Fetal Diseases Category (4152 diseases)

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

#	Family	MCID	Name	MIFTS
1		HYD038	Hydrops Fetalis, Nonimmune	49
2		HYD012	Hydrops Fetalis	51
3	P	EMB005	Embryonal Rhabdomyosarcoma	55
4		MCR078	Microphthalmia Microtia Fetal Akinesia	17
5		FTL028	Fetal Retinoid Syndrome	15
6		VLP002	Valproate Embryopathy	47
7		MTH070	Methimazole Antenatal Exposure	17
8	c	FTL006	Fetal Alcohol Spectrum Disorder	48
9		ACT091	Acitretin Embryopathy	6
10		FTL007	Fetal Hydantoin Syndrome	31
11		PRG092	Pregnancy Loss, Recurrent 1	27
12		IST007	Isotretinoin Embryopathy-Like Syndrome	24
13		IST006	Isotretinoin Syndrome	23
14		HYD059	Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect	37
15		NCH001	Nuchal Bleb, Familial	27
16	P	PRM252	Preimplantation Embryonic Lethality 1	16
17	P	OTS002	Otospondylomegaepiphyseal Dysplasia	44
18	c	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	43
19	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	41
20		EMB006	Embryonal Testis Carcinoma	34
21	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	27
22		CHL043	Childhood Embryonal Testis Carcinoma	9
23	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	22
24		MCR207	Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma	13
25	P	CNT003	Central Nervous System Embryonal Carcinoma	10
26		CRD031	Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification	8
27		PRP094	Propylthiouracil Embryofetopathy	5
28	P	FTL001	Fetal Alcohol Syndrome	59
29		PRS030	Persistent Fetal Circulation Syndrome	43
30	P	PNT019	Pontocerebellar Hypoplasia	41
31	c	PNT034	Pontocerebellar Hypoplasia, Type 2e	40
32	c	PNT036	Pontocerebellar Hypoplasia, Type 6	40
33		OVR050	Ovarian Embryonal Carcinoma	40
34	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	40
35	c	PNT018	Pontocerebellar Hypoplasia, Type 1b	37
36	c	PNT010	Pontocerebellar Hypoplasia Type 1	35
37	c	PNT045	Pontocerebellar Hypoplasia, Type 1a	33
38	c	PNT037	Pontocerebellar Hypoplasia, Type 3	32
39	c	PNT044	Pontocerebellar Hypoplasia, Type 2a	31
40	c	PNT033	Pontocerebellar Hypoplasia, Type 10	31
41	c	PNT035	Pontocerebellar Hypoplasia, Type 1c	30
42	c	PNT043	Pontocerebellar Hypoplasia, Type 4	30
43	c	PNT032	Pontocerebellar Hypoplasia, Type 9	29
44	c	PNT046	Pontocerebellar Hypoplasia, Type 5	28
45		GRM001	Germ Cell and Embryonal Cancer	27
46	c	PNT030	Pontocerebellar Hypoplasia, Type 8	25
47	c	PNT039	Pontocerebellar Hypoplasia, Type 7	25
48	c	PNT048	Pontocerebellar Hypoplasia, Type 2c	24
49	c	PNT047	Pontocerebellar Hypoplasia, Type 2b	24
50	c	PNT050	Pontocerebellar Hypoplasia, Type 11	23
51	c	PNT042	Pontocerebellar Hypoplasia, Type 2f	21
52	c	EXS014	Exosc3-Related Pontocerebellar Hypoplasia	10
53		CHL026	Childhood Ovarian Embryonal Carcinoma	9
54	c	TSN003	Tsen54-Related Pontocerebellar Hypoplasia	8
55		FTL004	Fetal Erythroblastosis	37
56		ACT206	Acitretin/etretinate Embryopathy	17
57		AMN013	Aminopterin/methotrexate Embryofetopathy	17
58		FTL066	Fetal Akinesia Syndrome, X-Linked	14
59	c	ADL007	Adult Central Nervous System Embryonal Carcinoma	7
60	P	TXP001	Toxoplasmosis	64
61	c	CNG021	Congenital Toxoplasmosis	57
62		CCN007	Cocoon Syndrome	40
63		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	20
64		FTL029	Fetal Thalidomide Syndrome	30
65		INT041	Intratubular Embryonal Carcinoma	27
66	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	16
67	c	PRM251	Preimplantation Embryonic Lethality 2	12
68	P	CTR002	Cataract	60
69	c	CTR130	Cataract 9, Multiple Types	41
70	c	CTR115	Cataract 16, Multiple Types	38
71	c	CTR118	Cataract 14, Multiple Types	37
72	c	CTR129	Cataract 31, Multiple Types	36
73	c	CTR170	Cataract 30, Multiple Types	36
74	c	CTR098	Cataract 1, Multiple Types	35
75	c	CTR141	Cataract 21, Multiple Types	33
76	c	CTR122	Cataract 5, Multiple Types	32
77	c	CTR125	Cataract 7	31
78	c	CTR145	Cataract 44	31
79	c	CTR103	Cataract 4, Multiple Types	31
80	c	CTR158	Cataract 37	31
81	c	CTR095	Cataract 8, Multiple Types	29
82	c	CTR096	Cataract 6, Multiple Types	29
83		FTL062	Fetal Iodine Deficiency Disorder	29
84	c	CTR102	Cataract 2, Multiple Types	28
85	c	CTR175	Cataract 24	28
86	c	CTR132	Cataract 3, Multiple Types	28
87	c	CTR121	Cataract 25	28
88	c	CTR174	Cataract 40	27
89	c	CTR124	Cataract 10, Multiple Types	27
90	c	CTR113	Cataract 11, Multiple Types	25
91		FTL016	Fetal Edema	25
92	c	CTR169	Cataract 29	25
93	c	CTR166	Cataract 33, Multiple Types	22
94	c	CTR131	Cataract 17, Multiple Types	22
95	c	CTR181	Cataract 18	22
96	c	CTR180	Cataract 22, Multiple Types	22
97	c	CTR184	Cataract 39, Multiple Types	22
98	c	CTR162	Cataract 47	21
99	c	CTR119	Cataract 32, Multiple Types	21
100	c	CTR105	Cataract 12, Multiple Types	21
101	c	CTR165	Cataract 19, Multiple Types	20
102	c	CTR159	Cataract 35	20
103	c	CTR182	Cataract 23, Multiple Types	20
104	c	CTR116	Cataract 15, Multiple Types	20
105	c	CTR183	Cataract 38	20
106	c	CTR136	Cataract 41	20
107	c	CTR097	Cataract 34, Multiple Types	20
108	c	CTR111	Cataract 36	20
109		HLP020	Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence	19
110	c	CTR163	Cataract 46, Juvenile-Onset	19
111	c	CTR139	Cataract 42	18
112	c	CTR178	Cataract 27	18
113	c	CTR157	Cataract 28	18
114		PRS010	Prostate Embryonal Rhabdomyosarcoma	18
115	c	CTR110	Cataract 26, Multiple Types	18
116	c	CTR106	Cataract 20, Multiple Types	18
117	c	CTR144	Cataract 43	18
118	c	CTR185	Cataract 30	17
119	c	CTR160	Cataract 45	17
120		MYC060	Mycophenolate Mofetil Embryopathy	17
121		ORB002	Orbit Embryonal Rhabdomyosarcoma	17
122		CCN010	Cocaine Embryofetopathy	16
123	c	CTR128	Cataract 33	14
124	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	14
125	c	CTR025	Cataract, Total Congenital	13
126	c	CTR008	Cataract Congenital Autosomal Dominant	7
127		EMB001	Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma	7
128		VLV013	Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma	6
129		NNC014	Non-Central Nervous System-Localized Embryonal Carcinoma	6
130		PDT006	Pediatric Cns Embryonal Cell Carcinoma	6
131		HYD027	Hydrops Fetalis Anemia Immune Disorder Absent Thumb	3
132		HRP013	Herpetic Embryopathy	2
133		VTM006	Vitamin a Embryopathy	2
134	c	RBN009	Robinow Syndrome, Autosomal Recessive	44
135	P	PRS062	Persistent Hyperplastic Primary Vitreous	40
136	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	39
137	c	RBN017	Robinow Syndrome, Autosomal Dominant 2	37
138		ALC001	Alcohol-Related Birth Defect	32
139	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	27
140	c	RBN010	Robinow-Like Syndrome	15
141	c	PRS137	Persistent Hyperplastic Primary Vitreous, Autosomal Dominant	9
142		EMB002	Embryoma	32
143		PRT001	Partial Fetal Alcohol Syndrome	23
144		PRM208	Parameningeal Embryonal Rhabdomyosarcoma	17
145		FTL058	Fetal Trimethadione Syndrome	17
146		FTL026	Fetal Parvovirus Syndrome	16
147	P	MCK013	Meckel Syndrome, Type 1	59
148		FTL021	Fetal Macrosomia	46
149	c	LTH008	Lethal Congenital Contracture Syndrome 2	46
150	c	ATS082	Autosomal Dominant Robinow Syndrome	45
151	c	LTH007	Lethal Congenital Contracture Syndrome 1	38
152	c	MCK033	Meckel Syndrome, Type 4	31
153	c	MCK012	Meckel Syndrome, Type 6	30
154	c	MCK030	Meckel Syndrome, Type 7	30
155	P	LTH003	Lethal Congenital Contracture Syndrome	27
156	c	LTH027	Lethal Congenital Contracture Syndrome 5	26
157	c	MCK032	Meckel Syndrome, Type 3	26
158	c	MCK031	Meckel Syndrome, Type 2	23
159	c	LTH031	Lethal Congenital Contracture Syndrome 6	23
160	c	MCK034	Meckel Syndrome, Type 8	23
161		PRX085	Preaxial Hallucal Polydactyly	23
162	c	LTH047	Lethal Congenital Contracture Syndrome 3	22
163	c	LTH039	Lethal Congenital Contracture Syndrome 11	22
164	c	MCK014	Meckel Syndrome, Type 5	22
165	c	MCK035	Meckel Syndrome, Type 10	22
166	c	MCK026	Meckel Syndrome 12	22
167	c	LTH029	Lethal Congenital Contracture Syndrome 9	21
168	c	LTH030	Lethal Congenital Contracture Syndrome 8	21
169		FTL005	Fetal Adenoma	21
170	c	LTH032	Lethal Congenital Contracture Syndrome 7	20
171	c	MCK036	Meckel Syndrome, Type 9	20
172	c	LTH026	Lethal Congenital Contracture Syndrome 4	20
173	c	MCK028	Meckel Syndrome 13	20
174	c	MCK020	Meckel Syndrome, Type 11	19
175		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	17
176		PRV001	Parovarian Cyst	16
177	c	SPR105	Sporadic Fetal Brain Disruption Sequence	14
178		FTL044	Fetal Cytomegalovirus Syndrome	14
179		CHL030	Childhood Botryoid Rhabdomyosarcoma	13
180		HYD062	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features	12
181		EMB014	Embryonary Disorganization Syndrome	12
182		FTL048	Fetal Lung Interstitial Tumor	12
183		DFN191	Deafness, Congenital Heart Defects, and Posterior Embryotoxon	10
184		THY113	Thymic Aplasia with Fetal Death	9
185	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	8
186	c	RR2001	Ror2-Related Robinow Syndrome	7
187		FTL020	Fetal Left Ventricular Aneurysm	7
188		FTL049	Fetal Carbamazepine Syndrome	5
189		MXD015	Mixed Type Rhabdomyosarcoma	5
190		LSS032	Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome	5
191		FTL063	Fetal Nicotine Spectrum Disorder	3
192		SMT021	Somatomedin, Embryonic	3
193		FTL025	Fetal Parainfluenza Virus Type 3 Syndrome	2
194		FTL027	Fetal Phenothiazine Syndrome	2
195		KPS004	Kaposi Sarcoma	73
196	P	HYD006	Hydrocephalus	69
197	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	67
198	P	CRN037	Craniosynostosis	67
199	P	CTS001	Cutis Laxa	62
200	c	ART115	Aortic Valve Disease 1	61
201	P	ANG001	Angelman Syndrome	61
202	P	EHL001	Ehlers-Danlos Syndrome	60
203	c	SPN327	Spinocerebellar Ataxia, Autosomal Recessive 1	60
204	c	SPN294	Spinocerebellar Ataxia 1	58
205	P	PLY006	Polydactyly	57
206	P	MCR010	Microcephaly	57
207		ANG020	Angiosarcoma	56
208		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	56
209	P	DST002	Distal Arthrogryposis	56
210	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	56
211	P	SPN301	Spinocerebellar Ataxia 2	56
212	P	SMP003	Simpson-Golabi-Behmel Syndrome	55
213	c	CWD006	Cowden Syndrome 1	55
214	P	MGL013	Megalencephaly	54
215	P	INF016	Infantile Epileptic Encephalopathy	54
216	c	SPN291	Spinocerebellar Ataxia 7	53
217		CLF004	Cleft Lip/palate	53
218		OLG003	Oligohydramnios	53
219		RTN209	Retinoschisis 1, X-Linked, Juvenile	53
220	P	MLT007	Multiple Epiphyseal Dysplasia	53
221	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	52
222	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	52
223		NWB001	Newborn Respiratory Distress Syndrome	52
224		CHR005	Chorioamnionitis	51
225	P	OMP004	Omphalocele	51
226	P	SYP003	Syphilis	51
227		NNT012	Neonatal Jaundice	51
228	P	BRC006	Brachydactyly	50
229		PLC007	Placental Abruption	50
230	P	SYR001	Syringomyelia	50
231		HNN001	Hennekam Syndrome	50
232	c	SPN309	Spinocerebellar Ataxia 6	49
233	c	HYP292	Hypophosphatasia, Infantile	49
234	P	PRS049	Persistent Mullerian Duct Syndrome	49
235	c	HYP293	Hypophosphatasia, Adult	49
236	P	EPT020	Epithelioid Hemangioendothelioma	49
237		HMF009	Hemifacial Hyperplasia	49
238		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	49
239	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	48
240	c	SPN293	Spinocerebellar Ataxia 12	48
241	P	LSS002	Lissencephaly	48
242	P	NNT009	Neonatal Diabetes Mellitus	48
243	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	47
244	c	TRC092	Trichorhinophalangeal Syndrome, Type I	47
245	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	47
246		PLY012	Polyhydramnios	47
247	c	SPN314	Spinocerebellar Ataxia 10	47
248	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	47
249	c	OPT051	Opitz Gbbb Syndrome, Type I	47
250	c	MCR256	Microphthalmia, Syndromic 9	46
251	P	CRN074	Coronary Artery Aneurysm	46
252	P	KLF001	Kleefstra Syndrome	46
253	c	EHL033	Ehlers-Danlos Syndrome, Classic Type	46
254	P	VSC013	Visceral Heterotaxy	46
255	c	SPN312	Spinocerebellar Ataxia 14	46
256	c	SPN296	Spinocerebellar Ataxia 17	46
257	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	46
258	c	USH021	Usher Syndrome, Type Iid	46
259	P	ENC008	Encephalocele	46
260		HYP347	Hypotonia-Cystinuria Syndrome	46
261	P	ART084	Arteriovenous Fistula	45
262	P	RDL002	Radioulnar Synostosis	45
263	c	USH035	Usher Syndrome Type 2	45
264	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	45
265	c	SPN100	Spinocerebellar Ataxia 27	45
266	c	LKD010	Leukodystrophy, Hypomyelinating, 2	45
267		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	45
268		PLC001	Placenta Accreta	45
269		MCR165	Microphthalmia with Limb Anomalies	45
270		VTR016	Vater/vacterl Association	45
271		CHN065	Choanal Atresia, Posterior	44
272		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	44
273	c	ART144	Arthrogryposis, Distal, Type 1a	44
274	c	USH037	Usher Syndrome, Type Iia	44
275	c	SPN311	Spinocerebellar Ataxia 13	44
276	c	MCP047	Mucopolysaccharidosis, Type Iva	44
277	c	LKD015	Leukodystrophy, Hypomyelinating, 3	44
278	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	43
279		MRG013	Mirage Syndrome	43
280	c	SPN305	Spinocerebellar Ataxia 11	43
281		HRT030	Hartsfield Syndrome	43
282	P	DNR001	Duane Retraction Syndrome	43
283		VNS013	Venous Malformations, Multiple Cutaneous and Mucosal	43
284		WRS002	Warsaw Breakage Syndrome	43
285	c	CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	42
286		ANM001	Anemia of Prematurity	42
287		TRC109	Tracheoesophageal Fistula with or Without Esophageal Atresia	42
288	P	ART018	Aortic Valve Insufficiency	42
289		LKD025	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	42
290		MNT317	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma	42
291	c	SPN265	Spinocerebellar Ataxia 36	42
292	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	42
293	c	ATS275	Autosomal Recessive Primary Microcephaly	42
294	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	41
295		PLL008	Pallister-Killian Syndrome	41
296	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	41
297	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	41
298	c	LKD019	Leukodystrophy, Hypomyelinating, 6	41
299	c	OPT050	Opitz Gbbb Syndrome, Type Ii	41
300	P	JVN008	Juvenile Glaucoma	41
301	c	USH040	Usher Syndrome, Type Id	41
302	P	MNN007	Meningocele	41
303	c	USH039	Usher Syndrome, Type Ic	41
304	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	41
305	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	41
306	c	PRN053	Porencephaly 1	41
307		ART002	Arts Syndrome	41
308		CHR386	Chromosome 6pter-P24 Deletion Syndrome	40
309		DND001	Dandy-Walker Syndrome	40
310	c	SCN006	Secondary Syphilis	40
311	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	40
312	c	SPN290	Spinocerebellar Ataxia 15	40
313	c	CNG033	Congenital Syphilis	40
314	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	40
315	c	SPN103	Spinocerebellar Ataxia 31	40
316		EPS026	Epispadias	40
317	c	SPN106	Spinocerebellar Ataxia 5	40
318	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	40
319		MCR103	Microtia	40
320	c	USH020	Usher Syndrome, Type Iic	40
321	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	39
322	c	MCR261	Microphthalmia, Syndromic 2	39
323	c	SPN308	Spinocerebellar Ataxia 28	39
324	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	39
325	P	HRD086	Hereditary Hypophosphatemic Rickets	39
326	P	ATR031	Atrial Septal Defect 4	39
327	c	CRN278	Craniosynostosis 1	39
328		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	38
329		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	38
330	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	38
331	P	CRC039	Coarctation of Aorta	38
332	c	SPN304	Spinocerebellar Ataxia 8	38
333	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	38
334		PYR031	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	38
335		VNM003	Van Maldergem Syndrome 1	38
336	c	LKD009	Leukodystrophy, Hypomyelinating, 5	38
337	c	LKD008	Leukodystrophy, Hypomyelinating, 4	37
338		SML028	Semilobar Holoprosencephaly	37
339		CHR667	Chromosome 3pter-P25 Deletion Syndrome	37
340	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	37
341	P	PRT042	Parietal Foramina	37
342	c	MNS014	Monosomy 22	37
343		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	37
344	c	SPN097	Spinocerebellar Ataxia 23	37
345	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	37
346		ALB014	Alobar Holoprosencephaly	36
347	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	36
348	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	36
349	c	PRM032	Primary Congenital Glaucoma	36
350		MND025	Mandibulofacial Dysostosis with Alopecia	36
351	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	36
352	c	USH042	Usher Syndrome, Type Ig	36
353	c	SPN299	Spinocerebellar Ataxia 20	36
354		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	36
355		PLM013	Pulmonary Immaturity	36
356	P	DXT004	Dextro-Looped Transposition of the Great Arteries	36
357	c	MCP051	Mucopolysaccharidosis, Type Ix	36
