Fetal Diseases Category (5613 diseases)

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

#	Family	MCID	Name	MIFTS
1		FTL028	Fetal Retinoid Syndrome	25
2	P	PRG092	Pregnancy Loss, Recurrent 1	45
3		CHL179	Childhood Cns Embryonal Cell Carcinoma	8
4		TWN001	Twin-to-Twin Transfusion Syndrome	39
5	P	PRM252	Preimplantation Embryonic Lethality 1	26
6		CHL043	Childhood Embryonal Testis Carcinoma	8
7	c	FTL070	Fetal Akinesia Deformation Sequence 2	38
8	c	FTL072	Fetal Akinesia Deformation Sequence 4	36
9	c	FTL071	Fetal Akinesia Deformation Sequence 3	31
10	P	FTL001	Fetal Alcohol Syndrome	57
11	c	FTL006	Fetal Alcohol Spectrum Disorder	42
12	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	40
13	c	ADL007	Adult Central Nervous System Embryonal Carcinoma	7
14		FTL004	Fetal Erythroblastosis	36
15		FTL066	Fetal Akinesia Syndrome, X-Linked	14
16		FTL011	Fetal Aminopterin Syndrome	12
17	P	EMB005	Embryonal Rhabdomyosarcoma	60
18		NCH001	Nuchal Bleb, Familial	31
19		ORB002	Orbit Embryonal Rhabdomyosarcoma	30
20	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	25
21		INT041	Intratubular Embryonal Carcinoma	25
22		DFN191	Deafness, Congenital Heart Defects, and Posterior Embryotoxon	24
23	c	PRM251	Preimplantation Embryonic Lethality 2	18
24	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	53
25	c	PNT057	Pontocerebellar Hypoplasia, Type 1e	52
26		GCH018	Gaucher Disease, Perinatal Lethal	50
27	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	50
28	c	PNT037	Pontocerebellar Hypoplasia, Type 3	49
29	c	PNT036	Pontocerebellar Hypoplasia, Type 6	48
30	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	47
31	P	PNT019	Pontocerebellar Hypoplasia	46
32	c	PNT043	Pontocerebellar Hypoplasia, Type 4	46
33	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	45
34	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	44
35	c	PNT032	Pontocerebellar Hypoplasia, Type 9	44
36	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	43
37	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	41
38	c	PNT039	Pontocerebellar Hypoplasia, Type 7	41
39	c	PNT050	Pontocerebellar Hypoplasia, Type 11	38
40	c	PNT033	Pontocerebellar Hypoplasia, Type 10	37
41	c	PNT053	Pontocerebellar Hypoplasia, Type 13	35
42	c	PNT052	Pontocerebellar Hypoplasia, Type 12	34
43	c	PNT030	Pontocerebellar Hypoplasia, Type 8	34
44	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	34
45	c	CTR102	Cataract 2, Multiple Types	33
46	c	PNT059	Pontocerebellar Hypoplasia, Type 16	31
47	c	PNT046	Pontocerebellar Hypoplasia, Type 5	30
48	c	PNT056	Pontocerebellar Hypoplasia, Type 15	29
49	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	28
50		PRS010	Prostate Embryonal Rhabdomyosarcoma	28
51	c	PNT055	Pontocerebellar Hypoplasia, Type 14	26
52		MTR016	Maternal Hyperphenylalaninemia	23
53	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	22
54	c	PNT058	Pontocerebellar Hypoplasia, Type 1f	21
55	c	PNT060	Pontocerebellar Hypoplasia, Type 17	21
56		CRD031	Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification	7
57		VLV013	Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma	5
58		NNC014	Non-Central Nervous System-Localized Embryonal Carcinoma	5
59		FTL076	Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, and Dysmorphic Facies	25
60	P	CTR002	Cataract	60
61		BLS003	Blastoma	48
62	c	CTR103	Cataract 4, Multiple Types	47
63	c	CTR096	Cataract 6, Multiple Types	44
64	c	CTR118	Cataract 14, Multiple Types	40
65	c	CTR115	Cataract 16, Multiple Types	39
66	c	CTR170	Cataract 30, Multiple Types	39
67	c	CTR174	Cataract 40	38
68	c	CTR113	Cataract 11, Multiple Types	38
69	c	CTR145	Cataract 44	37
70	c	CTR129	Cataract 31, Multiple Types	36
71	c	CTR181	Cataract 18	35
72	c	CTR122	Cataract 5, Multiple Types	34
73	c	CTR183	Cataract 38	34
74		ALC036	Alcohol-Related Birth Defects	34
75	c	CTR095	Cataract 8, Multiple Types	34
76	c	CTR131	Cataract 17, Multiple Types	32
77	c	CTR187	Cataract 48	32
78	c	CTR111	Cataract 36	32
79	c	CTR185	Cataract 30	32
80	c	CTR175	Cataract 24	30
81	c	CTR119	Cataract 32, Multiple Types	30
82	c	CTR141	Cataract 21, Multiple Types	29
83	c	CTR180	Cataract 22, Multiple Types	27
84	c	CTR166	Cataract 33, Multiple Types	26
85	c	CTR121	Cataract 25	26
86	c	CTR097	Cataract 34, Multiple Types	26
87		PRM208	Parameningeal Embryonal Rhabdomyosarcoma	25
88		PRT001	Partial Fetal Alcohol Syndrome	24
89	c	CTR169	Cataract 29	24
90	c	CTR165	Cataract 19, Multiple Types	24
91	c	CTR162	Cataract 47	23
92	c	CTR157	Cataract 28	23
93		CCN012	Cocaine Antenatal Exposure	23
94	c	CTR158	Cataract 37	23
95	c	CTR184	Cataract 39, Multiple Types	22
96	c	CTR106	Cataract 20, Multiple Types	22
97	c	CTR110	Cataract 26, Multiple Types	22
98	c	CTR160	Cataract 45	21
99	c	CTR144	Cataract 43	21
100	c	CTR178	Cataract 27	21
101	c	CTR128	Cataract 33	20
102	c	CTR159	Cataract 35	20
103		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	20
104	c	CTR139	Cataract 42	20
105	c	CTR190	Cataract 49	18
106		CHL183	Childhood Infratentorial Embryonal Tumor with Multilayered Rosettes, C19mc-Altered	8
107		CHL185	Childhood Embryonal Tumor with Multilayered Rosettes, C19mc-Altered	8
108	c	CTR008	Cataract Congenital Autosomal Dominant	5
109		CHL161	Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19mc-Altered	5
110		FTL077	Fetal Akinesia Deformation Sequence Syndrome X-Linked	4
111	c	CNG411	Congenital Disorder of Glycosylation, Type in	67
112	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	61
113	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	59
114	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	52
115	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	52
116	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	51
117	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	49
118	c	CNG199	Congenital Disorder of Glycosylation, Type Im	49
119	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	48
120	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	48
121	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	47
122	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	47
123	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	47
124	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	47
125	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	46
126	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	46
127	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	45
128	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	45
129	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	45
130	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	44
131	c	CNG198	Congenital Disorder of Glycosylation, Type Il	42
132	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	42
133	c	CNG379	Congenital Disorder of Glycosylation, Type It	42
134	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	42
135	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	41
136	c	CNG195	Congenital Disorder of Glycosylation, Type Id	41
137	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	40
138	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	40
139	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	40
140		FTL021	Fetal Macrosomia	39
141	c	CTR132	Cataract 3, Multiple Types	39
142	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	37
143	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	36
144	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	36
145	c	CNG188	Congenital Disorder of Glycosylation, Type if	35
146	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	35
147	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	34
148	P	ART169	Arthrogryposis Multiplex Congenita 6	31
149		PLY036	Polyembryoma	28
150	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	28
151	c	CNG626	Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive	27
152	c	ART167	Arthrogryposis Multiplex Congenita 5	27
153	c	CNG623	Congenital Disorder of Glycosylation, Type Iiw	26
154	c	CNG622	Congenital Disorder of Glycosylation, Type 2v	26
155		PRV001	Parovarian Cyst	25
156	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	25
157	c	CNG627	Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant	24
158	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	23
159		FTL005	Fetal Adenoma	21
160		SLC041	Selective Intrauterine Growth Restriction	19
161		MCR070	Microcornea, Glaucoma, and Absent Frontal Sinuses	19
162	c	ART171	Arthrogryposis Multiplex Congenita-3	14
163	c	ART170	Arthrogryposis Multiplex Congenita-1	13
164	c	RR2001	Ror2-Related Robinow Syndrome	13
165	c	ADL102	Adult Embryonal Tumor with Multilayered Rosettes, C19mc-Altered	13
166		NNT022	Neonatal Ovarian Cyst	12
167	c	ART172	Arthrogryposis Multiplex Congenita-4	12
168	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	10
169		HYD069	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism	10
170	c	CNG628	Congenital Disorder of Glycosylation Iw	9
171		THY113	Thymic Aplasia with Fetal Death	8
172	P	DSR041	Disorder of Multiple Glycosylation	6
173		MXD015	Mixed Type Rhabdomyosarcoma	6
174		FTL020	Fetal Left Ventricular Aneurysm	4
175		SMT021	Somatomedin, Embryonic	4
176		FTL063	Fetal Nicotine Spectrum Disorder	3
177		CHL153	Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified	3
178		FTL017	Fetal Enterovirus Syndrome	2
179		FTL025	Fetal Parainfluenza Virus Type 3 Syndrome	1
180		FTL027	Fetal Phenothiazine Syndrome	1
181	P	HRT032	Heart Disease	80
182		BSL036	Basal Cell Nevus Syndrome	74
183	c	MCP052	Mucopolysaccharidosis, Type Vi	70
184	P	RTH006	Rothmund-Thomson Syndrome, Type 2	69
185	P	MCK013	Meckel Syndrome, Type 1	67
186		CHR103	Charge Syndrome	66
187		RBR002	Roberts-Sc Phocomelia Syndrome	66
188		HJD001	Hajdu-Cheney Syndrome	64
189	P	BTH005	Bethlem Myopathy 1	64
190	P	PRD006	Prader-Willi Syndrome	62
191		STR039	Sturge-Weber Syndrome	62
192		WLK001	Walker-Warburg Syndrome	61
193	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	61
194		MRS002	Marshall Syndrome	61
195	P	CRN323	Cranioectodermal Dysplasia	60
196	P	CMR001	Camurati-Engelmann Disease	60
197	c	MCR241	Microphthalmia, Syndromic 3	59
198	c	CLR131	Ciliary Dyskinesia, Primary, 1	59
199		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	59
200	P	PLY006	Polydactyly	59
201	P	VNT002	Ventricular Septal Defect	58
202	P	ATR010	Atrial Heart Septal Defect	58
203	P	CTS001	Cutis Laxa	57
204	P	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	57
205		CLF004	Cleft Lip/palate	57
206		MND021	Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome	57
207	P	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	56
208		3MC003	3mc Syndrome	56
209		BRN003	Branchiooculofacial Syndrome	55
210	c	BRC078	Brachydactyly, Type A1	54
211		TRC062	Tricuspid Atresia	54
212	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	54
213		MSC077	Muscle Eye Brain Disease	54
214	P	KLN006	Koolen-De Vries Syndrome	54
215		BWN001	Bowen-Conradi Syndrome	53
216		LPD016	Lipoid Proteinosis of Urbach and Wiethe	52
217	P	TBH003	Teebi Hypertelorism Syndrome 1	52
218		RPD005	Rapidly Involuting Congenital Hemangioma	52
219	P	VND002	Van Der Woude Syndrome	52
220	c	MCR263	Microphthalmia, Syndromic 1	51
221		PRL023	Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome	51
222	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	51
223		THR009	Thrombocytopenia-Absent Radius Syndrome	51
224		KFM001	Kaufman Oculocerebrofacial Syndrome	50
225	c	WRD020	Waardenburg Syndrome, Type 4a	50
226		CHR005	Chorioamnionitis	50
227		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	50
228		DND001	Dandy-Walker Syndrome	50
229	c	TRN032	Transient Neonatal Diabetes Mellitus	50
230		OLG003	Oligohydramnios	50
231	c	CRN108	Cranioectodermal Dysplasia 1	49
232	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	49
233		MRG013	Mirage Syndrome	49
234	c	WRD032	Waardenburg Syndrome, Type 2a	49
235		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	49
236	c	DFN036	Deafness, X-Linked 2	48
237		JCB001	Jacobsen Syndrome	48
238	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	48
239	c	MCK032	Meckel Syndrome, Type 3	47
240		FLP001	Filippi Syndrome	47
241	c	MCK033	Meckel Syndrome, Type 4	47
242	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	47
243	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	47
244		PTC001	Potocki-Shaffer Syndrome	47
245	c	MCK031	Meckel Syndrome, Type 2	47
246	c	WRD024	Waardenburg Syndrome, Type 4c	47
247		DSM017	Desmoplastic Nodular Medulloblastoma	47
248		PLY012	Polyhydramnios	47
249		CHR518	Chromosome 9p Deletion Syndrome	46
250		MCR173	Microform Holoprosencephaly	46
251	c	XFP001	Xfe Progeroid Syndrome	46
252	P	CRC039	Coarctation of Aorta	46
253	c	MCK014	Meckel Syndrome, Type 5	46
254	P	PLY148	Polydactyly, Preaxial Ii	45
255		CDG001	Cdags Syndrome	45
256	c	MCK012	Meckel Syndrome, Type 6	45
257	c	CHR408	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	45
258	c	OST136	Osteopetrosis, Autosomal Recessive 7	45
259	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	45
260	c	CRN111	Cranioectodermal Dysplasia 4	45
261		PLC008	Placenta Disease	45
262		TTR011	Tetraploidy	45
263	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	45
264	P	SYN075	Syngnathia	45
265		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	45
266		ELS006	Elsahy-Waters Syndrome	44
267		CLF056	Cleft Lip with or Without Cleft Palate	44
268		PLC001	Placenta Accreta	44
269	c	OST134	Osteopetrosis, Autosomal Recessive 6	44
270	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	44
271	P	PRD037	Periodontal Ehlers-Danlos Syndrome	44
272		KGM001	Kagami-Ogata Syndrome	43
273	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	43
274	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	43
275	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	43
276		SBV001	Subvalvular Aortic Stenosis	43
277	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	43
278	c	MCR212	Microphthalmia, Syndromic 12	42
279	c	CTS041	Cutis Laxa, Autosomal Dominant 3	42
280	c	MCP051	Mucopolysaccharidosis, Type Ix	42
281		CHR382	Chromosome 18q Deletion Syndrome	42
282	c	CLR134	Ciliary Dyskinesia, Primary, 3	42
283	c	CNG404	Congenital Heart Defects, Multiple Types, 4	41
284	c	PRM032	Primary Congenital Glaucoma	41
285		KTL001	Keutel Syndrome	40
286		CRP033	Corpus Callosum, Agenesis of, with Abnormal Genitalia	40
287	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	40
288		PLC009	Placenta Praevia	40
289		MBD001	Mbd5 Haploinsufficiency	40
290		TRP014	Triploidy	39
291	P	MTP001	Metaphyseal Dysplasia	39
292		INT232	Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	39
293	c	VND007	Van Der Woude Syndrome 1	39
294	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	39
295	P	SYN012	Synpolydactyly	38
296		FCL047	Facial Clefting, Oblique, 1	38
297	c	CRN109	Cranioectodermal Dysplasia 2	38
298	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	38
299	c	MCK034	Meckel Syndrome, Type 8	38
300		PLL008	Pallister-Killian Syndrome	38
301		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	38
302		DSN002	Desanto-Shinawi Syndrome	38
303	c	GLC083	Glaucoma 3, Primary Infantile, B	38
304		SHR109	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities	37
305	c	45X001	45,x/46,xy Mixed Gonadal Dysgenesis	37
306	c	BTH006	Bethlem Myopathy 2	37
307	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	37
308		FCL045	Focal Facial Dermal Dysplasia 3, Setleis Type	37
309		CHR377	Chromosome 10q26 Deletion Syndrome	36
310	c	WRD019	Waardenburg Syndrome, Type 4b	36
311		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	36
312		EMN001	Emanuel Syndrome	36
313	P	MXD016	Mixed Gonadal Dysgenesis	35
314	c	WRD022	Waardenburg Syndrome, Type 2d	35
315		FCL090	Facial Cleft	35
316	c	CTS031	Cutis Laxa, Autosomal Dominant 2	35
317	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	34
318	c	WRD029	Waardenburg Syndrome, Type 2b	34
319		49X010	49,xxxxx Syndrome	34
320	P	SYN165	Syndromic Microphthalmia	34
321		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	34
322	P	CHR200	Chromosome 16 Trisomy	33
323	c	VNT028	Ventricular Septal Defect 1	33
324		CHR379	Chromosome 15q26-Qter Deletion Syndrome	33
325	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	33
326		SPN012	Spindle Cell Hemangioma	33
327		CRR017	Curry-Jones Syndrome	32
328		RVL002	Ruvalcaba Syndrome	32
329		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	32
330	c	PK3005	Pik3ca-Related Overgrowth Syndrome	32
331	c	RNG018	Ring Chromosome 22	32
332		CLF049	Cleft Lip and Alveolus	32
333	c	HYD040	Hydrolethalus Syndrome 2	32
334		SGR001	Sugarman Brachydactyly	31
335	c	RNG017	Ring Chromosome 21	31
336		ACR017	Acrofacial Dysostosis	31
337		HLZ001	Holzgreve Syndrome	31
338		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	30
339		CLR127	Ciliary Dyskinesia, Primary, 36, X-Linked	30
340	c	MNS014	Monosomy 22	30
341		CHR270	Chromosome 9p Duplication	30
342	c	RNG004	Ring Chromosome 1	30
343		RGH010	Right Ventricular Hypoplasia, Isolated	30
344	c	MCR392	Microphthalmia, Syndromic 16	30
345		ATY016	Atypical Werner Syndrome	30
346		CHR229	Chromosome 20p Duplication	30
347		FRS007	Frias Syndrome	30
348		MCR302	Macrostomia, Isolated	30
349		PSD046	Pseudotrisomy 13 Syndrome	29
350		PRT048	Partial Atrioventricular Canal	29
351	c	FRN032	Frontonasal Dysplasia 3	29
352		RGH006	Right Aortic Arch	29
353	c	WRD026	Waardenburg Syndrome, Type 2c	29
354		CHR209	Chromosome 17p Duplication	29
355		ISL096	Isolated Klippel-Feil Syndrome	29
356	c	CNG520	Congenital Heart Defects, Multiple Types, 6	29
357		SPN133	Spondyloepimetaphyseal Dysplasia with Multiple Dislocations	29
358		HMF010	Hemifacial Microsomia with Radial Defects	29
359		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	29
