Fetal Diseases Category (4509 diseases)

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

#	Family	MCID	Name	MIFTS
1		HYD038	Hydrops Fetalis, Nonimmune	50
2		HYD012	Hydrops Fetalis	52
3	P	EMB005	Embryonal Rhabdomyosarcoma	54
4		MCR078	Microphthalmia Microtia Fetal Akinesia	18
5		FTL028	Fetal Retinoid Syndrome	15
6		VLP002	Valproate Embryopathy	47
7		MTH070	Methimazole Antenatal Exposure	20
8		ACT091	Acitretin Embryopathy	6
9	c	LYM145	Lymphatic Malformation 5	51
10	c	FTL006	Fetal Alcohol Spectrum Disorder	50
11	P	LYM127	Lymphatic Malformations	50
12	c	LYM150	Lymphatic Malformation 7	40
13	c	LYM144	Lymphatic Malformation 1	40
14	P	PRG092	Pregnancy Loss, Recurrent 1	33
15		FTL007	Fetal Hydantoin Syndrome	31
16	c	LYM148	Lymphatic Malformation 4	23
17	c	LYM147	Lymphatic Malformation 3	21
18	c	LYM146	Lymphatic Malformation 2	15
19		IST007	Isotretinoin Embryopathy-Like Syndrome	25
20		IST006	Isotretinoin Syndrome	23
21		NCH001	Nuchal Bleb, Familial	31
22	P	PRM252	Preimplantation Embryonic Lethality 1	17
23	P	OTS002	Otospondylomegaepiphyseal Dysplasia	44
24	c	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	43
25	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	43
26		EMB006	Embryonal Testis Carcinoma	36
27	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	28
28		MCR207	Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma	18
29		CHL043	Childhood Embryonal Testis Carcinoma	9
30	P	FTL001	Fetal Alcohol Syndrome	64
31	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	22
32	P	CNT003	Central Nervous System Embryonal Carcinoma	10
33		CRD031	Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification	8
34		PRP094	Propylthiouracil Embryofetopathy	5
35		PRS030	Persistent Fetal Circulation Syndrome	46
36	P	PNT019	Pontocerebellar Hypoplasia	43
37	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	43
38	c	PNT036	Pontocerebellar Hypoplasia, Type 6	42
39		OVR050	Ovarian Embryonal Carcinoma	41
40	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	40
41	c	PNT010	Pontocerebellar Hypoplasia Type 1	39
42		FTL004	Fetal Erythroblastosis	39
43	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	38
44	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	34
45	c	PNT037	Pontocerebellar Hypoplasia, Type 3	32
46	c	PNT043	Pontocerebellar Hypoplasia, Type 4	32
47	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	32
48	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	30
49	c	PNT032	Pontocerebellar Hypoplasia, Type 9	30
50	c	PNT033	Pontocerebellar Hypoplasia, Type 10	30
51	c	PNT046	Pontocerebellar Hypoplasia, Type 5	28
52	c	PNT039	Pontocerebellar Hypoplasia, Type 7	26
53	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	25
54	c	PNT050	Pontocerebellar Hypoplasia, Type 11	25
55	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	25
56	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	25
57	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
58	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	21
59	c	PNT052	Pontocerebellar Hypoplasia, Type 12	14
60	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	10
61		CHL026	Childhood Ovarian Embryonal Carcinoma	9
62	c	ADL007	Adult Central Nervous System Embryonal Carcinoma	9
63	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	8
64		AMN013	Aminopterin/methotrexate Embryofetopathy	18
65		ACT206	Acitretin/etretinate Embryopathy	17
66		FTL066	Fetal Akinesia Syndrome, X-Linked	14
67	P	TXP001	Toxoplasmosis	65
68	c	CNG021	Congenital Toxoplasmosis	57
69		CCN007	Cocoon Syndrome	43
70		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	20
71		FTL029	Fetal Thalidomide Syndrome	32
72		GRM001	Germ Cell and Embryonal Cancer	30
73		INT041	Intratubular Embryonal Carcinoma	28
74	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	16
75	c	PRM251	Preimplantation Embryonic Lethality 2	13
76		PDT006	Pediatric Cns Embryonal Cell Carcinoma	8
77	P	CTR002	Cataract	58
78	P	PRS062	Persistent Hyperplastic Primary Vitreous	40
79	c	CTR115	Cataract 16, Multiple Types	38
80	c	CTR170	Cataract 30, Multiple Types	37
81	c	CTR141	Cataract 21, Multiple Types	33
82	c	CTR118	Cataract 14, Multiple Types	33
83	c	CTR122	Cataract 5, Multiple Types	33
84	c	CTR103	Cataract 4, Multiple Types	32
85	c	CTR145	Cataract 44	32
86	c	CTR158	Cataract 37	31
87	c	CTR125	Cataract 7	30
88	c	CTR096	Cataract 6, Multiple Types	29
89	c	CTR102	Cataract 2, Multiple Types	29
90		FTL062	Fetal Iodine Deficiency Disorder	29
91	c	CTR175	Cataract 24	28
92	c	CTR121	Cataract 25	28
93	c	CTR174	Cataract 40	27
94	c	CTR129	Cataract 31, Multiple Types	26
95	c	CTR113	Cataract 11, Multiple Types	26
96		FTL016	Fetal Edema	25
97	c	CTR169	Cataract 29	24
98	c	CTR166	Cataract 33, Multiple Types	23
99	c	CTR181	Cataract 18	23
100	c	CTR119	Cataract 32, Multiple Types	23
101	c	CTR131	Cataract 17, Multiple Types	23
102	c	CTR180	Cataract 22, Multiple Types	22
103	c	CTR162	Cataract 47	22
104	c	CTR165	Cataract 19, Multiple Types	22
105	c	CTR184	Cataract 39, Multiple Types	22
106	c	CTR159	Cataract 35	20
107	c	CTR183	Cataract 38	20
108	c	CTR163	Cataract 46, Juvenile-Onset	20
109	c	CTR097	Cataract 34, Multiple Types	20
110	c	CTR111	Cataract 36	20
111	c	CTR139	Cataract 42	19
112	c	CTR110	Cataract 26, Multiple Types	19
113	c	CTR157	Cataract 28	18
114	c	CTR106	Cataract 20, Multiple Types	18
115	c	CTR144	Cataract 43	18
116	c	CTR185	Cataract 30	18
117	c	CTR160	Cataract 45	18
118		ORB002	Orbit Embryonal Rhabdomyosarcoma	18
119		CCN010	Cocaine Embryofetopathy	18
120	c	CTR178	Cataract 27	17
121		MYC060	Mycophenolate Mofetil Embryopathy	17
122		PRS010	Prostate Embryonal Rhabdomyosarcoma	16
123	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	15
124	c	CTR128	Cataract 33	14
125	c	CTR025	Cataract, Total Congenital	14
126	c	PRS137	Persistent Hyperplastic Primary Vitreous, Autosomal Dominant	9
127	c	CTR008	Cataract Congenital Autosomal Dominant	7
128		EMB001	Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma	7
129		VLV013	Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma	6
130		NNC014	Non-Central Nervous System-Localized Embryonal Carcinoma	6
131		HYD027	Hydrops Fetalis Anemia Immune Disorder Absent Thumb	3
132		HRP013	Herpetic Embryopathy	2
133		VTM006	Vitamin a Embryopathy	2
134	c	RBN009	Robinow Syndrome, Autosomal Recessive	47
135	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	42
136		EMB002	Embryoma	45
137		ALC001	Alcohol-Related Birth Defect	42
138		PRT001	Partial Fetal Alcohol Syndrome	23
139		PRM208	Parameningeal Embryonal Rhabdomyosarcoma	17
140		FTL058	Fetal Trimethadione Syndrome	17
141		FTL026	Fetal Parvovirus Syndrome	16
142		DFN191	Deafness, Congenital Heart Defects, and Posterior Embryotoxon	13
143	P	MCK013	Meckel Syndrome, Type 1	63
144	P	NML001	Nemaline Myopathy	48
145	c	NML002	Nemaline Myopathy 1	48
146		FTL021	Fetal Macrosomia	47
147	c	NML003	Nemaline Myopathy 2	46
148	c	LTH008	Lethal Congenital Contracture Syndrome 2	45
149	c	ATS082	Autosomal Dominant Robinow Syndrome	45
150	c	MCK012	Meckel Syndrome, Type 6	42
151	c	NML004	Nemaline Myopathy 3	41
152	c	MCK032	Meckel Syndrome, Type 3	41
153	c	NML005	Nemaline Myopathy 4	38
154	c	MCK031	Meckel Syndrome, Type 2	37
155	c	MCK033	Meckel Syndrome, Type 4	36
156	c	MCK030	Meckel Syndrome, Type 7	36
157	c	MCK014	Meckel Syndrome, Type 5	35
158	c	NML006	Nemaline Myopathy 5	35
159	c	SVR040	Severe Congenital Nemaline Myopathy	35
160	c	MCK034	Meckel Syndrome, Type 8	31
161	c	INT274	Intermediate Congenital Nemaline Myopathy	31
162		FTL005	Fetal Adenoma	30
163	c	CTR132	Cataract 3, Multiple Types	30
164	P	LTH003	Lethal Congenital Contracture Syndrome	29
165	c	LTH027	Lethal Congenital Contracture Syndrome 5	26
166		PRX085	Preaxial Hallucal Polydactyly	25
167	c	ADL068	Adult-Onset Nemaline Myopathy	25
168	c	MCK028	Meckel Syndrome 13	25
169	c	MCK035	Meckel Syndrome, Type 10	23
170	c	LTH031	Lethal Congenital Contracture Syndrome 6	23
171	c	NML007	Nemaline Myopathy 6	23
172	c	LTH047	Lethal Congenital Contracture Syndrome 3	23
173	c	LTH039	Lethal Congenital Contracture Syndrome 11	23
174	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	22
175	c	MCK026	Meckel Syndrome 12	22
176	c	LTH029	Lethal Congenital Contracture Syndrome 9	22
177	c	NML010	Nemaline Myopathy 7	21
178	c	NML025	Nemaline Myopathy 8	21
179	c	NML021	Nemaline Myopathy 9	20
180	c	MCK036	Meckel Syndrome, Type 9	20
181		HLP020	Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence	19
182	c	MCK020	Meckel Syndrome, Type 11	19
183	c	LTH026	Lethal Congenital Contracture Syndrome 4	18
184		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	17
185		PRV001	Parovarian Cyst	16
186		FTL044	Fetal Cytomegalovirus Syndrome	15
187		CHL030	Childhood Botryoid Rhabdomyosarcoma	14
188	c	SPR105	Sporadic Fetal Brain Disruption Sequence	14
189		HYD062	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features	12
190	c	RR2001	Ror2-Related Robinow Syndrome	12
191		FTL048	Fetal Lung Interstitial Tumor	12
192		EMB014	Embryonary Disorganization Syndrome	12
193		THY113	Thymic Aplasia with Fetal Death	9
194	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	8
195		FTL020	Fetal Left Ventricular Aneurysm	7
196		MXD015	Mixed Type Rhabdomyosarcoma	5
197		FTL049	Fetal Carbamazepine Syndrome	5
198		LSS032	Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome	5
199		FTL063	Fetal Nicotine Spectrum Disorder	3
200		SMT021	Somatomedin, Embryonic	3
201		FTL025	Fetal Parainfluenza Virus Type 3 Syndrome	2
202		FTL027	Fetal Phenothiazine Syndrome	2
203	P	ATX030	Ataxia-Telangiectasia	83
204	P	FNC027	Fanconi Anemia, Complementation Group a	81
205		PFF001	Pfeiffer Syndrome	79
206	P	NNN008	Noonan Syndrome 1	79
207		KPS004	Kaposi Sarcoma	77
208	P	NRF023	Neurofibromatosis, Type Ii	76
209		MRF001	Marfan Syndrome	76
210		PHN003	Phenylketonuria	75
211	P	FML011	Familial Adenomatous Polyposis	72
212	P	TRN020	Turner Syndrome	72
213		VNH007	Von Hippel-Lindau Syndrome	72
214		FBR012	Fabry Disease	72
215	P	ALG028	Alagille Syndrome 1	71
216	P	DMN001	Diamond-Blackfan Anemia	71
217	P	FRG001	Fragile X Syndrome	70
218	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	69
219		SMT004	Smith-Lemli-Opitz Syndrome	69
220	P	PSD087	Pseudoxanthoma Elasticum	68
221	c	ART101	Aortic Valve Disease 2	68
222	P	DYS007	Dyskeratosis Congenita	67
223	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
224	P	KBK002	Kabuki Syndrome 1	67
225	c	FML346	Familial Adenomatous Polyposis 1	67
226	c	MCP050	Mucopolysaccharidosis, Type Ii	67
227		INC021	Incontinentia Pigmenti	67
228	P	HYD006	Hydrocephalus	66
229	P	CCK001	Cockayne Syndrome	66
230	c	NNN010	Noonan Syndrome 3	66
231		MCC012	Mccune-Albright Syndrome	65
232	P	ANG001	Angelman Syndrome	65
233		CST001	Costello Syndrome	65
234	c	MCP049	Mucopolysaccharidosis, Type Vii	65
235		NRR002	Norrie Disease	65
236	P	BRD002	Bardet-Biedl Syndrome	65
237	P	CRD224	Cardiofaciocutaneous Syndrome 1	65
238		WLL001	Williams-Beuren Syndrome	64
239	P	SHW006	Shwachman-Diamond Syndrome 1	64
240	P	OST001	Osteopetrosis	63
241	P	CTS001	Cutis Laxa	62
242	P	EHL001	Ehlers-Danlos Syndrome	62
243		KLP010	Klippel-Trenaunay-Weber Syndrome	61
244	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
245	P	JVN014	Juvenile Polyposis Syndrome	61
246		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	61
247		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	61
248	P	VNT002	Ventricular Septal Defect	61
249		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	61
250	c	BRD014	Bardet-Biedl Syndrome 2	61
251		NWB001	Newborn Respiratory Distress Syndrome	61
252	P	WLF004	Wolfram Syndrome	60
253	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
254		CFF002	Coffin-Lowry Syndrome	60
255		NTH001	Netherton Syndrome	60
256	P	OCL013	Oculodentodigital Dysplasia	59
257	P	DST002	Distal Arthrogryposis	59
258	c	PRX045	Peroxisome Biogenesis Disorder 1b	59
259		ANG020	Angiosarcoma	59
260	c	CRP023	Carpenter Syndrome 1	59
261		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	59
262		STR039	Sturge-Weber Syndrome	58
263	c	BRD010	Bardet-Biedl Syndrome 1	58
264		ANN002	Anencephaly	58
265	P	PLY006	Polydactyly	58
266	P	MLT007	Multiple Epiphyseal Dysplasia	58
267	P	SYP003	Syphilis	58
268	P	ICH004	Ichthyosis	57
269		LCR014	Lacrimoauriculodentodigital Syndrome	57
270	c	CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	56
271	P	PRM011	Primary Ciliary Dyskinesia	56
272		ART002	Arts Syndrome	56
273	P	HLL001	Hallermann-Streiff Syndrome	56
274	P	CRN108	Cranioectodermal Dysplasia 1	56
275		CLF004	Cleft Lip/palate	56
