Fetal Diseases Category (5254 diseases)

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

#	Family	MCID	Name	MIFTS
1		FTL028	Fetal Retinoid Syndrome	15
2	c	LYM144	Lymphatic Malformation 1	48
3	c	LYM145	Lymphatic Malformation 5	45
4	c	LYM150	Lymphatic Malformation 7	40
5	P	PRG092	Pregnancy Loss, Recurrent 1	40
6	P	RRL003	Rare Lymphatic Malformation	31
7	c	LYM147	Lymphatic Malformation 3	23
8	c	LYM148	Lymphatic Malformation 4	22
9	c	LYM146	Lymphatic Malformation 2	16
10	P	PRM252	Preimplantation Embryonic Lethality 1	21
11		TWN001	Twin-to-Twin Transfusion Syndrome	45
12		NCH001	Nuchal Bleb, Familial	24
13	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	43
14	c	FTL006	Fetal Alcohol Spectrum Disorder	43
15		EMB006	Embryonal Testis Carcinoma	31
16		PDT006	Pediatric Cns Embryonal Cell Carcinoma	8
17	P	EMB005	Embryonal Rhabdomyosarcoma	53
18		FTL004	Fetal Erythroblastosis	31
19	c	ADL007	Adult Central Nervous System Embryonal Carcinoma	7
20	c	FTL072	Fetal Akinesia Deformation Sequence 4	38
21	c	FTL070	Fetal Akinesia Deformation Sequence 2	36
22	c	FTL071	Fetal Akinesia Deformation Sequence 3	28
23		FTL066	Fetal Akinesia Syndrome, X-Linked	14
24		FTL011	Fetal Aminopterin Syndrome	11
25		ACT091	Acitretin Embryopathy	7
26		CHL153	Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified	5
27	P	PRS062	Persistent Hyperplastic Primary Vitreous	44
28		INT041	Intratubular Embryonal Carcinoma	25
29	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	24
30		DFN191	Deafness, Congenital Heart Defects, and Posterior Embryotoxon	20
31	c	PRM251	Preimplantation Embryonic Lethality 2	16
32	c	PRS137	Persistent Hyperplastic Primary Vitreous, Autosomal Dominant	11
33	c	CTR102	Cataract 2, Multiple Types	31
34		ORB002	Orbit Embryonal Rhabdomyosarcoma	30
35		PRS010	Prostate Embryonal Rhabdomyosarcoma	27
36		MTR016	Maternal Hyperphenylalaninemia	19
37	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	15
38		CRD031	Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification	8
39		VLV013	Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma	5
40		NNC014	Non-Central Nervous System-Localized Embryonal Carcinoma	5
41	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	51
42		GCH018	Gaucher Disease, Perinatal Lethal	41
43		EMB002	Embryoma	38
44		ALC001	Alcohol-Related Birth Defect	36
45		PRM208	Parameningeal Embryonal Rhabdomyosarcoma	28
46		PRT001	Partial Fetal Alcohol Syndrome	24
47		FTL021	Fetal Macrosomia	42
48	c	CTR132	Cataract 3, Multiple Types	41
49	P	LTH003	Lethal Congenital Contracture Syndrome	40
50	c	NML025	Nemaline Myopathy 8	36
51	c	LTH008	Lethal Congenital Contracture Syndrome 2	35
52	c	LTH026	Lethal Congenital Contracture Syndrome 4	34
53	c	LTH047	Lethal Congenital Contracture Syndrome 3	27
54	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	25
55	c	LTH039	Lethal Congenital Contracture Syndrome 11	24
56	c	LTH027	Lethal Congenital Contracture Syndrome 5	24
57	c	LTH029	Lethal Congenital Contracture Syndrome 9	23
58	c	LTH031	Lethal Congenital Contracture Syndrome 6	21
59		PRV001	Parovarian Cyst	21
60		FTL005	Fetal Adenoma	20
61	c	SYN073	Syngap1-Related Intellectual Disability	17
62	c	BCL018	Bcl11a-Related Intellectual Disability	15
63		CCN012	Cocaine Antenatal Exposure	14
64		NNT022	Neonatal Ovarian Cyst	14
65	c	RR2001	Ror2-Related Robinow Syndrome	13
66	c	CSK002	Cask-Related Intellectual Disability	13
67		HYD069	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism	11
68	P	FTL014	Fetal Brain Disruption Sequence	11
69	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	11
70	c	HVP001	Hivep2-Related Intellectual Disability	10
71	c	TRR002	Trio-Related Intellectual Disability	10
72	c	WCR002	Wac-Related Intellectual Disability	10
73	c	WDR002	Wdr26-Related Intellectual Disability	9
74	P	RRN017	Rare Intellectual Disability	9
75	c	ATS410	Autosomal Dominant Intellectual Disability 49	8
76	c	ATS360	Autosomal Recessive Intellectual Disability 58	8
77		CHL030	Childhood Botryoid Rhabdomyosarcoma	8
78		THY113	Thymic Aplasia with Fetal Death	8
79	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
80	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	7
81	c	ATS403	Autosomal Dominant Intellectual Disability 40	6
82	c	ATS348	Autosomal Dominant Intellectual Disability 30	5
83		RRG014	Rare Genetic Developmental Defect During Embryogenesis	5
84		MXD015	Mixed Type Rhabdomyosarcoma	5
85	c	SN3001	Sin3a-Related Intellectual Disability Syndrome	5
86		SMT021	Somatomedin, Embryonic	4
87	c	ACS002	Acsl4-Related Intellectual Disability	3
88	c	ARX002	Arx-Related Intellectual Disability	3
89	c	DDX001	Ddx3x-Related Intellectual Disability	3
90		FTL063	Fetal Nicotine Spectrum Disorder	3
91		FTL020	Fetal Left Ventricular Aneurysm	3
92		FTL017	Fetal Enterovirus Syndrome	2
93		FTL025	Fetal Parainfluenza Virus Type 3 Syndrome	1
94		FTL027	Fetal Phenothiazine Syndrome	1
95		KPS004	Kaposi Sarcoma	75
96		DWN001	Down Syndrome	70
97	P	OST001	Osteopetrosis	70
98	P	TRN020	Turner Syndrome	67
99	P	CNG001	Congenital Myasthenic Syndrome	66
100	P	LYS001	Loeys-Dietz Syndrome	65
101	P	CTS001	Cutis Laxa	65
102		RBR001	Roberts Syndrome	64
103		INC021	Incontinentia Pigmenti	63
104		CNT061	Conotruncal Heart Malformations	63
105	P	PTT014	Pitt-Hopkins Syndrome	63
106	P	ECT006	Ectodermal Dysplasia	62
107	c	PRX045	Peroxisome Biogenesis Disorder 1b	61
108	P	STS008	Sotos Syndrome 1	61
109		PTN001	Patent Foramen Ovale	60
110		CFF002	Coffin-Lowry Syndrome	60
111		OST024	Osteoporosis-Pseudoglioma Syndrome	60
112		KLP010	Klippel-Trenaunay-Weber Syndrome	59
113		WVR001	Weaver Syndrome	59
114	P	PLY006	Polydactyly	59
115	c	CLR131	Ciliary Dyskinesia, Primary, 1	59
116	P	SYP003	Syphilis	58
117		CSY001	C Syndrome	58
118	c	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	58
119		NWB001	Newborn Respiratory Distress Syndrome	58
120	P	VND007	Van Der Woude Syndrome 1	58
121		MBS002	Moebius Syndrome	57
122	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	57
123	c	PRX059	Peroxisome Biogenesis Disorder 1a	56
124	c	BRC078	Brachydactyly, Type A1	56
125	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	55
126		EBS001	Ebstein Anomaly	55
127		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	55
128	c	OST163	Osteopetrosis, Autosomal Recessive 3	55
129	P	FNG006	Feingold Syndrome 1	55
130		DXT001	Dextrocardia	55
131		CHR101	Char Syndrome	55
132		CLF004	Cleft Lip/palate	54
133		TRC062	Tricuspid Atresia	54
134	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	54
135		LTR009	Lateral Meningocele Syndrome	53
136	P	CRN276	Corneal Endothelial Dystrophy	52
137		MGL038	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	52
138	P	TRT010	Teratoma	52
139		KGM001	Kagami-Ogata Syndrome	51
140		OLG003	Oligohydramnios	51
141		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	51
142		BRN003	Branchiooculofacial Syndrome	51
143	P	HYP040	Hypospadias	51
144		INC018	Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia	51
145		CHR005	Chorioamnionitis	51
146	P	FRN012	Frontometaphyseal Dysplasia	50
147	c	OST126	Osteopetrosis, Autosomal Recessive 1	49
148		CHN065	Choanal Atresia, Posterior	49
149	c	VNM003	Van Maldergem Syndrome 1	48
150		PLC007	Placental Abruption	48
151		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	47
152		CLF056	Cleft Lip with or Without Cleft Palate	47
153		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	47
154	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	47
155		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	47
156	P	CRC039	Coarctation of Aorta	47
157	c	OPT051	Opitz Gbbb Syndrome, Type I	47
158	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	46
159	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	46
160		CHR492	Chromosome 13q14 Deletion Syndrome	46
161	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	46
162		PLY012	Polyhydramnios	46
163		HYP231	Hypothalamic Hamartomas	46
164		CHR543	Chromosome 2q37 Deletion Syndrome	46
165	P	PRX021	Proximal Symphalangism	46
166	P	PRT042	Parietal Foramina	46
167		PLC001	Placenta Accreta	46
168	c	OST137	Osteopetrosis, Autosomal Recessive 4	45
169		ACR012	Aicardi Syndrome	45
170		JNT004	Joint Laxity, Short Stature, and Myopia	45
171	P	CMM008	Communicating Hydrocephalus	45
172	c	PNT036	Pontocerebellar Hypoplasia, Type 6	45
173	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	45
174	c	XFP001	Xfe Progeroid Syndrome	45
175	c	OST120	Osteopetrosis, Autosomal Recessive 5	45
176		ISL121	Isolated Split Hand-Split Foot Malformation	45
177		MLC004	Mulchandani-Bhoj-Conlin Syndrome	44
178	c	ATS393	Autosomal Recessive Cutis Laxa Type I	44
179	c	OST129	Osteopetrosis, Autosomal Recessive 2	44
180		CTY001	Cat Eye Syndrome	44
181		MCR173	Microform Holoprosencephaly	44
182		NNC002	Nance-Horan Syndrome	44
183		MCR096	Macrocephaly/autism Syndrome	44
184	c	RNG023	Ring Chromosome 7	44
185	c	ORT011	Orthostatic Hypotension 1	44
186		FNT005	Fontaine Progeroid Syndrome	44
187	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	43
188	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	43
189	c	MLG081	Malignant Teratoma	43
190	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	43
191		LBR025	Lobar Holoprosencephaly	43
192		KPS002	Kaposiform Hemangioendothelioma	43
193		OLV004	Oliver-Mcfarlane Syndrome	43
194	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	43
195	c	MNT319	Mental Retardation, Autosomal Dominant 20	42
196		BNB002	Bainbridge-Ropers Syndrome	42
197	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	41
198	c	PST041	Posterior Urethral Valves	41
199	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	41
200	c	SCN006	Secondary Syphilis	40
201	c	FRN049	Frontometaphyseal Dysplasia 1	40
202	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	40
203	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	40
204	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	40
205		MDL020	Midline Interhemispheric Variant of Holoprosencephaly	40
206	c	MYS052	Myasthenic Syndrome, Congenital, 10	40
207		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	40
208	c	CNG033	Congenital Syphilis	40
209	c	MYS078	Myasthenic Syndrome, Congenital, 14	39
210		PLC009	Placenta Praevia	39
211	c	CTR130	Cataract 9, Multiple Types	39
212		DXT002	Dextrocardia with Situs Inversus	39
213		48X005	48,xyyy	39
214		THR017	Thoracoabdominal Syndrome	39
215	c	MYS075	Myasthenic Syndrome, Congenital, 13	39
216	P	MNN007	Meningocele	39
217		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	39
218		CHR518	Chromosome 9p Deletion Syndrome	38
219		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	38
220	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	38
221	c	CTS041	Cutis Laxa, Autosomal Dominant 3	38
222		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	38
223	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	38
224		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	37
225		RVL002	Ruvalcaba Syndrome	37
226	P	OMD003	Omodysplasia	37
227	c	BNG093	Benign Teratoma	37
228		HMM004	Hamamy Syndrome	37
229	c	VNM002	Van Maldergem Syndrome 2	37
230		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	37
231	c	PRX063	Peroxisome Biogenesis Disorder 2a	36
232	c	MYS074	Myasthenic Syndrome, Congenital, 12	36
233	c	SCK029	Seckel Syndrome 7	36
234	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	36
235	c	MYS056	Myasthenic Syndrome, Congenital, 17	36
236		PLY036	Polyembryoma	36
237		CHR501	Chromosome 17q12 Deletion Syndrome	36
238	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	36
239	c	PRX055	Peroxisome Biogenesis Disorder 11a	36
240	c	MYS067	Myasthenic Syndrome, Congenital, 22	36
241	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	35
242	c	OST106	Osteopetrosis, Autosomal Recessive 8	35
243	c	FRN048	Frontometaphyseal Dysplasia 2	35
244		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	35
245		OCL076	Oculopharyngodistal Myopathy 1	35
246	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	35
247	c	MYS076	Myasthenic Syndrome, Congenital, 8	35
248	P	MXD016	Mixed Gonadal Dysgenesis	35
249	c	MNS014	Monosomy 22	35
250	c	PRT059	Parietal Foramina 1	34
251	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	34
252	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	34
253	c	MYS070	Myasthenic Syndrome, Congenital, 19	34
254	c	MCR252	Microphthalmia, Syndromic 5	34
255	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	34
256		EMN001	Emanuel Syndrome	34
257		FCL090	Facial Cleft	34
258	c	PRX060	Peroxisome Biogenesis Disorder 5a	34
259	c	RNG020	Ring Chromosome 4	33
260	c	ADL057	Adult Teratoma	33
261	P	ACR072	Acrorenal Syndrome	33
262		FLP001	Filippi Syndrome	33
263	c	45X001	45,x/46,xy Mixed Gonadal Dysgenesis	33
264		ZTT001	Zttk Syndrome	33
265		WTT002	Witteveen-Kolk Syndrome	33
266	c	SYM022	Symphalangism, Proximal, 1a	33
267		CHR523	Chromosome 15q11.2 Deletion Syndrome	33
268	c	PRX051	Peroxisome Biogenesis Disorder 6a	33
269		PRT049	Partial Deletion of Y	33
270		PRG023	Progeroid Short Stature with Pigmented Nevi	33
271		BRN133	Bronchomalacia	33
272	c	BRC099	Brachydactyly, Type A4	32
273		MTP028	Metaphyseal Dysplasia, Spahr Type	32
274	c	PRX054	Peroxisome Biogenesis Disorder 12a	32
275	P	SCL047	Sclerocornea	32
276		SPN012	Spindle Cell Hemangioma	32
277	c	LTC001	Late Congenital Syphilis	32
278	c	46X071	46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect	32
279	c	MYS064	Myasthenic Syndrome, Congenital, 16	32
