNM004	Van Maldergem Syndrome	30
849	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	30
850	c	SPN098	Spinocerebellar Ataxia 25	30
851		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	30
852		CYN002	Cyanosis, Transient Neonatal	30
853		ISL109	Isolated Cleft Lip	30
854		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	30
855	c	USH031	Usher Syndrome, Type Ij	30
856	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	30
857	c	STC013	Stickler Syndrome, Type Ii	30
858		MSC021	Mosaic Trisomy 9	30
859		CMP035	Complete Atrioventricular Canal	30
860	c	MYS067	Myasthenic Syndrome, Congenital, 22	30
861	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	30
862	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	30
863	c	DSB005	Desbuquois Dysplasia 2	30
864	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	30
865	c	OST120	Osteopetrosis, Autosomal Recessive 5	30
866	c	RNG029	Ring Chromosome 14 Syndrome	30
867	c	WLL037	Weill-Marchesani Syndrome 2	30
868	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
869	c	DYS146	Dystonia 24	29
870		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	29
871		WRF003	Warfarin Syndrome	29
872		49X001	49, Xxxxx	29
873	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	29
874		CNG134	Congenitally Corrected Transposition of the Great Arteries	29
875	c	HYP565	Hypogonadotropic Hypogonadism 3 with or Without Anosmia	29
876		MXL016	Maxillonasal Dysplasia, Binder Type	29
877	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	29
878	c	B4G002	B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	29
879		CHR590	Chromosome 15q11-Q13 Duplication Syndrome	29
880	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	29
881		UNV002	Univentricular Heart	29
882		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	29
883	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	29
884	c	JBR014	Joubert Syndrome 9	29
885		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	29
886		ISL096	Isolated Klippel-Feil Syndrome	29
887	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
888		STL007	Steel Syndrome	29
889	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
890		CRN264	Craniosynostosis with Fibular Aplasia	29
891	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
892		MCR183	Microcephaly-Capillary Malformation Syndrome	29
893		PSD046	Pseudotrisomy 13 Syndrome	29
894	c	PRX050	Peroxisome Biogenesis Disorder 9b	29
895		HYP682	Hypertelorism, Teebi Type	29
896		PLM013	Pulmonary Immaturity	29
897		CDL005	Caudal Duplication Anomaly	29
898	c	PRX048	Peroxisome Biogenesis Disorder 10a	29
899		INN003	Iniencephaly	29
900	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	29
901		PRP093	Pierpont Syndrome	29
902	c	USH030	Usher Syndrome, Type Ik	29
903	c	RNG017	Ring Chromosome 21	29
904	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
905		TTT001	Tatton-Brown-Rahman Syndrome	29
906		CLV004	Calvarial Hyperostosis	29
907	c	PLY149	Polydactyly, Preaxial Iv	29
908	c	OMD001	Omodysplasia 1	29
909		BRN133	Bronchomalacia	29
910	c	PLY136	Polydactyly, Preaxial I	29
911	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	29
912	P	SCL047	Sclerocornea	29
913	c	ERL012	Early-Onset Glaucoma	29
914		CRB147	Cerebellofaciodental Syndrome	29
915	c	PRX051	Peroxisome Biogenesis Disorder 6a	29
916	c	RNG022	Ring Chromosome 6	29
917	P	OVR076	Ovarian Dysgenesis 2	29
918		KLB005	Kleeblattschaedel	28
919	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	28
920	P	TRS029	Trisomy 1q	28
921		INF021	Infant Gynecomastia	28
922	c	MCR252	Microphthalmia, Syndromic 5	28
923	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	28
924		WLD004	Wildervanck Syndrome	28
925	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
926		CRL006	Caroli Disease, Isolated	28
927	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	28
928		UVL009	Uvula, Bifid	28
929	c	GLL040	Galloway-Mowat Syndrome 3	28
930		MSM016	Mesomelic Dysplasia, Kantaputra Type	28
931	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	28
932	c	STS007	Sotos Syndrome 2	28
933	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	28
934	c	PRX054	Peroxisome Biogenesis Disorder 12a	28
935	c	FRN033	Frontonasal Dysplasia 2	28
936		CBB002	Cobb Syndrome	28
937		FRN022	Frontofacionasal Dysplasia	28
938	c	46X049	46,xy Sex Reversal 2	28
939	c	DMN017	Diamond-Blackfan Anemia 10	28
940		OCL040	Oculomaxillofacial Dysostosis	28
941	c	RNG015	Ring Chromosome 2	28
942		TTR014	Tetrasomy 18p	28
943	c	RNG007	Ring Chromosome 12	28
944	c	SPN286	Spinocerebellar Ataxia 40	28
945		CRD017	Cardiac Valvular Dysplasia, X-Linked	28
946		WTT002	Witteveen-Kolk Syndrome	28
947		VND005	Van Den Ende-Gupta Syndrome	28
948		CHR225	Chromosome 1q21.1 Duplication Syndrome	28
949		RHM015	Rhombencephalosynapsis	28
950	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	28
951	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
952		HYP059	Hypertelorism, Microtia, Facial Clefting Syndrome	28
953		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	28
954	c	ANT083	Anterior Segment Dysgenesis 7	28
955	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	28
956	c	SYM022	Symphalangism, Proximal, 1a	28
957	c	BRD021	Bardet-Biedl Syndrome 9	28
958	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
959		ATR088	Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects	28
960		CLF028	Cleft Soft Palate	28
961		HYP679	Hypoglossia-Hypodactylia	27
962		HYP728	Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia	27
963		CLF046	Cleft Lip/palate with Abnormal Thumbs and Microcephaly	27
964	c	LYS020	Loeys-Dietz Syndrome 5	27
965	c	BRN128	Branchiootic Syndrome 3	27
966	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	27
967		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	27
968		TRC007	Tricuspid Valve Prolapse	27
969		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	27
970		ATY022	Atypical Coarctation of Aorta	27
971		HRY005	Hairy Elbows	27
972	c	RNG010	Ring Chromosome 15	27
973	c	MCR245	Microphthalmia, Syndromic 8	27
974	c	OTF003	Otofaciocervical Syndrome 2	27
975		TBL008	Tibial Hemimelia	27
976		ACR099	Acrofacial Dysostosis, Catania Type	27
977	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	27
978	c	JVN034	Juvenile Polyposis of Infancy	27
979	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	27
980		CHR265	Chromosome 8p Duplication	27
981	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	27
982	c	BRD050	Bardet-Biedl Syndrome 21	27
983		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	27
984	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	27
985	c	JBR016	Joubert Syndrome 10	27
986		TTR013	Tetrasomy X	27
987		DGT002	Digital Clubbing, Isolated Congenital	27
988	c	JBR031	Joubert Syndrome 21	27
989		HYD048	Hydrocephalus with Stenosis of the Aqueduct of Sylvius	27
990	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	27
991		PLM058	Pulmonary Atresia with Intact Ventricular Septum	27
992		PLY110	Polymicrogyria, Bilateral Temporooccipital	27
993		RCM003	Recombinant Chromosome 8 Syndrome	27
994	c	KBK003	Kabuki Syndrome 2	27
995		CHR588	Chromosome 8q22.1 Duplication Syndrome	27
996	c	HLP025	Holoprosencephaly 9	27
997		HYP180	Hypertrichosis Lanuginosa Congenita	27
998	c	CRP022	Carpenter Syndrome 2	27
999		DPH012	Diphallia	27
1000	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	27
1001	c	ORF027	Orofacial Cleft 11	27
1002	c	DYS145	Dystonia 23	27
1003	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	27
1004		LMB069	Lamb-Shaffer Syndrome	27
1005		CHR229	Chromosome 20p Duplication	27
1006		CHR399	Chromosome 4q21 Deletion Syndrome	27
1007	c	ORF048	Orofacial Cleft 1	27
1008		GBR007	Gabriele-De Vries Syndrome	27
1009		ISL011	Isolated Aniridia	27
1010		BRN055	Bronchogenic Cyst	27
1011	c	PRX065	Peroxisome Biogenesis Disorder 3a	27
1012	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	27
1013		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	27
1014		SLF015	Self-Improving Collodion Baby	27
1015	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
1016	c	MRG010	Meier-Gorlin Syndrome 3	26
1017	c	PRX043	Peroxisome Biogenesis Disorder 6b	26
1018		CHR209	Chromosome 17p Duplication	26
1019		CHN019	Chand Syndrome	26
1020	c	MYS076	Myasthenic Syndrome, Congenital, 8	26
1021	c	HYP514	Hypogonadotropic Hypogonadism 8 with or Without Anosmia	26
1022		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	26
1023		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	26
1024	c	PRR026	Perrault Syndrome 5	26
1025		MCR067	Microcoria, Congenital	26
1026		ACR104	Acrofacial Dysostosis Syndrome of Rodriguez	26
1027		RGH006	Right Aortic Arch	26
1028		RMR001	Ramer Ladda Syndrome	26
1029	c	JBR013	Joubert Syndrome 8	26
1030	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	26
1031	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
1032	c	JBR018	Joubert Syndrome 4	26
1033	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
1034	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	26
1035		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	26
1036	c	MCR212	Microphthalmia, Syndromic 12	26
1037	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	26
1038	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	26
1039		MSC016	Mosaic Trisomy 14	26
1040		CMP025	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	26
1041	c	TRS012	Trisomy 22	26
1042		MCR302	Macrostomia, Isolated	26
1043	c	NML022	Nemaline Myopathy 10	26
1044		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	26
1045	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	26
1046	P	ART034	Aortopulmonary Window	26
1047		ASS004	Aase-Smith Syndrome I	26
1048	c	MRG015	Meier-Gorlin Syndrome 7	26
1049	c	DMN022	Diamond-Blackfan Anemia 9	26
1050	c	RNG016	Ring Chromosome 20	26
1051		HYP648	Hypertension and Brachydactyly Syndrome	26
1052		CHR270	Chromosome 9p Duplication	26
1053		WLL012	Williams-Beuren Region Duplication Syndrome	26
1054	c	CLR114	Ciliary Dyskinesia, Primary, 30	26
1055	c	BSL030	Basal Encephalocele	26
1056	c	CLR090	Ciliary Dyskinesia, Primary, 22	26
1057		CHR523	Chromosome 15q11.2 Deletion Syndrome	26
1058	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	26
1059	c	PRX046	Peroxisome Biogenesis Disorder 7a	26
1060		OCC011	Occipital Encephalocele	26
1061	c	PRT060	Parietal Foramina 2	26
1062	c	CRN135	Cornelia De Lange Syndrome 3	26
1063		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	26
1064	c	CCK004	Cockayne Syndrome Type Iii	25
1065	c	HYP549	Hypogonadotropic Hypogonadism 5 with or Without Anosmia	25
1066	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	25
1067	c	VNM002	Van Maldergem Syndrome 2	25
1068	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	25
1069		CHR159	Charlie M Syndrome	25
1070	c	MYS056	Myasthenic Syndrome, Congenital, 17	25
1071	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	25
1072	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	25
1073	c	PRX057	Peroxisome Biogenesis Disorder 4a	25
1074		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	25
1075	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	25
1076		RPD005	Rapidly Involuting Congenital Hemangioma	25
1077	c	MCR137	Microphthalmia, Isolated 2	25
1078	c	BRC099	Brachydactyly, Type A4	25
1079	c	WLL040	Weill-Marchesani Syndrome 4	25
1080	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	25
1081	P	NNT006	Neonatal Myasthenia Gravis	25
1082	c	LSS009	Lissencephaly 3	25
1083	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	25
1084	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	25
1085		TTR023	Tetraamelia-Multiple Malformations Syndrome	25
1086		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	25
1087		PRT131	Partial Trisomy Distal 4q	25
1088	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	25
1089	c	DMN019	Diamond-Blackfan Anemia 4	25
1090	c	PTT030	Pitt-Hopkins-Like Syndrome 2	25