276		HRL003	Hurler Syndrome	55
277	c	NNN012	Noonan Syndrome 5	55
278	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	55
279	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
280		OST024	Osteoporosis-Pseudoglioma Syndrome	55
281	P	PTS002	Ptosis	55
282	c	WLF013	Wolfram Syndrome 1	54
283		MLT135	Multiple Sulfatase Deficiency	54
284		ABL002	Ablepharon-Macrostomia Syndrome	54
285		CHR005	Chorioamnionitis	53
286	c	DMN023	Diamond-Blackfan Anemia 1	53
287		OLG003	Oligohydramnios	53
288	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	53
289	P	TRT010	Teratoma	53
290	c	WRD033	Waardenburg Syndrome, Type 2e	53
291		RGH009	Right Atrial Isomerism	53
292	P	OMP004	Omphalocele	52
293		NNT012	Neonatal Jaundice	52
294		RNP003	Renpenning Syndrome 1	52
295	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
296	c	CLR131	Ciliary Dyskinesia, Primary, 1	52
297		CCH002	Coach Syndrome	52
298	c	MCR256	Microphthalmia, Syndromic 9	52
299		HMF009	Hemifacial Hyperplasia	52
300	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	52
301	c	BRD012	Bardet-Biedl Syndrome 11	52
302	P	VSC013	Visceral Heterotaxy	51
303	c	NNN009	Noonan Syndrome 2	51
304		PLC007	Placental Abruption	51
305		VTR016	Vater/vacterl Association	51
306	c	OST163	Osteopetrosis, Autosomal Recessive 3	51
307	c	PRX059	Peroxisome Biogenesis Disorder 1a	51
308	P	SYR001	Syringomyelia	51
309	c	CCK008	Cockayne Syndrome a	51
310		HNN001	Hennekam Syndrome	51
311		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	51
312		CTY001	Cat Eye Syndrome	51
313	P	VNB005	Van Buchem Disease	51
314	c	CCK007	Cockayne Syndrome B	51
315	c	ART144	Arthrogryposis, Distal, Type 1a	50
316	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
317	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	50
318	P	SMP003	Simpson-Golabi-Behmel Syndrome	50
319	c	ACH041	Achondrogenesis, Type Ii	50
320	P	ART018	Aortic Valve Insufficiency	50
321		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	50
322	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	50
323	P	ART084	Arteriovenous Fistula	50
324	P	NLX004	Neu-Laxova Syndrome 1	50
325	P	EPT020	Epithelioid Hemangioendothelioma	50
326	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	49
327		NVS001	Neovascular Glaucoma	49
328	P	LSS002	Lissencephaly	49
329	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	49
330	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
331	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	49
332	c	BRD013	Bardet-Biedl Syndrome 12	49
333	P	ERL057	Early Infantile Epileptic Encephalopathy	49
334	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	49
335		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	48
336	P	HRN001	Horner's Syndrome	48
337	P	CRN074	Coronary Artery Aneurysm	48
338		JHN001	Johanson-Blizzard Syndrome	48
339		ACR058	Acrofacial Dysostosis 1, Nager Type	48
340		HYP347	Hypotonia-Cystinuria Syndrome	48
341	P	NNT009	Neonatal Diabetes Mellitus	48
342	c	OPT051	Opitz Gbbb Syndrome, Type I	48
343	P	ANT088	Anterior Segment Dysgenesis	48
344	P	ENC008	Encephalocele	48
345	c	USH037	Usher Syndrome, Type Iia	47
346	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	47
347	c	WRD032	Waardenburg Syndrome, Type 2a	47
348	c	ACH042	Achondrogenesis, Type Ib	47
349	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	47
350	c	WRD020	Waardenburg Syndrome, Type 4a	47
351	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	47
352		PLC001	Placenta Accreta	47
353		MCR165	Microphthalmia with Limb Anomalies	47
354	P	FNG006	Feingold Syndrome 1	47
355	c	USH035	Usher Syndrome Type 2	47
356	c	MLG081	Malignant Teratoma	47
357	c	BRD044	Bardet-Biedl Syndrome 17	47
358	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	47
359	P	DNR001	Duane Retraction Syndrome	46
360	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	46
361		KBG001	Kbg Syndrome	46
362	c	TRC092	Trichorhinophalangeal Syndrome, Type I	46
363		TRC109	Tracheoesophageal Fistula with or Without Esophageal Atresia	46
364	c	BRD016	Bardet-Biedl Syndrome 4	46
365	c	USH021	Usher Syndrome, Type Iid	46
366		CHN065	Choanal Atresia, Posterior	46
367		PLY012	Polyhydramnios	46
368	P	RDL002	Radioulnar Synostosis	46
369		MDL020	Midline Interhemispheric Variant of Holoprosencephaly	46
370	c	OST129	Osteopetrosis, Autosomal Recessive 2	46
371	P	MCL001	Mucolipidosis	46
372	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
373	P	KLF001	Kleefstra Syndrome	46
374		RST011	Restrictive Dermopathy, Lethal	45
375	c	SCK009	Seckel Syndrome 1	45
376	c	WRD019	Waardenburg Syndrome, Type 4b	45
377	c	ACH033	Achondrogenesis, Type Ia	45
378		PLL008	Pallister-Killian Syndrome	45
379		MRG013	Mirage Syndrome	45
380		SHR098	Short-Rib Thoracic Dysplasia 12	45
381	c	WRD031	Waardenburg Syndrome, Type 3	45
382		MLB001	Mulibrey Nanism	45
383		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	45
384	c	BRD032	Bardet-Biedl Syndrome 14	45
385	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	45
386	c	BRD011	Bardet-Biedl Syndrome 10	45
387		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	45
388		MCR173	Microform Holoprosencephaly	45
389	P	HRD086	Hereditary Hypophosphatemic Rickets	45
390	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	45
391		MWT001	Mowat-Wilson Syndrome	44
392	c	TRN032	Transient Neonatal Diabetes Mellitus	44
393	c	NNN013	Noonan Syndrome 6	44
394	c	PRM022	Primary Syphilis	44
395		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	44
396	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	44
397	c	OPT050	Opitz Gbbb Syndrome, Type Ii	44
398	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	44
399	c	ANT077	Anterior Segment Dysgenesis 1	43
400	c	BRD020	Bardet-Biedl Syndrome 8	43
401	c	ICH049	Ichthyosis, Congenital, Autosomal Recessive 2	43
402	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	43
403	c	NNN011	Noonan Syndrome 4	43
404		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	43
405	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	43
406	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	43
407		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	43
408	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	43
409	c	FNC058	Fanconi Anemia, Complementation Group R	43
410		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	43
411	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	42
412	P	OCY003	Oocyte Maturation Defect 1	42
413		ANM001	Anemia of Prematurity	42
414	c	BRT050	Bartter Syndrome, Type 2, Antenatal	42
415	c	BRD033	Bardet-Biedl Syndrome 13	42
416	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	42
417	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	42
418	c	FNC023	Fanconi Anemia, Complementation Group N	42
419	c	BRD048	Bardet-Biedl Syndrome 18	42
420	c	RTS003	Ritscher-Schinzel Syndrome 1	42
421		SPN331	Spondyloocular Syndrome	42
422		HYL004	Hyaline Fibromatosis Syndrome	42
423	c	FNC057	Fanconi Anemia, Complementation Group U	42
424	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	41
425	c	FNC056	Fanconi Anemia, Complementation Group V	41
426		DBT090	Diabetes and Deafness, Maternally Inherited	41
427	c	MCR263	Microphthalmia, Syndromic 1	41
428		NNC002	Nance-Horan Syndrome	41
429	c	BRD015	Bardet-Biedl Syndrome 3	41
430	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	41
431	P	ACH011	Achondrogenesis	41
432	c	CTR130	Cataract 9, Multiple Types	41
433	c	FNC028	Fanconi Anemia, Complementation Group L	41
434		MYH012	Myhre Syndrome	41
435	c	MCL016	Mucolipidosis Iii Gamma	41
436	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	41
437	c	MCR261	Microphthalmia, Syndromic 2	41
438	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	41
439		GNT031	Genitopatellar Syndrome	41
440	c	CNG033	Congenital Syphilis	41
441	c	FNC029	Fanconi Anemia, Complementation Group I	41
442		CHR382	Chromosome 18q Deletion Syndrome	41
443	P	CRC039	Coarctation of Aorta	40
444	P	MCR364	Macrodactyly	40
445	c	HYD064	Hydrocephalus, Congenital, 1	40
446	c	GLC083	Glaucoma 3, Primary Infantile, B	40
447	c	USH040	Usher Syndrome, Type Id	40
448		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	40
449	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	40
450	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	40
451	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
452		ISL121	Isolated Split Hand-Split Foot Malformation	40
453		SCR035	Sacral Agenesis with Vertebral Anomalies	40
454	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	40
455	c	OTP007	Otopalatodigital Syndrome, Type Ii	40
456		BRB006	Barber-Say Syndrome	40
457	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	40
458	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	40
459	c	BRD018	Bardet-Biedl Syndrome 6	40
460	c	USH020	Usher Syndrome, Type Iic	40
461	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	40
462	c	CTR098	Cataract 1, Multiple Types	40
463	c	SCK015	Seckel Syndrome 2	40
464	c	NNN024	Noonan Syndrome 9	40
465	c	NNN021	Noonan Syndrome 8	40
466		HRL004	Hurler-Scheie Syndrome	39
467	c	FNC046	Fanconi Anemia, Complementation Group P	39
468	c	SCN006	Secondary Syphilis	39
469	c	FNC025	Fanconi Anemia, Complementation Group J	39
470	c	VNM003	Van Maldergem Syndrome 1	39
471	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	39
472		CHR386	Chromosome 6pter-P24 Deletion Syndrome	39
473	c	DNR003	Duane Retraction Syndrome 1	39
474	c	MLG145	Malignant Epithelioid Hemangioendothelioma	39
475	c	BRD035	Bardet-Biedl Syndrome 15	39
476	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
477		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	39
478		PLC009	Placenta Praevia	39
479	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	39
480	c	BRD017	Bardet-Biedl Syndrome 5	39
481		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	39
482		CHR667	Chromosome 3pter-P25 Deletion Syndrome	39
483	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	38
484	P	PRT042	Parietal Foramina	38
485		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	38
486	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	38
487	c	OST126	Osteopetrosis, Autosomal Recessive 1	38
488		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	38
489	c	MNS014	Monosomy 22	38
490	P	MNN007	Meningocele	38
491		DPH019	Diaphanospondylodysostosis	38
492	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	38
493	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	38
494	c	USH039	Usher Syndrome, Type Ic	38
495	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	38
496		CHR010	Chorioangioma	38
497		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	38
498		MNT309	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1	38
499	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
500		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	37
501		SML028	Semilobar Holoprosencephaly	37
502	P	CMM008	Communicating Hydrocephalus	37
503	c	PRM032	Primary Congenital Glaucoma	37
504	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
505		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	37
506	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	37
507		OHD005	Ohdo Syndrome, Sbbys Variant	37
508	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	37
509	c	ATS076	Autosomal Recessive Stickler Syndrome	37
510	c	WRD024	Waardenburg Syndrome, Type 4c	37
511	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
512	c	ANT071	Anterior Segment Dysgenesis 4	37
513		SPN012	Spindle Cell Hemangioma	37
514	c	CNG513	Congenital Ptosis	37
515	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	36
516	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	36
517		CHR387	Chromosome Xp21 Deletion Syndrome	36
518		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	36
519	P	JVN008	Juvenile Glaucoma	36
520		MND025	Mandibulofacial Dysostosis with Alopecia	36
521		ALB014	Alobar Holoprosencephaly	36
522	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	36
523	P	GLP001	Geleophysic Dysplasia	36
524	c	USH041	Usher Syndrome, Type if	36
525	c	ICH051	Ichthyosis, Congenital, Autosomal Recessive 11	36
526	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	36
527	c	NNN025	Noonan Syndrome 10	36
528	c	USH042	Usher Syndrome, Type Ig	36
529		GPS001	Gapo Syndrome	36
530		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	36
531	c	BRD045	Bardet-Biedl Syndrome 19	36
532	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	36
533		CHR501	Chromosome 17q12 Deletion Syndrome	36
534	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