360		CHR707	Chromosome 13q33-Q34 Deletion Syndrome	28
361		UNV002	Univentricular Heart	28
362		CHR190	Chromosome 12p Duplication	28
363		CHR266	Chromosome 8p23.1 Deletion	28
364		NBL001	Nablus Mask-Like Facial Syndrome	28
365		MSC016	Mosaic Trisomy 14	28
366	c	MCK035	Meckel Syndrome, Type 10	28
367		CBB002	Cobb Syndrome	28
368	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	28
369		16Q001	16q24.3 Microdeletion Syndrome	28
370		OST153	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	28
371	c	MCK020	Meckel Syndrome, Type 11	27
372		NNS135	Non-Syndromic Sagittal Craniosynostosis	27
373		FNT003	Fountain Syndrome	27
374	c	CRN110	Cranioectodermal Dysplasia 3	27
375	c	SHR129	Short-Rib Thoracic Dysplasia 21 Without Polydactyly	27
376		HLP031	Holoprosencephaly 12 with or Without Pancreatic Agenesis	27
377	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	27
378	c	MCK028	Meckel Syndrome 13	27
379	c	ATR093	Atrial Heart Septal Defect 7	27
380	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	27
381	c	CNG511	Congenital Heart Defects, Multiple Types, 2	26
382		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	26
383	P	SPN236	Spina Bifida Cystica	26
384		NNN007	Non-Involuting Congenital Hemangioma	26
385		OCL030	Oculoauriculofrontonasal Syndrome	26
386	c	CTR105	Cataract 12, Multiple Types	26
387		STN006	Steinfeld Syndrome	26
388		ULN023	Ulnar Hypoplasia	26
389		PRT091	Partial Cryptophthalmia	26
390	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	25
391	P	CRB210	Cerebrofacial Arteriovenous Metameric Syndrome	25
392	c	VND004	Van Der Woude Syndrome 2	25
393	c	CNG521	Congenital Heart Defects, Multiple Types, 5	25
394	P	PRG139	Progeroid Syndrome	25
395		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	25
396	c	MYS084	Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive	25
397	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	25
398		NNT005	Neonatal Candidiasis	25
399		MLL022	Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly	25
400		CRT028	Cor Triatriatum	25
401		PRP090	Peripheral Dysostosis	24
402		RDS004	Rud Syndrome	24
403		DPR014	Diprosopus	24
404	c	GLC054	Glaucoma 3, Primary Congenital, D	24
405		OST151	Osteoporosis and Oculocutaneous Hypopigmentation Syndrome	24
406		MMM002	Mammary-Digital-Nail Syndrome	24
407		ACL002	Acalvaria	24
408	c	TBH004	Teebi Hypertelorism Syndrome 2	24
409		OCL070	Oculopalatocerebral Syndrome	24
410	c	MCK037	Meckel Syndrome 14	24
411		5Q3002	5q31.3 Microdeletion Syndrome	24
412		CNG506	Congenital Amyoplasia	24
413	c	CNG616	Congenital Heart Defects, Multiple Types, 7	24
414		DST037	Distal Monosomy 9p	23
415		HYP212	Hypomandibular Faciocranial Dysostosis	23
416		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	23
417	c	MCR217	Microphthalmia, Syndromic 11	23
418	c	CMR006	Camurati-Engelmann Disease, Type 2	23
419	c	MCK036	Meckel Syndrome, Type 9	23
420		ORB019	Orbital Margin, Hypoplasia of	23
421	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	23
422	c	HYD041	Hydatidiform Mole, Recurrent, 2	23
423		6QT002	6q Terminal Deletion Syndrome	23
424		CNG357	Congenital Symblepharon	23
425		MSC089	Mosaic Monosomy X	22
426		HMH003	Hemihyperplasia-Multiple Lipomatosis Syndrome	22
427		MLP006	Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type	22
428		TRT015	Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia	22
429		OCL083	Oculogastrointestinal Neurodevelopmental Syndrome	22
430		PLY133	Polysyndactyly with Cardiac Malformation	22
431		2Q3005	2q31.1 Microdeletion Syndrome	22
432		INF021	Infant Gynecomastia	22
433		PTR028	Pterygia, Mental Retardation, and Distinctive Craniofacial Features	22
434	c	GLC089	Glaucoma 3, Primary Congenital, E	22
435		ATR018	Atrial Septal Defect Ostium Primum	21
436		ERM001	Ermine Phenotype	21
437		HYD053	Hydrocephalus with Associated Malformations	21
438		SPN117	Spinocerebellar Degeneration and Corneal Dystrophy	21
439		CRN224	Craniofaciofrontodigital Syndrome	21
440		MLT173	Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability	21
441		GRW034	Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction	21
442		LBR027	Laubry-Pezzi Syndrome	21
443		FBL018	Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities	21
444		MSC017	Mosaic Trisomy 22	21
445		MSC019	Mosaic Trisomy 7	21
446		CHR159	Charlie M Syndrome	20
447	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	20
448		SPN353	Spondylometaphyseal Dysplasia, X-Linked	20
449		DYR002	Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion	20
450	c	OCY005	Oocyte Maturation Defect 4	20
451		ART056	Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay	20
452	c	WRD034	Waardenburg Syndrome, Type 2f	20
453		ODN020	Odontoma-Dysphagia Syndrome	20
454		ECT085	Ectopia Cordis	20
455		DYS134	Dysspondyloenchondromatosis	20
456		MTR087	Maternal Uniparental Disomy	20
457	c	ACQ027	Acquired Cutis Laxa	20
458		DYS135	Dysphagia Lusoria	20
459		TRS011	Trisomy 2 Mosaicism	20
460		THK001	Thakker-Donnai Syndrome	20
461		GNC010	Genochondromatosis	20
462		SBP003	Subependymal Nodular Heterotopia	19
463	c	BRC053	Brachyolmia Type 2	19
464		CRN311	Coronary Ostial Stenosis or Atresia	19
465		ABS020	Absent Eyebrows and Eyelashes with Mental Retardation	19
466		PNH003	Pinheiro Freire-Maia Miranda Syndrome	19
467		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	19
468	c	LTB003	Ltbp4-Related Cutis Laxa	19
469	c	PST077	Posterior Meningocele	19
470	c	GLC032	Glaucoma, Hereditary	19
471		20Q003	20q11.2 Microdeletion Syndrome	19
472		DFN305	Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy	19
473		CLF047	Cleft-Limb-Heart Malformation Syndrome	19
474		PLY134	Polydactyly, Postaxial, with Dental and Vertebral Anomalies	19
475		20P002	20p13 Microdeletion Syndrome	19
476	P	MTR062	Maternal Uniparental Disomy of Chromosome 4	19
477		MYL044	Myelocystocele	19
478		GMS002	Gms Syndrome	19
479		DFN309	Deafness, Conductive, with Ptosis and Skeletal Anomalies	19
480		BRC094	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	19
481		CLD006	Cleidorhizomelic Syndrome	19
482		DST038	Distal Monosomy 7q36	18
483	c	ANG052	Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15	18
484	c	MTR051	Maternal Uniparental Disomy of Chromosome 1	18
485		HYP727	Hypoglossia with Situs Inversus	18
486	c	CNG385	Congenital Heart Defects, Multiple Types, 3	18
487		MSC079	Mosaic Trisomy 1	18
488		CLF034	Cleft Hard Palate	18
489		CNG347	Congenital Tricuspid Stenosis	18
490		DLT013	Deletion 5q35	18
491	c	FBL003	Fbln5-Related Cutis Laxa	18
492	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	18
493		RDL028	Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema	18
494		HYD049	Hydrocephalus with Cerebellar Agenesis	18
495		SPN120	Spondylocamptodactyly	18
496	c	RNG031	Ring Chromosome Y Syndrome	18
497		CNG586	Congenital Tricuspid Valve Dysplasia	18
498	P	CHR180	Chromosome 10, Uniparental Disomy	18
499		CHR188	Chromosome 11q Duplication	18
500		WHT005	White Forelock with Malformations	18
501	c	TTL008	Total Spina Bifida Cystica	18
502		CRV064	Cervicothoracic Spina Bifida Aperta	18
503	c	BSL030	Basal Encephalocele	18
504		FCL087	Facial Infiltrating Lipomatosis	18
505		9P1001	9p13 Microdeletion Syndrome	17
506		LRS009	Larsen-Like Syndrome, Lethal Type	17
507		PTR034	Paternal Uniparental Disomy	17
508		49X005	49, Xxxyy Syndrome	17
509		HYP479	Hyperinsulinism Due to Hnf4a Deficiency	17
510	c	MTR061	Maternal Uniparental Disomy of Chromosome 6	17
511		DST055	Distal 22q11.2 Microduplication Syndrome	17
512		MDL016	Midline Cervical Cleft	17
513		NNS113	Non-Syndromic Posterior Hypospadias	17
514		KMM002	Kommerell Diverticulum	17
515		8Q1001	8q12 Microduplication Syndrome	17
516		ISL118	Isolated Tracheoesophageal Fistula	17
517		5Q3001	5q35 Microduplication Syndrome	17
518		LVC001	Levic Stefanovic Nikolic Syndrome	17
519		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
520	c	PTR011	Paternal Uniparental Disomy of Chromosome 1	16
521		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	16
522		INT089	Intellectual Deficit - Short Stature - Hypertelorism	16
523		ADC008	Adactylia, Unilateral	16
524		SHN001	Shone Complex	16
525		DST079	Distal Trisomy 5q	16
526		XP2002	Xp22.13p22.2 Duplication Syndrome	16
527		6Q1002	6q16 Microdeletion Syndrome	16
528		PTS017	Ptosis, Strabismus, and Ectopic Pupils	16
529		SCR022	Sacral Meningocele Conotruncal Heart Defects	16
530		CNS012	Cono-Spondylar Dysplasia	16
531		DBL010	Double-Orifice Mitral Valve	16
532		CRY029	Cryptomicrotia-Brachydactyly Syndrome	16
533		20Q001	20q13.33 Microdeletion Syndrome	16
534		14Q005	14q24.1q24.3 Microdeletion Syndrome	16
535		ANP015	Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies	16
536		NND003	Non-Distal Trisomy 10q	16
537		WHB001	Wahab Syndrome	16
538		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	16
539		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	16
540		ERL037	Early-Onset Lamellar Cataract	16
541		NNS096	Non-Syndromic Anorectal Malformation	15
542		EXT038	Extrasystoles Short Stature Hyperpigmentation Microcephaly	15
543		CYS047	Cystic Fibrosis, Modifier of, 1	15
544		NND005	Non-Distal Trisomy 13q	15
545		MCR358	Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	15
546		KLL013	Kallmann Syndrome-Heart Disease Syndrome	15
547		10Q002	10q22.3q23.3 Microduplication Syndrome	15
548	c	ISC010	Isochromosome Yp	15
549	c	MTR060	Maternal Uniparental Disomy of Chromosome 9	15
550	c	ADL101	Adult-Onset Steinert Myotonic Dystrophy	15
551		ISL108	Isolated Splenogonadal Fusion	15
552		RCT033	Rectal Duplication	15
553		LPM011	Lip, Median Nodule of Upper	15
554		DST071	Distal Monosomy 19p13.3	14
555		MCR186	Microtriplication 11q24.1	14
556		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	14
557		ISL054	Isolated Congenitally Uncorrected Transposition of the Great Arteries	14
558	c	GLC052	Glaucoma 3, Primary Congenital, C	14
559	P	ANT062	Anterior Urethral Valve	14
560		SYN112	Syndromic Microphthalmia-Anophthalmia-Coloboma	14
561		MCR295	Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	14
562		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	14
563		MSC088	Mosaic Trisomy 5	14
564		MSC087	Mosaic Trisomy 4	14
565	c	ELN002	Eln-Related Cutis Laxa	14
566		ATX036	Ataxia-Photosensitivity-Short Stature Syndrome	14
567	c	LTH052	Lethal Recessive Chondrodysplasia	14
568		ANR041	Aniridia-Intellectual Disability Syndrome	13
569		PRT206	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9	13
570	c	EFM001	Efemp2-Related Cutis Laxa	13
571		URC012	Urachal Sinus	13
572		FRY005	Fryns Smeets Thiry Syndrome	13
573		SPN150	Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism	13
574		MND008	Mandibular Arteriovenous Malformation	13
575		CRN204	Craniofacial Conodysplasia	13
576	c	ORF005	Orofaciodigital Syndrome 12	13
577		CNG235	Congenital Microgastria	13
578		CRN194	Cranial Meningocele	13
579		TRN017	Transient Neonatal Neutropenia	13
580		4P1001	4p16.3 Microduplication Syndrome	13
581		SXC004	Sex Chromosome Disorder of Sex Development	13
582	c	ZYG006	Zygodactyly Type 2	13
583		INT300	Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	13
584		PRT162	Partial Deletion of the Short Arm of Chromosome 6	12
585		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	12
586		PST111	Posterior Fossa Malformation	12
587		ATL016	Atelencephaly	12
588	P	PRT183	Partial Monosomy of the Long Arm of Chromosome 10	12
589		LWR017	Lower Limb Malformation-Hypospadias Syndrome	12
590		LRY034	Laryngotracheal Angioma	12
591		MLT170	Multiple Congenital Anomalies/dysmorphic Syndrome	12
592		MCR184	Macrodactyly of Fingers	12
593		PRT178	Partial Deletion of the Long Arm of Chromosome 5	12
594		CRV060	Cervical Dermoid Cyst	12
595		SVR082	Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	12
596		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	12
597		AML036	Amelia of Lower Limb	12
598	c	HLL012	Hallermann-Streiff-Like Syndrome	12
599		INT396	Internal Carotid Absence	11
600	c	MLT172	Multiple Metaphyseal Dysplasia	11
601		DST090	Distal Trisomy 2p	11
602		PRT163	Partial Deletion of the Short Arm of Chromosome 5	11
603		CNG277	Congenital Pseudoarthrosis of the Fibula	11
604		NRL025	Neural Tube Closure Defect	11
605		ISL128	Isolated Microspherophakia	11
606		PRT144	Partial Deletion of Chromosome 2	11
607	c	PTR015	Paternal Uniparental Disomy of Chromosome X	11
608		CNG244	Congenital Laryngeal Cyst	11
609		CRN310	Cranial Malformation	11
610	c	UNP004	Uniparental Disomy of Chromosome 2	11
611		CNG575	Congenital Joint Dislocations	11
612		PRT153	Partial Deletion of Chromosome 11	11
613		PRT215	Partial Duplication of the Short Arm of Chromosome 2	11
614		XLN157	X-Linked Intellectual Disability, Porteous Type	11
615		XLN210	X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	11
616	c	CNG620	Congenital-Onset Steinert Myotonic Dystrophy	11
617		CNG318	Congenital Genu Recurvatum	11
618		DPL010	Duplication of the Esophagus	11
619		PRT152	Partial Deletion of Chromosome 10	10
620	c	ATS065	Autosomal Dominant Coarctation of Aorta	10
621		PRT185	Partial Deletion of the Long Arm of Chromosome 13	10
622		CNG272	Congenital Achiasma	10
623		PRT164	Partial Deletion of the Short Arm of Chromosome 8	10
624	c	PRT205	Partial Trisomy of the Long Arm of Chromosome 5	10
625	c	UNP007	Uniparental Disomy of Chromosome 6	10
626		PRT151	Partial Deletion of Chromosome 16	10
627		PRT204	Partial Duplication of the Long Arm of Chromosome 4	10
628		CNG517	Congenital Agenesis of the Scrotum	10
629		ATS453	Autosomal Anomaly	10
630		PRT187	Partial Duplication of Chromosome X	10
631		SYN155	Syndromic Anorectal Malformation	10
632		ACC010	Accessory Tricuspid Valve Tissue	10
633		PRT145	Partial Deletion of Chromosome 3	10
634		ART098	Aorto-Right Ventricular Tunnel	10
635		PRT228	Partial Duplication of Chromosome 1	10
636		PRS112	Persistent Eustachian Valve	10
637	c	ISC013	Isochromosomy Yq	10
638		2P2002	2p21 Microdeletion Syndrome Without Cystinuria	10
639		PRT159	Partial Deletion of the Short Arm of Chromosome 1	10
640		PRT230	Partial Duplication of Chromosome 3	9
641		ESP045	Esophageal Malformation	9
642		DST077	Distal Trisomy 22q	9
643		DST054	Distal 17p13.3 Microdeletion Syndrome	9
644		PRT208	Partial Duplication of the Short Arm of Chromosome 8	9
645		UPP009	Upper Limb Hypertrophy	9
646		OTM002	Otomandibular Dysplasia	9
647		PRT207	Partial Duplication of the Short Arm of Chromosome 7	9
648		CRN208	Coronary Sinus Atresia	9
649		BNL004	Benallegue Lacete Syndrome	9
650	c	UNP003	Uniparental Disomy of Chromosome 11	8
651		PRT154	Partial Deletion of Chromosome 18	8
652		DST075	Distal Trisomy 16q	8
653		TRS020	Tarsal Kink Syndrome	8
654		ARC019	Arachnodactyly - Intellectual Disability - Dysmorphism	8
655		PRT203	Partial Duplication of the Long Arm of Chromosome 7	8
656		DZX005	Diazoxide-Resistant Hyperinsulinism	8
657	P	PRT196	Partial Trisomy of the Long Arm of Chromosome 16	8
658		PRT177	Partial Deletion of the Long Arm of Chromosome 4	8
659		EN1001	En1-Related Dorsoventral Syndrome	8
660		DST067	Distal Monosomy 14q	8
661		URG006	Urogenital Tract Malformation	8
662		ISL049	Isolated Dandy-Walker Malformation Without Hydrocephalus	8
663		PRT143	Partial Deletion of Chromosome 5	8
664	P	PRT173	Partial Monosomy of the Short Arm of Chromosome 20	8
665		CMP057	Complete Cryptophthalmia	8
666		BPR001	Bipartite Talus	8
667		PRT181	Partial Deletion of the Long Arm of Chromosome 8	8
668		PRT209	Partial Duplication of the Short Arm of Chromosome 17	8
669		DST083	Distal Trisomy 9q	8
670		DST074	Distal Trisomy 20q	8
671		PRT198	Partial Duplication of the Long Arm of Chromosome 14	8
672	c	PTR020	Paternal Uniparental Disomy of Chromosome 20	8
673		PRT211	Partial Duplication of the Short Arm of Chromosome 11	8
674	P	TSS001	Tessier Number 5 Facial Cleft	8
675		DST058	Distal Monosomy 12p	8
676		DST073	Distal Monosomy 7p	8
677		HMR031	Humeral Agenesis/hypoplasia	8
678		PRT148	Partial Deletion of Chromosome 6	7
679	c	PRT190	Partial Trisomy of the Long Arm of Chromosome 18	7
680		PRT141	Partial Deletion of Chromosome 1	7
681		PRT175	Partial Deletion of the Long Arm of Chromosome 2	7
682		PRT244	Partial Deletion of the Short Arm of Chromosome 12	7
683		SPN435	Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia	7
684		3Q2005	3q26q27 Microdeletion Syndrome	7
685		LPT012	Leptomyelolipoma	7
686		ATY043	Atypical Norrie Disease Due to Xp11.3 Microdeletion	7
687		DST070	Distal Monosomy 4q	7
688		LNG112	Longitudinal Limb Defect	7
689		PRT212	Partial Duplication of the Short Arm of Chromosome 16	7
690		ISL106	Isolated Congenital Microcephaly	7
691		CHR512	Cheirospondyloenchondromatosis	7
692		NND007	Non-Distal Monosomy 12q	7
693	P	ISC012	Isochromosome Y	7
694		SPL072	Split Cord Malformation, Composite Type	6
695	P	CHR690	Chromosome Y Structural Anomaly	6
696		PRT158	Partial Deletion of the Short Arm of Chromosome 2	6
697		FRN038	Frontonasal Arteriovenous Malformation	6
698		PRT155	Partial Deletion of Chromosome 17	6
699		PRT172	Partial Deletion of the Short Arm of Chromosome 19	6
700	c	PRT188	Partial Trisomy of the Long Arm of Chromosome 20	6
701		PRT229	Partial Duplication of Chromosome 2	6
702		PRT245	Partial Deletion of Chromosome 12	6
703		CNG576	Congenital Deformities of Fingers	6
704		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	6
705		MLF005	Malformation Syndrome with Short Stature	6
706	c	LSS020	Lissencephaly with Cerebellar Hypoplasia Type B	6
707		NLX005	Neu-Laxova Syndrome Due to Phosphoserine Aminotransferase Deficiency	6
708		SPN437	Spondylodysplastic Dysplasia	6
709	c	DNS012	Donson-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum	6
710		DBL020	Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect	6