358		MDL020	Midline Interhemispheric Variant of Holoprosencephaly	36
359	c	USH041	Usher Syndrome, Type if	36
360	c	KNB006	Knobloch Syndrome 1	36
361	c	SPN094	Spinocerebellar Ataxia 18	36
362	P	CMM008	Communicating Hydrocephalus	35
363		OGD001	Ogden Syndrome	35
364		LBR025	Lobar Holoprosencephaly	35
365	c	GLC083	Glaucoma 3, Primary Infantile, B	35
366		CHR610	Chromosome 10q22.3-Q23.2 Deletion Syndrome	35
367	c	ATS076	Autosomal Recessive Stickler Syndrome	35
368		DGT009	Digitotalar Dysmorphism	35
369		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	35
370	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	35
371	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	35
372		OHD005	Ohdo Syndrome, Sbbys Variant	34
373	c	DNR003	Duane Retraction Syndrome 1	34
374		MCR173	Microform Holoprosencephaly	34
375		CHR387	Chromosome Xp21 Deletion Syndrome	34
376	P	MXD016	Mixed Gonadal Dysgenesis	34
377	P	GLP001	Geleophysic Dysplasia	34
378	c	MCL016	Mucolipidosis Iii Gamma	34
379		CHR501	Chromosome 17q12 Deletion Syndrome	34
380		TRM011	Terminal Osseous Dysplasia	34
381		CHR382	Chromosome 18q Deletion Syndrome	34
382	c	CNG379	Congenital Disorder of Glycosylation, Type It	34
383		SPN331	Spondyloocular Syndrome	33
384		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	33
385	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	33
386	c	HYD060	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	33
387		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	33
388		NNT004	Neonatal Respiratory Failure	33
389	c	GLP003	Geleophysic Dysplasia 1	33
390		PLM151	Pulmonary Arteriovenous Fistulas	33
391	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	33
392		BRC004	Brachydactyly-Syndactyly Syndrome	33
393	c	CNG195	Congenital Disorder of Glycosylation, Type Id	33
394	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	33
395		SHR059	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	33
396		CHR377	Chromosome 10q26 Deletion Syndrome	33
397		PLC009	Placenta Praevia	33
398	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	32
399	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	32
400	c	MTR051	Maternal Uniparental Disomy of Chromosome 1	32
401	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	32
402	c	SPN266	Spinocerebellar Ataxia 35	32
403	P	KNB001	Knobloch Syndrome	32
404		NNT005	Neonatal Candidiasis	32
405	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	32
406	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	32
407	c	SPN101	Spinocerebellar Ataxia 29	32
408		DST008	Diastematomyelia	32
409	P	OMD003	Omodysplasia	32
410		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	32
411		ISL062	Isolated Plagiocephaly	32
412	c	SPN105	Spinocerebellar Ataxia 4	31
413	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	31
414	c	SPN095	Spinocerebellar Ataxia 19	31
415		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	31
416	c	GLP004	Geleophysic Dysplasia 2	31
417	c	WLL036	Weill-Marchesani Syndrome 1	31
418		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	31
419		OSC001	Oeis Complex	31
420	c	PRM022	Primary Syphilis	31
421	P	ACR093	Acrofrontofacionasal Dysostosis	31
422	c	OVR075	Ovarian Dysgenesis 1	31
423	P	HYP700	Hypomyelinating Leukodystrophy	31
424		CLB017	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	31
425		SPT016	Septopreoptic Holoprosencephaly	31
426	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	31
427	c	SPN099	Spinocerebellar Ataxia 26	31
428	c	ATR022	Atrial Septal Defect 3	30
429		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	30
430	c	LSS010	Lissencephaly 4	30
431	c	KLF004	Kleefstra Syndrome 1	30
432		MCR099	Microlissencephaly	30
433	c	ATR066	Atrial Septal Defect 2	30
434		SPN012	Spindle Cell Hemangioma	30
435		ALG027	Al-Gazali-Bakalinova Syndrome	30
436	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	30
437	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	30
438		THR017	Thoracoabdominal Syndrome	30
439	c	MCR247	Microcephaly 1, Primary, Autosomal Recessive	30
440	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
441	c	SPN096	Spinocerebellar Ataxia 21	30
442	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	30
443	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	30
444	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	30
445		NRN022	Neurenteric Cyst	30
446	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	30
447		CRN264	Craniosynostosis with Fibular Aplasia	30
448		GLM012	Glomuvenous Malformations	30
449	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	30
450		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	30
451	c	SCK009	Seckel Syndrome 1	30
452	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
453	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
454	c	SPN104	Spinocerebellar Ataxia 34	29
455	P	BRC003	Brachyolmia	29
456	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	29
457		MCR183	Microcephaly-Capillary Malformation Syndrome	29
458	c	WLL037	Weill-Marchesani Syndrome 2	29
459	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	29
460		ISL121	Isolated Split Hand-Split Foot Malformation	29
461		MCR096	Macrocephaly/autism Syndrome	29
462		ISL109	Isolated Cleft Lip	29
463	c	HYD043	Hydrocephalus, Nonsyndromic, Autosomal Recessive 2	29
464	c	ACQ027	Acquired Cutis Laxa	29
465		VND005	Van Den Ende-Gupta Syndrome	29
466		GLS018	Glass Syndrome	29
467	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
468		PRP093	Pierpont Syndrome	29
469		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	29
470	c	SCK011	Seckel Syndrome 5	29
471		UNV002	Univentricular Heart	29
472	c	RBN008	Rubinstein-Taybi Syndrome 2	29
473		WTT002	Witteveen-Kolk Syndrome	29
474	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	29
475	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	29
476		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	28
477	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	28
478	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	28
479		INT276	Interatrial Communication	28
480	c	USH031	Usher Syndrome, Type Ij	28
481	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	28
482	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	28
483	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	28
484		HYP674	Hyperostosis Cranialis Interna	28
485		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	28
486	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	28
487		LRY022	Laryngoonychocutaneous Syndrome	28
488		OCC011	Occipital Encephalocele	28
489		BRN133	Bronchomalacia	28
490	c	CNG198	Congenital Disorder of Glycosylation, Type Il	28
491	c	CRN277	Craniosynostosis 2	28
492	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	28
493	c	MCR239	Microcephaly 5, Primary, Autosomal Recessive	28
494	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	28
495	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	28
496		HYP679	Hypoglossia-Hypodactylia	28
497		SCR035	Sacral Agenesis with Vertebral Anomalies	28
498	c	SYN084	Synpolydactyly 1	28
499		UVL009	Uvula, Bifid	28
500	c	SCK010	Seckel Syndrome 4	28
501		ISL096	Isolated Klippel-Feil Syndrome	28
502	c	USH030	Usher Syndrome, Type Ik	28
503	P	TRS029	Trisomy 1q	27
504	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	27
505	c	SPN383	Spinocerebellar Ataxia 42	27
506	c	ERL012	Early-Onset Glaucoma	27
507	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	27
508	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	27
509		RHM015	Rhombencephalosynapsis	27
510		ALZ030	Alazami Syndrome	27
511		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	27
512		MLL011	Mullerian Aplasia and Hyperandrogenism	27
513	c	SPN098	Spinocerebellar Ataxia 25	27
514		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	27
515	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	27
516		TRC007	Tricuspid Valve Prolapse	27
517		CNS013	Constricting Bands, Congenital	27
518	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	27
519		TTT001	Tatton-Brown-Rahman Syndrome	27
520		CRB147	Cerebellofaciodental Syndrome	27
521	c	SPN247	Spinocerebellar Ataxia Type 19/22	27
522	c	SPN283	Spinocerebellar Ataxia 37	27
523		CLF028	Cleft Soft Palate	27
524	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	27
525	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	27
526		PRM206	Premature Aging Syndrome, Penttinen Type	27
527	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	27
528		TTR014	Tetrasomy 18p	27
529	c	SPN284	Spinocerebellar Ataxia 38	27
530		STL007	Steel Syndrome	26
531		TKN001	Takenouchi-Kosaki Syndrome	26
532	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	26
533	c	ART104	Arthrogryposis, Distal, Type 5d	26
534		CHR399	Chromosome 4q21 Deletion Syndrome	26
535	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	26
536		SHR103	Short Stature, Developmental Delay, and Congenital Heart Defects	26
537	c	MCR252	Microphthalmia, Syndromic 5	26
538	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	26
539	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	26
540	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	26
541	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	26
542	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	26
543	c	CNG207	Congenital Disorder of Glycosylation, Type Io	26
544	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	26
545	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	26
546		ISL011	Isolated Aniridia	26
547	c	BRC062	Brachydactyly, Type D	26
548	c	USH044	Usher Syndrome, Type Iiib	26
549	c	TRS012	Trisomy 22	26
550	c	SPN372	Spinocerebellar Ataxia 43	26
551		ISL061	Isolated Brachycephaly	26
552	P	ART034	Aortopulmonary Window	26
553	P	SCL047	Sclerocornea	26
554	c	HTR009	Heterotaxy, Visceral, 2, Autosomal	26
555	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	26
556	c	LKD020	Leukodystrophy, Hypomyelinating, 10	26
557	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	26
558	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	26
559	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
560		ISL089	Isolated Scaphocephaly	26
561	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	26
562		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	26
563	c	BSL030	Basal Encephalocele	25
564		CRN049	Craniolenticulosutural Dysplasia	25
565	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
566	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	25
567	c	LKD022	Leukodystrophy, Hypomyelinating, 13	25
568	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	25
569	P	PRD037	Periodontal Ehlers-Danlos Syndrome	25
570	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	25
571		WLL012	Williams-Beuren Region Duplication Syndrome	25
572		ATR055	Atrial Septal Aneurysm	25
573	c	CRN217	Craniosynostosis 3	25
574		BRC120	Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes	25
575	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	25
576		DGT002	Digital Clubbing, Isolated Congenital	25
577	c	45X001	45,x/46,xy Mixed Gonadal Dysgenesis	25
578		PRT043	Parietal Foramina with Cleidocranial Dysplasia	25
579	P	SPN127	Spondyloepimetaphyseal Dysplasia Joint Laxity	25
580	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	25
581	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	25
582	P	NNT006	Neonatal Myasthenia Gravis	25
583		CRL006	Caroli Disease, Isolated	25
584	c	PRT059	Parietal Foramina 1	25
585		TTR027	Tetrasomy 15q26	25
586		CHR590	Chromosome 15q11-Q13 Duplication Syndrome	25
587	c	MCR212	Microphthalmia, Syndromic 12	25
588		LBN004	Liebenberg Syndrome	25
589	P	FRN033	Frontonasal Dysplasia 2	25
590		ANG062	Angioosteohypertrophic Syndrome	25
591	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
592		PNL023	Penile Agenesis	25
593		CLF049	Cleft Lip and Alveolus	25
594	c	CRN281	Craniosynostosis 7	25
595		SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	25
596		PLY110	Polymicrogyria, Bilateral Temporooccipital	25
597	c	LTC001	Late Congenital Syphilis	25
598	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	25
599	c	PRT060	Parietal Foramina 2	25
600	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	25
601		CHR366	Chromosome 5p13 Duplication Syndrome	25
602		MYM012	Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism	24
603	P	KNN002	Kenny-Caffey Syndrome	24
604		RGH006	Right Aortic Arch	24
605		PHK008	Phakomatosis Cesioflammea	24
606		CHR379	Chromosome 15q26-Qter Deletion Syndrome	24
607		TTR019	Tetrasomy 5p	24
608	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	24
609		MYL044	Myelocystocele	24
610	P	PLM064	Pulmonary Sequestration	24
611	c	ART122	Arthrogryposis, Distal, Type 8	24
612	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	24
613	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	24
614	c	LKD016	Leukodystrophy, Hypomyelinating, 9	24
615	c	ACR103	Acrofrontofacionasal Dysostosis 1	24
616	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	24
617	P	SPN237	Spina Bifida Aperta	24
618		ATR088	Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects	24
619	c	CWD008	Cowden Syndrome 6	24
620		UTR054	Uterine Hypoplasia	24
621		CRN266	Craniofacial Dyssynostosis with Short Stature	24
622		BSL045	Basel-Vanagaite-Smirin-Yosef Syndrome	24
623		PRT101	Poretti-Boltshauser Syndrome	24
624	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	24
625		LMB069	Lamb-Shaffer Syndrome	24
626	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	24
627	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
628		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	24
629	c	SCK015	Seckel Syndrome 2	24
630	c	WLL038	Weill-Marchesani Syndrome 3	24
631		CRS011	Criss-Cross Heart	24
632		FNT003	Fountain Syndrome	24
633	c	ERL002	Early Congenital Syphilis	24
634	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	24
635		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	24
636	c	SPN286	Spinocerebellar Ataxia 40	24
637	c	CWD004	Cowden Syndrome 5	24
638	c	MCR228	Microphthalmia, Syndromic 13	23
639	c	STS007	Sotos Syndrome 2	23
640	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	23
641	P	OVR076	Ovarian Dysgenesis 2	23
642		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	23
643		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	23
644		CHR586	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb	23
645	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	23
646	c	FRN037	Frontal Encephalocele	23
647	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	23
648	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	23
649		PTL010	Patella Aplasia-Hypoplasia	23
650		SPN208	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	23
651	c	WLL040	Weill-Marchesani Syndrome 4	23
652		GRW039	Growth Retardation, Developmental Delay, and Facial Dysmorphism	23
653		ASS004	Aase-Smith Syndrome I	23
654	c	LKD023	Leukodystrophy, Hypomyelinating, 12	23
655	c	ATR062	Atrial Septal Defect 1	23
656		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	23
657		PYR025	Pyruvate Dehydrogenase E2 Deficiency	23
658	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	23
659	c	LKD021	Leukodystrophy, Hypomyelinating, 11	23
660		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	23
661		CHR487	Chromosome 8q21.11 Deletion Syndrome	23
662	P	PTR018	Paternal Uniparental Disomy of Chromosome 6	23
663	c	SPN323	Spinocerebellar Ataxia 41	23
664		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	23
665	c	ATR023	Atrial Septal Defect 5	23
666		CHR616	Chromosome 19q13.11 Deletion Syndrome, Distal	23
667	P	TRC031	Trichorhinophalangeal Syndrome	23
668		HYP714	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	23
669	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	23
670		MCR310	Microgastria-Limb Reduction Defects Association	23
671	c	SCK029	Seckel Syndrome 7	23
672		TRG019	Trigonocephaly with Short Stature and Developmental Delay	23
673		DSN002	Desanto-Shinawi Syndrome	23
674	c	BRC060	Brachydactyly, Type E2	23
675	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	23
676	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	22
677		SPN365	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	22
678		ATY022	Atypical Coarctation of Aorta	22
679	c	MLG145	Malignant Epithelioid Hemangioendothelioma	22
680	c	CWD007	Cowden Syndrome 3	22
681	P	ACR072	Acrorenal Syndrome	22
682	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	22
683		ACR101	Acrocraniofacial Dysostosis	22
684		ULN023	Ulnar Hypoplasia	22
685	c	CRN216	Craniosynostosis 5	22
686	c	BRC108	Brachydactyly, Type A3	22
687		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	22
688		PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	22
689	c	BRC052	Brachydactyly, Type B2	22
690	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	22