535		LBR025	Lobar Holoprosencephaly	36
536	c	FNC048	Fanconi Anemia, Complementation Group O	36
537	P	DXT004	Dextro-Looped Transposition of the Great Arteries	36
538	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	36
539	P	ANT061	Antenatal Bartter Syndrome	35
540	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	35
541	c	FNC062	Fanconi Anemia, Complementation Group S	35
542		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	35
543	c	MCP051	Mucopolysaccharidosis, Type Ix	35
544		EPP011	Epiphyseal Chondrodysplasia, Miura Type	35
545	P	CLS054	Classic Ehlers-Danlos Syndrome	35
546		PST063	Postsynaptic Congenital Myasthenic Syndromes	35
547		DGT009	Digitotalar Dysmorphism	35
548		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	35
549	c	WLF009	Wolfram Syndrome 2	35
550		MCR103	Microtia	35
551	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
552		PLM151	Pulmonary Arteriovenous Fistulas	35
553		TRM011	Terminal Osseous Dysplasia	35
554		OGD001	Ogden Syndrome	35
555	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	35
556	P	OMD003	Omodysplasia	35
557	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	34
558	c	NNN020	Noonan Syndrome 7	34
559	P	MXD016	Mixed Gonadal Dysgenesis	34
560	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	34
561	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	34
562		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	34
563	c	OVR075	Ovarian Dysgenesis 1	34
564	c	ICH023	Ichthyosis, Acquired	34
565		GLS018	Glass Syndrome	34
566		INT276	Interatrial Communication	34
567	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	34
568	c	BRD047	Bardet-Biedl Syndrome 16	34
569	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	34
570		CHR377	Chromosome 10q26 Deletion Syndrome	34
571		CNS013	Constricting Bands, Congenital	34
572	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	33
573	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	33
574	c	ORT011	Orthostatic Hypotension 1	33
575	c	FNC052	Fanconi Anemia, Complementation Group T	33
576		NNT004	Neonatal Respiratory Failure	33
577	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	33
578	c	GLP003	Geleophysic Dysplasia 1	33
579	c	WRD010	Waardenburg Syndrome Type 4	33
580	c	KLF004	Kleefstra Syndrome 1	33
581		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	33
582		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	33
583	c	DMN021	Diamond-Blackfan Anemia 6	33
584	c	CNG379	Congenital Disorder of Glycosylation, Type It	33
585		OLV004	Oliver-Mcfarlane Syndrome	33
586	c	FNC047	Fanconi Anemia, Complementation Group Q	33
587	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
588	c	MTR051	Maternal Uniparental Disomy of Chromosome 1	32
589	c	CNG195	Congenital Disorder of Glycosylation, Type Id	32
590	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	32
591		BRC004	Brachydactyly-Syndactyly Syndrome	32
592		OSC001	Oeis Complex	32
593		ANG062	Angioosteohypertrophic Syndrome	32
594		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	32
595	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	32
596	c	BRT052	Bartter Syndrome, Type 1, Antenatal	32
597	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	32
598	c	SYN084	Synpolydactyly 1	32
599		DST008	Diastematomyelia	32
600		NGL001	Naegeli-Franceschetti-Jadassohn Syndrome	32
601		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	32
602		ISL062	Isolated Plagiocephaly	32
603	c	GLP004	Geleophysic Dysplasia 2	32
604	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	32
605	c	ORT012	Orthostatic Hypotension 2	32
606	c	WLL036	Weill-Marchesani Syndrome 1	32
607		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	32
608	P	RTS001	Ritscher-Schinzel Syndrome	31
609	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	31
610		NNT005	Neonatal Candidiasis	31
611	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	31
612	P	ACR106	Acrocephalopolysyndactyly Type Iii	31
613		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	31
614	P	BRC003	Brachyolmia	31
615	P	CRN249	Cornea Plana	31
616	c	CTR095	Cataract 8, Multiple Types	31
617	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	31
618		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	31
619		SPT016	Septopreoptic Holoprosencephaly	31
620		THR017	Thoracoabdominal Syndrome	31
621	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	31
622		CHR590	Chromosome 15q11-Q13 Duplication Syndrome	31
623		MCR099	Microlissencephaly	31
624		WRF003	Warfarin Syndrome	31
625	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	31
626	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	31
627	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	31
628	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	31
629	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
630	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	31
631	c	SCK011	Seckel Syndrome 5	30
632	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	30
633	c	CRN109	Cranioectodermal Dysplasia 2	30
634	c	BRD019	Bardet-Biedl Syndrome 7	30
635	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	30
636		ISL109	Isolated Cleft Lip	30
637	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
638	c	ACQ027	Acquired Cutis Laxa	30
639		ISL096	Isolated Klippel-Feil Syndrome	30
640	c	WLL037	Weill-Marchesani Syndrome 2	30
641		ALZ030	Alazami Syndrome	30
642		CRN264	Craniosynostosis with Fibular Aplasia	30
643		ALG027	Al-Gazali-Bakalinova Syndrome	30
644	c	ICH038	Ichthyosis, Congenital, Autosomal Recessive 3	30
645	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
646		MCR183	Microcephaly-Capillary Malformation Syndrome	30
647	c	SCK010	Seckel Syndrome 4	30
648		NRN022	Neurenteric Cyst	30
649	c	PRX060	Peroxisome Biogenesis Disorder 5a	30
650	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
651		TKN001	Takenouchi-Kosaki Syndrome	30
652	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	30
653		PRP093	Pierpont Syndrome	30
654	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	30
655		BRN133	Bronchomalacia	30
656	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	30
657	P	VNM004	Van Maldergem Syndrome	29
658	c	PRT059	Parietal Foramina 1	29
659	c	LSS010	Lissencephaly 4	29
660	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
661	c	STS007	Sotos Syndrome 2	29
662	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
663		UNV002	Univentricular Heart	29
664		MNT146	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	29
665	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
666	c	USH031	Usher Syndrome, Type Ij	29
667	c	RBN008	Rubinstein-Taybi Syndrome 2	29
668	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	29
669	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	29
670		VND005	Van Den Ende-Gupta Syndrome	29
671		PLM013	Pulmonary Immaturity	29
672		CBB002	Cobb Syndrome	29
673	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	29
674	P	ACR093	Acrofrontofacionasal Dysostosis	29
675		CRL006	Caroli Disease, Isolated	29
676	P	TRS029	Trisomy 1q	29
677	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
678		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	29
679	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	29
680		WTT002	Witteveen-Kolk Syndrome	29
681	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	29
682		MCR096	Macrocephaly/autism Syndrome	29
683	c	ICH040	Ichthyosis, Congenital, Autosomal Recessive 4a	29
684	c	PRX056	Peroxisome Biogenesis Disorder 11b	29
685	c	USH030	Usher Syndrome, Type Ik	29
686	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	28
687		PLY110	Polymicrogyria, Bilateral Temporooccipital	28
688		RHM015	Rhombencephalosynapsis	28
689	c	ERL012	Early-Onset Glaucoma	28
690	P	PRD037	Periodontal Ehlers-Danlos Syndrome	28
691		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	28
692		LRY022	Laryngoonychocutaneous Syndrome	28
693		TTR014	Tetrasomy 18p	28
694		UVL009	Uvula, Bifid	28
695	P	SCL047	Sclerocornea	28
696		HYP679	Hypoglossia-Hypodactylia	28
697		CLF028	Cleft Soft Palate	28
698		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	28
699		STL007	Steel Syndrome	28
700	c	LKD018	Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	28
701	c	ICH042	Ichthyosis, Congenital, Autosomal Recessive 6	28
702	c	ART104	Arthrogryposis, Distal, Type 5d	28
703	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	28
704	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	28
705		OCC011	Occipital Encephalocele	28
706		MLR023	Melorheostosis, Isolated	28
707	c	ANT084	Anterior Segment Dysgenesis 3	28
708	c	PRX048	Peroxisome Biogenesis Disorder 10a	28
709	c	PRX054	Peroxisome Biogenesis Disorder 12a	28
710		TTT001	Tatton-Brown-Rahman Syndrome	28
711	P	TRC031	Trichorhinophalangeal Syndrome	28
712	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
713		CHR399	Chromosome 4q21 Deletion Syndrome	28
714		TRC007	Tricuspid Valve Prolapse	27
715		HYP682	Hypertelorism, Teebi Type	27
716		SLF015	Self-Improving Collodion Baby	27
717		ATY022	Atypical Coarctation of Aorta	27
718	c	FRN033	Frontonasal Dysplasia 2	27
719	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	27
720		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	27
721		CRB147	Cerebellofaciodental Syndrome	27
722	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	27
723		INF021	Infant Gynecomastia	27
724	P	KNN002	Kenny-Caffey Syndrome	27
725	c	CLR091	Ciliary Dyskinesia, Primary, 14	27
726		MNS013	Monosomy 13q34	27
727	c	FML299	Familial Adenomatous Polyposis 3	27
728	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	27
729		ISL011	Isolated Aniridia	27
730		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	27
731	c	PRX051	Peroxisome Biogenesis Disorder 6a	27
732		TTR023	Tetraamelia-Multiple Malformations Syndrome	27
733	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	27
734	c	CRP022	Carpenter Syndrome 2	27
735		WLL012	Williams-Beuren Region Duplication Syndrome	27
736	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	27
737		ASS004	Aase-Smith Syndrome I	26
738	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	26
739		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	26
740		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	26
741	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	26
742	P	OVR076	Ovarian Dysgenesis 2	26
743	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
744		RGH006	Right Aortic Arch	26
745	c	USH044	Usher Syndrome, Type Iiib	26
746	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	26
747		DGT002	Digital Clubbing, Isolated Congenital	26
748		GBR007	Gabriele-De Vries Syndrome	26
749	P	ART034	Aortopulmonary Window	26
750	c	DMN017	Diamond-Blackfan Anemia 10	26
751	c	BRD021	Bardet-Biedl Syndrome 9	26
752	c	TRS012	Trisomy 22	26
753		XLN133	X-Linked Intellectual Disability, Shashi Type	26
754	c	OST137	Osteopetrosis, Autosomal Recessive 4	26
755		ISL089	Isolated Scaphocephaly	26
756	c	ICH050	Ichthyosis, Congenital, Autosomal Recessive 5	26
757		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	26
758	c	OST120	Osteopetrosis, Autosomal Recessive 5	26
759		MYM012	Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism	26
760	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
761		PNL023	Penile Agenesis	26
762	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
763	c	PRT060	Parietal Foramina 2	26
764	c	BRD050	Bardet-Biedl Syndrome 21	26
765	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
766	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	26
767	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
768	c	KBK003	Kabuki Syndrome 2	26
769	P	PRM227	Primary Orthostatic Hypotension	26
770	c	CRN110	Cranioectodermal Dysplasia 3	26
771	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	26
772	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
773	c	BSL030	Basal Encephalocele	25
774	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	25
775	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	25
776	c	PRX050	Peroxisome Biogenesis Disorder 9b	25
777	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
778		TTR027	Tetrasomy 15q26	25
779	c	LTC001	Late Congenital Syphilis	25
780	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	25
781		PRT131	Partial Trisomy Distal 4q	25
782	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	25
783	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	25
784	c	ADL057	Adult Teratoma	25
785	c	ACR103	Acrofrontofacionasal Dysostosis 1	25
786	c	ICH044	Ichthyosis, Congenital, Autosomal Recessive 8	25