711		ENC035	Encircling Double Aortic Arch	6
712		SYN118	Syndrome with Limb Reduction Defects	6
713		SVR113	Severe Lateral Tibial Bowing-Short Stature-Mild Winged Scapula-Mild Facial Dysmorphism Syndrome	6
714		PRT240	Partial Deletion of the Long Arm of Chromosome 19	6
715	c	TSS003	Tessier Number 6 Facial Cleft	6
716		PHK010	Phakomatosis Spilorosea	6
717		MYB004	Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	6
718		CNT081	Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome	6
719		NSL027	Nasal Dorsum Fistula	6
720		PRT142	Partial Deletion of Chromosome 4	6
721		PRT253	Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia	6
722		CNG592	Congenital Aortic Valve Atresia	5
723		NNS143	Non-Syndromic Non-Specific Multisutural Craniosynostosis	5
724	c	CHR179	Chromosome 1, Uniparental Disomy 1q12 Q21	5
725		ABS021	Absence of Uterine Body	5
726		DZX003	Diazoxide-Resistant Diffuse Hyperinsulinism	5
727		UTR055	Uterine Cervical Aplasia and Agenesis	5
728		RDL020	Radio-Ulnar Synostosis, Bilateral	5
729		NNS147	Non-Syndromic Unilambdoid Craniosynostosis	5
730	c	PRM303	Primary Early-Onset Glaucoma	5
731	c	SCN083	Secondary Early-Onset Glaucoma	5
732		CDL007	Caudal Regression-Sirenomelia Spectrum	5
733		PRT109	Partially Involuting Congenital Hemangioma	5
734		LNS008	Lens Position Anomaly	5
735		ISL153	Isolated Congenital Aglossia	5
736		SBD003	Sbds-Related Severe Neonatal Spondylometaphyseal Dysplasia	5
737		SPG003	Spigelian Hernia-Cryptorchidism Syndrome	5
738		PRT156	Partial Deletion of Chromosome 20	5
739	c	PTR021	Paternal Uniparental Disomy of Chromosome 21	5
740		MDN006	Median Cleft of the Upper Lip and Maxilla	5
741		LWM001	Low Implantation of Placenta	5
742		ISL107	Isolated Congenital Syngnathia	5
743		PRT210	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18	5
744		PRT220	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5	5
745		MLT175	Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability	5
746		DPH029	Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome	5
747		PRT224	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12	5
748		PRT233	Partial Duplication of Chromosome 6	5
749		NNS046	Non-Syndromic Urogenital Tract Malformation	5
750		RDL019	Radio-Ulnar Synostosis, Unilateral	5
751		DBL013	Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect	5
752	c	GLC033	Glaucoma, Hereditary Adult Type 1a	5
753		NNS139	Non-Syndromic Bicoronal and Metopic Craniosynostosis	5
754		MTR068	Mitral Valve Agenesis	5
755		CNG601	Congenital Tricuspid Malformation	5
756	c	GLC035	Glaucoma, Primary Infantile Type 3a	5
757		ANM025	Anomaly of the Mitral Subvalvular Apparatus	5
758		ART160	Arterial Duct Anomaly	5
759		ISL046	Isolated Bilateral Hemispheric Cerebellar Hypoplasia	5
760	c	GLC029	Glaucoma Type 1c	5
761		CNG360	Congenital Unguarded Mitral Orifice	5
762	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	5
763	c	TTL013	Total Autosomal Trisomy	5
764		ERL042	Early-Onset Partial Cataract	5
765		NNT001	Neonatal Infective Mastitis	4
766		CNG606	Congenital Aortic Valve Dysplasia	4
767		PRT232	Partial Trisomy/tetrasomy of Chromosome 5	4
768		PRT214	Partial Trisomy/tetrasomy of Chromosome 18	4
769		MCR188	Macrodactyly of Fingers, Unilateral	4
770		MCR190	Macrodactyly of Toes, Unilateral	4
771		46X076	46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen	4
772		ATS455	Autosomal Uniparental Disomy	4
773		EPB005	Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome	4
774		PRT221	Partial Trisomy/tetrasomy of Chromosome 9	4
775		46X069	46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen	4
776		ENC071	Encephaloclastic Disorder	4
777		NNS110	Non-Syndromic Anorectal Malformation with Rectourethral Fistula, Prostatic Type	4
778		CNG341	Congenital Anomaly of the Coronary Sinus	4
779		TRC124	True Congenital Shoulder Dislocation	4
780		ISL051	Isolated Partial Cerebellar Vermis Agenesis	4
781		CNG361	Congenital Supravalvular Mitral Ring	4
782		PRX103	Preaxial Digit Brachydactyly-Webbed Fingers	4
783	c	ISL052	Isolated Total Cerebellar Vermis Agenesis	4
784	c	XND001	X and Y Chromosomal Anomaly	4
785		ASC011	Ascending Aorta Anomaly	4
786		MCR189	Macrodactyly of Toes, Bilateral	4
787		NNS107	Non-Syndromic Anorectal Malformation Without Fistula	4
788	c	CHR691	Chromosome X Structural Anomaly	4
789	c	SYN028	Syngnathia Multiple Anomalies	4
790		CNG315	Congenital Vertical Talus, Unilateral	4
791		CNG577	Congenital Deformities of Limbs	4
792	c	CHR201	Chromosome 16, Uniparental Disomy	3
793	c	CHR251	Chromosome 5, Uniparental Disomy	3
794		SYN166	Syndrome with a Dandy-Walker Malformation As a Major Feature	3
795		CRV059	Cervicofacial Fibrochondroma	3
796		NNS056	Non-Syndromic Complex Polydactyly	3
797		DYS206	Dysostosis with Brachydactyly with Extraskeletal Manifestations	3
798		DYS203	Dysostosis with Combined Reduction Defects of Upper and Lower Limbs	3
799		CLD020	Cleidocranial Dysplasia and Isolated Cranial Ossification Defect	3
800		46X064	46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors	3
801		HRT042	Heart Position Anomaly	3
802		PRL049	Paralytic Facial Malformation	3
803		CNG322	Congenital Elbow Dislocation, Unilateral	3
804		SXC006	Sex-Chromosome Structural Anomaly	3
805		NNS103	Non-Syndromic Anorectal Malformation with Rectal Stenosis	3
806		NNS065	Non-Syndromic Diaphragmatic or Abdominal Wall Malformation	3
807		CNG321	Congenital Elbow Dislocation, Bilateral	3
808		NNS100	Non-Syndromic Anorectal Malformation with Anal Stenosis	3
809		NNS066	Non-Syndromic Visceral Malformation	3
810	c	CHR232	Chromosome 21, Uniparental Disomy	3
811		SYN167	Syndrome with Microcephaly As a Major Feature	3
812		NNS106	Non-Syndromic Cloacal Malformation	2
813		NNS050	Non-Syndromic Urogenital Tract Malformation of Female	2
814		PLY186	Polysomy of X Chromosome	2
815		XCH001	X Chromosome Number Anomaly with Male Phenotype	2
816		EMB004	Embryonal Carcinoma	55
817	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	52
818	c	WLM018	Wilms Tumor 5	66
819		EMB006	Embryonal Testis Carcinoma	31
820	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	25
821	P	CNT003	Central Nervous System Embryonal Carcinoma	9
822	c	LYM145	Lymphatic Malformation 5	52
823	c	LYM144	Lymphatic Malformation 1	48
824	c	LYM161	Lymphatic Malformation 12	42
825	c	LYM150	Lymphatic Malformation 7	34
826	P	RRL003	Rare Lymphatic Malformation	31
827	c	LYM147	Lymphatic Malformation 3	24
828	c	LYM148	Lymphatic Malformation 4	24
829	c	LYM159	Lymphatic Malformation 10	21
830	c	LYM158	Lymphatic Malformation 9	19
831	c	LYM160	Lymphatic Malformation 11	17
832	c	LYM146	Lymphatic Malformation 2	16
833		OVR050	Ovarian Embryonal Carcinoma	34
834		CHL026	Childhood Ovarian Embryonal Carcinoma	8
835	c	WLM013	Wilms Tumor 1	68
836	P	PRS062	Persistent Hyperplastic Primary Vitreous	50
837		EMB015	Embryonal Tumor with Multilayered Rosettes	29
838	P	HRD009	Hereditary Wilms' Tumor	29
839	c	WLM011	Wilms Tumor 6	27
840	c	WLM005	Wilms Tumor 2	26
841		GRM001	Germ Cell and Embryonal Cancer	23
842	c	WLM017	Wilms Tumor 4	21
843	c	WLM015	Wilms Tumor 3	19
844	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	16
845	c	FML094	Familial Wilms Tumor 2	15
846	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	15
847		EMB001	Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma	6
848	c	RBN022	Robinow Syndrome, Autosomal Recessive 1	56
849	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	49
850		FTL012	Fetal and Neonatal Alloimmune Thrombocytopenia	47
851	c	RST025	Restrictive Dermopathy 1	42
852	P	BTR001	Botryoid Rhabdomyosarcoma	42
853		TRT001	Teratocarcinoma	39
854	P	RST003	Restrictive Dermopathy	36
855	c	RBN023	Robinow Syndrome, Autosomal Recessive 2	27
856	c	RST026	Restrictive Dermopathy 2	21
857	c	ADL031	Adult Botryoid Rhabdomyosarcoma	8
858	c	LTH007	Lethal Congenital Contracture Syndrome 1	53
859		GRM005	Germ Cell Cancer	45
860	c	LTH008	Lethal Congenital Contracture Syndrome 2	38
861	c	LTH026	Lethal Congenital Contracture Syndrome 4	36
862	c	LTH047	Lethal Congenital Contracture Syndrome 3	28
863	c	LTH029	Lethal Congenital Contracture Syndrome 9	26
864	c	LTH027	Lethal Congenital Contracture Syndrome 5	25
865	c	LTH039	Lethal Congenital Contracture Syndrome 11	25
866		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	22
867	c	LTH031	Lethal Congenital Contracture Syndrome 6	22
868	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	16
869		END020	Endocardial Fibroelastosis	57
870	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	35
871		SPR031	Sprengel Deformity	32
872	c	SYN073	Syngap1-Related Intellectual Disability	32
873		EMB007	Embryonal Sarcoma	23
874	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	19
875	c	HVP001	Hivep2-Related Intellectual Disability	18
876	c	BCL018	Bcl11a-Related Intellectual Disability	15
877		FTL048	Fetal Lung Interstitial Tumor	14
878	c	ATS403	Autosomal Dominant Intellectual Disability 40	14
879	c	ATS348	Autosomal Dominant Intellectual Disability 30	13
880	c	ATS360	Autosomal Recessive Intellectual Disability 58	13
881	P	FTL014	Fetal Brain Disruption Sequence	11
882		CHL030	Childhood Botryoid Rhabdomyosarcoma	11
883	P	RRN017	Rare Intellectual Disability	10
884	c	WCR002	Wac-Related Intellectual Disability	9
885	c	WDR002	Wdr26-Related Intellectual Disability	9
886	c	TRR002	Trio-Related Intellectual Disability	9
887	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
888		RRG014	Rare Genetic Developmental Defect During Embryogenesis	7
889	c	DDX001	Ddx3x-Related Intellectual Disability	4
890		EMB017	Embryonal Tumor of Neuroepithelial Tissue	4
891		NRL016	Neural Tube Defects	77
892		SCH036	Scheie Syndrome	75
893	P	JBR020	Joubert Syndrome 1	72
894	P	DYS007	Dyskeratosis Congenita	69
895	P	SHW006	Shwachman-Diamond Syndrome 1	68
896	P	CWD010	Cowden Syndrome	68
897	P	JVN014	Juvenile Polyposis Syndrome	68
898	P	PSD087	Pseudoxanthoma Elasticum	68
899	P	ALP004	Alport Syndrome	67
900	P	ART005	Arteriovenous Malformation	65
901	P	HRP006	Herpes Simplex	64
902	P	EHL001	Ehlers-Danlos Syndrome	64
903		KRN002	Kearns-Sayre Syndrome	63
904	P	RNL100	Renal Hypodysplasia/aplasia 1	63
905		WLL001	Williams-Beuren Syndrome	63
906	P	CMP005	Campomelic Dysplasia	62
907		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	62
908	P	NRB001	Neuroblastoma	62
909	P	SYP003	Syphilis	60
910		ESP020	Esophageal Atresia	59
911	c	OST122	Osteogenesis Imperfecta, Type Iii	59
912	P	MYR002	Mayer-Rokitansky-Kuster-Hauser Syndrome	59
913		MLN014	Melnick-Needles Syndrome	59
914	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	59
915	P	INT070	Intestinal Obstruction	58
916		PLM070	Pulmonic Stenosis	58
917		ANS023	Anus, Imperforate	58
918	c	STC015	Stickler Syndrome, Type I	57
919	P	WLF004	Wolfram Syndrome	57
920		DXT001	Dextrocardia	57
921		PRS055	Pierson Syndrome	57
922		BRN056	Bronchopulmonary Dysplasia	57
923	c	CTS045	Cutis Laxa, Autosomal Dominant 1	57
924	P	VNB005	Van Buchem Disease	56
925	c	INT072	Intestinal Pseudo-Obstruction	56
926		MCN007	Meconium Aspiration Syndrome	56
927	P	CLS054	Classic Ehlers-Danlos Syndrome	56
928	c	MCP046	Mucopolysaccharidosis, Type Iiid	55
929		CHR101	Char Syndrome	55
930		BLD129	Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	55
931	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	55
932		CCT002	Cicatricial Pemphigoid	55
933		MLL018	Miller-Dieker Lissencephaly Syndrome	55
934		LYM029	Lymphedema-Distichiasis Syndrome	54
935	c	LKD019	Leukodystrophy, Hypomyelinating, 6	53
936	P	FNG006	Feingold Syndrome 1	53
937	P	PTS002	Ptosis	53
938	P	PRR016	Pierre Robin Syndrome	53
939	c	USH035	Usher Syndrome Type 2	53
940	c	BRC079	Brachydactyly, Type A2	53
941	c	ART119	Arthrogryposis, Distal, Type 5	53
942	P	RCS002	Recessive Dystrophic Epidermolysis Bullosa	53
943	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	53
944		PST049	Postaxial Acrofacial Dysostosis	52
945	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	52
946		HMH004	Hemihyperplasia, Isolated	52
947		YNS002	Yunis-Varon Syndrome	52
948	P	MGC008	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	52
949		DNR002	Duane-Radial Ray Syndrome	52
950		JHN001	Johanson-Blizzard Syndrome	52
951	P	FRN012	Frontometaphyseal Dysplasia	52
952		MTC018	Metachondromatosis	52
953		MYL020	Myelomeningocele	52
954	c	ACH042	Achondrogenesis, Type Ib	52
955		WLF002	Wolf-Hirschhorn Syndrome	52
956	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	52
957		ABL002	Ablepharon-Macrostomia Syndrome	52
958		CKT002	Cakut	51
959	c	LKD010	Leukodystrophy, Hypomyelinating, 2	51
960		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	51
961	c	CNG513	Congenital Ptosis	51
962	P	BRC006	Brachydactyly	51
963		INT276	Interatrial Communication	51
964	c	LKD009	Leukodystrophy, Hypomyelinating, 5	50
965	P	MNN007	Meningocele	50
966		OHD005	Ohdo Syndrome, Sbbys Variant	50
967	P	ANX007	Anauxetic Dysplasia 1	50
968	P	MCL001	Mucolipidosis	50
969		PLY161	Polymicrogyria, Bilateral Perisylvian, X-Linked	50
970		NNT012	Neonatal Jaundice	50
971		SPN405	Spondyloepiphyseal Dysplasia Tarda, X-Linked	50
972	c	JBR004	Joubert Syndrome 2	50
973	P	APL006	Aplasia Cutis Congenita	49
974	P	FBR025	Fibrochondrogenesis	49
975	c	ACH033	Achondrogenesis, Type Ia	49
976	c	JBR012	Joubert Syndrome 5	48
977		CRN049	Craniolenticulosutural Dysplasia	48
978	c	EPD076	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	48
979		CHN065	Choanal Atresia, Posterior	48
980	c	JBR013	Joubert Syndrome 8	48
981	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	48
982		OGD001	Ogden Syndrome	48
983		MCR096	Macrocephaly/autism Syndrome	48
984	c	EPD071	Epidermolysis Bullosa Dystrophica, Autosomal Dominant	47
985	c	JBR025	Joubert Syndrome 17	47
986	c	LKD020	Leukodystrophy, Hypomyelinating, 10	47
987	c	CTR098	Cataract 1, Multiple Types	47
988		BLD130	Bladder Exstrophy	47
989	c	JBR024	Joubert Syndrome 14	47
990		DXT002	Dextrocardia with Situs Inversus	47
991	c	WRD031	Waardenburg Syndrome, Type 3	46
992	c	MCK030	Meckel Syndrome, Type 7	46
993		ECT026	Ectopic Pregnancy	46
994		AYM001	Ayme-Gripp Syndrome	46
995		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	46
996		VTR016	Vater/vacterl Association	46
997	P	GLP001	Geleophysic Dysplasia	46
998		ACR012	Aicardi Syndrome	46
999	c	JBR035	Joubert Syndrome 24	46
1000	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	46
1001	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	46
1002	c	JBR043	Joubert Syndrome 32	46
1003	c	JBR031	Joubert Syndrome 21	46
1004	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	46
1005		OLV004	Oliver-Mcfarlane Syndrome	46
1006	P	OVR076	Ovarian Dysgenesis 2	46
1007	c	FBR029	Fibrochondrogenesis 1	46
1008		CHR074	Choriocarcinoma	46
1009	P	OMP004	Omphalocele	45
1010	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	45
1011		END059	Endocrine-Cerebroosteodysplasia	45
1012	c	JBR022	Joubert Syndrome 20	45
1013		TRC026	Tracheal Disease	45
1014		MCN017	Meconium Ileus	45
1015	c	JBR011	Joubert Syndrome 7	45
1016		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	45
1017	c	CTR182	Cataract 23, Multiple Types	44
1018		WLL012	Williams-Beuren Region Duplication Syndrome	44
1019		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	44
1020		PLC007	Placental Abruption	44
1021	c	JBR026	Joubert Syndrome 15	44
1022	c	JBR042	Joubert Syndrome 23	44
1023	c	GLP003	Geleophysic Dysplasia 1	43
1024	c	JBR016	Joubert Syndrome 10	43
1025	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	43
1026	c	CTR130	Cataract 9, Multiple Types	43
1027	c	LSS009	Lissencephaly 3	43
1028		LYM094	Lymphedema, Primary, with Myelodysplasia	43
1029		CHR211	Chromosome 18p Deletion Syndrome	43
1030	c	ACR126	Acromesomelic Dysplasia 2c	42
1031	c	LKD023	Leukodystrophy, Hypomyelinating, 12	42
1032	c	ALP105	Alport Syndrome 2, Autosomal Recessive	42
1033	c	ALP104	Alport Syndrome 3, Autosomal Dominant	42
1034	P	OVR082	Overgrowth Syndrome	42
1035	c	CNG033	Congenital Syphilis	42
1036	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	42
1037		CHR523	Chromosome 15q11.2 Deletion Syndrome	42
1038		DPH019	Diaphanospondylodysostosis	42
1039		PLY100	Polyploidy	42
1040		CMP035	Complete Atrioventricular Canal	42
1041	c	ACR127	Acromesomelic Dysplasia 2b	41
1042		MDL009	Medullary Sponge Kidney	41
1043		HMC030	Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency	41
1044	c	LKD015	Leukodystrophy, Hypomyelinating, 3	41
1045	c	GLP004	Geleophysic Dysplasia 2	41
1046	P	RDL002	Radioulnar Synostosis	41
1047	c	NRB010	Neuroblastoma 1	41
1048		IFP002	Ifap Syndrome 1, with or Without Bresheck Syndrome	41
1049	c	LKD016	Leukodystrophy, Hypomyelinating, 9	41
1050		VND005	Van Den Ende-Gupta Syndrome	41
1051	c	FRN049	Frontometaphyseal Dysplasia 1	41
1052	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	41
1053		CHL073	Cholestasis-Lymphedema Syndrome	41
1054	P	BRT062	Bartsocas-Papas Syndrome 1	40
1055		ARC008	Auriculo-Condylar Syndrome	40
1056		PLY110	Polymicrogyria, Bilateral Temporooccipital	40
1057	c	JBR015	Joubert Syndrome 6	40
1058		FRY002	Fryns Syndrome	40
1059		NGL001	Naegeli-Franceschetti-Jadassohn Syndrome	40
1060	c	JBR030	Joubert Syndrome 22	40
1061		CHR590	Chromosome 15q11-Q13 Duplication Syndrome	40
1062	c	ORF038	Orofaciodigital Syndrome Iii	40
1063	c	OVR075	Ovarian Dysgenesis 1	40
1064	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	40
1065		NNN033	Noonan Syndrome and Noonan-Related Syndrome	40
1066	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	39
1067		EPD117	Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous	39
1068		ISL121	Isolated Split Hand-Split Foot Malformation	39
1069		DST008	Diastematomyelia	39
1070		SPN358	Spondyloepimetaphyseal Dysplasia, X-Linked	39