280	P	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	32
281		TRC035	Tracheal Agenesis	31
282	c	PRX057	Peroxisome Biogenesis Disorder 4a	31
283	c	MYS065	Myasthenic Syndrome, Congenital, 18	31
284		48X003	48,xxyy Syndrome	31
285	c	SYN060	Syndactyly, Type Iii	31
286		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	31
287		SDD002	Sudden Infant Death with Dysgenesis of the Testes Syndrome	31
288		CDL005	Caudal Duplication Anomaly	31
289		OCL033	Oculocerebral Syndrome with Hypopigmentation	31
290		INF021	Infant Gynecomastia	31
291	c	RNG008	Ring Chromosome 13	31
292	c	PRX048	Peroxisome Biogenesis Disorder 10a	31
293	c	PRM022	Primary Syphilis	31
294	c	PRT060	Parietal Foramina 2	31
295	c	PRX065	Peroxisome Biogenesis Disorder 3a	30
296	c	ART131	Arthrogryposis, Distal, Type 4	30
297		ANR010	Aneurysm of Sinus of Valsalva	30
298	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	30
299		PLM058	Pulmonary Atresia with Intact Ventricular Septum	30
300	c	SYN061	Syndactyly, Type Iv	30
301		MSC021	Mosaic Trisomy 9	30
302	c	RNG018	Ring Chromosome 22	30
303	P	MTR051	Maternal Uniparental Disomy of Chromosome 1	30
304	c	PRX050	Peroxisome Biogenesis Disorder 9b	30
305		AML065	Amelia	30
306		PYR018	Pyruvate Dehydrogenase Phosphatase Deficiency	30
307	c	CTS031	Cutis Laxa, Autosomal Dominant 2	30
308		DGT009	Digitotalar Dysmorphism	29
309	c	PRX046	Peroxisome Biogenesis Disorder 7a	29
310	P	VNM004	Van Maldergem Syndrome	29
311	P	ACR106	Acrocephalopolysyndactyly Type Iii	29
312	c	VNT028	Ventricular Septal Defect 1	29
313		ART158	Arthrogryposis Multiplex Congenita, Myogenic Type	29
314		CNG437	Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay	29
315	c	RNG005	Ring Chromosome 10	29
316	c	PRX043	Peroxisome Biogenesis Disorder 6b	29
317		SKR001	Skraban-Deardorff Syndrome	29
318	c	HYD040	Hydrolethalus Syndrome 2	29
319		MCR321	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation	29
320		CRN264	Craniosynostosis with Fibular Aplasia	29
321	c	CLR134	Ciliary Dyskinesia, Primary, 3	29
322		CHR399	Chromosome 4q21 Deletion Syndrome	29
323	P	PRG139	Progeroid Syndrome	28
324		TTR023	Tetraamelia-Multiple Malformations Syndrome	28
325		WLD004	Wildervanck Syndrome	28
326		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	28
327		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	28
328		UVL009	Uvula, Bifid	28
329		NNT005	Neonatal Candidiasis	28
330		CHR229	Chromosome 20p Duplication	28
331		HYP728	Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia	28
332		CHR265	Chromosome 8p Duplication	28
333	c	MYS077	Myasthenic Syndrome, Congenital, 15	27
334	c	PRX091	Peroxisome Biogenesis Disorder 8a	27
335	c	PRX052	Peroxisome Biogenesis Disorder 13a	27
336	P	TRS029	Trisomy 1q	27
337		CHR268	Chromosome 8q Duplication	27
338		48X001	48, Xxxx	27
339		CHR588	Chromosome 8q22.1 Duplication Syndrome	27
340	c	PRX053	Peroxisome Biogenesis Disorder 14b	27
341	c	PRX058	Peroxisome Biogenesis Disorder 4b	27
342	c	RNG007	Ring Chromosome 12	27
343		FMR016	Femur-Fibula-Ulna Syndrome	27
344	c	PRX047	Peroxisome Biogenesis Disorder 5b	27
345		MYM012	Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism	27
346		CLF046	Cleft Lip/palate with Abnormal Thumbs and Microcephaly	27
347		RCM003	Recombinant Chromosome 8 Syndrome	27
348		CHR010	Chorioangioma	27
349	P	ACR093	Acrofrontofacionasal Dysostosis	27
350		ECT089	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia	27
351		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	27
352		ASS004	Aase-Smith Syndrome I	27
353		MSC016	Mosaic Trisomy 14	26
354	c	RNG015	Ring Chromosome 2	26
355	c	ORT012	Orthostatic Hypotension 2	26
356	c	ACQ029	Acquired Porencephaly	26
357		HYP180	Hypertrichosis Lanuginosa Congenita	26
358	P	RCR026	Recurrent Hydatidiform Mole	26
359		HMF010	Hemifacial Microsomia with Radial Defects	26
360		BLP041	Blepharochalasis and Double Lip	26
361		CRT028	Cor Triatriatum	26
362	P	PRX064	Peroxisome Biogenesis Disorder 2b	26
363	P	PST016	Posterior Polar Cataract	26
364		CDG001	Cdags Syndrome	26
365		PGD001	Pagod Syndrome	26
366		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	26
367	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	26
368	c	PRX066	Peroxisome Biogenesis Disorder 3b	26
369		CHR621	Chromosome 16p11.2 Deletion Syndrome, 593-Kb	26
370		HRD037	Hardikar Syndrome	26
371		PNL023	Penile Agenesis	25
372	c	ACQ027	Acquired Cutis Laxa	25
373		CHR212	Chromosome 18p Duplication	25
374	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	25
375	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	25
376	c	PTN012	Patent Ductus Arteriosus 3	25
377	P	PRM227	Primary Orthostatic Hypotension	25
378	c	TRS012	Trisomy 22	25
379	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	25
380		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	25
381		CMP097	Complex Chromosomal Rearrangement	25
382	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	25
383	c	FNG009	Feingold Syndrome 2	25
384	c	PRX062	Peroxisome Biogenesis Disorder 8b	25
385	c	PRX056	Peroxisome Biogenesis Disorder 11b	25
386	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	25
387	c	ERL002	Early Congenital Syphilis	25
388		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	25
389		CHR252	Chromosome 5p Duplication	24
390	c	RNG017	Ring Chromosome 21	24
391	c	SYM019	Symphalangism, Proximal, 1b	24
392	c	VND004	Van Der Woude Syndrome 2	24
393		MCR067	Microcoria, Congenital	24
394	c	CLR090	Ciliary Dyskinesia, Primary, 22	24
395	c	PRX068	Peroxisome Biogenesis Disorder 7b	24
396		BCR002	Bicornuate Uterus	24
397	c	LTB003	Ltbp4-Related Cutis Laxa	24
398		DFF022	Diffuse Neonatal Hemangiomatosis	24
399	P	UNP013	Uniparental Disomy of Chromosome 1	24
400	c	ATS451	Autosomal Recessive Cutis Laxa Type 2	24
401		INT337	Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies	23
402		BRN129	Branchial Cleft Anomalies	23
403		ACR101	Acrocraniofacial Dysostosis	23
404	c	ACR103	Acrofrontofacionasal Dysostosis 1	23
405		PRT091	Partial Cryptophthalmia	23
406	c	ACR105	Acrofrontofacionasal Dysostosis 2	23
407		RGH006	Right Aortic Arch	23
408		ADD006	Adducted Thumbs Syndrome	23
409	P	SPN236	Spina Bifida Cystica	23
410		HYP212	Hypomandibular Faciocranial Dysostosis	23
411		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	23
412		FCC002	Faciocardiorenal Syndrome	23
413		CHR610	Chromosome 10q22.3-Q23.2 Deletion Syndrome	23
414	P	SYN140	Syndrome with 46,xy Disorder of Sex Development	23
415	c	EFM001	Efemp2-Related Cutis Laxa	23
416		CMP104	Complete Atrioventricular Septal Defect with Ventricular Hypoplasia	23
417	c	HYD041	Hydatidiform Mole, Recurrent, 2	23
418	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	23
419	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	23
420		SCH031	Scholte Syndrome	22
421		TTR021	Tetrasomy 21	22
422		SYM024	Symphalangism, Distal	22
423	c	INT005	Intermediate Malignant Teratoma	22
424		2Q3005	2q31.1 Microdeletion Syndrome	22
425		PLY135	Polydactyly, Postaxial, with Progressive Myopia	22
426		8PN001	8p Inverted Duplication/deletion Syndrome	22
427	c	PTN013	Patent Ductus Arteriosus 2	22
428		HFN001	Hao-Fountain Syndrome	22
429		LMB014	Limb-Body Wall Complex	22
430		INT231	Intellectual Disability - Athetosis - Microphthalmia	22
431	c	OST171	Osteopetrosis, Autosomal Dominant 3	21
432		ORB019	Orbital Margin, Hypoplasia of	21
433		HMH003	Hemihyperplasia-Multiple Lipomatosis Syndrome	21
434		MSM019	Mesomelic Dysplasia, Savarirayan Type	21
435	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	21
436		MSL005	Mseleni Joint Disease	21
437	c	PLY137	Polydactyly, Preaxial Iii	21
438		ACR019	Acropectoral Syndrome	21
439	c	PSD047	Pseudo-Turner Syndrome	21
440	c	ANT087	Anterior Segment Dysgenesis 6	21
441		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	21
442		MLT173	Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability	21
443		ULN005	Ulna and Fibula, Hypoplasia of	21
444		CLV012	Clavicle, Pseudarthrosis of, Congenital	21
445		XQ2003	Xq25 Duplication Syndrome	21
446		CHR368	Chromosome Xp11.23-P11.22 Duplication Syndrome	21
447		CHR507	Chromosome Xq27.3-Q28 Duplication Syndrome	21
448		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	21
449	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	21
450		CRN076	Crane-Heise Syndrome	20
451		PLM116	Pulmonary Artery Hypoplasia	20
452		ANM074	Anomalous Origin of Coronary Artery from the Pulmonary Artery	20
453		ECT085	Ectopia Cordis	20
454		CRT061	Cor Triatriatum Dexter	20
455		DST037	Distal Monosomy 9p	20
456	c	MNS011	Monosomy 9q22.3	20
457		DPL007	Duplication of Urethra	20
458		DST044	Distal Trisomy 14q	20
459	c	PRX089	Peroxisome Biogenesis Disorder 10b	20
460		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	19
461	c	RNG012	Ring Chromosome 17	19
462		SBR011	Subaortic Stenosis--Short Stature Syndrome	19
463	c	ATS454	Autosomal Trisomy	19
464		CRB161	Cerebellar Ataxia and Ectodermal Dysplasia	19
465	P	CNG070	Congenital Dislocation of the Patella	19
466		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	19
467		CHR182	Chromosome 10p Duplication	19
468		SMM003	Summitt Syndrome	19
469		CHR584	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb	19
470		19P001	19p13.12 Microdeletion Syndrome	19
471	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	19
472		PLD002	Pilodental Dysplasia with Refractive Errors	19
473		NSL017	Nasolacrimal Duct Cyst	19
474		MLT148	Multiple Pterygium Syndrome, X-Linked	19
475		XLN232	X-Linked Alport Syndrome-Diffuse Leiomyomatosis	19
476	c	RNG006	Ring Chromosome 11	19
477	c	ACR108	Acrocephalopolysyndactyly Type Iv	19
478		DST045	Distal Trisomy 6p	19
479	c	FBL003	Fbln5-Related Cutis Laxa	19
480	c	STS009	Sotos Syndrome 3	18
481		CRV063	Cervical Spina Bifida Aperta	18
482		NSL020	Nasal Glial Heterotopia	18
483		MSC019	Mosaic Trisomy 7	18
484		SCL051	Scalp Defects and Postaxial Polydactyly	18
485		OMP008	Omphalocele-Cleft Palate Syndrome, Lethal	18
486		KNS006	Kniest-Like Dysplasia, Lethal	18
487	c	UNP012	Uniparental Disomy of Chromosome 7	18
488		MSC081	Mosaic Trisomy 15	18
489		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	18
490		ORM001	Oro-Mandibular-Limb Hypogenesis Syndrome	18
491		CNG284	Congenital Pseudoarthrosis of the Tibia	18
492		NNR005	Non-Rhizomelic Chondrodysplasia Punctata	18
493		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	18
494	c	ECT114	Ectodermal Dysplasia 10b	18
495		MCD004	Macdermot-Winter Syndrome	18
496		21Q001	21q22.11q22.12 Microdeletion Syndrome	18
497	c	ERL044	Early-Onset Posterior Polar Cataract	18
498		BLT023	Bilateral Acute Depigmentation of the Iris	18
499		BLP042	Blepharoptosis, Myopia, and Ectopia Lentis	18
500		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	18
501		FRY007	Fryns Macrocephaly	18
502		CRN224	Craniofaciofrontodigital Syndrome	18
503		PLY088	Polyvalvular Heart Disease Syndrome	18
504		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	18
505		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	18
506		INV022	Inverted Duplicated Chromosome 15 Syndrome	18
507		FCL064	Facial Dysmorphism with Multiple Malformations	17
508		PLY133	Polysyndactyly with Cardiac Malformation	17
509		EPB002	Epiblepharon	17
510	c	MTR062	Maternal Uniparental Disomy of Chromosome 4	17
511		CXR001	Coxoauricular Syndrome	17
512		DYS180	Dyschondrosteosis and Nephritis	17
513	c	SYN040	Synpolydactyly 3	17
514		1QD001	1q Duplications	17
515		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	17
516		ABS016	Absence of the Pulmonary Artery	17
517		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	17
518		GND012	Gonadal Dysgenesis, Xy Type, with Associated Anomalies	17
519	c	TTL009	Total Spina Bifida Aperta	17
520		CNG108	Congenital Mitral Stenosis	17
521		PLM067	Pulmonary Valves Agenesis	17
522		DPH023	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull	17
523	c	PST077	Posterior Meningocele	17
524		DST069	Distal Monosomy 12q	17
525		THR033	Thoracomelic Dysplasia	17
526		SXC007	Sex-Chromosome Anomaly	17
527	c	MTR063	Maternal Uniparental Disomy of Chromosome 2	17
528		SPN353	Spondylometaphyseal Dysplasia, X-Linked	17
529		KMM002	Kommerell Diverticulum	16
530	c	MTR061	Maternal Uniparental Disomy of Chromosome 6	16
531	c	CMP088	Camptodactyly Syndrome, Guadalajara, Type Iii	16
532		TRS011	Trisomy 2 Mosaicism	16
533		14Q001	14q12 Microdeletion Syndrome	16
534		HYD051	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis	16
535		DYS049	Dysplastic Cortical Hyperostosis	16
536		CRV066	Cervical Aortic Arch	16
537		PLM065	Pulmonary Supravalvular Stenosis	16
538		PRN057	Porencephaly, Cerebellar Hypoplasia, and Internal Malformations	16
539		MCR358	Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	16
540	c	UNP011	Uniparental Disomy of Chromosome 14	16
541		ALB022	Albinism-Microcephaly-Digital Anomalies Syndrome	16
542	c	HYD068	Hydatidiform Mole, Recurrent, 4	16
543		PTN009	Patent Urachus	16
544		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	16
545		CLD006	Cleidorhizomelic Syndrome	16
546		49X005	49, Xxxyy Syndrome	16
547		CMP016	Camptobrachydactyly	16
548	c	PST093	Posterior Hypospadias	16
549	c	PRT113	Parietal Foramina 3	16
550		LRS009	Larsen-Like Syndrome, Lethal Type	16
551		MRF018	Marfanoid Habitus with Microcephaly and Glomerulonephritis	16
552		NNS061	Non-Syndromic Pontocerebellar Hypoplasia	16
553		6Q1002	6q16 Microdeletion Syndrome	16
554	c	ISC010	Isochromosome Yp	16
555	c	CHR180	Chromosome 10, Uniparental Disomy	16