787		TTR019	Tetrasomy 5p	25
788	c	PRX046	Peroxisome Biogenesis Disorder 7a	25
789	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
790	c	MCR212	Microphthalmia, Syndromic 12	25
791	c	PRX091	Peroxisome Biogenesis Disorder 8a	25
792	c	45X001	45,x/46,xy Mixed Gonadal Dysgenesis	25
793		XQ1001	Xq12-Q13.3 Duplication Syndrome	25
794	c	ART122	Arthrogryposis, Distal, Type 8	25
795		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	25
796		CYN002	Cyanosis, Transient Neonatal	25
797	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	25
798	c	DMN022	Diamond-Blackfan Anemia 9	25
799	c	CLR090	Ciliary Dyskinesia, Primary, 22	25
800	c	PRX057	Peroxisome Biogenesis Disorder 4a	25
801		CLF049	Cleft Lip and Alveolus	25
802		UTR054	Uterine Hypoplasia	25
803		ISL061	Isolated Brachycephaly	25
804	P	PLM064	Pulmonary Sequestration	25
805	c	PRX065	Peroxisome Biogenesis Disorder 3a	25
806		PRT043	Parietal Foramina with Cleidocranial Dysplasia	25
807	c	FRN032	Frontonasal Dysplasia 3	25
808		HYD048	Hydrocephalus with Stenosis of the Aqueduct of Sylvius	25
809		LMB069	Lamb-Shaffer Syndrome	25
810	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	25
811		SPN365	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	25
812		ISL087	Isolated Oxycephaly	25
813	c	ANT085	Anterior Segment Dysgenesis 5	25
814	c	PRX043	Peroxisome Biogenesis Disorder 6b	25
815	c	ANT083	Anterior Segment Dysgenesis 7	25
816		ATR088	Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects	25
817	c	PSD047	Pseudo-Turner Syndrome	25
818		RPD005	Rapidly Involuting Congenital Hemangioma	24
819		CHR379	Chromosome 15q26-Qter Deletion Syndrome	24
820	c	FNG009	Feingold Syndrome 2	24
821	c	FML339	Familial Adenomatous Polyposis 4	24
822	c	FRN037	Frontal Encephalocele	24
823		CHR366	Chromosome 5p13 Duplication Syndrome	24
824	c	EHL065	Ehlers-Danlos Syndrome, Type V	24
825		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	24
826	c	NML022	Nemaline Myopathy 10	24
827	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	24
828		SKR001	Skraban-Deardorff Syndrome	24
829		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	24
830	c	DMN040	Diamond-Blackfan Anemia 16	24
831		DPR014	Diprosopus	24
832	P	NNT006	Neonatal Myasthenia Gravis	24
833	c	CLR066	Ciliary Dyskinesia, Primary, 2	24
834	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	24
835	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	24
836		MTC181	Mitochondrial Dna-Related Progressive External Ophthalmoplegia	24
837	c	FML347	Familial Adenomatous Polyposis 2	24
838		PHK008	Phakomatosis Cesioflammea	24
839	c	WLL040	Weill-Marchesani Syndrome 4	24
840	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	24
841	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	24
842		PRT101	Poretti-Boltshauser Syndrome	24
843	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	24
844	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	24
845		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	24
846		CRS011	Criss-Cross Heart	24
847	P	SPN237	Spina Bifida Aperta	24
848	c	VNM002	Van Maldergem Syndrome 2	24
849	c	CRN111	Cranioectodermal Dysplasia 4	24
850		MCR310	Microgastria-Limb Reduction Defects Association	24
851	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	24
852	c	PRX052	Peroxisome Biogenesis Disorder 13a	24
853	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	24
854	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	24
855		CRN266	Craniofacial Dyssynostosis with Short Stature	24
856	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
857	P	ACR020	Acropectorovertebral Dysplasia	24
858	c	CLR114	Ciliary Dyskinesia, Primary, 30	24
859		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	24
860	c	WLL038	Weill-Marchesani Syndrome 3	24
861	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	24
862	c	HTR009	Heterotaxy, Visceral, 2, Autosomal	24
863	c	CNG514	Congenital Radioulnar Synostosis	24
864	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	24
865		MCR302	Macrostomia, Isolated	24
866	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	24
867		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	24
868	c	SCK029	Seckel Syndrome 7	24
869		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	24
870	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	24
871	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	24
872		ADD006	Adducted Thumbs Syndrome	24
873	c	ICH045	Ichthyosis, Congenital, Autosomal Recessive 7	24
874		FCL047	Facial Clefting, Oblique, 1	24
875	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	24
876		CHR616	Chromosome 19q13.11 Deletion Syndrome, Distal	24
877	c	MCR228	Microphthalmia, Syndromic 13	24
878	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	24
879	c	DMN019	Diamond-Blackfan Anemia 4	23
880	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	23
881		FNT003	Fountain Syndrome	23
882		DRL001	Dural Sinus Malformation	23
883	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	23
884	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	23
885	c	OST106	Osteopetrosis, Autosomal Recessive 8	23
886	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	23
887	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	23
888		PTL010	Patella Aplasia-Hypoplasia	23
889	c	WRD029	Waardenburg Syndrome, Type 2b	23
890	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	23
891	P	PTR018	Paternal Uniparental Disomy of Chromosome 6	23
892	c	DMN024	Diamond-Blackfan Anemia 7	23
893	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	23
894		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	23
895	P	ACR072	Acrorenal Syndrome	23
896	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	23
897	c	CTR116	Cataract 15, Multiple Types	23
898		GRW039	Growth Retardation, Developmental Delay, and Facial Dysmorphism	23
899	c	CLR094	Ciliary Dyskinesia, Primary, 28	23
900		MCR355	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy	23
901	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	23
902		LVC002	Levocardia	23
903	c	DMN018	Diamond-Blackfan Anemia 5	23
904		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	23
905	c	PRX058	Peroxisome Biogenesis Disorder 4b	23
906	c	PRX047	Peroxisome Biogenesis Disorder 5b	23
907	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	23
908		DYS134	Dysspondyloenchondromatosis	23
909	c	PRX062	Peroxisome Biogenesis Disorder 8b	23
910	c	BRD051	Bardet-Biedl Syndrome 20	23
911		PYR025	Pyruvate Dehydrogenase E2 Deficiency	23
912	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	23
913		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	23
914		MSC089	Mosaic Monosomy X	23
915	c	WRD022	Waardenburg Syndrome, Type 2d	23
916		CHR586	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb	23
917		SPS207	Spastic Paraplegia and Psychomotor Retardation with or Without Seizures	23
918	c	SHW007	Shwachman-Diamond Syndrome 2	23
919	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	23
920		HMH003	Hemihyperplasia-Multiple Lipomatosis Syndrome	22
921	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	22
922	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	22
923	c	ART131	Arthrogryposis, Distal, Type 4	22
924		DSN002	Desanto-Shinawi Syndrome	22
925	c	CLR102	Ciliary Dyskinesia, Primary, 17	22
926	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	22
927		BRN129	Branchial Cleft Anomalies	22
928	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	22
929	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	22
930		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	22
931	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	22
932		ULN023	Ulnar Hypoplasia	22
933	c	SCK037	Seckel Syndrome 9	22
934		XLN142	X-Linked Intellectual Disability, Stevenson Type	22
935	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	22
936	c	APR009	Aprosencephaly Syndrome	22
937	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	22
938	c	CLR105	Ciliary Dyskinesia, Primary, 20	22
939	c	LSS035	Lissencephaly 8	22
940	c	CLR106	Ciliary Dyskinesia, Primary, 26	22
941	c	LSS009	Lissencephaly 3	22
942		DST089	Distal Trisomy 3p	22
943	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	22
944	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	22
945	c	FNC061	Fanconi Anemia, Complementation Group W	22
946	c	CLR068	Ciliary Dyskinesia, Primary, 5	22
947		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	22
948	P	MNS011	Monosomy 9q22.3	22
949	c	SCK038	Seckel Syndrome 10	22
950	c	VNT028	Ventricular Septal Defect 1	22
951	c	CLR125	Ciliary Dyskinesia, Primary, 33	22
952	c	DMN029	Diamond-Blackfan Anemia 11	22
953		ACR101	Acrocraniofacial Dysostosis	22
954	c	CTR124	Cataract 10, Multiple Types	22
955	c	MCR217	Microphthalmia, Syndromic 11	22
956	c	HRN024	Horner Syndrome, Congenital	22
957	c	CLR095	Ciliary Dyskinesia, Primary, 19	22
958	c	CLR126	Ciliary Dyskinesia, Primary, 35	22
959	c	NLX003	Neu-Laxova Syndrome 2	22
960	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	22
961		CLF033	Cleft Mitral Valve	22
962	c	DMN006	Diamond-Blackfan Anemia 3	22
963	c	DMN005	Diamond-Blackfan Anemia 2	22
964	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	22
965	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	22
966	c	CLR104	Ciliary Dyskinesia, Primary, 15	22
967	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	22
968	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	22
969	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	22
970	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	22
971	c	HTR018	Heterotaxy, Visceral, 7, Autosomal	22
972		MSC081	Mosaic Trisomy 15	22
973		TRG019	Trigonocephaly with Short Stature and Developmental Delay	22
974	c	CLR054	Ciliary Dyskinesia, Primary, 12	22
975	P	ERL043	Early-Onset Nuclear Cataract	22
976	c	LSS030	Lissencephaly 7 with Cerebellar Hypoplasia	22
977	c	LTH030	Lethal Congenital Contracture Syndrome 8	22
978		ERY043	Euryblepharon	22
979		RFM002	Roifman-Chitayat Syndrome	22
980	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	22
981		CHR393	Chromosome 19p13.13 Deletion Syndrome	22
982	c	CLR042	Ciliary Dyskinesia, Primary, 6	21
983	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	21
984	c	MNS008	Monosomy 21	21
985		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	21
986	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	21
987		CHR620	Chromosome 16p11.2 Deletion Syndrome, 220-Kb	21
988	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	21
989	c	SCN048	Secondary Syringomyelia	21
990		CHN019	Chand Syndrome	21
991	c	PRX066	Peroxisome Biogenesis Disorder 3b	21
992	c	CRD167	Cardiofaciocutaneous Syndrome 4	21
993	c	ERL002	Early Congenital Syphilis	21
994	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	21
995		CNG009	Congenital Aortic Valve Stenosis	21
996	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	21
997	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	21
998		MSL005	Mseleni Joint Disease	21
999	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	21
1000		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	21
1001	c	CRD164	Cardiofaciocutaneous Syndrome 3	21
1002		CHR502	Chromosome 17q12 Duplication Syndrome	21
1003		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	21
1004		DVL018	Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair	21
1005	c	DMN020	Diamond-Blackfan Anemia 8	21
1006		MCR321	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation	21
1007	c	CLR117	Ciliary Dyskinesia, Primary, 32	21
1008	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	21
1009	c	ICH048	Ichthyosis, Congenital, Autosomal Recessive 9	21
1010		CLV012	Clavicle, Pseudarthrosis of, Congenital	21
1011	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	21
1012	c	LTH032	Lethal Congenital Contracture Syndrome 7	21
1013		OCL070	Oculopalatocerebral Syndrome	21
1014		CHR369	Chromosome Xq28 Duplication Syndrome	21
1015	c	CTR105	Cataract 12, Multiple Types	21
1016	c	CLR101	Ciliary Dyskinesia, Primary, 25	21
1017	c	SCK033	Seckel Syndrome 8	21
1018	c	OVR107	Ovarian Dysgenesis 4	21
1019	c	CLR136	Ciliary Dyskinesia, Primary, 9	21
1020		VCT008	Vacterl with Hydrocephalus	21
1021		CRT069	Cortical Malformations, Occipital	21
1022	c	ICH039	Ichthyosis, Congenital, Autosomal Recessive 10	21
1023	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	21
1024		RDL022	Radial Hemimelia	21
1025		CMP069	Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome	21
1026		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	21