691		BRN129	Branchial Cleft Anomalies	22
692		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	22
693	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	22
694		DPR014	Diprosopus	22
695	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	22
696		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	22
697		MLR023	Melorheostosis, Isolated	22
698		MCR355	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy	22
699	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	22
700		ADD006	Adducted Thumbs Syndrome	22
701	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	22
702	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	22
703	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	22
704	c	LSS009	Lissencephaly 3	22
705		HMH003	Hemihyperplasia-Multiple Lipomatosis Syndrome	22
706	c	FNG009	Feingold Syndrome 2	22
707	c	MCR248	Microcephaly 3, Primary, Autosomal Recessive	22
708	c	MCR320	Microcephaly 17, Primary, Autosomal Recessive	22
709	c	BRC080	Brachydactyly, Type A1, B	22
710	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	22
711	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	22
712	c	MCR217	Microphthalmia, Syndromic 11	22
713	c	MCR269	Microcephaly 15, Primary, Autosomal Recessive	22
714	P	ACR020	Acropectorovertebral Dysplasia	22
715	c	SCK038	Seckel Syndrome 10	22
716	c	CNG514	Congenital Radioulnar Synostosis	22
717	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	22
718		CHR502	Chromosome 17q12 Duplication Syndrome	22
719	c	ART131	Arthrogryposis, Distal, Type 4	22
720	c	FRN032	Frontonasal Dysplasia 3	22
721	c	MNS008	Monosomy 21	22
722	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	22
723	c	HTR018	Heterotaxy, Visceral, 7, Autosomal	21
724		CHR620	Chromosome 16p11.2 Deletion Syndrome, 220-Kb	21
725	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	21
726	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	21
727	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	21
728	c	MCR254	Microcephaly 4, Primary, Autosomal Recessive	21
729	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	21
730		MSL005	Mseleni Joint Disease	21
731		DVL018	Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair	21
732	c	LSS030	Lissencephaly 7 with Cerebellar Hypoplasia	21
733	c	SPN259	Spinocerebellar Ataxia 32	21
734		LTH011	Lethal Arthrogryposis with Anterior Horn Cell Disease	21
735	c	SCN048	Secondary Syringomyelia	21
736		MSC089	Mosaic Monosomy X	21
737		MCR321	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation	21
738		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	21
739	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	21
740		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	21
741		ISL087	Isolated Oxycephaly	21
742		YNH001	Yuan-Harel-Lupski Syndrome	21
743	P	MNS011	Monosomy 9q22.3	21
744	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	21
745	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	21
746		MNS012	Monostotic Fibrous Dysplasia	21
747		FCL047	Facial Clefting, Oblique, 1	21
748	c	LSS035	Lissencephaly 8	21
749	c	BRC075	Brachydactyly, Type A1, C	21
750	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	21
751	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	21
752		CHR483	Chromosome 3q13.31 Deletion Syndrome	21
753	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	21
754	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	21
755	c	BRC105	Brachydactyly, Type A1, D	21
756		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	21
757	c	CRN256	Craniosynostosis 6	21
758	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	21
759		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	21
760	P	ERL043	Early-Onset Nuclear Cataract	21
761	c	SPN420	Spinocerebellar Ataxia 46	21
762		MCR220	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus	21
763	c	SCK033	Seckel Syndrome 8	21
764	c	EPL129	Epileptic Encephalopathy, Early Infantile, 25	21
765		MCR354	Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures	21
766		CRN200	Craniosynostosis and Dental Anomalies	21
767		DYS134	Dysspondyloenchondromatosis	21
768	c	EHL065	Ehlers-Danlos Syndrome, Type V	21
769	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	21
770	c	APR009	Aprosencephaly Syndrome	21
771	c	CTS031	Cutis Laxa, Autosomal Dominant 2	21
772		PLV015	Pelvis-Shoulder Dysplasia	21
773		CLV012	Clavicle, Pseudarthrosis of, Congenital	21
774		CMP069	Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome	21
775	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	21
776	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	21
777	c	SCK037	Seckel Syndrome 9	20
778	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	20
779	c	CTR176	Cataract, Age-Related Nuclear	20
780	c	SPN419	Spinocerebellar Ataxia 45	20
781		ISL084	Isolated Trigonocephaly	20
782	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	20
783		CRV063	Cervical Spina Bifida Aperta	20
784		HRR005	Harrod Syndrome	20
785		MYP038	Myopathy, Congenital, Compton-North	20
786	c	MCR250	Microcephaly 6, Primary, Autosomal Recessive	20
787	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	20
788		EPP011	Epiphyseal Chondrodysplasia, Miura Type	20
789		MCR353	Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome	20
790	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	20
791		SPS207	Spastic Paraplegia and Psychomotor Retardation with or Without Seizures	20
792		HYD048	Hydrocephalus with Stenosis of the Aqueduct of Sylvius	20
793	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	20
794	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	20
795	c	BRC053	Brachyolmia Type 2	20
796		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	20
797	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	20
798		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	20
799		2Q3005	2q31.1 Microdeletion Syndrome	20
800		PRP101	Peripheral Pulmonary Stenosis	20
801		STP011	Stapes Ankylosis with Broad Thumbs and Toes	20
802	c	ATR034	Atrial Septal Defect 6	20
803	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	20
804	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	20
805	c	SYN088	Synpolydactyly 2	20
806	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	20
807	c	CWD009	Cowden Syndrome 7	20
808	c	STC012	Stickler Syndrome, Type Iv	20
809	c	SPN418	Spinocerebellar Ataxia 44	20
810		VCT008	Vacterl with Hydrocephalus	20
811	c	MCR255	Microcephaly 9, Primary, Autosomal Recessive	20
812		CNT104	Contractures, Congenital, Torticollis, and Malignant Hyperthermia	20
813	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	20
814	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	20
815		CHR393	Chromosome 19p13.13 Deletion Syndrome	20
816		NTH002	Nathalie Syndrome	20
817	c	ART060	Arthrogryposis, Distal, Type 1b	20
818	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	20
819	c	SPN102	Spinocerebellar Ataxia 30	20
820		6QT002	6q Terminal Deletion Syndrome	20
821		MCR311	Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome	20
822		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	20
823	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	20
824		LVC002	Levocardia	20
825		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	20
826	c	GLC054	Glaucoma 3, Primary Congenital, D	20
827	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	20
828		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	20
829		VGN031	Vaginal Atresia	20
830	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	20
831		CRV062	Cervical Spina Bifida Cystica	20
832		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	20
833	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	20
834	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	20
835		LMB056	Lumbosacral Spina Bifida Cystica	20
836		OCL057	Oculotrichodysplasia	20
837		DST059	Distal Trisomy 17q	20
838		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	20
839		ABS020	Absent Eyebrows and Eyelashes with Mental Retardation	20
840	c	MCR312	Microphthalmia, Syndromic 10	20
841		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	19
842	c	OVR107	Ovarian Dysgenesis 4	19
843		RFM002	Roifman-Chitayat Syndrome	19
844		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	19
845		RDL022	Radial Hemimelia	19
846	c	HTR023	Heterotaxy, Visceral, 6, Autosomal	19
847		EHL064	Ehlers-Danlos Syndrome, Arthrochalasis Type	19
848		CRT069	Cortical Malformations, Occipital	19
849		GRM003	German Syndrome	19
850		THY105	Thyrocerebroretinal Syndrome	19
851		CHR612	Chromosome 15q14 Deletion Syndrome	19
852		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	19
853		FCD002	Faciodigitogenital Syndrome, Autosomal Recessive	19
854		CTN032	Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia	19
855	c	DNR004	Duane Retraction Syndrome 2	19
856	c	FCL030	Facial Paresis, Hereditary Congenital, 1	19
857	c	MCR238	Microcephaly 7, Primary, Autosomal Recessive	19
858		CRN197	Coronary Arterial Fistulas	19
859	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	19
860		MSM018	Mesomelic Limb Shortening and Bowing	19
861	c	STC011	Stickler Syndrome, Type V	19
862	c	MCR243	Microcephaly 8, Primary, Autosomal Recessive	19
863	c	PRN047	Porencephaly 2	19
864	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	19
865	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	19
866		CHR362	Chromosome 17q21.31 Duplication Syndrome	19
867	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	19
868		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	19
869		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	19
870	c	TTL009	Total Spina Bifida Aperta	19
871		THR085	Thoracolumbosacral Spina Bifida Aperta	19
872		LMB057	Lumbosacral Spina Bifida Aperta	19
873		CRV064	Cervicothoracic Spina Bifida Aperta	19
874		UPP008	Upper Thoracic Spina Bifida Aperta	19
875		TTL008	Total Spina Bifida Cystica	19
876		THR084	Thoracolumbosacral Spina Bifida Cystica	19
877		CRV061	Cervicothoracic Spina Bifida Cystica	19
878		UPP007	Upper Thoracic Spina Bifida Cystica	19
879		TTR018	Tetragametic Chimerism	19
880		MCR307	Microspherophakia-Metaphyseal Dysplasia	19
881		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	19
882		CHR621	Chromosome 16p11.2 Deletion Syndrome, 593-Kb	19
883		CMB063	Combined Oxidative Phosphorylation Deficiency 25	19
884	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	19
885		FCL064	Facial Dysmorphism with Multiple Malformations	19
886	c	SPN107	Spinocerebellar Ataxia 9	19
887		HYP524	Hypoinsulinemic Hypoglycemia with Hemihypertrophy	19
888		PCT002	Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails	19
889	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	19
890		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	19
891		MSC081	Mosaic Trisomy 15	19
892	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	19
893	c	CWD003	Cowden Syndrome 2	19
894	c	CWD005	Cowden Syndrome 4	19
895		CRN224	Craniofaciofrontodigital Syndrome	19
896		DST044	Distal Trisomy 14q	19
897	c	FCL056	Facial Paresis, Hereditary Congenital, 3	19
898		CLF047	Cleft-Limb-Heart Malformation Syndrome	18
899		8PN001	8p Inverted Duplication/deletion Syndrome	18
900		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	18
901		OPH014	Ophthalmomandibulomelic Dysplasia	18
902		CHR584	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb	18
903	c	HTR020	Heterotaxy, Visceral, 8, Autosomal	18
904		SPR065	Supernumerary Nostril	18
905	c	MCR249	Microcephaly 11, Primary, Autosomal Recessive	18
906	c	USH043	Usher Syndrome, Type Ih	18
907	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	18
908		MCR302	Macrostomia, Isolated	18
909		TRC114	Trichodental Dysplasia	18
910		3P2001	3p25.3 Microdeletion Syndrome	18
911		CMP039	Camptodactyly 1	18
912		11Q001	11q22.2q22.3 Microdeletion Syndrome	18
913		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	18
914	c	PSD047	Pseudo-Turner Syndrome	18
915		CNG347	Congenital Tricuspid Stenosis	18
916		OCL070	Oculopalatocerebral Syndrome	18
917	P	RNG031	Ring Chromosome Y Syndrome	18
918	c	MTR063	Maternal Uniparental Disomy of Chromosome 2	18
919		DST036	Distal Trisomy 15q	18
920		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	18
921	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	18
922		6Q1001	6q16 Deletion Syndrome	18
923	c	OVR115	Ovarian Dysgenesis 5	18
924		RPD005	Rapidly Involuting Congenital Hemangioma	18
925	c	SCK032	Seckel Syndrome 6	18
926	c	HYD042	Hydrocephalus, Autosomal Dominant	18
927		PLY088	Polyvalvular Heart Disease Syndrome	18
928		TRC110	Tracheobronchial Stenosis, Congenital	18
929		7P2001	7p22.1 Microduplication Syndrome	18
930		CHR614	Chromosome 16p13.2 Deletion Syndrome	18
931		8P1001	8p11.2 Deletion Syndrome	17
932		SBR012	Subaortic Stenosis, Membranous	17
933		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	17
934		FRY007	Fryns Macrocephaly	17
935	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	17
936		DST045	Distal Trisomy 6p	17
937		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	17
938		TRN017	Transient Neonatal Neutropenia	17
939		ECT069	Ectodermal Dysplasia 8, Hair/tooth/nail Type	17
940		CHR567	Chromosome 5q12 Deletion Syndrome	17
941	c	STS009	Sotos Syndrome 3	17
942	c	ACQ050	Acquired Schizencephaly	17
943	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	17
944		EXT058	Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly	17
945	c	TRN062	Transient Neonatal Myasthenia Gravis	17
946	c	ATR065	Atrial Septal Defect 8	17
947		CRN269	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	17
948		CNG489	Congenital Herpes Simplex Virus Infection	17
949		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	17
950		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	17
951		SPS196	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	17
952		DBL010	Double-Orifice Mitral Valve	17
953		GBR007	Gabriele-De Vries Syndrome	17
954	c	ATR056	Atrial Septal Defect 9	17
955		14Q001	14q12 Microdeletion Syndrome	17
956	c	OVR102	Ovarian Dysgenesis 3	17
957	c	EHL090	Ehlers-Danlos Syndrome Type 7b	17
958	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	17
959	c	SPN421	Spinocerebellar Ataxia 47	17
960		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	17
961		16P003	16p13.11 Microdeletion Syndrome	17
962		RDL028	Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema	17
963		THM019	Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay	17
964		MMM002	Mammary-Digital-Nail Syndrome	17
965		DYS135	Dysphagia Lusoria	17
966		MNS013	Monosomy 13q34	17
967		DST055	Distal 22q11.2 Microduplication Syndrome	17
968	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	17
969		ESS005	Essential Iris Atrophy	17
970	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	17
971	c	LKD027	Leukodystrophy, Hypomyelinating, 14	17
972		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	17
973		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	17
974		ECT085	Ectopia Cordis	17
975		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	17
976		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	17
977		DST061	Distal Xq28 Microduplication Syndrome	17
978		TYS007	Tyshchenko Syndrome	17
979	c	LKD028	Leukodystrophy, Hypomyelinating, 15	17
980	c	LKD030	Leukodystrophy, Hypomyelinating, 17	17
981		DST037	Distal Monosomy 9p	17
982		KMM002	Kommerell Diverticulum	17
983		XLN198	X-Linked Diffuse Leiomyomatosis-Alport Syndrome	17
984	c	SPN336	Spinocerebellar Ataxia Type 16	17
985	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	16
986	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	16
987		THM021	Thumb Deformity and Alopecia	16
988		CRY030	Cryptophthalmos, Unilateral or Bilateral, Isolated	16
989	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	16
990		CLF034	Cleft Hard Palate	16
991		DPH023	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull	16
992	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	16
993		ILL003	Illum Syndrome	16
994		XP2002	Xp22.13p22.2 Duplication Syndrome	16
995		BRC096	Brachydactyly-Distal Symphalangism Syndrome	16
996	c	OMP009	Omphalocele, Autosomal	16
997	c	ART054	Arthrogryposis, Distal, Type 2e	16
998	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	16
999	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	16
1000		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	16
1001		ATR053	Atresia of Urethra	16
1002		20Q001	20q13.33 Microdeletion Syndrome	16
1003	c	STC007	Stickler Syndrome, Type 3	16
1004		DRM038	Dermotrichic Syndrome	16
1005		CNG330	Congenital Megacalycosis	16
1006		ODN021	Odontotrichoungual-Digital-Palmar Syndrome	16
1007		ISL120	Isolated Cerebellar Agenesis	16
1008		DST035	Distal Trisomy 18q	16
1009	c	PTR011	Paternal Uniparental Disomy of Chromosome 1	16