1071	c	APL023	Aplasia Cutis Congenita, Nonsyndromic	39
1072	P	LTH003	Lethal Congenital Contracture Syndrome	39
1073	c	FBR030	Fibrochondrogenesis 2	39
1074	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	39
1075	c	CRT070	Cortical Dysplasia, Complex, with Other Brain Malformations 1	39
1076		PYL017	Pyle Disease	39
1077	c	JBR028	Joubert Syndrome 13	39
1078	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	39
1079	c	JBR037	Joubert Syndrome 26	39
1080		ATY022	Atypical Coarctation of Aorta	39
1081	c	JBR027	Joubert Syndrome 16	39
1082	c	LKD008	Leukodystrophy, Hypomyelinating, 4	39
1083		THR017	Thoracoabdominal Syndrome	39
1084	P	SNG014	Singleton-Merten Syndrome	39
1085	c	PK3004	Pik3ca-Related Overgrowth Spectrum	38
1086	c	DNT021	Dent Disease 2	38
1087	c	LKD022	Leukodystrophy, Hypomyelinating, 13	38
1088	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	38
1089	P	NNP021	Nanophthalmos	38
1090		MLC004	Mulchandani-Bhoj-Conlin Syndrome	38
1091	c	RNL092	Renal-Hepatic-Pancreatic Dysplasia 1	37
1092		CHR225	Chromosome 1q21.1 Duplication Syndrome	37
1093	c	LKD021	Leukodystrophy, Hypomyelinating, 11	37
1094	P	RNL059	Renal-Hepatic-Pancreatic Dysplasia	37
1095	c	JBR036	Joubert Syndrome 25	37
1096	c	BRC062	Brachydactyly, Type D	37
1097		MHR002	Mohr Syndrome	37
1098	c	GLP007	Geleophysic Dysplasia 3	37
1099	c	JBR021	Joubert Syndrome 18	37
1100	c	SCN006	Secondary Syphilis	37
1101		ODN009	Odontoonychodermal Dysplasia	37
1102	P	CNG041	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	36
1103	P	SCL047	Sclerocornea	36
1104	c	JBR040	Joubert Syndrome 30	36
1105	c	FRN048	Frontometaphyseal Dysplasia 2	36
1106		RBN014	Robin Sequence with Cleft Mandible and Limb Anomalies	36
1107	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	36
1108	c	DVL097	Developmental and Epileptic Encephalopathy 73	36
1109		CYS021	Cystic Adenomatoid Malformation of Lung	36
1110	P	CRN074	Coronary Artery Aneurysm	36
1111	P	HYP700	Hypomyelinating Leukodystrophy	36
1112		ISL109	Isolated Cleft Lip	36
1113	c	46X057	46,xy Sex Reversal 8	35
1114		STL007	Steel Syndrome	35
1115		HYD048	Hydrocephalus with Stenosis of the Aqueduct of Sylvius	35
1116	c	WLL040	Weill-Marchesani Syndrome 4	35
1117	c	BRC075	Brachydactyly, Type A1, C	35
1118		NVL003	Nivelon-Nivelon-Mabille Syndrome	35
1119		ABR009	Abruzzo-Erickson Syndrome	35
1120	c	SYN084	Synpolydactyly 1	35
1121	c	JBR045	Joubert Syndrome 33	35
1122	c	DFN147	Deafness, X-Linked 4	35
1123		OSB001	Osebold-Remondini Syndrome	35
1124		ANM001	Anemia of Prematurity	35
1125		ICH066	Ichthyosis--Cheek--Eyebrow Syndrome	34
1126	c	DFN194	Deafness, X-Linked 1	34
1127	c	BRC060	Brachydactyly, Type E2	34
1128		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	34
1129	c	JBR014	Joubert Syndrome 9	34
1130	c	XLN004	X-Linked Nonsyndromic Deafness	34
1131	c	CNG100	Congenital Herpes Simplex	34
1132	P	ACR072	Acrorenal Syndrome	34
1133	c	LYM149	Lymphatic Malformation 6	34
1134	c	ANX008	Anauxetic Dysplasia 2	34
1135		LSC003	Luscan-Lumish Syndrome	33
1136	c	BRC099	Brachydactyly, Type A4	33
1137		BRN055	Bronchogenic Cyst	33
1138	c	CLR090	Ciliary Dyskinesia, Primary, 22	33
1139	P	OTP008	Otopalatodigital Syndrome Spectrum Disorder	33
1140	c	SNG011	Singleton-Merten Syndrome 1	33
1141		PRG023	Progeroid Short Stature with Pigmented Nevi	33
1142		PSD030	Pseudodiastrophic Dysplasia	33
1143		LRY047	Laryngeal Abductor Paralysis	33
1144	c	BRC047	Bruck Syndrome 1	33
1145		HRD037	Hardikar Syndrome	33
1146	c	CRT074	Cortical Dysplasia, Complex, with Other Brain Malformations 6	33
1147	c	CRT067	Cortical Dysplasia, Complex, with Other Brain Malformations 2	33
1148		SCH055	Schilbach-Rott Syndrome	32
1149		OHD003	Ohdo Syndrome, X-Linked	32
1150	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	32
1151	c	DFN370	Deafness, X-Linked 7	32
1152	c	DFN276	Deafness, X-Linked 6	32
1153	c	NRB015	Neuroblastoma 2	32
1154		RFM002	Roifman-Chitayat Syndrome	32
1155		RPD006	Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	32
1156		TTR012	Tetrasomy 9p	32
1157	c	BRC105	Brachydactyly, Type A1, D	32
1158	c	PRM022	Primary Syphilis	32
1159		LMB010	Lambert Syndrome	31
1160	c	CTR124	Cataract 10, Multiple Types	31
1161	c	CNG514	Congenital Radioulnar Synostosis	31
1162		12Q002	12q14 Microdeletion Syndrome	31
1163	c	LTC001	Late Congenital Syphilis	31
1164		ANR010	Aneurysm of Sinus of Valsalva	31
1165		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	31
1166		EMP011	Emphysema, Congenital Lobar	31
1167	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	31
1168		TTR014	Tetrasomy 18p	31
1169		MTC100	Metacarpal 4-5 Fusion	31
1170	P	PRC050	Pericardium Disease	31
1171		CHR265	Chromosome 8p Duplication	30
1172		PRX085	Preaxial Hallucal Polydactyly	30
1173		UVL009	Uvula, Bifid	30
1174	P	CRN249	Cornea Plana	30
1175	c	JBR039	Joubert Syndrome 28	30
1176	c	CHR227	Chromosome 20 Trisomy	30
1177		MCR067	Microcoria, Congenital	30
1178		SVR061	Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	30
1179	c	DNC007	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	30
1180	c	JVN034	Juvenile Polyposis of Infancy	30
1181		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	30
1182	c	FNG009	Feingold Syndrome 2	30
1183		MSM004	Mesomelia-Synostoses Syndrome	30
1184		NSL017	Nasolacrimal Duct Cyst	29
1185	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	29
1186	c	BRC108	Brachydactyly, Type A3	29
1187		HYP728	Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia	29
1188		RCM003	Recombinant Chromosome 8 Syndrome	29
1189		RHM015	Rhombencephalosynapsis	29
1190	c	RNG022	Ring Chromosome 6	29
1191		CHR483	Chromosome 3q13.31 Deletion Syndrome	29
1192		PNL023	Penile Agenesis	29
1193	P	TRS029	Trisomy 1q	29
1194	c	RNG007	Ring Chromosome 12	29
1195	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	29
1196		CHR182	Chromosome 10p Duplication	29
1197	c	NRB014	Neuroblastoma 3	28
1198	c	DFN146	Deafness, X-Linked 3	28
1199		CHR586	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb	28
1200		49X004	49,xyyyy Syndrome	28
1201		CHR621	Chromosome 16p11.2 Deletion Syndrome, 593-Kb	28
1202		SYS006	Say Syndrome	28
1203		CRN272	Craniometadiaphyseal Dysplasia	28
1204	c	SHW007	Shwachman-Diamond Syndrome 2	28
1205		NSY001	N Syndrome	28
1206		EXT062	Extracranial Carotid Artery Aneurysm	28
1207	c	ERL002	Early Congenital Syphilis	28
1208		CHR212	Chromosome 18p Duplication	28
1209	c	LKD028	Leukodystrophy, Hypomyelinating, 15	28
1210		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	28
1211	c	LKD030	Leukodystrophy, Hypomyelinating, 17	28
1212		HYP180	Hypertrichosis Lanuginosa Congenita	28
1213		ACR102	Acrorenal-Mandibular Syndrome	28
1214		CHR369	Chromosome Xq28 Duplication Syndrome	27
1215		FTL064	Fetal Methylmercury Syndrome	27
1216		CHR010	Chorioangioma	27
1217		ISL011	Isolated Aniridia	27
1218	c	ART131	Arthrogryposis, Distal, Type 4	27
1219		ORF053	Orofacial Clefting Syndrome	27
1220	P	PST016	Posterior Polar Cataract	27
1221	c	JBR044	Joubert Syndrome 31	27
1222		CLN022	Colonic Atresia	27
1223	P	RNG032	Ring Chromosome	27
1224		SHR097	Short Tarsus with Absence of Lower Eyelashes	27
1225	c	RNL095	Renal-Hepatic-Pancreatic Dysplasia 2	27
1226		KYP002	Kyphomelic Dysplasia	27
1227		PRT131	Partial Trisomy Distal 4q	27
1228		ATR055	Atrial Septal Aneurysm	27
1229		PRT043	Parietal Foramina with Cleidocranial Dysplasia	27
1230	c	CRT068	Cortical Dysplasia, Complex, with Other Brain Malformations 3	26
1231	c	CTR116	Cataract 15, Multiple Types	26
1232	c	MCK026	Meckel Syndrome 12	26
1233	c	LKD027	Leukodystrophy, Hypomyelinating, 14	26
1234		HYP490	Hyperinsulinism Due to Hnf1a Deficiency	26
1235	c	LKD031	Leukodystrophy, Hypomyelinating, 18	26
1236	c	OCY003	Oocyte Maturation Defect 1	26
1237	c	JBR049	Joubert Syndrome 37	26
1238		NVR001	Nievergelt Syndrome	26
1239	c	RDL040	Radioulnar Synostosis, Nonsyndromic	26
1240	P	ADD006	Adducted Thumbs Syndrome	26
1241	c	CRT073	Cortical Dysplasia, Complex, with Other Brain Malformations 5	25
1242	c	MGC012	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	25
1243	c	LTH032	Lethal Congenital Contracture Syndrome 7	25
1244		46X054	46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs	25
1245	c	NNP011	Nanophthalmos 2	25
1246	c	LKD029	Leukodystrophy, Hypomyelinating, 16	25
1247		CHR241	Chromosome 2q24 Microdeletion Syndrome	25
1248	c	CRN280	Cornea Plana 2, Autosomal Recessive	25
1249		NNS133	Non-Syndromic Metopic Craniosynostosis	25
1250		ATR017	Atrial Septal Defect Coronary Sinus	25
1251		MCD002	Mcdonough Syndrome	25
1252		LRY046	Laryngeal Web, Familial	25
1253	c	ANX011	Anauxetic Dysplasia 3	25
1254		8PN001	8p Inverted Duplication/deletion Syndrome	25
1255		DRM041	Dermoid Cysts, Familial Frontonasal	25
1256	c	INT407	Intellectual Developmental Disorder, X-Linked, Syndromic 11	25
1257	P	OCY002	Oocyte Maturation Defect 2	25
1258		MCR309	Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia	25
1259	c	OVR107	Ovarian Dysgenesis 4	25
1260	c	ACR105	Acrofrontofacionasal Dysostosis 2	24
1261	c	NNP012	Nanophthalmos 4	24
1262	c	LTH030	Lethal Congenital Contracture Syndrome 8	24
1263	c	MGC009	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	24
1264	c	CRT089	Cortical Dysplasia, Complex, with Other Brain Malformations 10	24
1265	c	MNS008	Monosomy 21	24
1266	c	JBR047	Joubert Syndrome 35	24
1267	P	PHC014	Phocomelia	24
1268		AML065	Amelia	24
1269	c	JBR038	Joubert Syndrome 27	24
1270		CHR555	Chromosome 3p- Syndrome	24
1271		ATR019	Atrial Septal Defect Sinus Venosus	24
1272		BLP009	Blepharonasofacial Malformation Syndrome	24
1273		16P003	16p13.11 Microdeletion Syndrome	24
1274		NRF010	Neurofaciodigitorenal Syndrome	24
1275	c	RNG006	Ring Chromosome 11	24
1276		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	24
1277		SYM024	Symphalangism, Distal	24
1278	c	SNG012	Singleton-Merten Syndrome 2	24
1279		ART166	Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum	24
1280	c	DKP001	Dk Phocomelia Syndrome	24
1281		LLS001	Lelis Syndrome	24
1282	c	JBR050	Joubert Syndrome 38	24
1283	c	DNC008	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	24
1284		CMB063	Combined Oxidative Phosphorylation Deficiency 25	24
1285	c	LKD032	Leukodystrophy, Hypomyelinating, 19, Transient Infantile	23
1286	c	RNG015	Ring Chromosome 2	23
1287		NNT021	Neonatal Meningitis	23
1288	c	CTR136	Cataract 41	23
1289		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	23
1290		SCH031	Scholte Syndrome	23
1291		IST006	Isotretinoin Syndrome	23
1292		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	23
1293	c	LKD035	Leukodystrophy, Hypomyelinating, 22	23
1294		STR088	Stratton-Parker Syndrome	23
1295	c	JBR048	Joubert Syndrome 36	23
1296	c	RNG019	Ring Chromosome 3	23
1297		CRB144	Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	23
1298		UTR054	Uterine Hypoplasia	23
1299		MTR027	Mitral Atresia	23
1300	c	BRT063	Bartsocas-Papas Syndrome 2	23
1301		CMP039	Camptodactyly 1	23
1302		HMM005	Hemimelia	23
1303		CHR612	Chromosome 15q14 Deletion Syndrome	23
1304	c	CRT071	Cortical Dysplasia, Complex, with Other Brain Malformations 4	23
1305	c	JBR051	Joubert Syndrome 39	23
1306		VRR008	Verrucous Hemangioma	22
1307		CRN156	Craniofacioskeletal Syndrome	22
1308	P	CMP082	Complex Cortical Dysplasia with Other Brain Malformations	22
1309		SPT023	Septate Uterus	22
1310	c	OCY004	Oocyte Maturation Defect 3	22
1311	c	CRT087	Cortical Dysplasia, Complex, with Other Brain Malformations 9	22
1312	c	MNS011	Monosomy 9q22.3	22
1313		ULN014	Ulnar Hemimelia	22
1314		CHR610	Chromosome 10q22.3-Q23.2 Deletion Syndrome	22
1315	P	YLN003	Y-Linked Deafness	22
1316	c	JBR052	Joubert Syndrome 40	22
1317		MCR274	Microcephalic Primordial Dwarfism, Montreal Type	22
1318		ULN005	Ulna and Fibula, Hypoplasia of	22
1319	c	MGC011	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	22
1320		PCM001	Pacman Dysplasia	22
1321	c	TRS012	Trisomy 22	22
1322		DBL007	Double Outlet Left Ventricle	22
1323		DST045	Distal Trisomy 6p	22
1324	c	OVR102	Ovarian Dysgenesis 3	22
1325		CNG009	Congenital Aortic Valve Stenosis	22
1326	c	OVR119	Ovarian Dysgenesis 7	22
1327		ERY043	Euryblepharon	22
1328		CHR507	Chromosome Xq27.3-Q28 Duplication Syndrome	22
1329	c	LKD033	Leukodystrophy, Hypomyelinating, 20	21
1330	P	PTR018	Paternal Uniparental Disomy of Chromosome 6	21
1331	P	CNG070	Congenital Dislocation of the Patella	21
1332		9Q3002	9q33.3q34.11 Microdeletion Syndrome	21
1333	c	LKD034	Leukodystrophy, Hypomyelinating, 21	21
1334		SMM003	Summitt Syndrome	21
1335		FCD002	Faciodigitogenital Syndrome, Autosomal Recessive	21
1336		DST059	Distal Trisomy 17q	21
1337	c	LYM155	Lymphatic Malformation 8	21
1338		DST044	Distal Trisomy 14q	21
1339	c	NNP017	Nanophthalmos 1	21
1340		PRR029	Pierre Robin Syndrome and Oligodactyly	21
1341		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	21
1342		PHS030	Phosphoribosylaminoimidazole Carboxylase Deficiency	21
1343		EHL036	Ehlers-Danlos/osteogenesis Imperfecta Syndrome	21
1344		1Q4001	1q44 Microdeletion Syndrome	21
1345		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	21
1346	c	RNL099	Renal Hypodysplasia/aplasia 2	21
1347		CRN308	Coronary Arterial Fistula	21
1348		LVC002	Levocardia	21
1349	c	BRC080	Brachydactyly, Type A1, B	21
1350	c	OVR127	Ovarian Dysgenesis 9	21
1351		EDN001	Edinburgh Malformation Syndrome	20
1352		1QD001	1q Duplications	20
1353	P	DNC006	Diencephalic-Mesencephalic Junction Dysplasia	20
1354		19P001	19p13.12 Microdeletion Syndrome	20
1355	P	ERL043	Early-Onset Nuclear Cataract	20
1356	c	OVR115	Ovarian Dysgenesis 5	20
1357		CNT104	Contractures, Congenital, Torticollis, and Malignant Hyperthermia	20
1358	c	ANG053	Angelman Syndrome Due to Maternal 15q11q13 Deletion	20
1359		MNS012	Monostotic Fibrous Dysplasia	20
1360	c	LKD037	Leukodystrophy, Hypomyelinating, 24	20
1361		8P1001	8p11.2 Deletion Syndrome	20
1362	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	20
1363		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	20
1364		PLY088	Polyvalvular Heart Disease Syndrome	20
1365		FTL058	Fetal Trimethadione Syndrome	20
1366		17Q012	17q24.2 Microdeletion Syndrome	20
1367		BMR004	Beemer Lethal Malformation Syndrome	20
1368		OCL057	Oculotrichodysplasia	20
1369		MCR317	Macrophthalmia, Colobomatous, with Microcornea	20
1370		CNG101	Congenital Human Immunodeficiency Virus	20
1371		SVR009	Seaver Cassidy Syndrome	20
1372	c	RNG011	Ring Chromosome 16	19
1373		NSL020	Nasal Glial Heterotopia	19
1374	c	OVR120	Ovarian Dysgenesis 8	19
1375	c	MGC010	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	19
1376	c	ADD007	Adducted Thumbs, Congenital	19
1377	c	CRN279	Cornea Plana 1, Autosomal Dominant	19
1378		GTR012	Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies	19
1379	c	ATS454	Autosomal Trisomy	19
1380		ANG057	Angioosteohypotrophic Syndrome	19
1381		KNS006	Kniest-Like Dysplasia, Lethal	19
1382		BLT023	Bilateral Acute Depigmentation of the Iris	19
1383		CRV062	Cervical Spina Bifida Cystica	19
1384		OST047	Osteopenia and Sparse Hair	19
1385		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	19
1386		ART113	Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability	19
1387		MLN018	Moloney Syndrome	19
1388	c	DFN372	Deafness, Y-Linked 2	19
1389		FRY007	Fryns Macrocephaly	19
1390		SKL031	Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	19
1391	P	ATS469	Autosomal Monosomy	19
1392		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	19
1393		SXC007	Sex-Chromosome Anomaly	18
1394	c	OVR118	Ovarian Dysgenesis 6	18
1395	c	PRG093	Pregnancy Loss, Recurrent 3	18
1396	c	PTS018	Ptosis, Hereditary Congenital 1	18
1397		LMB056	Lumbosacral Spina Bifida Cystica	18
1398		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	18
1399	c	OCY006	Oocyte Maturation Defect 5	18
1400		TTR021	Tetrasomy 21	18
1401		HYD051	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis	18
1402		PLY132	Polysyndactyly, Crossed	18
1403		3Q2006	3q27.3 Microdeletion Syndrome	18
1404		PTN009	Patent Urachus	18
1405	c	MTR063	Maternal Uniparental Disomy of Chromosome 2	18
1406		DST069	Distal Monosomy 12q	18
1407		HRS037	Hirschsprung Disease with Type D Brachydactyly	18
1408		TRN013	Transient Neonatal Thrombocytopenia	18
1409		BRC096	Brachydactyly-Distal Symphalangism Syndrome	18
1410	c	OCY007	Oocyte Maturation Defect 6	18
1411		MSC086	Mesocardia	18
1412		HLL011	Hall-Riggs Syndrome	18
1413		SPR065	Supernumerary Nostril	18
1414	c	RNL129	Renal Hypodysplasia/aplasia 4	18
1415	c	OVR128	Ovarian Dysgenesis 10	18
1416		UPP007	Upper Thoracic Spina Bifida Cystica	18
1417		UPP008	Upper Thoracic Spina Bifida Aperta	18
1418		CNG240	Congenital Unilateral Hypoplasia of Depressor Anguli Oris	18
1419	c	OMP009	Omphalocele, Autosomal	18
1420		ULN021	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	18
1421		DYS128	Dysplasia of Head of Femur, Meyer Type	18
1422		HYP689	Hypomelia with Mullerian Duct Anomalies	18
1423		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	18
1424		AMN013	Aminopterin/methotrexate Embryofetopathy	18
1425		PRM238	Primary Intralymphatic Angioendothelioma	17
1426		20P001	20p12.3 Microdeletion Syndrome	17
1427		CNG284	Congenital Pseudoarthrosis of the Tibia	17
1428		MSC080	Mosaic Trisomy 12	17
1429		MSC078	Mosaic Trisomy 17	17
1430		SYN116	Syndromic Obesity	17
1431	c	DFN186	Deafness, Y-Linked 1	17
1432	c	SM1001	Sim1-Related Prader-Willi-Like Syndrome	17
1433		CMP097	Complex Chromosomal Rearrangement	17
1434		11Q001	11q22.2q22.3 Microdeletion Syndrome	17
1435	c	PRG096	Pregnancy Loss, Recurrent 2	17
1436		6P2001	6p22 Microdeletion Syndrome	17
1437		TYS007	Tyshchenko Syndrome	17
1438		DST035	Distal Trisomy 18q	17
1439	c	OCY008	Oocyte Maturation Defect 7	17
1440		RDL031	Radial Aplasia, X-Linked	17