1027	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	21
1028		CRN200	Craniosynostosis and Dental Anomalies	21
1029		CHR610	Chromosome 10q22.3-Q23.2 Deletion Syndrome	21
1030	c	CLR092	Ciliary Dyskinesia, Primary, 18	21
1031	c	SYN088	Synpolydactyly 2	21
1032		CHR483	Chromosome 3q13.31 Deletion Syndrome	21
1033	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	21
1034	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	21
1035	c	CLR116	Ciliary Dyskinesia, Primary, 29	21
1036	c	CLR098	Ciliary Dyskinesia, Primary, 27	21
1037	c	JVN034	Juvenile Polyposis of Infancy	21
1038		HRR005	Harrod Syndrome	21
1039		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	21
1040	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	21
1041	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	21
1042	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	21
1043	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	21
1044	c	RTS002	Ritscher-Schinzel Syndrome 2	21
1045		PLV015	Pelvis-Shoulder Dysplasia	20
1046	c	HYD040	Hydrolethalus Syndrome 2	20
1047		CRV063	Cervical Spina Bifida Aperta	20
1048	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	20
1049		DST081	Distal Trisomy 11q	20
1050		ISL084	Isolated Trigonocephaly	20
1051	c	CLR099	Ciliary Dyskinesia, Primary, 16	20
1052	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	20
1053	c	CRD163	Cardiofaciocutaneous Syndrome 2	20
1054	c	CTR182	Cataract 23, Multiple Types	20
1055	c	STC012	Stickler Syndrome, Type Iv	20
1056	c	CLR135	Ciliary Dyskinesia, Primary, 7	20
1057		MYP038	Myopathy, Congenital, Compton-North	20
1058	c	BRC053	Brachyolmia Type 2	20
1059	c	EHL090	Ehlers-Danlos Syndrome Type 7b	20
1060	c	ICH072	Ichthyosis, Congenital, Autosomal Recessive 14	20
1061		GRM003	German Syndrome	20
1062		ORB019	Orbital Margin, Hypoplasia of	20
1063	c	CLR088	Ciliary Dyskinesia, Primary, 21	20
1064	c	OST171	Osteopetrosis, Autosomal Dominant 3	20
1065	c	DMN028	Diamond-Blackfan Anemia 12	20
1066		2Q3005	2q31.1 Microdeletion Syndrome	20
1067		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	20
1068	c	CLR059	Ciliary Dyskinesia, Primary, 13	20
1069		ACK001	Ackerman Syndrome	20
1070	P	RCR026	Recurrent Hydatidiform Mole	20
1071	c	PTS010	Ptosis, Hereditary Congenital 2	20
1072		MCR311	Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome	20
1073		XQ2003	Xq25 Duplication Syndrome	20
1074	P	PRX064	Peroxisome Biogenesis Disorder 2b	20
1075	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	20
1076		TRC110	Tracheobronchial Stenosis, Congenital	20
1077		NTH002	Nathalie Syndrome	20
1078		ATR055	Atrial Septal Aneurysm	20
1079	c	VNT024	Ventricular Septal Defect 3	20
1080		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	20
1081	c	CLR097	Ciliary Dyskinesia, Primary, 23	20
1082		DST083	Distal Trisomy 9q	20
1083		CNT104	Contractures, Congenital, Torticollis, and Malignant Hyperthermia	20
1084	c	GLC054	Glaucoma 3, Primary Congenital, D	20
1085	c	CTR176	Cataract, Age-Related Nuclear	20
1086	c	CTR136	Cataract 41	20
1087		6QT002	6q Terminal Deletion Syndrome	20
1088	c	CLR056	Ciliary Dyskinesia, Primary, 10	20
1089		CRV062	Cervical Spina Bifida Cystica	20
1090		LMB056	Lumbosacral Spina Bifida Cystica	20
1091	c	PRX089	Peroxisome Biogenesis Disorder 10b	20
1092		MNS012	Monostotic Fibrous Dysplasia	20
1093	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	20
1094		OCL057	Oculotrichodysplasia	20
1095		DST059	Distal Trisomy 17q	19
1096		DST037	Distal Monosomy 9p	19
1097	c	STC011	Stickler Syndrome, Type V	19
1098		HMR042	Humero-Ulnar Synostosis	19
1099	c	CLR107	Ciliary Dyskinesia, Primary, 24	19
1100	c	PRX068	Peroxisome Biogenesis Disorder 7b	19
1101	c	HTR023	Heterotaxy, Visceral, 6, Autosomal	19
1102	c	GLP007	Geleophysic Dysplasia 3	19
1103	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	19
1104		VGN031	Vaginal Atresia	19
1105		EHL064	Ehlers-Danlos Syndrome, Arthrochalasis Type	19
1106	c	HYD042	Hydrocephalus, Autosomal Dominant	19
1107		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	19
1108	c	FCL056	Facial Paresis, Hereditary Congenital, 3	19
1109		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	19
1110		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	19
1111		ABS020	Absent Eyebrows and Eyelashes with Mental Retardation	19
1112	c	ART060	Arthrogryposis, Distal, Type 1b	19
1113	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	19
1114		DST045	Distal Trisomy 6p	19
1115	c	DMN039	Diamond-Blackfan Anemia 17	19
1116		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	19
1117	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	19
1118	c	OVR102	Ovarian Dysgenesis 3	19
1119	c	CLR053	Ciliary Dyskinesia, Primary, 11	19
1120		FCD002	Faciodigitogenital Syndrome, Autosomal Recessive	19
1121		CTN032	Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia	19
1122		CHR612	Chromosome 15q14 Deletion Syndrome	19
1123		CMB063	Combined Oxidative Phosphorylation Deficiency 25	19
1124		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	19
1125	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	19
1126		THY105	Thyrocerebroretinal Syndrome	19
1127		CHR362	Chromosome 17q21.31 Duplication Syndrome	19
1128		CRV064	Cervicothoracic Spina Bifida Aperta	19
1129		UPP007	Upper Thoracic Spina Bifida Cystica	19
1130	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	19
1131		CRV061	Cervicothoracic Spina Bifida Cystica	19
1132		UPP008	Upper Thoracic Spina Bifida Aperta	19
1133	c	TTL009	Total Spina Bifida Aperta	19
1134		THR084	Thoracolumbosacral Spina Bifida Cystica	19
1135		THR085	Thoracolumbosacral Spina Bifida Aperta	19
1136		TTL008	Total Spina Bifida Cystica	19
1137		LMB057	Lumbosacral Spina Bifida Aperta	19
1138		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	19
1139		SPR065	Supernumerary Nostril	19
1140		MSM018	Mesomelic Limb Shortening and Bowing	19
1141		CHR621	Chromosome 16p11.2 Deletion Syndrome, 593-Kb	19
1142		MCR307	Microspherophakia-Metaphyseal Dysplasia	19
1143	c	HTR020	Heterotaxy, Visceral, 8, Autosomal	19
1144		FCL064	Facial Dysmorphism with Multiple Malformations	19
1145	c	CLR134	Ciliary Dyskinesia, Primary, 3	19
1146		DST071	Distal Monosomy 19p13.3	19
1147	c	USH043	Usher Syndrome, Type Ih	19
1148	c	ACQ050	Acquired Schizencephaly	19
1149		TTR018	Tetragametic Chimerism	19
1150	c	ISC013	Isochromosomy Yq	19
1151		PRP101	Peripheral Pulmonary Stenosis	18
1152	c	ACR108	Acrocephalopolysyndactyly Type Iv	18
1153		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	18
1154		DST044	Distal Trisomy 14q	18
1155		PHK010	Phakomatosis Spilorosea	18
1156		CRN224	Craniofaciofrontodigital Syndrome	18
1157		CNG284	Congenital Pseudoarthrosis of the Tibia	18
1158		CLF047	Cleft-Limb-Heart Malformation Syndrome	18
1159	c	SCK032	Seckel Syndrome 6	18
1160		PLY088	Polyvalvular Heart Disease Syndrome	18
1161	c	STS009	Sotos Syndrome 3	18
1162		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	18
1163	c	DNR004	Duane Retraction Syndrome 2	18
1164	c	DMN030	Diamond-Blackfan Anemia 13	18
1165		CHR584	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb	18
1166		PCT002	Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails	18
1167		HYP524	Hypoinsulinemic Hypoglycemia with Hemihypertrophy	18
1168	c	ANT087	Anterior Segment Dysgenesis 6	18
1169	c	ANT067	Anterior Segment Dysgenesis 8	18
1170	c	ICH070	Ichthyosis, Congenital, Autosomal Recessive 13	18
1171	c	FCL030	Facial Paresis, Hereditary Congenital, 1	18
1172		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	18
1173		3P2001	3p25.3 Microdeletion Syndrome	18
1174		TRC114	Trichodental Dysplasia	18
1175	c	CLR124	Ciliary Dyskinesia, Primary, 34	18
1176	c	MTR063	Maternal Uniparental Disomy of Chromosome 2	18
1177	c	WRD026	Waardenburg Syndrome, Type 2c	18
1178		MCR317	Macrophthalmia, Colobomatous, with Microcornea	18
1179		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	18
1180		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	18
1181		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	18
1182	P	MTR062	Maternal Uniparental Disomy of Chromosome 4	18
1183	c	OMP009	Omphalocele, Autosomal	18
1184	c	EPL232	Epileptic Encephalopathy, Early Infantile, 68	18
1185		CMP039	Camptodactyly 1	18
1186	P	RNG031	Ring Chromosome Y Syndrome	18
1187	c	HYD041	Hydatidiform Mole, Recurrent, 2	18
1188	c	CRN280	Cornea Plana 2, Autosomal Recessive	18
1189	c	CLR123	Ciliary Dyskinesia, Primary, 37	18
1190	c	VNB004	Van Buchem Disease, Type 2	18
1191	c	OVR115	Ovarian Dysgenesis 5	18
1192	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	18
1193	c	TRN062	Transient Neonatal Myasthenia Gravis	18
1194		DST036	Distal Trisomy 15q	18
1195		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	18
1196		6Q1001	6q16 Deletion Syndrome	18
1197	c	USH045	Usher Syndrome, Type Iv	18
1198		ILL003	Illum Syndrome	18
1199		FMR013	Femoral Agenesis/hypoplasia	18
1200	c	FCL050	Facial Paresis, Hereditary Congenital, 2	18
1201		ECT085	Ectopia Cordis	18
1202		CHR614	Chromosome 16p13.2 Deletion Syndrome	18
1203		16P003	16p13.11 Microdeletion Syndrome	18
1204		MMM002	Mammary-Digital-Nail Syndrome	18
1205		7P2001	7p22.1 Microduplication Syndrome	17
1206	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	17
1207		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	17
1208	c	KLF005	Kleefstra Syndrome 2	17
1209		CNG347	Congenital Tricuspid Stenosis	17
1210		8P1001	8p11.2 Deletion Syndrome	17
1211		EPB002	Epiblepharon	17
1212		MSC086	Mesocardia	17
1213	c	SX2003	Six2-Related Frontonasal Dysplasia	17
1214		NSL020	Nasal Glial Heterotopia	17
1215		11Q001	11q22.2q22.3 Microdeletion Syndrome	17
1216	c	EPL233	Epileptic Encephalopathy, Early Infantile, 69	17
1217		ECT069	Ectodermal Dysplasia 8, Hair/tooth/nail Type	17
1218		CHR567	Chromosome 5q12 Deletion Syndrome	17
1219	c	VNT026	Ventricular Septal Defect 2	17
1220		MYL044	Myelocystocele	17
1221		FRY007	Fryns Macrocephaly	17
1222	c	CLR138	Ciliary Dyskinesia, Primary, 38	17
1223		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	17
1224	P	HRD043	Hereditary Congenital Facial Paresis	17
1225		DYS135	Dysphagia Lusoria	17
1226	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	17
1227		SMM003	Summitt Syndrome	17
1228		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	17
1229		EXT058	Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly	17
1230	c	GLC089	Glaucoma 3, Primary Congenital, E	17
1231		6P2001	6p22 Microdeletion Syndrome	17
1232	c	MTR067	Maternal Uniparental Disomy of Chromosome 16	17
1233	c	MTR061	Maternal Uniparental Disomy of Chromosome 6	17
1234	c	OVR119	Ovarian Dysgenesis 7	17
1235	c	CRN306	Corneal Dystrophy, Posterior Polymorphous, 4	17
1236		14Q001	14q12 Microdeletion Syndrome	17
1237	c	SPN121	Spondylocostal Dysostosis 1	17
1238		SBR012	Subaortic Stenosis, Membranous	17
1239		CNG489	Congenital Herpes Simplex Virus Infection	17
1240	c	PST093	Posterior Hypospadias	17
1241		SPS196	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	17
1242		THM019	Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay	17
1243	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	17
1244		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	17
1245	c	CLR067	Ciliary Dyskinesia, Primary, 4	17
1246		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	17
1247		DST055	Distal 22q11.2 Microduplication Syndrome	17
1248		BLT023	Bilateral Acute Depigmentation of the Iris	17
1249	c	PRD028	Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15	17
1250	c	ICH071	Ichthyosis, Congenital, Autosomal Recessive 12	17
1251		HYP638	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	17
1252		RDL028	Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema	17
1253		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	16
1254		JNT004	Joint Laxity, Short Stature, and Myopia	16
1255		CNG491	Congenital Portosystemic Shunt	16
1256		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
1257		MSC090	Mosaic Trisomy 3	16
1258		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	16
1259	c	CLR069	Ciliary Dyskinesia, Primary, 8	16
1260	c	OVR120	Ovarian Dysgenesis 8	16
1261		DBL010	Double-Orifice Mitral Valve	16
1262		KMM002	Kommerell Diverticulum	16
1263	c	EPL234	Epileptic Encephalopathy, Early Infantile, 70	16
1264	c	PRT113	Parietal Foramina 3	16
1265		ESS005	Essential Iris Atrophy	16
1266		CRY030	Cryptophthalmos, Unilateral or Bilateral, Isolated	16
1267		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	16
1268		CLF034	Cleft Hard Palate	16
1269		NSL017	Nasolacrimal Duct Cyst	16