1010		RDL031	Radial Aplasia, X-Linked	16
1011	P	HRD043	Hereditary Congenital Facial Paresis	16
1012		ESP040	Esophageal Duplication Cyst	16
1013		1P2001	1p21.3 Microdeletion Syndrome	16
1014	c	GLP007	Geleophysic Dysplasia 3	16
1015	P	ZYG003	Zygodactyly 1	16
1016		DDL001	Didelphys Uterus	16
1017	c	GLC089	Glaucoma 3, Primary Congenital, E	16
1018		HYD051	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis	16
1019		CHN047	Chondroectodermal Dysplasia with Night Blindness	16
1020		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	16
1021		PRR030	Pierre Robin Sequence with Facial and Digital Anomalies	16
1022		AML053	Amelia, Autosomal Recessive	16
1023	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	16
1024		NND003	Non-Distal Trisomy 10q	16
1025		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	16
1026		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	15
1027	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	15
1028		PHK006	Phakomatosis Pigmentokeratotica	15
1029	c	MTR067	Maternal Uniparental Disomy of Chromosome 16	15
1030		DSP003	Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	15
1031		CNG491	Congenital Portosystemic Shunt	15
1032		ART091	Aorto-Ventricular Tunnel	15
1033		CRB144	Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	15
1034		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	15
1035		6P2001	6p22 Microdeletion Syndrome	15
1036	c	LKD029	Leukodystrophy, Hypomyelinating, 16	15
1037		HYP727	Hypoglossia with Situs Inversus	15
1038		RGH010	Right Ventricular Hypoplasia, Isolated	15
1039	c	PRT113	Parietal Foramina 3	15
1040		CNG243	Congenital Subglottic Stenosis	15
1041	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	15
1042		HRS038	Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features	15
1043		PLM116	Pulmonary Artery Hypoplasia	15
1044	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	15
1045		10Q002	10q22.3q23.3 Microduplication Syndrome	15
1046		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	15
1047	P	MTR062	Maternal Uniparental Disomy of Chromosome 4	15
1048		HYP638	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	15
1049		CNS012	Cono-Spondylar Dysplasia	15
1050	c	FCL050	Facial Paresis, Hereditary Congenital, 2	15
1051	c	MTR057	Maternal Uniparental Disomy of Chromosome X	15
1052	P	LRY049	Laryngotracheoesophageal Cleft Type 4	15
1053		WHB001	Wahab Syndrome	15
1054		DST079	Distal Trisomy 5q	15
1055		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	15
1056		INF021	Infant Gynecomastia	15
1057		DST038	Distal Monosomy 7q36	15
1058		CLF033	Cleft Mitral Valve	15
1059		CRB162	Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula	15
1060		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	15
1061	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	15
1062		ATX036	Ataxia-Photosensitivity-Short Stature Syndrome	15
1063		PRS111	Persistent Fifth Aortic Arch	15
1064		EXT062	Extracranial Carotid Artery Aneurysm	15
1065	c	CNT108	Central Polydactyly	15
1066		49X004	49,xyyyy Syndrome	15
1067		CYS047	Cystic Fibrosis, Modifier of, 1	15
1068		RTF001	Retiform Hemangioendothelioma	15
1069		XSM001	X Small Rings	15
1070		HLL014	Hallux Varus and Preaxial Polysyndactyly	15
1071		DST082	Distal Trisomy 10q	15
1072		TRN046	Transverse Vaginal Septum	15
1073		FMR013	Femoral Agenesis/hypoplasia	15
1074		20Q003	20q11.2 Microdeletion Syndrome	15
1075		CMP077	Composite Hemangioendothelioma	15
1076	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	15
1077	c	SPN111	Spinocerebellar Ataxia Autosomal Recessive 5	15
1078		HYP497	Hyperphalangy	15
1079		CRT080	Cortical Blindness, Retardation, and Postaxial Polydactyly	15
1080		NND005	Non-Distal Trisomy 13q	15
1081	c	KLF005	Kleefstra Syndrome 2	15
1082	c	TYP003	Type I Ehlers-Danlos Syndrome	15
1083	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	15
1084	c	PRD028	Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15	15
1085		DLT013	Deletion 5q35	15
1086		KLL013	Kallmann Syndrome-Heart Disease Syndrome	14
1087		MLC004	Mulchandani-Bhoj-Conlin Syndrome	14
1088	c	MTR061	Maternal Uniparental Disomy of Chromosome 6	14
1089		LRS009	Larsen-Like Syndrome, Lethal Type	14
1090		UNL006	Unilateral Focal Polymicrogyria	14
1091		NSL017	Nasolacrimal Duct Cyst	14
1092		CRV066	Cervical Aortic Arch	14
1093		ACC011	Accessory Mitral Valve Tissue	14
1094		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	14
1095		HMN034	Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe	14
1096		ACR109	Acropectororenal Dysplasia	14
1097		CNG284	Congenital Pseudoarthrosis of the Tibia	14
1098		MCR186	Microtriplication 11q24.1	14
1099	c	SPN121	Spondylocostal Dysostosis 1	14
1100		SBM006	Submucosal Cleft Palate	14
1101		ATS182	Autosomal Dominant Trichoodontoonychodysplasia-Syndactyly	14
1102	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	14
1103	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	14
1104		LGB002	Leg, Absence Deformity of, with Congenital Cataract	14
1105		CRN192	Craniorhiny	14
1106		CMP079	Complete Septate Uterus	14
1107	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	14
1108		UNL005	Unilateral Polymicrogyria	14
1109		TRP023	Triphalangeal Thumbs and Dislocation of Patella	14
1110		DST071	Distal Monosomy 19p13.3	14
1111	P	CNG326	Congenital Primary Megaureter	14
1112	c	SYN040	Synpolydactyly 3	14
1113		SYM015	Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers	14
1114		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	14
1115	c	EFM001	Efemp2-Related Cutis Laxa	14
1116		CNG235	Congenital Microgastria	14
1117	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	14
1118		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	14
1119		XLN133	X-Linked Intellectual Disability, Shashi Type	14
1120		ATS292	Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	14
1121		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	14
1122		HNT017	Hunter-Mcalpine Craniosynostosis Syndrome	14
1123		MDL016	Midline Cervical Cleft	14
1124		ANR045	Aneurysm of Interventricular Septum	14
1125		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	14
1126		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1127		XQ1001	Xq12-Q13.3 Duplication Syndrome	14
1128		APR008	Aprosencephaly and Cerebellar Dysgenesis	14
1129	c	LTB003	Ltbp4-Related Cutis Laxa	14
1130		CMP070	Complete Atrioventricular Canal-Left Heart Obstruction Syndrome	14
1131		CNG252	Congenital Non-Communicating Hydrocephalus	14
1132	c	ACQ029	Acquired Porencephaly	13
1133		DRL001	Dural Sinus Malformation	13
1134	c	TRS033	Trisomy 18-Like Syndrome	13
1135		MSC086	Mesocardia	13
1136		LNG081	Longitudinal Vaginal Septum	13
1137		RCT033	Rectal Duplication	13
1138		46X040	46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome	13
1139	c	HTR012	Heterotaxy, Visceral, 3, Autosomal	13
1140		FNG014	Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature	13
1141		NSL020	Nasal Glial Heterotopia	13
1142		CLF040	Cleft Lip-Retinopathy Syndrome	13
1143	P	BLT016	Bilateral Polymicrogyria	13
1144		DST052	Distal 7q11.23 Microduplication Syndrome	13
1145		MSC078	Mosaic Trisomy 17	13
1146		TRN045	True Unicornuate Uterus	13
1147		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	13
1148		ANN015	Anonychia with Flexural Pigmentation	13
1149		PTN009	Patent Urachus	13
1150		ARC020	Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	13
1151		16P005	16p11.2p12.2 Microduplication Syndrome	13
1152		FRS011	First Branchial Cleft Anomaly	13
1153	c	GLC052	Glaucoma 3, Primary Congenital, C	13
1154		XLN145	X-Linked Intellectual Disability, Pai Type	13
1155		ANR041	Aniridia-Intellectual Disability Syndrome	13
1156		PRT131	Partial Trisomy Distal 4q	13
1157		LWR017	Lower Limb Malformation-Hypospadias Syndrome	13
1158		MND008	Mandibular Arteriovenous Malformation	13
1159	P	XKP001	Xk Aprosencephaly	13
1160	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	13
1161	c	SCL053	Sclerocornea, Autosomal Dominant	13
1162		ACH028	Acheiria	13
1163		XLN156	X-Linked Intellectual Disability, Golabi-Ito-Hall Type	13
1164		MCR357	Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	13
1165		MSC080	Mosaic Trisomy 12	13
1166		5Q3001	5q35 Microduplication Syndrome	13
1167		CRN204	Craniofacial Conodysplasia	13
1168	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	13
1169		INT294	Intellectual Disability-Short Stature-Hypertelorism Syndrome	13
1170		ANR037	Aneurysm or Dilatation of Ascending Aorta	13
1171	c	MTR060	Maternal Uniparental Disomy of Chromosome 9	13
1172		CMP084	Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome	13
1173		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	13
1174		PRT087	Parietal Encephalocele	13
1175		CNG335	Congenital Ectropion Uveae	13
1176		HND012	Handigodu Joint Disease	13
1177		CHR498	Chromosome 16p11.2 Duplication Syndrome	13
1178		ISL069	Isolated Micropenis	13
1179		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	13
1180		ERL036	Early-Onset Posterior Subcapsular Cataract	13
1181	c	PST093	Posterior Hypospadias	12
1182		CRN194	Cranial Meningocele	12
1183		NND004	Non-Distal Monosomy 10q	12
1184		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	12
1185		SVR082	Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	12
1186		XLN142	X-Linked Intellectual Disability, Stevenson Type	12
1187		RNN006	Reunion Island Larsen Syndrome	12
1188	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	12
1189	c	PRD023	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2	12
1190		PRC041	Pericardial and Diaphragmatic Defect	12
1191	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	12
1192	c	CNG253	Congenital Communicating Hydrocephalus	12
1193		46X015	46,xy Ovotesticular Disorder of Sex Development	12
1194		SYM014	Symbrachydactyly of Hands and Feet	12
1195		MTR050	Maternal Hyperthermia Induced Birth Defects	12
1196	c	CSK002	Cask-Related Intellectual Disability	12
1197		NSL021	Nasal Encephalocele	12
1198	c	PTR019	Paternal Uniparental Disomy of Chromosome 5	12
1199		HGH026	High Anorectal Malformation	12
1200		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	12
1201	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	12
1202		5Q3002	5q31.3 Microdeletion Syndrome	12
1203	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	12
1204		ART097	Aorto-Left Ventricular Tunnel	12
1205		SHN001	Shone Complex	12
1206		13Q001	13q12.3 Microdeletion Syndrome	12
1207	c	MCR361	Microcephaly 21, Primary, Autosomal Recessive	12
1208		FRT004	Fourth Branchial Cleft Anomaly	12
1209		SVR086	Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	12
1210		PRM238	Primary Intralymphatic Angioendothelioma	12
1211	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	12
1212		VRR008	Verrucous Hemangioma	12
1213		CNG506	Congenital Amyoplasia	12
1214	c	PTR015	Paternal Uniparental Disomy of Chromosome X	12
1215		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	12
1216	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	12
1217		ISL054	Isolated Congenitally Uncorrected Transposition of the Great Arteries	11
1218		CNT077	Central Bilateral Macrogyria	11
1219		9Q3002	9q33.3q34.11 Microdeletion Syndrome	11
1220	P	ANT062	Anterior Urethral Valve	11
1221	c	SYN050	Syndactyly Type 6	11
1222	c	PRD025	Prader-Willi Syndrome Due to Imprinting Mutation	11
1223	c	CNG346	Congenital Aortic Valve Insufficiency	11
1224		ART098	Aorto-Right Ventricular Tunnel	11
1225		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	11
1226	c	MGL035	Megalencephaly, Autosomal Dominant	11
1227		DNT049	Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	11
1228		URC013	Urachal Diverticulum	11
1229		CNG519	Congenital Gerbode Defect	11
1230	c	HYP545	Hypospadias 3, Autosomal	11
1231		ART095	Aortic Valve Atresia	11
1232		ABS016	Absence of the Pulmonary Artery	11
1233		IDP062	Idiopathic Syringomyelia	11
1234		CNG357	Congenital Symblepharon	11
1235		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	11
1236	c	PRM168	Primary Syringomyelia	11
1237		MYP110	Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome	11
1238	c	ACR046	Acropectorovertebral Dysplasia F Form	11
1239	c	ANG059	Angelman Syndrome Due to Imprinting Defect in 15q11-Q13	11
1240	c	SYN073	Syngap1-Related Intellectual Disability	11
1241	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	11
1242	c	ATS065	Autosomal Dominant Coarctation of Aorta	11
1243		CNG244	Congenital Laryngeal Cyst	11
1244		ART130	Arthrogryposis with Hyperkeratosis	10
1245		LWN002	Low Anorectal Malformation	10
1246		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	10
1247		XLN207	X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome	10
1248		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	10
1249	c	CNG343	Congenital Coronary Artery Aneurysm	10
1250	c	CNG455	Congenital Aortopulmonary Window	10
1251		PRS112	Persistent Eustachian Valve	10
1252		ISL118	Isolated Tracheoesophageal Fistula	10
1253	c	MCR363	Microcephaly 23, Primary, Autosomal Recessive	10
1254	c	ISC013	Isochromosomy Yq	10
1255		URC012	Urachal Sinus	10
1256		FBL017	Fibular Dimelia-Diplopodia Syndrome	10
1257	c	CNG257	Congenital Pulmonary Sequestration	10
1258		GLS016	Glossopalatine Ankylosis	10
1259	c	SPN122	Spondylocostal Dysostosis 2	10
1260	c	ANG053	Angelman Syndrome Due to Maternal 15q11q13 Deletion	10
1261		HMR042	Humero-Ulnar Synostosis	10
1262		CNG318	Congenital Genu Recurvatum	10
1263		RTR022	Retrocerebellar Cyst	10
1264		DST089	Distal Trisomy 3p	10
1265		LWR014	Lower Limb Hypertrophy	10
1266	c	USH011	Usher Syndrome, Type 2b	10
1267	c	KRN003	Kernicterus Due to Isoimmunization	10
1268		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
1269		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
1270	c	SPN123	Spondylocostal Dysostosis 3	10
1271	c	SPN124	Spondylocostal Dysostosis 4	10
1272	c	ZYG007	Zygodactyly Type 3	10
1273		LBR027	Laubry-Pezzi Syndrome	9
1274		ECT107	Ectasia of the Left Atrial Appendage	9
1275		ULN014	Ulnar Hemimelia	9
1276		CNG277	Congenital Pseudoarthrosis of the Fibula	9
1277		MSC090	Mosaic Trisomy 3	9
1278		2P2002	2p21 Microdeletion Syndrome Without Cystinuria	9
1279		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	9
1280		TRC108	Trichodysplasia-Amelogenesis Imperfecta Syndrome	9
1281		SNS024	Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	9
1282	c	HVP001	Hivep2-Related Intellectual Disability	9
1283	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	9
1284		JXT004	Juxtaposition of the Atrial Appendages	9
1285		CRN261	Craniosynostosis-Cataract Syndrome	9
1286		CRN207	Coronary Sinus Stenosis	9
1287		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
1288		ISC011	Ischio-Vertebral Syndrome	9
1289		CNG279	Congenital Pseudoarthrosis of the Ulna	9
1290		CNG282	Congenital Knee Dislocation	9
1291	c	MWT002	Mowat-Wilson Syndrome Due to Monosomy 2q22	9
1292		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	9
1293	c	INF166	Infantile Epileptic Encephalopathy 55	9
1294	c	INF169	Infantile Epileptic Encephalopathy 59	9
1295	c	ZYG006	Zygodactyly Type 2	9
1296	c	GRD008	Grid2-Related Spinocerebellar Ataxia	9
1297		PLR014	Pleuro-Pericardial Cyst	9
1298		DBL018	Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis	9
1299		INT254	Intermediate Anorectal Malformation	9
1300		CRV060	Cervical Dermoid Cyst	9
1301		PSD091	Pseudounicornuate Uterus	9
1302	c	DXT005	Dextro-Looped Transposition of the Great Arteries 3	9
1303		CRN208	Coronary Sinus Atresia	8
1304		MXL013	Maxillary Arteriovenous Malformation	8
1305	c	ANG052	Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15	8
1306	c	FBL003	Fbln5-Related Cutis Laxa	8
1307	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	8
1308		PRN048	Prenatal Benign Hypophosphatasia	8
1309		AML037	Amelia of Upper Limb	8
1310		CNG283	Congenital Pseudoarthrosis of the Femur	8
1311		CNG278	Congenital Pseudoarthrosis of the Radius	8
1312		TBF001	Tibio-Fibular Synostosis	8
1313		MSC084	Mosaic Genome-Wide Paternal Uniparental Disomy	8
1314		MCR184	Macrodactyly of Fingers	8
1315		MCR185	Macrodactyly of Toes	8
1316	c	PPP001	Ppp2r5d-Related Intellectual Disability	8
1317	c	INF165	Infantile Epileptic Encephalopathy 56	8
1318	c	INF167	Infantile Epileptic Encephalopathy 57	8
1319	c	INF168	Infantile Epileptic Encephalopathy 58	8
1320		MGC005	Megacystis-Megaureter Syndrome	8
1321		ACC010	Accessory Tricuspid Valve Tissue	8
1322		PRC042	Parachute Tricuspid Valve	8
1323		ISL050	Isolated Dandy-Walker Malformation with Hydrocephalus	8
1324		ISL049	Isolated Dandy-Walker Malformation Without Hydrocephalus	8
1325		APD003	Apodia	8
1326		3Q2004	3q26 Microduplication Syndrome	8
1327		OKH001	Okihiro Syndrome Due to a Point Mutation	8
1328		PHK009	Phakomatosis Cesiomarmorata	8
1329		4P1001	4p16.3 Microduplication Syndrome	8