556		8P1001	8p11.2 Deletion Syndrome	15
557	c	CNT108	Central Polydactyly	15
558		11Q001	11q22.2q22.3 Microdeletion Syndrome	15
559		20P002	20p13 Microdeletion Syndrome	15
560		XP2002	Xp22.13p22.2 Duplication Syndrome	15
561		MDL016	Midline Cervical Cleft	15
562		TRM028	Terminal Transverse Limb Defect	15
563		5Q3002	5q31.3 Microdeletion Syndrome	15
564		CYS047	Cystic Fibrosis, Modifier of, 1	15
565	c	HYD070	Hydrocephalus, Congenital Communicating, 1	15
566		EXT058	Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly	15
567		DST038	Distal Monosomy 7q36	15
568		DSP003	Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	15
569		49X004	49,xyyyy Syndrome	15
570		RDL028	Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema	15
571		20P001	20p12.3 Microdeletion Syndrome	15
572		PRR030	Pierre Robin Sequence with Facial and Digital Anomalies	15
573	c	UNP008	Uniparental Disomy of Chromosome 15	15
574	c	RNG031	Ring Chromosome Y Syndrome	15
575		CNS012	Cono-Spondylar Dysplasia	15
576	P	ISL029	Isolated Anorectal Malformation	15
577	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	15
578		ESP040	Esophageal Duplication Cyst	15
579	c	CLC009	Clcn7-Related Osteopetrosis	15
580	c	SX2003	Six2-Related Frontonasal Dysplasia	15
581		TRN046	Transverse Vaginal Septum	15
582		PHK006	Phakomatosis Pigmentokeratotica	14
583	c	UNP007	Uniparental Disomy of Chromosome 6	14
584		6P2001	6p22 Microdeletion Syndrome	14
585		16P011	16p12.1p12.3 Triplication Syndrome	14
586		PRT161	Partial Deletion of the Short Arm of Chromosome 3	14
587		19P003	19p13.3 Microduplication Syndrome	14
588		CMP103	Complete Atrioventricular Septal Defect-Tetralogy of Fallot	14
589		PSD091	Pseudounicornuate Uterus	14
590		MNS013	Monosomy 13q34	14
591	c	HYP545	Hypospadias 3, Autosomal	14
592	c	MTR060	Maternal Uniparental Disomy of Chromosome 9	14
593		HLL014	Hallux Varus and Preaxial Polysyndactyly	14
594		MSC078	Mosaic Trisomy 17	14
595		PRS111	Persistent Fifth Aortic Arch	14
596		PST111	Posterior Fossa Malformation	14
597		16P005	16p11.2p12.2 Microduplication Syndrome	14
598		PRT165	Partial Deletion of the Short Arm of Chromosome 7	14
599		20Q001	20q13.33 Microdeletion Syndrome	14
600		FRT004	Fourth Branchial Cleft Anomaly	13
601		10Q002	10q22.3q23.3 Microduplication Syndrome	13
602	P	LRY049	Laryngotracheoesophageal Cleft Type 4	13
603		RCT033	Rectal Duplication	13
604		PRM238	Primary Intralymphatic Angioendothelioma	13
605		ATX036	Ataxia-Photosensitivity-Short Stature Syndrome	13
606	c	CHN027	Chondrodysplasia Lethal Recessive	13
607		ATL016	Atelencephaly	13
608		CHR188	Chromosome 11q Duplication	13
609	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	13
610		SYM015	Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers	13
611		NND003	Non-Distal Trisomy 10q	13
612		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	13
613		CNG241	Congenital Laryngeal Palsy	13
614		CRN087	Craniomicromelic Syndrome	13
615	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	13
616	P	ANT062	Anterior Urethral Valve	13
617		PRT087	Parietal Encephalocele	13
618		DST052	Distal 7q11.23 Microduplication Syndrome	13
619		BLT009	Bilateral Generalized Polymicrogyria	13
620		CRN310	Cranial Malformation	13
621		DST079	Distal Trisomy 5q	13
622		FNG014	Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature	13
623	c	UNP003	Uniparental Disomy of Chromosome 11	12
624		CNG587	Congenital Limb Malformation	12
625		CNG519	Congenital Gerbode Defect	12
626		PRC041	Pericardial and Diaphragmatic Defect	12
627		MTR084	Maternal Hyperthermia-Induced Birth Defects	12
628		XSM001	X Small Rings	12
629		9Q3001	9q31.1q31.3 Microdeletion Syndrome	12
630		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	12
631	c	CNG253	Congenital Communicating Hydrocephalus	12
632		CNG235	Congenital Microgastria	12
633		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	12
634		INT294	Intellectual Disability-Short Stature-Hypertelorism Syndrome	12
635	c	TRS033	Trisomy 18-Like Syndrome	12
636		LTR017	Lateral Facial Cleft	12
637		ANN018	Anonychia, Total, with Microcephaly	12
638	c	CRN068	Corneal Endothelial Dystrophy Type 2	12
639		IDP062	Idiopathic Syringomyelia	12
640		CNG335	Congenital Ectropion Uveae	12
641		CLF040	Cleft Lip-Retinopathy Syndrome	12
642		ANM075	Anomalous Aortic Origin of Coronary Artery	12
643		MSC090	Mosaic Trisomy 3	12
644		LFT022	Left Sided Atrial Isomerism	12
645		ERL036	Early-Onset Posterior Subcapsular Cataract	12
646		DST071	Distal Monosomy 19p13.3	12
647		SXC004	Sex Chromosome Disorder of Sex Development	12
648		MND008	Mandibular Arteriovenous Malformation	12
649		LWR017	Lower Limb Malformation-Hypospadias Syndrome	12
650		ACH028	Acheiria	12
651	c	SCL053	Sclerocornea, Autosomal Dominant	12
652		PRT213	Partial Duplication of Chromosome 19	12
653		UNL006	Unilateral Focal Polymicrogyria	12
654		HYP852	Hypocalcemic Rickets	12
655		CRN194	Cranial Meningocele	11
656		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	11
657		CNG282	Congenital Knee Dislocation	11
658		XLN142	X-Linked Intellectual Disability, Stevenson Type	11
659		MGC005	Megacystis-Megaureter Syndrome	11
660	c	UNP004	Uniparental Disomy of Chromosome 2	11
661		TNN014	Tunnel Subaortic Stenosis	11
662		PRT200	Partial Duplication of the Long Arm of Chromosome 2	11
663		SVR086	Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	11
664		DPL010	Duplication of the Esophagus	11
665	c	ISL040	Isolated Focal Cortical Dysplasia Type Ia	11
666		MSC084	Mosaic Genome-Wide Paternal Uniparental Disomy	11
667	c	ZYG005	Zygodactyly Type 4	10
668		ABN012	Abnormal Origin of Right or Left Pulmonary Artery from the Aorta	10
669		PRT215	Partial Duplication of the Short Arm of Chromosome 2	10
670		CNG279	Congenital Pseudoarthrosis of the Ulna	10
671		CNG277	Congenital Pseudoarthrosis of the Fibula	10
672		ISL154	Isolated Exencephaly	10
673		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	10
674		INT248	Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	10
675		PRT204	Partial Duplication of the Long Arm of Chromosome 4	10
676		PRT138	Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	10
677		LWR014	Lower Limb Hypertrophy	10
678		PRT111	Partial Septate Uterus	10
679	c	ATS065	Autosomal Dominant Coarctation of Aorta	10
680		PRT144	Partial Deletion of Chromosome 2	10
681	c	PTR015	Paternal Uniparental Disomy of Chromosome X	10
682		PRT160	Partial Deletion of the Short Arm of Chromosome 4	10
683		PRM302	Paramedian Facial Cleft	10
684	c	PTL011	Patella, Familial Recurrent Dislocation of	10
685	c	CHR232	Chromosome 21, Uniparental Disomy	10
686		4P1001	4p16.3 Microduplication Syndrome	10
687	c	ERL039	Early-Onset Anterior Polar Cataract	10
688		DST089	Distal Trisomy 3p	10
689		XLN147	X-Linked Intellectual Disability, Stoll Type	10
690		MLH001	Melhem Fahl Syndrome	10
691		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	10
692		DST078	Distal Trisomy 6q	10
693	c	PTR019	Paternal Uniparental Disomy of Chromosome 5	9
694		ART161	Aortic Malformation	9
695		BLR023	Biliary Atresia with Splenic Malformation Syndrome	9
696	P	PRT196	Partial Trisomy of the Long Arm of Chromosome 16	9
697		APD003	Apodia	9
698		SYN148	Syndromic Aniridia	9
699		PRT162	Partial Deletion of the Short Arm of Chromosome 6	9
700		FBL017	Fibular Dimelia-Diplopodia Syndrome	9
701	c	CHR201	Chromosome 16, Uniparental Disomy	9
702		PRT153	Partial Deletion of Chromosome 11	9
703		DGS007	Digestive Duplication	9
704		HMR042	Humero-Ulnar Synostosis	9
705	c	MTR064	Maternal Uniparental Disomy of Chromosome 22	9
706	c	UNP010	Uniparental Disomy of Chromosome 13	9
707	P	PRT183	Partial Monosomy of the Long Arm of Chromosome 10	9
708		2P2002	2p21 Microdeletion Syndrome Without Cystinuria	9
709		PRT202	Partial Duplication of the Long Arm of Chromosome 6	9
710		CNG327	Congenital Epstein-Barr Virus Infection	9
711		MLT171	Multiple Epiphyseal Dysplasia and Pseudoachondroplasia	9
712		PRT154	Partial Deletion of Chromosome 18	9
713		PRT207	Partial Duplication of the Short Arm of Chromosome 7	9
714		DVL026	Developmental Defect of the Eye	9
715		PRT171	Partial Deletion of the Short Arm of Chromosome 18	9
716		ECT107	Ectasia of the Left Atrial Appendage	9
717	c	UNP009	Uniparental Disomy of Chromosome 20	9
718		OMP003	Omphalomesenteric Cyst	8
719	c	ISC013	Isochromosomy Yq	8
720		PRN048	Prenatal Benign Hypophosphatasia	8
721		PRT203	Partial Duplication of the Long Arm of Chromosome 7	8
722		PRT241	Partial Deletion of the Long Arm of Chromosome 20	8
723		ISL049	Isolated Dandy-Walker Malformation Without Hydrocephalus	8
724		PRT231	Partial Duplication of Chromosome 4	8
725		DGS009	Digestive Tract Malformation	8
726		PRT166	Partial Deletion of the Short Arm of Chromosome 10	8
727		PRT174	Partial Deletion of the Long Arm of Chromosome 1	8
728		PRT181	Partial Deletion of the Long Arm of Chromosome 8	8
729		PRT208	Partial Duplication of the Short Arm of Chromosome 8	8
730		PRT239	Partial Deletion of the Long Arm of Chromosome 18	8
731		DST090	Distal Trisomy 2p	8
732		DBL018	Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis	8
733		PRT230	Partial Duplication of Chromosome 3	8
734	c	PRT190	Partial Trisomy of the Long Arm of Chromosome 18	8
735		NNS055	Non-Syndromic Preaxial Polydactyly	8
736		ISL022	Isolated Congenital Nasal Pyriform Aperture Stenosis	8
737		ISL028	Isolated Cerebellar Vermis Hypoplasia	8
738		PRT152	Partial Deletion of Chromosome 10	8
739		PRT199	Partial Duplication of the Long Arm of Chromosome 13	8
740		PRT238	Partial Deletion of the Long Arm of Chromosome 17	8
741	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	8
742		SVR046	Severe Lateral Tibial Bowing with Short Stature	8
743		AML037	Amelia of Upper Limb	8
744		DST087	Distal Trisomy 7p	8
745		CRN208	Coronary Sinus Atresia	7
746		PRT234	Partial Duplication of Chromosome 7	7
747		IDP088	Idiopathic Isolated Micropenis	7
748		MXL013	Maxillary Arteriovenous Malformation	7
749	P	ISC012	Isochromosome Y	7
750		DST084	Distal Trisomy 8q	7
751		NNS059	Non-Syndromic Limb Reduction Defect	7
752		PRT235	Partial Deletion of the Long Arm of Chromosome 14	7
753		ARC019	Arachnodactyly - Intellectual Disability - Dysmorphism	7
754		UNC003	Unicervical Bicornuate Uterus	7
755		PRT149	Partial Deletion of Chromosome 7	7
756		PRT175	Partial Deletion of the Long Arm of Chromosome 2	7
757		PRT217	Partial Duplication of the Short Arm of Chromosome 4	7
758		PRT223	Partial Duplication of Chromosome 11	7
759		TRG018	Trigonocephaly-Broad Thumbs Syndrome	7
760	c	CNG476	Congenital Systemic Arteriovenous Fistula	7
761		CNG287	Congenital Absence of Both Forearm and Hand	7
762		ATR096	Atrioventricular Valve Anomaly	7
763		PRT216	Partial Trisomy of Chromosome 20	7
764		DYR002	Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion	7
765		PRT244	Partial Deletion of the Short Arm of Chromosome 12	7
766		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	7
767		CNG610	Congenital Hypoplasia of Thumb	7
768		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	7
769		CNG107	Congenital Mitral Malformation	6
770	P	TSS001	Tessier Number 5 Facial Cleft	6
771		ECS003	Eec Syndrome and Related Disorders	6
772		KRS001	Krauss Herman Holmes Syndrome	6
773		PRT150	Partial Deletion of the Long Arm of Chromosome 12	6
774		PRT242	Partial Deletion of the Long Arm of Chromosome 21	6
775		CNG259	Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation	6
776		INT355	Intercalary Limb Defects	6
777		12Q001	12q15q21.1 Microdeletion Syndrome	6
778		ISL153	Isolated Congenital Aglossia	6
779		DST075	Distal Trisomy 16q	6
780		LPT012	Leptomyelolipoma	6
781		ECT057	Ectasia of the Right Atrial Appendage	6
782		HYP850	Hypoglossia/aglossia	6
783		ATY043	Atypical Norrie Disease Due to Xp11.3 Microdeletion	6
784		PRT191	Partial Duplication of the Long Arm of Chromosome 17	6
785	c	LRY048	Laryngotracheoesophageal Cleft Type 0	6
786		DST088	Distal Trisomy 1p36	6
787	c	CHR179	Chromosome 1, Uniparental Disomy 1q12 Q21	5
788		CRN073	Coronary Arteries Congenital Malformation	5
789		PRT139	Partial Bilateral Aplasia of the Mullerian Ducts	5
790		EXT043	External Auditory Canal Aplasia/hypoplasia	5
791		PRT141	Partial Deletion of Chromosome 1	5
792		PRT147	Partial Deletion of Chromosome 9	5
793		PRT158	Partial Deletion of the Short Arm of Chromosome 2	5
794		PRT168	Partial Deletion of the Short Arm of Chromosome 16	5
795		PRT211	Partial Duplication of the Short Arm of Chromosome 11	5
796		EXT047	Extralobar Congenital Pulmonary Sequestration	5
797		RDL020	Radio-Ulnar Synostosis, Bilateral	5
798		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	5
799		TRC084	Tricuspid Valve Agenesis	5
800		DST066	Distal Monosomy 20q	5
801		LNS008	Lens Position Anomaly	5
802		CNG602	Congenital Anomaly of the Great Arteries	5
803		PRS138	Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium	5
804		PLM157	Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome	5
805		INT285	Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome	5
806		3Q2005	3q26q27 Microdeletion Syndrome	5
807		SYN096	Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication	5
808		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	5
809		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	5
810		PRT249	Partial Autosomal Monosomy	5
811	c	PTR020	Paternal Uniparental Disomy of Chromosome 20	5
812		PRT195	Partial Duplication of the Long Arm of Chromosome 8	5