1441		HMF003	Hemifacial Myohyperplasia	17
1442		16P005	16p11.2p12.2 Microduplication Syndrome	17
1443	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	17
1444	c	BRC037	Brachydactyly Type A7	17
1445		NNS132	Non-Syndromic Craniosynostosis	17
1446		EPP005	Epiphyseal Dysplasia Hearing Loss Dysmorphism	17
1447		ODN021	Odontotrichoungual-Digital-Palmar Syndrome	16
1448	c	ERL044	Early-Onset Posterior Polar Cataract	16
1449		PLM065	Pulmonary Supravalvular Stenosis	16
1450	c	CNG433	Congenital Cornea Plana	16
1451		1P2001	1p21.3 Microdeletion Syndrome	16
1452		HYP497	Hyperphalangy	16
1453		ALB022	Albinism-Microcephaly-Digital Anomalies Syndrome	16
1454	c	OCY013	Oocyte Maturation Defect 12	16
1455		DRM038	Dermotrichic Syndrome	16
1456	c	OCY010	Oocyte Maturation Defect 9	16
1457		DDL001	Didelphys Uterus	16
1458		DSP003	Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	16
1459		SBP005	Subpulmonary Stenosis	16
1460		OLV003	Olivopontocerebellar Atrophy Deafness	16
1461	c	OCY009	Oocyte Maturation Defect 8	16
1462		INT226	Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	16
1463		HYP494	Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	16
1464		FRN047	Frontonasal Dysplasia with Alar Clefts	16
1465	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	16
1466		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	16
1467		CNG067	Congenital Cystic Eye	16
1468		XSM001	X Small Rings	16
1469		ESP040	Esophageal Duplication Cyst	16
1470		ISL120	Isolated Cerebellar Agenesis	16
1471	c	PTS010	Ptosis, Hereditary Congenital 2	16
1472		PST104	Postaxial Oligodactyly, Tetramelic	15
1473		PLT010	Pili Torti Onychodysplasia	15
1474		DFN014	Deafness Nephritis Anorectal Malformation	15
1475		9Q2003	9q21.13 Microdeletion Syndrome	15
1476		CNT114	Central Nervous System Malformation	15
1477		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	15
1478		MCR242	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	15
1479		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	15
1480		ACH028	Acheiria	15
1481		PRS111	Persistent Fifth Aortic Arch	15
1482		HYP671	Hypomyelination Neuropathy-Arthrogryposis Syndrome	15
1483		GND006	Gonadal Dysgenesis Xy Type Associated Anomalies	15
1484		APR008	Aprosencephaly and Cerebellar Dysgenesis	15
1485	c	OCY011	Oocyte Maturation Defect 10	15
1486		FTL024	Fetal Minoxidil Syndrome	15
1487		PRT165	Partial Deletion of the Short Arm of Chromosome 7	15
1488		LNG081	Longitudinal Vaginal Septum	15
1489		BRN122	Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	15
1490		FML224	Familial Idiopathic Dilatation of the Right Atrium	15
1491		XYL001	Xylt1-Cdg	15
1492		PRX083	Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	15
1493	c	NRB012	Neuroblastoma 5	15
1494		XQ1001	Xq12-Q13.3 Duplication Syndrome	15
1495		AML037	Amelia of Upper Limb	14
1496		CRB211	Cerebral Cortical Dysplasia	14
1497		NDL022	Nodular Neuronal Heterotopia	14
1498		FRT004	Fourth Branchial Cleft Anomaly	14
1499		TRC112	Trochlea of the Humerus, Aplasia of	14
1500		20Q002	20q11.2 Microduplication Syndrome	14
1501		MSC084	Mosaic Genome-Wide Paternal Uniparental Disomy	14
1502		JXT004	Juxtaposition of the Atrial Appendages	14
1503		ISC019	Ischiovertebral Syndrome	14
1504	c	NRB016	Neuroblastoma 7	14
1505		SBM006	Submucosal Cleft Palate	14
1506		CCN010	Cocaine Embryofetopathy	14
1507		CLB032	Coloboma of Macula and Skeletal Anomalies	14
1508		CHN047	Chondroectodermal Dysplasia with Night Blindness	14
1509		DST052	Distal 7q11.23 Microduplication Syndrome	14
1510		LTR017	Lateral Facial Cleft	14
1511	P	LTH050	Lethal Chondrodysplasia	14
1512		MTR084	Maternal Hyperthermia-Induced Birth Defects	14
1513		CRB061	Cerebellar Hypoplasia Tapetoretinal Degeneration	14
1514	P	LRY049	Laryngotracheoesophageal Cleft Type 4	14
1515	c	ACQ026	Acquired Pseudoxanthoma Elasticum	14
1516		9Q3001	9q31.1q31.3 Microdeletion Syndrome	14
1517		14Q003	14q11.2 Microduplication Syndrome	14
1518		INT305	Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	14
1519		FRS008	Froster-Huch Syndrome	14
1520	P	CNG396	Congenital Pulmonary Airway Malformation Type 2	14
1521		ANN018	Anonychia, Total, with Microcephaly	14
1522	c	MTR057	Maternal Uniparental Disomy of Chromosome X	14
1523		CNG335	Congenital Ectropion Uveae	14
1524	c	OCY012	Oocyte Maturation Defect 11	14
1525		FNG014	Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature	14
1526		ART130	Arthrogryposis with Hyperkeratosis	14
1527	c	TNX002	Tnxb-Related Classical-Like Ehlers-Danlos Syndrome	14
1528		ECT107	Ectasia of the Left Atrial Appendage	14
1529		INF188	Inferior Vena Cava Interruption Without Azygos Continuation	14
1530		PRP103	Peripapillary Staphyloma	14
1531		HRR003	Herrmann Opitz Craniosynostosis	13
1532		MCR299	Microlissencephaly-Micromelia Syndrome	13
1533		CRN087	Craniomicromelic Syndrome	13
1534	c	CTR176	Cataract, Age-Related Nuclear	13
1535		CNG587	Congenital Limb Malformation	13
1536	c	NNP008	Nanophthalmos 3	13
1537		THR083	Third Branchial Cleft Anomaly	13
1538		GLB019	Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	13
1539		TRN045	True Unicornuate Uterus	13
1540		SHR090	Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	13
1541		PRT184	Partial Deletion of the Long Arm of Chromosome 11	13
1542		XLN144	X-Linked Intellectual Disability, Seemanova Type	13
1543		CRT077	Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	13
1544		CNG282	Congenital Knee Dislocation	13
1545		CNG344	Congenital Anomaly of the Inferior Vena Cava	13
1546	c	NRB011	Neuroblastoma 4	13
1547		ERL036	Early-Onset Posterior Subcapsular Cataract	13
1548		AGN011	Agenesis of the Superior Vena Cava	13
1549	c	INT382	Intermediate Atrioventricular Septal Defect	12
1550		PRT180	Partial Deletion of the Long Arm of Chromosome 7	12
1551		CLF040	Cleft Lip-Retinopathy Syndrome	12
1552	c	GJC002	Gjc2-Related Late-Onset Primary Lymphedema	12
1553		INT357	Intestinal Malformation	12
1554		THC006	Thickened Earlobes-Conductive Deafness Syndrome	12
1555		PRT237	Partial Deletion of the Long Arm of Chromosome 16	12
1556	c	CNG343	Congenital Coronary Artery Aneurysm	12
1557		PRT169	Partial Deletion of the Short Arm of Chromosome 11	12
1558		PRC041	Pericardial and Diaphragmatic Defect	12
1559		FRN052	Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	12
1560		DST089	Distal Trisomy 3p	12
1561	c	TRS033	Trisomy 18-Like Syndrome	12
1562		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	12
1563		SYM014	Symbrachydactyly of Hands and Feet	12
1564	c	NRB013	Neuroblastoma 6	12
1565		PRT186	Partial Duplication of the Long Arm of Chromosome X	12
1566		PRT138	Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	12
1567	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	12
1568		DST081	Distal Trisomy 11q	12
1569		CLF038	Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome	12
1570		XLN142	X-Linked Intellectual Disability, Stevenson Type	12
1571	c	VNB003	Van Buchem Disease Type 2	12
1572		CNG279	Congenital Pseudoarthrosis of the Ulna	11
1573	c	MTR067	Maternal Uniparental Disomy of Chromosome 16	11
1574		DYS176	Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome	11
1575	c	CTD001	Ctdp1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy	11
1576		DST085	Distal Trisomy 2q	11
1577		UNL012	Unilateral Hemispheric Polymicrogyria	11
1578		PRT200	Partial Duplication of the Long Arm of Chromosome 2	11
1579		CNG352	Congenital Stenosis of the Inferior Vena Cava	11
1580		TNN014	Tunnel Subaortic Stenosis	11
1581		ACR121	Acromelic Dysplasia	11
1582		PRN048	Prenatal Benign Hypophosphatasia	11
1583		DST057	Distal Trisomy 19q	11
1584		DST076	Distal Trisomy 13q	11
1585	c	DYS225	Dyskeratosis Congenita, Autosomal Recessive 8	11
1586		SBR012	Subaortic Stenosis, Membranous	11
1587		CNG327	Congenital Epstein-Barr Virus Infection	11
1588		PRT106	Partial Duplication of the Short Arm of Chromosome X	11
1589		FCL058	Facial Arteriovenous Malformation	11
1590		CHL160	Childhood-Onset Steinert Myotonic Dystrophy	11
1591		ONY006	Onychodystrophy-Anonychia	11
1592	c	PTR019	Paternal Uniparental Disomy of Chromosome 5	11
1593		INT248	Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	11
1594		MRN008	Marin-Amat Syndrome	11
1595		PRT166	Partial Deletion of the Short Arm of Chromosome 10	11
1596		PRC042	Parachute Tricuspid Valve	11
1597		PYR042	Pyramidal Molars-Abnormal Upper Lip Syndrome	10
1598		SPL071	Split Cord Malformation Type Ii	10
1599		LFT022	Left Sided Atrial Isomerism	10
1600	c	RRR004	Rare Arteriovenous Malformation	10
1601		PRT202	Partial Duplication of the Long Arm of Chromosome 6	10
1602		DBR003	Dobrow Syndrome	10
1603		3Q2004	3q26 Microduplication Syndrome	10
1604	c	CNG406	Congenital Pulmonary Airway Malformation Type 0	10
1605		PRT171	Partial Deletion of the Short Arm of Chromosome 18	10
1606	c	PTL011	Patella, Familial Recurrent Dislocation of	10
1607		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	10
1608		PRM302	Paramedian Facial Cleft	10
1609		DST078	Distal Trisomy 6q	10
1610		SYN027	Syngnathia Cleft Palate	10
1611	c	PRT182	Partial Monosomy of the Long Arm of Chromosome 9	10
1612		FML336	Familial Patent Arterial Duct	10
1613		CRN207	Coronary Sinus Stenosis	10
1614		PRT160	Partial Deletion of the Short Arm of Chromosome 4	10
1615	c	EZH001	Ezh2-Related Overgrowth	10
1616		PRT231	Partial Duplication of Chromosome 4	10
1617	c	BRC035	Brachydactyly Type A5	10
1618		PRT167	Partial Deletion of the Short Arm of Chromosome 9	10
1619		BLK004	Blake Pouch Cyst	10
1620		XLN252	X-Linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection	10
1621		KLH007	Klhl7-Related Bohring-Opitz-Like/cold-Induced Sweating-Like Overlap Syndrome	10
1622		PRT179	Partial Deletion of the Long Arm of Chromosome 6	10
1623		PRT236	Partial Deletion of the Long Arm of Chromosome 15	10
1624		PRT249	Partial Autosomal Monosomy	10
1625		OMP003	Omphalomesenteric Cyst	9
1626	c	SCN085	Secondary Ectropion	9
1627		INV017	Inverse Marcus-Gunn Phenomenon	9
1628		PRT218	Partial Duplication of the Short Arm of Chromosome 3	9
1629		PRT195	Partial Duplication of the Long Arm of Chromosome 8	9
1630		DST088	Distal Trisomy 1p36	9
1631	c	FML317	Familial Monosomy 7 Syndrome	9
1632	P	PRM337	Primary Osteolysis	9
1633	c	MTR064	Maternal Uniparental Disomy of Chromosome 22	9
1634		PRT238	Partial Deletion of the Long Arm of Chromosome 17	9
1635		PRT241	Partial Deletion of the Long Arm of Chromosome 20	9
1636		DST087	Distal Trisomy 7p	9
1637		PRT225	Partial Duplication of Chromosome 17	9
1638		CNG355	Congenital Eyelid Retraction	9
1639		TRC108	Trichodysplasia-Amelogenesis Imperfecta Syndrome	9
1640		ISL071	Isolated Congenital Ectropion	9
1641	c	CRB128	Cerebrofacial Arteriovenous Metameric Syndrome Type 1	9
1642		MXD041	Mixed Cystic Lymphatic Malformation	9
1643	c	LCL023	Localized Dystrophic Epidermolysis Bullosa	9
1644		HRS009	Hirschsprung Nail Hypoplasia Dysmorphism	9
1645		PRT235	Partial Deletion of the Long Arm of Chromosome 14	9
1646		CLS028	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form	9
1647		PRT226	Partial Duplication of Chromosome 16	9
1648		CNG287	Congenital Absence of Both Forearm and Hand	9
1649		JNT005	Joint Formation Defects	9
1650		PRT239	Partial Deletion of the Long Arm of Chromosome 18	9
1651	c	MTR065	Maternal Uniparental Disomy of Chromosome 21	9
1652		CNG602	Congenital Anomaly of the Great Arteries	9
1653		PRT146	Partial Deletion of Chromosome 8	8
1654		PRT242	Partial Deletion of the Long Arm of Chromosome 21	8
1655		PHK009	Phakomatosis Cesiomarmorata	8
1656		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	8
1657		PRT197	Partial Duplication of the Long Arm of Chromosome 15	8
1658		PRT217	Partial Duplication of the Short Arm of Chromosome 4	8
1659	c	LRY050	Laryngotracheoesophageal Cleft Type 2	8
1660		CHN052	Choanal Atresia, Bilateral	8
1661		CCH012	Cochleovestibular Malformation	8
1662		DGS009	Digestive Tract Malformation	8
1663	c	EDR001	Eed-Related Overgrowth	8
1664	c	SCL053	Sclerocornea, Autosomal Dominant	8
1665	c	CRB127	Cerebrofacial Arteriovenous Metameric Syndrome Type 3	8
1666	c	ISL038	Isolated Focal Cortical Dysplasia Type Ib	8
1667		EXT043	External Auditory Canal Aplasia/hypoplasia	8
1668		PRT149	Partial Deletion of Chromosome 7	8
1669		PRT199	Partial Duplication of the Long Arm of Chromosome 13	8
1670		PRT234	Partial Duplication of Chromosome 7	8
1671		PRT174	Partial Deletion of the Long Arm of Chromosome 1	8
1672		PRT223	Partial Duplication of Chromosome 11	8
1673		PRT150	Partial Deletion of the Long Arm of Chromosome 12	8
1674		1P3003	1p35.2 Microdeletion Syndrome	8
1675		PRT176	Partial Deletion of the Long Arm of Chromosome 3	8
1676		PRT219	Partial Duplication of the Short Arm of Chromosome 6	8
1677		ISL023	Isolated Congenital Auditory Ossicle Malformation	8
1678		CNG249	Congenital Pulmonary Venous Return Anomaly	8
1679		PRT192	Partial Duplication of the Long Arm of Chromosome 22	8
1680		12Q001	12q15q21.1 Microdeletion Syndrome	8
1681	c	PRT194	Partial Trisomy of the Long Arm of Chromosome 9	8
1682	c	KRN003	Kernicterus Due to Isoimmunization	8
1683		DZX006	Diazoxide-Resistant Focal Hyperinsulinism	7
1684		7Q3001	7q31 Microdeletion Syndrome	7
1685		FML352	Familial Scaphocephaly Syndrome	7
1686		NND009	Non-Distal Trisomy 9q	7
1687		LCR016	Lacrimal Drainage System Anomaly	7
1688		TBL020	Tubular Duplication of the Esophagus	7
1689		IDP088	Idiopathic Isolated Micropenis	7
1690		ECS003	Eec Syndrome and Related Disorders	7
1691		HYP850	Hypoglossia/aglossia	7
1692		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	7
1693	c	PRT170	Partial Monosomy of the Short Arm of Chromosome 17	7
1694		SYN096	Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication	7
1695		CNG610	Congenital Hypoplasia of Thumb	7
1696		PRM160	Premature Closure of the Arterial Duct	7
1697	c	46X063	46,xy Disorder of Sex Development Due to Impaired Androgen Production	7
1698	c	MTR079	Maternal Uniparental Disomy of Chromosome 13	7
1699	c	PTR022	Paternal Uniparental Disomy of Chromosome 7	7
1700		PRT168	Partial Deletion of the Short Arm of Chromosome 16	7
1701	c	PTR023	Paternal Uniparental Disomy of Chromosome 13	7
1702	c	CNG251	Congenital Pericardium Anomaly	7
1703	c	LSS019	Lissencephaly with Cerebellar Hypoplasia Type E	7
1704		PRT147	Partial Deletion of Chromosome 9	7
1705		PRT216	Partial Trisomy of Chromosome 20	7
1706		PRT213	Partial Duplication of Chromosome 19	7
1707		PRT201	Partial Duplication of the Long Arm of Chromosome 3	7
1708		PRT222	Partial Duplication of Chromosome 8	7
1709	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	6
1710		PRS138	Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium	6
1711		OKH001	Okihiro Syndrome Due to a Point Mutation	6
1712		PRT189	Partial Duplication of the Long Arm of Chromosome 19	6
1713		PRT191	Partial Duplication of the Long Arm of Chromosome 17	6
1714		GST110	Gastroduodenal Malformation	6
1715	c	LSS023	Lissencephaly with Cerebellar Hypoplasia Type C	6
1716		CMM026	Common Cystic Lymphatic Malformation	6
1717		CNG345	Congenital Anomaly of Superior Vena Cava	6
1718		ERL041	Early-Onset Zonular Cataract	6
1719		FCL034	Facial Dermoid Cyst	6
1720		LWR011	Lower Lip Fistula	6
1721	c	BCK011	Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion	6
1722	c	CLS057	Celsr1-Related Late-Onset Primary Lymphedema	6
1723		RRT021	Rare Otorhinolaryngological Malformation	6
1724	c	TTL014	Total Autosomal Monosomy	6
1725		ISL044	Isolated Arhinencephaly	6
1726		FML194	Familial Clubfoot with or Without Associated Lower Limb Anomalies	6
1727		DBL016	Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy	6
1728		PRT248	Partial Autosomal Trisomy/tetrasomy	6
1729		PRT157	Partial Deletion of Chromosome 19	6
1730		EXT047	Extralobar Congenital Pulmonary Sequestration	6
1731	c	RRD061	Rare Disorder with Ptosis	6
1732		PLM178	Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome	6
1733		TRM028	Terminal Transverse Limb Defect	6
1734		NNS064	Non-Syndromic Central Nervous System Malformation	5
1735		NSN002	Nose and Cavum Anomaly	5
1736		PRT227	Partial Deletion of the Long Arm of Chromosome 22	5
1737		PRT243	Partial Duplication of the Short Arm of Chromosome 1	5
1738		ISL117	Isolated Congenital Radial Head Dislocation	5
1739		NNS148	Non-Syndromic Unisutural Craniosynostosis	5
1740		CNG353	Congenital Partial Agenesis of Pericardium	5
1741		PRT139	Partial Bilateral Aplasia of the Mullerian Ducts	5
1742		CNG317	Congenital Genu Flexum	5
1743		ABN010	Abnormal Number of Coronary Ostia	5
1744		BCK010	Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion	5
1745		CNG582	Congenital Disorder of Glycosylation with Deafness As a Major Feature	5
1746		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	5
1747		MLP009	Malposition of a Coronary Ostium	5
1748		KDM002	Kdm3b-Related Intellectual Disability-Facial Dysmorphism-Short Stature Syndrome	5
1749	c	KLH006	Klhl7-Related Bohring-Opitz-Like Syndrome	5
1750		SPR109	Supratip Dysplasia	5
1751		STR075	Straddling or Overriding Tricuspid Valve	5
1752		CNG537	Congenital Anomaly of the Tricuspid Valve Chordae	5
1753	P	PRM346	Primary Lymphedema Without Systemic or Visceral Involvement	5
1754		LTH049	Lethal Multiple Congenital Anomalies/dysmorphic Syndrome	5
1755		SYN160	Syndromic Intestinal Malformation	5
1756		SYN097	Syndromic Urogenital Tract Malformation	5
1757		RRP026	Rare Palpebral Disorder	5
1758	P	YCH005	Y Chromosome Number Anomaly	5
1759		PRT247	Partial Duplication of the Short Arm of Chromosome 19	5
1760		HMZ005	Homozygous 2p21 Microdeletion Syndrome	5
1761		MDN007	Median Cleft Lip/mandibule	5
1762		CNG493	Congenital Generalized Hypercontractile Muscle Stiffness Syndrome	5
1763		PRM134	Primary Laryngeal Lymphangioma	5
1764		ISL130	Isolated Congenital Entropion	5
1765		SYN156	Syndrome with Limb Malformations As a Major Feature	5
1766		NNS062	Non-Syndromic Limb Malformation	5
1767	c	XCH002	X Chromosome Number Anomaly	5
1768		NNS142	Non-Syndromic Multisutural Craniosynostosis	5
1769		ISL127	Isolated Blepharochalasis	5
1770	c	ISL039	Isolated Focal Cortical Dysplasia Type Ic	5
1771	P	ISL048	Isolated Cerebellar Vermis Agenesis	5
1772		SYN144	Syndromic Outer Canthal Malposition	5
1773		CRN313	Corneodysgenesis	5
1774		OVR117	Overgrowth Syndrome with 2q37 Translocation	5
1775		APR011	Aprosencephaly/atelencephaly Spectrum	5
1776		RSP024	Respiratory or Mediastinal Malformation	5
1777		NNS137	Non-Syndromic Pansynostosis	5
1778		NNS104	Non-Syndromic Anorectal Malformation with Rectovesical Fistula	4
1779		STR107	Sterol Biosynthesis Disorder	4
1780		ATR096	Atrioventricular Valve Anomaly	4
1781		VSC061	Vascular Anomaly or Angioma	4
1782	c	ATS022	Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract	4
1783		CYS048	Cysts and Fistulae of the Face and Oral Cavity	4
1784		NNS108	Non-Syndromic Anorectal Malformation with Rectourethral Fistula	4
1785		CNG598	Congenital Malformation of the Eye with Glaucoma As a Major Feature	4
1786		DRG019	Drug-Related Renal Tubular Dysgenesis	4
1787		SYN162	Syndromic Esophageal Malformation	4
1788	c	46X062	46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect	4
1789		CNG270	Congenital Primary Megaureter, Obstructed Form	4
1790		MCR377	Microblepharon-Ablephara Syndrome	4
1791		CNG331	Congenital Bilateral Megacalycosis	4
1792		46X066	46,xy Disorder of Sex Development of Endocrine Origin	4
1793		OTH025	Other Syndrome with Lissencephaly As a Major Feature	4
1794		NNS111	Non-Syndromic Anorectal Malformation with Rectourethral Fistula, Bulbar Type	4
1795	P	46X065	46,xy Disorder of Gonadal Development	4
1796		OVR124	Overgrowth/obesity Syndrome	4
1797		NNS109	Non-Syndromic Anorectal Malformation with Perineal Fistula	4
1798		CNG269	Congenital Primary Megaureter, Refluxing Form	4
1799	c	PRM147	Primary Megaureter, Adult-Onset Form	4
1800		CMM017	Communicating Congenital Bronchopulmonary-Foregut Malformation	4
1801		DPH030	Diaphragmatic or Abdominal Wall Malformation	4
1802		MLF008	Malformation of the Cerebellar Hemispheres	4
1803		SYN147	Syndromic Ankyloblepharon Filiforme Adnatum	4
1804		CNG268	Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form	4
1805		LNS009	Lens Size Anomaly	4
1806		MCR187	Macrodactyly of Fingers, Bilateral	4
1807		46X070	46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess	4
1808		SYN159	Syndromic Diaphragmatic or Abdominal Wall Malformation	4
1809		SXC005	Sex-Chromosome Number Anomaly	4
1810		EYL007	Eyelid Border Anomaly	4
1811		ORM003	Oromandibular-Limb Anomalies Syndrome	4
1812		HYP178	Hyperthermia Induced Defects	4
1813		SYN161	Syndromic Visceral Malformation	4
1814		NNS053	Non Syndromic Limb Overgrowth	4
1815		CNG316	Congenital Vertical Talus, Bilateral	4
1816		NNS060	Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy	3
1817		CMP099	Complete Hemimelia	3
1818		DYS202	Dysostosis with Limb Anomaly As a Major Feature	3
1819		DYS207	Dysostosis with Brachydactyly Without Extraskeletal Manifestations	3
1820		SYN163	Syndromic Gastroduodenal Malformation	3
1821		TRT023	Teratogenic Pierre Robin Syndrome	3
1822		MSM021	Mesomelic and Rhizo-Mesomelic Dysplasia	3
1823		NNS068	Non-Syndromic Intestinal Malformation	3
1824		SYN130	Syndromic Lacrimal System Disorder	3
1825		NNS098	Non-Syndromic Anorectal Malformation with Rectovaginal Fistula	3
1826		MLF007	Malformation Syndrome with Hamartosis	3
1827		PRR037	Pierre Robin Syndrome Associated with a Chromosomal Anomaly	3
1828		INF180	Infantile Hemangioma of Rare Localization	3
1829		OTH026	Other Syndrome with a Central Nervous System Malformation As a Major Feature	3
1830		NNS051	Non-Syndromic Urogenital Tract Malformation of Male	3
1831		NNS102	Non-Syndromic Anorectal Malformation with Rectal Atresia	3
1832		ISL152	Isolated Congenital Hypoglossia	3
1833		PRR039	Pierre Robin Syndrome Associated with Branchial Archs Anomalies	3
1834		NNS099	Non-Syndromic Anorectal Malformation with H-Type Fistula	3
1835		NNS069	Non-Syndromic Esophageal Malformation	3
1836		PRR036	Pierre Robin Syndrome Associated with Collagen Disease	3
1837		CNT113	Central Nervous System Cystic Malformation	3
1838		NNS105	Non-Syndromic Anorectal Malformation with Vestibular Fistula	3
1839	c	46X067	46,xx Disorder of Gonadal Development	3
1840		TRN077	Transposition of the Great Arteries and Conotruncal Cardiac Anomaly	3
1841		NNS052	Non-Syndromic Urogenital Tract Malformation of Male and Female	2
1842		CHR693	Chromosomal Disease with Overgrowth	2
1843		ISL162	Isolated Female Hypospadias	2
1844		XCH003	X Chromosome Number Anomaly with Female Phenotype	2
1845		SYN107	Syndrome or Malformation Associated with Head and Neck Malformations	2
1846	P	TST021	Testicular Germ Cell Tumor	58
1847	c	TST046	Testicular Germ Cell Tumor 1	32
1848		UND001	Undifferentiated Embryonal Sarcoma of the Liver	21
1849	c	HYD046	Hydatidiform Mole, Recurrent, 1	60
1850	P	END039	Endodermal Sinus Tumor	44
1851	P	RCR026	Recurrent Hydatidiform Mole	23
1852	c	ADL047	Adult Endodermal Sinus Tumor	7
1853		SPR008	Supratentorial Primitive Neuroectodermal Tumor	41
1854	c	PRS122	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	41
1855		MLT178	Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	38
1856		CNT115	Central Nervous System Embryonal Tumor	24
1857		WLL022	Well-Differentiated Fetal Adenocarcinoma of the Lung	17
1858	c	PRS137	Persistent Hyperplastic Primary Vitreous, Autosomal Dominant	11
1859	P	HYP086	Hypothyroidism	68
1860	c	CNG006	Congenital Hypothyroidism	64
1861	P	LFT003	Left Ventricular Noncompaction	55
1862		GRC001	Gracile Syndrome	53
1863	c	NML025	Nemaline Myopathy 8	40
1864	P	EMB018	Embryonal Tumor with Multilayered Rosettes, C19mc-Altered	39
1865	c	LFT017	Left Ventricular Noncompaction 8	29
1866	c	LFT021	Left Ventricular Noncompaction 1	29
1867	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	28
1868	c	LFT018	Left Ventricular Noncompaction 10	28
1869	c	CNT101	Central Congenital Hypothyroidism	26
1870	c	LFT020	Left Ventricular Noncompaction 7	20
1871	c	PRM316	Primary Congenital Hypothyroidism	19
1872	c	LFT011	Left Ventricular Noncompaction 2	19
1873	c	TRN047	Transient Congenital Hypothyroidism	16
1874	c	CNG263	Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs	14
1875	c	CNG543	Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies	14
1876	c	RRH009	Rare Hypothyroidism	12
1877	c	CNG591	Congenital Hypothyroidism Due to Developmental Anomaly	8
1878		CHL048	Childhood Teratocarcinoma of the Testis	6
1879		CHL031	Childhood Vagina Botryoid Rhabdomyosarcoma	6
1880	c	TRN076	Transient Congenital Hypothyroidism Due to Neonatal Factor	5
1881	c	HYP232	Hypothyroidism Due to Iodide Transport Defect	5
1882	c	TRN075	Transient Congenital Hypothyroidism Due to Maternal Factor	5
1883	c	RRD014	Rare Adult Hypothyroidism	4
1884	P	OST002	Osteoporosis	82
1885		PHN003	Phenylketonuria	76
1886	P	DMN001	Diamond-Blackfan Anemia	74
1887		BRT054	Brittle Bone Disorder	73
1888	P	CRD224	Cardiofaciocutaneous Syndrome 1	70
1889	P	TRN020	Turner Syndrome	70
1890		PPL049	Papillon-Lefevre Syndrome	70
1891		CST001	Costello Syndrome	70
1892	c	MCL062	Mucolipidosis Ii Alpha/beta	69
1893		BLM001	Bloom Syndrome	66
1894	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	66
1895		ACH004	Achondroplasia	66
1896	P	CRN015	Cornelia De Lange Syndrome	66
1897	P	CNG001	Congenital Myasthenic Syndrome	65
1898	c	CNG012	Congenital Generalized Lipodystrophy	65
1899	c	DMN023	Diamond-Blackfan Anemia 1	64
1900	c	ANM038	Anemia, Autoimmune Hemolytic	64
1901	P	HML002	Hemolytic Anemia	63
1902	P	OST001	Osteopetrosis	63
1903	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	63
1904		PHL006	Phelan-Mcdermid Syndrome	63
1905	c	USH036	Usher Syndrome, Type I	63
1906	P	USH001	Usher Syndrome	62
1907	c	CRN139	Cornelia De Lange Syndrome 1	62
1908	c	LYS019	Loeys-Dietz Syndrome 1	62
1909	P	BCK002	Beckwith-Wiedemann Syndrome	61
1910		ENC044	Enchondromatosis, Multiple, Ollier Type	61
1911		CRN051	Craniofacial Microsomia	61
1912	c	MCP004	Mucopolysaccharidosis Iv	61
1913		DBL002	Double Outlet Right Ventricle	61
1914	P	PTT014	Pitt-Hopkins Syndrome	60
1915		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	60
1916	P	HMN010	Hemangioma	60
1917		HYP706	Hypermobile Ehlers-Danlos Syndrome	60
1918		RGH009	Right Atrial Isomerism	60
1919	P	MCR010	Microcephaly	59
1920	c	LPD033	Lipodystrophy, Congenital Generalized, Type 2	59
1921		TTZ003	Tietz Albinism-Deafness Syndrome	59
1922	c	LYS021	Loeys-Dietz Syndrome 3	59
1923	c	ORF040	Orofaciodigital Syndrome Viii	59
1924		OCC006	Occipital Horn Syndrome	59
1925		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	59
1926	c	LSS005	Lissencephaly 1	59
1927	c	SPN330	Spondylocostal Dysostosis 5	58
1928	c	CCK008	Cockayne Syndrome a	58
1929		BLR001	Biliary Atresia	58
1930		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	58
1931		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	57
1932		CRN276	Corneal Endothelial Dystrophy	57
1933		MCR013	Microphthalmia	57
1934	P	BRN006	Branchiootorenal Syndrome	57
1935	P	CRP023	Carpenter Syndrome 1	57
1936	P	JNC001	Junctional Epidermolysis Bullosa	57
1937	P	MLT007	Multiple Epiphyseal Dysplasia	57
1938		DNN002	Donnai-Barrow Syndrome	57
1939	c	MCP048	Mucopolysaccharidosis, Type Ivb	56
1940	P	VSC013	Visceral Heterotaxy	56
1941	P	CCH009	Coach Syndrome 1	56
1942	P	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	56
1943	P	EPD116	Epidermolysis Bullosa, Junctional 5b, with Pyloric Atresia	56
1944		LRN001	Laurence-Moon Syndrome	56
1945	P	INT099	Intrahepatic Cholestasis of Pregnancy	56
1946		FCL081	Focal Cortical Dysplasia, Type Ii	56
1947		CMP034	Complete Androgen Insensitivity Syndrome	56
1948		KBG001	Kbg Syndrome	55
1949	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	55
1950		PLC005	Placental Insufficiency	55
1951	c	USH037	Usher Syndrome, Type Iia	55
1952		VCS001	Vici Syndrome	55
1953	P	MTR003	Mitral Valve Stenosis	55
1954		CNN011	Cenani-Lenz Syndactyly Syndrome	55
1955		OPT054	Opitz-Kaveggia Syndrome	55
1956	c	LYS018	Loeys-Dietz Syndrome 2	55
1957	P	HYP050	Hyperinsulinemic Hypoglycemia	55
1958		MLT161	Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly	55
1959	c	LPD032	Lipodystrophy, Congenital Generalized, Type 1	54
1960	c	PTT029	Pitt-Hopkins-Like Syndrome 1	54
1961		MGL038	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	54
1962	c	OST164	Osteoporosis, Juvenile	54
1963	c	HYD064	Hydrocephalus, Congenital, 1	54
1964		ACR058	Acrofacial Dysostosis 1, Nager Type	54
1965	c	ACH041	Achondrogenesis, Type Ii	54
1966		OCL008	Oculopharyngeal Muscular Dystrophy	54
1967		CRD180	Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma	54
1968	c	LYS017	Loeys-Dietz Syndrome 4	53
1969	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	53
1970		FRY006	Fryns Microphthalmia Syndrome	53
1971	P	MRT010	Martsolf Syndrome 1	53
1972		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	52
1973	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	52
1974	P	ANN002	Anencephaly	52
1975	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	52
1976	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	52
1977		SCH068	Schwartz-Jampel Syndrome, Type 1	52
1978		CLF037	Cleft Lip/palate-Ectodermal Dysplasia Syndrome	52
1979	P	DSR090	Disorder of Sexual Development	52
1980		GLY031	Glycoproteinosis	52
1981	c	BRC051	Brachydactyly, Type B1	51
1982	c	PRM031	Primary Autosomal Recessive Microcephaly	51
1983		PLM041	Pulmonary Valve Stenosis	51
1984	c	TRC092	Trichorhinophalangeal Syndrome, Type I	51
1985	P	KRT028	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	51
1986		ACR002	Acrocapitofemoral Dysplasia	51
1987		EHL079	Ehlers-Danlos Syndrome, Dermatosparaxis Type	51
1988	c	MCR251	Microphthalmia, Syndromic 6	50
1989	c	USH040	Usher Syndrome, Type Id	50
1990	c	LYS020	Loeys-Dietz Syndrome 5	50
1991		CNT056	Cantu Syndrome	50
1992	c	OST126	Osteopetrosis, Autosomal Recessive 1	50
1993		MLB001	Mulibrey Nanism	50
1994		HYR002	Hoyeraal Hreidarsson Syndrome	50
1995	P	VHW001	Vohwinkel Syndrome	50
1996	P	HYD033	Hydrolethalus Syndrome 1	50
1997	P	ACH011	Achondrogenesis	50
1998	c	PSD047	Pseudo-Turner Syndrome	50
1999		WDM004	Wiedemann-Steiner Syndrome	50
2000	P	HLL001	Hallermann-Streiff Syndrome	50
2001		GLD006	Goldberg-Shprintzen Syndrome	50
2002		MRS004	Marshall-Smith Syndrome	50
2003	P	PRT042	Parietal Foramina	50
2004	P	KLF001	Kleefstra Syndrome	49
2005		ACR043	Acromicric Dysplasia	49
2006	c	NNN028	Noonan Syndrome-Like Disorder with Loose Anagen Hair 1	49
2007	c	BRC109	Brachydactyly, Type E1	49
2008	P	BNM029	Bone Mineral Density Quantitative Trait Locus 15	49
2009	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	49
2010	P	ORF001	Orofaciodigital Syndrome	49
2011	P	CNG003	Congenital Dyserythropoietic Anemia	48
2012	c	USH039	Usher Syndrome, Type Ic	48
2013	c	CNG027	Congenital Hemolytic Anemia	48
2014		CRR002	Currarino Syndrome	48
2015		GLC106	Glucocorticoid Resistance, Generalized	48
2016		PLY024	Polymicrogyria	48
2017	P	GND004	Gonadal Dysgenesis	48
2018		MCR103	Microtia	48
2019		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	48
2020		OLV001	Olivopontocerebellar Atrophy	48
2021	c	VNM003	Van Maldergem Syndrome 1	48
2022		KNG004	King-Denborough Syndrome	48
2023		HYP059	Hypertelorism, Microtia, Facial Clefting Syndrome	48
2024		SPN402	Spinal Muscular Atrophy, X-Linked 2	48
2025	c	OST129	Osteopetrosis, Autosomal Recessive 2	48
2026		HYP596	Hypophosphatasia, Childhood	48
2027	c	USH020	Usher Syndrome, Type Iic	48
2028	c	CRN134	Cornelia De Lange Syndrome 2	47
2029		LBR025	Lobar Holoprosencephaly	47
2030		CHR659	Chromosome 22q11.2 Duplication Syndrome	47
2031	c	ANT085	Anterior Segment Dysgenesis 5	47
2032	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	47
2033	c	BRW009	Brown-Vialetto-Van Laere Syndrome 1	47
2034		CHR492	Chromosome 13q14 Deletion Syndrome	47
2035		MLL011	Mullerian Aplasia and Hyperandrogenism	47
2036		CRB147	Cerebellofaciodental Syndrome	47
2037		SHR059	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	47
2038	c	OST120	Osteopetrosis, Autosomal Recessive 5	47
2039		WHT019	White-Sutton Syndrome	46
2040	c	BRN131	Branchiootorenal Syndrome 1	46
2041		VNS013	Venous Malformations, Multiple Cutaneous and Mucosal	46
2042	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	46
2043		SHR044	Short Rib-Polydactyly Syndrome	46
2044	c	BRW008	Brown-Vialetto-Van Laere Syndrome 2	46
2045	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	46
2046	P	ACQ022	Acquired Generalized Lipodystrophy	46
2047	c	MCR124	Microphthalmia, Isolated 1	46
2048	P	PRX021	Proximal Symphalangism	46
2049	P	GLL032	Galloway-Mowat Syndrome	46
2050	c	USH041	Usher Syndrome, Type if	45
2051	c	MCR247	Microcephaly 1, Primary, Autosomal Recessive	45
2052		CYS002	Cystic Lymphangioma	45
2053	c	DMN021	Diamond-Blackfan Anemia 6	45
2054	c	PTT030	Pitt-Hopkins-Like Syndrome 2	45
2055	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	45
2056	c	DMN029	Diamond-Blackfan Anemia 11	45
2057	P	SPN016	Spondylocostal Dysostosis	45
2058	P	HRN001	Horner's Syndrome	44
2059		DYS018	Dysostosis	44
2060	P	SYN060	Syndactyly, Type Iii	44
2061		FNT005	Fontaine Progeroid Syndrome	44
2062		MDD010	Middle Ear Disease	44
2063	c	USH021	Usher Syndrome, Type Iid	44
2064		DRM021	Dermatopathia Pigmentosa Reticularis	44
2065		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	44
2066		PLY062	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy	44
2067	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	44
2068		MCR099	Microlissencephaly	44
2069		SPN251	Spondyloenchondrodysplasia with Immune Dysregulation	44
2070		CHR667	Chromosome 3pter-P25 Deletion Syndrome	44
2071		CHR594	Chromosome 3q29 Deletion Syndrome	44
2072	P	PLM158	Palmoplantar Keratoderma and Congenital Alopecia 1	44
2073	P	ECT005	Ectropion	44
2074	c	SYN061	Syndactyly, Type Iv	44
2075		PLC003	Placental Site Trophoblastic Tumor	44
2076	P	NNN037	Noonan Syndrome-Like Disorder with Loose Anagen Hair	44
2077	P	CMM008	Communicating Hydrocephalus	43
2078	c	USH042	Usher Syndrome, Type Ig	43
2079	c	ANM080	Anemia, Congenital Dyserythropoietic, Type Iiia	43
2080	c	ORF027	Orofacial Cleft 11	43
2081	c	MYS052	Myasthenic Syndrome, Congenital, 10	43
2082		CLF028	Cleft Soft Palate	43
2083	c	BRC052	Brachydactyly, Type B2	43
2084		EKN001	Eiken Syndrome	43
2085		RBF003	Riboflavin Transporter Deficiency	43
2086	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	43
2087		HML058	Hemolytic Disease of Fetus and Newborn, Rh-Induced	43
2088	c	USH044	Usher Syndrome, Type Iiib	42
2089		TRS002	Tarsal-Carpal Coalition Syndrome	42
2090	c	DMN006	Diamond-Blackfan Anemia 3	42
2091	c	MCR255	Microcephaly 9, Primary, Autosomal Recessive	42
2092	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	42
2093	P	ORF002	Orofacial Cleft	42
2094	c	CHL116	Cholestasis, Intrahepatic, of Pregnancy, 1	42
2095		CHR502	Chromosome 17q12 Duplication Syndrome	41
2096	c	MCR320	Microcephaly 17, Primary, Autosomal Recessive	41
2097	c	BNM022	Bone Mineral Density Quantitative Trait Locus 8	41
2098	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	41
2099	c	MYS075	Myasthenic Syndrome, Congenital, 13	41
2100	c	MCR137	Microphthalmia, Isolated 2	41
2101	c	MYS074	Myasthenic Syndrome, Congenital, 12	41
2102	c	MCR122	Microphthalmia, Isolated 5	41
2103	P	PLM182	Pulmonary Hypoplasia, Primary	41
2104	c	CHL142	Cholestasis, Intrahepatic, of Pregnancy 3	41
2105	c	MYS076	Myasthenic Syndrome, Congenital, 8	41