1330		MSC088	Mosaic Trisomy 5	8
1331	c	PST077	Posterior Meningocele	8
1332		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	8
1333	c	ZYG005	Zygodactyly Type 4	8
1334		BPR001	Bipartite Talus	8
1335		DYR002	Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion	8
1336	c	GLC032	Glaucoma, Hereditary	8
1337	c	BCK015	Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11	7
1338	P	JVN036	Juvenile Sialidosis Type 2	7
1339	c	CNG348	Congenital Sialidosis Type 2	7
1340	c	ATS360	Autosomal Recessive Intellectual Disability 58	7
1341	c	INT307	Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	7
1342	c	LRY051	Laryngotracheoesophageal Cleft Type 1	7
1343	c	LRY050	Laryngotracheoesophageal Cleft Type 2	7
1344		CMM018	Common Mesentery	7
1345		MCR285	Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	7
1346		RDL019	Radio-Ulnar Synostosis, Unilateral	7
1347		DST085	Distal Trisomy 2q	7
1348		DST057	Distal Trisomy 19q	7
1349		DST076	Distal Trisomy 13q	7
1350		3Q2006	3q27.3 Microdeletion Syndrome	7
1351		PRX083	Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	7
1352		TNN014	Tunnel Subaortic Stenosis	7
1353	c	SX2003	Six2-Related Frontonasal Dysplasia	7
1354	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	7
1355	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	7
1356	c	MWT004	Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation	7
1357		CNG272	Congenital Achiasma	7
1358		DNC006	Diencephalic-Mesencephalic Junction Dysplasia	7
1359		HMR031	Humeral Agenesis/hypoplasia	7
1360		HYP500	Hyperphalangy, Unilateral	7
1361	c	PRD042	Prader-Willi-Like Syndrome Due to a Point Mutation	7
1362		DST090	Distal Trisomy 2p	7
1363		ATS109	Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	7
1364	c	CNG476	Congenital Systemic Arteriovenous Fistula	7
1365		CRD171	Cordiform Uterus	7
1366	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	7
1367		CNG334	Congenital Esophageal Diverticulum	7
1368	c	LRY048	Laryngotracheoesophageal Cleft Type 0	7
1369		PRM187	Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	7
1370		PHK010	Phakomatosis Spilorosea	7
1371		MSC087	Mosaic Trisomy 4	7
1372		DST078	Distal Trisomy 6q	7
1373	c	MTR064	Maternal Uniparental Disomy of Chromosome 22	7
1374		DST081	Distal Trisomy 11q	7
1375	c	ACR048	Acrorenal Syndrome Recessive	7
1376	c	TRR002	Trio-Related Intellectual Disability	7
1377	c	WCR002	Wac-Related Intellectual Disability	7
1378	c	SN3001	Sin3a-Related Intellectual Disability Syndrome	6
1379		CNG359	Congenitally Uncorrected Transposition of the Great Arteries with Coarctation	6
1380		CNG259	Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation	6
1381		TRG018	Trigonocephaly-Broad Thumbs Syndrome	6
1382		BLR023	Biliary Atresia with Splenic Malformation Syndrome	6
1383		INT186	Intralobar Congenital Pulmonary Sequestration	6
1384		EXT047	Extralobar Congenital Pulmonary Sequestration	6
1385		CNG289	Congenital Absence/hypoplasia of Thumb	6
1386		CNG287	Congenital Absence of Both Forearm and Hand	6
1387		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	6
1388		HYP501	Hyperphalangy, Bilateral	6
1389		RDL020	Radio-Ulnar Synostosis, Bilateral	6
1390		LWR011	Lower Lip Fistula	6
1391		DST083	Distal Trisomy 9q	6
1392		DST073	Distal Monosomy 7p	6
1393		DST066	Distal Monosomy 20q	6
1394		DST069	Distal Monosomy 12q	6
1395		DST058	Distal Monosomy 12p	6
1396		UPP009	Upper Limb Hypertrophy	6
1397		CNG327	Congenital Epstein-Barr Virus Infection	6
1398		PRT111	Partial Septate Uterus	6
1399	P	ATS403	Autosomal Dominant Intellectual Disability 40	6
1400	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	6
1401		PLM178	Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome	6
1402		PLM157	Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome	6
1403		ECT057	Ectasia of the Right Atrial Appendage	6
1404		ISL034	Isolated Megalencephaly	6
1405		CNG290	Congenital Absence of Both Lower Leg and Foot	6
1406		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	6
1407		1P3003	1p35.2 Microdeletion Syndrome	6
1408	c	PRD024	Prader-Willi Syndrome Due to Translocation	6
1409		THR083	Third Branchial Cleft Anomaly	6
1410		20P002	20p13 Microdeletion Syndrome	6
1411		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
1412		ISL108	Isolated Splenogonadal Fusion	6
1413		DGT008	Digital Anomalies-Intellectual Disability-Short Stature Syndrome	6
1414		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	6
1415		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	6
1416		MDN007	Median Cleft Lip/mandibule	6
1417		14Q003	14q11.2 Microduplication Syndrome	6
1418		3Q2005	3q26q27 Microdeletion Syndrome	6
1419		7Q3001	7q31 Microdeletion Syndrome	6
1420		DST054	Distal 17p13.3 Microdeletion Syndrome	6
1421		21Q001	21q22.11q22.12 Microdeletion Syndrome	6
1422	c	ANG058	Angelman Syndrome Due to a Point Mutation	6
1423		RTN189	Retinal Capillary Malformation	6
1424	c	BCK011	Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion	6
1425		ISL029	Isolated Anorectal Malformation	6
1426	c	ATS348	Autosomal Dominant Intellectual Disability 30	6
1427		BCK010	Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion	6
1428		DBL016	Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy	6
1429		TRC084	Tricuspid Valve Agenesis	6
1430		CLS029	Celosomia	6
1431		BLK004	Blake Pouch Cyst	6
1432		ISL028	Isolated Cerebellar Vermis Hypoplasia	6
1433	c	ISL045	Isolated Focal Cortical Dysplasia Type I	6
1434	c	ISL040	Isolated Focal Cortical Dysplasia Type Ia	6
1435	P	ISL038	Isolated Focal Cortical Dysplasia Type Ib	6
1436	c	ISL039	Isolated Focal Cortical Dysplasia Type Ic	6
1437		CRP029	Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	6
1438		PRT098	Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome	6
1439		PTR027	Peters Anomaly-Cataract Syndrome	6
1440		RGR003	Regressive Spondylometaphyseal Dysplasia	6
1441		SVR046	Severe Lateral Tibial Bowing with Short Stature	6
1442		HMR036	Humero-Ulnar Synostosis, Unilateral	6
1443		HMR037	Humero-Ulnar Synostosis, Bilateral	6
1444		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	6
1445		11P002	11p15.4 Microduplication Syndrome	6
1446		EXT043	External Auditory Canal Aplasia/hypoplasia	6
1447		CHN052	Choanal Atresia, Bilateral	6
1448		LRY034	Laryngotracheal Angioma	6
1449		CCH007	Cochleovestibular Dysplasia	6
1450		DST088	Distal Trisomy 1p36	6
1451		2Q2002	2q23.1 Microduplication Syndrome	6
1452		DST087	Distal Trisomy 7p	6
1453		DST084	Distal Trisomy 8q	6
1454		DST075	Distal Trisomy 16q	6
1455		DST074	Distal Trisomy 20q	6
1456		DST077	Distal Trisomy 22q	6
1457		DST070	Distal Monosomy 4q	6
1458		9P1001	9p13 Microdeletion Syndrome	6
1459		9Q3001	9q31.1q31.3 Microdeletion Syndrome	6
1460		16Q002	16q24.1 Microdeletion Syndrome	6
1461		14Q005	14q24.1q24.3 Microdeletion Syndrome	6
1462		12Q001	12q15q21.1 Microdeletion Syndrome	6
1463	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	6
1464		MCR295	Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	6
1465	c	CRB128	Cerebrofacial Arteriovenous Metameric Syndrome Type 1	6
1466	P	CRB127	Cerebrofacial Arteriovenous Metameric Syndrome Type 3	6
1467		BCR005	Bicervical Bicornuate Uterus and Blind Hemivagina	6
1468	P	HRT016	Heart Defect, Tongue Hamartoma and Polysyndactyly	6
1469	P	RBN007	Rubinstein Taybi Like Syndrome	5
1470		ISL079	Isolated Encephalocele	5
1471		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	5
1472		ART099	Aortic Valve Dysplasia	5
1473		CNG351	Congenital Partial Pulmonary Venous Return Anomaly	5
1474		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	5
1475	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	5
1476		16P011	16p12.1p12.3 Triplication Syndrome	5
1477		LWM001	Low Implantation of Placenta	5
1478	c	LSS021	Lissencephaly with Cerebellar Hypoplasia Type a	5
1479	c	LSS020	Lissencephaly with Cerebellar Hypoplasia Type B	5
1480	c	LSS023	Lissencephaly with Cerebellar Hypoplasia Type C	5
1481		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	5
1482		XYL001	Xylt1-Cdg	5
1483		INT285	Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome	5
1484		MSC079	Mosaic Trisomy 1	5
1485		2Q3006	2q31.1 Microduplication Syndrome	5
1486		NND009	Non-Distal Trisomy 9q	5
1487	c	PTR020	Paternal Uniparental Disomy of Chromosome 20	5
1488		NND008	Non-Distal Monosomy 7p	5
1489		NND006	Non-Distal Monosomy 20q	5
1490		DST067	Distal Monosomy 14q	5
1491		NND007	Non-Distal Monosomy 12q	5
1492		ATY020	Atypical Norrie Disease Due to Monosomy Xp11.3	5
1493		MCR188	Macrodactyly of Fingers, Unilateral	5
1494		MCR190	Macrodactyly of Toes, Unilateral	5
1495	c	HYD017	Hydrocephalus Autosomal Recessive	5
1496		UNL009	Unilateral Congenital Megacalycosis	5
1497		CNG331	Congenital Bilateral Megacalycosis	5
1498		BCK016	Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication	5
1499		CNG354	Congenital Complete Agenesis of Pericardium	5
1500		CNG353	Congenital Partial Agenesis of Pericardium	5
1501		STN015	Stenosis or Atresia of the Coronary Ostium	5
1502		UNV004	Univentricular Heart with Single Atrio-Ventricular Valve	5
1503		DBL013	Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect	5
1504		PRM160	Premature Closure of the Arterial Duct	5
1505	P	ISL048	Isolated Cerebellar Vermis Agenesis	5
1506	c	ISL052	Isolated Total Cerebellar Vermis Agenesis	5
1507		ISL051	Isolated Partial Cerebellar Vermis Agenesis	5
1508		ISL047	Isolated Unilateral Hemispheric Cerebellar Hypoplasia	5
1509		ISL046	Isolated Bilateral Hemispheric Cerebellar Hypoplasia	5
1510		SBC038	Sub-Cortical Nodular Heterotopia	5
1511		UNL012	Unilateral Hemispheric Polymicrogyria	5
1512	c	LSS022	Lissencephaly with Cerebellar Hypoplasia Type D	5
1513	c	LSS019	Lissencephaly with Cerebellar Hypoplasia Type E	5
1514	P	LSS018	Lissencephaly with Cerebellar Hypoplasia Type F	5
1515		ISL056	Isolated Lissencephaly Type 1 Without Known Genetic Defects	5
1516		CMM017	Communicating Congenital Bronchopulmonary-Foregut Malformation	5
1517		CMP057	Complete Cryptophthalmia	5
1518		PRT091	Partial Cryptophthalmia	5
1519		ERL027	Early-Onset Non-Syndromic Cataract	5
1520		ERL042	Early-Onset Partial Cataract	5
1521		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	5
1522		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	5
1523		DYS128	Dysplasia of Head of Femur, Meyer Type	5
1524		MDL018	Madelung Deformity, Unilateral	5
1525		MDL017	Madelung Deformity, Bilateral	5
1526		CHR512	Cheirospondyloenchondromatosis	5
1527		AML036	Amelia of Lower Limb	5
1528		CNG391	Congenital Pseudoarthrosis of the Limbs	5
1529		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	5
1530		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	5
1531		FCL034	Facial Dermoid Cyst	5
1532		CMM016	Commissural Lip Fistula	5
1533		CHN051	Choanal Atresia, Unilateral	5
1534		20Q002	20q11.2 Microduplication Syndrome	5
1535		CNG280	Congenital Shoulder Dislocation	5
1536		ISL117	Isolated Congenital Radial Head Dislocation	5
1537		AGN009	Agenesis and Aplasia of Uterine Body	5
1538		UTR055	Uterine Cervical Aplasia and Agenesis	5
1539		CNG517	Congenital Agenesis of the Scrotum	5
1540	c	CRN093	Craniosynostosis Autosomal Dominant	5
1541	c	ATS022	Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract	5
1542		INT219	Intramural Coronary Arterial Course	4
1543		HYP506	Hypoplasia of the Mitral Valve Annulus	4
1544		OPN003	Open Iniencephaly	4
1545		CLS021	Closed Iniencephaly	4
1546		ISL106	Isolated Congenital Microcephaly	4
1547		ISL044	Isolated Arhinencephaly	4
1548	c	GLC029	Glaucoma Type 1c	4
1549	c	GLC033	Glaucoma, Hereditary Adult Type 1a	4
1550	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	4
1551	c	GLC035	Glaucoma, Primary Infantile Type 3a	4
1552	c	PRM147	Primary Megaureter, Adult-Onset Form	4
1553		ENC035	Encircling Double Aortic Arch	4
1554		DGS007	Digestive Duplication	4
1555		SPN339	Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	4
1556		MCR280	Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	4
1557	P	TSS001	Tessier Number 5 Facial Cleft	4
1558		ISL107	Isolated Congenital Syngnathia	4
1559	c	MTR065	Maternal Uniparental Disomy of Chromosome 21	4
1560	c	MTR079	Maternal Uniparental Disomy of Chromosome 13	4
1561	c	PTR022	Paternal Uniparental Disomy of Chromosome 7	4
1562	c	PTR021	Paternal Uniparental Disomy of Chromosome 21	4
1563	c	PTR023	Paternal Uniparental Disomy of Chromosome 13	4
1564		2P1003	2p13.2 Microdeletion Syndrome	4
1565		4Q2002	4q25 Proximal Deletion Syndrome	4
1566		MYB004	Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	4
1567		CNG315	Congenital Vertical Talus, Unilateral	4
1568		CNG316	Congenital Vertical Talus, Bilateral	4
1569		MCR187	Macrodactyly of Fingers, Bilateral	4
1570		MCR189	Macrodactyly of Toes, Bilateral	4
1571	c	ACS002	Acsl4-Related Intellectual Disability	4
1572	c	ARX002	Arx-Related Intellectual Disability	4
1573	c	DDX001	Ddx3x-Related Intellectual Disability	4
1574	c	FML317	Familial Monosomy 7 Syndrome	4
1575		CNG270	Congenital Primary Megaureter, Obstructed Form	4
1576		CNG269	Congenital Primary Megaureter, Refluxing Form	4
1577		CNG268	Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form	4
1578		CRN206	Coronary Artery Intramyocardial Course	4
1579		ART114	Aortopulmonary Coronary Arterial Course	4
1580		ABN010	Abnormal Number of Coronary Ostia	4
1581		MLP005	Malposition of the Coronary Ostium	4
1582		PLM119	Pulmonary Artery Coming from Patent Ductus Arteriosus	4
1583		DSC011	Discrete Fibromuscular Subaortic Stenosis	4
1584		CNG361	Congenital Supravalvular Mitral Ring	4
1585		CNG360	Congenital Unguarded Mitral Orifice	4
1586		MTR068	Mitral Valve Agenesis	4
1587		ANM025	Anomaly of the Mitral Subvalvular Apparatus	4
1588		STR076	Straddling and/or Overriding Mitral Valve	4
1589		STR075	Straddling or Overriding Tricuspid Valve	4
1590		ANM024	Anomaly of the Tricuspid Valve Chordae	4
1591		CNG349	Congenital Patent Ductus Arteriosus Aneurysm	4
1592		CRD212	Cardiac Anomalies-Heterotaxy Syndrome	4
1593		XLN157	X-Linked Intellectual Disability, Porteous Type	4
1594		LTH040	Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome	4
1595		LPT012	Leptomyelolipoma	4
1596		ISL035	Isolated Amyelia	4
1597		MCR358	Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	4
1598		OVR117	Overgrowth Syndrome with 2q37 Translocation	4
1599		CNG493	Congenital Generalized Hypercontractile Muscle Stiffness Syndrome	4
1600		CRV059	Cervicofacial Fibrochondroma	4
1601		NSL016	Nasal Dorsum Fistula/cyst	4
1602		PNN004	Pinnae Fistula or Cyst	4
1603		XLN226	X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome	4
1604		SPR109	Supratip Dysplasia	4
1605		XLN147	X-Linked Intellectual Disability, Stoll Type	4
1606		INT227	Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	4
1607		PRT109	Partially Involuting Congenital Hemangioma	4
1608		FRN038	Frontonasal Arteriovenous Malformation	4
1609		NNT001	Neonatal Infective Mastitis	4
1610		TBL020	Tubular Duplication of the Esophagus	3
1611		SPG003	Spigelian Hernia-Cryptorchidism Syndrome	3
1612		SGM005	Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia	3
1613		MDN006	Median Cleft of the Upper Lip and Maxilla	3
1614	c	TSS003	Tessier Number 6 Facial Cleft	3
1615		CNT081	Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome	3
1616		CNG322	Congenital Elbow Dislocation, Unilateral	3
1617		CNG321	Congenital Elbow Dislocation, Bilateral	3
1618		CNG317	Congenital Genu Flexum	3
1619		GLP005	Glioependymal/ependymal Cyst	3
1620		INT305	Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	3
1621		PTS016	Ptosis-Syndactyly-Learning Difficulties Syndrome	3
1622		INT248	Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	3
1623		EPB005	Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome	3
1624		WRF003	Warfarin Syndrome	31
1625		EMB004	Embryonal Carcinoma	56
1626		PRL032	Perlman Syndrome	45
1627	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	36
1628	c	CNG133	Congenital Varicella Syndrome	29
1629	P	VRC007	Varicella, Severe Recurrent	8
1630		TWN001	Twin-to-Twin Transfusion Syndrome	50
1631		FTL009	Fetal Akinesia Deformation Sequence	53
1632		DTH005	Diethylstilbestrol Syndrome	28
1633		IMM039	Immune Hydrops Fetalis	28
1634		FTL011	Fetal Aminopterin Syndrome	10
1635		FTL018	Fetal Indomethacin Syndrome	16
1636	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	13
1637		PHN003	Phenylketonuria	73
1638	P	ICH004	Ichthyosis	54
1639	c	ICH047	Ichthyosis, Congenital, Autosomal Recessive 1	53
1640	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	45
1641	c	ICH049	Ichthyosis, Congenital, Autosomal Recessive 2	42
1642	c	ICH051	Ichthyosis, Congenital, Autosomal Recessive 11	35
1643	c	ATS013	Autosomal Recessive Congenital Ichthyosis	34
1644		TST033	Testicular Regression Syndrome	31
1645	c	ICH038	Ichthyosis, Congenital, Autosomal Recessive 3	29