813		PRT227	Partial Deletion of the Long Arm of Chromosome 22	5
814		GLB027	Global Cerebellar Malformation	5
815	c	BCK011	Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion	5
816		SYN118	Syndrome with Limb Reduction Defects	5
817		DST070	Distal Monosomy 4q	5
818		DST073	Distal Monosomy 7p	5
819		UNV004	Univentricular Heart with Single Atrio-Ventricular Valve	5
820	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	5
821		NNT001	Neonatal Infective Mastitis	5
822		SYN097	Syndromic Urogenital Tract Malformation	5
823	c	LSS020	Lissencephaly with Cerebellar Hypoplasia Type B	5
824	c	LSS023	Lissencephaly with Cerebellar Hypoplasia Type C	5
825	c	CHR251	Chromosome 5, Uniparental Disomy	4
826		CLS021	Closed Iniencephaly	4
827		SYN168	Syndrome with a Cerebellar Malformation As a Major Feature	4
828		LWM001	Low Implantation of Placenta	4
829		PRT142	Partial Deletion of Chromosome 4	4
830		PRT157	Partial Deletion of Chromosome 19	4
831		CNG577	Congenital Deformities of Limbs	4
832		CNG316	Congenital Vertical Talus, Bilateral	4
833		MCR188	Macrodactyly of Fingers, Unilateral	4
834		MCR190	Macrodactyly of Toes, Unilateral	4
835		CDL007	Caudal Regression-Sirenomelia Spectrum	4
836		46X076	46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen	4
837		RSP024	Respiratory or Mediastinal Malformation	4
838		NND007	Non-Distal Monosomy 12q	4
839		MLT174	Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome	4
840		MLT175	Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability	4
841	c	TTL014	Total Autosomal Monosomy	4
842	c	46X062	46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect	4
843	c	46X074	46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect	4
844		CRD212	Cardiac Anomalies-Heterotaxy Syndrome	4
845		NSL027	Nasal Dorsum Fistula	4
846		PNN004	Pinnae Fistula or Cyst	4
847	c	PRT188	Partial Trisomy of the Long Arm of Chromosome 20	4
848		PRT210	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18	4
849		PRT220	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5	4
850		ISL035	Isolated Amyelia	4
851		ISL046	Isolated Bilateral Hemispheric Cerebellar Hypoplasia	4
852		ISL051	Isolated Partial Cerebellar Vermis Agenesis	4
853	c	ISL052	Isolated Total Cerebellar Vermis Agenesis	4
854		ABN008	Abnormal Origin of the Pulmonary Artery	4
855		CNG270	Congenital Primary Megaureter, Obstructed Form	4
856		46X066	46,xy Disorder of Sex Development of Endocrine Origin	4
857		CNG569	Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature	4
858		PRT247	Partial Duplication of the Short Arm of Chromosome 19	4
859		ISL126	Isolated Iridoschisis	4
860		CNG331	Congenital Bilateral Megacalycosis	4
861		DPH030	Diaphragmatic or Abdominal Wall Malformation	4
862		DYS209	Dysostosis with Predominant Vertebral and Costal Involvement	4
863		XLN157	X-Linked Intellectual Disability, Porteous Type	4
864		MLP009	Malposition of a Coronary Ostium	4
865		MCR377	Microblepharon-Ablephara Syndrome	4
866		LNS009	Lens Size Anomaly	4
867		MLF008	Malformation of the Cerebellar Hemispheres	4
868		SBC038	Sub-Cortical Nodular Heterotopia	4
869		CNG606	Congenital Aortic Valve Dysplasia	4
870		MDN006	Median Cleft of the Upper Lip and Maxilla	4
871		PRT233	Partial Duplication of Chromosome 6	4
872		SGM005	Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia	4
873		SPG003	Spigelian Hernia-Cryptorchidism Syndrome	4
874		CNG315	Congenital Vertical Talus, Unilateral	4
875		MCR189	Macrodactyly of Toes, Bilateral	4
876		46X078	46,xx Disorder of Sex Development Induced by Androgens Excess	4
877	c	PTR021	Paternal Uniparental Disomy of Chromosome 21	4
878	c	INT350	Intermediate Isolated Anorectal Malformation	3
879	P	46X065	46,xy Disorder of Gonadal Development	3
880		DYS202	Dysostosis with Limb Anomaly As a Major Feature	3
881		DYS203	Dysostosis with Combined Reduction Defects of Upper and Lower Limbs	3
882		OVR117	Overgrowth Syndrome with 2q37 Translocation	3
883		CMP099	Complete Hemimelia	3
884		SYN130	Syndromic Lacrimal System Disorder	3
885		ART160	Arterial Duct Anomaly	3
886		STR076	Straddling and/or Overriding Mitral Valve	3
887		PLM119	Pulmonary Artery Coming from Patent Ductus Arteriosus	3
888		MTR068	Mitral Valve Agenesis	3
889		ANM025	Anomaly of the Mitral Subvalvular Apparatus	3
890		PRR036	Pierre Robin Syndrome Associated with Collagen Disease	3
891		PRR039	Pierre Robin Syndrome Associated with Branchial Archs Anomalies	3
892		PRL049	Paralytic Facial Malformation	3
893	P	YCH005	Y Chromosome Number Anomaly	3
894		PRT214	Partial Trisomy/tetrasomy of Chromosome 18	3
895		CNG317	Congenital Genu Flexum	3
896		CNG322	Congenital Elbow Dislocation, Unilateral	3
897		ISL152	Isolated Congenital Hypoglossia	3
898		ATS455	Autosomal Uniparental Disomy	3
899		SXC005	Sex-Chromosome Number Anomaly	3
900		NNS062	Non-Syndromic Limb Malformation	3
901		NNS065	Non-Syndromic Diaphragmatic or Abdominal Wall Malformation	3
902		SYN161	Syndromic Visceral Malformation	3
903		NNS049	Non-Syndromic Uterovaginal Malformation	3
904		GLP005	Glioependymal/ependymal Cyst	3
905	c	46X067	46,xx Disorder of Gonadal Development	3
906		ANM078	Anomaly of the Coronary Ostia	3
907		PLM194	Pulmonary Artery or Pulmonary Branch Anomaly	3
908	P	LGB001	Leg Absence Deformity Cataract	2
909		NNS050	Non-Syndromic Urogenital Tract Malformation of Female	2
910		PLY186	Polysomy of X Chromosome	2
911		XCH003	X Chromosome Number Anomaly with Female Phenotype	2
912		NNS053	Non Syndromic Limb Overgrowth	2
913		PRT248	Partial Autosomal Trisomy/tetrasomy	2
914		NNS066	Non-Syndromic Visceral Malformation	2
915		EMB004	Embryonal Carcinoma	56
916	c	WLM018	Wilms Tumor 5	61
917	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	45
918		CHL043	Childhood Embryonal Testis Carcinoma	8
919	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	28
920	P	CNT003	Central Nervous System Embryonal Carcinoma	10
921		OVR050	Ovarian Embryonal Carcinoma	35
922		CHL026	Childhood Ovarian Embryonal Carcinoma	8
923		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	24
924		GRM001	Germ Cell and Embryonal Cancer	29
925	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	15
926	c	WLM013	Wilms Tumor 1	65
927	P	EPN001	Ependymoblastoma	44
928	c	WLM011	Wilms Tumor 6	37
929	P	HRD009	Hereditary Wilms' Tumor	29
930	c	WLM005	Wilms Tumor 2	28
931	c	WLM017	Wilms Tumor 4	19
932	c	WLM015	Wilms Tumor 3	18
933	c	ADL045	Adult Ependymoblastoma	14
934	c	FML094	Familial Wilms Tumor 2	9
935		EMB001	Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma	6
936		TRT001	Teratocarcinoma	45
937	P	END039	Endodermal Sinus Tumor	44
938	c	ADL047	Adult Endodermal Sinus Tumor	8
939	P	LFT003	Left Ventricular Noncompaction	54
940		FTL012	Fetal and Neonatal Alloimmune Thrombocytopenia	44
941	c	PRS122	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	39
942	c	LFT021	Left Ventricular Noncompaction 1	35
943	P	BTR001	Botryoid Rhabdomyosarcoma	35
944	c	LFT017	Left Ventricular Noncompaction 8	28
945	c	LFT018	Left Ventricular Noncompaction 10	26
946	c	LFT020	Left Ventricular Noncompaction 7	20
947	c	LFT011	Left Ventricular Noncompaction 2	18
948	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	16
949	c	ADL031	Adult Botryoid Rhabdomyosarcoma	7
950	c	HYD046	Hydatidiform Mole, Recurrent, 1	59
951		GRM005	Germ Cell Cancer	47
952		SPR008	Supratentorial Primitive Neuroectodermal Tumor	43
953		EMB007	Embryonal Sarcoma	41
954		CNT115	Central Nervous System Embryonal Tumor	23
955		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	22
956		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	20
957		FTL048	Fetal Lung Interstitial Tumor	14
958		EMB017	Embryonal Tumor of Neuroepithelial Tissue	3
959	P	OST002	Osteoporosis	74
960		SCH036	Scheie Syndrome	72
961	P	FML011	Familial Adenomatous Polyposis	72
962		CNT097	Central Hypoventilation Syndrome, Congenital	71
963		LPD012	Lipoid Congenital Adrenal Hyperplasia	70
964		APR006	Apert Syndrome	70
965	P	CRD224	Cardiofaciocutaneous Syndrome 1	70
966	P	JVN014	Juvenile Polyposis Syndrome	68
967	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
968	c	MCP052	Mucopolysaccharidosis, Type Vi	67
969	P	HLP001	Holoprosencephaly	67
970		STH001	Saethre-Chotzen Syndrome	67
971	P	MLG056	Malignant Hyperthermia	67
972	c	FML346	Familial Adenomatous Polyposis 1	66
973	P	ART005	Arteriovenous Malformation	65
974	P	MCK013	Meckel Syndrome, Type 1	65
975	P	HRP006	Herpes Simplex	65
976	c	MCP001	Mucopolysaccharidosis Iii	65
977		HJD001	Hajdu-Cheney Syndrome	64
978		HLT001	Holt-Oram Syndrome	63
979		NNN026	Noonan Syndrome with Multiple Lentigines	62
980		OCC006	Occipital Horn Syndrome	60
981	P	CMR001	Camurati-Engelmann Disease	59
982	P	SPN309	Spinocerebellar Ataxia 6	59
983		MYP136	Myopathy, Centronuclear, X-Linked	59
984		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	59
985	c	SPN301	Spinocerebellar Ataxia 2	58
986	P	INT070	Intestinal Obstruction	58
987		SPR004	Supravalvular Aortic Stenosis	58
988		MYR002	Mayer-Rokitansky-Kuster-Hauser Syndrome	58
989		BRN056	Bronchopulmonary Dysplasia	57
990		PLM070	Pulmonic Stenosis	57
991		CRN005	Craniofrontonasal Syndrome	57
992	c	MYS051	Myasthenic Syndrome, Congenital, 5	57
993	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	57
994	c	HYP292	Hypophosphatasia, Infantile	57
995	c	INT072	Intestinal Pseudo-Obstruction	56
996	P	MTC069	Mitochondrial Disorders	56
997	P	PSD015	Pseudohypoparathyroidism	56
998		PPL025	Popliteal Pterygium Syndrome	56
999	c	MCR256	Microphthalmia, Syndromic 9	56
1000		PYC001	Pycnodysostosis	56
1001		MCN007	Meconium Aspiration Syndrome	55
1002	P	MRG008	Meier-Gorlin Syndrome 1	55
1003	P	ATR001	Atrioventricular Septal Defect	55
1004		CNN011	Cenani-Lenz Syndactyly Syndrome	55
1005	P	AML002	Amelogenesis Imperfecta	55
1006		MWT001	Mowat-Wilson Syndrome	54
1007		RST011	Restrictive Dermopathy, Lethal	54
1008	c	AML044	Amelogenesis Imperfecta, Type Ig	54
1009	c	RBN022	Robinow Syndrome, Autosomal Recessive 1	54
1010	c	SPN294	Spinocerebellar Ataxia 1	53
1011		GST009	Gastroschisis	53
1012	c	LTH007	Lethal Congenital Contracture Syndrome 1	53
1013	c	OST164	Osteoporosis, Juvenile	53
1014	c	HLP023	Holoprosencephaly 1	53
1015	P	PTS002	Ptosis	53
1016		NNT012	Neonatal Jaundice	53
1017		MLB001	Mulibrey Nanism	53
1018	c	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	53
1019		FRY006	Fryns Microphthalmia Syndrome	52
1020		CLB010	Coloboma of Macula	52
1021	c	EPD076	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	52
1022	c	HYP293	Hypophosphatasia, Adult	52
1023	c	ACH041	Achondrogenesis, Type Ii	52
1024	c	SPN291	Spinocerebellar Ataxia 7	52
1025	c	LKD019	Leukodystrophy, Hypomyelinating, 6	52
1026	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	52
1027		STV003	Stuve-Wiedemann Syndrome	51
1028		JCK001	Jackson-Weiss Syndrome	51
1029		WYR002	Weyers Acrofacial Dysostosis	51
1030		NRL002	Neurilemmomatosis	51
1031		MLL018	Miller-Dieker Lissencephaly Syndrome	51
1032	c	BRC051	Brachydactyly, Type B1	51
1033	c	SPN296	Spinocerebellar Ataxia 17	51
1034	P	OVR082	Overgrowth Syndrome	50
1035	P	MTR003	Mitral Valve Stenosis	50
1036		VTR016	Vater/vacterl Association	50
1037		PLC008	Placenta Disease	50
1038	P	ACH011	Achondrogenesis	50
1039	c	HLP025	Holoprosencephaly 9	50
1040	P	OMP004	Omphalocele	50
1041	c	MCK032	Meckel Syndrome, Type 3	50
1042		RNL078	Renal Dysplasia	50
1043	c	SPN311	Spinocerebellar Ataxia 13	50
1044	c	FML347	Familial Adenomatous Polyposis 2	49
1045	c	LKD010	Leukodystrophy, Hypomyelinating, 2	49
1046	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	49
1047	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	49
1048	c	HLP024	Holoprosencephaly 2	49
1049		CRD002	Cri-Du-Chat Syndrome	49
1050	c	ACH042	Achondrogenesis, Type Ib	49
1051		47X002	47,xyy	49
1052		ACR043	Acromicric Dysplasia	49
1053		CHR222	Chromosome 1p36 Deletion Syndrome	49
1054	P	CNG003	Congenital Dyserythropoietic Anemia	49
1055	c	SPN330	Spondylocostal Dysostosis 5	49
1056	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	49
1057	c	SPN106	Spinocerebellar Ataxia 5	49
1058		SPN405	Spondyloepiphyseal Dysplasia Tarda, X-Linked	49
1059		ACR002	Acrocapitofemoral Dysplasia	48
1060	c	DSB006	Desbuquois Dysplasia 1	48
1061	P	CPL014	Capillary Malformation-Arteriovenous Malformation 1	48
1062		DPN005	Du Pan Syndrome	48
1063	P	BNM029	Bone Mineral Density Quantitative Trait Locus 15	48
1064		HND004	Hand-Foot-Genital Syndrome	48
1065		SHR044	Short Rib-Polydactyly Syndrome	48
1066	P	MCL001	Mucolipidosis	48
1067	c	HLP026	Holoprosencephaly 3	48
1068		SHR098	Short-Rib Thoracic Dysplasia 12	48
1069		WRS002	Warsaw Breakage Syndrome	47
1070		ECT007	Ectodermal Dysplasia/skin Fragility Syndrome	47
1071	c	MCK033	Meckel Syndrome, Type 4	47
1072		HLS003	Helsmoortel-Van Der Aa Syndrome	47
1073		BHR002	Bohring-Opitz Syndrome	47
1074	c	SPN105	Spinocerebellar Ataxia 4	47
1075	c	SPN312	Spinocerebellar Ataxia 14	47
1076	P	HYP776	Hyperparathyroidism, Neonatal Severe	47
1077		MTC018	Metachondromatosis	47
1078	c	HLP016	Holoprosencephaly 11	47
1079		TTR011	Tetraploidy	47
1080	c	CNG216	Congenital Hydrocephalus	47
1081	P	KRN004	Kernicterus	47
1082		OST062	Osteoarthritis with Mild Chondrodysplasia	47
1083	c	MCK031	Meckel Syndrome, Type 2	47
1084		BRT059	Bartsocas-Papas Syndrome	46
1085		DYG001	Dyggve-Melchior-Clausen Disease	46
1086	c	46X082	46,xy Sex Reversal	46
1087	c	CTR098	Cataract 1, Multiple Types	46
1088		HYR002	Hoyeraal Hreidarsson Syndrome	46