1270	c	CLR139	Ciliary Dyskinesia, Primary, 39	16
1271		XP2002	Xp22.13p22.2 Duplication Syndrome	16
1272	c	ART054	Arthrogryposis, Distal, Type 2e	16
1273		BRC096	Brachydactyly-Distal Symphalangism Syndrome	16
1274		TTR016	Tetra-Amelia Syndrome	16
1275		DPH023	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull	16
1276		CNG506	Congenital Amyoplasia	16
1277		THM021	Thumb Deformity and Alopecia	16
1278		CRB144	Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	16
1279	c	CRN279	Cornea Plana 1, Autosomal Dominant	16
1280		DDL001	Didelphys Uterus	16
1281		XLN232	X-Linked Alport Syndrome-Diffuse Leiomyomatosis	16
1282	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	16
1283		RGH010	Right Ventricular Hypoplasia, Isolated	16
1284	c	PTS018	Ptosis, Hereditary Congenital 1	16
1285		CNG519	Congenital Gerbode Defect	16
1286		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	16
1287		20Q001	20q13.33 Microdeletion Syndrome	16
1288	c	STC007	Stickler Syndrome, Type 3	16
1289	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	16
1290		DRM038	Dermotrichic Syndrome	16
1291		ODN021	Odontotrichoungual-Digital-Palmar Syndrome	16
1292		CNG330	Congenital Megacalycosis	16
1293	c	PTR011	Paternal Uniparental Disomy of Chromosome 1	16
1294		DST035	Distal Trisomy 18q	16
1295	c	LTB003	Ltbp4-Related Cutis Laxa	16
1296		CRN197	Coronary Arterial Fistulas	16
1297		PHK006	Phakomatosis Pigmentokeratotica	16
1298		1P2001	1p21.3 Microdeletion Syndrome	16
1299		CLR127	Ciliary Dyskinesia, Primary, 36, X-Linked	16
1300	c	DMN045	Diamond-Blackfan Anemia-Like	16
1301	P	ZYG003	Zygodactyly 1	16
1302	c	CLR140	Ciliary Dyskinesia, Primary, 40	16
1303		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	16
1304		TYS007	Tyshchenko Syndrome	16
1305		RDL031	Radial Aplasia, X-Linked	16
1306		HYD051	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis	16
1307		PRR030	Pierre Robin Sequence with Facial and Digital Anomalies	16
1308		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	16
1309		XLN145	X-Linked Intellectual Disability, Pai Type	16
1310		AML053	Amelia, Autosomal Recessive	16
1311	c	INT005	Intermediate Malignant Teratoma	16
1312		RTF001	Retiform Hemangioendothelioma	16
1313	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	15
1314		NND003	Non-Distal Trisomy 10q	15
1315		MLC004	Mulchandani-Bhoj-Conlin Syndrome	15
1316	c	OVR118	Ovarian Dysgenesis 6	15
1317		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	15
1318		SBM006	Submucosal Cleft Palate	15
1319		HNT017	Hunter-Mcalpine Craniosynostosis Syndrome	15
1320	c	CNT108	Central Polydactyly	15
1321		DLT013	Deletion 5q35	15
1322	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	15
1323	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	15
1324		CRN192	Craniorhiny	15
1325	c	PTN012	Patent Ductus Arteriosus 3	15
1326		DSP003	Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	15
1327		HYP727	Hypoglossia with Situs Inversus	15
1328		CRN307	Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	15
1329	P	LRY049	Laryngotracheoesophageal Cleft Type 4	15
1330		CNS012	Cono-Spondylar Dysplasia	15
1331		VCL007	Vocal Cord Paralysis and Ptosis	15
1332		10Q002	10q22.3q23.3 Microduplication Syndrome	15
1333	c	OCY002	Oocyte Maturation Defect 2	15
1334		ISL120	Isolated Cerebellar Agenesis	15
1335	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	15
1336		WHB001	Wahab Syndrome	15
1337		HMN034	Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe	15
1338	c	MTR057	Maternal Uniparental Disomy of Chromosome X	15
1339		DST079	Distal Trisomy 5q	15
1340		DST082	Distal Trisomy 10q	15
1341		CHN047	Chondroectodermal Dysplasia with Night Blindness	15
1342		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	15
1343		DST038	Distal Monosomy 7q36	15
1344	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	15
1345		49X004	49,xyyyy Syndrome	15
1346	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	15
1347		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	15
1348		ATX036	Ataxia-Photosensitivity-Short Stature Syndrome	15
1349		PRS111	Persistent Fifth Aortic Arch	15
1350		XSM001	X Small Rings	15
1351		CYS047	Cystic Fibrosis, Modifier of, 1	15
1352		PLM116	Pulmonary Artery Hypoplasia	15
1353		HYP497	Hyperphalangy	15
1354		SYM015	Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers	15
1355		UNL006	Unilateral Focal Polymicrogyria	15
1356	c	PTN013	Patent Ductus Arteriosus 2	15
1357		HLL014	Hallux Varus and Preaxial Polysyndactyly	15
1358	c	TYP003	Type I Ehlers-Danlos Syndrome	15
1359	P	XKP001	Xk Aprosencephaly	15
1360		20Q003	20q11.2 Microdeletion Syndrome	15
1361		PTN009	Patent Urachus	15
1362		MSC078	Mosaic Trisomy 17	15
1363		CRV066	Cervical Aortic Arch	15
1364		CRT080	Cortical Blindness, Retardation, and Postaxial Polydactyly	15
1365		NND005	Non-Distal Trisomy 13q	15
1366		ESP040	Esophageal Duplication Cyst	15
1367		KLL013	Kallmann Syndrome-Heart Disease Syndrome	15
1368		UNL005	Unilateral Polymicrogyria	15
1369		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	15
1370		ANR045	Aneurysm of Interventricular Septum	14
1371		TRN046	Transverse Vaginal Septum	14
1372		CNG243	Congenital Subglottic Stenosis	14
1373		5Q3001	5q35 Microduplication Syndrome	14
1374		TRN017	Transient Neonatal Neutropenia	14
1375	c	MTR060	Maternal Uniparental Disomy of Chromosome 9	14
1376		ARC020	Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	14
1377		LRS009	Larsen-Like Syndrome, Lethal Type	14
1378		CMP077	Composite Hemangioendothelioma	14
1379		ATR053	Atresia of Urethra	14
1380		PLM119	Pulmonary Artery Coming from Patent Ductus Arteriosus	14
1381		HRS038	Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features	14
1382	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	14
1383		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	14
1384		ANR041	Aniridia-Intellectual Disability Syndrome	14
1385		ISC019	Ischiovertebral Syndrome	14
1386		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	14
1387		MCR186	Microtriplication 11q24.1	14
1388	c	OCY005	Oocyte Maturation Defect 4	14
1389	c	EFM001	Efemp2-Related Cutis Laxa	14
1390		ACC011	Accessory Mitral Valve Tissue	14
1391	c	ACQ026	Acquired Pseudoxanthoma Elasticum	14
1392		ACR078	Acral Self-Healing Collodion Baby	14
1393	c	DMN047	Diamond-Blackfan Anemia 18	14
1394		ART091	Aorto-Ventricular Tunnel	14
1395		ATS292	Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	14
1396		TRP023	Triphalangeal Thumbs and Dislocation of Patella	14
1397	P	CNG326	Congenital Primary Megaureter	14
1398	c	HTR012	Heterotaxy, Visceral, 3, Autosomal	14
1399	c	SYN040	Synpolydactyly 3	14
1400	P	OTP002	Otopalatodigital Spectrum Disorders	14
1401	c	CNG343	Congenital Coronary Artery Aneurysm	14
1402		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	14
1403	P	JVN036	Juvenile Sialidosis Type 2	14
1404		NND004	Non-Distal Monosomy 10q	14
1405		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	14
1406		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	14
1407		ISL118	Isolated Tracheoesophageal Fistula	14
1408		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	14
1409		FRS011	First Branchial Cleft Anomaly	14
1410		CMP070	Complete Atrioventricular Canal-Left Heart Obstruction Syndrome	14
1411		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	14
1412		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1413		MSC080	Mosaic Trisomy 12	14
1414		CNG235	Congenital Microgastria	14
1415		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	14
1416	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	14
1417		APR008	Aprosencephaly and Cerebellar Dysgenesis	14
1418		VRR008	Verrucous Hemangioma	14
1419	c	GLC052	Glaucoma 3, Primary Congenital, C	14
1420		CMP079	Complete Septate Uterus	13
1421	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	13
1422		RCT033	Rectal Duplication	13
1423	c	ATS413	Autosomal Recessive Anterior Segment Dysgenesis	13
1424		CLF040	Cleft Lip-Retinopathy Syndrome	13
1425	P	BLT016	Bilateral Polymicrogyria	13
1426	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	13
1427		DST052	Distal 7q11.23 Microduplication Syndrome	13
1428		ANN015	Anonychia with Flexural Pigmentation	13
1429	c	ACQ029	Acquired Porencephaly	13
1430		TRN045	True Unicornuate Uterus	13
1431	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	13
1432	c	PRD023	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2	13
1433		FNG014	Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature	13
1434	c	MTR064	Maternal Uniparental Disomy of Chromosome 22	13
1435		16P005	16p11.2p12.2 Microduplication Syndrome	13
1436	c	OCY004	Oocyte Maturation Defect 3	13
1437		MSC088	Mosaic Trisomy 5	13
1438		CNG537	Congenital Anomaly of the Tricuspid Valve Chordae	13
1439		LNG081	Longitudinal Vaginal Septum	13
1440	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	13
1441		ART095	Aortic Valve Atresia	13
1442		LWR017	Lower Limb Malformation-Hypospadias Syndrome	13
1443		MDL016	Midline Cervical Cleft	13
1444		46X015	46,xy Ovotesticular Disorder of Sex Development	13
1445	c	PRG096	Pregnancy Loss, Recurrent 2	13
1446		ISL133	Isolated Epispadias	13
1447	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	13
1448		CMP084	Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome	13
1449	c	SCL053	Sclerocornea, Autosomal Dominant	13
1450	c	PRG093	Pregnancy Loss, Recurrent 3	13
1451	c	PTR022	Paternal Uniparental Disomy of Chromosome 7	13
1452		XLN156	X-Linked Intellectual Disability, Golabi-Ito-Hall Type	13
1453		ANR037	Aneurysm or Dilatation of Ascending Aorta	13
1454		CRN204	Craniofacial Conodysplasia	13
1455		INT294	Intellectual Disability-Short Stature-Hypertelorism Syndrome	13
1456		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	13
1457		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	13
1458		ACH028	Acheiria	13
1459		CNG252	Congenital Non-Communicating Hydrocephalus	13
1460	c	ACR046	Acropectorovertebral Dysplasia F Form	13
1461		CHR498	Chromosome 16p11.2 Duplication Syndrome	13
1462		HND012	Handigodu Joint Disease	13
1463		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	13
1464		CNG335	Congenital Ectropion Uveae	13
1465		EXT062	Extracranial Carotid Artery Aneurysm	12
1466		MND008	Mandibular Arteriovenous Malformation	12
1467		ERL036	Early-Onset Posterior Subcapsular Cataract	12
1468		46X040	46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome	12
1469		ETH013	Euthyroid Graves Orbitopathy	12
1470		ART097	Aorto-Left Ventricular Tunnel	12
1471		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	12
1472		ECT057	Ectasia of the Right Atrial Appendage	12
1473		SVR082	Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	12
1474		PRT087	Parietal Encephalocele	12
1475	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	12
1476	c	DMN049	Diamond-Blackfan Anemia 20	12
1477	c	OCY006	Oocyte Maturation Defect 5	12
1478		SYM014	Symbrachydactyly of Hands and Feet	12
1479		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	12
1480		PRC041	Pericardial and Diaphragmatic Defect	12
1481	P	ANT062	Anterior Urethral Valve	12
1482	c	CSK002	Cask-Related Intellectual Disability	12
1483	c	TRS033	Trisomy 18-Like Syndrome	12
1484		MTR084	Maternal Hyperthermia-Induced Birth Defects	12
1485		CRN194	Cranial Meningocele	12
1486	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	12
1487	c	PTR019	Paternal Uniparental Disomy of Chromosome 5	12
1488		URC013	Urachal Diverticulum	12
1489		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	12
1490	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	12
1491		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	12
1492		5Q3002	5q31.3 Microdeletion Syndrome	12
1493		MCR357	Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	12
1494		LWN002	Low Anorectal Malformation	12
1495		ISL108	Isolated Splenogonadal Fusion	12
1496		13Q001	13q12.3 Microdeletion Syndrome	12
1497		PRM238	Primary Intralymphatic Angioendothelioma	12
1498		SVR086	Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	12
1499		PRP103	Peripapillary Staphyloma	12
1500		PRT138	Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	12
1501	c	HYP545	Hypospadias 3, Autosomal	12
1502	c	PTR015	Paternal Uniparental Disomy of Chromosome X	12
1503		PSD091	Pseudounicornuate Uterus	12
1504		ISL128	Isolated Microspherophakia	12
1505		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	12
1506		NND008	Non-Distal Monosomy 7p	11
1507		ISL054	Isolated Congenitally Uncorrected Transposition of the Great Arteries	11
1508		CNT077	Central Bilateral Macrogyria	11
1509	c	SYN050	Syndactyly Type 6	11
1510		HGH026	High Anorectal Malformation	11
1511		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	11
1512	P	SYN073	Syngap1-Related Intellectual Disability	11
1513		ABS016	Absence of the Pulmonary Artery	11
1514	c	PRD025	Prader-Willi Syndrome Due to Imprinting Mutation	11
1515		JXT004	Juxtaposition of the Atrial Appendages	11
1516	c	CNG253	Congenital Communicating Hydrocephalus	11
1517	c	PRM168	Primary Syringomyelia	11
1518		LBR027	Laubry-Pezzi Syndrome	11
1519		SHN001	Shone Complex	11
1520	c	LRY051	Laryngotracheoesophageal Cleft Type 1	11
1521		MSC084	Mosaic Genome-Wide Paternal Uniparental Disomy	11
1522	c	HLL012	Hallermann-Streiff-Like Syndrome	11
1523		DNT049	Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	11
1524		NSL021	Nasal Encephalocele	11
1525	c	CNG455	Congenital Aortopulmonary Window	11
1526		ART098	Aorto-Right Ventricular Tunnel	11
1527		CNG357	Congenital Symblepharon	11
1528	c	ANG059	Angelman Syndrome Due to Imprinting Defect in 15q11-Q13	11
1529		FRT004	Fourth Branchial Cleft Anomaly	11
1530		MYP110	Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome	11
1531		PLR014	Pleuro-Pericardial Cyst	11
1532	c	ATS065	Autosomal Dominant Coarctation of Aorta	11
1533		ART130	Arthrogryposis with Hyperkeratosis	10
1534	c	CNG257	Congenital Pulmonary Sequestration	10
1535		FBL017	Fibular Dimelia-Diplopodia Syndrome	10
1536		CRV060	Cervical Dermoid Cyst	10
1537		XLN207	X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome	10
1538		SNS024	Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	10
1539		URC012	Urachal Sinus	10
1540	c	SPN122	Spondylocostal Dysostosis 2	10
1541		9Q2003	9q21.13 Microdeletion Syndrome	10
1542		9Q3002	9q33.3q34.11 Microdeletion Syndrome	10
1543		GLS016	Glossopalatine Ankylosis	10
1544		CNG244	Congenital Laryngeal Cyst	10
1545	c	USH011	Usher Syndrome, Type 2b	10
1546		IDP062	Idiopathic Syringomyelia	10
1547		CNG318	Congenital Genu Recurvatum	10
1548		2P2002	2p21 Microdeletion Syndrome Without Cystinuria	10
1549	c	SPN124	Spondylocostal Dysostosis 4	10
1550		LWR014	Lower Limb Hypertrophy	10
1551	c	SPN123	Spondylocostal Dysostosis 3	10
1552		MGC005	Megacystis-Megaureter Syndrome	10
1553	c	CNG346	Congenital Aortic Valve Insufficiency	10
1554		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
1555		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
1556	c	ZYG007	Zygodactyly Type 3	9
1557		CRN207	Coronary Sinus Stenosis	9
1558		PRS112	Persistent Eustachian Valve	9
1559	c	CNG433	Congenital Cornea Plana	9
1560		PLM178	Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome	9
1561		ULN014	Ulnar Hemimelia	9
1562		CNG277	Congenital Pseudoarthrosis of the Fibula	9
1563	c	DMN048	Diamond-Blackfan Anemia 19	9
1564	c	ANG053	Angelman Syndrome Due to Maternal 15q11q13 Deletion	9
1565	c	HVP001	Hivep2-Related Intellectual Disability	9
1566		TRC108	Trichodysplasia-Amelogenesis Imperfecta Syndrome	9
1567	c	KRN003	Kernicterus Due to Isoimmunization	9
1568	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	9
1569		ISL050	Isolated Dandy-Walker Malformation with Hydrocephalus	9
1570		ISL049	Isolated Dandy-Walker Malformation Without Hydrocephalus	9
1571		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
1572		CNG279	Congenital Pseudoarthrosis of the Ulna	9
1573		MSC087	Mosaic Trisomy 4	9
1574	c	CLC009	Clcn7-Related Osteopetrosis	9
1575	c	DXT005	Dextro-Looped Transposition of the Great Arteries 3	9
1576		CNG282	Congenital Knee Dislocation	9
1577		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	9
1578	c	ZYG006	Zygodactyly Type 2	9
1579	c	MCR185	Macrodactyly of Toes	9
1580		DBL018	Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis	9
1581		DST090	Distal Trisomy 2p	9
1582		3Q2004	3q26 Microduplication Syndrome	9
1583		THR083	Third Branchial Cleft Anomaly	9
1584		DST074	Distal Trisomy 20q	9
1585	c	FBL003	Fbln5-Related Cutis Laxa	8
1586	c	ANG052	Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15	8
1587		CLF055	Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome	8
1588		CRN208	Coronary Sinus Atresia	8
1589		MXL013	Maxillary Arteriovenous Malformation	8
1590		CMP057	Complete Cryptophthalmia	8
1591		INV017	Inverse Marcus-Gunn Phenomenon	8
1592	c	OCY007	Oocyte Maturation Defect 6	8
1593	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
1594		CNG278	Congenital Pseudoarthrosis of the Radius	8
1595		CNG283	Congenital Pseudoarthrosis of the Femur	8
1596		9P1001	9p13 Microdeletion Syndrome	8
1597		PRN048	Prenatal Benign Hypophosphatasia	8
1598		DST087	Distal Trisomy 7p	8
1599		TBF001	Tibio-Fibular Synostosis	8
1600	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	8
1601		3Q2006	3q27.3 Microdeletion Syndrome	8
1602		MCR184	Macrodactyly of Fingers	8
1603		AML037	Amelia of Upper Limb	8
1604		MRN008	Marin-Amat Syndrome	8
1605	c	PST077	Posterior Meningocele	8
1606		PRC042	Parachute Tricuspid Valve	8
1607		ACC010	Accessory Tricuspid Valve Tissue	8
1608		ECT107	Ectasia of the Left Atrial Appendage	8
1609		CHR512	Cheirospondyloenchondromatosis	8
1610		APD003	Apodia	8
1611		OKH001	Okihiro Syndrome Due to a Point Mutation	8
1612		PHK009	Phakomatosis Cesiomarmorata	8
1613		HYP584	Hypotrichosis-Intellectual Disability, Lopes Type	8
1614		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	8
1615		BPR001	Bipartite Talus	8
1616	c	ZYG005	Zygodactyly Type 4	8
1617	c	GLC032	Glaucoma, Hereditary	8
1618	c	ATS410	Autosomal Dominant Intellectual Disability 49	7
1619	c	CNG348	Congenital Sialidosis Type 2	7
1620	c	ATS360	Autosomal Recessive Intellectual Disability 58	7
1621	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	7
1622	P	RBN007	Rubinstein Taybi Like Syndrome	7
1623		DNC006	Diencephalic-Mesencephalic Junction Dysplasia	7
1624		LRY034	Laryngotracheal Angioma	7
1625		DST085	Distal Trisomy 2q	7
1626	c	LRY050	Laryngotracheoesophageal Cleft Type 2	7
1627		DST076	Distal Trisomy 13q	7
1628		TRS020	Tarsal Kink Syndrome	7
1629		MCR285	Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	7
1630		PRX083	Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	7
1631		INT254	Intermediate Anorectal Malformation	7
1632		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	7
1633	c	PRD042	Prader-Willi-Like Syndrome Due to a Point Mutation	7
1634	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	7
1635		TNN014	Tunnel Subaortic Stenosis	7
1636		IDP088	Idiopathic Isolated Micropenis	7
1637		ATS109	Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	7
1638		HMR031	Humeral Agenesis/hypoplasia	7
1639		HYP500	Hyperphalangy, Unilateral	7
1640	c	CNG476	Congenital Systemic Arteriovenous Fistula	7
1641		CNG272	Congenital Achiasma	7
1642		CRD171	Cordiform Uterus	7
1643		ISL034	Isolated Megalencephaly	7
1644	c	BCK015	Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11	7
1645		DYR002	Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion	7
1646	c	LRY048	Laryngotracheoesophageal Cleft Type 0	7
1647		PRM187	Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	7
1648		RNN007	Reunion Island Larsen-Like Syndrome	7
1649		DST078	Distal Trisomy 6q	7
1650		4P1001	4p16.3 Microduplication Syndrome	7
1651	c	TRR002	Trio-Related Intellectual Disability	7
1652	c	ACR048	Acrorenal Syndrome Recessive	7
1653	c	WCR002	Wac-Related Intellectual Disability	7
1654	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	7
1655	c	SN3001	Sin3a-Related Intellectual Disability Syndrome	7
1656		CNG327	Congenital Epstein-Barr Virus Infection	6
1657		PRT111	Partial Septate Uterus	6
1658	c	ISL045	Isolated Focal Cortical Dysplasia Type I	6
1659		DST058	Distal Monosomy 12p	6
1660		INT186	Intralobar Congenital Pulmonary Sequestration	6
1661		BLR023	Biliary Atresia with Splenic Malformation Syndrome	6
1662		UPP009	Upper Limb Hypertrophy	6
1663		CNG287	Congenital Absence of Both Forearm and Hand	6
1664		DST069	Distal Monosomy 12q	6
1665		CNG289	Congenital Absence/hypoplasia of Thumb	6
1666	c	PTR021	Paternal Uniparental Disomy of Chromosome 21	6
1667		DST073	Distal Monosomy 7p	6
1668		TRG018	Trigonocephaly-Broad Thumbs Syndrome	6
1669		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	6
1670	c	ISL040	Isolated Focal Cortical Dysplasia Type Ia	6
1671		DST066	Distal Monosomy 20q	6
1672		CNG359	Congenitally Uncorrected Transposition of the Great Arteries with Coarctation	6
1673		DST057	Distal Trisomy 19q	6
1674		HYP501	Hyperphalangy, Bilateral	6
1675		RDL019	Radio-Ulnar Synostosis, Unilateral	6
1676		CNG259	Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation	6
1677	c	PRD024	Prader-Willi Syndrome Due to Translocation	6
1678	c	ATS403	Autosomal Dominant Intellectual Disability 40	6
1679		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	6
1680		CNG290	Congenital Absence of Both Lower Leg and Foot	6
1681		20P002	20p13 Microdeletion Syndrome	6
1682		PLM157	Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome	6
1683	c	BCK011	Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion	6
1684		1P3003	1p35.2 Microdeletion Syndrome	6
1685	c	ANG058	Angelman Syndrome Due to a Point Mutation	6
1686	c	CLR027	Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules	6
1687		MSC079	Mosaic Trisomy 1	6
1688		MDN007	Median Cleft Lip/mandibule	6
1689		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	6
1690		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
1691		14Q003	14q11.2 Microduplication Syndrome	6
1692		7Q3001	7q31 Microdeletion Syndrome	6
1693		DST054	Distal 17p13.3 Microdeletion Syndrome	6
1694		MCR295	Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	6
1695		RTN189	Retinal Capillary Malformation	6
1696	c	ATS348	Autosomal Dominant Intellectual Disability 30	6
1697		EXT047	Extralobar Congenital Pulmonary Sequestration	6
1698		DST088	Distal Trisomy 1p36	6
1699		BCR005	Bicervical Bicornuate Uterus and Blind Hemivagina	6
1700		BCK010	Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion	6
1701	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	6
1702		HMR036	Humero-Ulnar Synostosis, Unilateral	6
1703	c	LSS021	Lissencephaly with Cerebellar Hypoplasia Type a	6
1704		12Q001	12q15q21.1 Microdeletion Syndrome	6
1705		11P002	11p15.4 Microduplication Syndrome	6
1706		CRP029	Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	6
1707	P	HRT016	Heart Defect, Tongue Hamartoma and Polysyndactyly	6
1708	P	CRB127	Cerebrofacial Arteriovenous Metameric Syndrome Type 3	6
1709		EXT043	External Auditory Canal Aplasia/hypoplasia	6
1710		DST084	Distal Trisomy 8q	6
1711		ISL028	Isolated Cerebellar Vermis Hypoplasia	6
1712	c	CRB128	Cerebrofacial Arteriovenous Metameric Syndrome Type 1	6
1713	P	ISL038	Isolated Focal Cortical Dysplasia Type Ib	6
1714		SVR046	Severe Lateral Tibial Bowing with Short Stature	6
1715	c	LSS023	Lissencephaly with Cerebellar Hypoplasia Type C	6
1716		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	6
1717		DST075	Distal Trisomy 16q	6
1718		BLK004	Blake Pouch Cyst	6
1719	c	ISL039	Isolated Focal Cortical Dysplasia Type Ic	6
1720		HMR037	Humero-Ulnar Synostosis, Bilateral	6
1721		DST077	Distal Trisomy 22q	6
1722		14Q005	14q24.1q24.3 Microdeletion Syndrome	6
1723	c	LSS020	Lissencephaly with Cerebellar Hypoplasia Type B	6
1724		CHN052	Choanal Atresia, Bilateral	6
1725		PRT098	Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome	6
1726		CCH007	Cochleovestibular Dysplasia	6
1727		DST070	Distal Monosomy 4q	6
1728		ISL022	Isolated Congenital Nasal Pyriform Aperture Stenosis	6
1729		16Q002	16q24.1 Microdeletion Syndrome	6
1730		RDL020	Radio-Ulnar Synostosis, Bilateral	6
1731		9Q3001	9q31.1q31.3 Microdeletion Syndrome	6
1732		DBL016	Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy	6
1733		CMM018	Common Mesentery	6
1734	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	5
1735		ISL079	Isolated Encephalocele	5
1736		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	5
1737		ART099	Aortic Valve Dysplasia	5
1738		CNG351	Congenital Partial Pulmonary Venous Return Anomaly	5
1739		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	5
1740		SYN096	Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication	5
1741		MCR190	Macrodactyly of Toes, Unilateral	5
1742		ATY020	Atypical Norrie Disease Due to Monosomy Xp11.3	5
1743	c	PTR020	Paternal Uniparental Disomy of Chromosome 20	5
1744		NND007	Non-Distal Monosomy 12q	5
1745		3Q2005	3q26q27 Microdeletion Syndrome	5
1746		NND009	Non-Distal Trisomy 9q	5
1747		DST067	Distal Monosomy 14q	5
1748		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	5
1749		CNG334	Congenital Esophageal Diverticulum	5
1750		INT285	Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome	5
1751		XYL001	Xylt1-Cdg	5
1752		MCR188	Macrodactyly of Fingers, Unilateral	5
1753		NND006	Non-Distal Monosomy 20q	5
1754	c	HYD017	Hydrocephalus Autosomal Recessive	5
1755		ISL029	Isolated Anorectal Malformation	5
1756		SBC038	Sub-Cortical Nodular Heterotopia	5
1757		UTR055	Uterine Cervical Aplasia and Agenesis	5
1758		FCL034	Facial Dermoid Cyst	5
1759		MDL017	Madelung Deformity, Bilateral	5
1760		CMM016	Commissural Lip Fistula	5
1761		ISL047	Isolated Unilateral Hemispheric Cerebellar Hypoplasia	5
1762		ISL051	Isolated Partial Cerebellar Vermis Agenesis	5
1763		CNG353	Congenital Partial Agenesis of Pericardium	5
1764		ISL071	Isolated Congenital Ectropion	5
1765		PRT091	Partial Cryptophthalmia	5
1766	c	LSS019	Lissencephaly with Cerebellar Hypoplasia Type E	5
1767	P	SYC001	Say Carpenter Syndrome	5
1768		DYS128	Dysplasia of Head of Femur, Meyer Type	5
1769		CMM017	Communicating Congenital Bronchopulmonary-Foregut Malformation	5
1770		DBL013	Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect	5
1771		CHN051	Choanal Atresia, Unilateral	5
1772		CNG517	Congenital Agenesis of the Scrotum	5
1773		CNG331	Congenital Bilateral Megacalycosis	5
1774		AGN009	Agenesis and Aplasia of Uterine Body	5
1775		ISL056	Isolated Lissencephaly Type 1 Without Known Genetic Defects	5
1776		16P011	16p12.1p12.3 Triplication Syndrome	5
1777	c	LSS022	Lissencephaly with Cerebellar Hypoplasia Type D	5
1778		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	5
1779		INT341	Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	5
1780		CNG536	Congenital Stenosis or Atresia of the Coronary Ostium	5
1781		UNL012	Unilateral Hemispheric Polymicrogyria	5
1782		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	5
1783		ERL027	Early-Onset Non-Syndromic Cataract	5
1784		MTR068	Mitral Valve Agenesis	5
1785		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	5
1786		20Q002	20q11.2 Microduplication Syndrome	5
1787		ISL117	Isolated Congenital Radial Head Dislocation	5
1788		UNL009	Unilateral Congenital Megacalycosis	5
1789		CNG391	Congenital Pseudoarthrosis of the Limbs	5
1790	c	ISL052	Isolated Total Cerebellar Vermis Agenesis	5
1791		CNG354	Congenital Complete Agenesis of Pericardium	5
1792	P	LSS018	Lissencephaly with Cerebellar Hypoplasia Type F	5
1793		AML036	Amelia of Lower Limb	5
1794		TRC084	Tricuspid Valve Agenesis	5
1795		LWR011	Lower Lip Fistula	5
1796	P	ISL048	Isolated Cerebellar Vermis Agenesis	5
1797		MDL018	Madelung Deformity, Unilateral	5
1798		PRM160	Premature Closure of the Arterial Duct	5
1799		ERL042	Early-Onset Partial Cataract	5
1800		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	5
1801		ISL046	Isolated Bilateral Hemispheric Cerebellar Hypoplasia	5
1802	c	OCL037	Oculodentodigital Dysplasia Dominant	5
1803	c	GLC029	Glaucoma Type 1c	4
1804	c	GLC033	Glaucoma, Hereditary Adult Type 1a	4
1805	c	GLC035	Glaucoma, Primary Infantile Type 3a	4
1806	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	4
1807	c	ATS022	Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract	4
1808		ISL044	Isolated Arhinencephaly	4
1809		INT219	Intramural Coronary Arterial Course	4
1810		HYP506	Hypoplasia of the Mitral Valve Annulus	4
1811		OPN003	Open Iniencephaly	4
1812		CLS021	Closed Iniencephaly	4
1813		ISL106	Isolated Congenital Microcephaly	4
1814	c	FML317	Familial Monosomy 7 Syndrome	4
1815		MCR189	Macrodactyly of Toes, Bilateral	4
1816	c	PTR023	Paternal Uniparental Disomy of Chromosome 13	4
1817	P	TSS001	Tessier Number 5 Facial Cleft	4
1818		LWM001	Low Implantation of Placenta	4
1819	c	PRM147	Primary Megaureter, Adult-Onset Form	4
1820		2P1003	2p13.2 Microdeletion Syndrome	4
1821	c	MTR079	Maternal Uniparental Disomy of Chromosome 13	4
1822		CNG315	Congenital Vertical Talus, Unilateral	4
1823	c	MTR065	Maternal Uniparental Disomy of Chromosome 21	4
1824		ISL107	Isolated Congenital Syngnathia	4
1825		MCR280	Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	4
1826		MCR367	Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	4
1827		SPN339	Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	4
1828		4Q2002	4q25 Proximal Deletion Syndrome	4
1829		MCR187	Macrodactyly of Fingers, Bilateral	4
1830		ENC035	Encircling Double Aortic Arch	4
1831		DGS007	Digestive Duplication	4
1832		CNG316	Congenital Vertical Talus, Bilateral	4
1833		MYB004	Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	4
1834	c	ARX002	Arx-Related Intellectual Disability	4
1835	c	DDX001	Ddx3x-Related Intellectual Disability	4
1836	c	ACS002	Acsl4-Related Intellectual Disability	4
1837		PRT109	Partially Involuting Congenital Hemangioma	4
1838		CNG493	Congenital Generalized Hypercontractile Muscle Stiffness Syndrome	4
1839		STR075	Straddling or Overriding Tricuspid Valve	4
1840		STR076	Straddling and/or Overriding Mitral Valve	4
1841		17Q012	17q24.2 Microdeletion Syndrome	4
1842		CNG361	Congenital Supravalvular Mitral Ring	4
1843		PNN004	Pinnae Fistula or Cyst	4
1844		CNG270	Congenital Primary Megaureter, Obstructed Form	4
1845		UNV004	Univentricular Heart with Single Atrio-Ventricular Valve	4
1846		ISL035	Isolated Amyelia	4
1847		LTH040	Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome	4
1848		ISL132	Isolated Megalopapilla	4
1849		MLP005	Malposition of the Coronary Ostium	4
1850		ISL130	Isolated Congenital Entropion	4
1851		SPR139	Superior Celosomia	4
1852		XLN147	X-Linked Intellectual Disability, Stoll Type	4
1853		INT227	Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	4
1854		CNG360	Congenital Unguarded Mitral Orifice	4
1855		CNG269	Congenital Primary Megaureter, Refluxing Form	4
1856		OVR117	Overgrowth Syndrome with 2q37 Translocation	4
1857		FRN038	Frontonasal Arteriovenous Malformation	4
1858		BCK016	Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication	4
1859		NSL027	Nasal Dorsum Fistula	4
1860		CNG268	Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form	4
1861		ISL127	Isolated Blepharochalasis	4
1862		CRD212	Cardiac Anomalies-Heterotaxy Syndrome	4
1863		ABN010	Abnormal Number of Coronary Ostia	4
1864		LPT012	Leptomyelolipoma	4
1865		SPR109	Supratip Dysplasia	4
1866		ISL126	Isolated Iridoschisis	4
1867		TRC124	True Congenital Shoulder Dislocation	4
1868		MCR358	Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	4
1869		CRN206	Coronary Artery Intramyocardial Course	4
1870		CNG349	Congenital Patent Ductus Arteriosus Aneurysm	4
1871		DSC011	Discrete Fibromuscular Subaortic Stenosis	4
1872		XLN157	X-Linked Intellectual Disability, Porteous Type	4
1873		ART114	Aortopulmonary Coronary Arterial Course	4
1874		ANM025	Anomaly of the Mitral Subvalvular Apparatus	4
1875	c	FRG006	Fragile X Syndrome Type 3	4
1876	c	FRG005	Fragile X Syndrome Type 2	4
1877	c	FRG004	Fragile X Syndrome Type 1	4
1878		NNT001	Neonatal Infective Mastitis	4
1879		SGM005	Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia	3
1880		CNT081	Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome	3
1881		SPG003	Spigelian Hernia-Cryptorchidism Syndrome	3
1882		MDN006	Median Cleft of the Upper Lip and Maxilla	3
1883		DPH029	Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome	3
1884		CNG321	Congenital Elbow Dislocation, Bilateral	3
1885		CNG317	Congenital Genu Flexum	3
1886		CNG322	Congenital Elbow Dislocation, Unilateral	3
1887		TBL020	Tubular Duplication of the Esophagus	3
1888	c	TSS003	Tessier Number 6 Facial Cleft	3
1889		GLP005	Glioependymal/ependymal Cyst	3
1890		INT248	Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	3
1891		INT305	Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	3
1892		CRV059	Cervicofacial Fibrochondroma	3
1893	P	LGB001	Leg Absence Deformity Cataract	3
1894		EPB005	Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome	3
1895		EMB004	Embryonal Carcinoma	60
1896		PRL032	Perlman Syndrome	44
1897	c	WLM018	Wilms Tumor 5	64
1898	c	WLM011	Wilms Tumor 6	40
1899	P	HRD009	Hereditary Wilms' Tumor	35
1900	c	WLM005	Wilms Tumor 2	20
1901	c	WLM017	Wilms Tumor 4	19
1902	c	WLM015	Wilms Tumor 3	15
1903	c	FML094	Familial Wilms Tumor 2	7
1904	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	38
1905	c	CNG133	Congenital Varicella Syndrome	29
1906	P	VRC007	Varicella, Severe Recurrent	8
1907		TWN001	Twin-to-Twin Transfusion Syndrome	51
1908		FTL009	Fetal Akinesia Deformation Sequence	53
1909		DTH005	Diethylstilbestrol Syndrome	32
1910		IMM039	Immune Hydrops Fetalis	30
1911		FTL011	Fetal Aminopterin Syndrome	9
1912		FTL018	Fetal Indomethacin Syndrome	16
1913	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	14
1914		TST033	Testicular Regression Syndrome	32
1915		EMB015	Embryonal Tumor with Multilayered Rosettes	28
1916	P	END039	Endodermal Sinus Tumor	46
1917		TRT001	Teratocarcinoma	41
1918		GCH018	Gaucher Disease, Perinatal Lethal	37
1919	c	ADL047	Adult Endodermal Sinus Tumor	9
1920		MRS006	Morse-Rawnsley-Sargent Syndrome	5
1921	c	ART120	Arthrogryposis, Distal, Type 3	52
1922	c	ART119	Arthrogryposis, Distal, Type 5	50
1923	c	ART061	Arthrogryposis, Distal, Type 2a	45
1924	c	ART146	Arthrogryposis, Distal, Type 9	41
1925	P	BTR001	Botryoid Rhabdomyosarcoma	39
1926	c	PRS122	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	34
1927	c	ART147	Arthrogryposis, Distal, Type 7	34
1928	c	ART112	Arthrogryposis, Distal, Type 10	29
1929	c	ART128	Arthrogryposis, Distal, Type 6	23
1930		FTL024	Fetal Minoxidil Syndrome	15
1931	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	14
1932		PHN013	Phenobarbital Antenatal Exposure	8
1933	c	ADL031	Adult Botryoid Rhabdomyosarcoma	7
1934	P	RBL001	Rubella	62
1935		GRM005	Germ Cell Cancer	54
1936	c	CNG124	Congenital Rubella	49
1937		EMB007	Embryonal Sarcoma	47
1938		BWN001	Bowen-Conradi Syndrome	43
1939	c	ANT086	Anterior Segment Dysgenesis 2	38
1940		FTL064	Fetal Methylmercury Syndrome	26
1941		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	25
1942		AMN014	Aminopterin Syndrome Sine Aminopterin	25
1943	c	LTH042	Lethal Congenital Contracture Syndrome 10	24
1944		HRS002	Hersh Podruch Weisskopk Syndrome	21
1945		MTR016	Maternal Hyperphenylalaninemia	20
1946		CCN012	Cocaine Antenatal Exposure	19
1947		WLL022	Well-Differentiated Fetal Adenocarcinoma of the Lung	13
1948		NNT022	Neonatal Ovarian Cyst	12
1949	P	FTL014	Fetal Brain Disruption Sequence	11
1950		CHL031	Childhood Vagina Botryoid Rhabdomyosarcoma	8
1951		SMM002	Semmekrot Haraldsson Weemaes Syndrome	3
1952		FTL017	Fetal Enterovirus Syndrome	3
1953	P	OST002	Osteoporosis	74
1954		APR006	Apert Syndrome	70
1955	c	ART115	Aortic Valve Disease 1	70
1956	P	CRN037	Craniosynostosis	66
1957	c	MCL062	Mucolipidosis Ii Alpha/beta	65
1958	c	CNG411	Congenital Disorder of Glycosylation, Type in	65
1959	P	CRN015	Cornelia De Lange Syndrome	64
1960	P	HYP055	Hypoplastic Left Heart Syndrome	62
1961	P	AXN002	Axenfeld-Rieger Syndrome	62
1962	P	INT068	Intestinal Disease	62
1963		PTR032	Peters-Plus Syndrome	61
1964		DNH001	Donohue Syndrome	60
1965		PLM070	Pulmonic Stenosis	60
1966		OCL020	Ocular Cicatricial Pemphigoid	60
1967	c	SPN294	Spinocerebellar Ataxia 1	60
1968	P	SPN301	Spinocerebellar Ataxia 2	60
1969	c	GLC097	Glaucoma 3, Primary Congenital, a	59
1970	P	MCR010	Microcephaly	59
1971		PLC008	Placenta Disease	59
1972		PTN001	Patent Foramen Ovale	59
1973	c	MYT020	Myotonic Dystrophy 2	59
1974	c	SPN327	Spinocerebellar Ataxia, Autosomal Recessive 1	59
1975	P	INT099	Intrahepatic Cholestasis of Pregnancy	59
1976	c	VSC019	Vesicoureteral Reflux 1	58
1977	P	SLV001	Silver-Russell Syndrome	58
1978		PLC005	Placental Insufficiency	58
1979		SMT008	Smith-Magenis Syndrome	58
1980		CHR619	Chromosome 2q35 Duplication Syndrome	58
1981	P	EPD009	Epidermolysis Bullosa Dystrophica	58
1982	c	INT072	Intestinal Pseudo-Obstruction	57
1983		CNT061	Conotruncal Heart Malformations	57
1984	P	VND007	Van Der Woude Syndrome 1	57
1985	c	CRN139	Cornelia De Lange Syndrome 1	56
1986		MCN017	Meconium Ileus	56
1987	P	STC001	Stickler Syndrome	56
1988		ATX031	Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus	56
1989		VTM027	Vitamin D-Dependent Rickets, Type 2a	56
1990		GRG001	Greig Cephalopolysyndactyly Syndrome	56
1991		ADR056	Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete	55
1992		DXT001	Dextrocardia	55
1993	P	INT070	Intestinal Obstruction	55
1994	P	STS008	Sotos Syndrome 1	55
1995	P	HYD033	Hydrolethalus Syndrome 1	55
1996		RTN209	Retinoschisis 1, X-Linked, Juvenile	55
1997	c	BRC051	Brachydactyly, Type B1	55
1998	P	SCK004