1646	c	ICH040	Ichthyosis, Congenital, Autosomal Recessive 4a	28
1647	c	ICH042	Ichthyosis, Congenital, Autosomal Recessive 6	28
1648	c	ICH023	Ichthyosis, Acquired	27
1649		EMB015	Embryonal Tumor with Multilayered Rosettes	27
1650	c	ICH050	Ichthyosis, Congenital, Autosomal Recessive 5	24
1651	c	ICH045	Ichthyosis, Congenital, Autosomal Recessive 7	24
1652	c	ICH044	Ichthyosis, Congenital, Autosomal Recessive 8	23
1653	c	ICH048	Ichthyosis, Congenital, Autosomal Recessive 9	21
1654	c	ICH039	Ichthyosis, Congenital, Autosomal Recessive 10	20
1655	c	ICH072	Ichthyosis, Congenital, Autosomal Recessive 14	18
1656	c	ICH070	Ichthyosis, Congenital, Autosomal Recessive 13	16
1657	c	ICH071	Ichthyosis, Congenital, Autosomal Recessive 12	16
1658	P	END039	Endodermal Sinus Tumor	45
1659		TRT001	Teratocarcinoma	40
1660		GCH018	Gaucher Disease, Perinatal Lethal	31
1661	c	ADL047	Adult Endodermal Sinus Tumor	9
1662		MRS006	Morse-Rawnsley-Sargent Syndrome	5
1663	c	ART119	Arthrogryposis, Distal, Type 5	49
1664	c	ART120	Arthrogryposis, Distal, Type 3	48
1665	c	ART061	Arthrogryposis, Distal, Type 2a	45
1666	c	ART146	Arthrogryposis, Distal, Type 9	41
1667	c	ART147	Arthrogryposis, Distal, Type 7	34
1668	c	PRS122	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	33
1669	P	BTR001	Botryoid Rhabdomyosarcoma	32
1670	c	ART112	Arthrogryposis, Distal, Type 10	27
1671	c	ART128	Arthrogryposis, Distal, Type 6	23
1672		FTL024	Fetal Minoxidil Syndrome	15
1673	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	13
1674		PHN013	Phenobarbital Antenatal Exposure	8
1675	c	ADL031	Adult Botryoid Rhabdomyosarcoma	6
1676	P	RBL001	Rubella	62
1677		NRR002	Norrie Disease	61
1678	c	CNG124	Congenital Rubella	47
1679		EMB007	Embryonal Sarcoma	46
1680		ALV007	Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins	44
1681		BWN001	Bowen-Conradi Syndrome	43
1682	c	LTH042	Lethal Congenital Contracture Syndrome 10	24
1683		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	24
1684		FTL064	Fetal Methylmercury Syndrome	22
1685		HRS002	Hersh Podruch Weisskopk Syndrome	21
1686		MTR016	Maternal Hyperphenylalaninemia	18
1687		CCN012	Cocaine Antenatal Exposure	17
1688		WLL022	Well-Differentiated Fetal Adenocarcinoma of the Lung	14
1689	P	FTL014	Fetal Brain Disruption Sequence	11
1690		NNT022	Neonatal Ovarian Cyst	11
1691		CHL031	Childhood Vagina Botryoid Rhabdomyosarcoma	7
1692		SMM002	Semmekrot Haraldsson Weemaes Syndrome	3
1693		FTL017	Fetal Enterovirus Syndrome	3
1694	P	FNC027	Fanconi Anemia, Complementation Group a	78
1695	P	OST002	Osteoporosis	76
1696		MRF001	Marfan Syndrome	74
1697	c	ART101	Aortic Valve Disease 2	73
1698		FBR012	Fabry Disease	71
1699		CRZ001	Crouzon Syndrome	70
1700		WRN001	Werner Syndrome	69
1701	P	DMN001	Diamond-Blackfan Anemia	69
1702	P	TTR001	Tetralogy of Fallot	69
1703		DWN001	Down Syndrome	69
1704	P	NRF023	Neurofibromatosis, Type Ii	68
1705	P	TBR001	Tuberous Sclerosis	68
1706	P	TRN020	Turner Syndrome	68
1707		APR006	Apert Syndrome	68
1708		SCH036	Scheie Syndrome	68
1709	P	CWD001	Cowden Disease	67
1710	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
1711	P	MCL013	Mucolipidosis Iv	67
1712	P	PSD087	Pseudoxanthoma Elasticum	67
1713	P	PRT008	Proteus Syndrome	66
1714		CST001	Costello Syndrome	66
1715	c	NRF024	Neurofibromatosis, Type I	66
1716	P	HLP001	Holoprosencephaly	66
1717	c	TBR026	Tuberous Sclerosis 2	65
1718	P	INT068	Intestinal Disease	64
1719	P	CRN015	Cornelia De Lange Syndrome	64
1720	c	MCP050	Mucopolysaccharidosis, Type Ii	63
1721		WLL001	Williams-Beuren Syndrome	63
1722	c	MCL062	Mucolipidosis Ii Alpha/beta	63
1723		FBR011	Fibrodysplasia Ossificans Progressiva	63
1724	P	KBK002	Kabuki Syndrome 1	63
1725	c	MCP049	Mucopolysaccharidosis, Type Vii	63
1726	c	DPH024	Diaphragmatic Hernia, Congenital	63
1727	c	TBR025	Tuberous Sclerosis 1	62
1728	P	CNG411	Congenital Disorder of Glycosylation, Type in	62
1729		HTC003	Hutchinson-Gilford Progeria Syndrome	62
1730	c	MCP024	Mucopolysaccharidosis Type Vi	62
1731	P	CLD001	Cleidocranial Dysplasia	62
1732	P	BRD002	Bardet-Biedl Syndrome	62
1733	P	HYP055	Hypoplastic Left Heart Syndrome	62
1734		PTR032	Peters-Plus Syndrome	62
1735	P	OST001	Osteopetrosis	61
1736		PLC008	Placenta Disease	61
1737	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
1738	P	TRC072	Treacher Collins Syndrome 1	61
1739		MTC114	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	61
1740	P	PRD006	Prader-Willi Syndrome	61
1741		CNT061	Conotruncal Heart Malformations	61
1742		BRN056	Bronchopulmonary Dysplasia	60
1743		MCR013	Microphthalmia	60
1744		ELL001	Ellis-Van Creveld Syndrome	60
1745		PLM070	Pulmonic Stenosis	60
1746	c	MCP001	Mucopolysaccharidosis Iii	60
1747	P	MLG056	Malignant Hyperthermia	59
1748	c	PCH015	Pachyonychia Congenita 1	59
1749		DNH001	Donohue Syndrome	59
1750		SPN008	Spondyloepiphyseal Dysplasia Congenita	58
1751	c	BRD014	Bardet-Biedl Syndrome 2	58
1752		PLC005	Placental Insufficiency	58
1753		HMF006	Hemifacial Microsomia	58
1754	P	EPD009	Epidermolysis Bullosa Dystrophica	58
1755	P	WRD001	Waardenburg's Syndrome	58
1756	P	HYP035	Hypophosphatasia	58
1757	P	HLL001	Hallermann-Streiff Syndrome	58
1758	P	BCK002	Beckwith-Wiedemann Syndrome	57
1759		FCL081	Focal Cortical Dysplasia, Type Ii	57
1760	c	INT072	Intestinal Pseudo-Obstruction	57
1761	P	OCL013	Oculodentodigital Dysplasia	57
1762	c	VSC019	Vesicoureteral Reflux 1	57
1763		HYP042	Hypochondroplasia	57
1764	P	SLV001	Silver-Russell Syndrome	56
1765	c	PRX045	Peroxisome Biogenesis Disorder 1b	56
1766	P	RTH001	Rothmund-Thomson Syndrome	56
1767	P	STC001	Stickler Syndrome	56
1768	P	STS008	Sotos Syndrome 1	56
1769		HRL003	Hurler Syndrome	56
1770		PRR016	Pierre Robin Syndrome	56
1771	P	INT070	Intestinal Obstruction	56
1772	c	CHR320	Chiari Malformation Type I	55
1773		SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
1774		LPD016	Lipoid Proteinosis of Urbach and Wiethe	55
1775		CHR619	Chromosome 2q35 Duplication Syndrome	55
1776		VND007	Van Der Woude Syndrome 1	55
1777		ADR056	Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete	54
1778	c	BRD010	Bardet-Biedl Syndrome 1	54
1779		MCK005	Mckusick-Kaufman Syndrome	54
1780		ARS001	Aarskog-Scott Syndrome	54
1781		MCN007	Meconium Aspiration Syndrome	54
1782	P	SCK004	Seckel Syndrome	54
1783	c	CRP023	Carpenter Syndrome 1	54
1784		ALS001	Alstrom Syndrome	54
1785		PPL025	Popliteal Pterygium Syndrome	54
1786	P	CRN108	Cranioectodermal Dysplasia 1	53
1787		ART001	Arterial Tortuosity Syndrome	53
1788		MLT135	Multiple Sulfatase Deficiency	53
1789		ACR011	Acromesomelic Dysplasia, Maroteaux Type	53
1790		SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	53
1791		CTS003	Coats Disease	53
1792		SPR004	Supravalvular Aortic Stenosis	53
1793		MYL020	Myelomeningocele	53
1794		SMT008	Smith-Magenis Syndrome	53
1795	P	AXN002	Axenfeld-Rieger Syndrome	53
1796	c	ACH041	Achondrogenesis, Type Ii	53
1797	c	PSD066	Pseudohypoparathyroidism, Type Ib	53
1798		CLS005	Clouston Syndrome	52
1799	c	GLC097	Glaucoma 3, Primary Congenital, a	52
1800		DXT001	Dextrocardia	52
1801		EBS001	Ebstein Anomaly	52
1802		PHL006	Phelan-Mcdermid Syndrome	52
1803	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
1804		GRG001	Greig Cephalopolysyndactyly Syndrome	52
1805		ARM001	Aromatase Deficiency	52
1806	c	FML012	Familial Partial Lipodystrophy	52
1807		VTM027	Vitamin D-Dependent Rickets, Type 2a	51
1808	c	WLF013	Wolfram Syndrome 1	51
1809	c	CCK007	Cockayne Syndrome B	51
1810	P	ADM011	Adams-Oliver Syndrome	51
1811		MGL038	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	51
1812	P	SHR001	Short Bowel Syndrome	51
1813		EPD062	Epidermolysis Bullosa, Junctional, Non-Herlitz Type	51
1814		AGN012	Agnathia-Otocephaly Complex	51
1815	c	WRD030	Waardenburg Syndrome, Type 1	51
1816		MCN017	Meconium Ileus	51
1817		FRS002	Frasier Syndrome	50
1818		PTS001	Patau Syndrome	50
1819		CCH002	Coach Syndrome	50
1820		PYC001	Pycnodysostosis	50
1821		PSD012	Pseudoachondroplasia	50
1822		CHR101	Char Syndrome	50
1823		BLL001	Baller-Gerold Syndrome	50
1824		CFF003	Caffey Disease	50
1825		MLT145	Multiple Enchondromatosis, Maffucci Type	50
1826	P	GND004	Gonadal Dysgenesis	50
1827	P	PRX021	Proximal Symphalangism	50
1828	P	PSD015	Pseudohypoparathyroidism	50
1829		ULN003	Ulnar-Mammary Syndrome	50
1830		BNN001	Bannayan-Riley-Ruvalcaba Syndrome	50
1831		PYL017	Pyle Disease	50
1832	P	NLD001	Nail Disease	50
1833	c	PST041	Posterior Urethral Valves	49
1834		TTR011	Tetraploidy	49
1835	c	MCL046	Mucolipidosis Iii Alpha/beta	49
1836		DBL002	Double Outlet Right Ventricle	49
1837		CTY001	Cat Eye Syndrome	49
1838	P	FBR025	Fibrochondrogenesis	49
1839	c	RNG023	Ring Chromosome 7	49
1840		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	49
1841	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	49
1842	c	CNG216	Congenital Hydrocephalus	49
1843	P	PRN026	Porencephaly	49
1844		CTS011	Cutis Marmorata Telangiectatica Congenita	49
1845		SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	49
1846	P	WLL002	Weill-Marchesani Syndrome	49
1847		NLX004	Neu-Laxova Syndrome 1	49
1848	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
1849		OCC006	Occipital Horn Syndrome	49
1850		YNS002	Yunis-Varon Syndrome	48
1851		JCK001	Jackson-Weiss Syndrome	48
1852		BRS002	Beare-Stevenson Cutis Gyrata Syndrome	48
1853	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	48
1854		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	48
1855	c	CCK008	Cockayne Syndrome a	48
1856		CRB045	Cerebellar Hypoplasia	48
1857		CNN011	Cenani-Lenz Syndactyly Syndrome	48
1858	c	ORF037	Orofaciodigital Syndrome I	48
1859		MLL018	Miller-Dieker Lissencephaly Syndrome	48
1860		ACR012	Aicardi Syndrome	48
1861	P	ORF001	Orofaciodigital Syndrome	48
1862		GLD006	Goldberg-Shprintzen Syndrome	47
1863		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	47
1864	P	JNC001	Junctional Epidermolysis Bullosa	47
1865		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	47
1866	P	CRN013	Craniodiaphyseal Dysplasia	47
1867		PLM041	Pulmonary Valve Stenosis	47
1868		CRD002	Cri-Du-Chat Syndrome	47
1869	c	CRN139	Cornelia De Lange Syndrome 1	47
1870	c	PCH012	Pachyonychia Congenita 2	47
1871	c	BRC078	Brachydactyly, Type A1	47
1872	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	47
1873	P	MRD002	Marden-Walker Syndrome	46
1874		RNL078	Renal Dysplasia	46
1875	c	DMN023	Diamond-Blackfan Anemia 1	46
1876	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	46
1877		PST049	Postaxial Acrofacial Dysostosis	46
1878		TRC062	Tricuspid Atresia	46
1879		CHR594	Chromosome 3q29 Deletion Syndrome	46
1880	P	PRT078	Partial Lipodystrophy	46
1881		ACR058	Acrofacial Dysostosis 1, Nager Type	46
1882		NRM019	Neuraminidase Deficiency	46
1883	P	LRS001	Larsen Syndrome	46
1884		HMM003	Hemimegalencephaly	46
1885		CRN005	Craniofrontonasal Syndrome	46
1886		KPS002	Kaposiform Hemangioendothelioma	46
1887	P	SCL048	Sclerosteosis	46
1888		MCR037	Macroglossia	46
1889		GLC106	Glucocorticoid Resistance, Generalized	46
1890	c	BRD012	Bardet-Biedl Syndrome 11	45
1891		EPD061	Epidermolysis Bullosa, Junctional, Herlitz Type	45
1892	c	BRD044	Bardet-Biedl Syndrome 17	45
1893	c	WRD020	Waardenburg Syndrome, Type 4a	45
1894		BLP046	Blepharophimosis, Ptosis, and Epicanthus Inversus	45
1895	P	MLT072	Multiple Synostoses Syndrome	45
1896		FRY006	Fryns Microphthalmia Syndrome	45
1897	P	CLB034	Coloboma, Ocular, Autosomal Dominant	45
1898	c	SPL024	Split-Hand/foot Malformation 3	45
1899	c	ACH042	Achondrogenesis, Type Ib	45
1900		MLT134	Multiple Pterygium Syndrome, Lethal Type	45
1901		SHR098	Short-Rib Thoracic Dysplasia 12	45
1902	P	HYD033	Hydrolethalus Syndrome 1	45
1903		ACR013	Acrodysostosis	45
1904	P	AML002	Amelogenesis Imperfecta	45
1905		BRN003	Branchiooculofacial Syndrome	45
1906	c	EPD076	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	45
1907	P	CRN276	Corneal Endothelial Dystrophy	45
1908	P	MSC022	Mosaic Variegated Aneuploidy Syndrome	45
1909	P	CHR342	Chiari Malformation	45
1910	c	CHR579	Chiari Malformation Type Ii	45
1911		OCL033	Oculocerebral Syndrome with Hypopigmentation	45
1912		ATX031	Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus	45
1913	P	CHN044	Chondrodysplasia Punctata Syndrome	44
1914	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	44
1915	c	BRC079	Brachydactyly, Type A2	44
1916	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	44
1917	c	46X001	46 Xy Gonadal Dysgenesis	44
1918		MND021	Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome	44
1919	P	LSS036	Lissencephaly, X-Linked, 1	44
1920	P	BRC015	Bruck Syndrome	44
1921	c	HLP023	Holoprosencephaly 1	44
1922	c	BRD013	Bardet-Biedl Syndrome 12	44
1923		SPN411	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	44
1924	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
1925	P	FRN012	Frontometaphyseal Dysplasia	44
1926		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	44
1927	c	ACH033	Achondrogenesis, Type Ia	44
1928		LRN001	Laurence-Moon Syndrome	44
1929	P	ACH011	Achondrogenesis	44
1930	c	LPD019	Lipodystrophy, Partial, Acquired	43
1931	c	LSS005	Lissencephaly 1	43
1932		CHR222	Chromosome 1p36 Deletion Syndrome	43
1933	c	RNL122	Renal Hypodysplasia/aplasia 3	43
1934		BHR002	Bohring-Opitz Syndrome	43
1935		MTP025	Metaphyseal Chondrodysplasia, Schmid Type	43
1936		ASP004	Asphyxia Neonatorum	43
1937		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	43
1938	c	USH038	Usher Syndrome, Type Iiia	43
1939		CHR211	Chromosome 18p Deletion Syndrome	43
1940		TRP014	Triploidy	42
1941	c	HYP543	Hypoplastic Left Heart Syndrome 1	42
1942		LRY029	Laryngomalacia	42
1943	c	ANT077	Anterior Segment Dysgenesis 1	42
1944	P	OPT048	Opitz-Gbbb Syndrome	42
1945	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	42
1946		HND004	Hand-Foot-Genital Syndrome	42
1947	c	ORF034	Orofaciodigital Syndrome Vi	42
1948	c	BRD016	Bardet-Biedl Syndrome 4	42
1949	c	LRS002	Larsen-Like Syndrome	42
1950	c	BRD048	Bardet-Biedl Syndrome 18	42
1951	c	BRD033	Bardet-Biedl Syndrome 13	41
1952	c	SCL042	Sclerosteosis 2	41
1953		CLB010	Coloboma of Macula	41
1954	P	SYN012	Synpolydactyly	41
1955		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	41
1956		LRW001	Leri-Weill Dyschondrosteosis	41
1957		JLL001	Jalili Syndrome	41
1958	c	BRD011	Bardet-Biedl Syndrome 10	41
1959		MLT084	Multicystic Dysplastic Kidney	41
1960		PTC002	Potocki-Lupski Syndrome	41
1961		CRR002	Currarino Syndrome	41
1962	P	ORF002	Orofacial Cleft	41
1963		46X012	46,xy Partial Gonadal Dysgenesis	41
1964	c	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	41
1965		HYP776	Hyperparathyroidism, Neonatal Severe	40
1966	c	PRX059	Peroxisome Biogenesis Disorder 1a	40
1967	c	BRD020	Bardet-Biedl Syndrome 8	40
1968	c	SPN330	Spondylocostal Dysostosis 5	40
1969	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	40
1970		DDN011	Duodenal Atresia	40
1971	c	MCR263	Microphthalmia, Syndromic 1	40
1972	c	SPL034	Split-Hand/foot Malformation 4	40
1973	P	PNC045	Pancreatic Agenesis	40
1974		HMH004	Hemihyperplasia, Isolated	40
1975	c	BRD015	Bardet-Biedl Syndrome 3	40
1976		SPN060	Spondylocarpotarsal Synostosis Syndrome	40
1977	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	40
1978	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	40
1979		HRL004	Hurler-Scheie Syndrome	40
1980	c	BRD032	Bardet-Biedl Syndrome 14	40
1981		DXT002	Dextrocardia with Situs Inversus	40
1982		NTV001	Native American Myopathy	40
1983	P	PLY147	Polydactyly, Postaxial, Type A1	39
1984		RNL025	Renal Hypoplasia	39
1985	c	BRD018	Bardet-Biedl Syndrome 6	39
1986		LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	39
1987		TRP009	Triple X Syndrome	39
1988		ACH001	Acheiropody	39
1989	P	KLN006	Koolen-De Vries Syndrome	39
1990	c	FRN036	Frontonasal Dysplasia 1	39
1991		47X002	47,xyy	39
1992		FBL002	Fibular Hypoplasia and Complex Brachydactyly	39
1993	c	HLP026	Holoprosencephaly 3	39
1994		GST052	Gestational Choriocarcinoma	39
1995	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	39
1996	c	WRD032	Waardenburg Syndrome, Type 2a	39
1997	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	39
1998		ARC007	Arachnoid Cysts	39
1999	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	39
2000		BLR027	Blue Rubber Bleb Nevus	39
2001	c	DSB006	Desbuquois Dysplasia 1	39
2002		PTC001	Potocki-Shaffer Syndrome	39
2003		PRK003	Parkes Weber Syndrome	39
2004		STV003	Stuve-Wiedemann Syndrome	39
2005	c	HLP024	Holoprosencephaly 2	39
2006		SLF014	Sulfite Oxidase Deficiency, Isolated	38
2007		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	38
2008	c	HLP029	Holoprosencephaly 4	38
2009	c	BRD035	Bardet-Biedl Syndrome 15	38
2010	P	BRN042	Branchiootic Syndrome	38
2011	c	SPL067	Split-Hand/foot Malformation 1	38
2012		CHR492	Chromosome 13q14 Deletion Syndrome	38