1091	c	ADL057	Adult Teratoma	25
1092	c	SPN418	Spinocerebellar Ataxia 44	25
1093	c	CRN215	Cornelia De Lange Syndrome 4	25
1094		CHR266	Chromosome 8p23.1 Deletion	25
1095	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	25
1096	P	SYN064	Syndromic X-Linked Intellectual Disability	25
1097	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	25
1098		BLP041	Blepharochalasis and Double Lip	25
1099	c	PRX091	Peroxisome Biogenesis Disorder 8a	25
1100		PGD001	Pagod Syndrome	25
1101	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	25
1102	c	HTR009	Heterotaxy, Visceral, 2, Autosomal	25
1103	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	25
1104	c	CLR066	Ciliary Dyskinesia, Primary, 2	25
1105	c	MYS064	Myasthenic Syndrome, Congenital, 16	25
1106	c	MLT060	Multiple Synostoses Syndrome 2	25
1107	c	HYP444	Hypogonadotropic Hypogonadism 9 with or Without Anosmia	25
1108	c	CRN209	Cornelia De Lange Syndrome 5	25
1109	c	PRX058	Peroxisome Biogenesis Disorder 4b	25
1110	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	25
1111		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	25
1112		NNN007	Non-Involuting Congenital Hemangioma	25
1113	c	FRN032	Frontonasal Dysplasia 3	25
1114	c	FRN037	Frontal Encephalocele	25
1115		ISL089	Isolated Scaphocephaly	25
1116	c	PRX047	Peroxisome Biogenesis Disorder 5b	25
1117	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	25
1118	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	25
1119	c	WLL038	Weill-Marchesani Syndrome 3	25
1120	c	RNG005	Ring Chromosome 10	25
1121		CLF049	Cleft Lip and Alveolus	25
1122	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	25
1123		TTR027	Tetrasomy 15q26	25
1124		PNL023	Penile Agenesis	25
1125	c	CTR116	Cataract 15, Multiple Types	25
1126		CRL001	Cerulean Cataract	25
1127	P	PLM064	Pulmonary Sequestration	25
1128		HRD037	Hardikar Syndrome	25
1129		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	25
1130	c	JBR030	Joubert Syndrome 22	25
1131		SPN358	Spondyloepimetaphyseal Dysplasia, X-Linked	25
1132	c	JBR037	Joubert Syndrome 26	25
1133		CHR268	Chromosome 8q Duplication	25
1134	c	ACR103	Acrofrontofacionasal Dysostosis 1	25
1135	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	25
1136	c	SPN421	Spinocerebellar Ataxia 47	25
1137	c	RNG024	Ring Chromosome 8	25
1138	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	24
1139		SKR001	Skraban-Deardorff Syndrome	24
1140	c	46X030	46,xy Sex Reversal 9	24
1141	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	24
1142	c	SYN060	Syndactyly, Type Iii	24
1143		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	24
1144	c	PSD047	Pseudo-Turner Syndrome	24
1145	c	HLP027	Holoprosencephaly 7	24
1146	c	BRD051	Bardet-Biedl Syndrome 20	24
1147		DFF022	Diffuse Neonatal Hemangiomatosis	24
1148	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	24
1149		XQ1001	Xq12-Q13.3 Duplication Syndrome	24
1150	c	SPN102	Spinocerebellar Ataxia 30	24
1151	c	DMN040	Diamond-Blackfan Anemia 16	24
1152		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	24
1153		CHR524	Chromosome 16p13.3 Duplication Syndrome	24
1154	c	46X017	46,xy Sex Reversal 6	24
1155		MYM012	Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism	24
1156	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	24
1157	c	SHR032	Short Qt Syndrome 2	24
1158		UTR054	Uterine Hypoplasia	24
1159	P	KNN002	Kenny-Caffey Syndrome	24
1160	c	MCR228	Microphthalmia, Syndromic 13	24
1161		PLY135	Polydactyly, Postaxial, with Progressive Myopia	24
1162		ISL087	Isolated Oxycephaly	24
1163		TTR019	Tetrasomy 5p	24
1164	c	NNN027	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2	24
1165		CHR366	Chromosome 5p13 Duplication Syndrome	24
1166	P	ACR093	Acrofrontofacionasal Dysostosis	24
1167	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	24
1168	c	DYS151	Dystonia 25	24
1169	c	46X058	46,xy Sex Reversal 10	24
1170	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	24
1171	c	ACR105	Acrofrontofacionasal Dysostosis 2	24
1172	P	SPN237	Spina Bifida Aperta	24
1173		PYR018	Pyruvate Dehydrogenase Phosphatase Deficiency	24
1174	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	24
1175		CRN266	Craniofacial Dyssynostosis with Short Stature	24
1176	c	VNT028	Ventricular Septal Defect 1	24
1177	c	EPL232	Epileptic Encephalopathy, Early Infantile, 68	24
1178	c	CFF011	Coffin-Siris Syndrome 6	24
1179	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	24
1180		PHK008	Phakomatosis Cesioflammea	24
1181		GRW039	Growth Retardation, Developmental Delay, and Facial Dysmorphism	24
1182		ART030	Aortic Arch Interruption	24
1183	c	45X001	45,x/46,xy Mixed Gonadal Dysgenesis	24
1184	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	24
1185	c	PRX052	Peroxisome Biogenesis Disorder 13a	24
1186	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	24
1187		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	24
1188	c	HYP817	Hypogonadotropic Hypogonadism 21 with or Without Anosmia	24
1189		MCR355	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy	24
1190		ECT089	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia	24
1191	c	ANT085	Anterior Segment Dysgenesis 5	24
1192	c	RNG013	Ring Chromosome 18	24
1193		ISL061	Isolated Brachycephaly	24
1194	c	DMN024	Diamond-Blackfan Anemia 7	24
1195	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	24
1196	c	SCK029	Seckel Syndrome 7	24
1197	c	CNG514	Congenital Radioulnar Synostosis	24
1198	c	EHL065	Ehlers-Danlos Syndrome, Type V	24
1199	c	HYP532	Hypogonadotropic Hypogonadism 18 with or Without Anosmia	24
1200	c	SHR031	Short Qt Syndrome 1	24
1201	c	HYP552	Hypogonadotropic Hypogonadism 6 with or Without Anosmia	24
1202	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	24
1203	c	MCR269	Microcephaly 15, Primary, Autosomal Recessive	24
1204	c	SPN323	Spinocerebellar Ataxia 41	24
1205	c	FNG009	Feingold Syndrome 2	24
1206	c	HLP016	Holoprosencephaly 11	24
1207		SPN365	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	24
1208		CHR248	Chromosome 4p Duplication	24
1209		16Q001	16q24.3 Microdeletion Syndrome	24
1210	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	24
1211	c	HYP511	Hypogonadotropic Hypogonadism 15 with or Without Anosmia	24
1212	c	CLR068	Ciliary Dyskinesia, Primary, 5	24
1213		CRT060	Cor Triatriatum Sinister	24
1214		CHR379	Chromosome 15q26-Qter Deletion Syndrome	24
1215	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	24
1216		CHR381	Chromosome 17q23.1-Q23.2 Deletion Syndrome	24
1217		ISD002	Isodicentric Chromosome 15 Syndrome	24
1218		MCR310	Microgastria-Limb Reduction Defects Association	24
1219	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	24
1220		PRT101	Poretti-Boltshauser Syndrome	24
1221		NVR001	Nievergelt Syndrome	24
1222		PYR025	Pyruvate Dehydrogenase E2 Deficiency	24
1223	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	24
1224	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	24
1225	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	24
1226		SPS207	Spastic Paraplegia and Psychomotor Retardation with or Without Seizures	24
1227	c	LTH032	Lethal Congenital Contracture Syndrome 7	23
1228	P	TRC031	Trichorhinophalangeal Syndrome	23
1229		PSD030	Pseudodiastrophic Dysplasia	23
1230	c	HYP518	Hypogonadotropic Hypogonadism 16 with or Without Anosmia	23
1231		TTR021	Tetrasomy 21	23
1232	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	23
1233		DPR014	Diprosopus	23
1234		PRT043	Parietal Foramina with Cleidocranial Dysplasia	23
1235		LLS001	Lelis Syndrome	23
1236		OCL057	Oculotrichodysplasia	23
1237	c	EPL234	Epileptic Encephalopathy, Early Infantile, 70	23
1238	c	HYP546	Hypogonadotropic Hypogonadism 20 with or Without Anosmia	23
1239	c	CTR124	Cataract 10, Multiple Types	23
1240		MTC181	Mitochondrial Dna-Related Progressive External Ophthalmoplegia	23
1241		PRP090	Peripheral Dysostosis	23
1242	c	MCR114	Microphthalmia, Isolated 3	23
1243	c	CLR105	Ciliary Dyskinesia, Primary, 20	23
1244	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	23
1245		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	23
1246	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	23
1247	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	23
1248	c	DYS172	Dystonia 27	23
1249	c	MRG011	Meier-Gorlin Syndrome 4	23
1250		DSN002	Desanto-Shinawi Syndrome	23
1251	c	JBR039	Joubert Syndrome 28	23
1252	c	CLR094	Ciliary Dyskinesia, Primary, 28	23
1253	P	BLT016	Bilateral Polymicrogyria	23
1254	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	23
1255	c	PRX062	Peroxisome Biogenesis Disorder 8b	23
1256	P	ACR020	Acropectorovertebral Dysplasia	23
1257		CRS011	Criss-Cross Heart	23
1258	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	23
1259		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	23
1260		OCL030	Oculoauriculofrontonasal Syndrome	23
1261	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	23
1262	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	23
1263		CHR190	Chromosome 12p Duplication	23
1264	c	MRG009	Meier-Gorlin Syndrome 2	23
1265	c	HYP820	Hypogonadotropic Hypogonadism 22 with or Without Anosmia	23
1266	c	CFF006	Coffin-Siris Syndrome 5	23
1267	c	CFF012	Coffin-Siris Syndrome 7	23
1268		SCH031	Scholte Syndrome	23
1269		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	23
1270	c	FNC061	Fanconi Anemia, Complementation Group W	23
1271		FCL047	Facial Clefting, Oblique, 1	23
1272	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	23
1273		ADD006	Adducted Thumbs Syndrome	23
1274		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	23
1275	c	SPN259	Spinocerebellar Ataxia 32	23
1276	c	SCK037	Seckel Syndrome 9	23
1277		CHR616	Chromosome 19q13.11 Deletion Syndrome, Distal	23
1278	c	MLT078	Multiple Synostoses Syndrome 3	23
1279		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	23
1280		NSD003	Nasodigitoacoustic Syndrome	23
1281	c	HYP521	Hypogonadotropic Hypogonadism 10 with or Without Anosmia	23
1282	c	MNS008	Monosomy 21	23
1283	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	23
1284	c	SCK038	Seckel Syndrome 10	23
1285		BRN129	Branchial Cleft Anomalies	23
1286	c	WRD022	Waardenburg Syndrome, Type 2d	23
1287	c	CLR095	Ciliary Dyskinesia, Primary, 19	23
1288	c	LKD028	Leukodystrophy, Hypomyelinating, 15	23
1289	c	ORF028	Orofacial Cleft 10	23
1290	c	RNG019	Ring Chromosome 3	23
1291		AXL004	Axial Mesodermal Dysplasia Spectrum	23
1292	c	WRD029	Waardenburg Syndrome, Type 2b	23
1293	c	MRG014	Meier-Gorlin Syndrome 6	23
1294	c	EPL233	Epileptic Encephalopathy, Early Infantile, 69	23
1295	c	DMN006	Diamond-Blackfan Anemia 3	23
1296		PLM059	Pulmonary Atresia with Ventricular Septal Defect	23
1297	c	CTR105	Cataract 12, Multiple Types	23
1298		GNT043	Genitopalatocardiac Syndrome	23
1299	c	JBR021	Joubert Syndrome 18	23
1300	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	23
1301	c	DMN020	Diamond-Blackfan Anemia 8	23
1302	c	CLR102	Ciliary Dyskinesia, Primary, 17	23
1303	c	HYP443	Hypogonadotropic Hypogonadism 13 with or Without Anosmia	23
1304		FNT003	Fountain Syndrome	23
1305	c	MCR109	Microphthalmia, Isolated 4	23
1306		MCR321	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation	23
1307	c	PRT063	Proteus-Like Syndrome	23
1308	c	DMN005	Diamond-Blackfan Anemia 2	22
1309	c	LKD027	Leukodystrophy, Hypomyelinating, 14	22
1310		FMR016	Femur-Fibula-Ulna Syndrome	22
1311	c	PRR021	Perrault Syndrome 4	22
1312	c	TWN010	Townes-Brocks Syndrome 2	22
1313	c	DMN018	Diamond-Blackfan Anemia 5	22
1314	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	22
1315		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	22
1316	c	DYS138	Dystonia 21	22
1317	c	SPN419	Spinocerebellar Ataxia 45	22
1318	P	PTR018	Paternal Uniparental Disomy of Chromosome 6	22
1319	c	BRC080	Brachydactyly, Type A1, B	22
1320	c	HYP522	Hypogonadotropic Hypogonadism 11 with or Without Anosmia	22
1321		ERY043	Euryblepharon	22
1322	c	LTH030	Lethal Congenital Contracture Syndrome 8	22