2106	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	41
2107		KPR003	Keipert Syndrome	41
2108	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	41
2109		ACR122	Aica-Ribosuria Due to Atic Deficiency	41
2110	c	OST137	Osteopetrosis, Autosomal Recessive 4	41
2111	P	CRN013	Craniodiaphyseal Dysplasia	41
2112	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	40
2113		DSR012	Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency	40
2114	c	CRN209	Cornelia De Lange Syndrome 5	40
2115	c	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
2116	c	MYS078	Myasthenic Syndrome, Congenital, 14	40
2117	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	40
2118		CHR704	Chromosome 16p11.2 Deletion Syndrome	40
2119	P	CRB045	Cerebellar Hypoplasia	40
2120	c	DMN017	Diamond-Blackfan Anemia 10	40
2121	P	PRM018	Primary Hypertrophic Osteoarthropathy	40
2122		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	40
2123		FML307	Familial Calcium Pyrophosphate Deposition	40
2124		NNT004	Neonatal Respiratory Failure	39
2125	c	PRM212	Primary Microcephaly	39
2126		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	39
2127		VRH001	Verheij Syndrome	39
2128		PRT049	Partial Deletion of Y	39
2129		RJS001	Ruijs-Aalfs Syndrome	39
2130		AKL001	Au-Kline Syndrome	39
2131		48X003	48,xxyy Syndrome	39
2132	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	39
2133		PHC018	Phace Association	39
2134	c	PLY149	Polydactyly, Preaxial Iv	39
2135		EPD072	Epidermolysis Bullosa Dystrophica, Pretibial	39
2136	c	46X002	46 Xx Gonadal Dysgenesis	38
2137	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	38
2138	c	MCR250	Microcephaly 6, Primary, Autosomal Recessive	38
2139	P	OMD003	Omodysplasia	38
2140	c	MCR238	Microcephaly 7, Primary, Autosomal Recessive	38
2141	c	SCN005	Secondary Hypertrophic Osteoarthropathy	38
2142	c	MYS067	Myasthenic Syndrome, Congenital, 22	38
2143		ACH001	Acheiropody	38
2144		ART030	Aortic Arch Interruption	38
2145		PRP093	Pierpont Syndrome	38
2146		CRD221	Cardiospondylocarpofacial Syndrome	38
2147	P	ACR106	Acrocephalopolysyndactyly Type Iii	38
2148	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	38
2149	c	DMN020	Diamond-Blackfan Anemia 8	38
2150		CTL005	Catel-Manzke Syndrome	38
2151	c	DMN024	Diamond-Blackfan Anemia 7	38
2152		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	37
2153	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	37
2154		PLT007	Palatopharyngeal Incompetence	37
2155		EPD022	Epidermolysis Bullosa Pruriginosa	37
2156	c	MCR211	Microphthalmia, Isolated 6	37
2157	c	VNM002	Van Maldergem Syndrome 2	37
2158	c	ZMM002	Zimmermann-Laband Syndrome 1	37
2159	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	37
2160	c	SCK029	Seckel Syndrome 7	37
2161	P	PRR032	Pura-Related Neurodevelopmental Disorders	37
2162	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	37
2163	c	MCR329	Microcephaly, Autosomal Dominant	37
2164	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	37
2165		SPT016	Septopreoptic Holoprosencephaly	37
2166	c	FRN033	Frontonasal Dysplasia 2	37
2167	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	37
2168	c	PRT059	Parietal Foramina 1	36
2169		DFN358	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia	36
2170	c	EPD123	Epidermolysis Bullosa, Junctional 4, Intermediate	36
2171		BCH004	Bachmann-Bupp Syndrome	36
2172	c	THN010	Thanatophoric Dysplasia, Type Ii	36
2173		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	36
2174		ECT007	Ectodermal Dysplasia/skin Fragility Syndrome	36
2175		MCR354	Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures	36
2176	P	LSS030	Lissencephaly 7 with Cerebellar Hypoplasia	36
2177		LNG040	Langer Mesomelic Dysplasia	36
2178		PLM013	Pulmonary Immaturity	36
2179	c	MYS070	Myasthenic Syndrome, Congenital, 19	36
2180	c	MCR248	Microcephaly 3, Primary, Autosomal Recessive	36
2181	c	MCR109	Microphthalmia, Isolated 4	36
2182		INT585	Intermediate Generalized Junctional Epidermolysis Bullosa	35
2183	c	RTH007	Rothmund-Thomson Syndrome, Type 1	35
2184		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	35
2185		OCL033	Oculocerebral Syndrome with Hypopigmentation	35
2186		AMN014	Aminopterin Syndrome Sine Aminopterin	35
2187	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	35
2188		CHR381	Chromosome 17q23.1-Q23.2 Deletion Syndrome	35
2189		48X002	48,xxxy Syndrome	35
2190		HYP674	Hyperostosis Cranialis Interna	35
2191		CHR076	Choriocarcinoma of the Testis	35
2192	c	CRD164	Cardiofaciocutaneous Syndrome 3	35
2193	c	OST106	Osteopetrosis, Autosomal Recessive 8	34
2194		ODN025	Odontochondrodysplasia 1	34
2195	P	MTR080	Mitral Valve Prolapse 1	34
2196	c	NNN027	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2	34
2197		SLF015	Self-Improving Collodion Baby	34
2198	c	MYS064	Myasthenic Syndrome, Congenital, 16	34
2199		PST063	Postsynaptic Congenital Myasthenic Syndromes	34
2200		CYS041	Cystic Angiomatosis of Bone, Diffuse	34
2201	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	34
2202		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	34
2203	c	CRP022	Carpenter Syndrome 2	34
2204	c	ISL165	Isolated Microphthalmia 3	34
2205		CHR524	Chromosome 16p13.3 Duplication Syndrome	34
2206	c	USH031	Usher Syndrome, Type Ij	34
2207	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	33
2208	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	33
2209	c	BNM015	Bone Mineral Density Quantitative Trait Locus 18	33
2210	c	CRD167	Cardiofaciocutaneous Syndrome 4	33
2211	c	DMN018	Diamond-Blackfan Anemia 5	33
2212		CBB005	Cobblestone Lissencephaly	33
2213	c	VHW003	Vohwinkel Syndrome, Variant Form	33
2214		ACR099	Acrofacial Dysostosis, Catania Type	33
2215	P	CHR084	Chromosomal Disease	33
2216		CHR582	Chromosome 3q29 Duplication Syndrome	33
2217	c	MYS077	Myasthenic Syndrome, Congenital, 15	33
2218	P	MCR364	Macrodactyly	33
2219	c	RNG008	Ring Chromosome 13	33
2220	P	ZMM001	Zimmermann-Laband Syndrome	33
2221	c	MCR254	Microcephaly 4, Primary, Autosomal Recessive	33
2222		SKR001	Skraban-Deardorff Syndrome	33
2223	c	CRD163	Cardiofaciocutaneous Syndrome 2	32
2224		XLN206	X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	32
2225		ALC002	Alcohol-Related Neurodevelopmental Disorder	32
2226	c	BNM018	Bone Mineral Density Quantitative Trait Locus 3	32
2227		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	32
2228	c	PRT060	Parietal Foramina 2	32
2229		LMB014	Limb-Body Wall Complex	32
2230		NNS061	Non-Syndromic Pontocerebellar Hypoplasia	32
2231	P	BRW001	Brown-Vialetto-Van Laere Syndrome	32
2232	P	NNT042	Neonatal Lupus Erythematosus	32
2233	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	32
2234	c	DMN005	Diamond-Blackfan Anemia 2	32
2235	c	GLL040	Galloway-Mowat Syndrome 3	32
2236	c	DMN049	Diamond-Blackfan Anemia 20	32
2237	c	KRT078	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	32
2238		FMR018	Femoral-Facial Syndrome	31
2239	P	BND014	Bone Development Disease	31
2240		LYM122	Lymphangiectasia, Pulmonary, Congenital	31
2241		ENC047	Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum	31
2242		MSC021	Mosaic Trisomy 9	31
2243		RCH002	Richards-Rundle Syndrome	31
2244	c	ORF048	Orofacial Cleft 1	31
2245		CZC002	Czech Dysplasia	31
2246	P	ANG013	Angioma Serpiginosum	31
2247		ALG027	Al-Gazali-Bakalinova Syndrome	31
2248		SHR124	Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures	31
2249		CPL012	Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth	31
2250		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	30
2251	c	SYM022	Symphalangism, Proximal, 1a	30
2252	c	ANN020	Anencephaly 1	30
2253	P	TRC031	Trichorhinophalangeal Syndrome	30
2254	c	MYS065	Myasthenic Syndrome, Congenital, 18	30
2255	c	VCT004	Vacterl Association with Hydrocephalus	30
2256		MYP163	Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay	30
2257		THR101	Thrombocytopenia, Paris-Trousseau Type	30
2258		BFD002	Bifid Nose with or Without Anorectal and Renal Anomalies	30
2259		CRT069	Cortical Malformations, Occipital	30
2260	c	ORF014	Orofacial Cleft 5	30
2261		DFN039	Deafness-Infertility Syndrome	30
2262	c	BRN086	Branchiootorenal Syndrome 2	30
2263		INT428	Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	29
2264	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	29
2265	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	29
2266		STP011	Stapes Ankylosis with Broad Thumbs and Toes	29
2267		FRN022	Frontofacionasal Dysplasia	29
2268	c	ORF028	Orofacial Cleft 10	29
2269		GRW039	Growth Retardation, Developmental Delay, and Facial Dysmorphism	29
2270	c	DMN022	Diamond-Blackfan Anemia 9	29
2271		CHR248	Chromosome 4p Duplication	29
2272		YNH001	Yuan-Harel-Lupski Syndrome	29
2273		SPN136	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	29
2274		ACR025	Acrocephalopolydactylous Dysplasia	29
2275		XLN232	X-Linked Alport Syndrome-Diffuse Leiomyomatosis	29
2276	c	RNG020	Ring Chromosome 4	28
2277	c	BFD005	Bifid Nose, Autosomal Recessive	28
2278		FBL014	Fibular Hemimelia	28
2279	P	ACR093	Acrofrontofacionasal Dysostosis	28
2280		CHN019	Chand Syndrome	28
2281		CHR399	Chromosome 4q21 Deletion Syndrome	28
2282	P	VCT008	Vacterl with Hydrocephalus	28
2283		IDP062	Idiopathic Syringomyelia	28
2284	c	CLR136	Ciliary Dyskinesia, Primary, 9	28
2285		CHR219	Chromosome 19q13.11 Deletion Syndrome	28
2286		FTL029	Fetal Thalidomide Syndrome	28
2287	c	RNG005	Ring Chromosome 10	28
2288	c	USH045	Usher Syndrome, Type Iv	28
2289		MCR326	Microcephaly-Micromelia Syndrome	28
2290		LBN004	Liebenberg Syndrome	28
2291	c	DMN019	Diamond-Blackfan Anemia 4	28
2292		OPH015	Ophn1 Syndrome	28
2293		TRG019	Trigonocephaly with Short Stature and Developmental Delay	28
2294	c	BLT007	Bilateral Frontal Polymicrogyria	28
2295	c	NNT025	Neonatal Systemic Lupus Erythematosus	28
2296		ICH062	Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	28
2297		FTL073	Fetal Anticonvulsant Syndrome	27
2298	c	HTR009	Heterotaxy, Visceral, 2, Autosomal	27
2299		OCC011	Occipital Encephalocele	27
2300	P	VNM004	Van Maldergem Syndrome	27
2301		LPB001	Lipoblastoma	27
2302	c	MYS056	Myasthenic Syndrome, Congenital, 17	27
2303		CHR366	Chromosome 5p13 Duplication Syndrome	27
2304		WSM003	Weismann-Netter Syndrome	27
2305		RDL022	Radial Hemimelia	27
2306		APR009	Aprosencephaly Syndrome	27
2307		CRN200	Craniosynostosis and Dental Anomalies	27
2308		KPS005	Kaposiform Lymphangiomatosis	27
2309		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	27
2310		CHR393	Chromosome 19p13.13 Deletion Syndrome	27
2311		CHR252	Chromosome 5p Duplication	26
2312		VGN031	Vaginal Atresia	26
2313	c	RNG013	Ring Chromosome 18	26
2314	c	HTR020	Heterotaxy, Visceral, 8, Autosomal	26
2315	c	MCR219	Microphthalmia, Isolated 8	26
2316		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	26
2317		HYD054	Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation	26
2318		ACR107	Acrofacial Dysostosis, Palagonia Type	26
2319	c	GLL042	Galloway-Mowat Syndrome 5	26
2320	c	HTR023	Heterotaxy, Visceral, 6, Autosomal	26
2321		MCR123	Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy	26
2322	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	26
2323	P	ZYG003	Zygodactyly 1	26
2324		PGD001	Pagod Syndrome	26
2325	c	SYN088	Synpolydactyly 2	26
2326		NNS134	Non-Syndromic Bicoronal Craniosynostosis	26
2327	c	MTR077	Mitral Valve Prolapse 2	26
2328		CMD005	Cimdag Syndrome	26
2329	c	CHD006	Chd2-Related Neurodevelopmental Disorders	26
2330		CRN268	Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis	26
2331	c	EPD124	Epidermolysis Bullosa, Junctional 5a, Intermediate	26
2332	c	MCR382	Microcephaly 26, Primary, Autosomal Dominant	25
2333	c	HTR018	Heterotaxy, Visceral, 7, Autosomal	25
2334	c	CHR565	Chromosomal Deletion Syndrome	25
2335		DFF022	Diffuse Neonatal Hemangiomatosis	25
2336		MNT256	Mental Retardation, Buenos Aires Type	25
2337		FCL046	Focal Facial Dermal Dysplasia 4	25
2338	c	HYP759	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	25
2339	c	ORF046	Orofaciodigital Syndrome Xvi	25
2340	c	FRN037	Frontal Encephalocele	25
2341	c	ORF025	Orofacial Cleft 6	25
2342	c	GLL045	Galloway-Mowat Syndrome 6	25
2343	c	ORF023	Orofacial Cleft 4	25
2344	c	GLL046	Galloway-Mowat Syndrome 7	25
2345		DFF027	Diffuse Lymphatic Malformation	25
2346		RNL039	Renal Dysplasia-Limb Defects Syndrome	25
2347	P	BLT016	Bilateral Polymicrogyria	25
2348		AXL004	Axial Mesodermal Dysplasia Spectrum	25
2349	c	BNM016	Bone Mineral Density Quantitative Trait Locus 1	25
2350	c	SYM019	Symphalangism, Proximal, 1b	25
2351		ATR053	Atresia of Urethra	25
2352		PRB002	Proboscis Lateralis	25
2353		UNL005	Unilateral Polymicrogyria	25
2354	c	CNG455	Congenital Aortopulmonary Window	25
2355		BRN129	Branchial Cleft Anomalies	25
2356	c	ORF051	Orofaciodigital Syndrome Xvii	25
2357	c	DMN045	Diamond-Blackfan Anemia-Like	25
2358		CHR416	Chromosome 17q Deletion	25
2359	c	GLL041	Galloway-Mowat Syndrome 4	25
2360		LRY028	Laryngocele	25
2361		NNG001	Non-Gestational Choriocarcinoma	25
2362		INV022	Inverted Duplicated Chromosome 15 Syndrome	25
2363	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	25
2364		ART037	Arthrogryposis and Ectodermal Dysplasia	24
2365	c	LYS031	Loeys-Dietz Syndrome 6	24
2366		IST007	Isotretinoin Embryopathy-Like Syndrome	24
2367	c	ORF047	Orofacial Cleft 15	24
2368	c	CCH010	Coach Syndrome 2	24
2369	P	VTM003	Vitamin Metabolic Disorder	24
2370		OST117	Osteomesopyknosis	24
2371		TTR019	Tetrasomy 5p	24
2372		HYP638	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	24
2373	c	ORF045	Orofaciodigital Syndrome Xv	24
2374		ATX037	Ataxia-Deafness-Retardation Syndrome	24
2375	c	DMN028	Diamond-Blackfan Anemia 12	24
2376		ANG066	Angel-Shaped Phalangoepiphyseal Dysplasia	24
2377	c	MCR243	Microcephaly 8, Primary, Autosomal Recessive	24
2378		SPL057	Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects	24
2379		CHR703	Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb	24
2380	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	23
2381	c	MYR005	Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1	23
2382		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	23
2383		LWR016	Lowry-Maclean Syndrome	23
2384	c	GLL053	Galloway-Mowat Syndrome 10	23
2385		CLV012	Clavicle, Pseudarthrosis of, Congenital	23
2386	c	BNM030	Bone Mineral Density Quantitative Trait Locus 16	23
2387	c	46X011	46, Xy Disorders of Sexual Development	23
2388	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	23
2389	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	23
2390	c	ORF016	Orofacial Cleft 8	23
2391	c	CRB209	Cerebellar Malformation	23
2392	c	ZMM003	Zimmermann-Laband Syndrome 2	23
2393		CRS011	Criss-Cross Heart	23
2394	P	ISL020	Isolated Microphthalmia	23
2395	c	CCH011	Coach Syndrome 3	23
2396		PLV015	Pelvis-Shoulder Dysplasia	23
2397		JNT004	Joint Laxity, Short Stature, and Myopia	23
2398		PLY135	Polydactyly, Postaxial, with Progressive Myopia	23
2399		ACR019	Acropectoral Syndrome	23
2400	c	GLL047	Galloway-Mowat Syndrome 8	23
2401		BRC020	Brachydactylous Dwarfism Mseleni Type	23
2402		NNG002	Non-Gestational Ovarian Choriocarcinoma	23
2403	c	DMN030	Diamond-Blackfan Anemia 13	23
2404	c	EPD125	Epidermolysis Bullosa, Junctional 6, with Pyloric Atresia	23
2405	c	MRT011	Martsolf Syndrome 2	22
2406	c	OST171	Osteopetrosis, Autosomal Dominant 3	22
2407		ANT065	Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis	22
2408	c	RNG021	Ring Chromosome 5	22
2409	P	ART034	Aortopulmonary Window	22
2410	c	HRN024	Horner Syndrome, Congenital	22
2411	c	ACQ004	Acquired Hemangioma	22
2412		FBR087	Fibromatosis, Gingival, with Distinctive Facies	22
2413		SCH025	Schisis Association	22
2414		CYN002	Cyanosis, Transient Neonatal	22
2415	c	HTR029	Heterotaxy, Visceral, 12, Autosomal	22
2416	c	PTT042	Pitt-Hopkins-Like Syndrome	22
2417		INT231	Intellectual Disability - Athetosis - Microphthalmia	22
2418		NTH002	Nathalie Syndrome	22
2419		CRT060	Cor Triatriatum Sinister	22
2420		VNT039	Ventriculomegaly and Arthrogryposis	22
2421	P	CNG326	Congenital Primary Megaureter	22
2422	c	PTN013	Patent Ductus Arteriosus 2	22
2423		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	22
2424	c	EPD122	Epidermolysis Bullosa, Junctional 3b, Severe	22
2425	c	MCR383	Microcephaly 27, Primary, Autosomal Dominant	22
2426	c	RNG012	Ring Chromosome 17	22
2427		CNG260	Congenital Enterovirus Infection	22
2428	c	PLY137	Polydactyly, Preaxial Iii	22
2429		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	22
2430	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	22
2431		ABN012	Abnormal Origin of Right or Left Pulmonary Artery from the Aorta	22
2432		CRN076	Crane-Heise Syndrome	22
2433		FBR101	Fibrous Dysplasia / Mccune-Albright Syndrome	22
2434	c	ZMM004	Zimmermann-Laband Syndrome 3	22
2435		CRT061	Cor Triatriatum Dexter	21
2436	c	ANG059	Angelman Syndrome Due to Imprinting Defect in 15q11-Q13	21
2437		ATK002	Atkin-Flaitz Syndrome	21
2438		THM006	Thumb Deformity, Alopecia, Pigmentation Anomaly	21
2439		CHR584	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb	21
2440		MSM019	Mesomelic Dysplasia, Savarirayan Type	21
2441	c	MTR083	Mitral Valve Prolapse 3	21
2442		FTL018	Fetal Indomethacin Syndrome	21
2443		TBT001	Tabatznik Syndrome	21
2444		PLM116	Pulmonary Artery Hypoplasia	21
2445		ACH039	Achalasia-Microcephaly Syndrome	21
2446	c	USH030	Usher Syndrome, Type Ik	21
2447	c	JVN025	Juvenile Primary Osteoporosis	21
2448		CNG519	Congenital Gerbode Defect	21
2449		PHK008	Phakomatosis Cesioflammea	21
2450	c	EPD120	Epidermolysis Bullosa, Junctional 2b, Severe	21
2451		MTC181	Mitochondrial Dna-Related Progressive External Ophthalmoplegia	21
2452		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	21
2453		CRB163	Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome	21
2454		FCC003	Faciocardiomelic Dysplasia, Lethal	21
2455	c	ORF039	Orofaciodigital Syndrome Vii	21
2456		SYN106	Syndromic Craniosynostosis	21
2457	c	MCR372	Microcephaly 25, Primary, Autosomal Recessive	21
2458		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	21
2459		PRN057	Porencephaly, Cerebellar Hypoplasia, and Internal Malformations	20
2460	c	DMN040	Diamond-Blackfan Anemia 16	20
2461		7P2001	7p22.1 Microduplication Syndrome	20
2462		PLY050	Polymicrogyria with Optic Nerve Hypoplasia	20
2463	c	ACR103	Acrofrontofacionasal Dysostosis 1	20
2464	c	LTN015	Late-Onset Junctional Epidermolysis Bullosa	20
2465	c	GLL052	Galloway-Mowat Syndrome 9	20
2466		PCH004	Pachygyria, Frontotemporal	20
2467		MCR304	Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs	20
2468		PLD002	Pilodental Dysplasia with Refractive Errors	20
2469	c	ACR108	Acrocephalopolysyndactyly Type Iv	20
2470	c	ORF049	Orofacial Cleft 3	20
2471		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	20
2472	c	ORF050	Orofacial Cleft 2	20
2473		PHV001	Phaver Syndrome	20
2474		MYC060	Mycophenolate Mofetil Embryopathy	20
2475		HMR016	Humeroradioulnar Synostosis	20
2476	c	MCR363	Microcephaly 23, Primary, Autosomal Recessive	20
2477	c	EPD121	Epidermolysis Bullosa, Junctional 3a, Intermediate	20
2478	c	HYD070	Hydrocephalus, Congenital Communicating, 1	20
2479		OMP008	Omphalocele-Cleft Palate Syndrome, Lethal	20
2480	c	DMN039	Diamond-Blackfan Anemia 17	20
2481		THR109	Thoracic Dysplasia-Hydrocephalus Syndrome	20
2482		UNL014	Unilateral Multicystic Dysplastic Kidney	20
2483		21Q001	21q22.11q22.12 Microdeletion Syndrome	20
2484		SCL051	Scalp Defects and Postaxial Polydactyly	20
2485		MCR311	Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome	20
2486	c	CMP088	Camptodactyly Syndrome, Guadalajara, Type Iii	20
2487	c	ANN021	Anencephaly 2	20
2488	c	DMN047	Diamond-Blackfan Anemia 18	20
2489		MCR305	Microcephaly with Cervical Spine Fusion Anomalies	19
2490		CLF042	Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease	19
2491	c	RNG014	Ring Chromosome 19	19
2492	c	EPD119	Epidermolysis Bullosa, Junctional 2a, Intermediate	19
2493		CRV063	Cervical Spina Bifida Aperta	19
2494		PHK006	Phakomatosis Pigmentokeratotica	19
2495	c	MCR368	Microcephaly 24, Primary, Autosomal Recessive	19
2496		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	19
2497		ISL154	Isolated Exencephaly	19
2498	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	19
2499		QDR002	Quadricuspid Aortic Valve	19
2500	c	MLG144	Malignant Hemangioma	19
2501		19P003	19p13.3 Microduplication Syndrome	19
2502	c	MCR391	Microcephaly 29, Primary, Autosomal Recessive	19
2503		MCR303	Macrosomia with Microphthalmia, Lethal	19
2504		NRN022	Neurenteric Cyst	19
2505		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	19
2506	c	MCR108	Microphthalmia, Isolated 7	19
2507	c	USH043	Usher Syndrome, Type Ih	19
2508		APH015	Aphalangy with Hemivertebrae	19
2509		CXR001	Coxoauricular Syndrome	19
2510		DFN312	Deafness, Congenital, with Vitiligo and Achalasia	19
2511		CNG609	Congenital Left Ventricular Aneurysm	19
2512	c	DMN050	Diamond-Blackfan Anemia 21	19
2513		DFN311	Deafness-Craniofacial Syndrome	18
2514		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	18
2515	c	DMN048	Diamond-Blackfan Anemia 19	18
2516		THR033	Thoracomelic Dysplasia	18
2517		LMB057	Lumbosacral Spina Bifida Aperta	18
2518	c	46X060	46,xx Disorder of Sex Development	18
2519	c	CNG578	Congenital Hemangioma	18
2520		SHR023	Short Stature Syndrome, Brussels Type	18
2521		ISL155	Isolated Anencephaly	18
2522	P	BMN001	Biemond Syndrome	18
2523		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	18
2524	c	HYD067	Hydatidiform Mole, Recurrent, 3	18
2525		CRN192	Craniorhiny	18
2526	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	18
2527		TRG007	Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet	18
2528	c	TTL009	Total Spina Bifida Aperta	18
2529		THY105	Thyrocerebroretinal Syndrome	18
2530	c	USH046	Usher Syndrome, Type 1m	18
2531		CRL002	Curly Hair-Acral Keratoderma-Caries Syndrome	18
2532	c	INT498	Intellectual Developmental Disorder, X-Linked, Syndromic 9	18
2533	c	MCR386	Microcephaly 28, Primary, Autosomal Recessive	18
2534		DYS049	Dysplastic Cortical Hyperostosis	18
2535		VTR017	Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency	18
2536		UMB001	Umbilical Cord Ulceration and Intestinal Atresia	18
2537		FML254	Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion	18
2538		CRV061	Cervicothoracic Spina Bifida Cystica	18
2539		THR084	Thoracolumbosacral Spina Bifida Cystica	18
2540		THR085	Thoracolumbosacral Spina Bifida Aperta	18
2541		TTR010	Tetramelic Monodactyly	18
2542		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	18
2543		PHC009	Phocomelia Ectrodactyly Deafness Sinus Arrhythmia	18
2544	c	HYD068	Hydatidiform Mole, Recurrent, 4	18
2545		ECT087	Ectodermal Dysplasia, Trichoodontoonychial Type	18
2546		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	18
2547		3P2001	3p25.3 Microdeletion Syndrome	18
2548		INF155	Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	17
2549		MCR042	Microbrachycephaly Ptosis Cleft Lip	17
2550		ACT206	Acitretin/etretinate Embryopathy	17
2551		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	17
2552		ESS005	Essential Iris Atrophy	17
2553		CMP077	Composite Hemangioendothelioma	17
2554		ISL133	Isolated Epispadias	17
2555		CNG330	Congenital Megacalycosis	17
2556		RTF001	Retiform Hemangioendothelioma	17
2557	c	SYN040	Synpolydactyly 3	17
2558	c	ORF031	Orofacial Cleft 14	17
2559		PLM045	Palmer Pagon Syndrome	17
2560	c	SX2003	Six2-Related Frontonasal Dysplasia	17
2561	P	CNG600	Congenital Arteriovenous Fistula	17
2562		ART091	Aorto-Ventricular Tunnel	17
2563	c	CNG621	Congenital Myasthenic Syndrome 7	17
2564		NPH082	Nephrosis with Deafness and Urinary Tract and Digital Malformations	17
2565		HYD055	Hydroxylysinuria	17
2566		RDL029	Radial Ray Hypoplasia with Choanal Atresia	17
2567	c	BNM031	Bone Mineral Density Quantitative Trait Locus 17	17
2568	c	ANM081	Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	17
2569		CRY037	Cryptophthalmia	17
2570		DST082	Distal Trisomy 10q	17
2571		MRF015	Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	17
2572		AZY001	Azygos Continuation of the Inferior Vena Cava	17
2573		MRF018	Marfanoid Habitus with Microcephaly and Glomerulonephritis	17
2574		WHT022	White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrom	17
2575	c	CNT108	Central Polydactyly	17
2576		VNB001	Van Benthem-Driessen-Hanveld Syndrome	17
2577		ODN008	Odontomicronychial Dysplasia	17
2578		CRN258	Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	17
2579		FRS011	First Branchial Cleft Anomaly	17
2580		LNG102	Long-Thumb Brachydactyly Syndrome	17
2581		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	16
2582		PLY086	Polyrrhinia	16
2583	c	GRN052	Grin2b-Related Neurodevelopmental Disorder	16
2584		HLL014	Hallux Varus and Preaxial Polysyndactyly	16
2585		ANR045	Aneurysm of Interventricular Septum	16
2586		IMM129	Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis	16
2587	c	ANG028	Angioma Serpiginosum, Autosomal Dominant	16
2588		CRN101	Craniosynostosis Philadelphia Type	16
2589		ECT016	Ectodermal Dysplasia Blindness	16
2590		ADR047	Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone	16
2591	c	JVN036	Juvenile Sialidosis Type 2	16
2592		ALG003	Al Gazali Aziz Salem Syndrome	16
2593		FXG002	Foxg1 Syndrome Due to 14q12 Microdeletion	16
2594	c	PRT113	Parietal Foramina 3	16
2595	c	PPP004	Ppp2r1a-Related Neurodevelopmental Disorder	16
2596		THR030	Thoraco Abdominal Enteric Duplication	16
2597		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	16
2598		ERL040	Early-Onset Sutural Cataract	16
2599		DND020	Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy	16
2600		HLL006	Halal Setton Wang Syndrome	16
2601		16P011	16p12.1p12.3 Triplication Syndrome	15
2602		BNK001	Banki Syndrome	15
2603		CMP079	Complete Septate Uterus	15
2604		APL011	Aplasia Cutis Myopia	15
2605		DFN300	Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome	15
2606		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	15
2607		CLF033	Cleft Mitral Valve	15
2608		TTH023	Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum	15
2609	c	RRD018	Rare Disease with Pierre Robin Syndrome	15
2610	c	ORF029	Orofacial Cleft 13	15
2611		ANM076	Anomalous Aortic Origin of the Right Coronary Artery	15
2612		BTT012	Battaglia-Neri Syndrome	15
2613		IDP017	Idiopathic Dilatation of the Pulmonary Artery	15
2614		PHL009	Phalangeal Microgeodic Syndrome	15
2615		ACR027	Acrodysplasia Scoliosis	15
2616		LRY030	Larynx Atresia	15
2617	c	ANG058	Angelman Syndrome Due to a Point Mutation	15
2618		EXS015	Exostoses with Anetodermia and Brachydactyly, Type E	15
2619		NGH023	Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	15
2620	c	SCN087	Scn3a-Related Neurodevelopmental Disorder	15
2621		CRN307	Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	14
2622		THM018	Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	14
2623		ACC011	Accessory Mitral Valve Tissue	14
2624		11P002	11p15.4 Microduplication Syndrome	14
2625		HYP660	Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	14
2626		CMP022	Camptodactyly Taurinuria	14
2627		BRC089	Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	14
2628		CMP098	Complex Vascular Malformation with Associated Anomalies	14
2629		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	14
2630		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
2631		PCH017	Pachygyria-Intellectual Disability-Epilepsy Syndrome	14
2632	c	ATS448	Autosomal Recessive Brachyolmia	14
2633	c	GLL043	Galloway-Mowat Syndrome 2	14
2634		ETH013	Euthyroid Graves Orbitopathy	14
2635		KLM001	Klumpke Paralysis	14
2636	c	CLC009	Clcn7-Related Osteopetrosis	14
2637		HYP482	Hyperinsulinism Due to Ucp2 Deficiency	14
2638		NND004	Non-Distal Monosomy 10q	14
2639		MDR001	Medeira-Dennis-Donnai Syndrome	14
2640		ANM075	Anomalous Aortic Origin of Coronary Artery	14
2641		CDL001	Caudal Appendage Deafness	14
2642		ANM077	Anomalous Aortic Origin of the Left Coronary Artery	14
2643		MCR285	Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	14
2644	c	ORF020	Orofacial Cleft 12	14
2645	c	HTR012	Heterotaxy, Visceral, 3, Autosomal	14
2646		SPN464	Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	13
2647	c	RRC022	Rare Chromosomal Anomaly	13
2648	c	ORF054	Orofaciodigital Syndrome Xix	13
2649		MCR367	Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	13
2650		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	13
2651	c	PLM183	Pulmonary Hypoplasia, Familial Primary	13
2652	c	MCR185	Macrodactyly of Toes	13
2653		MSC090	Mosaic Trisomy 3	13
2654		OST114	Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	13
2655	c	ORF024	Orofacial Cleft 9	13
2656		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	13
2657	c	SYN050	Syndactyly Type 6	13
2658		TRC057	Trichoodontoonychial Dysplasia	13
2659		ISL111	Isolated Arrhinia	13
2660		XLN145	X-Linked Intellectual Disability, Pai Type	13
2661		PRT087	Parietal Encephalocele	13
2662		ART097	Aorto-Left Ventricular Tunnel	13
2663		APD003	Apodia	13
2664	c	CNG253	Congenital Communicating Hydrocephalus	12
2665		MGC005	Megacystis-Megaureter Syndrome	12
2666		MCR357	Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	12
2667		HLP030	Holoprosencephaly-Caudal Dysgenesis Syndrome	12
2668		CRP029	Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	12
2669		MLH001	Melhem Fahl Syndrome	12
2670		LWR014	Lower Limb Hypertrophy	12
2671		XLN156	X-Linked Intellectual Disability, Golabi-Ito-Hall Type	12
2672	c	DSR027	Disorders of Vitamin D Metabolism	12
2673		INT227	Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	12
2674	c	HML041	Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction	12
2675		THN011	Thin Ribs-Tubular Bones-Dysmorphism Syndrome	12
2676		PRT111	Partial Septate Uterus	12
2677	c	RRH032	Rare Hemolytic Anemia	12
2678	P	ISL045	Isolated Focal Cortical Dysplasia Type I	12
2679	c	BNM021	Bone Mineral Density Quantitative Trait Locus 7	12
2680		ISL056	Isolated Lissencephaly Type 1 Without Known Genetic Defects	11
2681	c	ZYG007	Zygodactyly Type 3	11
2682		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	11
2683		SVR086	Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	11
2684		MSC130	Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	11
2685	c	BRN138	Branchiootorenal Spectrum Disorder	11
2686		CNG535	Congenital Brachyesophagus-Intrathoracic Stomach-Vertebral Anomalies Syndrome	11
2687	c	CNG405	Congenital Pulmonary Airway Malformation Type 4	11
2688	c	GNB002	Gnb5-Related Neurodevelopmental Disorder	11
2689	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	11
2690		CNG278	Congenital Pseudoarthrosis of the Radius	11
2691		FML329	Familial Caudal Dysgenesis	11
2692		HYP489	Hypotrichosis-Deafness Syndrome	11
2693	P	BFD004	Bifid Nose, Autosomal Dominant	11
2694		SBC038	Sub-Cortical Nodular Heterotopia	11
2695	c	HNR003	Hnrnpu-Related Neurodevelopmental Disorder	11
2696		HMR042	Humero-Ulnar Synostosis	11
2697		LCL024	Localized Dystrophic Epidermolysis Bullosa, Nails Only	11
2698		HYP852	Hypocalcemic Rickets	11
2699		DGS007	Digestive Duplication	11
2700	c	ISL040	Isolated Focal Cortical Dysplasia Type Ia	10
2701		CNG283	Congenital Pseudoarthrosis of the Femur	10
2702	c	ZYG005	Zygodactyly Type 4	10
2703	c	GRN056	Grin1-Related Neurodevelopmental Disorder	10
2704		TBF001	Tibio-Fibular Synostosis	10
2705		XLN147	X-Linked Intellectual Disability, Stoll Type	10
2706	c	HNR004	Hnrnph2-Related Neurodevelopmental Disorder	10
2707	c	ATN031	Atn1-Related Neurodevelopmental Disorder	10
2708		XLN207	X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome	10
2709	c	DDX004	Ddx3x-Related Neurodevelopmental Disorder	10
2710		MXL013	Maxillary Arteriovenous Malformation	10
2711		16Q002	16q24.1 Microdeletion Syndrome	10
2712		TRG018	Trigonocephaly-Broad Thumbs Syndrome	10
2713		DST084	Distal Trisomy 8q	10
2714		DVL026	Developmental Defect of the Eye	10
2715		FBL017	Fibular Dimelia-Diplopodia Syndrome	10
2716		NNS059	Non-Syndromic Limb Reduction Defect	10
2717		PLR014	Pleuro-Pericardial Cyst	10
2718		CLS027	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form	10
2719	c	BNM026	Bone Mineral Density Quantitative Trait Locus 12	10
2720		MLT171	Multiple Epiphyseal Dysplasia and Pseudoachondroplasia	9
2721	c	ACQ029	Acquired Porencephaly	9
2722	c	STD003	Setd1b-Related Neurodevelopmental Disorder	9
2723		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	9
2724		CNG359	Congenitally Uncorrected Transposition of the Great Arteries with Coarctation	9
2725	c	BNM017	Bone Mineral Density Quantitative Trait Locus 2	9
2726		GST021	Gestational Uterine Corpus Choriocarcinoma	9
2727		NNR005	Non-Rhizomelic Chondrodysplasia Punctata	9
2728		ISL058	Isolated Anencephaly/exencephaly	9
2729		TRF003	Traf7-Associated Heart Defect-Digital Anomalies-Facial Dysmorphism-Motor and Speech Delay Syndrome	9
2730		ART161	Aortic Malformation	9
2731	c	BNM024	Bone Mineral Density Quantitative Trait Locus 10	9
2732		ISL050	Isolated Dandy-Walker Malformation with Hydrocephalus	9
2733		NNS146	Non-Syndromic Unicoronal Craniosynostosis	9
2734		ISL028	Isolated Cerebellar Vermis Hypoplasia	9
2735	c	PPP002	Ppp2r5d-Related Neurodevelopmental Disorder	9
2736	c	LRP007	Lrp5-Related Primary Osteoporosis	9
2737		ISL022	Isolated Congenital Nasal Pyriform Aperture Stenosis	9
2738		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	8
2739		CNG334	Congenital Esophageal Diverticulum	8
2740	c	LRY051	Laryngotracheoesophageal Cleft Type 1	8
2741	c	BNM028	Bone Mineral Density Quantitative Trait Locus 14	8
2742	c	BNM027	Bone Mineral Density Quantitative Trait Locus 13	8
2743		CNG290	Congenital Absence of Both Lower Leg and Foot	8
2744	c	BNM019	Bone Mineral Density Quantitative Trait Locus 5	8
2745	c	BNM023	Bone Mineral Density Quantitative Trait Locus 9	8
2746		CRN073	Coronary Arteries Congenital Malformation	8
2747		SBR010	Subaortic Course of Innominate Vein	8
2748		ISL047	Isolated Unilateral Hemispheric Cerebellar Hypoplasia	8
2749	c	RRB006	Rare Bone Development Disorder	8
2750		NNS054	Non-Syndromic Postaxial Polydactyly	8
2751		SYN127	Syndromic Ectopia Lentis	8
2752		CMM016	Commissural Lip Fistula	7
2753	c	BNM020	Bone Mineral Density Quantitative Trait Locus 6	7
2754		2P1003	2p13.2 Microdeletion Syndrome	7
2755	c	BNM014	Bone Mineral Density Quantitative Trait Locus 4	7
2756	c	BNM025	Bone Mineral Density Quantitative Trait Locus 11	7
2757		CNG583	Congenital Urachal Anomaly	7
2758		PRM335	Primary Bone Dysplasia with Multiple Joint Dislocations	7
2759		PLM157	Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome	7
2760		NNS055	Non-Syndromic Preaxial Polydactyly	7
2761	c	BCK015	Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11	7
2762		ECT057	Ectasia of the Right Atrial Appendage	7
2763		DYS208	Dysostosis with Brachydactyly	7
2764		EPH004	Ephb4-Related Lymphatic-Related Hydrops Fetalis	7
2765		ISL034	Isolated Megalencephaly	7
2766		FTL049	Fetal Carbamazepine Syndrome	7
2767		4Q2002	4q25 Proximal Deletion Syndrome	7
2768		CNG107	Congenital Mitral Malformation	7
2769		PRN015	Perinatal Intestinal Perforation	7
2770	c	RRC006	Rare Acquired Hemolytic Anemia	7
2771	c	HML055	Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder	7
2772		ISL079	Isolated Encephalocele	7
2773	c	LSS018	Lissencephaly with Cerebellar Hypoplasia Type F	7
2774	c	LSS021	Lissencephaly with Cerebellar Hypoplasia Type a	7
2775		CNG351	Congenital Partial Pulmonary Venous Return Anomaly	7
2776		PRM320	Primary Bone Dysplasia with Micromelia	7
2777		DZX004<