2013		MXL016	Maxillonasal Dysplasia, Binder Type	38
2014		OPS002	Opsismodysplasia	38
2015	c	BRC081	Brachydactyly, Type C	38
2016		EPD022	Epidermolysis Bullosa Pruriginosa	38
2017	P	ATL001	Atelosteogenesis	38
2018		DPH019	Diaphanospondylodysostosis	38
2019	c	ATS393	Autosomal Recessive Cutis Laxa Type I	38
2020	P	ANT088	Anterior Segment Dysgenesis	38
2021		ACR041	Acromelic Frontonasal Dysostosis	38
2022	c	CNG413	Congenital Short Bowel Syndrome	38
2023	c	OTP007	Otopalatodigital Syndrome, Type Ii	38
2024		CRN088	Craniorachischisis	37
2025	c	PNC106	Pancreatic Agenesis 1	37
2026	P	SPL061	Split Hand-Foot Malformation	37
2027	P	MRN003	Marinesco-Sjogren Syndrome	37
2028	c	ZMM002	Zimmermann-Laband Syndrome 1	37
2029	c	RNG004	Ring Chromosome 1	37
2030	c	BRN108	Branchiootic Syndrome 1	37
2031		ANT057	Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis	37
2032	c	BRC051	Brachydactyly, Type B1	37
2033	c	BRD017	Bardet-Biedl Syndrome 5	37
2034	c	RNG008	Ring Chromosome 13	37
2035		FNT005	Fontaine Progeroid Syndrome	37
2036	c	ANT071	Anterior Segment Dysgenesis 4	37
2037		RVL002	Ruvalcaba Syndrome	37
2038	c	CTS045	Cutis Laxa, Autosomal Dominant 1	37
2039	c	MCR124	Microphthalmia, Isolated 1	36
2040	c	PSD117	Pseudohypoparathyroidism, Type Ic	36
2041		LRN006	Laurin-Sandrow Syndrome	36
2042	c	AML020	Amelogenesis Imperfecta, Type Iv	36
2043	c	ATL011	Atelosteogenesis, Type I	36
2044	c	OTP006	Otopalatodigital Syndrome, Type I	36
2045	c	SPL070	Split-Hand/foot Malformation 2	36
2046	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	36
2047	P	ANX007	Anauxetic Dysplasia 1	36
2048		CYL001	Cayler Cardiofacial Syndrome	36
2049		EMN001	Emanuel Syndrome	36
2050	c	OST126	Osteopetrosis, Autosomal Recessive 1	36
2051		ASC009	Ascites, Chylous	36
2052		CHR518	Chromosome 9p Deletion Syndrome	36
2053		TRS002	Tarsal-Carpal Coalition Syndrome	36
2054	c	STC015	Stickler Syndrome, Type I	36
2055	c	AML044	Amelogenesis Imperfecta, Type Ig	36
2056	c	RTS003	Ritscher-Schinzel Syndrome 1	36
2057	P	XLN110	X-Linked Charcot-Marie-Tooth Disease	36
2058		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	36
2059	c	ADM005	Adams-Oliver Syndrome 1	36
2060		CHN057	Chondrodysplasia, Grebe Type	36
2061		DSM002	Desmosterolosis	36
2062	c	MLG147	Malignant Hyperthermia 1	36
2063		DYS048	Dysplasia Epiphysealis Hemimelica	36
2064		CHR659	Chromosome 22q11.2 Duplication Syndrome	36
2065	c	BRC109	Brachydactyly, Type E1	36
2066	c	LSS006	Lissencephaly 2	35
2067	c	AML061	Amelogenesis Imperfecta, Type Ie	35
2068		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	35
2069	P	SYN059	Syndactyly, Type V	35
2070	c	WRD024	Waardenburg Syndrome, Type 4c	35
2071	P	SMT022	Smith-Mccort Dysplasia 1	35
2072		NNN022	Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia	35
2073		HYD001	Hydranencephaly	35
2074	c	SYN061	Syndactyly, Type Iv	35
2075		GNT026	Gnathodiaphyseal Dysplasia	35
2076		WYR002	Weyers Acrofacial Dysostosis	35
2077		EMP011	Emphysema, Congenital Lobar	35
2078		PLC006	Placental Choriocarcinoma	35
2079		CRY032	Carey-Fineman-Ziter Syndrome	35
2080		CTL005	Catel-Manzke Syndrome	35
2081		DND005	Dandy-Walker Complex	35
2082	c	LPD021	Lipodystrophy, Familial Partial, Type 3	35
2083		PRP066	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	35
2084		MTT002	Metatropic Dysplasia	35
2085		VSD002	Vas Deferens, Congenital Bilateral Aplasia of	35
2086		BSM002	Bosma Arhinia Microphthalmia Syndrome	35
2087	c	SPL033	Split-Hand/foot Malformation 6	35
2088		JBR005	Joubert Syndrome with Ocular Anomalies	35
2089	c	CHR642	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	35
2090		CRT081	Cortical Dysplasia, Complex, with Other Brain Malformations 7	35
2091	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	35
2092	P	CRB154	Cerebrocostomandibular Syndrome	34
2093		SPL068	Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive	34
2094		PLY161	Polymicrogyria, Bilateral Perisylvian, X-Linked	34
2095		SLT005	Solitary Median Maxillary Central Incisor	34
2096		CHR582	Chromosome 3q29 Duplication Syndrome	34
2097		CHR662	Chromosome 15q13.3 Deletion Syndrome	34
2098	c	ANT086	Anterior Segment Dysgenesis 2	34
2099	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	34
2100	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
2101		ACR009	Acromesomelic Dysplasia, Hunter-Thompson Type	34
2102		LTR009	Lateral Meningocele Syndrome	34
2103		FMR018	Femoral-Facial Syndrome	34
2104	c	BRD045	Bardet-Biedl Syndrome 19	34
2105	c	WRD031	Waardenburg Syndrome, Type 3	34
2106		PSD021	Pseudovaginal Perineoscrotal Hypospadias	34
2107		SCH071	Schaaf-Yang Syndrome	34
2108		TMP012	Temple Syndrome	34
2109		CHR075	Choriocarcinoma of Ovary	34
2110	c	WLF009	Wolfram Syndrome 2	34
2111	c	AML017	Amelogenesis Imperfecta, Type Ib	34
2112	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	34
2113		48X003	48,xxyy Syndrome	34
2114		FML307	Familial Calcium Pyrophosphate Deposition	33
2115	c	ATL015	Atelosteogenesis, Type Ii	33
2116		OST062	Osteoarthritis with Mild Chondrodysplasia	33
2117		LNG040	Langer Mesomelic Dysplasia	33
2118	c	PSD104	Pseudohypoparathyroidism, Type Ii	33
2119		49X002	49,xxxxy Syndrome	33
2120		MSC020	Mosaic Trisomy 8	33
2121	P	NNN028	Noonan Syndrome-Like Disorder with Loose Anagen Hair 1	33
2122		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	33
2123	c	BRD047	Bardet-Biedl Syndrome 16	33
2124		17B003	17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	33
2125		PRT049	Partial Deletion of Y	33
2126	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	33
2127		LMB010	Lambert Syndrome	33
2128		TRC097	Tracheomalacia	33
2129		KGM001	Kagami-Ogata Syndrome	33
2130		BNB002	Bainbridge-Ropers Syndrome	32
2131		OCL039	Oculoectodermal Syndrome	32
2132		GRN034	Grange Syndrome	32
2133		WTK002	Witkop Syndrome	32
2134		TRC035	Tracheal Agenesis	32
2135		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	32
2136	c	OST129	Osteopetrosis, Autosomal Recessive 2	32
2137		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	32
2138	P	MTP005	Metaphyseal Anadysplasia	32
2139		END059	Endocrine-Cerebroosteodysplasia	32
2140	c	RNG020	Ring Chromosome 4	32
2141	c	SPL025	Split-Hand/foot Malformation 5	32
2142	c	HLP028	Holoprosencephaly 5	32
2143		PRT048	Partial Atrioventricular Canal	32
2144		DYG001	Dyggve-Melchior-Clausen Disease	32
2145		HYP596	Hypophosphatasia, Childhood	32
2146	c	WRD010	Waardenburg Syndrome Type 4	32
2147	c	PRX055	Peroxisome Biogenesis Disorder 11a	32
2148		LCR013	Lacrimal Duct Defect	32
2149		SCH030	Schneckenbecken Dysplasia	32
2150		FML264	Familial Bicuspid Aortic Valve	32
2151		BLR028	Biliary Atresia, Extrahepatic	32
2152	c	NJM002	Nijmegen Breakage Syndrome-Like Disorder	31
2153	c	MTR080	Mitral Valve Prolapse 1	31
2154		ATY016	Atypical Werner Syndrome	31
2155		TTR012	Tetrasomy 9p	31
2156	c	RNG018	Ring Chromosome 22	31
2157	P	EHL081	Ehlers-Danlos Syndrome, Classic-Like	31
2158		TTR025	Tetraamelia Syndrome, Autosomal Recessive	31
2159	P	PLY148	Polydactyly, Preaxial Ii	31
2160		OTD001	Otodental Dysplasia	31
2161	c	AML057	Amelogenesis Imperfecta, Type Iiia	31
2162		PLT007	Palatopharyngeal Incompetence	31
2163		HMF010	Hemifacial Microsomia with Radial Defects	31
2164	P	MCR122	Microphthalmia, Isolated 5	31
2165	c	MCP046	Mucopolysaccharidosis, Type Iiid	31
2166		SPN362	Spondylometaphyseal Dysplasia, Sedaghatian Type	31
2167	P	ANG013	Angioma Serpiginosum	31
2168	c	PCH010	Pachyonychia Congenita 3	31
2169		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	31
2170	c	MCR211	Microphthalmia, Isolated 6	31
2171		CHR525	Chromosome Xq26.3 Duplication Syndrome	31
2172		TRP006	Tarp Syndrome	30
2173	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	30
2174	c	PRV019	Periventricular Nodular Heterotopia 1	30
2175	c	MCP048	Mucopolysaccharidosis, Type Ivb	30
2176		SPN154	Spondyloperipheral Dysplasia	30
2177		PSD046	Pseudotrisomy 13 Syndrome	30
2178	c	OMD001	Omodysplasia 1	30
2179	P	OTF004	Otofaciocervical Syndrome 1	30
2180		MSC021	Mosaic Trisomy 9	30
2181		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	30
2182		CNG041	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	30
2183		CMP035	Complete Atrioventricular Canal	30
2184	c	CCK002	Cockayne Syndrome Type I	30
2185	c	HLP027	Holoprosencephaly 7	30
2186		PRG123	Progeroid Syndrome, Neonatal	30
2187		PRG023	Progeroid Short Stature with Pigmented Nevi	30
2188	c	LSS037	Lissencephaly, X-Linked, 2	30
2189	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	30
2190		MTC018	Metachondromatosis	30
2191		CLV004	Calvarial Hyperostosis	30
2192		ASP026	Asplenia, Isolated Congenital	30
2193		SHR109	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities	30
2194		INN003	Iniencephaly	29
2195	c	WRD019	Waardenburg Syndrome, Type 4b	29
2196	c	FRN048	Frontometaphyseal Dysplasia 2	29
2197		MCR025	Microhydranencephaly	29
2198	P	SYN075	Syngnathia	29
2199	c	CCK003	Cockayne Syndrome Type Ii	29
2200		NBL001	Nablus Mask-Like Facial Syndrome	29
2201	c	MCR329	Microcephaly, Autosomal Dominant	29
2202		TRC118	Trichodentoosseous Syndrome	29
2203	c	ATL012	Atelosteogenesis, Type Iii	29
2204	c	FNC062	Fanconi Anemia, Complementation Group S	29
2205	c	SCL045	Sclerosteosis 1	29
2206		CBB002	Cobb Syndrome	29
2207	c	KNN009	Kenny-Caffey Syndrome, Type 1	29
2208	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	29
2209	P	FML284	Familial Vesicoureteral Reflux	29
2210	c	STC013	Stickler Syndrome, Type Ii	29
2211		WLD004	Wildervanck Syndrome	29
2212		CLF046	Cleft Lip/palate with Abnormal Thumbs and Microcephaly	29
2213	c	FNC023	Fanconi Anemia, Complementation Group N	29
2214		CHR523	Chromosome 15q11.2 Deletion Syndrome	29
2215		CTR014	Cataract Microcornea Syndrome	29
2216		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	29
2217		MCH011	Meacham Syndrome	29
2218		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	29
2219	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	29
2220		RBN014	Robin Sequence with Cleft Mandible and Limb Anomalies	29
2221		HYP059	Hypertelorism, Microtia, Facial Clefting Syndrome	29
2222		49X001	49, Xxxxx	29
2223	c	FNC028	Fanconi Anemia, Complementation Group L	29
2224		46X053	46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy	29
2225		VRT007	Vertical Talus, Congenital	29
2226	c	PRX063	Peroxisome Biogenesis Disorder 2a	29
2227	P	XLN161	X-Linked Chondrodysplasia Punctata	29
2228		MSM004	Mesomelia-Synostoses Syndrome	29
2229		CHR270	Chromosome 9p Duplication	28
2230		SPN151	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	28
2231	P	ZMM001	Zimmermann-Laband Syndrome	28
2232		CNG134	Congenitally Corrected Transposition of the Great Arteries	28
2233		SPN348	Spondylometaphyseal Dysplasia, Axial	28
2234		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	28
2235		CLL036	Culler-Jones Syndrome	28
2236		PLM058	Pulmonary Atresia with Intact Ventricular Septum	28
2237		PNT009	Pontine Tegmental Cap Dysplasia	28
2238		FRN022	Frontofacionasal Dysplasia	28
2239		ANR010	Aneurysm of Sinus of Valsalva	28
2240	c	BRD019	Bardet-Biedl Syndrome 7	28
2241		HYP728	Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia	28
2242	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	28
2243	c	MLT059	Multiple Synostoses Syndrome 1	28
2244	c	RNG022	Ring Chromosome 6	28
2245	c	PRX060	Peroxisome Biogenesis Disorder 5a	28
2246	c	CRN109	Cranioectodermal Dysplasia 2	28
2247		TBL008	Tibial Hemimelia	28
2248	P	DSB002	Desbuquois Dysplasia	28
2249		INF133	Inferior Vena Cava Interruption	28
2250		ADR048	Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	28
2251		TTR013	Tetrasomy X	28
2252		MTP028	Metaphyseal Dysplasia, Spahr Type	28
2253		BRN055	Bronchogenic Cyst	28
2254		DYS045	Dysosteosclerosis	28
2255	P	RTS001	Ritscher-Schinzel Syndrome	28
2256		CRD017	Cardiac Valvular Dysplasia, X-Linked	27
2257		LMB008	Limb-Mammary Syndrome	27
2258	c	MCR245	Microphthalmia, Syndromic 8	27
2259	c	PRX053	Peroxisome Biogenesis Disorder 14b	27
2260	c	LPD040	Lipodystrophy, Familial Partial, Type 1	27
2261		KLB005	Kleeblattschaedel	27
2262	c	RNG010	Ring Chromosome 15	27
2263		NNG001	Non-Gestational Choriocarcinoma	27
2264		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	27
2265		ISD002	Isodicentric Chromosome 15 Syndrome	27
2266	c	CHR641	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	27
2267		MSM016	Mesomelic Dysplasia, Kantaputra Type	27
2268	c	PRX056	Peroxisome Biogenesis Disorder 11b	27
2269	c	MSC106	Mosaic Variegated Aneuploidy Syndrome 2	27
2270		CHR229	Chromosome 20p Duplication	27
2271		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	27
2272		CRB189	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss	27
2273		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	27
2274		CHR209	Chromosome 17p Duplication	27
2275	c	ACR106	Acrocephalopolysyndactyly Type Iii	27
2276		WSM003	Weismann-Netter Syndrome	27
2277	c	ADM007	Adams-Oliver Syndrome 2	27
2278		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	27
2279		CYS041	Cystic Angiomatosis of Bone, Diffuse	27
2280	c	RNG007	Ring Chromosome 12	27
2281		SDD002	Sudden Infant Death with Dysgenesis of the Testes Syndrome	27
2282		FCL068	Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome	27
2283	c	ANT084	Anterior Segment Dysgenesis 3	27
2284		46X057	46,xy Sex Reversal 8	27
2285	c	CRP022	Carpenter Syndrome 2	27
2286	c	ALG016	Alagille Syndrome 2	27
2287		ACR104	Acrofacial Dysostosis Syndrome of Rodriguez	26
2288	c	RNG017	Ring Chromosome 21	26
2289		ACR099	Acrofacial Dysostosis, Catania Type	26
2290	c	RNG005	Ring Chromosome 10	26
2291		PGD001	Pagod Syndrome	26
2292		DFN358	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia	26
2293	c	SYN060	Syndactyly, Type Iii	26
2294	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	26
2295	c	PRT063	Proteus-Like Syndrome	26
2296	c	DNT021	Dent Disease 2	26
2297		PLY052	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	26
2298	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	26
2299		CMP025	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	26
2300		CHR212	Chromosome 18p Duplication	26
2301		CHR265	Chromosome 8p Duplication	26
2302		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	26
2303	c	BRC045	Brachyolmia Type 3	26
2304		CHR225	Chromosome 1q21.1 Duplication Syndrome	26
2305		HGH023	High Bone Mass Osteogenesis Imperfecta	26
2306		OST153	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	26
2307	c	PRX054	Peroxisome Biogenesis Disorder 12a	26
2308	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	26
2309	c	DMN017	Diamond-Blackfan Anemia 10	26
2310		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	26
2311	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	26
2312		MSC016	Mosaic Trisomy 14	26
2313	c	RNG029	Ring Chromosome 14 Syndrome	26
2314		HYP682	Hypertelorism, Teebi Type	26
2315	c	ADM010	Adams-Oliver Syndrome 5	26
2316	c	PTT029	Pitt-Hopkins-Like Syndrome 1	26
2317		ECT089	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia	26
2318	c	CRN134	Cornelia De Lange Syndrome 2	26
2319		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	26
2320		HRY005	Hairy Elbows	26
2321		HRD037	Hardikar Syndrome	26
2322		DFF022	Diffuse Neonatal Hemangiomatosis	26
2323		PSD030	Pseudodiastrophic Dysplasia	26
2324		LCH015	Lichtenstein-Knorr Syndrome	26
2325	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	26
2326		CHR266	Chromosome 8p23.1 Deletion	26
2327		CHR190	Chromosome 12p Duplication	26
2328		PNC104	Pancreatic and Cerebellar Agenesis	26
2329		HYP648	Hypertension and Brachydactyly Syndrome	26
2330	c	CHN018	Chondrodysplasia Punctata 2, X-Linked	25
2331		16Q001	16q24.3 Microdeletion Syndrome	25
2332	P	RNL123	Renal Agenesis, Bilateral	25
2333	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	25
2334	c	FRN049	Frontometaphyseal Dysplasia 1	25
2335		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	25
2336		CLF044	Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly	25
2337		BLP041	Blepharochalasis and Double Lip	25
2338		HYP180	Hypertrichosis Lanuginosa Congenita	25
2339		CHR524	Chromosome 16p13.3 Duplication Syndrome	25
2340		CDL005	Caudal Duplication Anomaly	25
2341		STB002	Satb2-Associated Syndrome	25
2342	c	LPD034	Lipodystrophy, Familial Partial, Type 4	25
2343		DPH012	Diphallia	25
2344	c	BRD050	Bardet-Biedl Syndrome 21	25
2345	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	25
2346	c	RNG016	Ring Chromosome 20	25
2347	c	HLP025	Holoprosencephaly 9	25
2348		CHR381	Chromosome 17q23.1-Q23.2 Deletion Syndrome	25
2349	c	CCK004	Cockayne Syndrome Type Iii	25
2350		SHR108	Short Stature, Idiopathic, X-Linked	25
2351	P	TTH021	Tethered Cord Syndrome	25
2352		CHR588	Chromosome 8q22.1 Duplication Syndrome	25
2353	c	DSB005	Desbuquois Dysplasia 2	25
2354	c	EPD071	Epidermolysis Bullosa Dystrophica, Autosomal Dominant	25