1323	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	22
1324	c	46X056	46,xy Sex Reversal 5	22
1325	c	BRC075	Brachydactyly, Type A1, C	22
1326		ACR107	Acrofacial Dysostosis, Palagonia Type	22
1327		48X002	48,xxxy Syndrome	22
1328	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	22
1329	c	GLL041	Galloway-Mowat Syndrome 4	22
1330	c	BRC108	Brachydactyly, Type A3	22
1331		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	22
1332		SYM024	Symphalangism, Distal	22
1333	P	PHC014	Phocomelia	22
1334	c	CLR106	Ciliary Dyskinesia, Primary, 26	22
1335	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	22
1336		ART037	Arthrogryposis and Ectodermal Dysplasia	22
1337	c	CLR126	Ciliary Dyskinesia, Primary, 35	22
1338		CRT069	Cortical Malformations, Occipital	22
1339		TRC110	Tracheobronchial Stenosis, Congenital	22
1340	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	22
1341	c	JBR047	Joubert Syndrome 35	22
1342	c	BRN073	Branchiootic Syndrome 2	22
1343	c	JBR040	Joubert Syndrome 30	22
1344	c	MCR217	Microphthalmia, Syndromic 11	22
1345	c	RTS002	Ritscher-Schinzel Syndrome 2	22
1346	c	CRN280	Cornea Plana 2, Autosomal Recessive	22
1347		DVL018	Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair	22
1348		UNL005	Unilateral Polymicrogyria	22
1349	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	22
1350		MSC089	Mosaic Monosomy X	22
1351	c	TRC073	Treacher Collins Syndrome 2	22
1352		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	22
1353		HMH003	Hemihyperplasia-Multiple Lipomatosis Syndrome	22
1354		ACR101	Acrocraniofacial Dysostosis	22
1355	c	CLR125	Ciliary Dyskinesia, Primary, 33	22
1356	c	MYS077	Myasthenic Syndrome, Congenital, 15	22
1357	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	22
1358		CHR586	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb	22
1359	c	CLR116	Ciliary Dyskinesia, Primary, 29	22
1360	c	OVR107	Ovarian Dysgenesis 4	22
1361	c	LSS030	Lissencephaly 7 with Cerebellar Hypoplasia	22
1362	c	MLG151	Malignant Hyperthermia 5	22
1363		CHR212	Chromosome 18p Duplication	22
1364	c	GLL042	Galloway-Mowat Syndrome 5	22
1365		MLC004	Mulchandani-Bhoj-Conlin Syndrome	22
1366	c	46X059	46,xx Sex Reversal 4	22
1367		PNS015	Penoscrotal Transposition	22
1368	c	CLR098	Ciliary Dyskinesia, Primary, 27	22
1369	c	JBR043	Joubert Syndrome 32	22
1370	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	22
1371		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	22
1372	c	EHL091	Ehlers-Danlos Syndrome Type 7a	22
1373	c	MRG012	Meier-Gorlin Syndrome 5	22
1374	c	DMN029	Diamond-Blackfan Anemia 11	22
1375	c	TRC071	Treacher Collins Syndrome 3	22
1376	c	CLR042	Ciliary Dyskinesia, Primary, 6	22
1377		8P2002	8p23.1 Duplication Syndrome	22
1378	c	SPN107	Spinocerebellar Ataxia 9	22
1379	c	VNT024	Ventricular Septal Defect 3	22
1380	c	JBR028	Joubert Syndrome 13	22
1381	c	SYN088	Synpolydactyly 2	22
1382	P	ACR072	Acrorenal Syndrome	22
1383	c	VND004	Van Der Woude Syndrome 2	22
1384	c	MLG148	Malignant Hyperthermia 2	22
1385	c	HYP538	Hypogonadotropic Hypogonadism 17 with or Without Anosmia	22
1386	c	MCR219	Microphthalmia, Isolated 8	22
1387		TBS009	Teebi-Shaltout Syndrome	22
1388	c	CWD009	Cowden Syndrome 7	22
1389	c	HYP523	Hypogonadotropic Hypogonadism 14 with or Without Anosmia	22
1390		CMP069	Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome	22
1391	c	CLR140	Ciliary Dyskinesia, Primary, 40	22
1392	c	ERL002	Early Congenital Syphilis	22
1393	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	22
1394	c	FCL056	Facial Paresis, Hereditary Congenital, 3	22
1395		LMB014	Limb-Body Wall Complex	21
1396	c	SCK033	Seckel Syndrome 8	21
1397	c	CLR135	Ciliary Dyskinesia, Primary, 7	21
1398	c	HLP022	Holoprosencephaly 8	21
1399		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	21
1400	c	CLR117	Ciliary Dyskinesia, Primary, 32	21
1401	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	21
1402	c	CLC055	Cole-Carpenter Syndrome 2	21
1403	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	21
1404	c	APR009	Aprosencephaly Syndrome	21
1405		VCT008	Vacterl with Hydrocephalus	21
1406	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	21
1407	c	GLY108	Glycosylphosphatidylinositol Biosynthesis Defect 18	21
1408		LRY028	Laryngocele	21
1409	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	21
1410	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	21
1411	P	MNS011	Monosomy 9q22.3	21
1412	c	CTR182	Cataract 23, Multiple Types	21
1413	c	CLR088	Ciliary Dyskinesia, Primary, 21	21
1414	c	MLG149	Malignant Hyperthermia 3	21
1415		PLR024	Pilarowski-Bjornsson Syndrome	21
1416	P	ERL043	Early-Onset Nuclear Cataract	21
1417		OCL070	Oculopalatocerebral Syndrome	21
1418	c	HYD041	Hydatidiform Mole, Recurrent, 2	21
1419	c	HYP517	Hypoplastic Left Heart Syndrome 2	21
1420		BRN123	Branchial Arch Syndrome, X-Linked	21
1421		RFM002	Roifman-Chitayat Syndrome	21
1422		MSC081	Mosaic Trisomy 15	21
1423		ART056	Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay	21
1424	c	SHR033	Short Qt Syndrome 3	21
1425	c	CWD008	Cowden Syndrome 6	21
1426		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	21
1427	c	CLR101	Ciliary Dyskinesia, Primary, 25	21
1428		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	21
1429	c	HYP557	Hypogonadotropic Hypogonadism 19 with or Without Anosmia	21
1430	c	HYD040	Hydrolethalus Syndrome 2	21
1431		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	21
1432	c	JBR045	Joubert Syndrome 33	21
1433	c	BRC105	Brachydactyly, Type A1, D	21
1434	c	CLR059	Ciliary Dyskinesia, Primary, 13	21
1435		PLY116	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis	21
1436	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	21
1437		CRN200	Craniosynostosis and Dental Anomalies	21
1438	c	ANX008	Anauxetic Dysplasia 2	21
1439	c	SCN048	Secondary Syringomyelia	21
1440	c	HRN024	Horner Syndrome, Congenital	21
1441		LVC002	Levocardia	21
1442	c	MLG150	Malignant Hyperthermia 4	21
1443		DPL007	Duplication of Urethra	21
1444	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	21
1445	c	PRX068	Peroxisome Biogenesis Disorder 7b	21
1446	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	21
1447	c	CLR097	Ciliary Dyskinesia, Primary, 23	21
1448	c	CRD163	Cardiofaciocutaneous Syndrome 2	21
1449	c	HTR018	Heterotaxy, Visceral, 7, Autosomal	21
1450	c	CLR139	Ciliary Dyskinesia, Primary, 39	21
1451	c	CLR092	Ciliary Dyskinesia, Primary, 18	21
1452	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	21
1453		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	21
1454		RDL022	Radial Hemimelia	21
1455		CHR241	Chromosome 2q24 Microdeletion Syndrome	21
1456	c	CLR104	Ciliary Dyskinesia, Primary, 15	21
1457	c	CTR136	Cataract 41	21
1458	c	HTR023	Heterotaxy, Visceral, 6, Autosomal	21
1459		CHR620	Chromosome 16p11.2 Deletion Syndrome, 220-Kb	21
1460		CHR252	Chromosome 5p Duplication	21
1461	c	PRV016	Periventricular Nodular Heterotopia 6	21
1462		ULN023	Ulnar Hypoplasia	21
1463	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	21
1464	c	CLR107	Ciliary Dyskinesia, Primary, 24	21
1465		FBR087	Fibromatosis, Gingival, with Distinctive Facies	21
1466	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	21
1467	c	PRX066	Peroxisome Biogenesis Disorder 3b	21
1468	c	JBR044	Joubert Syndrome 31	21
1469		6QT002	6q Terminal Deletion Syndrome	21
1470	c	PRX089	Peroxisome Biogenesis Disorder 10b	21
1471	c	MTR077	Mitral Valve Prolapse 2	21
1472	P	RCR026	Recurrent Hydatidiform Mole	21
1473	c	BLP049	Blepharocheilodontic Syndrome 2	20
1474		ACH039	Achalasia-Microcephaly Syndrome	20
1475	c	CWD004	Cowden Syndrome 5	20
1476		MYP038	Myopathy, Congenital, Compton-North	20
1477		CNG009	Congenital Aortic Valve Stenosis	20
1478	c	CLR054	Ciliary Dyskinesia, Primary, 12	20
1479		CHR502	Chromosome 17q12 Duplication Syndrome	20
1480	c	CLR099	Ciliary Dyskinesia, Primary, 16	20
1481		CRV063	Cervical Spina Bifida Aperta	20
1482		MSL005	Mseleni Joint Disease	20
1483	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	20
1484		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	20
1485	c	STC011	Stickler Syndrome, Type V	20
1486		PLV015	Pelvis-Shoulder Dysplasia	20
1487		CHR368	Chromosome Xp11.23-P11.22 Duplication Syndrome	20
1488		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	20
1489	c	MTR083	Mitral Valve Prolapse 3	20
1490		ODN020	Odontoma-Dysphagia Syndrome	20
1491		MTC100	Metacarpal 4-5 Fusion	20
1492	c	JBR038	Joubert Syndrome 27	20
1493		CLV012	Clavicle, Pseudarthrosis of, Congenital	20
1494		CLB011	Coloboma of Macula with Type B Brachydactyly	20
1495		CGN001	Cogan-Reese Syndrome	20
1496		PTL010	Patella Aplasia-Hypoplasia	20
1497	c	CRN068	Corneal Endothelial Dystrophy Type 2	20
1498	c	SPN431	Spinocerebellar Ataxia, Autosomal Recessive 27	20
1499		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	20
1500		CRB161	Cerebellar Ataxia and Ectodermal Dysplasia	20
1501	c	ZMM003	Zimmermann-Laband Syndrome 2	20
1502	c	DMN028	Diamond-Blackfan Anemia 12	20
1503	c	GLC054	Glaucoma 3, Primary Congenital, D	20
1504		CHR369	Chromosome Xq28 Duplication Syndrome	20
1505		ACR019	Acropectoral Syndrome	20
1506		BLP009	Blepharonasofacial Malformation Syndrome	20
1507	c	XLN227	X-Linked Chondrodysplasia Punctata 1	20
1508		FCC002	Faciocardiorenal Syndrome	20
1509	c	XLN229	X-Linked Chondrodysplasia Punctata 2	20
1510		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	20
1511		MNS012	Monostotic Fibrous Dysplasia	20
1512	c	ORF050	Orofacial Cleft 2	20
1513	P	PRX064	Peroxisome Biogenesis Disorder 2b	20
1514		HYP212	Hypomandibular Faciocranial Dysostosis	20
1515	c	CLR136	Ciliary Dyskinesia, Primary, 9	20
1516		CHR483	Chromosome 3q13.31 Deletion Syndrome	20
1517		ATR055	Atrial Septal Aneurysm	20
1518	c	ORF049	Orofacial Cleft 3	20
1519		INT095	Internal Carotid Agenesis	20
1520	c	DMN039	Diamond-Blackfan Anemia 17	20
1521		CRY030	Cryptophthalmos, Unilateral or Bilateral, Isolated	20
1522		17Q012	17q24.2 Microdeletion Syndrome	20
1523	c	46X047	46,xy Sex Reversal 7	20
1524		ORB019	Orbital Margin, Hypoplasia of	20
1525		8PN001	8p Inverted Duplication/deletion Syndrome	20
1526		HRR005	Harrod Syndrome	20
1527	c	CLR138	Ciliary Dyskinesia, Primary, 38	20
1528	c	GLP007	Geleophysic Dysplasia 3	20
1529		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	20
1530	c	CHR227	Chromosome 20 Trisomy	20
1531	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	20
1532		CHR610	Chromosome 10q22.3-Q23.2 Deletion Syndrome	20
1533		ACK001	Ackerman Syndrome	20
1534	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	20
1535	c	KLF005	Kleefstra Syndrome 2	20
1536	c	USH045	Usher Syndrome, Type Iv	20
1537		LMB056	Lumbosacral Spina Bifida Cystica	20
1538		CRV062	Cervical Spina Bifida Cystica	20
1539	c	USH043	Usher Syndrome, Type Ih	20
1540		CNG284	Congenital Pseudoarthrosis of the Tibia	20
1541		ISL084	Isolated Trigonocephaly	19
1542		INT231	Intellectual Disability - Athetosis - Microphthalmia	19
1543	c	PTS010	Ptosis, Hereditary Congenital 2	19
1544	c	BRC053	Brachyolmia Type 2	19
1545	c	CLR091	Ciliary Dyskinesia, Primary, 14	19
1546	c	DMN030	Diamond-Blackfan Anemia 13	19
1547	c	STC012	Stickler Syndrome, Type Iv	19
1548	P	CNG070	Congenital Dislocation of the Patella	19
1549	c	STS009	Sotos Syndrome 3	19
1550		GRM003	German Syndrome	19
1551		MCR311	Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome	19
1552	c	RNG006	Ring Chromosome 11	19
1553		SCH025	Schisis Association	19
1554	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	19
1555		PRR029	Pierre Robin Syndrome and Oligodactyly	19
1556		DYS134	Dysspondyloenchondromatosis	19
1557	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	19
1558	c	OVR115	Ovarian Dysgenesis 5	19
1559		XQ2003	Xq25 Duplication Syndrome	19
1560		2Q3005	2q31.1 Microdeletion Syndrome	19
1561	c	PRR022	Perrault Syndrome 2	19
1562		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	19
1563	c	STC007	Stickler Syndrome, Type 3	19
1564		MLT148	Multiple Pterygium Syndrome, X-Linked	19
1565	c	LKD031	Leukodystrophy, Hypomyelinating, 18	19
1566	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	19
1567		NTH002	Nathalie Syndrome	19
1568	c	SCK032	Seckel Syndrome 6	19
1569	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	19
1570		FCC003	Faciocardiomelic Dysplasia, Lethal	19
1571	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	19
1572	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	19
1573		CMB063	Combined Oxidative Phosphorylation Deficiency 25	19
1574		RTH002	Rutherfurd Syndrome	19
1575	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	19
1576		SPN349	Spondylometaphyseal Dysplasia, Type A4	19
1577	P	CHR200	Chromosome 16 Trisomy	19
1578	c	RNG025	Ring Chromosome 9	19
1579		MSM019	Mesomelic Dysplasia, Savarirayan Type	19
1580		CNT104	Contractures, Congenital, Torticollis, and Malignant Hyperthermia	19
1581	c	ACR108	Acrocephalopolysyndactyly Type Iv	19
1582	c	HTR020	Heterotaxy, Visceral, 8, Autosomal	19
1583		DYS180	Dyschondrosteosis and Nephritis	19
1584		BLP042	Blepharoptosis, Myopia, and Ectopia Lentis	19
1585	c	CLR124	Ciliary Dyskinesia, Primary, 34	19
1586		CHR457	Chromosome 17p13.1 Deletion Syndrome	19
1587		MCR303	Macrosomia with Microphthalmia, Lethal	19
1588	c	OVR102	Ovarian Dysgenesis 3	19
1589		ERM001	Ermine Phenotype	19
1590		THR084	Thoracolumbosacral Spina Bifida Cystica	19
1591		THR085	Thoracolumbosacral Spina Bifida Aperta	19
1592		CRV064	Cervicothoracic Spina Bifida Aperta	19
1593		TTL008	Total Spina Bifida Cystica	19
1594		UPP008	Upper Thoracic Spina Bifida Aperta	19
1595		UPP007	Upper Thoracic Spina Bifida Cystica	19
1596		CRV061	Cervicothoracic Spina Bifida Cystica	19
1597		LMB057	Lumbosacral Spina Bifida Aperta	19
1598	c	TTL009	Total Spina Bifida Aperta	19
1599		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	19
1600	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	19
1601	P	MTR062	Maternal Uniparental Disomy of Chromosome 4	19
1602		INT232	Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	19
1603	c	EPL238	Epileptic Encephalopathy, Early Infantile, 73	19
1604	c	DPH016	Diaphragmatic Hernia 3	19
1605		KNS006	Kniest-Like Dysplasia, Lethal	19
1606	c	ORF047	Orofacial Cleft 15	19
1607		VGN031	Vaginal Atresia	19
1608		VRR008	Verrucous Hemangioma	19
1609		DST059	Distal Trisomy 17q	19
1610		DST037	Distal Monosomy 9p	19
1611	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	19
1612		SBR011	Subaortic Stenosis--Short Stature Syndrome	19
1613	c	CLR134	Ciliary Dyskinesia, Primary, 3	19
1614	c	ACQ050	Acquired Schizencephaly	18
1615		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	18
1616		SND006	Sonoda Syndrome	18
1617		HYP524	Hypoinsulinemic Hypoglycemia with Hemihypertrophy	18
1618		PLY134	Polydactyly, Postaxial, with Dental and Vertebral Anomalies	18
1619	c	SPN121	Spondylocostal Dysostosis 1	18
1620		ECT085	Ectopia Cordis	18
1621		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	18
1622		OMP008	Omphalocele-Cleft Palate Syndrome, Lethal	18
1623		PLD002	Pilodental Dysplasia with Refractive Errors	18
1624	c	OMP009	Omphalocele, Autosomal	18
1625		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	18
1626		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	18
1627		ABS020	Absent Eyebrows and Eyelashes with Mental Retardation	18
1628		PLY088	Polyvalvular Heart Disease Syndrome	18
1629	c	CLR053	Ciliary Dyskinesia, Primary, 11	18
1630	c	ANT067	Anterior Segment Dysgenesis 8	18
1631	c	EPL239	Epileptic Encephalopathy, Early Infantile, 74	18
1632	c	CLR123	Ciliary Dyskinesia, Primary, 37	18
1633		RDR002	Rodrigues Blindness	18
1634		MCD004	Macdermot-Winter Syndrome	18
1635		MSC019	Mosaic Trisomy 7	18
1636	c	OVR119	Ovarian Dysgenesis 7	18
1637		CRN076	Crane-Heise Syndrome	18
1638	c	HYD042	Hydrocephalus, Autosomal Dominant	18
1639		ATK002	Atkin-Flaitz Syndrome	18
1640		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	18
1641	c	BRC035	Brachydactyly Type A5	18
1642		DST045	Distal Trisomy 6p	18
1643		DBL007	Double Outlet Left Ventricle	18
1644		FCL064	Facial Dysmorphism with Multiple Malformations	18
1645		FCD002	Faciodigitogenital Syndrome, Autosomal Recessive	18
1646		48X005	48,xyyy	18
1647	c	MCR108	Microphthalmia, Isolated 7	18
1648		ATR017	Atrial Septal Defect Coronary Sinus	18
1649		ACR039	Acromegaloid Hypertrichosis Syndrome	18
1650	c	CLR056	Ciliary Dyskinesia, Primary, 10	18
1651		CTN032	Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia	18
1652		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	18
1653		1Q4001	1q44 Microdeletion Syndrome	18
1654		CHR416	Chromosome 17q Deletion	18
1655		CHR612	Chromosome 15q14 Deletion Syndrome	18
1656		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	18
1657	c	SYM019	Symphalangism, Proximal, 1b	18
1658		THY105	Thyrocerebroretinal Syndrome	18
1659	c	GLL045	Galloway-Mowat Syndrome 6	18
1660		HMF007	Hemifacial Hyperplasia with Strabismus	18
1661		ZCH002	Zechi-Ceide Syndrome	18
1662		MSC017	Mosaic Trisomy 22	18
1663		SPR065	Supernumerary Nostril	18
1664		SCL051	Scalp Defects and Postaxial Polydactyly	18
1665	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	18
1666		CHR362	Chromosome 17q21.31 Duplication Syndrome	18
1667	c	CWD005	Cowden Syndrome 4	18
1668	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	18
1669		MCR307	Microspherophakia-Metaphyseal Dysplasia	18
1670		PNH003	Pinheiro Freire-Maia Miranda Syndrome	18
1671		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	18
1672	c	PRG096	Pregnancy Loss, Recurrent 2	18
1673		EDN001	Edinburgh Malformation Syndrome	18
1674		CHR621	Chromosome 16p11.2 Deletion Syndrome, 593-Kb	18
1675		CHR182	Chromosome 10p Duplication	18
1676	c	MRG016	Meier-Gorlin Syndrome 8	18
1677	c	PRR033	Perrault Syndrome 6	18
1678		OTN001	Otoonychoperoneal Syndrome	18
1679		JNT004	Joint Laxity, Short Stature, and Myopia	18
1680		FMR013	Femoral Agenesis/hypoplasia	18
1681	c	MLT166	Multiple Synostoses Syndrome 4	18
1682	c	SYN082	Syndromic X-Linked Intellectual Disability 14	18
1683		TTR018	Tetragametic Chimerism	18
1684		EPP005	Epiphyseal Dysplasia Hearing Loss Dysmorphism	18
1685		CLF047	Cleft-Limb-Heart Malformation Syndrome	18
1686	c	EFM001	Efemp2-Related Cutis Laxa	18
1687		GND012	Gonadal Dysgenesis, Xy Type, with Associated Anomalies	18
1688		CRN224	Craniofaciofrontodigital Syndrome	18
1689	c	PLY103	Polydactyly, Postaxial, Type A5	18
1690		BRC094	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	18
1691		PLY133	Polysyndactyly with Cardiac Malformation	18
1692		MSM018	Mesomelic Limb Shortening and Bowing	18
1693		CHR393	Chromosome 19p13.13 Deletion Syndrome	18
1694		MCR317	Macrophthalmia, Colobomatous, with Microcornea	18
1695		DST044	Distal Trisomy 14q	18
1696		SPN353	Spondylometaphyseal Dysplasia, X-Linked	18
1697		HMR016	Humeroradioulnar Synostosis	18
1698	c	OVR120	Ovarian Dysgenesis 8	18
1699		CRT061	Cor Triatriatum Dexter	18
1700	c	EPL237	Epileptic Encephalopathy, Early Infantile, 72	18
1701		PCT002	Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails	18
1702		BRC100	Brachydactyly, Combined B and E Types	18
1703		THR032	Thoracolaryngopelvic Dysplasia	18
1704	c	DMN047	Diamond-Blackfan Anemia 18	18
1705	c	GLL046	Galloway-Mowat Syndrome 7	18
1706	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	18
1707		PRP101	Peripheral Pulmonary Stenosis	17
1708		CHR584	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb	17
1709		EPB002	Epiblepharon	17
1710	c	FCL030	Facial Paresis, Hereditary Congenital, 1	17
1711		TRC114	Trichodental Dysplasia	17
1712		MYL044	Myelocystocele	17
1713	c	WRD026	Waardenburg Syndrome, Type 2c	17
1714	c	ORF014	Orofacial Cleft 5	17
1715		CLB008	Coloboma of Eye Lens	17
1716	c	MSC139	Mosaic Variegated Aneuploidy Syndrome 3	17
1717	c	VNT026	Ventricular Septal Defect 2	17
1718		NSL020	Nasal Glial Heterotopia	17
1719		CMP039	Camptodactyly 1	17
1720		49X005	49, Xxxyy Syndrome	17
1721	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	17
1722		THR033	Thoracomelic Dysplasia	17
1723		3P2001	3p25.3 Microdeletion Syndrome	17
1724	c	MTR063	Maternal Uniparental Disomy of Chromosome 2	17
1725		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	17
1726		CNG347	Congenital Tricuspid Stenosis	17
1727		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	17
1728		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	17
1729		ULN005	Ulna and Fibula, Hypoplasia of	17
1730	c	INT005	Intermediate Malignant Teratoma	17
1731	c	PLY163	Polydactyly, Postaxial, Type A2	17
1732	c	RNG012	Ring Chromosome 17	17
1733	c	TRN062	Transient Neonatal Myasthenia Gravis	17
1734	c	RNG021	Ring Chromosome 5	17
1735		DYS135	Dysphagia Lusoria	17
1736	c	MCR368	Microcephaly 24, Primary, Autosomal Recessive	17
1737		TBT001	Tabatznik Syndrome	17
1738	c	CFF013	Coffin-Siris Syndrome 8	17
1739	c	GLL047	Galloway-Mowat Syndrome 8	17
1740	c	SX2003	Six2-Related Frontonasal Dysplasia	17
1741		ERL040	Early-Onset Sutural Cataract	17
1742		MMM002	Mammary-Digital-Nail Syndrome	17
1743		BLP011	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	17
1744	c	GLC089	Glaucoma 3, Primary Congenital, E	17
1745	c	MLG152	Malignant Hyperthermia 6	17
1746	c	MRD001	Marden Walker Like Syndrome	17
1747	c	PRD028	Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15	17
1748	c	FCL050	Facial Paresis, Hereditary Congenital, 2	17
1749		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	17
1750		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	17
1751		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	17
1752	c	MCR363	Microcephaly 23, Primary, Autosomal Recessive	17
1753	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	17
1754	P	HRD043	Hereditary Congenital Facial Paresis	17
1755		19P001	19p13.12 Microdeletion Syndrome	17
1756	c	MTR061	Maternal Uniparental Disomy of Chromosome 6	17
1757		LNG102	Long-Thumb Brachydactyly Syndrome	17
1758	c	ANT087	Anterior Segment Dysgenesis 6	17
1759		DST036	Distal Trisomy 15q	17
1760	c	PTT042	Pitt-Hopkins-Like Syndrome	17
1761	c	PLY101	Polydactyly, Postaxial, Type A6	17
1762		SBR012	Subaortic Stenosis, Membranous	17
1763	c	46X050	46,xx Sex Reversal 3	17
1764		CRV066	Cervical Aortic Arch	17
1765		ILL003	Illum Syndrome	17
1766		MTR027	Mitral Atresia	17
1767		DBL010	Double-Orifice Mitral Valve	17
1768		16P003	16p13.11 Microdeletion Syndrome	17
1769		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	17
1770	c	46X046	46,xy Sex Reversal 4	17
1771		7P2001	7p22.1 Microduplication Syndrome	17
1772	c	CLR067	Ciliary Dyskinesia, Primary, 4	17
1773		ECT069	Ectodermal Dysplasia 8, Hair/tooth/nail Type	17
1774		CRN197	Coronary Arterial Fistulas	17
1775	P	RNG031	Ring Chromosome Y Syndrome	17
1776		KMM002	Kommerell Diverticulum	17
1777		8P1001	8p11.2 Deletion Syndrome	17
1778		CNG491	Congenital Portosystemic Shunt	17
1779		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	17
1780		ALN003	Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus	16
1781		CRB164	Cerebrooculonasal Syndrome	16
1782		PTS017	Ptosis, Strabismus, and Ectopic Pupils	16
1783		HYP638	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	16
1784		11Q001	11q22.2q22.3 Microdeletion Syndrome	16
1785		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	16
1786		CLF034	Cleft Hard Palate	16
1787	c	PLY137	Polydactyly, Preaxial Iii	16
1788		BLT023	Bilateral Acute Depigmentation of the Iris	16
1789	c	CRN279	Cornea Plana 1, Autosomal Dominant	16
1790		CHR567	Chromosome 5q12 Deletion Syndrome	16
1791		ESS005	Essential Iris Atrophy	16
1792	c	CLR069	Ciliary Dyskinesia, Primary, 8	16
1793		NSL017	Nasolacrimal Duct Cyst	16
1794	c	PTS018	Ptosis, Hereditary Congenital 1	16
1795		MMB012	Membranous Cranial Ossification, Delayed	16
1796		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	16
1797	c	MTR067	Maternal Uniparental Disomy of Chromosome 16	16
1798		8Q1001	8q12 Microduplication Syndrome	16
1799		THR030	Thoraco Abdominal Enteric Duplication	16
1800	c	PTN012	Patent Ductus Arteriosus 3	16
1801		CNG108	Congenital Mitral Stenosis	16
1802		FRY007	Fryns Macrocephaly	16
1803	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	16
1804		ISL067	Isolated Congenital Megalocornea	16
1805		DYS049	Dysplastic Cortical Hyperostosis	16
1806	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	16
1807	c	TYP003	Type I Ehlers-Danlos Syndrome	16
1808		CHR614	Chromosome 16p13.2 Deletion Syndrome	16
1809	c	CMP088	Camptodactyly Syndrome, Guadalajara, Type Iii	16
1810		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	16
1811	c	EXS021	Exostoses, Multiple, Type Iii	16
1812	c	PTN013	Patent Ductus Arteriosus 2	16
1813		CNG506	Congenital Amyoplasia	16
1814		SMM003	Summitt Syndrome	16
1815	c	CRN298	Carney Complex, Type 2	16
1816	c	CLD018	Cleidocranial Dysplasia, Recessive Form	16
1817		DLT013	Deletion 5q35	16
1818		MRF018	Marfanoid Habitus with Microcephaly and Glomerulonephritis	16
1819	c	DMN045	Diamond-Blackfan Anemia-Like	16
1820		EXT058	Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly	16
1821		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	16
1822		SGR001	Sugarman Brachydactyly	16
1823	c	OCY002	Oocyte Maturation Defect 2	16
1824		ANN018	Anonychia, Total, with Microcephaly	16
1825		6P2001	6p22 Microdeletion Syndrome	16
1826		HYP689	Hypomelia with Mullerian Duct Anomalies	16
1827		CLR127	Ciliary Dyskinesia, Primary, 36, X-Linked	16
1828	c	OVR118	Ovarian Dysgenesis 6	16
1829		XLN232	X-Linked Alport Syndrome-Diffuse Leiomyomatosis	16
1830		PCH004	Pachygyria, Frontotemporal	16
1831		DDL001	Didelphys Uterus	16
1832		RDL028	Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema	16
1833		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	16
1834		ERL037	Early-Onset Lamellar Cataract	16
1835		14Q001	14q12 Microdeletion Syndrome	16
1836	c	PLY144	Polydactyly, Postaxial, Type A7	16
1837		WHT005	White Forelock with Malformations	16
1838		RDL029	Radial Ray Hypoplasia with Choanal Atresia	16
1839		SPS196	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	16
1840		CNG489	Congenital Herpes Simplex Virus Infection	16
1841		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	16
1842	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	16
1843		MNS013	Monosomy 13q34	16
1844		BKS002	Book Syndrome	16
1845		PRN057	Porencephaly, Cerebellar Hypoplasia, and Internal Malformations	16
1846		BRC096	Brachydactyly-Distal Symphalangism Syndrome	16
1847		CLD006	Cleidorhizomelic Syndrome	16
1848		16P004	16p13.11 Microduplication Syndrome	16
1849	c	GLC052	Glaucoma 3, Primary Congenital, C	16
1850		RTF001	Retiform Hemangioendothelioma	16
1851		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	16
1852		PLM065	Pulmonary Supravalvular Stenosis	16
1853		DST055	Distal 22q11.2 Microduplication Syndrome	16
1854		PHK006	Phakomatosis Pigmentokeratotica	16
1855		ATR019	Atrial Septal Defect Sinus Venosus	16
1856		ECT023	Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	16
1857	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	16
1858	c	ORF020	Orofacial Cleft 12	16
1859		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	16
1860		RGH010	Right Ventricular Hypoplasia, Isolated	16
1861	c	PLY178	Polydactyly, Postaxial, Type A8	16
1862	c	ORF016	Orofacial Cleft 8	16
1863	c	DMN048	Diamond-Blackfan Anemia 19	16
1864		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	16
1865		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
1866	c	OCY005	Oocyte Maturation Defect 4	16
1867		TTR016	Tetra-Amelia Syndrome	16
1868	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	16
1869		SBM006	Submucosal Cleft Palate	15
1870		ESP040	Esophageal Duplication Cyst	15
1871		CRN192	Craniorhiny	15
1872		PFF010	Pfeiffer-Palm-Teller Syndrome	15
1873	c	PRT113	Parietal Foramina 3	15
1874		CMP016	Camptobrachydactyly	15
1875		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	15
1876	c	ORF023	Orofacial Cleft 4	15
1877		XP2002	Xp22.13p22.2 Duplication Syndrome	15
1878		CRB144	Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	15
1879		DPH023	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull	15
1880	P	SPN127	Spondyloepimetaphyseal Dysplasia Joint Laxity	15
1881		THM021	Thumb Deformity and Alopecia	15
1882		CNG243	Congenital Subglottic Stenosis	15
1883		ADC008	Adactylia, Unilateral	15
1884	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	15
1885	c	DMN049	Diamond-Blackfan Anemia 20	15
1886		ECT087	Ectodermal Dysplasia, Trichoodontoonychial Type	15
1887		THM019	Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay	15
1888		DST082	Distal Trisomy 10q	15
1889		20Q001	20q13.33 Microdeletion Syndrome	15
1890		CRY029	Cryptomicrotia-Brachydactyly Syndrome	15
1891	c	CNT108	Central Polydactyly	15
1892		CNG330	Congenital Megacalycosis	15
1893		ODN021	Odontotrichoungual-Digital-Palmar Syndrome	15
1894		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	15
1895		SPN120	Spondylocamptodactyly	15
1896		DRM038	Dermotrichic Syndrome	15
1897		PRS111	Persistent Fifth Aortic Arch	15
1898		CLF033	Cleft Mitral Valve	15
1899		GNC010	Genochondromatosis	15
1900		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	15
1901		DST035	Distal Trisomy 18q	15
1902	c	PTR011	Paternal Uniparental Disomy of Chromosome 1	15
1903		1P2001	1p21.3 Microdeletion Syndrome	15
1904		UNL006	Unilateral Focal Polymicrogyria	15
1905	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	15
1906		VNB001	Van Benthem-Driessen-Hanveld Syndrome	15
1907	c	ORF025	Orofacial Cleft 6	15
1908	c	NNS019	Nonsyndromic Holoprosencephaly	15
1909		THR109	Thoracic Dysplasia-Hydrocephalus Syndrome	15
1910		TYS007	Tyshchenko Syndrome	15
1911		ALB022	Albinism-Microcephaly-Digital Anomalies Syndrome	15
1912	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	15
1913		20P001	20p12.3 Microdeletion Syndrome	15
1914		EXT062	Extracranial Carotid Artery Aneurysm	15
1915		TRS011	Trisomy 2 Mosaicism	15
1916		ISL118	Isolated Tracheoesophageal Fistula	15
1917		AML053	Amelia, Autosomal Recessive	15
1918		9P1001	9p13 Microdeletion Syndrome	15
1919	c	MCR372	Microcephaly 25, Primary, Autosomal Recessive	15
1920		RDL031	Radial Aplasia, X-Linked	15
1921	c	PLY182	Polydactyly, Postaxial, Type A9	15
1922	P	ZYG003	Zygodactyly 1	15
1923		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	15
1924		WLS002	Wilson-Mikity Syndrome	15
1925		HYP497	Hyperphalangy	15
1926		PLY132	Polysyndactyly, Crossed	15
1927		PRR030	Pierre Robin Sequence with Facial and Digital Anomalies	15
1928		HYD051	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis	15
1929		MSC078	Mosaic Trisomy 17	15
1930		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	15
1931		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	15
1932		DST069	Distal Monosomy 12q	15
1933		PTN009	Patent Urachus	15
1934	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	15
1935		HNT017	Hunter-Mcalpine Craniosynostosis Syndrome	15
1936	c	RNG011	Ring Chromosome 16	15
1937		NND008	Non-Distal Monosomy 7p	15
1938		CNG252	Congenital Non-Communicating Hydrocephalus	15
1939		ODN008	Odontomicronychial Dysplasia	15
1940		TTR010	Tetramelic Monodactyly	15
1941		MCR367	Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	15
1942		CNG062	Congenital Bronchobiliary Fistula	15
1943	P	XKP001	Xk Aprosencephaly	15
1944		MCR242	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	14
1945		HYP727	Hypoglossia with Situs Inversus	14
1946	c	ACQ026	Acquired Pseudoxanthoma Elasticum	14
1947		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	14
1948		CNG067	Congenital Cystic Eye	14
1949		HRR003	Herrmann Opitz Craniosynostosis	14
1950	c	RNG014	Ring Chromosome 19	14
1951		MSC080	Mosaic Trisomy 12	14
1952		TRN046	Transverse Vaginal Septum	14
1953		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	14
1954	c	EHL088	Ehlers-Danlos Syndrome Type 2	14
1955		ECT086	Ectrodactyly-Polydactyly	14
1956		TRN017	Transient Neonatal Neutropenia	14
1957		DSP003	Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	14
1958		9Q2003	9q21.13 Microdeletion Syndrome	14
1959		ACC011	Accessory Mitral Valve Tissue	14
1960		CMP077	Composite Hemangioendothelioma	14
1961		CRN307	Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	14
1962		CYS047	Cystic Fibrosis, Modifier of, 1	14
1963		VCL007	Vocal Cord Paralysis and Ptosis	14
1964		AML012	Ameloonychohypohidrotic Syndrome	14
1965		ATR053	Atresia of Urethra	14
1966	P	LRY049	Laryngotracheoesophageal Cleft Type 4	14
1967		CNS012	Cono-Spondylar Dysplasia	14
1968		10Q002	10q22.3q23.3 Microduplication Syndrome	14
1969		CRT080	Cortical Blindness, Retardation, and Postaxial Polydactyly	14
1970		MCR295	Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	14
1971	c	HLP021	Holoprosencephaly 6	14
1972		ISL120	Isolated Cerebellar Agenesis	14
1973	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	14
1974	c	MTR057	Maternal Uniparental Disomy of Chromosome X	14
1975		EXS015	Exostoses with Anetodermia and Brachydactyly, Type E	14
1976	P	OTP002	Otopalatodigital Spectrum Disorders	14
1977		PLT010	Pili Torti Onychodysplasia	14
1978		CHN047	Chondroectodermal Dysplasia with Night Blindness	14
1979		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	14
1980		FRS011	First Branchial Cleft Anomaly	14
1981		DST079	Distal Trisomy 5q	14
1982		HMN034	Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe	14
1983		49X004	49,xyyyy Syndrome	14
1984		ATX036	Ataxia-Photosensitivity-Short Stature Syndrome	14
1985		NND006	Non-Distal Monosomy 20q	14
1986		DST038	Distal Monosomy 7q36	14
1987		CHN027	Chondrodysplasia Lethal Recessive	14
1988		DRL001	Dural Sinus Malformation	14
1989		HLL014	Hallux Varus and Preaxial Polysyndactyly	14
1990		PST104	Postaxial Oligodactyly, Tetramelic	14
1991		PLM116	Pulmonary Artery Hypoplasia	14
1992	c	HTR012	Heterotaxy, Visceral, 3, Autosomal	14
1993	P	BMN001	Biemond Syndrome	14
1994	c	OCY004	Oocyte Maturation Defect 3	14
1995		ANR045	Aneurysm of Interventricular Septum	14
1996		20Q003	20q11.2 Microdeletion Syndrome	14
1997	c	DPH025	Diaphragmatic Hernia 2	14
1998		SYM015	Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers	14
1999		NND003	Non-Distal Trisomy 10q	14
2000		WHB001	Wahab Syndrome	14
2001		KLL013	Kallmann Syndrome-Heart Disease Syndrome	14
2002		NND005	Non-Distal Trisomy 13q	14
2003	c	SYN040	Synpolydactyly 3	14
2004		CMP084	Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome	14
2005		3Q2006	3q27.3 Microdeletion Syndrome	14
2006		5Q3001	5q35 Microduplication Syndrome	14
2007	c	OCY006	Oocyte Maturation Defect 5	14
2008		AST010	Astley-Kendall Syndrome	14
2009	c	MTP014	Metaphyseal Anadysplasia 2	14
2010		CMP070	Complete Atrioventricular Canal-Left Heart Obstruction Syndrome	14
2011		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	14
2012		LRS009	Larsen-Like Syndrome, Lethal Type	14
2013		INF059	Infundibulopelvic Dysgenesis	14
2014		CNG235	Congenital Microgastria	14
2015	c	PLY054	Polydactyly, Postaxial, Type A4	13
2016	c	PLY053	Polydactyly, Postaxial, Type A3	13
2017	c	MTR060	Maternal Uniparental Disomy of Chromosome 9	13
2018		ARC020	Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	13
2019		HRS038	Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features	13
2020		CMP079	Complete Septate Uterus	13
2021		MSC086	Mesocardia	13
2022		6Q1002	6q16 Microdeletion Syndrome	13
2023		RCT033	Rectal Duplication	13
2024	c	PRV013	Periventricular Nodular Heterotopia 3	13
2025	c	CTR176	Cataract, Age-Related Nuclear	13
2026		SCR022	Sacral Meningocele Conotruncal Heart Defects	13
2027		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	13
2028		CXR001	Coxoauricular Syndrome	13
2029		ANR041	Aniridia-Intellectual Disability Syndrome	13
2030		MSC084	Mosaic Genome-Wide Paternal Uniparental Disomy	13
2031		MCR186	Microtriplication 11q24.1	13
2032		SBP005	Subpulmonary Stenosis	13
2033		TRN045	True Unicornuate Uterus	13
2034		ART091	Aorto-Ventricular Tunnel	13
2035	c	PRD023	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2	13
2036	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	13
2037	c	PRG093	Pregnancy Loss, Recurrent 3	13
2038		ACR078	Acral Self-Healing Collodion Baby	13
2039		ATS292	Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	13
2040		XSM001	X Small Rings	13
2041	c	ORF029	Orofacial Cleft 13	13
2042	c	ACQ029	Acquired Porencephaly	13
2043		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	13
2044	P	CNG326	Congenital Primary Megaureter	13
2045		ART097	Aorto-Left Ventricular Tunnel	13
2046	c	USH011	Usher Syndrome, Type 2b	13
2047		DST071	Distal Monosomy 19p13.3	13
2048	c	KMT002	Kmt2b-Related Dystonia	13
2049		LNG081	Longitudinal Vaginal Septum	13
2050		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	13
2051		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	13
2052		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	13
2053		ART095	Aortic Valve Atresia	13
2054		NND004	Non-Distal Monosomy 10q	13
2055	c	ORF024	Orofacial Cleft 9	13
2056		MDL016	Midline Cervical Cleft	13
2057		CLF019	Cleft Palate Short Stature Vertebral Anomalies	13
2058		SCL050	Scoliosis, Arachnodactyly, and Blindness	13
2059		XLN133	X-Linked Intellectual Disability, Shashi Type	13
2060		MND008	Mandibular Arteriovenous Malformation	13
2061		APR008	Aprosencephaly and Cerebellar Dysgenesis	13
2062		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	13
2063	c	ACR046	Acropectorovertebral Dysplasia F Form	13
2064		ACR027	Acrodysplasia Scoliosis	13
2065		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	13
2066		PRX083	Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	13
2067	c	SPN122	Spondylocostal Dysostosis 2	13
2068		ATR018	Atrial Septal Defect Ostium Primum	13
2069		CNG335	Congenital Ectropion Uveae	13
2070		ACH028	Acheiria	13
2071		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	13
2072	P	PCH020	Pachyonychia Congenita, Autosomal Recessive	13
2073		TRC112	Trochlea of the Humerus, Aplasia of	13
2074		HND012	Handigodu Joint Disease	13
2075		CHR498	Chromosome 16p11.2 Duplication Syndrome	13
2076	P	HRT041	Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	13
2077		ANN015	Anonychia with Flexural Pigmentation	12
2078	c	OLV006	Olivopontocerebellar Atrophy Ii, Autosomal Recessive	12
2079		ERL036	Early-Onset Posterior Subcapsular Cataract	12
2080		CLF040	Cleft Lip-Retinopathy Syndrome	12
2081		5Q3002	5q31.3 Microdeletion Syndrome	12
2082	P	ISC010	Isochromosome Yp	12
2083		ETH013	Euthyroid Graves Orbitopathy	12
2084		DST052	Distal 7q11.23 Microduplication Syndrome	12
2085		CNG519	Congenital Gerbode Defect	12
2086	c	VSC043	Vesicoureteral Reflux 6	12
2087		FNG014	Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature	12
2088	c	CHR180	Chromosome 10, Uniparental Disomy	12
2089		TRP023	Triphalangeal Thumbs and Dislocation of Patella	12
2090		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	12
2091		ODN004	Odonto Onycho Dysplasia with Alopecia	12
2092		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	12
2093	c	HLL012	Hallermann-Streiff-Like Syndrome	12
2094		PRT087	Parietal Encephalocele	12
2095	c	SCL053	Sclerocornea, Autosomal Dominant	12
2096	c	SPN123	Spondylocostal Dysostosis 3	12
2097		16P005	16p11.2p12.2 Microduplication Syndrome	12
2098		ISL054	Isolated Congenitally Uncorrected Transposition of the Great Arteries	12
2099		URC013	Urachal Diverticulum	12
2100	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	12
2101		XLN145	X-Linked Intellectual Disability, Pai Type	12
2102		46X015	46,xy Ovotesticular Disorder of Sex Development	12
2103	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	12
2104		CRN194	Cranial Meningocele	12
2105	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	12
2106		LWR017	Lower Limb Malformation-Hypospadias Syndrome	12
2107	P	ANT062	Anterior Urethral Valve	12
2108		CRN204	Craniofacial Conodysplasia	12
2109		XLN156	X-Linked Intellectual Disability, Golabi-Ito-Hall Type	12
2110		MDR001	Medeira-Dennis-Donnai Syndrome	12
2111		ANR037	Aneurysm or Dilatation of Ascending Aorta	12
2112		SHN001	Shone Complex	12
2113		ISL128	Isolated Microspherophakia	12
2114		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	12
2115		JXT004	Juxtaposition of the Atrial Appendages	12
2116		ISC019	Ischiovertebral Syndrome	12
2117		CRD014	Cardiac Diverticulum	12
2118		ISL133	Isolated Epispadias	12
2119	c	MGL035	Megalencephaly, Autosomal Dominant	12
2120	c	B3G001	B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	12
2121		ISL108	Isolated Splenogonadal Fusion	12
2122		INT294	Intellectual Disability-Short Stature-Hypertelorism Syndrome	12
2123		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	12
2124		LWN002	Low Anorectal Malformation	12
2125		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	12
2126		13Q001	13q12.3 Microdeletion Syndrome	12
2127		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	12
2128		PRM238	Primary Intralymphatic Angioendothelioma	12
2129		PRP103	Peripapillary Staphyloma	12
2130	c	GRD008	Grid2-Related Spinocerebellar Ataxia	12
2131		MSC079	Mosaic Trisomy 1	12
2132		46X040	46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome	12
2133		PSD091	Pseudounicornuate Uterus	12
2134		ABS016	Absence of the Pulmonary Artery	12
2135		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	12
2136		PRC041	Pericardial and Diaphragmatic Defect	11
2137		GZR001	Guizar Vasquez Sanchez Manzano Syndrome	11
2138	c	CHR161	Chiari Malformation Type 3	11
2139		SVR082	Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	11
2140		XLN142	X-Linked Intellectual Disability, Stevenson Type	11
2141		SBP003	Subependymal Nodular Heterotopia	11
2142		SYM014	Symbrachydactyly of Hands and Feet	11
2143	c	TRS033	Trisomy 18-Like Syndrome	11
2144		MTR084	Maternal Hyperthermia-Induced Birth Defects	11
2145		HGH026	High Anorectal Malformation	11
2146	c	CNG343	Congenital Coronary Artery Aneurysm	11
2147	c	PRD025	Prader-Willi Syndrome Due to Imprinting Mutation	11
2148		NSL021	Nasal Encephalocele	11
2149		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	11
2150		ART098	Aorto-Right Ventricular Tunnel	11
2151		CRN087	Craniomicromelic Syndrome	11
2152		MSC090	Mosaic Trisomy 3	11
2153		MCR357	Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	11
2154	c	HYP545	Hypospadias 3, Autosomal	11
2155	c	CNG253	Congenital Communicating Hydrocephalus	11
2156	c	OCY007	Oocyte Maturation Defect 6	11
2157	c	PRM168	Primary Syringomyelia	11
2158		LBR027	Laubry-Pezzi Syndrome	11
2159		PRT138	Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	11
2160	c	SPN434	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3	11
2161	c	CSK002	Cask-Related Intellectual Disability	11
2162		SVR086	Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	11
2163	c	PST093	Posterior Hypospadias	11
2164	c	PTR015	Paternal Uniparental Disomy of Chromosome X	11
2165		CNG357	Congenital Symblepharon	11
2166	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	11
2167		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	11
2168	c	VSC042	Vesicoureteral Reflux 5	11
2169	c	BRC037	Brachydactyly Type A7	11
2170	c	CNG455	Congenital Aortopulmonary Window	11
2171		FRT004	Fourth Branchial Cleft Anomaly	11
2172	c	UNP004	Uniparental Disomy of Chromosome 2	11
2173		HLP030	Holoprosencephaly-Caudal Dysgenesis Syndrome	11
2174	c	ANG059	Angelman Syndrome Due to Imprinting Defect in 15q11-Q13	11
2175		ISL029	Isolated Anorectal Malformation	11
2176	c	SPN124	Spondylocostal Dysostosis 4	11
2177		CNT077	Central Bilateral Macrogyria	10
2178		CRV060	Cervical Dermoid Cyst	10
2179		BLT009	Bilateral Generalized Polymicrogyria	10
2180	c	PTR019	Paternal Uniparental Disomy of Chromosome 5	10
2181		ULN014	Ulnar Hemimelia	10
2182	c	BLT007	Bilateral Frontal Polymicrogyria	10
2183	c	CNG257	Congenital Pulmonary Sequestration	10
2184		SPN150	Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism	10
2185		URC012	Urachal Sinus	10
2186	c	SYN050	Syndactyly Type 6	10
2187		XLN149	X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis	10
2188		ONY006	Onychodystrophy-Anonychia	10
2189		DNT049	Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	10
2190		LWR014	Lower Limb Hypertrophy	10
2191		9Q3002	9q33.3q34.11 Microdeletion Syndrome	10
2192	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	10
2193		CNG244	Congenital Laryngeal Cyst	10
2194		IDP062	Idiopathic Syringomyelia	10
2195		HYP584	Hypotrichosis-Intellectual Disability, Lopes Type	10
2196		HMR042	Humero-Ulnar Synostosis	10
2197		CNG318	Congenital Genu Recurvatum	10
2198	c	VSC040	Vesicoureteral Reflux 4	10
2199	c	VSC041	Vesicoureteral Reflux 7	10
2200		MYP110	Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome	10
2201		GLS016	Glossopalatine Ankylosis	10
2202	c	DXT005	Dextro-Looped Transposition of the Great Arteries 3	10
2203		DST089	Distal Trisomy 3p	10
2204		MTP011	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	10
2205		PRS112	Persistent Eustachian Valve	10
2206		2P2002	2p21 Microdeletion Syndrome Without Cystinuria	10
2207		MGC005	Megacystis-Megaureter Syndrome	10
2208	c	ATS065	Autosomal Dominant Coarctation of Aorta	10
2209		CNG241	Congenital Laryngeal Palsy	10
2210	c	EHL090	Ehlers-Danlos Syndrome Type 7b	10
2211		ART130	Arthrogryposis with Hyperkeratosis	10
2212		FBL017	Fibular Dimelia-Diplopodia Syndrome	10
2213		CRN207	Coronary Sinus Stenosis	10
2214	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	10
2215		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
2216	c	CNG346	Congenital Aortic Valve Insufficiency	10
2217		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	10
2218		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	10
2219		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
2220		XLN207	X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome	9
2221		SNS024	Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	9
2222		CNG277	Congenital Pseudoarthrosis of the Fibula	9
2223	c	CNG433	Congenital Cornea Plana	9
2224		LPM011	Lip, Median Nodule of Upper	9
2225	c	UNP003	Uniparental Disomy of Chromosome 11	9
2226	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	9
2227		GNN001	Genuine Diffuse Phlebectasia	9
2228	c	ANG053	Angelman Syndrome Due to Maternal 15q11q13 Deletion	9
2229	P	HRN027	Hernia, Anterior Diaphragmatic	9
2230	c	ISC013	Isochromosomy Yq	9
2231	c	HYD067	Hydatidiform Mole, Recurrent, 3	9
2232	c	GLC032	Glaucoma, Hereditary	9
2233	c	FBL003	Fbln5-Related Cutis Laxa	9
2234		CNG279	Congenital Pseudoarthrosis of the Ulna	9
2235		ISL050	Isolated Dandy-Walker Malformation with Hydrocephalus	9
2236		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
2237		ISL049	Isolated Dandy-Walker Malformation Without Hydrocephalus	9
2238		IDP017	Idiopathic Dilatation of the Pulmonary Artery	9
2239	c	HYD068	Hydatidiform Mole, Recurrent, 4	9
2240		CNG282	Congenital Knee Dislocation	9
2241		MSC087	Mosaic Trisomy 4	9
2242		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	9
2243		MSC088	Mosaic Trisomy 5	9
2244	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	9
2245	c	ZYG007	Zygodactyly Type 3	9
2246	c	MCR185	Macrodactyly of Toes	9
2247		PRC042	Parachute Tricuspid Valve	9
2248		THR083	Third Branchial Cleft Anomaly	9
2249		DST090	Distal Trisomy 2p	9
2250		DBL018	Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis	9
2251		CLF055	Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome	8
2252		MXL013	Maxillary Arteriovenous Malformation	8
2253		TRC108	Trichodysplasia-Amelogenesis Imperfecta Syndrome	8
2254		INV017	Inverse Marcus-Gunn Phenomenon	8
2255		CRN208	Coronary Sinus Atresia	8
2256	c	ANG052	Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15	8
2257		CNG272	Congenital Achiasma	8
2258	c	GLL043	Galloway-Mowat Syndrome 2	8
2259		BNL004	Benallegue Lacete Syndrome	8
2260		DNC006	Diencephalic-Mesencephalic Junction Dysplasia	8
2261		CNG283	Congenital Pseudoarthrosis of the Femur	8
2262		DST085	Distal Trisomy 2q	8
2263		DBR003	Dobrow Syndrome	8
2264		SPN082	Spina Bifida Hypospadias	8
2265		DST087	Distal Trisomy 7p	8
2266		CNG278	Congenital Pseudoarthrosis of the Radius	8
2267		PRN048	Prenatal Benign Hypophosphatasia	8
2268		AML037	Amelia of Upper Limb	8
2269		MCR184	Macrodactyly of Fingers	8
2270	c	CHR162	Chiari Malformation Type 4	8
2271	c	TTR026	Tetralogy of Fallot Syndrome, Autosomal Recessive	8
2272		MRN008	Marin-Amat Syndrome	8
2273		MLH001	Melhem Fahl Syndrome	8
2274	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	8
2275	c	ZYG006	Zygodactyly Type 2	8
2276	c	SYN077	Syndromic X-Linked Intellectual Disability 12	8
2277		3Q2004	3q26 Microduplication Syndrome	8
2278		SYN027	Syngnathia Cleft Palate	8
2279		APD003	Apodia	8
2280		ACC010	Accessory Tricuspid Valve Tissue	8
2281		ECT107	Ectasia of the Left Atrial Appendage	8
2282	c	BCK015	Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11	8
2283		PHK009	Phakomatosis Cesiomarmorata	8
2284	c	CRB078	Cerebrocostomandibular-Like Syndrome	8
2285		OKH001	Okihiro Syndrome Due to a Point Mutation	8
2286		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	7
2287	c	PST077	Posterior Meningocele	7
2288		BPR001	Bipartite Talus	7
2289	P	JVN036	Juvenile Sialidosis Type 2	7
2290	c	CNG348	Congenital Sialidosis Type 2	7
2291	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	7
2292	c	ATS360	Autosomal Recessive Intellectual Disability 58	7
2293	c	ATS410	Autosomal Dominant Intellectual Disability 49	7
2294		MCR294	Macrocephaly-Short Stature-Paraplegia Syndrome	7
2295		LRY034	Laryngotracheal Angioma	7
2296		PLR014	Pleuro-Pericardial Cyst	7
2297		DST076	Distal Trisomy 13q	7
2298		TBF001	Tibio-Fibular Synostosis	7
2299		DST074	Distal Trisomy 20q	7
2300		TRS020	Tarsal Kink Syndrome	7
2301		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	7
2302	c	LRY051	Laryngotracheoesophageal Cleft Type 1	7
2303		MCR285	Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	7
2304	c	LRY050	Laryngotracheoesophageal Cleft Type 2	7
2305		INT254	Intermediate Anorectal Malformation	7
2306	c	PRD042	Prader-Willi-Like Syndrome Due to a Point Mutation	7
2307		TNN014	Tunnel Subaortic Stenosis	7
2308	c	KRN003	Kernicterus Due to Isoimmunization	7
2309	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	7
2310		CRD171	Cordiform Uterus	7
2311		ATS109	Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	7
2312		ISL034	Isolated Megalencephaly	7
2313	c	CNG476	Congenital Systemic Arteriovenous Fistula	7
2314		HYP500	Hyperphalangy, Unilateral	7
2315		DYR002	Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion	7
2316	c	CHR201	Chromosome 16, Uniparental Disomy	7
2317		HMR031	Humeral Agenesis/hypoplasia	7
2318	c	CRN093	Craniosynostosis Autosomal Dominant	7
2319	c	LRY048	Laryngotracheoesophageal Cleft Type 0	7
2320		PHK010	Phakomatosis Spilorosea	7
2321		4P1001	4p16.3 Microduplication Syndrome	7
2322	c	BCK011	Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion	7
2323	c	MTR064	Maternal Uniparental Disomy of Chromosome 22	7
2324		RNN007	Reunion Island Larsen-Like Syndrome	7
2325		PRM187	Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	7
2326		DST078	Distal Trisomy 6q	7
2327		KRS001	Krauss Herman Holmes Syndrome	7
2328	c	ZYG005	Zygodactyly Type 4	7
2329		IDP088	Idiopathic Isolated Micropenis	7
2330		DST081	Distal Trisomy 11q	7
2331	c	CLR027	Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules	6
2332		BLR023	Biliary Atresia with Splenic Malformation Syndrome	6
2333		CNG259	Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation	6
2334		EXT047	Extralobar Congenital Pulmonary Sequestration	6
2335		OMP003	Omphalomesenteric Cyst	6
2336		UPP009	Upper Limb Hypertrophy	6
2337	c	ACR048	Acrorenal Syndrome Recessive	6
2338		CNG287	Congenital Absence of Both Forearm and Hand	6
2339		DST073	Distal Monosomy 7p	6
2340		ARC019	Arachnodactyly - Intellectual Disability - Dysmorphism	6
2341	c	ISL040	Isolated Focal Cortical Dysplasia Type Ia	6
2342	c	ISL045	Isolated Focal Cortical Dysplasia Type I	6
2343		DST066	Distal Monosomy 20q	6
2344		CNG327	Congenital Epstein-Barr Virus Infection	6
2345		DST057	Distal Trisomy 19q	6
2346		BLK004	Blake Pouch Cyst	6
2347		PRT111	Partial Septate Uterus	6
2348		HYP501	Hyperphalangy, Bilateral	6
2349		DST083	Distal Trisomy 9q	6
2350		DST058	Distal Monosomy 12p	6
2351		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	6
2352		CNG289	Congenital Absence/hypoplasia of Thumb	6
2353		CNG359	Congenitally Uncorrected Transposition of the Great Arteries with Coarctation	6
2354	c	PRD024	Prader-Willi Syndrome Due to Translocation	6
2355	c	ATS403	Autosomal Dominant Intellectual Disability 40	6
2356		CNG290	Congenital Absence of Both Lower Leg and Foot	6
2357	c	SN3001	Sin3a-Related Intellectual Disability Syndrome	6
2358		20P002	20p13 Microdeletion Syndrome	6
2359		ECT057	Ectasia of the Right Atrial Appendage	6
2360		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	6
2361		PLM157	Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome	6
2362		1P3003	1p35.2 Microdeletion Syndrome	6
2363		PRS138	Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium	6
2364		7Q3001	7q31 Microdeletion Syndrome	6
2365		14Q003	14q11.2 Microduplication Syndrome	6
2366		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	6
2367		PLM054	Pulmonary Artery Coming from the Aorta	6
2368		DST054	Distal 17p13.3 Microdeletion Syndrome	6
2369	c	ANG058	Angelman Syndrome Due to a Point Mutation	6
2370		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
2371	c	OCL037	Oculodentodigital Dysplasia Dominant	6
2372		RTN189	Retinal Capillary Malformation	6
2373	c	HYD017	Hydrocephalus Autosomal Recessive	6
2374	c	ATS348	Autosomal Dominant Intellectual Disability 30	6
2375	c	CRB128	Cerebrofacial Arteriovenous Metameric Syndrome Type 1	6
2376		DST070	Distal Monosomy 4q	6
2377		DST075	Distal Trisomy 16q	6
2378		CMM018	Common Mesentery	6
2379		HMR037	Humero-Ulnar Synostosis, Bilateral	6
2380		11P002	11p15.4 Microduplication Syndrome	6
2381		DST077	Distal Trisomy 22q	6
2382	c	LSS020	Lissencephaly with Cerebellar Hypoplasia Type B	6
2383	P	ISL038	Isolated Focal Cortical Dysplasia Type Ib	6
2384		SVR046	Severe Lateral Tibial Bowing with Short Stature	6
2385		ERL041	Early-Onset Zonular Cataract	6
2386		CHN052	Choanal Atresia, Bilateral	6
2387		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	6
2388		DST088	Distal Trisomy 1p36	6
2389		DBL016	Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy	6
2390		BCR005	Bicervical Bicornuate Uterus and Blind Hemivagina	6
2391		CMP057	Complete Cryptophthalmia	6
2392		9Q3001	9q31.1q31.3 Microdeletion Syndrome	6
2393	P	CRB127	Cerebrofacial Arteriovenous Metameric Syndrome Type 3	6
2394		EXT043	External Auditory Canal Aplasia/hypoplasia	6
2395	c	ISL039	Isolated Focal Cortical Dysplasia Type Ic	6
2396		16Q002	16q24.1 Microdeletion Syndrome	6
2397		RDL019	Radio-Ulnar Synostosis, Unilateral	6
2398		14Q005	14q24.1q24.3 Microdeletion Syndrome	6
2399		PRT098	Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome	6
2400	c	LSS023	Lissencephaly with Cerebellar Hypoplasia Type C	6
2401		12Q001	12q15q21.1 Microdeletion Syndrome	6
2402		ISL028	Isolated Cerebellar Vermis Hypoplasia	6
2403		BCK010	Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion	6
2404		INT186	Intralobar Congenital Pulmonary Sequestration	6
2405		RDL020	Radio-Ulnar Synostosis, Bilateral	6
2406		HMR036	Humero-Ulnar Synostosis, Unilateral	6
2407		DST084	Distal Trisomy 8q	6
2408		CNG537	Congenital Anomaly of the Tricuspid Valve Chordae	6
2409	c	LSS021	Lissencephaly with Cerebellar Hypoplasia Type a	6
2410		ISL022	Isolated Congenital Nasal Pyriform Aperture Stenosis	6
2411		TRG018	Trigonocephaly-Broad Thumbs Syndrome	6
2412		CHN051	Choanal Atresia, Unilateral	6
2413		CRP029	Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	6
2414		CCH007	Cochleovestibular Dysplasia	6
2415	P	SYC001	Say Carpenter Syndrome	5
2416	c	GLC029	Glaucoma Type 1c	5
2417	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	5
2418	c	CNT094	Cantú Syndrome and Related Disorders	5
2419	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	5
2420	c	GLC035	Glaucoma, Primary Infantile Type 3a	5
2421	c	GLC033	Glaucoma, Hereditary Adult Type 1a	5
2422	c	SCN046	Secondary Short Bowel Syndrome	5
2423		ISL079	Isolated Encephalocele	5
2424	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	5
2425		CNG351	Congenital Partial Pulmonary Venous Return Anomaly	5
2426		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	5
2427		ART099	Aortic Valve Dysplasia	5
2428		INT285	Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome	5
2429		ATY020	Atypical Norrie Disease Due to Monosomy Xp11.3	5
2430		3Q2005	3q26q27 Microdeletion Syndrome	5
2431		MCR190	Macrodactyly of Toes, Unilateral	5
2432		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	5
2433		NND007	Non-Distal Monosomy 12q	5
2434		DST067	Distal Monosomy 14q	5
2435		MDN007	Median Cleft Lip/mandibule	5
2436	c	PTR020	Paternal Uniparental Disomy of Chromosome 20	5
2437		NND009	Non-Distal Trisomy 9q	5
2438	c	ATS022	Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract	5
2439		SYN096	Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication	5
2440		MCR188	Macrodactyly of Fingers, Unilateral	5
2441		DGS007	Digestive Duplication	5
2442		CNG334	Congenital Esophageal Diverticulum	5
2443		XYL001	Xylt1-Cdg	5
2444	c	BRN138	Branchiootorenal Spectrum Disorder	5
2445		ISL047	Isolated Unilateral Hemispheric Cerebellar Hypoplasia	5
2446		CMM017	Communicating Congenital Bronchopulmonary-Foregut Malformation	5
2447	P	LSS018	Lissencephaly with Cerebellar Hypoplasia Type F	5
2448		ISL056	Isolated Lissencephaly Type 1 Without Known Genetic Defects	5
2449		MDL018	Madelung Deformity, Unilateral	5
2450	c	CHR232	Chromosome 21, Uniparental Disomy	5
2451	P	CHR251	Chromosome 5, Uniparental Disomy	5
2452		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	5
2453		CNG331	Congenital Bilateral Megacalycosis	5
2454		CNG353	Congenital Partial Agenesis of Pericardium	5
2455	c	LSS019	Lissencephaly with Cerebellar Hypoplasia Type E	5
2456		ISL046	Isolated Bilateral Hemispheric Cerebellar Hypoplasia	5
2457		PRT091	Partial Cryptophthalmia	5
2458		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	5
2459		20Q002	20q11.2 Microduplication Syndrome	5
2460		ERL042	Early-Onset Partial Cataract	5
2461		UNL012	Unilateral Hemispheric Polymicrogyria	5
2462	c	LSS022	Lissencephaly with Cerebellar Hypoplasia Type D	5
2463		AML036	Amelia of Lower Limb	5
2464		CNG536	Congenital Stenosis or Atresia of the Coronary Ostium	5
2465		DBL013	Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect	5
2466		LWR011	Lower Lip Fistula	5
2467		CNG391	Congenital Pseudoarthrosis of the Limbs	5
2468	P	ISL048	Isolated Cerebellar Vermis Agenesis	5
2469		CNG354	Congenital Complete Agenesis of Pericardium	5
2470		UTR055	Uterine Cervical Aplasia and Agenesis	5
2471		AGN009	Agenesis and Aplasia of Uterine Body	5
2472		ISL051	Isolated Partial Cerebellar Vermis Agenesis	5
2473	c	ISL052	Isolated Total Cerebellar Vermis Agenesis	5
2474		PRM160	Premature Closure of the Arterial Duct	5
2475		ISL071	Isolated Congenital Ectropion	5
2476		FCL034	Facial Dermoid Cyst	5
2477		MDL017	Madelung Deformity, Bilateral	5
2478		16P011	16p12.1p12.3 Triplication Syndrome	5
2479		TRC084	Tricuspid Valve Agenesis	5
2480		PRS139	Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium	5
2481		PLM178	Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome	5
2482		CMM016	Commissural Lip Fistula	5
2483		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	5
2484		CNG517	Congenital Agenesis of the Scrotum	5
2485		UNL009	Unilateral Congenital Megacalycosis	5
2486		CHR512	Cheirospondyloenchondromatosis	5
2487		DYS128	Dysplasia of Head of Femur, Meyer Type	5
2488		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	5
2489		ERL027	Early-Onset Non-Syndromic Cataract	5
2490		ISL117	Isolated Congenital Radial Head Dislocation	5
2491		SBC038	Sub-Cortical Nodular Heterotopia	5
2492	c	WCR002	Wac-Related Intellectual Disability	5
2493	c	WDR002	Wdr26-Related Intellectual Disability	5
2494	c	TRR002	Trio-Related Intellectual Disability	5
2495	c	FRG006	Fragile X Syndrome Type 3	4
2496	c	FRG004	Fragile X Syndrome Type 1	4
2497	P	LGB001	Leg Absence Deformity Cataract	4
2498	c	FRG005	Fragile X Syndrome Type 2	4
2499		ISL044	Isolated Arhinencephaly	4
2500		ISL106	Isolated Congenital Microcephaly	4
2501		HYP506	Hypoplasia of the Mitral Valve Annulus	4
2502		OPN003	Open Iniencephaly	4
2503		INT219	Intramural Coronary Arterial Course	4
2504		CLS021	Closed Iniencephaly	4
2505	c	PTR021	Paternal Uniparental Disomy of Chromosome 21	4
2506		ENC035	Encircling Double Aortic Arch	4
2507		ISL107	Isolated Congenital Syngnathia	4
2508		MCR187	Macrodactyly of Fingers, Bilateral	4
2509	c	PTR022	Paternal Uniparental Disomy of Chromosome 7	4
2510		2P1003	2p13.2 Microdeletion Syndrome	4
2511	c	PRM147	Primary Megaureter, Adult-Onset Form	4
2512		CNG315	Congenital Vertical Talus, Unilateral	4
2513		CNG316	Congenital Vertical Talus, Bilateral	4
2514	P	TSS001	Tessier Number 5 Facial Cleft	4
2515	c	MTR079	Maternal Uniparental Disomy of Chromosome 13	4
2516		SPN339	Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	4
2517		MYB004	Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	4
2518		LWM001	Low Implantation of Placenta	4
2519		4Q2002	4q25 Proximal Deletion Syndrome	4
2520		MCR189	Macrodactyly of Toes, Bilateral	4
2521		MCR280	Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	4
2522	c	MTR065	Maternal Uniparental Disomy of Chromosome 21	4
2523	c	PTR023	Paternal Uniparental Disomy of Chromosome 13	4
2524	c	ARX002	Arx-Related Intellectual Disability	4
2525	c	ACS002	Acsl4-Related Intellectual Disability	4
2526	c	DDX001	Ddx3x-Related Intellectual Disability	4
2527		PRT109	Partially Involuting Congenital Hemangioma	4
2528		CNG493	Congenital Generalized Hypercontractile Muscle Stiffness Syndrome	4
2529		MTR068	Mitral Valve Agenesis	4
2530		CNG268	Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form	4
2531		MCR358	Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	4
2532		ISL127	Isolated Blepharochalasis	4
2533		STR076	Straddling and/or Overriding Mitral Valve	4
2534		ISL126	Isolated Iridoschisis	4
2535		ISL132	Isolated Megalopapilla	4
2536		BCK016	Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication	4
2537		PLM119	Pulmonary Artery Coming from Patent Ductus Arteriosus	4
2538		ABN010	Abnormal Number of Coronary Ostia	4
2539		CNG360	Congenital Unguarded Mitral Orifice	4
2540		CRN206	Coronary Artery Intramyocardial Course	4
2541		DSC011	Discrete Fibromuscular Subaortic Stenosis	4
2542		CNG361	Congenital Supravalvular Mitral Ring	4
2543		MLP005	Malposition of the Coronary Ostium	4
2544		UNV004	Univentricular Heart with Single Atrio-Ventricular Valve	4
2545		CNG270	Congenital Primary Megaureter, Obstructed Form	4
2546		LTH040	Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome	4
2547		XLN147	X-Linked Intellectual Disability, Stoll Type	4
2548		PNN004	Pinnae Fistula or Cyst	4
2549		XLN157	X-Linked Intellectual Disability, Porteous Type	4
2550		CNG269	Congenital Primary Megaureter, Refluxing Form	4
2551		ART114	Aortopulmonary Coronary Arterial Course	4
2552		CNG349	Congenital Patent Ductus Arteriosus Aneurysm	4
2553		ANM025	Anomaly of the Mitral Subvalvular Apparatus	4
2554		INT227	Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	4
2555		CRD212	Cardiac Anomalies-Heterotaxy Syndrome	4
2556		LPT012	Leptomyelolipoma	4
2557		TRC124	True Congenital Shoulder Dislocation	4
2558		STR075	Straddling or Overriding Tricuspid Valve	4
2559		SPR109	Supratip Dysplasia	4
2560		FRN038	Frontonasal Arteriovenous Malformation	4
2561		ISL035	Isolated Amyelia	4
2562		OVR117	Overgrowth Syndrome with 2q37 Translocation	4
2563		ISL130	Isolated Congenital Entropion	4
2564		SPR139	Superior Celosomia	4
2565	c	SYN028	Syngnathia Multiple Anomalies	4
2566		NSL027	Nasal Dorsum Fistula	4
2567		NNT001	Neonatal Infective Mastitis	4
2568		MDN006	Median Cleft of the Upper Lip and Maxilla	3
2569		CNT081	Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome	3
2570		SPG003	Spigelian Hernia-Cryptorchidism Syndrome	3
2571	c	TSS003	Tessier Number 6 Facial Cleft	3
2572		TBL020	Tubular Duplication of the Esophagus	3
2573		CNG322	Congenital Elbow Dislocation, Unilateral	3
2574		SGM005	Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia	3
2575		CNG317	Congenital Genu Flexum	3
2576		CNG321	Congenital Elbow Dislocation, Bilateral	3
2577		DPH029	Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome	3
2578	c	BMN003	Biemond Syndrome Type 1	3
2579		GLP005	Glioependymal/ependymal Cyst	3
2580		CRV059	Cervicofacial Fibrochondroma	3
2581		INT248	Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	3
2582		INT305	Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	3
2583		EPB005	Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome	3
2584		EMB004	Embryonal Carcinoma	59
2585		PRL032	Perlman Syndrome	43
2586	c	WLM018	Wilms Tumor 5	64
2587	c	WLM011	Wilms Tumor 6	40
2588	P	HRD009	Hereditary Wilms' Tumor	38
2589	c	WLM005	Wilms Tumor 2	22
2590	c	WLM017	Wilms Tumor 4	19
2591	c	WLM015	Wilms Tumor 3	16
2592	c	FML094	Familial Wilms Tumor 2	7
2593	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	40
2594		IMM039	Immune Hydrops Fetalis	34
2595	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	13
2596		TST033	Testicular Regression Syndrome	35
2597	P	END039	Endodermal Sinus Tumor	47
2598		TRT001	Teratocarcinoma	41
2599	c	ADL047	Adult Endodermal Sinus Tumor	9
2600	P	LFT003	Left Ventricular Noncompaction	55
2601	P	BTR001	Botryoid Rhabdomyosarcoma	40
2602		FTL012	Fetal and Neonatal Alloimmune Thrombocytopenia	39
2603	c	PRS122	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	32
2604	c	LFT021	Left Ventricular Noncompaction 1	30
2605	c	LFT017	Left Ventricular Noncompaction 8	22
2606	c	LFT018	Left Ventricular Noncompaction 10	21
2607	c	LFT020	Left Ventricular Noncompaction 7	16
2608	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	14
2609	c	LFT011	Left Ventricular Noncompaction 2	13
2610	c	ADL031	Adult Botryoid Rhabdomyosarcoma	6
2611	c	HYD046	Hydatidiform Mole, Recurrent, 1	57
2612		GRM005	Germ Cell Cancer	53
2613	P	RNL028	Renal Tubular Dysgenesis	51
2614	P	PRV002	Periventricular Nodular Heterotopia	50
2615	P	ENC008	Encephalocele	48
2616		EMB007	Embryonal Sarcoma	47
2617		OST022	Osteopathia Striata with Cranial Sclerosis	45
2618		INT324	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies	44
2619		SPR008	Supratentorial Primitive Neuroectodermal Tumor	43
2620		GRN013	Greenberg Dysplasia	34
2621	c	PRV019	Periventricular Nodular Heterotopia 1	32
2622	c	LTH042	Lethal Congenital Contracture Syndrome 10	24
2623		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	24
2624	c	PRV018	Periventricular Nodular Heterotopia 7	22
2625	c	FLN007	Flna-Related Periventricular Nodular Heterotopia	20
2626	c	PRV021	Periventricular Nodular Heterotopia 8	20
2627		WLL022	Well-Differentiated Fetal Adenocarcinoma of the Lung	13
2628	P	FTL014	Fetal Brain Disruption Sequence	11
2629		CHL031	Childhood Vagina Botryoid Rhabdomyosarcoma	8
2630	c	RNL090	Renal Tubular Dysgenesis Due to Twin-Twin Transfusion	6
2631		FTL017	Fetal Enterovirus Syndrome	2
2632		WRN001	Werner Syndrome	73
2633	c	BTT014	Beta-Thalassemia	72
2634	c	MYT021	Myotonic Dystrophy 1	71
2635		LPD012	Lipoid Congenital Adrenal Hyperplasia	71
2636		DWN001	Down Syndrome	71
2637	P	TTR001	Tetralogy of Fallot	70
2638		BRT054	Brittle Bone Disorder	70
2639	P	CWD010	Cowden Syndrome	68
2640	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	68
2641		ACH004	Achondroplasia	68
2642		SCH036	Scheie Syndrome	67
2643	P	DYS154	Dystonia	65
2644	P	HLP001	Holoprosencephaly	65
2645	P	THL005	Thalassemia	65
2646	c	MCP001	Mucopolysaccharidosis Iii	63
2647	P	BRD002	Bardet-Biedl Syndrome	63
2648	c	ATS013	Autosomal Recessive Congenital Ichthyosis	62
2649	P	INT068	Intestinal Disease	62
2650	P	PRD006	Prader-Willi Syndrome	61
2651	c	MCP052	Mucopolysaccharidosis, Type Vi	61
2652		DGR001	Digeorge Syndrome	61
2653	P	CMR001	Camurati-Engelmann Disease	61
2654		NRM019	Neuraminidase Deficiency	60
2655		FCL081	Focal Cortical Dysplasia, Type Ii	60
2656	c	ALP101	Alpha-Thalassemia	60
2657		MCR013	Microphthalmia	60
2658		BRN056	Bronchopulmonary Dysplasia	60
2659		ELL001	Ellis-Van Creveld Syndrome	60
2660	c	BRD014	Bardet-Biedl Syndrome 2	60
2661		SPN060	Spondylocarpotarsal Synostosis Syndrome	59
2662	c	PCH015	Pachyonychia Congenita 1	59
2663		ART141	Arteriovenous Malformations of the Brain	59
2664	P	DNT020	Dent Disease 1	59
2665		ART001	Arterial Tortuosity Syndrome	59
2666	c	MCP004	Mucopolysaccharidosis Iv	59
2667	c	BRD010	Bardet-Biedl Syndrome 1	59
2668	c	ORF040	Orofaciodigital Syndrome Viii	59
2669	c	VSC019	Vesicoureteral Reflux 1	58
2670		PRN019	Perinatal Necrotizing Enterocolitis	58
2671	P	OST080	Osteogenesis Imperfecta, Type Ii	58
2672		HYP042	Hypochondroplasia	58
2673	c	OST122	Osteogenesis Imperfecta, Type Iii	58
2674	P	RNL100	Renal Hypodysplasia/aplasia 1	58
2675	P	HYP040	Hypospadias	58
2676	P	BCK002	Beckwith-Wiedemann Syndrome	58
2677	c	LYS021	Loeys-Dietz Syndrome 3	57
2678	P	CRN038	Carney Complex Variant	57
2679	P	HYP035	Hypophosphatasia	57
2680	c	HYP535	Hypogonadotropic Hypogonadism 7 with or Without Anosmia	57
2681		PLC005	Placental Insufficiency	57
2682	P	WRD001	Waardenburg's Syndrome	57
2683	P	SHR029	Short Syndrome	57
2684		YMN001	Yemenite Deaf-Blind Hypopigmentation Syndrome	57
2685	c	OST135	Osteogenesis Imperfecta, Type I	57
2686		RTN209	Retinoschisis 1, X-Linked, Juvenile	57
2687	c	CNG216	Congenital Hydrocephalus	57
2688		MCN007	Meconium Aspiration Syndrome	57
2689		MCN017	Meconium Ileus	56
2690		VTM027	Vitamin D-Dependent Rickets, Type 2a	56
2691	c	MCL046	Mucolipidosis Iii Alpha/beta	56
2692		CLS005	Clouston Syndrome	56
2693		END081	Endosteal Hyperostosis, Autosomal Dominant	56
2694		ODN023	Odontochondrodysplasia	56
2695	c	OST164	Osteoporosis, Juvenile	56
2696		ADR056	Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete	56
2697	P	INT070	Intestinal Obstruction	55
2698	c	CHR627	Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	55
2699		ATX031	Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus	55
2700	c	CHR320	Chiari Malformation Type I	55
2701	P	PTS002	Ptosis	55
2702	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	54
2703		PPL049	Papillon-Lefevre Syndrome	54
2704		GST009	Gastroschisis	54
2705	P	STS008	Sotos Syndrome 1	54
2706		CLB010	Coloboma of Macula	54
2707	P	EPD009	Epidermolysis Bullosa Dystrophica	54
2708		PSD012	Pseudoachondroplasia	54
2709		ENC044	Enchondromatosis, Multiple, Ollier Type	54
2710	P	NLD001	Nail Disease	54
2711	P	BRT029	Brittle Cornea Syndrome 2	54
2712		NLP001	Nail-Patella Syndrome	54
2713	c	HYP293	Hypophosphatasia, Adult	54
2714		DNY001	Denys-Drash Syndrome	54
2715		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	54
2716		MLL018	Miller-Dieker Lissencephaly Syndrome	54
2717		CTS003	Coats Disease	54
2718	P	INT099	Intrahepatic Cholestasis of Pregnancy	53
2719		HYP691	Hypomelanosis of Ito	53
2720		MYL020	Myelomeningocele	53
2721	c	LSS005	Lissencephaly 1	53
2722	P	CNG499	Congenital Anomalies of Kidney and Urinary Tract 2	53
2723		OST044	Osteoglophonic Dysplasia	53
2724	c	RNL122	Renal Hypodysplasia/aplasia 3	53
2725	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
2726		OST032	Osteofibrous Dysplasia	52
2727		SPR004	Supravalvular Aortic Stenosis	52
2728		DST005	Diastrophic Dysplasia	52