1089	c	ACH033	Achondrogenesis, Type Ia	46
1090	c	SCP001	Sc Phocomelia Syndrome	46
1091	c	LKD009	Leukodystrophy, Hypomyelinating, 5	46
1092		MLL011	Mullerian Aplasia and Hyperandrogenism	46
1093	c	MCK014	Meckel Syndrome, Type 5	46
1094	c	MCK012	Meckel Syndrome, Type 6	45
1095	P	HRN001	Horner's Syndrome	45
1096		VSD002	Vas Deferens, Congenital Bilateral Aplasia of	45
1097	c	SPN293	Spinocerebellar Ataxia 12	45
1098	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	45
1099		LRN006	Laurin-Sandrow Syndrome	45
1100	P	OCY003	Oocyte Maturation Defect 1	45
1101	c	SPN097	Spinocerebellar Ataxia 23	45
1102	c	HLP028	Holoprosencephaly 5	45
1103	c	SPN314	Spinocerebellar Ataxia 10	45
1104	P	DSR089	Disorders of Sexual Development	45
1105	c	LPD019	Lipodystrophy, Partial, Acquired	45
1106	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	45
1107		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	45
1108		OVR112	Ovarian Germ Cell Cancer	45
1109		HMH004	Hemihyperplasia, Isolated	45
1110	c	SPN305	Spinocerebellar Ataxia 11	45
1111	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	45
1112	c	SPN308	Spinocerebellar Ataxia 28	45
1113	c	RNL122	Renal Hypodysplasia/aplasia 3	44
1114		HRT030	Hartsfield Syndrome	44
1115		LRY022	Laryngoonychocutaneous Syndrome	44
1116	c	CHR579	Chiari Malformation Type Ii	44
1117		PRL023	Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome	44
1118	c	HLP029	Holoprosencephaly 4	44
1119	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	44
1120	P	PLM149	Palmoplantar Keratoderma and Congenital Alopecia 2	44
1121		SCH030	Schneckenbecken Dysplasia	44
1122	c	MLG147	Malignant Hyperthermia 1	43
1123	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	43
1124	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	43
1125	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	43
1126	P	SYN075	Syngnathia	43
1127	P	EPT020	Epithelioid Hemangioendothelioma	43
1128		ELS006	Elsahy-Waters Syndrome	43
1129		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	43
1130		STL007	Steel Syndrome	43
1131		CRN212	Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome	43
1132		MCR103	Microtia	43
1133		GNT031	Genitopatellar Syndrome	42
1134		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	42
1135	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	42
1136		PTC001	Potocki-Shaffer Syndrome	42
1137	P	VND001	Vein Disease	42
1138	c	SPN101	Spinocerebellar Ataxia 29	42
1139		END059	Endocrine-Cerebroosteodysplasia	42
1140	c	BNM022	Bone Mineral Density Quantitative Trait Locus 8	42
1141		ACR011	Acromesomelic Dysplasia, Maroteaux Type	42
1142		TRP014	Triploidy	42
1143		YLL001	Yellow Nail Syndrome	42
1144	P	MLT065	Multicentric Osteolysis, Nodulosis, and Arthropathy	42
1145	c	SPN265	Spinocerebellar Ataxia 36	42
1146	P	ECT005	Ectropion	42
1147		MLT084	Multicystic Dysplastic Kidney	42
1148	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	42
1149	P	RNG032	Ring Chromosome	42
1150		CRY032	Carey-Fineman-Ziter Syndrome	42
1151		BLD129	Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	41
1152	c	MCK034	Meckel Syndrome, Type 8	41
1153	P	CHR342	Chiari Malformation	41
1154	c	BRC052	Brachydactyly, Type B2	41
1155		ACR009	Acromesomelic Dysplasia, Hunter-Thompson Type	41
1156		VLP002	Valproate Embryopathy	41
1157	c	CLR136	Ciliary Dyskinesia, Primary, 9	41
1158	c	SPN100	Spinocerebellar Ataxia 27	41
1159	P	CRN013	Craniodiaphyseal Dysplasia	41
1160		CHR659	Chromosome 22q11.2 Duplication Syndrome	41
1161	c	HNF003	Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease	41
1162	c	LKD020	Leukodystrophy, Hypomyelinating, 10	41
1163		LCR013	Lacrimal Duct Defect	41
1164	c	SPN304	Spinocerebellar Ataxia 8	41
1165		ABR009	Abruzzo-Erickson Syndrome	41
1166		OGD001	Ogden Syndrome	41
1167	c	SPN284	Spinocerebellar Ataxia 38	41
1168	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	40
1169	c	SPN096	Spinocerebellar Ataxia 21	40
1170	c	PNT043	Pontocerebellar Hypoplasia, Type 4	40
1171		BRT046	Baraitser-Winter Cerebrofrontofacial Syndrome	40
1172	c	SPN104	Spinocerebellar Ataxia 34	40
1173	c	SPN290	Spinocerebellar Ataxia 15	40
1174		MDL009	Medullary Sponge Kidney	40
1175	c	MLT138	Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	40
1176	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	40
1177		CRD017	Cardiac Valvular Dysplasia, X-Linked	40
1178	c	HLP027	Holoprosencephaly 7	40
1179		MJD001	Majeed Syndrome	40
1180	c	AML057	Amelogenesis Imperfecta, Type Iiia	40
1181	P	MCR364	Macrodactyly	40
1182	c	LKD015	Leukodystrophy, Hypomyelinating, 3	40
1183		PLY100	Polyploidy	40
1184	c	CRD163	Cardiofaciocutaneous Syndrome 2	39
1185	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	39
1186	c	SPN266	Spinocerebellar Ataxia 35	39
1187		EKN001	Eiken Syndrome	39
1188	c	SYN084	Synpolydactyly 1	39
1189	P	BRC003	Brachyolmia	39
1190	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	39
1191	c	AML020	Amelogenesis Imperfecta, Type Iv	39
1192	c	SPN103	Spinocerebellar Ataxia 31	39
1193	c	LKD018	Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	38
1194	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	38
1195		HLZ001	Holzgreve Syndrome	38
1196		TRC026	Tracheal Disease	38
1197	c	CHL142	Cholestasis, Intrahepatic, of Pregnancy 3	38
1198		ISL109	Isolated Cleft Lip	38
1199	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	37
1200	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	37
1201		CLF028	Cleft Soft Palate	37
1202	c	AML017	Amelogenesis Imperfecta, Type Ib	37
1203		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	37
1204		CHR502	Chromosome 17q12 Duplication Syndrome	37
1205	c	PNT033	Pontocerebellar Hypoplasia, Type 10	37
1206		AML066	Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome	37
1207	c	LKD023	Leukodystrophy, Hypomyelinating, 12	37
1208		ANT057	Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis	37
1209	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	37
1210		ACR016	Acromesomelic Dysplasia	37
1211	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	37
1212	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	37
1213	c	LKD021	Leukodystrophy, Hypomyelinating, 11	37
1214		PLC006	Placental Choriocarcinoma	36
1215	c	STC013	Stickler Syndrome, Type Ii	36
1216		GRN034	Grange Syndrome	36
1217		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	36
1218	c	SPN247	Spinocerebellar Ataxia Type 19/22	36
1219		GST052	Gestational Choriocarcinoma	36
1220		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	36
1221		DYS045	Dysosteosclerosis	36
1222	c	SPN283	Spinocerebellar Ataxia 37	36
1223	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	36
1224	c	RBN008	Rubinstein-Taybi Syndrome 2	36
1225	c	AML061	Amelogenesis Imperfecta, Type Ie	36
1226		NNT004	Neonatal Respiratory Failure	36
1227	P	MTP001	Metaphyseal Dysplasia	36
1228	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	35
1229	c	CRD164	Cardiofaciocutaneous Syndrome 3	35
1230		HMM005	Hemimelia	35
1231	c	WLL037	Weill-Marchesani Syndrome 2	35
1232	c	MCR312	Microphthalmia, Syndromic 10	35
1233	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	35
1234	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	35
1235	c	CRD167	Cardiofaciocutaneous Syndrome 4	35
1236	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	35
1237	c	OMD001	Omodysplasia 1	35
1238	c	SPN419	Spinocerebellar Ataxia 45	35
1239		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	35
1240		ALZ030	Alazami Syndrome	35
1241	c	AML047	Amelogenesis Imperfecta, Type Ia	35
1242		TTH004	Tethered Spinal Cord Syndrome	35
1243		PRP093	Pierpont Syndrome	35
1244	c	LKD016	Leukodystrophy, Hypomyelinating, 9	35
1245	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	35
1246	c	46X057	46,xy Sex Reversal 8	35
1247		RFM001	Roifman Syndrome	35
1248	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	35
1249	P	ENT005	Entropion	34
1250	c	LKD008	Leukodystrophy, Hypomyelinating, 4	34
1251	c	MCR245	Microphthalmia, Syndromic 8	34
1252	c	RNG004	Ring Chromosome 1	34
1253		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	34
1254		OSB001	Osebold-Remondini Syndrome	34
1255		ATY022	Atypical Coarctation of Aorta	34
1256		DYS048	Dysplasia Epiphysealis Hemimelica	34
1257	c	KNN009	Kenny-Caffey Syndrome, Type 1	34
1258	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	34
1259	c	AML050	Amelogenesis Imperfecta, Type if	34
1260	c	SPN099	Spinocerebellar Ataxia 26	34
1261	c	PK3005	Pik3ca-Related Overgrowth Syndrome	34
1262		PST063	Postsynaptic Congenital Myasthenic Syndromes	34
1263	c	SPN102	Spinocerebellar Ataxia 30	34
1264	c	SPN299	Spinocerebellar Ataxia 20	33
1265		MCR025	Microhydranencephaly	33
1266	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	33
1267	P	HYP700	Hypomyelinating Leukodystrophy	33
1268		CHR225	Chromosome 1q21.1 Duplication Syndrome	33
1269	c	ATL012	Atelosteogenesis, Type Iii	33
1270		CYS021	Cystic Adenomatoid Malformation of Lung	33
1271		MSC020	Mosaic Trisomy 8	33
1272		OTD001	Otodental Dysplasia	33
1273	c	BNM018	Bone Mineral Density Quantitative Trait Locus 3	33
1274	c	MRG009	Meier-Gorlin Syndrome 2	33
1275		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	32
1276	c	SPN095	Spinocerebellar Ataxia 19	32
1277		MYP038	Myopathy, Congenital, Compton-North	32
1278	P	DSB002	Desbuquois Dysplasia	32
1279		SPN154	Spondyloperipheral Dysplasia	32
1280	P	PLM182	Pulmonary Hypoplasia, Primary	32
1281		FMR018	Femoral-Facial Syndrome	32
1282		TRG019	Trigonocephaly with Short Stature and Developmental Delay	32
1283	c	FML084	Familial Porencephaly	32
1284		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	32
1285	c	SPN383	Spinocerebellar Ataxia 42	32
1286	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	31
1287	c	DSB005	Desbuquois Dysplasia 2	31
1288		ACR017	Acrofacial Dysostosis	31
1289	c	SPN094	Spinocerebellar Ataxia 18	31
1290	c	JVN034	Juvenile Polyposis of Infancy	31
1291	c	RNG029	Ring Chromosome 14 Syndrome	31
1292	c	PSD104	Pseudohypoparathyroidism, Type Ii	31
1293	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	31
1294		ANM001	Anemia of Prematurity	31
1295	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	31
1296		CLF044	Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly	31
1297	c	CPL015	Capillary Malformation-Arteriovenous Malformation 2	31
1298		ATY016	Atypical Werner Syndrome	31
1299		CBB005	Cobblestone Lissencephaly	31
1300		OPT058	Optic Disc Anomalies with Retinal and/or Macular Dystrophy	31
1301		EPP022	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	31
1302	P	CHR084	Chromosomal Disease	30
1303		MCR354	Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures	30
1304		WRF003	Warfarin Syndrome	30
1305		TTR014	Tetrasomy 18p	30
1306		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	30
1307	P	ATS382	Autosomal Dominant Tubulointerstitial Kidney Disease	30
1308		SPR031	Sprengel Deformity	30
1309		MTR087	Maternal Uniparental Disomy	30
1310	c	HYP723	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1	30
1311		TTR012	Tetrasomy 9p	30
1312	c	MRG010	Meier-Gorlin Syndrome 3	30
1313		EPD072	Epidermolysis Bullosa Dystrophica, Pretibial	30
1314		CLF049	Cleft Lip and Alveolus	30
1315		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	30
1316		PLM013	Pulmonary Immaturity	30
1317	P	HYP714	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	30
1318	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	29
1319	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	29
1320	c	BNM015	Bone Mineral Density Quantitative Trait Locus 18	29
1321		12Q002	12q14 Microdeletion Syndrome	29
1322	P	PRC050	Pericardium Disease	29
1323	c	AML018	Amelogenesis Imperfecta, Type Ic	29
1324		FTL007	Fetal Hydantoin Syndrome	29
1325	c	FML339	Familial Adenomatous Polyposis 4	29
1326	c	SPN286	Spinocerebellar Ataxia 40	29
1327		HYP364	Hyperostosis Frontalis Interna	29
1328		RHM015	Rhombencephalosynapsis	29
1329		PLM059	Pulmonary Atresia with Ventricular Septal Defect	29
1330	c	SPN098	Spinocerebellar Ataxia 25	29
1331		CHR270	Chromosome 9p Duplication	29
1332		PYR025	Pyruvate Dehydrogenase E2 Deficiency	29
1333		DFN039	Deafness-Infertility Syndrome	29
1334		WLL012	Williams-Beuren Region Duplication Syndrome	29
1335	c	HYP698	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2	29
1336		FRS007	Frias Syndrome	29
1337	c	MRG016	Meier-Gorlin Syndrome 8	28
1338		PSD046	Pseudotrisomy 13 Syndrome	28
1339		LYM122	Lymphangiectasia, Pulmonary, Congenital	28
1340		49X001	49, Xxxxx	28
1341	c	RNG022	Ring Chromosome 6	28
1342		MSM004	Mesomelia-Synostoses Syndrome	28
1343		PRX085	Preaxial Hallucal Polydactyly	28
1344	c	MLG151	Malignant Hyperthermia 5	28
1345	P	CRN249	Cornea Plana	28
1346		UNV002	Univentricular Heart	28
1347		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	28
1348		NBL001	Nablus Mask-Like Facial Syndrome	28
1349	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	28
1350	c	FML299	Familial Adenomatous Polyposis 3	28
1351		16Q001	16q24.3 Microdeletion Syndrome	28
1352	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	28
1353	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	28
1354		HYP561	Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness	28
1355		CLF048	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features	28
1356		ACR102	Acrorenal-Mandibular Syndrome	28
1357	c	SPN431	Spinocerebellar Ataxia, Autosomal Recessive 27	27
1358	c	SPN427	Spinocerebellar Ataxia 48	27
1359	c	CLR135	Ciliary Dyskinesia, Primary, 7	27
1360		CNG506	Congenital Amyoplasia	27
1361		BRN055	Bronchogenic Cyst	27
1362	c	MRG011	Meier-Gorlin Syndrome 4	27
1363		CBB002	Cobb Syndrome	27
1364		CHR190	Chromosome 12p Duplication	27
1365		NRD028	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies	27
1366	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	27
1367		SPN358	Spondyloepimetaphyseal Dysplasia, X-Linked	27
1368		KPS005	Kaposiform Lymphangiomatosis	27
1369		YNH001	Yuan-Harel-Lupski Syndrome	27
1370	c	RNG010	Ring Chromosome 15	27
1371		CHR209	Chromosome 17p Duplication	27
1372		NNN033	Noonan Syndrome and Noonan-Related Syndrome	27
1373	c	RNG016	Ring Chromosome 20	27
1374		DPH012	Diphallia	27
1375	c	MCK035	Meckel Syndrome, Type 10	27
1376		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	27
1377		XLN235	X-Linked Intellectual Disability with Marfanoid Habitus	27
1378	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	27
1379		HRY005	Hairy Elbows	27
1380		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	26
1381	P	RNL123	Renal Agenesis, Bilateral	26
1382	c	ORF041	Orofaciodigital Syndrome X	26
1383	c	RNG024	Ring Chromosome 8	26
1384		KPR002	Kapur-Toriello Syndrome	26
1385		CHR457	Chromosome 17p13.1 Deletion Syndrome	26
1386	c	ATR047	Atrioventricular Septal Defect 2	26
1387		MCR302	Macrostomia, Isolated	26
1388	c	ATS312	Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	26
1389		CHR498	Chromosome 16p11.2 Duplication Syndrome	26
1390	P	PLM069	Pulmonary Venous Return Anomaly	26
1391	c	MLG145	Malignant Epithelioid Hemangioendothelioma	26
1392		WSM003	Weismann-Netter Syndrome	26
1393	c	SPN418	Spinocerebellar Ataxia 44	26
1394	c	PK3004	Pik3ca-Related Overgrowth Spectrum	26
1395		CHR248	Chromosome 4p Duplication	26
1396	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	26
1397		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	26
1398		LBN004	Liebenberg Syndrome	26
1399		THR101	Thrombocytopenia, Paris-Trousseau Type	26
1400		CHR393	Chromosome 19p13.13 Deletion Syndrome	26
1401		PNS015	Penoscrotal Transposition	26
1402	P	OTP008	Otopalatodigital Syndrome Spectrum Disorder	26
1403		SPS207	Spastic Paraplegia and Psychomotor Retardation with or Without Seizures	26
1404	c	SPN420	Spinocerebellar Ataxia 46	26
1405	c	LKD031	Leukodystrophy, Hypomyelinating, 18	26
1406	c	BSL030	Basal Encephalocele	26
1407	c	SPN421	Spinocerebellar Ataxia 47	25
1408		URC005	Urachal Cyst	25
1409		NNG002	Non-Gestational Ovarian Choriocarcinoma	25
1410	c	CTR182	Cataract 23, Multiple Types	25
1411	c	ATR067	Atrioventricular Septal Defect 4	25
1412		CLN022	Colonic Atresia	25
1413		ACR039	Acromegaloid Hypertrichosis Syndrome	25
1414		FCL047	Facial Clefting, Oblique, 1	25
1415	c	FCL046	Focal Facial Dermal Dysplasia 4	25
1416	c	CHR565	Chromosomal Deletion Syndrome	25
1417		NNG001	Non-Gestational Choriocarcinoma	25
1418		HGH023	High Bone Mass Osteogenesis Imperfecta	25
1419		CHR266	Chromosome 8p23.1 Deletion	25
1420		CHR366	Chromosome 5p13 Duplication Syndrome	25
1421	c	CTR116	Cataract 15, Multiple Types	25
1422	c	MRG015	Meier-Gorlin Syndrome 7	25
1423	c	MCK028	Meckel Syndrome 13	25
1424	c	MRG012	Meier-Gorlin Syndrome 5	25
1425	c	MRG014	Meier-Gorlin Syndrome 6	25
1426	c	CTR105	Cataract 12, Multiple Types	25
1427		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	25
1428		CRB165	Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation	25
1429		DPL009	Duplication of the Pituitary Gland	24
1430	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	24
1431	c	MLG148	Malignant Hyperthermia 2	24
1432	c	HYP831	Hyperparathyroidism, Transient Neonatal	24
1433		CGN001	Cogan-Reese Syndrome	24
1434		STN006	Steinfeld Syndrome	24
1435	c	CRN280	Cornea Plana 2, Autosomal Recessive	24
1436	c	LTH030	Lethal Congenital Contracture Syndrome 8	24
1437	c	BNM016	Bone Mineral Density Quantitative Trait Locus 1	24
1438	c	MCR228	Microphthalmia, Syndromic 13	24
1439	c	RNG013	Ring Chromosome 18	24
1440		CHR159	Charlie M Syndrome	24
1441		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	24
1442	c	LKD022	Leukodystrophy, Hypomyelinating, 13	24
1443		SCH055	Schilbach-Rott Syndrome	24
1444	P	PHC014	Phocomelia	24
1445	c	LKD028	Leukodystrophy, Hypomyelinating, 15	24
1446		LLS001	Lelis Syndrome	24
1447		HRT018	Heart-Hand Syndrome, Slovenian Type	23
1448		OCL070	Oculopalatocerebral Syndrome	23
1449	c	SPN372	Spinocerebellar Ataxia 43	23
1450	c	LTH032	Lethal Congenital Contracture Syndrome 7	23
1451	c	SPN323	Spinocerebellar Ataxia 41	23
1452	c	CRN306	Corneal Dystrophy, Posterior Polymorphous, 4	23
1453	c	ATR071	Atrioventricular Septal Defect 5	23
1454		BLP009	Blepharonasofacial Malformation Syndrome	23
1455	c	LKD027	Leukodystrophy, Hypomyelinating, 14	23
1456	c	CNG100	Congenital Herpes Simplex	23
1457	c	DKP001	Dk Phocomelia Syndrome	23
1458		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	23
1459	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	23
1460		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	23
1461		PRP090	Peripheral Dysostosis	23
1462	c	CTR136	Cataract 41	23
1463		OST117	Osteomesopyknosis	23
1464		CRN104	Craniotelencephalic Dysplasia	23
1465		PTR034	Paternal Uniparental Disomy	23
1466		TTR019	Tetrasomy 5p	23
1467	c	MCK036	Meckel Syndrome, Type 9	23
1468	c	RNG021	Ring Chromosome 5	23
1469	c	LKD030	Leukodystrophy, Hypomyelinating, 17	23
1470		CRS011	Criss-Cross Heart	23
1471		SPL057	Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects	23
1472	P	ERL043	Early-Onset Nuclear Cataract	23
1473		HML054	Hemolytic Disease Due to Fetomaternal Alloimmunization	22
1474		FCL067	Focal Facial Dermal Dysplasia 1, Brauer Type	22
1475		8P2002	8p23.1 Duplication Syndrome	22
1476	c	JVN025	Juvenile Primary Osteoporosis	22
1477		INT095	Internal Carotid Agenesis	22
1478		PTL010	Patella Aplasia-Hypoplasia	22
1479		DPR014	Diprosopus	22
1480		MTC100	Metacarpal 4-5 Fusion	22
1481		LNG101	Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome	22
1482	c	AML048	Amelogenesis Imperfecta, Type Ih	22
1483	c	HLP022	Holoprosencephaly 8	22
1484	c	MCK020	Meckel Syndrome, Type 11	22
1485	c	MLG149	Malignant Hyperthermia 3	22
1486		ATR017	Atrial Septal Defect Coronary Sinus	22
1487		ACR107	Acrofacial Dysostosis, Palagonia Type	22
1488		LRY028	Laryngocele	22
1489	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	22
1490	c	RNG019	Ring Chromosome 3	22
1491		CHN040	Choanal Atresia and Lymphedema	22
1492		CHR241	Chromosome 2q24 Microdeletion Syndrome	22
1493		6QT002	6q Terminal Deletion Syndrome	21
1494	c	OCY004	Oocyte Maturation Defect 3	21
1495	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	21
1496	c	HRN024	Horner Syndrome, Congenital	21
1497		CLR127	Ciliary Dyskinesia, Primary, 36, X-Linked	21
1498	c	BNM030	Bone Mineral Density Quantitative Trait Locus 16	21
1499	c	BRC053	Brachyolmia Type 2	21
1500		SPN228	Spondyloepiphyseal Dysplasia, Nishimura Type	21
1501	P	PTR018	Paternal Uniparental Disomy of Chromosome 6	21
1502	c	ATR064	Atrioventricular Septal Defect 3	21
1503	c	HLP021	Holoprosencephaly 6	21
1504	c	MLG150	Malignant Hyperthermia 4	21
1505		ILL003	Illum Syndrome	21
1506		13Q001	13q12.3 Microdeletion Syndrome	21
1507	c	CCK004	Cockayne Syndrome Type Iii	21
1508		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	21
1509	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	21
1510		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	21
1511		LYM123	Lymphedema-Hypoparathyroidism Syndrome	21
1512		EXT062	Extracranial Carotid Artery Aneurysm	21
1513	c	CMR006	Camurati-Engelmann Disease, Type 2	21
1514		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	21
1515	c	ATS254	Autosomal Dominant Deafness-Onychodystrophy Syndrome	21
1516	c	LKD029	Leukodystrophy, Hypomyelinating, 16	21
1517	c	ATS310	Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related	21
1518	c	AML059	Amelogenesis Imperfecta, Type Ij	21
1519		FTL018	Fetal Indomethacin Syndrome	20
1520		SPS188	Spastic Paraplegia-Paget Disease of Bone Syndrome	20
1521	P	SPN237	Spina Bifida Aperta	20
1522		IST006	Isotretinoin Syndrome	20
1523		THY106	Thyroglossal Duct Cyst, Familial	20
1524		PRT131	Partial Trisomy Distal 4q	20
1525		DRM042	Dermatoosteolysis, Kirghizian Type	20
1526		CMP039	Camptodactyly 1	20
1527		ALR004	Alar Cleft, Isolated	20
1528		MTR027	Mitral Atresia	20
1529		OCL071	Oculocerebral Hypopigmentation Syndrome of Preus	20
1530		VNF001	Vein of Galen Aneurysm	20
1531		FCL068	Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome	20
1532		CHR416	Chromosome 17q Deletion	20
1533		ATR053	Atresia of Urethra	20
1534	c	46X011	46, Xy Disorders of Sexual Development	20
1535		ART162	Arthrogryposis Multiplex Congenita, Neurogenic, with Agenesis of the Corpus Callosum	20
1536		CRN311	Coronary Ostial Stenosis or Atresia	20
1537	c	OMP009	Omphalocele, Autosomal	20
1538		RTH002	Rutherfurd Syndrome	20
1539		MZB001	Mazabraud Syndrome	20
1540	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	20
1541		TRC114	Trichodental Dysplasia	20
1542	c	RNG025	Ring Chromosome 9	20
1543		PRM334	Primary Bone Dysplasia with Increased Bone Density	20
1544		DST059	Distal Trisomy 17q	20
1545	c	OCY002	Oocyte Maturation Defect 2	20
1546		PRG122	Prognathism, Mandibular	20
1547		FCD002	Faciodigitogenital Syndrome, Autosomal Recessive	19
1548		MSC017	Mosaic Trisomy 22	19
1549	P	CHR200	Chromosome 16 Trisomy	19
1550		CHR612	Chromosome 15q14 Deletion Syndrome	19
1551		ODN020	Odontoma-Dysphagia Syndrome	19
1552		ECT069	Ectodermal Dysplasia 8, Hair/tooth/nail Type	19
1553	c	AML064	Amelogenesis Imperfecta, Type Iiic	19
1554		HLP020	Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence	19
1555		FCL066	Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type	19
1556		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	19
1557		PRR029	Pierre Robin Syndrome and Oligodactyly	19
1558	c	OCY005	Oocyte Maturation Defect 4	19
1559		CNT104	Contractures, Congenital, Torticollis, and Malignant Hyperthermia	19
1560	c	MLG152	Malignant Hyperthermia 6	19
1561		1Q4001	1q44 Microdeletion Syndrome	19
1562		HYD021	Hydrocephalus Obesity Hypogonadism	19
1563		AML012	Ameloonychohypohidrotic Syndrome	19
1564		DBL007	Double Outlet Left Ventricle	19
1565	c	CHR227	Chromosome 20 Trisomy	19
1566		16P004	16p13.11 Microduplication Syndrome	19
1567		16P003	16p13.11 Microdeletion Syndrome	19
1568	c	CRN279	Cornea Plana 1, Autosomal Dominant	19
1569		VRR008	Verrucous Hemangioma	19
1570	c	SPN259	Spinocerebellar Ataxia 32	19
1571		CRV062	Cervical Spina Bifida Cystica	19
1572		HMF007	Hemifacial Hyperplasia with Strabismus	18
1573		EDN001	Edinburgh Malformation Syndrome	18
1574		GTR012	Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies	18
1575		STT008	Steatocystoma Multiplex with Natal Teeth	18
1576		SPC024	Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease	18
1577		PYK001	Pyknoachondrogenesis	18
1578		RDL030	Radial-Renal Syndrome	18
1579		SND006	Sonoda Syndrome	18
1580		UNL014	Unilateral Multicystic Dysplastic Kidney	18
1581	c	OCY007	Oocyte Maturation Defect 6	18
1582		17Q012	17q24.2 Microdeletion Syndrome	18
1583		HMR016	Humeroradioulnar Synostosis	18
1584		MCR317	Macrophthalmia, Colobomatous, with Microcornea	18
1585		ANR043	Aniridia and Absent Patella	18
1586	c	ATS311	Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related	18
1587		CNG347	Congenital Tricuspid Stenosis	18
1588	c	HYD067	Hydatidiform Mole, Recurrent, 3	18
1589		MCR303	Macrosomia with Microphthalmia, Lethal	18
1590		MTH070	Methimazole Antenatal Exposure	17
1591		DFN307	Deafness-Oligodontia Syndrome	17
1592		7P2001	7p22.1 Microduplication Syndrome	17
1593	c	LKD032	Leukodystrophy, Hypomyelinating, 19, Transient Infantile	17
1594	c	PTS018	Ptosis, Hereditary Congenital 1	17
1595		TBL027	Tubulinopathy-Associated Dysgyria	17
1596	c	PRG096	Pregnancy Loss, Recurrent 2	17
1597		NDL022	Nodular Neuronal Heterotopia	17
1598	c	PRG093	Pregnancy Loss, Recurrent 3	17
1599	P	ATS469	Autosomal Monosomy	17
1600		PLY134	Polydactyly, Postaxial, with Dental and Vertebral Anomalies	17
1601	c	TTL008	Total Spina Bifida Cystica	17
1602		DBL010	Double-Orifice Mitral Valve	17
1603		CRN192	Craniorhiny	17
1604	c	OCY006	Oocyte Maturation Defect 5	17
1605		ACR078	Acral Self-Healing Collodion Baby	17
1606		MSC079	Mosaic Trisomy 1	17
1607		HND012	Handigodu Joint Disease	17
1608		BKS002	Book Syndrome	17
1609		SPS196	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	17
1610		TRN017	Transient Neonatal Neutropenia	17
1611		ENC043	Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration	17
1612		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	17
1613		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	17
1614		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	17
1615		BRC095	Brachydactyly, Mononen Type	17
1616		CMP073	Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia	17
1617		XP2001	Xp22.3 Microdeletion Syndrome	17
1618	c	BNM031	Bone Mineral Density Quantitative Trait Locus 17	17
1619		GNC010	Genochondromatosis	17
1620		RTF001	Retiform Hemangioendothelioma	17
1621		TRG007	Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet	17
1622		THM021	Thumb Deformity and Alopecia	17
1623		LSS034	Lissencephaly Type Iii and Bone Dysplasia	16
1624	P	CNG600	Congenital Arteriovenous Fistula	16
1625	c	RNG014	Ring Chromosome 19	16
1626		CLB018	Coloboma of Eyelid	16
1627	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	16
1628	c	RNG011	Ring Chromosome 16	16
1629	c	CNG433	Congenital Cornea Plana	16
1630	c	SPN440	Spinocerebellar Ataxia, Autosomal Recessive 28	16
1631		EPP005	Epiphyseal Dysplasia Hearing Loss Dysmorphism	16
1632		NND006	Non-Distal Monosomy 20q	16
1633		TLP002	Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals	16
1634		UMB001	Umbilical Cord Ulceration and Intestinal Atresia	16
1635		CMM018	Common Mesentery	16
1636	c	NNS019	Nonsyndromic Holoprosencephaly	16
1637		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
1638		HRS037	Hirschsprung Disease with Type D Brachydactyly	16
1639		CLF034	Cleft Hard Palate	16
1640		VLF001	Velofacioskeletal Syndrome	16
1641		8Q1001	8q12 Microduplication Syndrome	16
1642		LNG102	Long-Thumb Brachydactyly Syndrome	16
1643		FRS011	First Branchial Cleft Anomaly	16
1644	c	PTR011	Paternal Uniparental Disomy of Chromosome 1	16
1645		ISL118	Isolated Tracheoesophageal Fistula	16
1646		CMP077	Composite Hemangioendothelioma	16
1647		CNT114	Central Nervous System Malformation	16
1648		ERL040	Early-Onset Sutural Cataract	16
1649		ECT091	Ectodermal Dysplasia with Natal Teeth, Turnpenny Type	16
1650		DDL001	Didelphys Uterus	16
1651		BWN005	Bowing of Long Bones Congenital	16
1652	c	AML056	Amelogenesis Imperfecta, Type Iiib	16
1653		PLY132	Polysyndactyly, Crossed	16
1654	c	OCY008	Oocyte Maturation Defect 7	16
1655		ECT087	Ectodermal Dysplasia, Trichoodontoonychial Type	16
1656		HYP727	Hypoglossia with Situs Inversus	16
1657		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	16
1658		DST035	Distal Trisomy 18q	16
1659		TRN013	Transient Neonatal Thrombocytopenia	15
1660	c	MTR067	Maternal Uniparental Disomy of Chromosome 16	15
1661		ERL037	Early-Onset Lamellar Cataract	15
1662		HRS038	Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features	15
1663		CLB008	Coloboma of Eye Lens	15
1664		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	15
1665		ORL024	Oral and Digital Anomalies with Ichthyosis	15
1666		CRY029	Cryptomicrotia-Brachydactyly Syndrome	15
1667	c	PTS010	Ptosis, Hereditary Congenital 2	15
1668		PTS017	Ptosis, Strabismus, and Ectopic Pupils	15
1669		OST061	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	15
1670		MCR242	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	15
1671		SBM006	Submucosal Cleft Palate	15
1672	c	CTR176	Cataract, Age-Related Nuclear	15
1673	c	RRM002	Rrm2b-Related Mitochondrial Disease	15
1674		FRN047	Frontonasal Dysplasia with Alar Clefts	15
1675	c	SPN107	Spinocerebellar Ataxia 9	15
1676		BLT020	Bilateral Multicystic Dysplastic Kidney	15
1677		CNG067	Congenital Cystic Eye	15
1678		WHB001	Wahab Syndrome	15
1679		SCR022	Sacral Meningocele Conotruncal Heart Defects	14
1680		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	14
1681		ANR045	Aneurysm of Interventricular Septum	14
1682		DLT013	Deletion 5q35	14
1683		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	14
1684		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	14
1685		CMP079	Complete Septate Uterus	14
1686		THR030	Thoraco Abdominal Enteric Duplication	14
1687		DRM038	Dermotrichic Syndrome	14
1688		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	14
1689		MSC080	Mosaic Trisomy 12	14
1690		RNL109	Renal Hypoplasia, Bilateral	14
1691		DST055	Distal 22q11.2 Microduplication Syndrome	14
1692		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	14
1693	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	14
1694		ART130	Arthrogryposis with Hyperkeratosis	14
1695		BNK001	Banki Syndrome	14
1696		PRB002	Proboscis Lateralis	14
1697		PLT010	Pili Torti Onychodysplasia	14
1698		PHL009	Phalangeal Microgeodic Syndrome	14
1699		CRY037	Cryptophthalmia	14
1700		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1701		ARC020	Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	14
1702		GRH002	Graham Boyle Troxell Syndrome	14
1703		ISL128	Isolated Microspherophakia	13
1704		CCN010	Cocaine Embryofetopathy	13
1705		MCR186	Microtriplication 11q24.1	13
1706		URC012	Urachal Sinus	13
1707		ANN015	Anonychia with Flexural Pigmentation	13
1708		URC013	Urachal Diverticulum	13
1709		ISL111	Isolated Arrhinia	13
1710	c	BNM021	Bone Mineral Density Quantitative Trait Locus 7	13
1711	P	DFN296	Deafness-Onychodystrophy Syndrome	13
1712		SBP003	Subependymal Nodular Heterotopia	13
1713		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	13
1714		CMP022	Camptodactyly Taurinuria	13
1715		PRT237	Partial Deletion of the Long Arm of Chromosome 16	13
1716		DFN310	Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy	13
1717		5Q3001	5q35 Microduplication Syndrome	13
1718		RRC028	Rare Congenital Non-Syndromic Heart Malformation	13
1719		PRT184	Partial Deletion of the Long Arm of Chromosome 11	13
1720		PRT206	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9	13
1721		EXS015	Exostoses with Anetodermia and Brachydactyly, Type E	13
1722		GZR001	Guizar Vasquez Sanchez Manzano Syndrome	13
1723		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	13
1724		PRM319	Primary Bone Dysplasia	13
1725		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	13
1726		LRY034	Laryngotracheal Angioma	13
1727		MDR001	Medeira-Dennis-Donnai Syndrome	13
1728		PRT178	Partial Deletion of the Long Arm of Chromosome 5	13
1729		OST142	Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	13
1730		KLM001	Klumpke Paralysis	13
1731	c	MTR057	Maternal Uniparental Disomy of Chromosome X	13
1732		20Q002	20q11.2 Microduplication Syndrome	13
1733		ART097	Aorto-Left Ventricular Tunnel	12
1734	c	CMP100	Campomelic Dysplasia and Related Disorders	12
1735	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	12
1736		PRP103	Peripapillary Staphyloma	12
1737		HYP671	Hypomyelination Neuropathy-Arthrogryposis Syndrome	12
1738		NND005	Non-Distal Trisomy 13q	12
1739		XQ1001	Xq12-Q13.3 Duplication Syndrome	12
1740		LBR027	Laubry-Pezzi Syndrome	12
1741		LPM011	Lip, Median Nodule of Upper	12
1742		TRN045	True Unicornuate Uterus	12
1743		GLS016	Glossopalatine Ankylosis	12
1744		SHR090	Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	12
1745		NND004	Non-Distal Monosomy 10q	12
1746		FBL015	Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	12
1747	c	EZH001	Ezh2-Related Overgrowth	12
1748		PRT180	Partial Deletion of the Long Arm of Chromosome 7	12
1749		PRT186	Partial Duplication of the Long Arm of Chromosome X	12
1750		XLN204	X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	12
1751		ANM077	Anomalous Aortic Origin of the Left Coronary Artery	11
1752		OST144	Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	11
1753		MDL028	Midline Cerebral Malformation	11
1754	c	RRC022	Rare Chromosomal Anomaly	11
1755		THR083	Third Branchial Cleft Anomaly	11
1756		FRN052	Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	11
1757	c	INT382	Intermediate Atrioventricular Septal Defect	11
1758		DYS044	Dysmorphism Cleft Palate Loose Skin	11
1759	c	MLT172	Multiple Metaphyseal Dysplasia	11
1760	c	CNG249	Congenital Pulmonary Venous Return Anomaly	11
1761	c	MTC199	Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis	11
1762		INV014	Inverse Klippel-Trenaunay Syndrome	11
1763		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	11
1764	c	BNM017	Bone Mineral Density Quantitative Trait Locus 2	11
1765		MCR357	Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	11
1766	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	11
1767		MTP011	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	11
1768		ONY006	Onychodystrophy-Anonychia	11
1769		CRV060	Cervical Dermoid Cyst	11
1770		PRT185	Partial Deletion of the Long Arm of Chromosome 13	11
1771		THN011	Thin Ribs-Tubular Bones-Dysmorphism Syndrome	11
1772	c	CNG405	Congenital Pulmonary Airway Malformation Type 4	11
1773	c	RRD018	Rare Disease with Pierre Robin Syndrome	10
1774		CNT077	Central Bilateral Macrogyria	10
1775		MRN008	Marin-Amat Syndrome	10
1776		PRT163	Partial Deletion of the Short Arm of Chromosome 5	10
1777		MSC087	Mosaic Trisomy 4	10
1778	c	CHR161	Chiari Malformation Type 3	10
1779	c	BNM023	Bone Mineral Density Quantitative Trait Locus 9	10
1780	c	BNM024	Bone Mineral Density Quantitative Trait Locus 10	10
1781	c	BNM026	Bone Mineral Density Quantitative Trait Locus 12	10
1782	c	BNM028	Bone Mineral Density Quantitative Trait Locus 14	10
1783	c	MCR185	Macrodactyly of Toes	10
1784		CNG575	Congenital Joint Dislocations	10
1785		CNG244	Congenital Laryngeal Cyst	10
1786		ATS453	Autosomal Anomaly	10
1787		PRT169	Partial Deletion of the Short Arm of Chromosome 11	10
1788		PRT219	Partial Duplication of the Short Arm of Chromosome 6	10
1789		PRM246	Primary Tethered Cord Syndrome	10
1790		MCR184	Macrodactyly of Fingers	10
1791		MSC088	Mosaic Trisomy 5	10
1792	c	EDR001	Eed-Related Overgrowth	10
1793	c	BNM019	Bone Mineral Density Quantitative Trait Locus 5	10
1794	c	FML317	Familial Monosomy 7 Syndrome	10
1795	c	ISC017	Isca2-Related Mitochondrial Disorder	10
1796		PRT164	Partial Deletion of the Short Arm of Chromosome 8	10
1797		PRT179	Partial Deletion of the Long Arm of Chromosome 6	10
1798		PRC042	Parachute Tricuspid Valve	10
1799	c	CNG251	Congenital Pericardium Anomaly	10
1800	c	BNM025	Bone Mineral Density Quantitative Trait Locus 11	9
1801	c	BNM027	Bone Mineral Density Quantitative Trait Locus 13	9
1802		SYN027	Syngnathia Cleft Palate	9
1803		CNG392	Congenital Pulmonary Veins Atresia or Stenosis	9
1804		ANG057	Angioosteohypotrophic Syndrome	9
1805	c	RRR004	Rare Arteriovenous Malformation	9
1806	c	AML063	Amelogenesis Imperfecta Type 2a1	9
1807	c	PRT205	Partial Trisomy of the Long Arm of Chromosome 5	9
1808		DST085	Distal Trisomy 2q	9
1809		RRV006	Rare Venous Malformation	9
1810		PRT187	Partial Duplication of Chromosome X	9
1811		SYN143	Syndromic Telecanthus	9
1812		DST081	Distal Trisomy 11q	9
1813		PRT106	Partial Duplication of the Short Arm of Chromosome X	9
1814	c	BNM014	Bone Mineral Density Quantitative Trait Locus 4	9
1815	c	BNM020	Bone Mineral Density Quantitative Trait Locus 6	9
1816		CNG272	Congenital Achiasma	9
1817		CNG490	Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome	9
1818		PNC130	Pancreatic Agenesis-Holoprosencephaly Syndrome	9
1819		SPN341	Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	9
1820		DST076	Distal Trisomy 13q	9
1821		INV017	Inverse Marcus-Gunn Phenomenon	9
1822		PRT218	Partial Duplication of the Short Arm of Chromosome 3	9
1823		PRT145	Partial Deletion of Chromosome 3	9
1824		PRT167	Partial Deletion of the Short Arm of Chromosome 9	9
1825		RNL107	Renal Dysplasia, Bilateral	9
1826	c	SCN085	Secondary Ectropion	9
1827		PRT236	Partial Deletion of the Long Arm of Chromosome 15	9
1828		PRT159	Partial Deletion of the Short Arm of Chromosome 1	9
1829		PRT228	Partial Duplication of Chromosome 1	8
1830		ISL047	Isolated Unilateral Hemispheric Cerebellar Hypoplasia	8
1831		MLT170	Multiple Congenital Anomalies/dysmorphic Syndrome	8
1832		ESP045	Esophageal Malformation	8
1833		PRT197	Partial Duplication of the Long Arm of Chromosome 15	8
1834		DST057	Distal Trisomy 19q	8
1835		RNL106	Renal Dysplasia, Unilateral	8
1836		CNG359	Congenitally Uncorrected Transposition of the Great Arteries with Coarctation	8
1837		SYN127	Syndromic Ectopia Lentis	8
1838		CNG517	Congenital Agenesis of the Scrotum	8
1839		CCH007	Cochleovestibular Dysplasia	8
1840	P	PRM337	Primary Osteolysis	8
1841		RNL108	Renal Hypoplasia, Unilateral	8
1842		3Q2004	3q26 Microduplication Syndrome	8
1843		TRS020	Tarsal Kink Syndrome	8
1844		PRT225	Partial Duplication of Chromosome 17	8
1845		ISL108	Isolated Splenogonadal Fusion	8
1846		CNG334	Congenital Esophageal Diverticulum	8
1847	c	KRN003	Kernicterus Due to Isoimmunization	8
1848		PRT177	Partial Deletion of the Long Arm of Chromosome 4	8
1849	c	PRT182	Partial Monosomy of the Long Arm of Chromosome 9	8
1850		CNG318	Congenital Genu Recurvatum	8
1851	P	RRC010	Rare Capillary Malformation	7
1852	P	PRT173	Partial Monosomy of the Short Arm of Chromosome 20	7
1853		PRT226	Partial Duplication of Chromosome 16	7
1854	P	NNS070	Non-Syndromic Cerebral Malformation	7
1855		PLY086	Polyrrhinia	7
1856		PRT151	Partial Deletion of Chromosome 16	7
1857		SPN437	Spondylodysplastic Dysplasia	7
1858		BNL004	Benallegue Lacete Syndrome	7
1859		ORF053	Orofacial Clefting Syndrome	7
1860		PRT146	Partial Deletion of Chromosome 8	7
1861		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	7
1862	c	BCK015	Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11	7
1863	c	PTR023	Paternal Uniparental Disomy of Chromosome 13	7
1864	c	PRT170	Partial Monosomy of the Short Arm of Chromosome 17	7
1865		FTL049	Fetal Carbamazepine Syndrome	7
1866		URG006	Urogenital Tract Malformation	7
1867		MLF005	Malformation Syndrome with Short Stature	6
1868		PRT143	Partial Deletion of Chromosome 5	6
1869		14Q003	14q11.2 Microduplication Syndrome	6
1870		OKH001	Okihiro Syndrome Due to a Point Mutation	6
1871		PRT189	Partial Duplication of the Long Arm of Chromosome 19	6
1872		RNN007	Reunion Island Larsen-Like Syndrome	6
1873	c	MTR065	Maternal Uniparental Disomy of Chromosome 21	6
1874	c	MTR079	Maternal Uniparental Disomy of Chromosome 13	6
1875		PRN015	Perinatal Intestinal Perforation	6
1876	c	YCH004	Y Chromosomal Anomaly	6
1877	c	CHR162	Chiari Malformation Type 4	6
1878	c	CRB128	Cerebrofacial Arteriovenous Metameric Syndrome Type 1	6
1879		CMM016	Commissural Lip Fistula	6
1880		DST058	Distal Monosomy 12p	6
1881		DST074	Distal Trisomy 20q	6
1882	c	RNL090	Renal Tubular Dysgenesis Due to Twin-Twin Transfusion	6
1883	c	GRD008	Grid2-Related Spinocerebellar Ataxia	6
1884		CLS025	Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency	6
1885		CLS027	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form	6
1886		CLS028	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form	6
1887		UPP009	Upper Limb Hypertrophy	6
1888	c	NNS047	Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration	6
1889		7Q3001	7q31 Microdeletion Syndrome	6
1890		PRT148	Partial Deletion of Chromosome 6	6
1891		DST054	Distal 17p13.3 Microdeletion Syndrome	6
1892		PRT222	Partial Duplication of Chromosome 8	6
1893		PRT229	Partial Duplication of Chromosome 2	6
1894	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	6
1895	c	PTR022	Paternal Uniparental Disomy of Chromosome 7	6
1896		TBL020	Tubular Duplication of the Esophagus	6
1897		NSN002	Nose and Cavum Anomaly	6
1898	c	RRD061	Rare Disorder with Ptosis	6
1899	c	CRB127	Cerebrofacial Arteriovenous Metameric Syndrome Type 3	5
1900		CLB023	Coloboma of Inferior Eyelid	5
1901		PRT172	Partial Deletion of the Short Arm of Chromosome 19	5
1902		PRT176	Partial Deletion of the Long Arm of Chromosome 3	5
1903		PRT192	Partial Duplication of the Long Arm of Chromosome 22	5
1904		PRT201	Partial Duplication of the Long Arm of Chromosome 3	5
1905		PRT209	Partial Duplication of the Short Arm of Chromosome 17	5
1906		INT186	Intralobar Congenital Pulmonary Sequestration	5
1907		CNG582	Congenital Disorder of Glycosylation with Deafness As a Major Feature	5
1908		DBL020	Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect	5
1909		DBL016	Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy	5
1910		DST077	Distal Trisomy 22q	5
1911		DST083	Distal Trisomy 9q	5
1912		SYN155	Syndromic Anorectal Malformation	5
1913		SYN145	Syndromic Epicanthus	5
1914		MLF009	Malformation of the Cerebellar Vermis	5
1915		PRT155	Partial Deletion of Chromosome 17	5
1916		PRT212	Partial Duplication of the Short Arm of Chromosome 16	5
1917		PRM320	Primary Bone Dysplasia with Micromelia	5
1918		LSS032	Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome	5
1919		DRG019	Drug-Related Renal Tubular Dysgenesis	5
1920		DST067	Distal Monosomy 14q	5
1921		PRM332	Primary Bone Dysplasia with Defective Bone Mineralization	5
1922		PRM333	Primary Bone Dysplasia with Decreased Bone Density	5
1923		NNT057	Neonatal Osteosclerotic Dysplasia	5
1924		PRM335	Primary Bone Dysplasia with Multiple Joint Dislocations	5
1925		PRM336	Primary Bone Dysplasia with Disorganized Development of Skeletal Components	5
1926		SLN010	Slender Bone Dysplasia	5
1927		RGH007	Right Inferior Vena Cava Connecting to Left-Sided Atrium	5
1928		CNG601	Congenital Tricuspid Malformation	5
1929		CNG438	Congenital Disorder of Glycosylation with Developmental Anomaly	5
1930		BCR005	Bicervical Bicornuate Uterus and Blind Hemivagina	5
1931		ABS021	Absence of Uterine Body	5
1932		PRR038	Pierre Robin Syndrome Associated with Bone Disease	5
1933	c	PRT194	Partial Trisomy of the Long Arm of Chromosome 9	5
1934		PRT198	Partial Duplication of the Long Arm of Chromosome 14	5
1935		PRT240	Partial Deletion of the Long Arm of Chromosome 19	5
1936		CNG571	Congenital Disorder of Glycosylation-Related Bone Disorder	5
1937		ISL117	Isolated Congenital Radial Head Dislocation	5
1938		CNG583	Congenital Urachal Anomaly	5
1939		STR107	Sterol Biosynthesis Disorder	5
1940		STR109	Structural Developmental Eye Defect	5
1941		CNG353	Congenital Partial Agenesis of Pericardium	5
1942		SYN169	Syndrome with a Central Nervous System Malformation As a Major Feature	5
1943		NNC007	Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency	5
1944		ERL060	Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia	5
1945	c	LSS018	Lissencephaly with Cerebellar Hypoplasia Type F	5
1946		ISL106	Isolated Congenital Microcephaly	4
1947	c	ATS022	Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract	4
1948		NNS046	Non-Syndromic Urogenital Tract Malformation	4
1949		LWS004	Low Isolated Anorectal Malformation	4
1950	c	TSS003	Tessier Number 6 Facial Cleft	4
1951		MDN007	Median Cleft Lip/mandibule	4
1952		MXD034	Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations	4
1953		2P1003	2p13.2 Microdeletion Syndrome	4
1954		PRT245	Partial Deletion of Chromosome 12	4
1955		CNT081	Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome	4
1956		MCR280	Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	4
1957		ARX004	Arx-Related Encephalopathy-Brain Malformation Spectrum	4
1958		4Q2002	4q25 Proximal Deletion Syndrome	4
1959		RRC020	Rare Congenital Anomaly of Ventricular Septum	4
1960		NND009	Non-Distal Trisomy 9q	4
1961		SYN141	Syndromic Renal or Urinary Tract Malformation	4
1962		RRP026	Rare Palpebral Disorder	4
1963		RRT022	Rare Atrial Defect and Interatrial Communication	4
1964	c	CNG593	Congenital Mitral Valve Insufficiency and/or Stenosis	4
1965	c	RRD045	Rare Disorder with Ectropion	4
1966	c	RRD027	Rare Disease with Malignant Hyperthermia	4
1967	c	BLT012	Bilateral Renal Agenesis Dominant Type	4
1968		PRT224	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12	4
1969		SYN166	Syndrome with a Dandy-Walker Malformation As a Major Feature	4
1970		MRF016	Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome	4
1971		ISL130	Isolated Congenital Entropion	4
1972		PRS139	Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium	4
1973		ISL071	Isolated Congenital Ectropion	4
1974		CNG598	Congenital Malformation of the Eye with Glaucoma As a Major Feature	4
1975		OTH025	Other Syndrome with Lissencephaly As a Major Feature	4
1976	c	XND001	X and Y Chromosomal Anomaly	4
1977	c	RRD046	Rare Disorder with Entropion	4
1978		HGH040	High Isolated Anorectal Malformation	4
1979		ISL107	Isolated Congenital Syngnathia	4
1980		PRT156	Partial Deletion of Chromosome 20	4
1981	c	XCH002	X Chromosome Number Anomaly	4
1982		MLF006	Malformation of the Neurenteric Canal, Spinal Cord and Column	4
1983		PRT243	Partial Duplication of the Short Arm of Chromosome 1	4
1984		HMZ005	Homozygous 2p21 Microdeletion Syndrome	4
1985		CNG576	Congenital Deformities of Fingers	4
1986		MCR187	Macrodactyly of Fingers, Bilateral	4
1987		LTH049	Lethal Multiple Congenital Anomalies/dysmorphic Syndrome	4
1988		OVR126	Overgrowth or Tall Stature Syndrome with Skeletal Involvement	4
1989		GNT161	Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy	4
1990		MYB004	Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	4
1991		NNS058	Non-Syndromic Renal or Urinary Tract Malformation	4
1992		SYN156	Syndrome with Limb Malformations As a Major Feature	4
1993		SYN157	Syndromic Respiratory or Mediastinal Malformation	4
1994		NNS064	Non-Syndromic Central Nervous System Malformation	4
1995		SYN159	Syndromic Diaphragmatic or Abdominal Wall Malformation	4
1996		SYN162	Syndromic Esophageal Malformation	4
1997	c	SYN028	Syngnathia Multiple Anomalies	3
1998		MLF004	Malformation Syndrome with Odontal and/or Periodontal Component	3
1999		MTR085	Maternal Disease-Related Embryofetopathy	3
2000	c	CNG565	Congenital Systemic Veins Anomaly	3
2001		TRC124	True Congenital Shoulder Dislocation	3
2002		DYS206	Dysostosis with Brachydactyly with Extraskeletal Manifestations	3
2003		CNG493	Congenital Generalized Hypercontractile Muscle Stiffness Syndrome	3
2004		ISL132	Isolated Megalopapilla	3
2005		ANT090	Anterior Segment Developmental Abnormality with Extraocular Manifestations	3
2006		RRT021	Rare Otorhinolaryngological Malformation	3
2007		CNG341	Congenital Anomaly of the Coronary Sinus	3
2008		STR075	Straddling or Overriding Tricuspid Valve	3
2009		PTL012	Patellar Dysostosis	3
2010		NNS060	Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy	3
2011		CNG349	Congenital Patent Ductus Arteriosus Aneurysm	3
2012		CNG361	Congenital Supravalvular Mitral Ring	3
2013		LNS007	Lens Shape Anomaly	3
2014		HRT042	Heart Position Anomaly	3
2015		SYN163	Syndromic Gastroduodenal Malformation	3
2016		PSD120	Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy	3
2017		RRV004	Rare Vaginal Malformation	3
2018		NNS051	Non-Syndromic Urogenital Tract Malformation of Male	3
2019		PRR037	Pierre Robin Syndrome Associated with a Chromosomal Anomaly	3
2020		TRT023	Teratogenic Pierre Robin Syndrome	3
2021		RRS007	Rare Syndrome with Cardiac Malformations	3
2022		PRT221	Partial Trisomy/tetrasomy of Chromosome 9	3
2023		PRT232	Partial Trisomy/tetrasomy of Chromosome 5	3
2024		LPM014	Lipoma Associated with Neurospinal Dysraphism	3
2025		OTH026	Other Syndrome with a Central Nervous System Malformation As a Major Feature	3
2026		CNT113	Central Nervous System Cystic Malformation	3
2027		INF180	Infantile Hemangioma of Rare Localization	3
2028		EPB005	Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome	3
2029	c	MTC198	Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes	3
2030		CNG321	Congenital Elbow Dislocation, Bilateral	3
2031		RRC017	Rare Capillary Malformation with Associated Anomalies	3
2032		DPH029	Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome	3
2033	c	TTL013	Total Autosomal Trisomy	3
2034		SXC006	Sex-Chromosome Structural Anomaly	3
2035	P	CHR690	Chromosome Y Structural Anomaly	3
2036	c	CHR691	Chromosome X Structural Anomaly	3
2037		MLF007	Malformation Syndrome with Hamartosis	3
2038		CRN315	Cranial Nerve and Nuclear Aplasia	3
2039		NNS063	Non-Syndromic Respiratory or Mediastinal Malformation	3
2040	c	PLM183	Pulmonary Hypoplasia, Familial Primary	3
2041		RRD017	Rare Developmental Defect with Connective Tissue Involvement	3
2042		RRH012	Rare Head and Neck Malformation	3
2043		PNN007	Pinnae and External Auditory Canal Anomaly	3
2044		TXC022	Toxic or Drug-Related Embryofetopathy	3
2045		ENC071	Encephaloclastic Disorder	3
2046		SYN167	Syndrome with Microcephaly As a Major Feature	3
2047		RRD038	Rare Disorder with Hirschsprung Disease As a Major Feature	3
2048		TRN077	Transposition of the Great Arteries and Conotruncal Cardiac Anomaly	3
2049		NNS067	Non-Syndromic Gastroduodenal Malformation	3
2050		NNS052	Non-Syndromic Urogenital Tract Malformation of Male and Female	2
2051		SYN107	Syndrome or Malformation Associated with Head and Neck Malformations	2
2052		ORM003	Oromandibular-Limb Anomalies Syndrome	2
2053		XCH001	X Chromosome Number Anomaly with Male Phenotype	2
2054		CHR693	Chromosomal Disease with Overgrowth	2
2055		NNS069	Non-Syndromic Esophageal Malformation	2
2056	P	TST021	Testicular Germ Cell Tumor	60
2057	c	TST046	Testicular Germ Cell Tumor 1	29
2058		UND001	Undifferentiated Embryonal Sarcoma of the Liver	30
2059	P	MDL005	Medulloblastoma	77
2060		GRC001	Gracile Syndrome	47
2061	c	ADL023	Adult Medulloblastoma	44
2062		WLL022	Well-Differentiated Fetal Adenocarcinoma of the Lung	16
2063		CHL031	Childhood Vagina Botryoid Rhabdomyosarcoma	7
2064		CHL048	Childhood Teratocarcinoma of the Testis	6
2065		NRL016	Neural Tube Defects	82
2066		MRF001	Marfan Syndrome	77
2067		PHN003	Phenylketonuria	75
2068	P	TTR001	Tetralogy of Fallot	70
2069	P	DMN001	Diamond-Blackfan Anemia	69
2070	P	ANG001	Angelman Syndrome	69
2071	P	CRN037	Craniosynostosis	68
2072		CST001	Costello Syndrome	68
2073	P	KBK002	Kabuki Syndrome 1	67
2074	P	CRB048	Cerebral Cavernous Malformations	67
2075	P	DYS007	Dyskeratosis Congenita	67
2076		FCL009	Focal Dermal Hypoplasia	66
2077		AND002	Androgen Insensitivity Syndrome	66
2078	c	MCL013	Mucolipidosis Iv	66
2079	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	65
2080		CRN036	Craniopharyngioma	65
2081	P	PSD087	Pseudoxanthoma Elasticum	65
2082	P	CLD001	Cleidocranial Dysplasia	65
2083	P	ART062	Arthrogryposis, Renal Dysfunction, and Cholestasis 1	65
2084	P	CMP005	Campomelic Dysplasia	64
2085		NRR002	Norrie Disease	64
2086		SPT006	Septooptic Dysplasia	64
2087	c	MCP049	Mucopolysaccharidosis, Type Vii	63
2088	P	HYP055	Hypoplastic Left Heart Syndrome	63
2089	P	CFF008	Coffin-Siris Syndrome 1	63
2090		ELL001	Ellis-Van Creveld Syndrome	62
2091	c	BRN108	Branchiootic Syndrome 1	62
2092		DNH001	Donohue Syndrome	62
2093	P	DNT020	Dent Disease 1	62
2094	P	THN009	Thanatophoric Dysplasia, Type I	62
2095		CHR619	Chromosome 2q35 Duplication Syndrome	62
2096		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	62
2097	P	CRN038	Carney Complex Variant	61
2098	P	HYP035	Hypophosphatasia	61
2099		ART141	Arteriovenous Malformations of the Brain	61
2100	c	ART144	Arthrogryposis, Distal, Type 1a	61
2101	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	61
2102	P	HMN010	Hemangioma	61
2103		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	60
2104		CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	60
2105	c	WLF013	Wolfram Syndrome 1	60
2106		STR039	Sturge-Weber Syndrome	60
2107	P	WLF004	Wolfram Syndrome	60
2108	P	CTR002	Cataract	60
2109		WLF002	Wolf-Hirschhorn Syndrome	59
2110		PRN019	Perinatal Necrotizing Enterocolitis	59
2111	P	ADM011	Adams-Oliver Syndrome	59
2112		MNK003	Muenke Syndrome	59
2113		PSD012	Pseudoachondroplasia	58
2114		FCL081	Focal Cortical Dysplasia, Type Ii	58
2115	P	MLT007	Multiple Epiphyseal Dysplasia	58
2116		MCS006	Macs Syndrome	58
2117		DST005	Diastrophic Dysplasia	58
2118	P	EHL001	Ehlers-Danlos Syndrome	58
2119		DNY001	Denys-Drash Syndrome	57
2120	P	ZLL001	Zellweger Syndrome	57
2121	c	OTP007	Otopalatodigital Syndrome, Type Ii	57
2122	c	ART061	Arthrogryposis, Distal, Type 2a	57
2123		ARS001	Aarskog-Scott Syndrome	57
2124		ENC044	Enchondromatosis, Multiple, Ollier Type	57
2125	c	LSS005	Lissencephaly 1	56
2126		DNN002	Donnai-Barrow Syndrome	56