2355		NVR001	Nievergelt Syndrome	25
2356	c	PCH011	Pachyonychia Congenita 4	25
2357	c	LPD036	Lipodystrophy, Familial Partial, Type 6	25
2358	c	DMN022	Diamond-Blackfan Anemia 9	25
2359		PYR018	Pyruvate Dehydrogenase Phosphatase Deficiency	25
2360	c	DMN021	Diamond-Blackfan Anemia 6	25
2361		MND023	Mend Syndrome	25
2362		EPP022	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	25
2363		ANG066	Angel-Shaped Phalangoepiphyseal Dysplasia	25
2364		PRS051	Parastremmatic Dwarfism	25
2365		VSC050	Vascular Malformation, Primary Intraosseous	25
2366	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	25
2367	c	PLY149	Polydactyly, Preaxial Iv	25
2368	c	RNG024	Ring Chromosome 8	25
2369	c	FNC048	Fanconi Anemia, Complementation Group O	25
2370		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	25
2371	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	25
2372		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	25
2373	c	PLM158	Palmoplantar Keratoderma and Congenital Alopecia 1	24
2374		HYP643	Hypohidrotic Ectodermal Dysplasia with Immunodeficiency	24
2375		RCM003	Recombinant Chromosome 8 Syndrome	24
2376	c	FNC029	Fanconi Anemia, Complementation Group I	24
2377		DGT005	Digital Arthropathy-Brachydactyly, Familial	24
2378	c	RNG015	Ring Chromosome 2	24
2379		SPN358	Spondyloepimetaphyseal Dysplasia, X-Linked	24
2380	c	OMD002	Omodysplasia 2	24
2381	c	PRX065	Peroxisome Biogenesis Disorder 3a	24
2382		RMR001	Ramer Ladda Syndrome	24
2383		LLS001	Lelis Syndrome	24
2384	c	PRX091	Peroxisome Biogenesis Disorder 8a	24
2385	c	LSS025	Lissencephaly 5	24
2386	c	ORF036	Orofaciodigital Syndrome Xiv	24
2387	c	ANT085	Anterior Segment Dysgenesis 5	24
2388		PLM059	Pulmonary Atresia with Ventricular Septal Defect	24
2389		ACL002	Acalvaria	24
2390		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	24
2391	c	PTT030	Pitt-Hopkins-Like Syndrome 2	24
2392	c	PRX057	Peroxisome Biogenesis Disorder 4a	24
2393	c	KBK003	Kabuki Syndrome 2	24
2394	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	24
2395		CHR252	Chromosome 5p Duplication	24
2396	c	CRN111	Cranioectodermal Dysplasia 4	24
2397		ACR107	Acrofacial Dysostosis, Palagonia Type	24
2398	c	ANT083	Anterior Segment Dysgenesis 7	24
2399	c	PRX048	Peroxisome Biogenesis Disorder 10a	24
2400	c	PRX046	Peroxisome Biogenesis Disorder 7a	24
2401		CLF051	Cleft Larynx, Posterior	24
2402	c	LPD030	Lipodystrophy, Familial Partial, Type 5	24
2403		PRP090	Peripheral Dysostosis	24
2404		ACR079	Acrodysostosis with Multiple Hormone Resistance	24
2405	c	CHR505	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	24
2406	c	HLP016	Holoprosencephaly 11	24
2407	c	OTF003	Otofaciocervical Syndrome 2	23
2408	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	23
2409		OCL040	Oculomaxillofacial Dysostosis	23
2410	c	CRN209	Cornelia De Lange Syndrome 5	23
2411		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	23
2412	c	RNG013	Ring Chromosome 18	23
2413	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	23
2414	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	23
2415		LRY046	Laryngeal Web, Familial	23
2416	c	OST106	Osteopetrosis, Autosomal Recessive 8	23
2417		SPN152	Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta	23
2418	c	FNC046	Fanconi Anemia, Complementation Group P	23
2419		SKN024	Skin Fragility-Woolly Hair Syndrome	23
2420		LNG101	Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome	23
2421	c	SMT018	Smith-Mccort Dysplasia 2	23
2422	c	PRX052	Peroxisome Biogenesis Disorder 13a	23
2423	c	DFN331	Deafness, Congenital, with Onychodystrophy, Autosomal Dominant	23
2424	c	DMN019	Diamond-Blackfan Anemia 4	23
2425	c	BRD021	Bardet-Biedl Syndrome 9	23
2426		SPN136	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	23
2427		ART137	Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect	23
2428	c	DMN024	Diamond-Blackfan Anemia 7	23
2429		FMR016	Femur-Fibula-Ulna Syndrome	23
2430		AXL004	Axial Mesodermal Dysplasia Spectrum	23
2431	c	ORF046	Orofaciodigital Syndrome Xvi	23
2432	c	CRN110	Cranioectodermal Dysplasia 3	23
2433		CRT060	Cor Triatriatum Sinister	23
2434		PNS015	Penoscrotal Transposition	23
2435		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	23
2436		CHR268	Chromosome 8q Duplication	23
2437	c	BRN128	Branchiootic Syndrome 3	23
2438		MCR067	Microcoria, Congenital	23
2439		PLY116	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis	23
2440		BRN123	Branchial Arch Syndrome, X-Linked	23
2441		CGN001	Cogan-Reese Syndrome	23
2442		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	23
2443		AMN014	Aminopterin Syndrome Sine Aminopterin	23
2444		TBS009	Teebi-Shaltout Syndrome	23
2445		FCL067	Focal Facial Dermal Dysplasia 1, Brauer Type	23
2446	c	OST120	Osteopetrosis, Autosomal Recessive 5	23
2447	c	FCL046	Focal Facial Dermal Dysplasia 4	23
2448		CRN272	Craniometadiaphyseal Dysplasia	23
2449		BNM015	Bone Mineral Density Quantitative Trait Locus 18	23
2450		SYM024	Symphalangism, Distal	22
2451	c	PRX043	Peroxisome Biogenesis Disorder 6b	22
2452		PLY135	Polydactyly, Postaxial, with Progressive Myopia	22
2453	c	MLT060	Multiple Synostoses Syndrome 2	22
2454		OSB001	Osebold-Remondini Syndrome	22
2455	c	WRD029	Waardenburg Syndrome, Type 2b	22
2456	c	MCR137	Microphthalmia, Isolated 2	22
2457	c	PRX051	Peroxisome Biogenesis Disorder 6a	22
2458		ART056	Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay	22
2459	c	OST137	Osteopetrosis, Autosomal Recessive 4	22
2460		MCR315	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	22
2461	c	CRN221	Craniosynostosis 4	22
2462	c	SYM022	Symphalangism, Proximal, 1a	22
2463		EHL036	Ehlers-Danlos/osteogenesis Imperfecta Syndrome	22
2464	c	FBR029	Fibrochondrogenesis 1	22
2465		CHR248	Chromosome 4p Duplication	22
2466		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	22
2467		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	22
2468		GZP003	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1	22
2469	c	PRX050	Peroxisome Biogenesis Disorder 9b	22
2470		CRB165	Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation	22
2471		GNT043	Genitopalatocardiac Syndrome	22
2472	c	CRN215	Cornelia De Lange Syndrome 4	22
2473		NRD024	Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart	22
2474	c	DMN018	Diamond-Blackfan Anemia 5	22
2475	c	PRX058	Peroxisome Biogenesis Disorder 4b	22
2476	c	DMN040	Diamond-Blackfan Anemia 16	22
2477	c	ORF045	Orofaciodigital Syndrome Xv	22
2478	c	ACR105	Acrofrontofacionasal Dysostosis 2	22
2479		AKL001	Au-Kline Syndrome	22
2480		FBR087	Fibromatosis, Gingival, with Distinctive Facies	22
2481	c	CRN240	Craniometaphyseal Dysplasia, Autosomal Recessive	22
2482		CHR241	Chromosome 2q24 Microdeletion Syndrome	22
2483		LYM125	Lymphedema, Cardiac Septal Defects, and Characteristic Facies	22
2484	P	ACR108	Acrocephalopolysyndactyly Type Iv	22
2485		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	22
2486		HMR018	Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts	22
2487		ATX037	Ataxia-Deafness-Retardation Syndrome	22
2488		INF164	Infantile Bartter Syndrome with Sensorineural Deafness	22
2489		ART037	Arthrogryposis and Ectodermal Dysplasia	22
2490		LRY028	Laryngocele	22
2491		SHR102	Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures	22
2492	c	CRN135	Cornelia De Lange Syndrome 3	22
2493		SPN359	Spondyloepimetaphyseal Dysplasia, Shohat Type	22
2494	c	BRC048	Bruck Syndrome 2	22
2495		THV001	Thauvin-Robinet-Faivre Syndrome	22
2496	c	BRD051	Bardet-Biedl Syndrome 20	22
2497	c	PLM149	Palmoplantar Keratoderma and Congenital Alopecia 2	22
2498	c	DMN029	Diamond-Blackfan Anemia 11	22
2499	c	FNC047	Fanconi Anemia, Complementation Group Q	22
2500	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	22
2501	c	PRX047	Peroxisome Biogenesis Disorder 5b	22
2502	c	DMN006	Diamond-Blackfan Anemia 3	22
2503		OST168	Osteosclerotic Metaphyseal Dysplasia	22
2504	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	22
2505		URC005	Urachal Cyst	21
2506	c	BRN073	Branchiootic Syndrome 2	21
2507	c	MCR109	Microphthalmia, Isolated 4	21
2508		ACK001	Ackerman Syndrome	21
2509	c	CLB022	Coloboma, Ocular, Autosomal Recessive	21
2510	c	PRX062	Peroxisome Biogenesis Disorder 8b	21
2511	c	ADM009	Adams-Oliver Syndrome 4	21
2512	c	MCR219	Microphthalmia, Isolated 8	21
2513		VNT030	Ventriculomegaly with Cystic Kidney Disease	21
2514	c	MCR114	Microphthalmia, Isolated 3	21
2515		LMB014	Limb-Body Wall Complex	21
2516		ART030	Aortic Arch Interruption	21
2517		DPL009	Duplication of the Pituitary Gland	21
2518		ACR019	Acropectoral Syndrome	21
2519	c	RTS002	Ritscher-Schinzel Syndrome 2	21
2520		48X002	48,xxxy Syndrome	21
2521		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	21
2522		SCH025	Schisis Association	21
2523	c	ADM012	Adams-Oliver Syndrome 6	21
2524	c	MLG149	Malignant Hyperthermia 3	21
2525	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	21
2526	c	MLG148	Malignant Hyperthermia 2	21
2527		HYP212	Hypomandibular Faciocranial Dysostosis	21
2528	c	DMN020	Diamond-Blackfan Anemia 8	21
2529	c	MLT078	Multiple Synostoses Syndrome 3	21
2530	c	BRC099	Brachydactyly, Type A4	21
2531	c	WRD022	Waardenburg Syndrome, Type 2d	21
2532		MSM019	Mesomelic Dysplasia, Savarirayan Type	21
2533		PRR029	Pierre Robin Syndrome and Oligodactyly	21
2534	c	NNN027	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2	21
2535	c	NLD011	Nail Disorder, Nonsyndromic Congenital, 2	21
2536		LYM123	Lymphedema-Hypoparathyroidism Syndrome	21
2537	c	PLY136	Polydactyly, Preaxial I	21
2538		EKN001	Eiken Syndrome	21
2539		TTR021	Tetrasomy 21	21
2540	c	FNC061	Fanconi Anemia, Complementation Group W	21
2541		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	21
2542	c	FNC025	Fanconi Anemia, Complementation Group J	21
2543	c	TRC071	Treacher Collins Syndrome 3	21
2544		ODN020	Odontoma-Dysphagia Syndrome	21
2545		DRM041	Dermoid Cysts, Familial Frontonasal	21
2546		YHV001	You-Hoover-Fong Syndrome	21
2547	c	PRV018	Periventricular Nodular Heterotopia 7	21
2548		ACH039	Achalasia-Microcephaly Syndrome	21
2549	c	HLP022	Holoprosencephaly 8	21
2550	c	ORF027	Orofacial Cleft 11	21
2551		FCC002	Faciocardiorenal Syndrome	20
2552	c	ADM008	Adams-Oliver Syndrome 3	20
2553		SMM003	Summitt Syndrome	20
2554		CLF048	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features	20
2555	c	MTR083	Mitral Valve Prolapse 3	20
2556		NSD003	Nasodigitoacoustic Syndrome	20
2557		NNN007	Non-Involuting Congenital Hemangioma	20
2558		CHR368	Chromosome Xp11.23-P11.22 Duplication Syndrome	20
2559		INT231	Intellectual Disability - Athetosis - Microphthalmia	20
2560	c	FNC057	Fanconi Anemia, Complementation Group U	20
2561	c	AML047	Amelogenesis Imperfecta, Type Ia	20
2562		CTR027	Cataract-Glaucoma	20
2563	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	20
2564		KNS006	Kniest-Like Dysplasia, Lethal	20
2565		RTH002	Rutherfurd Syndrome	20
2566	P	CNG070	Congenital Dislocation of the Patella	20
2567		BLP009	Blepharonasofacial Malformation Syndrome	20
2568		THR032	Thoracolaryngopelvic Dysplasia	20
2569		8P2002	8p23.1 Duplication Syndrome	20
2570		TBT001	Tabatznik Syndrome	20
2571		ERM001	Ermine Phenotype	20
2572	c	DMN028	Diamond-Blackfan Anemia 12	20
2573	c	AML048	Amelogenesis Imperfecta, Type Ih	20
2574	c	PRX066	Peroxisome Biogenesis Disorder 3b	20
2575		MCR119	Microtia, Hearing Impairment, and Cleft Palate	20
2576		MCD004	Macdermot-Winter Syndrome	20
2577	c	FNC058	Fanconi Anemia, Complementation Group R	20
2578		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	20
2579		INT232	Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	20
2580		SGM010	Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	20
2581		FBL018	Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities	20
2582		MZB001	Mazabraud Syndrome	20
2583		CMB084	Combined Oxidative Phosphorylation Deficiency 34	20
2584		INT095	Internal Carotid Agenesis	20
2585		PLY134	Polydactyly, Postaxial, with Dental and Vertebral Anomalies	20
2586	c	FNC052	Fanconi Anemia, Complementation Group T	20
2587		SCH031	Scholte Syndrome	20
2588	c	TRC073	Treacher Collins Syndrome 2	20
2589	c	MLG150	Malignant Hyperthermia 4	20
2590		RDR002	Rodrigues Blindness	20
2591		HYD053	Hydrocephalus with Associated Malformations	20
2592		TBL027	Tubulinopathy-Associated Dysgyria	20
2593		ATK002	Atkin-Flaitz Syndrome	20
2594		DYS179	Dyssegmental Dysplasia, Rolland-Desbuquois Type	19
2595	c	JVN025	Juvenile Primary Osteoporosis	19
2596		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	19
2597	c	FNC056	Fanconi Anemia, Complementation Group V	19
2598	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	19
2599		SND006	Sonoda Syndrome	19
2600	c	CHR464	Chronic Intestinal Failure	19
2601		CRN076	Crane-Heise Syndrome	19
2602	c	AML050	Amelogenesis Imperfecta, Type if	19
2603		1Q4001	1q44 Microdeletion Syndrome	19
2604		CHR416	Chromosome 17q Deletion	19
2605		MLT148	Multiple Pterygium Syndrome, X-Linked	19
2606		SPS192	Spastic Paraparesis and Deafness	19
2607	c	PRV016	Periventricular Nodular Heterotopia 6	19
2608		GND012	Gonadal Dysgenesis, Xy Type, with Associated Anomalies	19
2609	c	AML018	Amelogenesis Imperfecta, Type Ic	19
2610		SHR112	Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies	19
2611	c	RTH005	Rothmund-Thomson Syndrome Type 2	19
2612		48X005	48,xyyy	19
2613	c	ZMM003	Zimmermann-Laband Syndrome 2	19
2614		ULN005	Ulna and Fibula, Hypoplasia of	19
2615		CHR457	Chromosome 17p13.1 Deletion Syndrome	19
2616		HYP489	Hypotrichosis-Deafness Syndrome	19
2617		CLB018	Coloboma of Eyelid	19
2618		PHC016	Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia	19
2619	c	RNG006	Ring Chromosome 11	19
2620		BRN125	Branchiogenic-Deafness Syndrome	19
2621		DFF027	Diffuse Lymphatic Malformation	19
2622		CRB161	Cerebellar Ataxia and Ectodermal Dysplasia	19
2623		FCL066	Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type	19
2624	c	BRC035	Brachydactyly Type A5	19
2625		FCC003	Faciocardiomelic Dysplasia, Lethal	19
2626	P	PRX064	Peroxisome Biogenesis Disorder 2b	19
2627	c	FBR030	Fibrochondrogenesis 2	19
2628	c	VSC046	Vesicoureteral Reflux 8	19
2629		ECT090	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum	19
2630		PLD002	Pilodental Dysplasia with Refractive Errors	19
2631		CHN040	Choanal Atresia and Lymphedema	19
2632		APH015	Aphalangy with Hemivertebrae	19
2633	c	MLG151	Malignant Hyperthermia 5	19
2634		BLP011	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	19
2635		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	19
2636	c	RNL099	Renal Hypodysplasia/aplasia 2	19
2637	c	HYD040	Hydrolethalus Syndrome 2	19
2638	c	RNG025	Ring Chromosome 9	19
2639		49X005	49, Xxxyy Syndrome	19
2640	c	ANX008	Anauxetic Dysplasia 2	18
2641	c	ORF052	Orofaciodigital Syndrome Xviii	18
2642		NNG002	Non-Gestational Ovarian Choriocarcinoma	18
2643		THR033	Thoracomelic Dysplasia	18
2644		OMP008	Omphalocele-Cleft Palate Syndrome, Lethal	18
2645		HMR016	Humeroradioulnar Synostosis	18
2646		OST148	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	18
2647	c	ORF051	Orofaciodigital Syndrome Xvii	18
2648		MTC100	Metacarpal 4-5 Fusion	18
2649		SPC024	Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease	18
2650		SCL051	Scalp Defects and Postaxial Polydactyly	18
2651		TRC113	Trichoodontoonychial Dysplasia with Bone Deficiency	18
2652		DBL007	Double Outlet Left Ventricle	18
2653		BRC100	Brachydactyly, Combined B and E Types	18
2654	P	CHR200	Chromosome 16 Trisomy	18
2655		BMR004	Beemer Lethal Malformation Syndrome	18
2656		19P001	19p13.12 Microdeletion Syndrome	18
2657		LSS034	Lissencephaly Type Iii and Bone Dysplasia	18
2658	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	18
2659		ZCH002	Zechi-Ceide Syndrome	18
2660	c	CRN068	Corneal Endothelial Dystrophy Type 2	18
2661	c	ANT087	Anterior Segment Dysgenesis 6	18
2662		DYS180	Dyschondrosteosis and Nephritis	18
2663		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	18
2664	c	PRX068	Peroxisome Biogenesis Disorder 7b	18
2665	c	ANT067	Anterior Segment Dysgenesis 8	18
2666	c	PNC105	Pancreatic Agenesis 2	18
2667		BRC094	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	18
2668		SPN349	Spondylometaphyseal Dysplasia, Type A4	18
2669	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	18
2670		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	18
2671		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	18
2672		SPN353	Spondylometaphyseal Dysplasia, X-Linked	18
2673		ANR044	Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation	18
2674		OPT058	Optic Disc Anomalies with Retinal and/or Macular Dystrophy	18
2675	c	HYP517	Hypoplastic Left Heart Syndrome 2	18
2676	c	ORF047	Orofacial Cleft 15	18
2677	c	MTR077	Mitral Valve Prolapse 2	18
2678		HYP561	Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness