Fetal Diseases Category (5192 diseases)

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

#	Family	MCID	Name	MIFTS
1	P	EMB005	Embryonal Rhabdomyosarcoma	52
2		CHL153	Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified	5
3		FTL028	Fetal Retinoid Syndrome	15
4		ACT091	Acitretin Embryopathy	7
5	c	LYM145	Lymphatic Malformation 5	52
6	c	LYM144	Lymphatic Malformation 1	47
7	P	LYM127	Lymphatic Malformations	44
8	P	PRG092	Pregnancy Loss, Recurrent 1	40
9	c	LYM150	Lymphatic Malformation 7	40
10	c	RRL003	Rare Lymphatic Malformation	32
11	c	LYM147	Lymphatic Malformation 3	23
12	c	LYM148	Lymphatic Malformation 4	21
13	c	LYM146	Lymphatic Malformation 2	16
14	P	PRM252	Preimplantation Embryonic Lethality 1	21
15		TWN001	Twin-to-Twin Transfusion Syndrome	46
16		NCH001	Nuchal Bleb, Familial	24
17	c	FTL006	Fetal Alcohol Spectrum Disorder	45
18	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	44
19		CHL043	Childhood Embryonal Testis Carcinoma	9
20		CRD031	Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification	8
21		FTL004	Fetal Erythroblastosis	37
22		OVR050	Ovarian Embryonal Carcinoma	37
23		CHL026	Childhood Ovarian Embryonal Carcinoma	8
24	c	ADL007	Adult Central Nervous System Embryonal Carcinoma	8
25		FTL066	Fetal Akinesia Syndrome, X-Linked	12
26		FTL011	Fetal Aminopterin Syndrome	11
27	P	PRS062	Persistent Hyperplastic Primary Vitreous	43
28		GRM001	Germ Cell and Embryonal Cancer	31
29	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	21
30	c	PRM251	Preimplantation Embryonic Lethality 2	16
31	c	PRS137	Persistent Hyperplastic Primary Vitreous, Autosomal Dominant	12
32		PDT006	Pediatric Cns Embryonal Cell Carcinoma	7
33	c	CTR102	Cataract 2, Multiple Types	31
34		FTL016	Fetal Edema	24
35		ORB002	Orbit Embryonal Rhabdomyosarcoma	19
36		PRS010	Prostate Embryonal Rhabdomyosarcoma	18
37	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	15
38		VLV013	Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma	6
39		NNC014	Non-Central Nervous System-Localized Embryonal Carcinoma	5
40	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	42
41		GCH018	Gaucher Disease, Perinatal Lethal	39
42	c	FTL070	Fetal Akinesia Deformation Sequence 2	33
43	c	FTL071	Fetal Akinesia Deformation Sequence 3	23
44	c	FTL072	Fetal Akinesia Deformation Sequence 4	20
45		MRS006	Morse-Rawnsley-Sargent Syndrome	4
46		EMB002	Embryoma	45
47		ALC001	Alcohol-Related Birth Defect	34
48		PRT001	Partial Fetal Alcohol Syndrome	26
49		PRM208	Parameningeal Embryonal Rhabdomyosarcoma	16
50		FTL021	Fetal Macrosomia	43
51	c	LTH008	Lethal Congenital Contracture Syndrome 2	42
52	P	LTH003	Lethal Congenital Contracture Syndrome	38
53	c	CTR132	Cataract 3, Multiple Types	38
54	c	NML025	Nemaline Myopathy 8	25
55	c	LTH047	Lethal Congenital Contracture Syndrome 3	25
56	c	LTH027	Lethal Congenital Contracture Syndrome 5	25
57		PRV001	Parovarian Cyst	24
58	c	LTH039	Lethal Congenital Contracture Syndrome 11	23
59		FTL005	Fetal Adenoma	21
60	c	LTH029	Lethal Congenital Contracture Syndrome 9	21
61	c	LTH026	Lethal Congenital Contracture Syndrome 4	20
62	c	LTH031	Lethal Congenital Contracture Syndrome 6	20
63		MTR016	Maternal Hyperphenylalaninemia	20
64		CCN012	Cocaine Antenatal Exposure	15
65		FTL048	Fetal Lung Interstitial Tumor	15
66		NNT022	Neonatal Ovarian Cyst	14
67		RR2001	Ror2-Related Robinow Syndrome	11
68		FTL020	Fetal Left Ventricular Aneurysm	9
69		THY113	Thymic Aplasia with Fetal Death	7
70		MXD015	Mixed Type Rhabdomyosarcoma	5
71		RRG014	Rare Genetic Developmental Defect During Embryogenesis	5
72		SMT021	Somatomedin, Embryonic	4
73		FTL063	Fetal Nicotine Spectrum Disorder	3
74		EMB017	Embryonal Tumor of Neuroepithelial Tissue	3
75		NNR010	Non-Rare Developmental Anomalies During Embryogenesis	3
76		OBS251	Obsolete: Embryonary Disorganization Syndrome	2
77		OBS547	Obsolete: Idiopathic Hydrops Fetalis	2
78		FTL025	Fetal Parainfluenza Virus Type 3 Syndrome	1
79		FTL027	Fetal Phenothiazine Syndrome	1
80		KPS004	Kaposi Sarcoma	75
81	P	OST001	Osteopetrosis	70
82	P	HYD006	Hydrocephalus	68
83	P	PSD087	Pseudoxanthoma Elasticum	67
84	P	CTR002	Cataract	62
85	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	62
86		GRG001	Greig Cephalopolysyndactyly Syndrome	61
87		LCR014	Lacrimoauriculodentodigital Syndrome	61
88		TKY002	Takayasu Arteritis	61
89		RBR001	Roberts Syndrome	61
90	P	CTS001	Cutis Laxa	60
91	P	EHL001	Ehlers-Danlos Syndrome	60
92	P	SYP003	Syphilis	59
93	P	PLY006	Polydactyly	58
94		NWB001	Newborn Respiratory Distress Syndrome	58
95		DNN002	Donnai-Barrow Syndrome	57
96	P	SLV001	Silver-Russell Syndrome	55
97	c	GLC097	Glaucoma 3, Primary Congenital, a	55
98		FRY006	Fryns Microphthalmia Syndrome	55
99		WVR001	Weaver Syndrome	54
100	P	HYP050	Hyperinsulinemic Hypoglycemia	54
101	c	BRC078	Brachydactyly, Type A1	54
102	P	MTR003	Mitral Valve Stenosis	54
103		BRN003	Branchiooculofacial Syndrome	54
104		OLG003	Oligohydramnios	53
105		MGL038	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	53
106	P	VND007	Van Der Woude Syndrome 1	52
107	c	BRC051	Brachydactyly, Type B1	51
108		OVR082	Overgrowth Syndrome	51
109	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	51
110		CHR005	Chorioamnionitis	51
111	P	SYR001	Syringomyelia	51
112	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	51
113	P	OMP004	Omphalocele	51
114	c	PST041	Posterior Urethral Valves	50
115	P	NNT009	Neonatal Diabetes Mellitus	50
116	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	49
117		TRC109	Tracheoesophageal Fistula with or Without Esophageal Atresia	49
118	P	FRN012	Frontometaphyseal Dysplasia	49
119		47X002	47,xyy	49
120	c	ATS393	Autosomal Recessive Cutis Laxa Type I	49
121		HYL004	Hyaline Fibromatosis Syndrome	49
122		TRC062	Tricuspid Atresia	49
123		JHN001	Johanson-Blizzard Syndrome	49
124		KBG001	Kbg Syndrome	49
125		PLY012	Polyhydramnios	48
126		NNT012	Neonatal Jaundice	48
127	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	48
128		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	48
129	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	48
130	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	48
131		PLM041	Pulmonary Valve Stenosis	48
132		PLC007	Placental Abruption	47
133	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	47
134		HMH004	Hemihyperplasia, Isolated	47
135	P	DNR001	Duane Retraction Syndrome	47
136	P	SMP003	Simpson-Golabi-Behmel Syndrome	47
137	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	47
138		CHR222	Chromosome 1p36 Deletion Syndrome	46
139	P	HRN001	Horner's Syndrome	46
140	P	KLF001	Kleefstra Syndrome	46
141	P	SXD002	Sex Development Disorder	45
142		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	45
143	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	45
144	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	45
145		PTC002	Potocki-Lupski Syndrome	45
146	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	45
147		CYN002	Cyanosis, Transient Neonatal	45
148		THR009	Thrombocytopenia-Absent Radius Syndrome	44
149		SHR098	Short-Rib Thoracic Dysplasia 12	44
150	P	OCY003	Oocyte Maturation Defect 1	44
151		PLC001	Placenta Accreta	44
152		TRN044	Transposition of the Great Arteries	44
153		RNS001	Raine Syndrome	43
154		DYS018	Dysostosis	43
155	c	LSS006	Lissencephaly 2	43
156		LYM029	Lymphedema-Distichiasis Syndrome	43
157		DBT090	Diabetes and Deafness, Maternally Inherited	43
158	c	RNG023	Ring Chromosome 7	43
159	P	RNG032	Ring Chromosome	43
160	c	WRD031	Waardenburg Syndrome, Type 3	43
161	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	43
162		CLF056	Cleft Lip with or Without Cleft Palate	42
163	c	PRM032	Primary Congenital Glaucoma	42
164	c	OST129	Osteopetrosis, Autosomal Recessive 2	42
165	c	PNT036	Pontocerebellar Hypoplasia, Type 6	41
166		GNT031	Genitopatellar Syndrome	41
167		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	41
168		PLY100	Polyploidy	41
169	c	MYS055	Myasthenic Syndrome, Congenital, 6, Presynaptic	40
170		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	40
171	c	DNR003	Duane Retraction Syndrome 1	40
172	c	PTT029	Pitt-Hopkins-Like Syndrome 1	40
173	c	TRN032	Transient Neonatal Diabetes Mellitus	40
174		PLL008	Pallister-Killian Syndrome	39
175		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	39
176	c	OST126	Osteopetrosis, Autosomal Recessive 1	39
177	c	MCR263	Microphthalmia, Syndromic 1	39
178		SCR035	Sacral Agenesis with Vertebral Anomalies	39
179		MLL009	Mullerian Aplasia	39
180		HYP223	Hypoplastic Right Heart Syndrome	38
181	c	CTR096	Cataract 6, Multiple Types	38
182	P	PLY148	Polydactyly, Preaxial Ii	38
183		THR017	Thoracoabdominal Syndrome	38
184	c	CTR130	Cataract 9, Multiple Types	38
185	c	CNG033	Congenital Syphilis	38
186	c	XFP001	Xfe Progeroid Syndrome	38
187	c	KLF004	Kleefstra Syndrome 1	38
188	c	CTR103	Cataract 4, Multiple Types	38
189	c	SCN006	Secondary Syphilis	38
190	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	38
191	c	SYN084	Synpolydactyly 1	38
192		KFM001	Kaufman Oculocerebrofacial Syndrome	38
193		SHR120	Short Rib-Polydactyly Syndrome, Majewski Type	37
194	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	37
195		48X005	48,xyyy	37
196	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
197	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	37
198		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	37
199		ALB014	Alobar Holoprosencephaly	37
200	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	37
201		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	36
202		CHR518	Chromosome 9p Deletion Syndrome	36
203		DSR012	Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency	36
204		PRT048	Partial Atrioventricular Canal	36
205		RVL002	Ruvalcaba Syndrome	36
206		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	36
207		KGM001	Kagami-Ogata Syndrome	36
208		CHR667	Chromosome 3pter-P25 Deletion Syndrome	36
209	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	36
210	P	SYN059	Syndactyly, Type V	36
211	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	35
212		PLC009	Placenta Praevia	35
213	c	CTR141	Cataract 21, Multiple Types	35
214	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
215		PLT007	Palatopharyngeal Incompetence	35
216	c	CTR118	Cataract 14, Multiple Types	35
217	c	CTR170	Cataract 30, Multiple Types	35
218		FCL090	Facial Cleft	35
219	c	CTR174	Cataract 40	35
220	c	CTR122	Cataract 5, Multiple Types	35
221	c	CTR115	Cataract 16, Multiple Types	35
222		BRC004	Brachydactyly-Syndactyly Syndrome	35
223	P	PK3005	Pik3ca-Related Overgrowth Syndrome	35
224	c	FRN049	Frontometaphyseal Dysplasia 1	34
225		CLF028	Cleft Soft Palate	34
226		MDL020	Midline Interhemispheric Variant of Holoprosencephaly	34
227	c	RNG020	Ring Chromosome 4	34
228	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	34
229	c	CTR145	Cataract 44	34
230		PRT049	Partial Deletion of Y	34
231	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	34
232		PTC001	Potocki-Shaffer Syndrome	34
233		MCR096	Macrocephaly/autism Syndrome	34
234		CHR377	Chromosome 10q26 Deletion Syndrome	34
235	c	RNG004	Ring Chromosome 1	34
236	P	MXD016	Mixed Gonadal Dysgenesis	34
237		ELS006	Elsahy-Waters Syndrome	34
238	c	MNS014	Monosomy 22	33
239		NNT004	Neonatal Respiratory Failure	33
240		MCR099	Microlissencephaly	33
241	c	GLC083	Glaucoma 3, Primary Infantile, B	33
242	c	STS007	Sotos Syndrome 2	32
243		CRB147	Cerebellofaciodental Syndrome	32
244	P	46X071	46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect	32
245		EMN001	Emanuel Syndrome	32
246		INF021	Infant Gynecomastia	32
247		JBR005	Joubert Syndrome with Ocular Anomalies	32
248	c	VCT004	Vacterl Association with Hydrocephalus	32
249		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	32
250	c	CTR129	Cataract 31, Multiple Types	31
251		MLR023	Melorheostosis, Isolated	31
252		TRG019	Trigonocephaly with Short Stature and Developmental Delay	31
253	P	AML065	Amelia	31
254	c	ANT083	Anterior Segment Dysgenesis 7	31
255		ISL096	Isolated Klippel-Feil Syndrome	31
256	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	31
257		PYR018	Pyruvate Dehydrogenase Phosphatase Deficiency	31
258		NNT005	Neonatal Candidiasis	31
259		HYD048	Hydrocephalus with Stenosis of the Aqueduct of Sylvius	30
260	c	ART104	Arthrogryposis, Distal, Type 5d	30
261		PLM151	Pulmonary Arteriovenous Fistulas	30
262	c	PNT039	Pontocerebellar Hypoplasia, Type 7	30
263	c	PRM022	Primary Syphilis	30
264		MCR302	Macrostomia, Isolated	30
265	P	SCL047	Sclerocornea	30
266		LMB010	Lambert Syndrome	30
267		ZTT001	Zttk Syndrome	29
268		ATR088	Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects	29
269	P	CRN249	Cornea Plana	29
270	c	RNG008	Ring Chromosome 13	29
271		PLM059	Pulmonary Atresia with Ventricular Septal Defect	29
272		ANR010	Aneurysm of Sinus of Valsalva	29
273	c	CTR181	Cataract 18	29
274	P	ACR106	Acrocephalopolysyndactyly Type Iii	29
275	c	ERL012	Early-Onset Glaucoma	29
276	c	CTR095	Cataract 8, Multiple Types	29
277	c	FRN048	Frontometaphyseal Dysplasia 2	28
278		MSC021	Mosaic Trisomy 9	28
279		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	28
280	c	PTT030	Pitt-Hopkins-Like Syndrome 2	28
281		DST008	Diastematomyelia	28
282	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	28
283	c	CTR175	Cataract 24	28
284		ATY016	Atypical Werner Syndrome	28
285	c	CTR166	Cataract 33, Multiple Types	28
286	c	CTS031	Cutis Laxa, Autosomal Dominant 2	28
287	c	CTR113	Cataract 11, Multiple Types	28
288	c	RNG016	Ring Chromosome 20	28
289		CMP035	Complete Atrioventricular Canal	28
290		SPN125	Spondyloenchondrodysplasia	28
291		49X001	49, Xxxxx	28
292		TBL008	Tibial Hemimelia	27
293		CHR270	Chromosome 9p Duplication	27
294		TTR014	Tetrasomy 18p	27
295		CRL006	Caroli Disease, Isolated	27
296	P	PRG139	Progeroid Syndrome	27
297	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	27
298	c	CTR158	Cataract 37	27
299		TTR012	Tetrasomy 9p	27
300		CRN264	Craniosynostosis with Fibular Aplasia	27
301	c	OST120	Osteopetrosis, Autosomal Recessive 5	27
302		PSD046	Pseudotrisomy 13 Syndrome	27
303	c	OST137	Osteopetrosis, Autosomal Recessive 4	27
304	c	ERL002	Early Congenital Syphilis	27
305	c	MYS069	Myasthenic Syndrome, Congenital, 21, Presynaptic	27
306	c	PTT042	Pitt-Hopkins-Like Syndrome	27
307	c	CTS041	Cutis Laxa, Autosomal Dominant 3	26
308		ATY022	Atypical Coarctation of Aorta	26
309		UTR054	Uterine Hypoplasia	26
310	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	26
311	c	CTR180	Cataract 22, Multiple Types	26
312		FRN022	Frontofacionasal Dysplasia	26
313		CLF046	Cleft Lip/palate with Abnormal Thumbs and Microcephaly	26
314		CMP097	Complex Chromosomal Rearrangement	26
315	c	PK3004	Pik3ca-Related Overgrowth Spectrum	26
316	c	RNG017	Ring Chromosome 21	26
317	c	ACQ027	Acquired Cutis Laxa	26
318		CHR588	Chromosome 8q22.1 Duplication Syndrome	26
319		CHR524	Chromosome 16p13.3 Duplication Syndrome	26
320		CHR268	Chromosome 8q Duplication	26
321	c	FRN032	Frontonasal Dysplasia 3	26
322	c	RNG007	Ring Chromosome 12	25
323		MSC016	Mosaic Trisomy 14	25
324	c	DNR004	Duane Retraction Syndrome 2	25
325	c	CLR135	Ciliary Dyskinesia, Primary, 7	25
326	c	FRN037	Frontal Encephalocele	25
327		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	25
328	P	TRS029	Trisomy 1q	25
329		TRC110	Tracheobronchial Stenosis, Congenital	25
330		DPH012	Diphallia	25
331		RCM003	Recombinant Chromosome 8 Syndrome	25
332		OCL040	Oculomaxillofacial Dysostosis	25
333	P	UNP013	Uniparental Disomy of Chromosome 1	25
334	c	LTC001	Late Congenital Syphilis	25
335		MYM012	Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism	25
336	P	BLT016	Bilateral Polymicrogyria	25
337		BCR002	Bicornuate Uterus	25
338	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	25
339	c	TYP003	Type I Ehlers-Danlos Syndrome	25
340		KPR003	Keipert Syndrome	25
341		PLY110	Polymicrogyria, Bilateral Temporooccipital	25
342	c	RNG013	Ring Chromosome 18	25
343	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	25
344		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	24
345	c	HYD040	Hydrolethalus Syndrome 2	24
346		PRT131	Partial Trisomy Distal 4q	24
347	c	CTR131	Cataract 17, Multiple Types	24
348	P	VCT008	Vacterl with Hydrocephalus	24
349	c	VND004	Van Der Woude Syndrome 2	24
350		MCR067	Microcoria, Congenital	24
351	c	CTR111	Cataract 36	24
352		ASS004	Aase-Smith Syndrome I	24
353	c	CTR165	Cataract 19, Multiple Types	24
354		PNS015	Penoscrotal Transposition	24
355		CHR487	Chromosome 8q21.11 Deletion Syndrome	24
356	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	24
357		CHR502	Chromosome 17q12 Duplication Syndrome	24
358	P	SPN236	Spina Bifida Cystica	24
359	c	CRN280	Cornea Plana 2, Autosomal Recessive	24
360	c	SYN140	Syndrome with 46,xy Disorder of Sex Development	23
361	c	CTR136	Cataract 41	23
362	c	CTR110	Cataract 26, Multiple Types	23
363	c	OST106	Osteopetrosis, Autosomal Recessive 8	23
364	c	SYN088	Synpolydactyly 2	23
365	c	CTR183	Cataract 38	23
366		HML054	Hemolytic Disease Due to Fetomaternal Alloimmunization	23
367	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	23
368		TTR021	Tetrasomy 21	23
369		CHR393	Chromosome 19p13.13 Deletion Syndrome	23
370		48X002	48,xxxy Syndrome	23
371	c	CTR125	Cataract 7	23
372	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	23
373	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	23
374		MMM002	Mammary-Digital-Nail Syndrome	23
375		DVL022	Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair	23
376		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	23
377		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	23
378	c	FCL056	Facial Paresis, Hereditary Congenital, 3	22
379	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	22
380	c	CTR162	Cataract 47	22
381	c	CRB209	Cerebellar Malformation	22
382		PLY116	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis	22
383		PRP101	Peripheral Pulmonary Stenosis	22
384		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	22
385	c	CTR169	Cataract 29	22
386		MCR310	Microgastria-Limb Reduction Defects Association	22
387		DFF022	Diffuse Neonatal Hemangiomatosis	22
388		HYP212	Hypomandibular Faciocranial Dysostosis	22
389		SYM024	Symphalangism, Distal	22
390		CHR457	Chromosome 17p13.1 Deletion Syndrome	22
391		SPN365	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	22
392	c	CTR184	Cataract 39, Multiple Types	22
393		ADD006	Adducted Thumbs Syndrome	22
394	c	GLC054	Glaucoma 3, Primary Congenital, D	22
395	c	APR009	Aprosencephaly Syndrome	22
396	c	PLY137	Polydactyly, Preaxial Iii	22
397		LMB014	Limb-Body Wall Complex	22
398		PLY135	Polydactyly, Postaxial, with Progressive Myopia	22
399		CHR266	Chromosome 8p23.1 Deletion	22
400	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	22
401		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	22
402	c	CTR187	Cataract 48	22
403		CLB011	Coloboma of Macula with Type B Brachydactyly	22
404		CHR620	Chromosome 16p11.2 Deletion Syndrome, 220-Kb	21
405	c	OMP009	Omphalocele, Autosomal	21
406		MSL005	Mseleni Joint Disease	21
407	c	CTR163	Cataract 46, Juvenile-Onset	21
408	c	KLF005	Kleefstra Syndrome 2	21
409		SCH025	Schisis Association	21
410		PHK008	Phakomatosis Cesioflammea	21
411		EXT062	Extracranial Carotid Artery Aneurysm	21
412	c	BRC053	Brachyolmia Type 2	21
413		BRN123	Branchial Arch Syndrome, X-Linked	21
414		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	21
415	c	LTH030	Lethal Congenital Contracture Syndrome 8	21
416		CHR610	Chromosome 10q22.3-Q23.2 Deletion Syndrome	21
417	c	OST171	Osteopetrosis, Autosomal Dominant 3	21
418		CHR616	Chromosome 19q13.11 Deletion Syndrome, Distal	21
419		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	21
420	c	HRN024	Horner Syndrome, Congenital	21
421	c	45X001	45,x/46,xy Mixed Gonadal Dysgenesis	21
422	c	46X011	46, Xy Disorders of Sexual Development	20
423	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	20
424		DPL007	Duplication of Urethra	20
425		QDR002	Quadricuspid Aortic Valve	20
426	c	LSS030	Lissencephaly 7 with Cerebellar Hypoplasia	20
427		CMP039	Camptodactyly 1	20
428	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	20
429	c	CTR119	Cataract 32, Multiple Types	20
430		CRN311	Coronary Ostial Stenosis or Atresia	20
431	c	CTR144	Cataract 43	20
432		8P2002	8p23.1 Duplication Syndrome	20
433	c	ANT087	Anterior Segment Dysgenesis 6	20
434	c	CTR159	Cataract 35	20
435		ULN005	Ulna and Fibula, Hypoplasia of	20
436		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	20
437		ISL084	Isolated Trigonocephaly	20
438	c	CTR097	Cataract 34, Multiple Types	20
439	P	CHR200	Chromosome 16 Trisomy	20
440		ATK002	Atkin-Flaitz Syndrome	20
441	c	CTR185	Cataract 30	20
442		ACH039	Achalasia-Microcephaly Syndrome	20
443	c	RNG012	Ring Chromosome 17	20
444		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	20
445	c	CTR106	Cataract 20, Multiple Types	20
446	c	CTR139	Cataract 42	20
447		PTL010	Patella Aplasia-Hypoplasia	19
448		CHR507	Chromosome Xq27.3-Q28 Duplication Syndrome	19
449		FMR013	Femoral Agenesis/hypoplasia	19
450		CHR368	Chromosome Xp11.23-P11.22 Duplication Syndrome	19
451	c	SCN048	Secondary Syringomyelia	19
452	c	OCY002	Oocyte Maturation Defect 2	19
453		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	19
454	c	FCL030	Facial Paresis, Hereditary Congenital, 1	19
455		NSL020	Nasal Glial Heterotopia	19
456	c	OCY005	Oocyte Maturation Defect 4	19
457	c	CTR160	Cataract 45	19
458		CHR182	Chromosome 10p Duplication	19
459		FBR087	Fibromatosis, Gingival, with Distinctive Facies	19
460		MSC019	Mosaic Trisomy 7	19
461	P	PTR018	Paternal Uniparental Disomy of Chromosome 6	19
462	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	19
463	c	CTR121	Cataract 25	19
464	c	UNP012	Uniparental Disomy of Chromosome 7	19
465		CNG009	Congenital Aortic Valve Stenosis	19
466	c	ART158	Arthrogryposis Multiplex Congenita, Myogenic Type	19
467		XLN086	X-Linked Ehlers-Danlos Syndrome	19
468	c	ACR108	Acrocephalopolysyndactyly Type Iv	19
469		CLR127	Ciliary Dyskinesia, Primary, 36, X-Linked	19
470		CRV063	Cervical Spina Bifida Aperta	19
471	c	GLC089	Glaucoma 3, Primary Congenital, E	18
472		MYL044	Myelocystocele	18
473		XQ2003	Xq25 Duplication Syndrome	18
474		SCL051	Scalp Defects and Postaxial Polydactyly	18
475		6QT002	6q Terminal Deletion Syndrome	18
476		SMM003	Summitt Syndrome	18
477		DST044	Distal Trisomy 14q	18
478	P	HRD043	Hereditary Congenital Facial Paresis	18
479		OMP008	Omphalocele-Cleft Palate Syndrome, Lethal	18
480		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	18
481		CHR416	Chromosome 17q Deletion	18
482		2Q3005	2q31.1 Microdeletion Syndrome	18
483		JNT004	Joint Laxity, Short Stature, and Myopia	18
484	c	HYD042	Hydrocephalus, Autosomal Dominant	18
485	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	18
486		VRR008	Verrucous Hemangioma	18
487	c	CTR178	Cataract 27	18
488	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	18
489	c	CTR157	Cataract 28	18
490	c	CRN279	Cornea Plana 1, Autosomal Dominant	18
491		ECT069	Ectodermal Dysplasia 8, Hair/tooth/nail Type	18
492		CHR584	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb	18
493		MCR311	Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome	18
494	c	SYN040	Synpolydactyly 3	17
495		CNG491	Congenital Portosystemic Shunt	17
496		PLM067	Pulmonary Valves Agenesis	17
497		DYS134	Dysspondyloenchondromatosis	17
498		BLP042	Blepharoptosis, Myopia, and Ectopia Lentis	17
499		WLS002	Wilson-Mikity Syndrome	17
500		SXC007	Sex-Chromosome Anomaly	17
501		THR109	Thoracic Dysplasia-Hydrocephalus Syndrome	17
502		CRV061	Cervicothoracic Spina Bifida Cystica	17
503		THR084	Thoracolumbosacral Spina Bifida Cystica	17
504	c	TTL008	Total Spina Bifida Cystica	17
505	c	OCY006	Oocyte Maturation Defect 5	17
506	c	OCY007	Oocyte Maturation Defect 6	17
507		RTF001	Retiform Hemangioendothelioma	17
508	P	XKP001	Xk Aprosencephaly	17
509		EDN001	Edinburgh Malformation Syndrome	17
510		CXR001	Coxoauricular Syndrome	17
511		BRC094	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	17
512		MLT148	Multiple Pterygium Syndrome, X-Linked	17
513		CRN192	Craniorhiny	17
514	c	CTR128	Cataract 33	17
515		MCD004	Macdermot-Winter Syndrome	17
516		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	17
517		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	17
518	c	UNP011	Uniparental Disomy of Chromosome 14	17
519		BLP011	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	17
520		ESS005	Essential Iris Atrophy	16
521		PLY133	Polysyndactyly with Cardiac Malformation	16
522		CNT104	Contractures, Congenital, Torticollis, and Malignant Hyperthermia	16
523		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	16
524		TRN017	Transient Neonatal Neutropenia	16
525		1Q4001	1q44 Microdeletion Syndrome	16
526		DST045	Distal Trisomy 6p	16
527		16P004	16p13.11 Microduplication Syndrome	16
528	c	CNG596	Congenital Ectropion	16
529	c	BRC035	Brachydactyly Type A5	16
530		FCL064	Facial Dysmorphism with Multiple Malformations	16
531		WHT005	White Forelock with Malformations	16
532		CRN308	Coronary Arterial Fistula	16
533	c	CNT108	Central Polydactyly	16
534		CLB008	Coloboma of Eye Lens	16
535	c	CHR180	Chromosome 10, Uniparental Disomy	16
536		CTN032	Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia	16
537		ISL134	Isolated Craniosynostosis	16
538		19P001	19p13.12 Microdeletion Syndrome	16
539		RDL029	Radial Ray Hypoplasia with Choanal Atresia	16
540	c	GLC052	Glaucoma 3, Primary Congenital, C	16
541	c	OCY004	Oocyte Maturation Defect 3	16
542		CLF047	Cleft-Limb-Heart Malformation Syndrome	16
543	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	16
544		MDL016	Midline Cervical Cleft	16
545		7P2001	7p22.1 Microduplication Syndrome	16
546	c	PST093	Posterior Hypospadias	16
547		XLN232	X-Linked Alport Syndrome-Diffuse Leiomyomatosis	16
548		PLY088	Polyvalvular Heart Disease Syndrome	16
549	c	AML053	Amelia, Autosomal Recessive	15
550	c	HYD067	Hydatidiform Mole, Recurrent, 3	15
551		THY105	Thyrocerebroretinal Syndrome	15
552		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	15
553		SPN120	Spondylocamptodactyly	15
554		DLT013	Deletion 5q35	15
555		CMP016	Camptobrachydactyly	15
556	c	UNP008	Uniparental Disomy of Chromosome 15	15
557		SBM006	Submucosal Cleft Palate	15
558		PFF010	Pfeiffer-Palm-Teller Syndrome	15
559		CNG330	Congenital Megacalycosis	15
560		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	15
561		DST082	Distal Trisomy 10q	15
562		HYP689	Hypomelia with Mullerian Duct Anomalies	15
563	P	ZYG003	Zygodactyly 1	15
564	c	SPN122	Spondylocostal Dysostosis 2	15
565		CRD014	Cardiac Diverticulum	15
566		ACR078	Acral Self-Healing Collodion Baby	15
567		TRN046	Transverse Vaginal Septum	15
568		CYS047	Cystic Fibrosis, Modifier of, 1	15
569	c	PRD028	Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15	15
570		PHK006	Phakomatosis Pigmentokeratotica	15
571		ALB022	Albinism-Microcephaly-Digital Anomalies Syndrome	15
572		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	15
573		CRY029	Cryptomicrotia-Brachydactyly Syndrome	15
574		INF059	Infundibulopelvic Dysgenesis	15
575		PSD091	Pseudounicornuate Uterus	15
576	c	FCL050	Facial Paresis, Hereditary Congenital, 2	15
577		ATR018	Atrial Septal Defect Ostium Primum	14
578	c	ACQ026	Acquired Pseudoxanthoma Elasticum	14
579		PRN057	Porencephaly, Cerebellar Hypoplasia, and Internal Malformations	14
580		HMN034	Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe	14
581		MSC080	Mosaic Trisomy 12	14
582		ANR045	Aneurysm of Interventricular Septum	14
583		WHB001	Wahab Syndrome	14
584	c	MTR062	Maternal Uniparental Disomy of Chromosome 4	14
585		LNG081	Longitudinal Vaginal Septum	14
586		THM021	Thumb Deformity and Alopecia	14
587	P	ISL029	Isolated Anorectal Malformation	14
588		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	14
589	c	MTR063	Maternal Uniparental Disomy of Chromosome 2	14
590		HYP727	Hypoglossia with Situs Inversus	14
591		14Q001	14q12 Microdeletion Syndrome	14
592	c	UNP007	Uniparental Disomy of Chromosome 6	14
593		MSC078	Mosaic Trisomy 17	14
594		DSP003	Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	14
595		URC012	Urachal Sinus	14
596		DST035	Distal Trisomy 18q	14
597		URC013	Urachal Diverticulum	13
598		IDP017	Idiopathic Dilatation of the Pulmonary Artery	13
599		PRT184	Partial Deletion of the Long Arm of Chromosome 11	13
600		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	13
601	P	ANT062	Anterior Urethral Valve	13
602		3P2001	3p25.3 Microdeletion Syndrome	13
603		NND006	Non-Distal Monosomy 20q	13
604		BLT009	Bilateral Generalized Polymicrogyria	13
605	c	UNP003	Uniparental Disomy of Chromosome 11	13
606		HLL014	Hallux Varus and Preaxial Polysyndactyly	13
607		ART097	Aorto-Left Ventricular Tunnel	13
608		PST104	Postaxial Oligodactyly, Tetramelic	13
609		ULN014	Ulnar Hemimelia	13
610		ISL128	Isolated Microspherophakia	13
611		1P2001	1p21.3 Microdeletion Syndrome	13
612	c	SCL053	Sclerocornea, Autosomal Dominant	12
613		CRN204	Craniofacial Conodysplasia	12
614		NSL021	Nasal Encephalocele	12
615		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	12
616		CNS012	Cono-Spondylar Dysplasia	12
617		PRT213	Partial Duplication of Chromosome 19	12
618		ACH028	Acheiria	12
619		ANN015	Anonychia with Flexural Pigmentation	12
620		MND008	Mandibular Arteriovenous Malformation	12
621	c	PRM168	Primary Syringomyelia	12
622		ACR121	Acromelic Dysplasia	12
623		6P2001	6p22 Microdeletion Syndrome	12
624		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	12
625	c	CNG433	Congenital Cornea Plana	12
626		ANN018	Anonychia, Total, with Microcephaly	12
627		CNG423	Congenital Valvular Dysplasia	12
628		CMP070	Complete Atrioventricular Canal-Left Heart Obstruction Syndrome	12
629		HYP852	Hypocalcemic Rickets	12
630		PRP103	Peripapillary Staphyloma	12
631		MCR358	Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	12
632	c	MTR060	Maternal Uniparental Disomy of Chromosome 9	12
633	c	SPN123	Spondylocostal Dysostosis 3	12
634	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	12
635	c	ATS448	Autosomal Recessive Brachyolmia	11
636		PRT161	Partial Deletion of the Short Arm of Chromosome 3	11
637		MGC005	Megacystis-Megaureter Syndrome	11
638		MCR295	Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	11
639		CNG282	Congenital Knee Dislocation	11
640		TRC112	Trochlea of the Humerus, Aplasia of	11
641		ANM075	Anomalous Aortic Origin of Coronary Artery	11
642		TNN014	Tunnel Subaortic Stenosis	11
643		ANM076	Anomalous Aortic Origin of the Right Coronary Artery	11
644		16P005	16p11.2p12.2 Microduplication Syndrome	11
645	c	SLV022	Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	11
646		XLN133	X-Linked Intellectual Disability, Shashi Type	11
647		MSC090	Mosaic Trisomy 3	11
648		5Q3001	5q35 Microduplication Syndrome	11
649	c	UNP004	Uniparental Disomy of Chromosome 2	11
650		CLF019	Cleft Palate Short Stature Vertebral Anomalies	11
651		GZR001	Guizar Vasquez Sanchez Manzano Syndrome	11
652		ONY006	Onychodystrophy-Anonychia	11
653		SPN435	Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia	11
654	P	CNG326	Congenital Primary Megaureter	11
655		MSC084	Mosaic Genome-Wide Paternal Uniparental Disomy	11
656	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	11
657		GNN001	Genuine Diffuse Phlebectasia	11
658	c	CTR025	Cataract, Total Congenital	11
659		HRR003	Herrmann Opitz Craniosynostosis	11
660		PRT206	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9	11
661		SX2003	Six2-Related Frontonasal Dysplasia	11
662		PRT185	Partial Deletion of the Long Arm of Chromosome 13	11
663		PRT163	Partial Deletion of the Short Arm of Chromosome 5	11
664		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	11
665		SYM015	Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers	11
666		20Q001	20q13.33 Microdeletion Syndrome	11
667		MDR001	Medeira-Dennis-Donnai Syndrome	11
668		MSC087	Mosaic Trisomy 4	11
669		CNG279	Congenital Pseudoarthrosis of the Ulna	10
670		9Q2003	9q21.13 Microdeletion Syndrome	10
671		ABN012	Abnormal Origin of Right or Left Pulmonary Artery from the Aorta	10
672		CNG575	Congenital Joint Dislocations	10
673		CNG244	Congenital Laryngeal Cyst	10
674	c	GLC032	Glaucoma, Hereditary	10
675		PRT169	Partial Deletion of the Short Arm of Chromosome 11	10
676		ART130	Arthrogryposis with Hyperkeratosis	10
677	c	ZYG005	Zygodactyly Type 4	10
678	c	SPN121	Spondylocostal Dysostosis 1	10
679		LWR014	Lower Limb Hypertrophy	10
680		APD003	Apodia	10
681		DYS208	Dysostosis with Brachydactyly	10
682		PRM302	Paramedian Facial Cleft	10
683	c	MTR057	Maternal Uniparental Disomy of Chromosome X	10
684	c	CHR232	Chromosome 21, Uniparental Disomy	10
685		LWR017	Lower Limb Malformation-Hypospadias Syndrome	10
686		PRT200	Partial Duplication of the Long Arm of Chromosome 2	10
687		CRD171	Cordiform Uterus	10
688	c	PRD025	Prader-Willi Syndrome Due to Imprinting Mutation	10
689		PRT164	Partial Deletion of the Short Arm of Chromosome 8	10
690		XSM001	X Small Rings	10
691		PRT167	Partial Deletion of the Short Arm of Chromosome 9	10
692		XQ1001	Xq12-Q13.3 Duplication Syndrome	10
693		XLN149	X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis	10
694		PRT153	Partial Deletion of Chromosome 11	10
695		ART098	Aorto-Right Ventricular Tunnel	10
696	c	CHR201	Chromosome 16, Uniparental Disomy	10
697		CNG272	Congenital Achiasma	10
698	c	ZYG006	Zygodactyly Type 2	9
699		PRT187	Partial Duplication of Chromosome X	9
700		ISL047	Isolated Unilateral Hemispheric Cerebellar Hypoplasia	9
701		DGS007	Digestive Duplication	9
702		DST081	Distal Trisomy 11q	9
703		2P2002	2p21 Microdeletion Syndrome Without Cystinuria	9
704	c	MTR064	Maternal Uniparental Disomy of Chromosome 22	9
705		HLP030	Holoprosencephaly-Caudal Dysgenesis Syndrome	9
706		ERL041	Early-Onset Zonular Cataract	9
707	c	ATS065	Autosomal Dominant Coarctation of Aorta	9
708		PRT145	Partial Deletion of Chromosome 3	9
709	c	SPN124	Spondylocostal Dysostosis 4	9
710	c	UNP010	Uniparental Disomy of Chromosome 13	9
711		BLK004	Blake Pouch Cyst	9
712		CNG327	Congenital Epstein-Barr Virus Infection	9
713		MLT171	Multiple Epiphyseal Dysplasia and Pseudoachondroplasia	9
714		XLN142	X-Linked Intellectual Disability, Stevenson Type	9
715		PRT154	Partial Deletion of Chromosome 18	9
716		PRT236	Partial Deletion of the Long Arm of Chromosome 15	9
717		PRT179	Partial Deletion of the Long Arm of Chromosome 6	9
718		MLH001	Melhem Fahl Syndrome	9
719		PRT228	Partial Duplication of Chromosome 1	9
720	c	ACQ029	Acquired Porencephaly	9
721		PRT231	Partial Duplication of Chromosome 4	9
722	c	PRT205	Partial Trisomy of the Long Arm of Chromosome 5	9
723		AML037	Amelia of Upper Limb	9
724	c	SLV019	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7	8
725	c	UNP009	Uniparental Disomy of Chromosome 20	8
726		DGS009	Digestive Tract Malformation	8
727		PRT166	Partial Deletion of the Short Arm of Chromosome 10	8
728		SYN027	Syngnathia Cleft Palate	8
729		PRT208	Partial Duplication of the Short Arm of Chromosome 8	8
730		PRT239	Partial Deletion of the Long Arm of Chromosome 18	8
731		BPR001	Bipartite Talus	8
732		HMR031	Humeral Agenesis/hypoplasia	8
733		CCH007	Cochleovestibular Dysplasia	8
734		DBL018	Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis	8
735	c	PTR015	Paternal Uniparental Disomy of Chromosome X	8
736		MTR084	Maternal Hyperthermia-Induced Birth Defects	8
737		PRT225	Partial Duplication of Chromosome 17	8
738	c	KRN003	Kernicterus Due to Isoimmunization	8
739		MCR294	Macrocephaly-Short Stature-Paraplegia Syndrome	8
740	c	PRT182	Partial Monosomy of the Long Arm of Chromosome 9	8
741		PRT238	Partial Deletion of the Long Arm of Chromosome 17	8
742		ISL049	Isolated Dandy-Walker Malformation Without Hydrocephalus	8
743		SVR046	Severe Lateral Tibial Bowing with Short Stature	8
744		CNG318	Congenital Genu Recurvatum	8
745		DNT049	Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	8
746		OMP003	Omphalomesenteric Cyst	8
747	c	OCY008	Oocyte Maturation Defect 7	8
748		PRT226	Partial Duplication of Chromosome 16	8
749		MYP110	Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome	7
750		PRT197	Partial Duplication of the Long Arm of Chromosome 15	7
751		PRT203	Partial Duplication of the Long Arm of Chromosome 7	7
752		CNG517	Congenital Agenesis of the Scrotum	7
753		NNS055	Non-Syndromic Preaxial Polydactyly	7
754		DST084	Distal Trisomy 8q	7
755		PRT235	Partial Deletion of the Long Arm of Chromosome 14	7
756	P	ATS109	Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	7
757		LCR016	Lacrimal Drainage System Anomaly	7
758		ARC019	Arachnodactyly - Intellectual Disability - Dysmorphism	7
759		BNL004	Benallegue Lacete Syndrome	7
760		UNC003	Unicervical Bicornuate Uterus	7
761		MCR285	Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	7
762		CHN051	Choanal Atresia, Unilateral	7
763		PRT146	Partial Deletion of Chromosome 8	7
764		PRT149	Partial Deletion of Chromosome 7	7
765		PRT217	Partial Duplication of the Short Arm of Chromosome 4	7
766		PRT223	Partial Duplication of Chromosome 11	7
767		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	7
768		MCR184	Macrodactyly of Fingers	7
769		CNG289	Congenital Absence/hypoplasia of Thumb	7
770		RDL020	Radio-Ulnar Synostosis, Bilateral	7
771		PRT109	Partially Involuting Congenital Hemangioma	7
772	c	PRD042	Prader-Willi-Like Syndrome Due to a Point Mutation	7
773		CNG334	Congenital Esophageal Diverticulum	7
774	c	PTR023	Paternal Uniparental Disomy of Chromosome 13	7
775		SPN082	Spina Bifida Hypospadias	7
776		PRT216	Partial Trisomy of Chromosome 20	7
777		PRT244	Partial Deletion of the Short Arm of Chromosome 12	7
778		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	7
779		CNG107	Congenital Mitral Malformation	7
780		MLF005	Malformation Syndrome with Short Stature	7
781	P	TSS001	Tessier Number 5 Facial Cleft	7
782		PRT143	Partial Deletion of Chromosome 5	7
783		21Q001	21q22.11q22.12 Microdeletion Syndrome	7
784	c	MTR065	Maternal Uniparental Disomy of Chromosome 21	7
785		ECS003	Eec Syndrome and Related Disorders	7
786	P	ISC012	Isochromosome Y	7
787		MLT170	Multiple Congenital Anomalies/dysmorphic Syndrome	6
788		PRT150	Partial Deletion of the Long Arm of Chromosome 12	6
789		PRT175	Partial Deletion of the Long Arm of Chromosome 2	6
790		1P3003	1p35.2 Microdeletion Syndrome	6
791		URG006	Urogenital Tract Malformation	6
792		ECT057	Ectasia of the Right Atrial Appendage	6
793		HYP850	Hypoglossia/aglossia	6
794		14Q003	14q11.2 Microduplication Syndrome	6
795		PRT229	Partial Duplication of Chromosome 2	6
796	c	LRY048	Laryngotracheoesophageal Cleft Type 0	6
797		PHK010	Phakomatosis Spilorosea	6
798		DST088	Distal Trisomy 1p36	6
799		SYN126	Syndromic Microspherophakia	6
800	c	HYD017	Hydrocephalus Autosomal Recessive	6
801	c	CHR179	Chromosome 1, Uniparental Disomy 1q12 Q21	6
802		CRN073	Coronary Arteries Congenital Malformation	6
803		PRT139	Partial Bilateral Aplasia of the Mullerian Ducts	6
804	c	PRD024	Prader-Willi Syndrome Due to Translocation	6
805		PRT141	Partial Deletion of Chromosome 1	6
806		PRT158	Partial Deletion of the Short Arm of Chromosome 2	6
807		PRT172	Partial Deletion of the Short Arm of Chromosome 19	6
808		PRT176	Partial Deletion of the Long Arm of Chromosome 3	6
809		PRT189	Partial Duplication of the Long Arm of Chromosome 19	6
810		PRT192	Partial Duplication of the Long Arm of Chromosome 22	6
811		PRT209	Partial Duplication of the Short Arm of Chromosome 17	6
812		16Q002	16q24.1 Microdeletion Syndrome	6
813		UPP009	Upper Limb Hypertrophy	6
814		AML036	Amelia of Lower Limb	6
815		14Q005	14q24.1q24.3 Microdeletion Syndrome	6
816		9Q3001	9q31.1q31.3 Microdeletion Syndrome	6
817		DBL016	Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy	6
818		DST077	Distal Trisomy 22q	6
819	c	SCN083	Secondary Early-Onset Glaucoma	5
820	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	5
821		ISL044	Isolated Arhinencephaly	5
822		MLF009	Malformation of the Cerebellar Vermis	5
823		PLM157	Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome	5
824		3Q2005	3q26q27 Microdeletion Syndrome	5
825		SYN096	Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication	5
826		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	5
827		PRT249	Partial Autosomal Monosomy	5
828	c	PTR020	Paternal Uniparental Disomy of Chromosome 20	5
829		DST067	Distal Monosomy 14q	5
830		CNG438	Congenital Disorder of Glycosylation with Developmental Anomaly	5
831		AGN009	Agenesis and Aplasia of Uterine Body	5
832		FCL034	Facial Dermoid Cyst	5
833		PRT168	Partial Deletion of the Short Arm of Chromosome 16	5
834		PRT195	Partial Duplication of the Long Arm of Chromosome 8	5
835		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	5
836		JNT005	Joint Formation Defects	5
837		SYN118	Syndrome with Limb Reduction Defects	5
838		HMR036	Humero-Ulnar Synostosis, Unilateral	5
839		HMR037	Humero-Ulnar Synostosis, Bilateral	5
840		SPR139	Superior Celosomia	5
841		DBL013	Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect	5
842		CNG537	Congenital Anomaly of the Tricuspid Valve Chordae	5
843	c	PRM303	Primary Early-Onset Glaucoma	5
844		ISL079	Isolated Encephalocele	5
845		NNT001	Neonatal Infective Mastitis	5
846	c	LSS019	Lissencephaly with Cerebellar Hypoplasia Type E	5
847	c	LSS020	Lissencephaly with Cerebellar Hypoplasia Type B	5
848	c	CHR251	Chromosome 5, Uniparental Disomy	5
849		CLS021	Closed Iniencephaly	5
850		LWM001	Low Implantation of Placenta	4
851		NNS046	Non-Syndromic Urogenital Tract Malformation	4
852		PRT142	Partial Deletion of Chromosome 4	4
853		PRT157	Partial Deletion of Chromosome 19	4
854		MCR280	Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	4
855		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	4
856	c	46X074	46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect	4
857	c	PTR022	Paternal Uniparental Disomy of Chromosome 7	4
858		NND007	Non-Distal Monosomy 12q	4
859		NND009	Non-Distal Trisomy 9q	4
860	c	CNG593	Congenital Mitral Valve Insufficiency and/or Stenosis	4
861		SPN233	Spondyloepimetaphyseal Dysplasia, Bieganski Type	4
862		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	4
863		NSL027	Nasal Dorsum Fistula	4
864	c	PRT188	Partial Trisomy of the Long Arm of Chromosome 20	4
865		PRT212	Partial Duplication of the Short Arm of Chromosome 16	4
866		PRT220	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5	4
867		ISL046	Isolated Bilateral Hemispheric Cerebellar Hypoplasia	4
868		ISL051	Isolated Partial Cerebellar Vermis Agenesis	4
869	c	ISL052	Isolated Total Cerebellar Vermis Agenesis	4
870		ABN008	Abnormal Origin of the Pulmonary Artery	4
871		BCK010	Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion	4
872		CNG268	Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form	4
873		CNG269	Congenital Primary Megaureter, Refluxing Form	4
874		CNG270	Congenital Primary Megaureter, Obstructed Form	4
875	c	PRM147	Primary Megaureter, Adult-Onset Form	4
876		46X066	46,xy Disorder of Sex Development of Endocrine Origin	4
877		CNG569	Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature	4
878		INT227	Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	4
879		20Q002	20q11.2 Microduplication Syndrome	4
880		MDL018	Madelung Deformity, Unilateral	4
881		16P011	16p12.1p12.3 Triplication Syndrome	4
882		CNG331	Congenital Bilateral Megacalycosis	4
883		XLN147	X-Linked Intellectual Disability, Stoll Type	4
884		ATR095	Atrial Appendage Anomaly	4
885		DYS209	Dysostosis with Predominant Vertebral and Costal Involvement	4
886		XLN157	X-Linked Intellectual Disability, Porteous Type	4
887		ABN010	Abnormal Number of Coronary Ostia	4
888		PRS139	Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium	4
889		MLF008	Malformation of the Cerebellar Hemispheres	4
890		SBC038	Sub-Cortical Nodular Heterotopia	4
891		CNG606	Congenital Aortic Valve Dysplasia	4
892	c	CTR008	Cataract Congenital Autosomal Dominant	4
893		MDN006	Median Cleft of the Upper Lip and Maxilla	4
894		PRT156	Partial Deletion of Chromosome 20	4
895		PRT233	Partial Duplication of Chromosome 6	4
896		SGM005	Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia	4
897		HMZ005	Homozygous 2p21 Microdeletion Syndrome	4
898		CNG316	Congenital Vertical Talus, Bilateral	4
899		MYB004	Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	4
900		46X078	46,xx Disorder of Sex Development Induced by Androgens Excess	4
901	c	PTR021	Paternal Uniparental Disomy of Chromosome 21	4
902		SYN156	Syndrome with Limb Malformations As a Major Feature	4
903		SYN162	Syndromic Esophageal Malformation	4
904	c	INT350	Intermediate Isolated Anorectal Malformation	3
905		FRN038	Frontonasal Arteriovenous Malformation	3
906		SYN111	Syndrome with a Cerebellar Malformation As Major Feature	3
907		46X064	46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors	3
908		INT248	Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	3
909		INT305	Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	3
910		SPR109	Supratip Dysplasia	3
911		DYS207	Dysostosis with Brachydactyly Without Extraskeletal Manifestations	3
912		NNS056	Non-Syndromic Complex Polydactyly	3
913		STR075	Straddling or Overriding Tricuspid Valve	3
914		BCK016	Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication	3
915		DYS210	Dysostosis with Predominant Craniofacial Involvement	3
916		SYN142	Syndrome with Synostosis or Other Joint Formation Defect	3
917		NNS060	Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy	3
918		CNG349	Congenital Patent Ductus Arteriosus Aneurysm	3
919		PLM119	Pulmonary Artery Coming from Patent Ductus Arteriosus	3
920		CNG361	Congenital Supravalvular Mitral Ring	3
921		MTR068	Mitral Valve Agenesis	3
922		LNS007	Lens Shape Anomaly	3
923		ANM025	Anomaly of the Mitral Subvalvular Apparatus	3
924	c	GLC029	Glaucoma Type 1c	3
925	c	GLC033	Glaucoma, Hereditary Adult Type 1a	3
926	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	3
927	c	GLC035	Glaucoma, Primary Infantile Type 3a	3
928		NNS051	Non-Syndromic Urogenital Tract Malformation of Male	3
929		PRR036	Pierre Robin Syndrome Associated with Collagen Disease	3
930		PRR037	Pierre Robin Syndrome Associated with a Chromosomal Anomaly	3
931		TRT023	Teratogenic Pierre Robin Syndrome	3
932	P	YCH005	Y Chromosome Number Anomaly	3
933		PRT232	Partial Trisomy/tetrasomy of Chromosome 5	3
934		EPB005	Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome	3
935		CNG317	Congenital Genu Flexum	3
936		CNG321	Congenital Elbow Dislocation, Bilateral	3
937		DPH029	Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome	3
938	c	TTL013	Total Autosomal Trisomy	3
939		ATS455	Autosomal Uniparental Disomy	3
940		SXC005	Sex-Chromosome Number Anomaly	3
941		SXC006	Sex-Chromosome Structural Anomaly	3
942		SYN159	Syndromic Diaphragmatic or Abdominal Wall Malformation	3
943		MLF003	Malformative Syndrome with Dentinogenesis Imperfecta	3
944		NNS049	Non-Syndromic Uterovaginal Malformation	3
945	c	46X067	46,xx Disorder of Gonadal Development	3
946		NNS052	Non-Syndromic Urogenital Tract Malformation of Male and Female	2
947		XCH003	X Chromosome Number Anomaly with Female Phenotype	2
948		NNS065	Non-Syndromic Diaphragmatic or Abdominal Wall Malformation	2
949		NNS066	Non-Syndromic Visceral Malformation	2
950		NNS069	Non-Syndromic Esophageal Malformation	2
951		EMB004	Embryonal Carcinoma	57
952	c	WLM018	Wilms Tumor 5	63
953	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	45
954		EMB006	Embryonal Testis Carcinoma	35
955	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	28
956	P	CNT003	Central Nervous System Embryonal Carcinoma	10
957		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	22
958		INT041	Intratubular Embryonal Carcinoma	26
959		DFN191	Deafness, Congenital Heart Defects, and Posterior Embryotoxon	20
960	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	15
961	c	WLM013	Wilms Tumor 1	69
962	c	WLM011	Wilms Tumor 6	38
963		EMB015	Embryonal Tumor with Multilayered Rosettes	29
964	c	WLM005	Wilms Tumor 2	27
965	P	HRD009	Hereditary Wilms' Tumor	26
966	c	WLM015	Wilms Tumor 3	18
967	c	WLM017	Wilms Tumor 4	18
968	c	FML094	Familial Wilms Tumor 2	9
969		EMB001	Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma	6
970		TRT001	Teratocarcinoma	44
971	P	END039	Endodermal Sinus Tumor	44
972	c	ADL047	Adult Endodermal Sinus Tumor	9
973	P	LFT003	Left Ventricular Noncompaction	55
974		FTL012	Fetal and Neonatal Alloimmune Thrombocytopenia	43
975	c	PRS122	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	38
976	c	LFT021	Left Ventricular Noncompaction 1	35
977	P	BTR001	Botryoid Rhabdomyosarcoma	33
978	c	LFT017	Left Ventricular Noncompaction 8	28
979	c	LFT018	Left Ventricular Noncompaction 10	25
980	c	LFT020	Left Ventricular Noncompaction 7	21
981	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	18
982	c	LFT011	Left Ventricular Noncompaction 2	17
983	c	ADL031	Adult Botryoid Rhabdomyosarcoma	7
984	c	HYD046	Hydatidiform Mole, Recurrent, 1	62
985	P	PTN014	Patent Ductus Arteriosus 1	60
986		GRM005	Germ Cell Cancer	47
987		EMB007	Embryonal Sarcoma	42
988		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	21
989		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	20
990		WLL022	Well-Differentiated Fetal Adenocarcinoma of the Lung	16
991	P	FTL014	Fetal Brain Disruption Sequence	11
992	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	11
993		HYD069	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism	10
994		CHL030	Childhood Botryoid Rhabdomyosarcoma	8
995		CHL031	Childhood Vagina Botryoid Rhabdomyosarcoma	7
996		FTL017	Fetal Enterovirus Syndrome	2
997	P	OST002	Osteoporosis	79
998		APR006	Apert Syndrome	70
999	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	68
1000		SMT004	Smith-Lemli-Opitz Syndrome	67
1001	P	HLP001	Holoprosencephaly	67
1002	c	MCL062	Mucolipidosis Ii Alpha/beta	67
1003		STH001	Saethre-Chotzen Syndrome	66
1004	P	BRD002	Bardet-Biedl Syndrome	66
1005	P	ANG001	Angelman Syndrome	65
1006	P	MCK013	Meckel Syndrome, Type 1	64
1007	P	ART005	Arteriovenous Malformation	63
1008		ART002	Arts Syndrome	63
1009	P	CNG001	Congenital Myasthenic Syndrome	63
1010	P	HYP055	Hypoplastic Left Heart Syndrome	63
1011		HLT001	Holt-Oram Syndrome	62
1012	c	BRD010	Bardet-Biedl Syndrome 1	61
1013	P	RNL100	Renal Hypodysplasia/aplasia 1	61
1014	c	MCL013	Mucolipidosis Iv	60
1015	P	MLG056	Malignant Hyperthermia	60
1016		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	60
1017	P	ERL057	Early Infantile Epileptic Encephalopathy	60
1018	P	INT070	Intestinal Obstruction	60
1019	c	CLR131	Ciliary Dyskinesia, Primary, 1	59
1020		ANG020	Angiosarcoma	59
1021	P	MCR256	Microphthalmia, Syndromic 9	59
1022	P	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	59
1023		CHR101	Char Syndrome	58
1024	P	MTC069	Mitochondrial Disorders	57
1025		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	57
1026		BRN056	Bronchopulmonary Dysplasia	57
1027	P	BTH005	Bethlem Myopathy 1	56
1028	c	HYP293	Hypophosphatasia, Adult	56
1029	c	BRD014	Bardet-Biedl Syndrome 2	56
1030	c	INT072	Intestinal Pseudo-Obstruction	55
1031		GRN034	Grange Syndrome	55
1032	c	CNG216	Congenital Hydrocephalus	55
1033		DBL002	Double Outlet Right Ventricle	55
1034		OCL020	Ocular Cicatricial Pemphigoid	55
1035	c	FRS014	Fraser Syndrome 1	55
1036	c	AML044	Amelogenesis Imperfecta, Type Ig	55
1037		CLF004	Cleft Lip/palate	55
1038		OST024	Osteoporosis-Pseudoglioma Syndrome	55
1039	P	ATR001	Atrioventricular Septal Defect	55
1040	P	PSD015	Pseudohypoparathyroidism	54
1041	P	JNC001	Junctional Epidermolysis Bullosa	54
1042	P	PTS002	Ptosis	53
1043		EBS001	Ebstein Anomaly	53
1044	P	PRS049	Persistent Mullerian Duct Syndrome	53
1045	c	OST164	Osteoporosis, Juvenile	53
1046	P	MRG008	Meier-Gorlin Syndrome 1	53
1047	P	VSC013	Visceral Heterotaxy	53
1048		SPR004	Supravalvular Aortic Stenosis	52
1049		ACR058	Acrofacial Dysostosis 1, Nager Type	52
1050		GST009	Gastroschisis	52
1051		ACR011	Acromesomelic Dysplasia, Maroteaux Type	52
1052		DXT001	Dextrocardia	52
1053	P	TRT010	Teratoma	52
1054	P	BNM029	Bone Mineral Density Quantitative Trait Locus 15	51
1055		PLC008	Placenta Disease	51
1056		RNL078	Renal Dysplasia	51
1057		OCC006	Occipital Horn Syndrome	51
1058		JCK001	Jackson-Weiss Syndrome	51
1059	P	NML001	Nemaline Myopathy	51
1060	c	ACH041	Achondrogenesis, Type Ii	51
1061		VTR016	Vater/vacterl Association	51
1062		DYG001	Dyggve-Melchior-Clausen Disease	51
1063	c	EPD076	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	51
1064	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	50
1065	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	50
1066		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	50
1067	c	SPN330	Spondylocostal Dysostosis 5	49
1068		MYP136	Myopathy, Centronuclear, X-Linked	49
1069	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	49
1070	P	CNG499	Congenital Anomalies of Kidney and Urinary Tract 2	49
1071		PYL017	Pyle Disease	48
1072		NRL002	Neurilemmomatosis	48
1073	c	BRD016	Bardet-Biedl Syndrome 4	48
1074	c	NML003	Nemaline Myopathy 2	48
1075	c	NML002	Nemaline Myopathy 1	48
1076	P	AML002	Amelogenesis Imperfecta	48
1077		PRP066	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	48
1078		HYR002	Hoyeraal Hreidarsson Syndrome	48
1079	c	ACH033	Achondrogenesis, Type Ia	48
1080		TTR011	Tetraploidy	47
1081	P	KRN004	Kernicterus	47
1082	P	CNG003	Congenital Dyserythropoietic Anemia	47
1083	c	ART061	Arthrogryposis, Distal, Type 2a	47
1084	P	GND004	Gonadal Dysgenesis	47
1085	c	RBN022	Robinow Syndrome, Autosomal Recessive 1	47
1086	P	CRN074	Coronary Artery Aneurysm	47
1087	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	47
1088		MCR103	Microtia	47
1089		YLL001	Yellow Nail Syndrome	47
1090	c	MCK032	Meckel Syndrome, Type 3	47
1091		CRD002	Cri-Du-Chat Syndrome	46
1092	c	LKD010	Leukodystrophy, Hypomyelinating, 2	46
1093	P	MCL001	Mucolipidosis	46
1094	P	HYP776	Hyperparathyroidism, Neonatal Severe	46
1095	P	CPL014	Capillary Malformation-Arteriovenous Malformation 1	46
1096	c	LKD019	Leukodystrophy, Hypomyelinating, 6	46
1097		NVS001	Neovascular Glaucoma	46
1098	c	MLG081	Malignant Teratoma	46
1099		SPN405	Spondyloepiphyseal Dysplasia Tarda, X-Linked	46
1100	c	BRD013	Bardet-Biedl Syndrome 12	46
1101		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	45
1102	P	PRD037	Periodontal Ehlers-Danlos Syndrome	45
1103	P	JVN008	Juvenile Glaucoma	45
1104	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	45
1105		MLT145	Multiple Enchondromatosis, Maffucci Type	45
1106		VSD002	Vas Deferens, Congenital Bilateral Aplasia of	45
1107		BHR002	Bohring-Opitz Syndrome	45
1108	c	BRD044	Bardet-Biedl Syndrome 17	45
1109	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	45
1110		LRY022	Laryngoonychocutaneous Syndrome	45
1111	c	TRC092	Trichorhinophalangeal Syndrome, Type I	45
1112	c	BRD018	Bardet-Biedl Syndrome 6	45
1113	c	46X001	46 Xy Gonadal Dysgenesis	45
1114	P	CRN013	Craniodiaphyseal Dysplasia	45
1115	c	CTR098	Cataract 1, Multiple Types	45
1116	c	BRD015	Bardet-Biedl Syndrome 3	45
1117	c	BRD020	Bardet-Biedl Syndrome 8	45
1118		HND004	Hand-Foot-Genital Syndrome	44
1119		STV003	Stuve-Wiedemann Syndrome	44
1120	P	ACH011	Achondrogenesis	44
1121		ASP004	Asphyxia Neonatorum	44
1122	c	HLP023	Holoprosencephaly 1	44
1123	P	SYN075	Syngnathia	44
1124	P	BRN006	Branchiootorenal Syndrome	44
1125	c	BRD033	Bardet-Biedl Syndrome 13	44
1126	c	NML004	Nemaline Myopathy 3	44
1127	c	HYP793	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	44
1128		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	44
1129	c	ACH042	Achondrogenesis, Type Ib	44
1130		SHR044	Short Rib-Polydactyly Syndrome	44
1131	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	44
1132	c	BRC052	Brachydactyly, Type B2	44
1133	P	ECT005	Ectropion	44
1134	c	HLP026	Holoprosencephaly 3	43
1135	c	LKD015	Leukodystrophy, Hypomyelinating, 3	43
1136	c	USH035	Usher Syndrome Type 2	43
1137	c	BRD012	Bardet-Biedl Syndrome 11	43
1138	c	RNL122	Renal Hypodysplasia/aplasia 3	43
1139	c	MCK012	Meckel Syndrome, Type 6	43
1140	c	MLG147	Malignant Hyperthermia 1	43
1141	P	CRB154	Cerebrocostomandibular Syndrome	43
1142	c	BNM022	Bone Mineral Density Quantitative Trait Locus 8	43
1143	c	46X002	46 Xx Gonadal Dysgenesis	43
1144	c	BRD011	Bardet-Biedl Syndrome 10	43
1145		OVR112	Ovarian Germ Cell Cancer	43
1146	c	HLP024	Holoprosencephaly 2	42
1147		WYR002	Weyers Acrofacial Dysostosis	42
1148	c	HLP029	Holoprosencephaly 4	42
1149		MDL009	Medullary Sponge Kidney	42
1150	P	CHR342	Chiari Malformation	42
1151		BMR001	Boomerang Dysplasia	42
1152	P	GLP001	Geleophysic Dysplasia	42
1153		CNG069	Congenital Cytomegalovirus	42
1154	c	LTH007	Lethal Congenital Contracture Syndrome 1	42
1155	c	BRD017	Bardet-Biedl Syndrome 5	42
1156		TRP009	Triple X Syndrome	42
1157		CHR492	Chromosome 13q14 Deletion Syndrome	42
1158	c	BRD032	Bardet-Biedl Syndrome 14	42
1159		BRT059	Bartsocas-Papas Syndrome	41
1160	P	TRC031	Trichorhinophalangeal Syndrome	41
1161		TRP014	Triploidy	41
1162		CHR211	Chromosome 18p Deletion Syndrome	41
1163	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	41
1164	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	41
1165	c	SCP001	Sc Phocomelia Syndrome	41
1166	c	HYP543	Hypoplastic Left Heart Syndrome 1	41
1167	c	CHR579	Chiari Malformation Type Ii	41
1168		ACR043	Acromicric Dysplasia	41
1169		LCR013	Lacrimal Duct Defect	41
1170	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	41
1171	c	MCK031	Meckel Syndrome, Type 2	41
1172	c	LKD009	Leukodystrophy, Hypomyelinating, 5	40
1173	c	MYS078	Myasthenic Syndrome, Congenital, 14	40
1174	c	VNM003	Van Maldergem Syndrome 1	40
1175		SCH037	Schinzel-Giedion Midface Retraction Syndrome	40
1176		CHR659	Chromosome 22q11.2 Duplication Syndrome	40
1177		TRP006	Tarp Syndrome	40
1178	c	BRN131	Branchiootorenal Syndrome 1	40
1179	c	NML005	Nemaline Myopathy 4	40
1180	c	BRD048	Bardet-Biedl Syndrome 18	40
1181		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	39
1182	P	ECT045	Ectodermal Dysplasia-Syndactyly Syndrome 1	39
1183		PLN006	Poland Syndrome	39
1184	P	MCR364	Macrodactyly	39
1185	c	ANT071	Anterior Segment Dysgenesis 4	39
1186	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	39
1187	c	BRD035	Bardet-Biedl Syndrome 15	39
1188	P	OMD003	Omodysplasia	39
1189		GST052	Gestational Choriocarcinoma	39
1190		CHR590	Chromosome 15q11-Q13 Duplication Syndrome	39
1191	c	CNG513	Congenital Ptosis	39
1192	c	MYS075	Myasthenic Syndrome, Congenital, 13	39
1193	c	MYS052	Myasthenic Syndrome, Congenital, 10	39
1194		ACR016	Acromesomelic Dysplasia	39
1195		WHT019	White-Sutton Syndrome	39
1196	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	39
1197		ANM001	Anemia of Prematurity	38
1198		CRY032	Carey-Fineman-Ziter Syndrome	38
1199	c	NML006	Nemaline Myopathy 5	38
1200		CHR386	Chromosome 6pter-P24 Deletion Syndrome	38
1201		ANT057	Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis	38
1202	c	MCK014	Meckel Syndrome, Type 5	38
1203	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	38
1204		OGD001	Ogden Syndrome	38
1205	P	BRC003	Brachyolmia	38
1206		BRT046	Baraitser-Winter Cerebrofrontofacial Syndrome	38
1207		TRC097	Tracheomalacia	38
1208	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	38
1209	c	BRD047	Bardet-Biedl Syndrome 16	37
1210	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	37
1211		LTR009	Lateral Meningocele Syndrome	37
1212		LRN006	Laurin-Sandrow Syndrome	37
1213	P	PRR025	Perrault Syndrome	37
1214	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	37
1215		ART127	Arthrogryposis Multiplex Congenita, Neurogenic Type	37
1216		CRN088	Craniorachischisis	37
1217	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	37
1218	c	BRD019	Bardet-Biedl Syndrome 7	37
1219		ASC009	Ascites, Chylous	37
1220	c	MCK033	Meckel Syndrome, Type 4	36
1221		OST062	Osteoarthritis with Mild Chondrodysplasia	36
1222	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	36
1223		CHN040	Choanal Atresia and Lymphedema	36
1224	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	36
1225	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	36
1226	c	WLL037	Weill-Marchesani Syndrome 2	36
1227		END059	Endocrine-Cerebroosteodysplasia	36
1228	c	NJM002	Nijmegen Breakage Syndrome-Like Disorder	36
1229	c	CHL142	Cholestasis, Intrahepatic, of Pregnancy 3	36
1230	c	ART119	Arthrogryposis, Distal, Type 5	36
1231	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	36
1232		CRD017	Cardiac Valvular Dysplasia, X-Linked	36
1233	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	35
1234	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	35
1235	c	HLP028	Holoprosencephaly 5	35
1236	P	ENT005	Entropion	35
1237	c	PNT043	Pontocerebellar Hypoplasia, Type 4	35
1238		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	35
1239	P	PLM149	Palmoplantar Keratoderma and Congenital Alopecia 2	35
1240		ACR009	Acromesomelic Dysplasia, Hunter-Thompson Type	35
1241		BLR028	Biliary Atresia, Extrahepatic	35
1242	c	AML020	Amelogenesis Imperfecta, Type Iv	35
1243		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	35
1244	c	LKD008	Leukodystrophy, Hypomyelinating, 4	35
1245	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	35
1246		ACR002	Acrocapitofemoral Dysplasia	35
1247		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	35
1248	c	AML061	Amelogenesis Imperfecta, Type Ie	35
1249		PLY036	Polyembryoma	35
1250		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	35
1251		CHR225	Chromosome 1q21.1 Duplication Syndrome	35
1252		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	34
1253		DND005	Dandy-Walker Complex	34
1254	P	MTP005	Metaphyseal Anadysplasia	34
1255		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	34
1256		ISL109	Isolated Cleft Lip	34
1257		ISL062	Isolated Plagiocephaly	34
1258	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	34
1259		OLG021	Oligomeganephronia	34
1260		DYS048	Dysplasia Epiphysealis Hemimelica	34
1261		RFM001	Roifman Syndrome	34
1262		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	34
1263		LMB008	Limb-Mammary Syndrome	34
1264	c	BNM018	Bone Mineral Density Quantitative Trait Locus 3	34
1265		NGL001	Naegeli-Franceschetti-Jadassohn Syndrome	33
1266	c	BRD045	Bardet-Biedl Syndrome 19	33
1267	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	33
1268		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	33
1269	P	CHR084	Chromosomal Disease	33
1270		CYS021	Cystic Adenomatoid Malformation of Lung	33
1271	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	33
1272	c	MCR245	Microphthalmia, Syndromic 8	33
1273	P	ALB023	Albinism, Ocular, with Sensorineural Deafness	33
1274	c	FML084	Familial Porencephaly	33
1275		MCR025	Microhydranencephaly	33
1276	c	KNN009	Kenny-Caffey Syndrome, Type 1	33
1277		SCH030	Schneckenbecken Dysplasia	33
1278	c	MYS076	Myasthenic Syndrome, Congenital, 8	33
1279		SPN154	Spondyloperipheral Dysplasia	33
1280	c	GLP003	Geleophysic Dysplasia 1	33
1281		BRN133	Bronchomalacia	33
1282	c	ALB025	Albinism, Ocular, with Late-Onset Sensorineural Deafness	32
1283	c	MYS067	Myasthenic Syndrome, Congenital, 22	32
1284		OTD001	Otodental Dysplasia	32
1285		ALZ030	Alazami Syndrome	32
1286		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	32
1287	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	32
1288		PRP093	Pierpont Syndrome	32
1289		PHC018	Phace Association	32
1290		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	32
1291	c	MYS056	Myasthenic Syndrome, Congenital, 17	32
1292	c	MCR252	Microphthalmia, Syndromic 5	32
1293	c	AML057	Amelogenesis Imperfecta, Type Iiia	32
1294	c	BRD021	Bardet-Biedl Syndrome 9	32
1295		MSC020	Mosaic Trisomy 8	32
1296	c	BTH006	Bethlem Myopathy 2	32
1297	c	AML017	Amelogenesis Imperfecta, Type Ib	32
1298		GLB024	Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor	32
1299		CHN019	Chand Syndrome	31
1300	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	31
1301		PNC120	Pancreas, Dorsal, Agenesis of	31
1302		CRB208	Cerebral Malformation	31
1303	c	PSD104	Pseudohypoparathyroidism, Type Ii	31
1304		TKN001	Takenouchi-Kosaki Syndrome	31
1305	c	CPL015	Capillary Malformation-Arteriovenous Malformation 2	31
1306	c	RNG029	Ring Chromosome 14 Syndrome	31
1307		CHR582	Chromosome 3q29 Duplication Syndrome	31
1308	c	MCK034	Meckel Syndrome, Type 8	30
1309		DYS045	Dysosteosclerosis	30
1310	P	PLM182	Pulmonary Hypoplasia, Primary	30
1311	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	30
1312		CRT069	Cortical Malformations, Occipital	30
1313		PLM058	Pulmonary Atresia with Intact Ventricular Septum	30
1314		MTR087	Maternal Uniparental Disomy	30
1315		SPN012	Spindle Cell Hemangioma	30
1316	c	ATS076	Autosomal Recessive Stickler Syndrome	30
1317	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	30
1318	c	MYS074	Myasthenic Syndrome, Congenital, 12	30
1319		IVC001	Ivic Syndrome	30
1320	P	HYP700	Hypomyelinating Leukodystrophy	30
1321	c	GLP004	Geleophysic Dysplasia 2	30
1322	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	30
1323	c	BNM030	Bone Mineral Density Quantitative Trait Locus 16	30
1324		AMN014	Aminopterin Syndrome Sine Aminopterin	30
1325	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	30
1326	P	VNM004	Van Maldergem Syndrome	30
1327		ACR017	Acrofacial Dysostosis	30
1328		MLL011	Mullerian Aplasia and Hyperandrogenism	30
1329	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	30
1330		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	29
1331		OCC011	Occipital Encephalocele	29
1332	c	RNG018	Ring Chromosome 22	29
1333		CNS013	Constricting Bands, Congenital	29
1334		DGT009	Digitotalar Dysmorphism	29
1335	c	MLT138	Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	29
1336	c	HLP025	Holoprosencephaly 9	29
1337		HYP364	Hyperostosis Frontalis Interna	29
1338		WRF003	Warfarin Syndrome	29
1339	c	SVR040	Severe Congenital Nemaline Myopathy	29
1340	c	CNG509	Congenital Anomalies of Kidney and Urinary Tract 1	29
1341		JBR007	Joubert Syndrome with Renal Anomalies	29
1342		UVL009	Uvula, Bifid	29
1343	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	29
1344		CLF044	Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly	29
1345	c	PRR020	Perrault Syndrome 1	28
1346	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	28
1347	c	MLG151	Malignant Hyperthermia 5	28
1348		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	28
1349		DSN002	Desanto-Shinawi Syndrome	28
1350	c	MCR329	Microcephaly, Autosomal Dominant	28
1351	c	LSS009	Lissencephaly 3	28
1352		INN003	Iniencephaly	28
1353	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	28
1354	c	RNG005	Ring Chromosome 10	28
1355	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	28
1356	c	BNM015	Bone Mineral Density Quantitative Trait Locus 18	28
1357		DFN039	Deafness-Infertility Syndrome	28
1358		FTL007	Fetal Hydantoin Syndrome	28
1359	c	PNT033	Pontocerebellar Hypoplasia, Type 10	28
1360	c	MCK035	Meckel Syndrome, Type 10	28
1361		CYS041	Cystic Angiomatosis of Bone, Diffuse	28
1362		FRS007	Frias Syndrome	28
1363	c	SYN060	Syndactyly, Type Iii	28
1364	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	28
1365	c	RNG022	Ring Chromosome 6	28
1366		WLD004	Wildervanck Syndrome	28
1367	c	NML007	Nemaline Myopathy 6	28
1368	c	NML022	Nemaline Myopathy 10	28
1369	c	HYP723	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1	28
1370	P	MTR051	Maternal Uniparental Disomy of Chromosome 1	28
1371		FCL047	Facial Clefting, Oblique, 1	28
1372	P	TTH021	Tethered Cord Syndrome	28
1373	c	MCK028	Meckel Syndrome 13	28
1374		NBL001	Nablus Mask-Like Facial Syndrome	27
1375		ISL061	Isolated Brachycephaly	27
1376		LYM122	Lymphangiectasia, Pulmonary, Congenital	27
1377	c	INT274	Intermediate Congenital Nemaline Myopathy	27
1378	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	27
1379	c	HLP027	Holoprosencephaly 7	27
1380		RHM015	Rhombencephalosynapsis	27
1381	c	CLR090	Ciliary Dyskinesia, Primary, 22	27
1382		MSM004	Mesomelia-Synostoses Syndrome	27
1383	c	RNG010	Ring Chromosome 15	27
1384	c	RNG015	Ring Chromosome 2	27
1385	c	LKD020	Leukodystrophy, Hypomyelinating, 10	27
1386	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	27
1387	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	27
1388		CLF049	Cleft Lip and Alveolus	27
1389		PRX085	Preaxial Hallucal Polydactyly	27
1390		THR032	Thoracolaryngopelvic Dysplasia	27
1391	c	PRR026	Perrault Syndrome 5	27
1392		CRT028	Cor Triatriatum	27
1393	c	HLP016	Holoprosencephaly 11	27
1394		GRW039	Growth Retardation, Developmental Delay, and Facial Dysmorphism	27
1395	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	27
1396	c	VNM002	Van Maldergem Syndrome 2	27
1397		PLM013	Pulmonary Immaturity	27
1398	c	HYP698	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2	27
1399		12Q002	12q14 Microdeletion Syndrome	27
1400	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	27
1401	c	BRD050	Bardet-Biedl Syndrome 21	27
1402	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	27
1403		HRY005	Hairy Elbows	27
1404	c	MRG010	Meier-Gorlin Syndrome 3	26
1405		FTL073	Fetal Anticonvulsant Syndrome	26
1406		WLL012	Williams-Beuren Region Duplication Syndrome	26
1407	P	RNL123	Renal Agenesis, Bilateral	26
1408		MCR315	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	26
1409		URC005	Urachal Cyst	26
1410	P	RCR026	Recurrent Hydatidiform Mole	26
1411		NRD028	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies	26
1412	c	ATR047	Atrioventricular Septal Defect 2	26
1413	c	LKD016	Leukodystrophy, Hypomyelinating, 9	26
1414	c	ADL057	Adult Teratoma	26
1415		MCR354	Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures	26
1416	c	HTR009	Heterotaxy, Visceral, 2, Autosomal	26
1417	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	26
1418		FTL064	Fetal Methylmercury Syndrome	26
1419	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	26
1420	P	HYP714	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	26
1421	c	TRS012	Trisomy 22	26
1422		CNG506	Congenital Amyoplasia	26
1423		FTL062	Fetal Iodine Deficiency Disorder	26
1424	P	PLM069	Pulmonary Venous Return Anomaly	26
1425	c	MRG015	Meier-Gorlin Syndrome 7	26
1426		CHR229	Chromosome 20p Duplication	26
1427	c	CLR134	Ciliary Dyskinesia, Primary, 3	26
1428		CNG489	Congenital Herpes Simplex Virus Infection	26
1429		WSM003	Weismann-Netter Syndrome	26
1430	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	26
1431	c	MYS064	Myasthenic Syndrome, Congenital, 16	26
1432	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	26
1433		UNL005	Unilateral Polymicrogyria	25
1434	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	25
1435		ACR039	Acromegaloid Hypertrichosis Syndrome	25
1436		BLP041	Blepharochalasis and Double Lip	25
1437		MYP038	Myopathy, Congenital, Compton-North	25
1438		CHR190	Chromosome 12p Duplication	25
1439		MCR321	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation	25
1440	c	CTR116	Cataract 15, Multiple Types	25
1441	c	MNS008	Monosomy 21	25
1442	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	25
1443		NNG001	Non-Gestational Choriocarcinoma	25
1444	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	25
1445	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	25
1446	c	PRR022	Perrault Syndrome 2	25
1447		16Q001	16q24.3 Microdeletion Syndrome	25
1448		THR101	Thrombocytopenia, Paris-Trousseau Type	25
1449		CHR248	Chromosome 4p Duplication	25
1450	c	NML010	Nemaline Myopathy 7	25
1451		ISL087	Isolated Oxycephaly	25
1452		CRB211	Cerebral Cortical Dysplasia	25
1453	P	PHC014	Phocomelia	25
1454		KPR002	Kapur-Toriello Syndrome	25
1455	c	LKD021	Leukodystrophy, Hypomyelinating, 11	25
1456		CLN022	Colonic Atresia	25
1457	P	PRC050	Pericardium Disease	25
1458	c	PRR024	Perrault Syndrome 3	25
1459	c	FRS016	Fraser Syndrome 2	25
1460		PGD001	Pagod Syndrome	25
1461	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	25
1462	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	25
1463	c	PRR021	Perrault Syndrome 4	25
1464	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	25
1465	c	AML047	Amelogenesis Imperfecta, Type Ia	25
1466		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	25
1467		PRT043	Parietal Foramina with Cleidocranial Dysplasia	25
1468	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	25
1469	c	FCL046	Focal Facial Dermal Dysplasia 4	25
1470	c	MYS077	Myasthenic Syndrome, Congenital, 15	25
1471	c	MRG011	Meier-Gorlin Syndrome 4	24
1472		CHR265	Chromosome 8p Duplication	24
1473	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	24
1474		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	24
1475		CHR212	Chromosome 18p Duplication	24
1476		CLF048	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features	24
1477		OCL030	Oculoauriculofrontonasal Syndrome	24
1478	c	BNM016	Bone Mineral Density Quantitative Trait Locus 1	24
1479		NNG002	Non-Gestational Ovarian Choriocarcinoma	24
1480	c	CTR182	Cataract 23, Multiple Types	24
1481	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	24
1482	c	CLR136	Ciliary Dyskinesia, Primary, 9	24
1483		HGH023	High Bone Mass Osteogenesis Imperfecta	24
1484		LBN004	Liebenberg Syndrome	24
1485	c	CTR124	Cataract 10, Multiple Types	24
1486		CHR209	Chromosome 17p Duplication	24
1487	c	ATR067	Atrioventricular Septal Defect 4	24
1488	c	EPL240	Epileptic Encephalopathy, Early Infantile, 75	24
1489		HRD037	Hardikar Syndrome	24
1490		SPS207	Spastic Paraplegia and Psychomotor Retardation with or Without Seizures	24
1491	c	MLG148	Malignant Hyperthermia 2	24
1492	c	HYD041	Hydatidiform Mole, Recurrent, 2	24
1493	c	RNG021	Ring Chromosome 5	24
1494		ULN023	Ulnar Hypoplasia	24
1495		PTR034	Paternal Uniparental Disomy	24
1496	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	24
1497		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	24
1498	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	24
1499		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	24
1500	c	CHR565	Chromosomal Deletion Syndrome	24
1501	c	LKD022	Leukodystrophy, Hypomyelinating, 13	24
1502	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	24
1503		YNH001	Yuan-Harel-Lupski Syndrome	24
1504		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	24
1505	c	CTR105	Cataract 12, Multiple Types	24
1506	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	24
1507		HLZ001	Holzgreve Syndrome	24
1508	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	24
1509	c	HYP831	Hyperparathyroidism, Transient Neonatal	24
1510	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	24
1511	c	MRG009	Meier-Gorlin Syndrome 2	23
1512	c	BRD051	Bardet-Biedl Syndrome 20	23
1513	c	RNG024	Ring Chromosome 8	23
1514	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	23
1515	c	EPL233	Epileptic Encephalopathy, Early Infantile, 69	23
1516	c	MRG014	Meier-Gorlin Syndrome 6	23
1517	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	23
1518		CHR621	Chromosome 16p11.2 Deletion Syndrome, 593-Kb	23
1519	c	JVN025	Juvenile Primary Osteoporosis	23
1520	P	ART034	Aortopulmonary Window	23
1521		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	23
1522	c	GLP007	Geleophysic Dysplasia 3	23
1523	c	ATR071	Atrioventricular Septal Defect 5	23
1524		HRT018	Heart-Hand Syndrome, Slovenian Type	23
1525	c	NML021	Nemaline Myopathy 9	23
1526	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	23
1527	c	HTR018	Heterotaxy, Visceral, 7, Autosomal	23
1528		CHR498	Chromosome 16p11.2 Duplication Syndrome	23
1529	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	23
1530		CHR252	Chromosome 5p Duplication	23
1531	c	DKP001	Dk Phocomelia Syndrome	23
1532	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	23
1533	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	23
1534	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	23
1535	c	HTR023	Heterotaxy, Visceral, 6, Autosomal	23
1536		TTR016	Tetra-Amelia Syndrome	23
1537	c	HLP022	Holoprosencephaly 8	23
1538	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	23
1539		INT312	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies	23
1540		SCH055	Schilbach-Rott Syndrome	23
1541		ORF053	Orofacial Clefting Syndrome	23
1542	c	MYS065	Myasthenic Syndrome, Congenital, 18	23
1543	c	LKD023	Leukodystrophy, Hypomyelinating, 12	23
1544	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	23
1545	c	LKD030	Leukodystrophy, Hypomyelinating, 17	23
1546		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	23
1547		OSB001	Osebold-Remondini Syndrome	23
1548		CMB084	Combined Oxidative Phosphorylation Deficiency 34	23
1549	c	CCK004	Cockayne Syndrome Type Iii	23
1550	c	MCR228	Microphthalmia, Syndromic 13	23
1551	c	EPL234	Epileptic Encephalopathy, Early Infantile, 70	23
1552		LLS001	Lelis Syndrome	22
1553		VNT030	Ventriculomegaly with Cystic Kidney Disease	22
1554	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	22
1555		RDL022	Radial Hemimelia	22
1556	c	LKD031	Leukodystrophy, Hypomyelinating, 18	22
1557	c	EPL232	Epileptic Encephalopathy, Early Infantile, 68	22
1558	c	EPL241	Epileptic Encephalopathy, Early Infantile, 76	22
1559	c	ORF041	Orofaciodigital Syndrome X	22
1560	c	AML048	Amelogenesis Imperfecta, Type Ih	22
1561	c	RNG019	Ring Chromosome 3	22
1562		DPL009	Duplication of the Pituitary Gland	22
1563	c	BRN086	Branchiootorenal Syndrome 2	22
1564	c	MYS070	Myasthenic Syndrome, Congenital, 19	22
1565	c	LKD027	Leukodystrophy, Hypomyelinating, 14	22
1566	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	22
1567	P	ERL043	Early-Onset Nuclear Cataract	22
1568	c	PTN013	Patent Ductus Arteriosus 2	22
1569		CHR586	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb	22
1570		JNT001	Joint Laxity, Familial	22
1571	c	ADL068	Adult-Onset Nemaline Myopathy	22
1572		CRB165	Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation	22
1573	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	22
1574	c	LTH032	Lethal Congenital Contracture Syndrome 7	22
1575	c	MRG012	Meier-Gorlin Syndrome 5	22
1576	c	ACR105	Acrofrontofacionasal Dysostosis 2	22
1577	c	FRS015	Fraser Syndrome 3	22
1578	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	22
1579	c	BRN138	Branchiootorenal Spectrum Disorder	22
1580	c	MCK020	Meckel Syndrome, Type 11	22
1581	c	LKD028	Leukodystrophy, Hypomyelinating, 15	22
1582	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	22
1583	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	22
1584	c	HYP517	Hypoplastic Left Heart Syndrome 2	22
1585	c	AML018	Amelogenesis Imperfecta, Type Ic	22
1586		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	22
1587		MLT173	Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability	21
1588	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	21
1589		DFF027	Diffuse Lymphatic Malformation	21
1590		CRS011	Criss-Cross Heart	21
1591	c	CRN306	Corneal Dystrophy, Posterior Polymorphous, 4	21
1592	c	MLG149	Malignant Hyperthermia 3	21
1593	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	21
1594	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	21
1595		DFN308	Deafness, Progressive, with Stapes Fixation	21
1596	c	MLG150	Malignant Hyperthermia 4	21
1597	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	21
1598		ORB019	Orbital Margin, Hypoplasia of	21
1599		ALR004	Alar Cleft, Isolated	21
1600		VNF001	Vein of Galen Aneurysm	21
1601		BLT020	Bilateral Multicystic Dysplastic Kidney	21
1602	c	MCK036	Meckel Syndrome, Type 9	21
1603		IST006	Isotretinoin Syndrome	21
1604		LNG101	Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome	21
1605	c	HTR020	Heterotaxy, Visceral, 8, Autosomal	21
1606		ECT085	Ectopia Cordis	21
1607	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	21
1608	c	AML059	Amelogenesis Imperfecta, Type Ij	21
1609		OPT058	Optic Disc Anomalies with Retinal and/or Macular Dystrophy	21
1610	c	EPL238	Epileptic Encephalopathy, Early Infantile, 73	21
1611		DPR014	Diprosopus	21
1612		MSM019	Mesomelic Dysplasia, Savarirayan Type	21
1613	c	EPL239	Epileptic Encephalopathy, Early Infantile, 74	20
1614	c	INT005	Intermediate Malignant Teratoma	20
1615	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	20
1616	c	RNG025	Ring Chromosome 9	20
1617	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	20
1618		TTR019	Tetrasomy 5p	20
1619		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	20
1620	c	AML050	Amelogenesis Imperfecta, Type if	20
1621		ATR053	Atresia of Urethra	20
1622		RTH002	Rutherfurd Syndrome	20
1623	c	EPL237	Epileptic Encephalopathy, Early Infantile, 72	20
1624		SPL057	Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects	20
1625	c	ART131	Arthrogryposis, Distal, Type 4	20
1626		CRT061	Cor Triatriatum Dexter	20
1627	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	20
1628		MSC017	Mosaic Trisomy 22	20
1629		ERM001	Ermine Phenotype	20
1630		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	20
1631	c	MTP014	Metaphyseal Anadysplasia 2	20
1632		8PN001	8p Inverted Duplication/deletion Syndrome	20
1633	c	RNL099	Renal Hypodysplasia/aplasia 2	20
1634		SYN112	Syndromic Microphthalmia-Anophthalmia-Coloboma	20
1635	c	ATR064	Atrioventricular Septal Defect 3	20
1636	c	LKD029	Leukodystrophy, Hypomyelinating, 16	19
1637	c	MLG152	Malignant Hyperthermia 6	19
1638		CHR483	Chromosome 3q13.31 Deletion Syndrome	19
1639	c	CHR227	Chromosome 20 Trisomy	19
1640		CHR241	Chromosome 2q24 Microdeletion Syndrome	19
1641	c	ATS454	Autosomal Trisomy	19
1642	c	RNG006	Ring Chromosome 11	19
1643	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	19
1644		PRG122	Prognathism, Mandibular	19
1645		DRM042	Dermatoosteolysis, Kirghizian Type	19
1646		CRB161	Cerebellar Ataxia and Ectodermal Dysplasia	19
1647		FCL068	Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome	19
1648	c	PRR033	Perrault Syndrome 6	19
1649		RGH010	Right Ventricular Hypoplasia, Isolated	19
1650		ODN020	Odontoma-Dysphagia Syndrome	19
1651	c	MRG016	Meier-Gorlin Syndrome 8	19
1652		PRR029	Pierre Robin Syndrome and Oligodactyly	19
1653		UNL014	Unilateral Multicystic Dysplastic Kidney	18
1654		FTL018	Fetal Indomethacin Syndrome	18
1655		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	18
1656	c	CNG579	Congenital Nemaline Myopathy	18
1657		CLF033	Cleft Mitral Valve	18
1658		OCL057	Oculotrichodysplasia	18
1659		ZCH002	Zechi-Ceide Syndrome	18
1660		PLD002	Pilodental Dysplasia with Refractive Errors	18
1661		ANT065	Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis	18
1662		HMF007	Hemifacial Hyperplasia with Strabismus	18
1663	P	CNG070	Congenital Dislocation of the Patella	18
1664		1QD001	1q Duplications	18
1665		EPB002	Epiblepharon	18
1666		FCD002	Faciodigitogenital Syndrome, Autosomal Recessive	18
1667		LMB057	Lumbosacral Spina Bifida Aperta	18
1668		MCR307	Microspherophakia-Metaphyseal Dysplasia	18
1669		PRM334	Primary Bone Dysplasia with Increased Bone Density	18
1670		ATR019	Atrial Septal Defect Sinus Venosus	18
1671		KPS005	Kaposiform Lymphangiomatosis	18
1672	P	ATS469	Autosomal Monosomy	18
1673		DST059	Distal Trisomy 17q	18
1674		SBR011	Subaortic Stenosis--Short Stature Syndrome	18
1675		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	17
1676		UPN001	Upington Disease	17
1677	c	PRG096	Pregnancy Loss, Recurrent 2	17
1678		RDL030	Radial-Renal Syndrome	17
1679		CHR612	Chromosome 15q14 Deletion Syndrome	17
1680		DST037	Distal Monosomy 9p	17
1681	c	AML064	Amelogenesis Imperfecta, Type Iiic	17
1682		MMB012	Membranous Cranial Ossification, Delayed	17
1683		HLP020	Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence	17
1684		MCR303	Macrosomia with Microphthalmia, Lethal	17
1685		ILL003	Illum Syndrome	17
1686		SMS004	Simosa Craniofacial Syndrome	17
1687		UPP007	Upper Thoracic Spina Bifida Cystica	17
1688		UPP008	Upper Thoracic Spina Bifida Aperta	17
1689		THR085	Thoracolumbosacral Spina Bifida Aperta	17
1690		ANR043	Aniridia and Absent Patella	17
1691		MSC081	Mosaic Trisomy 15	17
1692		DRL001	Dural Sinus Malformation	17
1693		TBL027	Tubulinopathy-Associated Dysgyria	17
1694	c	RNG014	Ring Chromosome 19	17
1695		FBL018	Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities	17
1696		CMP074	Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye	17
1697		ANM074	Anomalous Origin of Coronary Artery from the Pulmonary Artery	17
1698	c	RNG011	Ring Chromosome 16	17
1699		ANG067	Angioma, Hereditary Neurocutaneous	17
1700	c	HLP021	Holoprosencephaly 6	17
1701	c	BNM031	Bone Mineral Density Quantitative Trait Locus 17	17
1702		MSM018	Mesomelic Limb Shortening and Bowing	17
1703	c	NNS019	Nonsyndromic Holoprosencephaly	17
1704		CMM018	Common Mesentery	17
1705	c	CNG540	Congenital Anomalies of Kidney and Urinary Tract 3	16
1706		BND017	Bone Dysplasia, Lethal, Holmgren Type	16
1707		SPS192	Spastic Paraparesis and Deafness	16
1708		CLF034	Cleft Hard Palate	16
1709		ISL118	Isolated Tracheoesophageal Fistula	16
1710		CNT114	Central Nervous System Malformation	16
1711		BLT023	Bilateral Acute Depigmentation of the Iris	16
1712		BKS002	Book Syndrome	16
1713	c	PTS018	Ptosis, Hereditary Congenital 1	16
1714		TRG007	Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet	16
1715		AML012	Ameloonychohypohidrotic Syndrome	16
1716		BWN005	Bowing of Long Bones Congenital	16
1717		MTH070	Methimazole Antenatal Exposure	16
1718	c	MTR067	Maternal Uniparental Disomy of Chromosome 16	16
1719		BMR004	Beemer Lethal Malformation Syndrome	16
1720		TRS011	Trisomy 2 Mosaicism	16
1721		CMP073	Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia	16
1722		ANR044	Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation	16
1723		DDL001	Didelphys Uterus	16
1724		16P003	16p13.11 Microdeletion Syndrome	16
1725	c	AML056	Amelogenesis Imperfecta, Type Iiib	16
1726		DPH023	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull	16
1727		HYD021	Hydrocephalus Obesity Hypogonadism	16
1728		TLP002	Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals	16
1729		DYS183	Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas	16
1730		PCT002	Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails	16
1731		PYK001	Pyknoachondrogenesis	16
1732		GTR012	Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies	16
1733		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	16
1734		ULN021	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	16
1735		TND002	Tendons, Extensor, of Fingers, Anomalous Insertion of	16
1736		ENC043	Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration	16
1737		SBP005	Subpulmonary Stenosis	15
1738	c	PTS010	Ptosis, Hereditary Congenital 2	15
1739		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	15
1740		XP2001	Xp22.3 Microdeletion Syndrome	15
1741		OST148	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	15
1742		TTH022	Teeth, Congenital Absence of, with Taurodontia and Sparse Hair	15
1743		ODN008	Odontomicronychial Dysplasia	15
1744	c	PRG093	Pregnancy Loss, Recurrent 3	15
1745		LSS034	Lissencephaly Type Iii and Bone Dysplasia	15
1746		ECT086	Ectrodactyly-Polydactyly	15
1747		ESP040	Esophageal Duplication Cyst	15
1748		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	15
1749		CRT079	Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta	15
1750		OST061	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	15
1751	c	HYD068	Hydatidiform Mole, Recurrent, 4	15
1752		VLF001	Velofacioskeletal Syndrome	15
1753		ECT091	Ectodermal Dysplasia with Natal Teeth, Turnpenny Type	15
1754		NDL022	Nodular Neuronal Heterotopia	15
1755		PRT237	Partial Deletion of the Long Arm of Chromosome 16	15
1756		3Q2006	3q27.3 Microdeletion Syndrome	15
1757	P	LTH050	Lethal Chondrodysplasia	15
1758	c	CTR176	Cataract, Age-Related Nuclear	15
1759		HYD051	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis	15
1760		ECT087	Ectodermal Dysplasia, Trichoodontoonychial Type	15
1761	c	HTR012	Heterotaxy, Visceral, 3, Autosomal	15
1762		MCR242	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	15
1763		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	15
1764		ADC008	Adactylia, Unilateral	15
1765		CMP079	Complete Septate Uterus	15
1766		RDL028	Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema	15
1767		FRN047	Frontonasal Dysplasia with Alar Clefts	15
1768		TYS007	Tyshchenko Syndrome	15
1769		RNL109	Renal Hypoplasia, Bilateral	15
1770		SPS196	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	14
1771		PRB002	Proboscis Lateralis	14
1772		PRR030	Pierre Robin Sequence with Facial and Digital Anomalies	14
1773		PHL009	Phalangeal Microgeodic Syndrome	14
1774	c	MTR061	Maternal Uniparental Disomy of Chromosome 6	14
1775		CMP098	Complex Vascular Malformation with Associated Anomalies	14
1776	c	ISC010	Isochromosome Yp	14
1777		20Q003	20q11.2 Microdeletion Syndrome	14
1778		PRS111	Persistent Fifth Aortic Arch	14
1779	c	BNM021	Bone Mineral Density Quantitative Trait Locus 7	14
1780	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	14
1781		BNK001	Banki Syndrome	14
1782		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	14
1783		UMB001	Umbilical Cord Ulceration and Intestinal Atresia	14
1784		FRT004	Fourth Branchial Cleft Anomaly	14
1785		RCT033	Rectal Duplication	14
1786		49X005	49, Xxxyy Syndrome	14
1787		VCL007	Vocal Cord Paralysis and Ptosis	14
1788		DST069	Distal Monosomy 12q	14
1789		EPP005	Epiphyseal Dysplasia Hearing Loss Dysmorphism	13
1790	c	PTR011	Paternal Uniparental Disomy of Chromosome 1	13
1791		CMP022	Camptodactyly Taurinuria	13
1792		MSC079	Mosaic Trisomy 1	13
1793	c	CMP100	Campomelic Dysplasia and Related Disorders	13
1794		CRY037	Cryptophthalmia	13
1795		PRT178	Partial Deletion of the Long Arm of Chromosome 5	13
1796		RDL031	Radial Aplasia, X-Linked	13
1797		GRH002	Graham Boyle Troxell Syndrome	13
1798		CRN310	Cranial Malformation	13
1799		20P001	20p12.3 Microdeletion Syndrome	13
1800	c	RNG031	Ring Chromosome Y Syndrome	13
1801		CNG344	Congenital Anomaly of the Inferior Vena Cava	13
1802		CNG587	Congenital Limb Malformation	13
1803		CNG235	Congenital Microgastria	13
1804		8P1001	8p11.2 Deletion Syndrome	13
1805		DST038	Distal Monosomy 7q36	13
1806		LBR027	Laubry-Pezzi Syndrome	13
1807		SCL050	Scoliosis, Arachnodactyly, and Blindness	13
1808	P	FRS017	Fraser-Like Syndrome	13
1809		VNB001	Van Benthem-Driessen-Hanveld Syndrome	13
1810		LTR017	Lateral Facial Cleft	13
1811		11Q001	11q22.2q22.3 Microdeletion Syndrome	12
1812		49X004	49,xyyyy Syndrome	12
1813		PLT010	Pili Torti Onychodysplasia	12
1814		TRN045	True Unicornuate Uterus	12
1815		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	12
1816	c	ORF006	Orofaciodigital Syndrome 13	12
1817		XP2002	Xp22.13p22.2 Duplication Syndrome	12
1818		GLS016	Glossopalatine Ankylosis	12
1819		PRM319	Primary Bone Dysplasia	12
1820		ISL111	Isolated Arrhinia	12
1821		BRN122	Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	12
1822		CNG335	Congenital Ectropion Uveae	12
1823	c	CNG343	Congenital Coronary Artery Aneurysm	12
1824		PRT180	Partial Deletion of the Long Arm of Chromosome 7	12
1825		LPM011	Lip, Median Nodule of Upper	12
1826		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	12
1827		APR008	Aprosencephaly and Cerebellar Dysgenesis	12
1828		CTR151	Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	12
1829		DNC006	Diencephalic-Mesencephalic Junction Dysplasia	12
1830		FNG014	Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature	12
1831		NND003	Non-Distal Trisomy 10q	12
1832	c	RRC022	Rare Chromosomal Anomaly	12
1833		CRN307	Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	12
1834		THR083	Third Branchial Cleft Anomaly	12
1835		CLF040	Cleft Lip-Retinopathy Syndrome	11
1836		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	11
1837		CNG357	Congenital Symblepharon	11
1838		10Q002	10q22.3q23.3 Microduplication Syndrome	11
1839		DPL010	Duplication of the Esophagus	11
1840	c	BNM017	Bone Mineral Density Quantitative Trait Locus 2	11
1841		SPS188	Spastic Paraplegia-Paget Disease of Bone Syndrome	11
1842	c	MTC199	Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis	11
1843	c	TRS033	Trisomy 18-Like Syndrome	11
1844		PRT186	Partial Duplication of the Long Arm of Chromosome X	11
1845		OST142	Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	11
1846		MDL028	Midline Cerebral Malformation	11
1847		DST055	Distal 22q11.2 Microduplication Syndrome	11
1848		CRV060	Cervical Dermoid Cyst	11
1849	c	CNG455	Congenital Aortopulmonary Window	11
1850	c	CHR161	Chiari Malformation Type 3	11
1851		PRS112	Persistent Eustachian Valve	11
1852		HYP671	Hypomyelination Neuropathy-Arthrogryposis Syndrome	11
1853		DST052	Distal 7q11.23 Microduplication Syndrome	11
1854	c	PRM246	Primary Tethered Cord Syndrome	11
1855		MCR186	Microtriplication 11q24.1	10
1856	c	RRD018	Rare Disease with Pierre Robin Syndrome	10
1857		ERL036	Early-Onset Posterior Subcapsular Cataract	10
1858	c	BNM023	Bone Mineral Density Quantitative Trait Locus 9	10
1859	c	BNM024	Bone Mineral Density Quantitative Trait Locus 10	10
1860	c	BNM026	Bone Mineral Density Quantitative Trait Locus 12	10
1861	c	BNM028	Bone Mineral Density Quantitative Trait Locus 14	10
1862		PRT165	Partial Deletion of the Short Arm of Chromosome 7	10
1863		ATS453	Autosomal Anomaly	10
1864		PHN013	Phenobarbital Antenatal Exposure	10
1865		46X015	46,xy Ovotesticular Disorder of Sex Development	10
1866		OST114	Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	10
1867		THN011	Thin Ribs-Tubular Bones-Dysmorphism Syndrome	10
1868		ERL027	Early-Onset Non-Syndromic Cataract	10
1869		MSC088	Mosaic Trisomy 5	10
1870		LRY034	Laryngotracheal Angioma	10
1871		PRT144	Partial Deletion of Chromosome 2	10
1872		NND005	Non-Distal Trisomy 13q	10
1873		PRT160	Partial Deletion of the Short Arm of Chromosome 4	10
1874		INV014	Inverse Klippel-Trenaunay Syndrome	10
1875	c	BNM019	Bone Mineral Density Quantitative Trait Locus 5	10
1876		RNL107	Renal Dysplasia, Bilateral	10
1877		4P1001	4p16.3 Microduplication Syndrome	10
1878	c	FML317	Familial Monosomy 7 Syndrome	10
1879		NND004	Non-Distal Monosomy 10q	10
1880		DST079	Distal Trisomy 5q	10
1881		DST089	Distal Trisomy 3p	10
1882	c	ANG059	Angelman Syndrome Due to Imprinting Defect in 15q11-Q13	10
1883		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	10
1884		PRC042	Parachute Tricuspid Valve	10
1885		CRN207	Coronary Sinus Stenosis	10
1886		PRC041	Pericardial and Diaphragmatic Defect	10
1887	c	BNM025	Bone Mineral Density Quantitative Trait Locus 11	10
1888	c	BNM027	Bone Mineral Density Quantitative Trait Locus 13	10
1889		PRT204	Partial Duplication of the Long Arm of Chromosome 4	10
1890		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	10
1891		SYN143	Syndromic Telecanthus	10
1892	c	AML063	Amelogenesis Imperfecta Type 2a1	10
1893		SYN148	Syndromic Aniridia	10
1894		PRT215	Partial Duplication of the Short Arm of Chromosome 2	10
1895	c	RRR004	Rare Arteriovenous Malformation	10
1896		ANG057	Angioosteohypotrophic Syndrome	10
1897		DST085	Distal Trisomy 2q	10
1898		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	9
1899		PRT106	Partial Duplication of the Short Arm of Chromosome X	9
1900	c	PTL011	Patella, Familial Recurrent Dislocation of	9
1901	c	BNM014	Bone Mineral Density Quantitative Trait Locus 4	9
1902	c	BNM020	Bone Mineral Density Quantitative Trait Locus 6	9
1903		RRV006	Rare Venous Malformation	9
1904		DST071	Distal Monosomy 19p13.3	9
1905		PRT219	Partial Duplication of the Short Arm of Chromosome 6	9
1906		DST076	Distal Trisomy 13q	9
1907		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	9
1908		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	9
1909		XLN204	X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	9
1910		INV017	Inverse Marcus-Gunn Phenomenon	9
1911		OST144	Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	9
1912	c	CNG398	Congenital Pulmonary Airway Malformation Type 1	9
1913		PRT218	Partial Duplication of the Short Arm of Chromosome 3	9
1914		PRT162	Partial Deletion of the Short Arm of Chromosome 6	9
1915		PRT202	Partial Duplication of the Long Arm of Chromosome 6	9
1916	c	MCR185	Macrodactyly of Toes	9
1917	c	CNG249	Congenital Pulmonary Venous Return Anomaly	9
1918	c	SCN085	Secondary Ectropion	9
1919		DST078	Distal Trisomy 6q	9
1920		DVL026	Developmental Defect of the Eye	9
1921		ECT107	Ectasia of the Left Atrial Appendage	9
1922	c	CNG251	Congenital Pericardium Anomaly	9
1923		9Q3002	9q33.3q34.11 Microdeletion Syndrome	9
1924		ESP045	Esophageal Malformation	9
1925	c	ANG052	Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15	9
1926	P	PRT196	Partial Trisomy of the Long Arm of Chromosome 16	9
1927		TBF001	Tibio-Fibular Synostosis	9
1928		ACC010	Accessory Tricuspid Valve Tissue	9
1929		DYS044	Dysmorphism Cleft Palate Loose Skin	9
1930		CNT077	Central Bilateral Macrogyria	9
1931		PRT241	Partial Deletion of the Long Arm of Chromosome 20	9
1932		DST057	Distal Trisomy 19q	9
1933		RNL106	Renal Dysplasia, Unilateral	9
1934		OST146	Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome	9
1935	P	PRM337	Primary Osteolysis	8
1936		FRN052	Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	8
1937		PRT174	Partial Deletion of the Long Arm of Chromosome 1	8
1938		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	8
1939		DST090	Distal Trisomy 2p	8
1940		TRS020	Tarsal Kink Syndrome	8
1941	P	PRT183	Partial Monosomy of the Long Arm of Chromosome 10	8
1942		PRT230	Partial Duplication of Chromosome 3	8
1943		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	8
1944		PRT199	Partial Duplication of the Long Arm of Chromosome 13	8
1945		ERL042	Early-Onset Partial Cataract	8
1946		OTM002	Otomandibular Dysplasia	8
1947	c	ANG053	Angelman Syndrome Due to Maternal 15q11q13 Deletion	8
1948		PRT171	Partial Deletion of the Short Arm of Chromosome 18	8
1949		SPN341	Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	8
1950	c	PTR019	Paternal Uniparental Disomy of Chromosome 5	8
1951		ISL028	Isolated Cerebellar Vermis Hypoplasia	8
1952		PRT152	Partial Deletion of Chromosome 10	8
1953		PRT207	Partial Duplication of the Short Arm of Chromosome 7	8
1954		ISL108	Isolated Splenogonadal Fusion	8
1955		SYN127	Syndromic Ectopia Lentis	8
1956		RRC028	Rare Congenital Non-Syndromic Heart Malformation	8
1957		DST087	Distal Trisomy 7p	8
1958		PRT159	Partial Deletion of the Short Arm of Chromosome 1	8
1959		CRN208	Coronary Sinus Atresia	8
1960		PRT234	Partial Duplication of Chromosome 7	8
1961	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	8
1962		PRT138	Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	8
1963		INT355	Intercalary Limb Defects	7
1964		3Q2004	3q26 Microduplication Syndrome	7
1965		PLY086	Polyrrhinia	7
1966		PRT151	Partial Deletion of Chromosome 16	7
1967		PRT222	Partial Duplication of Chromosome 8	7
1968		SYN147	Syndromic Ankyloblepharon Filiforme Adnatum	7
1969		PRT181	Partial Deletion of the Long Arm of Chromosome 8	7
1970	c	CRB078	Cerebrocostomandibular-Like Syndrome	7
1971	c	PRT190	Partial Trisomy of the Long Arm of Chromosome 18	7
1972	c	ISC013	Isochromosomy Yq	7
1973	P	RRC010	Rare Capillary Malformation	7
1974	P	PRT170	Partial Monosomy of the Short Arm of Chromosome 17	7
1975		PRT177	Partial Deletion of the Long Arm of Chromosome 4	7
1976	c	PRT173	Partial Monosomy of the Short Arm of Chromosome 20	7
1977		RNN007	Reunion Island Larsen-Like Syndrome	7
1978		PHK009	Phakomatosis Cesiomarmorata	7
1979	c	MTR079	Maternal Uniparental Disomy of Chromosome 13	7
1980		PRN015	Perinatal Intestinal Perforation	7
1981		PRT193	Partial Duplication of the Long Arm of Chromosome 11	7
1982	c	CHR162	Chiari Malformation Type 4	6
1983		CMM016	Commissural Lip Fistula	6
1984		PRT242	Partial Deletion of the Long Arm of Chromosome 21	6
1985		DST058	Distal Monosomy 12p	6
1986		DST074	Distal Trisomy 20q	6
1987		DST075	Distal Trisomy 16q	6
1988	c	RNL090	Renal Tubular Dysgenesis Due to Twin-Twin Transfusion	6
1989		CLS025	Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency	6
1990		CLS027	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form	6
1991		CLS028	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form	6
1992		XLN221	X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome	6
1993		NNS047	Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration	6
1994		7Q3001	7q31 Microdeletion Syndrome	6
1995		PRT148	Partial Deletion of Chromosome 6	6
1996		DST054	Distal 17p13.3 Microdeletion Syndrome	6
1997		ATY043	Atypical Norrie Disease Due to Xp11.3 Microdeletion	6
1998	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	6
1999		IDP088	Idiopathic Isolated Micropenis	6
2000		TBL020	Tubular Duplication of the Esophagus	6
2001		NSN002	Nose and Cavum Anomaly	6
2002	c	ANG058	Angelman Syndrome Due to a Point Mutation	6
2003	c	RRD061	Rare Disorder with Ptosis	6
2004		PRT147	Partial Deletion of Chromosome 9	6
2005		PRT211	Partial Duplication of the Short Arm of Chromosome 11	6
2006		12Q001	12q15q21.1 Microdeletion Syndrome	6
2007		EXT047	Extralobar Congenital Pulmonary Sequestration	6
2008		PRT098	Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome	6
2009		GST110	Gastroduodenal Malformation	6
2010		TRC084	Tricuspid Valve Agenesis	6
2011		DST066	Distal Monosomy 20q	6
2012		DST073	Distal Monosomy 7p	6
2013		DST083	Distal Trisomy 9q	6
2014		LNS008	Lens Position Anomaly	6
2015		SYN155	Syndromic Anorectal Malformation	6
2016	c	YCH004	Y Chromosomal Anomaly	5
2017		MDN007	Median Cleft Lip/mandibule	5
2018		PRT155	Partial Deletion of Chromosome 17	5
2019		PRM320	Primary Bone Dysplasia with Micromelia	5
2020		FBL015	Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	5
2021		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	5
2022		LSS032	Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome	5
2023		DRG019	Drug-Related Renal Tubular Dysgenesis	5
2024		PRM332	Primary Bone Dysplasia with Defective Bone Mineralization	5
2025		PRM333	Primary Bone Dysplasia with Decreased Bone Density	5
2026		NNT057	Neonatal Osteosclerotic Dysplasia	5
2027		PRM335	Primary Bone Dysplasia with Multiple Joint Dislocations	5
2028		PRM336	Primary Bone Dysplasia with Disorganized Development of Skeletal Components	5
2029		SLN010	Slender Bone Dysplasia	5
2030		CNG601	Congenital Tricuspid Malformation	5
2031		BCR005	Bicervical Bicornuate Uterus and Blind Hemivagina	5
2032		PRT191	Partial Duplication of the Long Arm of Chromosome 17	5
2033	c	PRT194	Partial Trisomy of the Long Arm of Chromosome 9	5
2034		PRT198	Partial Duplication of the Long Arm of Chromosome 14	5
2035		PRT227	Partial Deletion of the Long Arm of Chromosome 22	5
2036		PRT240	Partial Deletion of the Long Arm of Chromosome 19	5
2037		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	5
2038		CNG571	Congenital Disorder of Glycosylation-Related Bone Disorder	5
2039		ISL117	Isolated Congenital Radial Head Dislocation	5
2040		CNG583	Congenital Urachal Anomaly	5
2041		STR107	Sterol Biosynthesis Disorder	5
2042		DST070	Distal Monosomy 4q	5
2043		UNV004	Univentricular Heart with Single Atrio-Ventricular Valve	5
2044		CNG353	Congenital Partial Agenesis of Pericardium	5
2045		CNG354	Congenital Complete Agenesis of Pericardium	5
2046		SYN144	Syndromic Outer Canthal Malposition	5
2047		SYN145	Syndromic Epicanthus	5
2048		CRN313	Corneodysgenesis	5
2049		SYN097	Syndromic Urogenital Tract Malformation	5
2050		NNC007	Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency	5
2051	c	LSS022	Lissencephaly with Cerebellar Hypoplasia Type D	5
2052	c	LSS023	Lissencephaly with Cerebellar Hypoplasia Type C	5
2053		ISL106	Isolated Congenital Microcephaly	5
2054		PRP094	Propylthiouracil Embryofetopathy	5
2055		SYN160	Syndromic Intestinal Malformation	5
2056	c	ATS022	Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract	4
2057		LWS004	Low Isolated Anorectal Malformation	4
2058	c	TSS003	Tessier Number 6 Facial Cleft	4
2059		PRT201	Partial Duplication of the Long Arm of Chromosome 3	4
2060		MXD034	Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations	4
2061		2P1003	2p13.2 Microdeletion Syndrome	4
2062		CNG577	Congenital Deformities of Limbs	4
2063		PRT245	Partial Deletion of Chromosome 12	4
2064		CNT081	Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome	4
2065		MCR188	Macrodactyly of Fingers, Unilateral	4
2066		MCR190	Macrodactyly of Toes, Unilateral	4
2067		CDL007	Caudal Regression-Sirenomelia Spectrum	4
2068		ARX004	Arx-Related Encephalopathy-Brain Malformation Spectrum	4
2069		4Q2002	4q25 Proximal Deletion Syndrome	4
2070		LRP007	Lrp5-Related Primary Osteoporosis	4
2071		RRC020	Rare Congenital Anomaly of Ventricular Septum	4
2072		RSP024	Respiratory or Mediastinal Malformation	4
2073		SYN141	Syndromic Renal or Urinary Tract Malformation	4
2074		RRP026	Rare Palpebral Disorder	4
2075		RRT022	Rare Atrial Defect and Interatrial Communication	4
2076		MLT174	Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome	4
2077		MLT175	Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability	4
2078	c	TTL014	Total Autosomal Monosomy	4
2079	c	RRD045	Rare Disorder with Ectropion	4
2080	c	BLT012	Bilateral Renal Agenesis Dominant Type	4
2081		PRR038	Pierre Robin Syndrome Associated with Bone Disease	4
2082		PNN004	Pinnae Fistula or Cyst	4
2083		CNG391	Congenital Pseudoarthrosis of the Limbs	4
2084		PRT210	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18	4
2085		PRT224	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12	4
2086		MRF016	Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome	4
2087		PRT247	Partial Duplication of the Short Arm of Chromosome 19	4
2088	c	RRD027	Rare Disease with Malignant Hyperthermia	4
2089		ISL130	Isolated Congenital Entropion	4
2090		STR109	Structural Developmental Eye Defect	4
2091		XLN155	X-Linked Intellectual Disability, Sutherland-Haan Type	4
2092		LNS009	Lens Size Anomaly	4
2093		CNG598	Congenital Malformation of the Eye with Glaucoma As a Major Feature	4
2094	c	XND001	X and Y Chromosomal Anomaly	4
2095	c	RRD046	Rare Disorder with Entropion	4
2096		HYP506	Hypoplasia of the Mitral Valve Annulus	4
2097		HGH040	High Isolated Anorectal Malformation	4
2098		ISL107	Isolated Congenital Syngnathia	4
2099	c	XCH002	X Chromosome Number Anomaly	4
2100		MLF006	Malformation of the Neurenteric Canal, Spinal Cord and Column	4
2101		PRT243	Partial Duplication of the Short Arm of Chromosome 1	4
2102		CNG576	Congenital Deformities of Fingers	4
2103		SPG003	Spigelian Hernia-Cryptorchidism Syndrome	4
2104		CNG315	Congenital Vertical Talus, Unilateral	4
2105		MCR187	Macrodactyly of Fingers, Bilateral	4
2106		MCR189	Macrodactyly of Toes, Bilateral	4
2107		LTH049	Lethal Multiple Congenital Anomalies/dysmorphic Syndrome	4
2108		OVR126	Overgrowth or Tall Stature Syndrome with Skeletal Involvement	4
2109		GNT161	Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy	4
2110		RNF001	Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	4
2111		DPH030	Diaphragmatic or Abdominal Wall Malformation	4
2112		NNS058	Non-Syndromic Renal or Urinary Tract Malformation	4
2113		ENC035	Encircling Double Aortic Arch	4
2114		SYN157	Syndromic Respiratory or Mediastinal Malformation	4
2115		NNS064	Non-Syndromic Central Nervous System Malformation	4
2116	c	SYN028	Syngnathia Multiple Anomalies	3
2117		SYN102	Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature	3
2118		MTR085	Maternal Disease-Related Embryofetopathy	3
2119		TRC124	True Congenital Shoulder Dislocation	3
2120		ECT112	Ectrodactyly with and Without Other Manifestations	3
2121		ISL127	Isolated Blepharochalasis	3
2122		ISL132	Isolated Megalopapilla	3
2123		SYN130	Syndromic Lacrimal System Disorder	3
2124		RRT021	Rare Otorhinolaryngological Malformation	3
2125		ART160	Arterial Duct Anomaly	3
2126		STR076	Straddling and/or Overriding Mitral Valve	3
2127		CNG360	Congenital Unguarded Mitral Orifice	3
2128		HRT042	Heart Position Anomaly	3
2129		PSD120	Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy	3
2130		RRV004	Rare Vaginal Malformation	3
2131		PRR039	Pierre Robin Syndrome Associated with Branchial Archs Anomalies	3
2132		RRS007	Rare Syndrome with Cardiac Malformations	3
2133		PRL049	Paralytic Facial Malformation	3
2134		PRT214	Partial Trisomy/tetrasomy of Chromosome 18	3
2135		PRT221	Partial Trisomy/tetrasomy of Chromosome 9	3
2136		LPM014	Lipoma Associated with Neurospinal Dysraphism	3
2137		OTH014	Other Syndrome with a Central Nervous System Malformation As Major Feature	3
2138		CNT113	Central Nervous System Cystic Malformation	3
2139		INF180	Infantile Hemangioma of Rare Localization	3
2140	c	MTC198	Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes	3
2141		CNG322	Congenital Elbow Dislocation, Unilateral	3
2142		PRN070	Prune1-Related Neurological Syndrome	3
2143	P	CHR690	Chromosome Y Structural Anomaly	3
2144	c	CHR691	Chromosome X Structural Anomaly	3
2145		MLF007	Malformation Syndrome with Hamartosis	3
2146		CRN315	Cranial Nerve and Nuclear Aplasia	3
2147		NNS062	Non-Syndromic Limb Malformation	3
2148		NNS063	Non-Syndromic Respiratory or Mediastinal Malformation	3
2149		SYN161	Syndromic Visceral Malformation	3
2150	c	PLM183	Pulmonary Hypoplasia, Familial Primary	3
2151		RRD017	Rare Developmental Defect with Connective Tissue Involvement	3
2152		RRH012	Rare Head and Neck Malformation	3
2153		CRV059	Cervicofacial Fibrochondroma	3
2154		PNN007	Pinnae and External Auditory Canal Anomaly	3
2155		RRD038	Rare Disorder with Hirschsprung Disease As a Major Feature	3
2156		PLM194	Pulmonary Artery or Pulmonary Branch Anomaly	3
2157		NNS050	Non-Syndromic Urogenital Tract Malformation of Female	2
2158		SYN107	Syndrome or Malformation Associated with Head and Neck Malformations	2
2159		ORM003	Oromandibular-Limb Anomalies Syndrome	2
2160		PLY186	Polysomy of X Chromosome	2
2161		XCH001	X Chromosome Number Anomaly with Male Phenotype	2
2162		NNS053	Non Syndromic Limb Overgrowth	2
2163		PRT248	Partial Autosomal Trisomy/tetrasomy	2
2164		CHR693	Chromosomal Disease with Overgrowth	2
2165	P	TST021	Testicular Germ Cell Tumor	63
2166	c	TST046	Testicular Germ Cell Tumor 1	30
2167		UND001	Undifferentiated Embryonal Sarcoma of the Liver	30
2168	P	MDL005	Medulloblastoma	78
2169	c	ADL023	Adult Medulloblastoma	41
2170		SPR008	Supratentorial Primitive Neuroectodermal Tumor	39
2171		CHL048	Childhood Teratocarcinoma of the Testis	7
2172		NRL016	Neural Tube Defects	83
2173		PHN003	Phenylketonuria	73
2174		XRD010	Xeroderma Pigmentosum, Variant Type	72
2175		LPD012	Lipoid Congenital Adrenal Hyperplasia	71
2176		CNT097	Central Hypoventilation Syndrome, Congenital	70
2177	P	CRN037	Craniosynostosis	69
2178		FBR012	Fabry Disease	68
2179		AND002	Androgen Insensitivity Syndrome	66
2180	P	ALP004	Alport Syndrome	66
2181	P	CRB048	Cerebral Cavernous Malformations	65
2182		CRN036	Craniopharyngioma	65
2183	P	LYS001	Loeys-Dietz Syndrome	65
2184	P	JVN014	Juvenile Polyposis Syndrome	64
2185	P	KBK002	Kabuki Syndrome 1	64
2186	P	TRC072	Treacher Collins Syndrome 1	63
2187		MCR013	Microphthalmia	62
2188		INC021	Incontinentia Pigmenti	62
2189	c	BRN108	Branchiootic Syndrome 1	62
2190		RTH001	Rothmund-Thomson Syndrome	62
2191	P	HMN010	Hemangioma	62
2192	c	VSC019	Vesicoureteral Reflux 1	62
2193		PLL001	Pallister-Hall Syndrome	62
2194	P	CLD001	Cleidocranial Dysplasia	62
2195		CHR619	Chromosome 2q35 Duplication Syndrome	61
2196	P	CRN015	Cornelia De Lange Syndrome	60
2197		CRT002	Cartilage-Hair Hypoplasia	60
2198	P	DNT020	Dent Disease 1	60
2199	c	CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	59
2200		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	59
2201		MCK005	Mckusick-Kaufman Syndrome	58
2202		WLF002	Wolf-Hirschhorn Syndrome	58
2203		DNY001	Denys-Drash Syndrome	57
2204		DST005	Diastrophic Dysplasia	56
2205		MNK003	Muenke Syndrome	56
2206	c	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	56
2207	P	MLT007	Multiple Epiphyseal Dysplasia	56
2208		PSD014	Pseudopseudohypoparathyroidism	56
2209	P	PTT014	Pitt-Hopkins Syndrome	55
2210	P	HYD033	Hydrolethalus Syndrome 1	55
2211	P	SPN301	Spinocerebellar Ataxia 2	55
2212		KLP010	Klippel-Trenaunay-Weber Syndrome	55
2213		PSD012	Pseudoachondroplasia	55
2214	c	SPN294	Spinocerebellar Ataxia 1	55
2215	P	ISL078	Isolated Ectopia Lentis	55
2216		PLM070	Pulmonic Stenosis	55
2217		CNN011	Cenani-Lenz Syndactyly Syndrome	55
2218		ARS001	Aarskog-Scott Syndrome	54
2219		ABL002	Ablepharon-Macrostomia Syndrome	54
2220		VSC044	Visceral Myopathy	54
2221		CLB010	Coloboma of Macula	54
2222	c	LSS005	Lissencephaly 1	54
2223	P	CMR001	Camurati-Engelmann Disease	54
2224	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
2225	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	54
2226	c	CRN139	Cornelia De Lange Syndrome 1	54
2227		ENC044	Enchondromatosis, Multiple, Ollier Type	53
2228	P	ADM011	Adams-Oliver Syndrome	53
2229	c	CRB191	Cerebral Cavernous Malformations 2	53
2230	P	MRN003	Marinesco-Sjogren Syndrome	53
2231		MCN007	Meconium Aspiration Syndrome	53
2232		SMT008	Smith-Magenis Syndrome	53
2233	P	ORF001	Orofaciodigital Syndrome	53
2234	P	PRR016	Pierre Robin Syndrome	53
2235	c	ART144	Arthrogryposis, Distal, Type 1a	53
2236	P	MRD002	Marden-Walker Syndrome	53
2237		CRD180	Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma	52
2238		MLT135	Multiple Sulfatase Deficiency	52
2239	P	VNB005	Van Buchem Disease	52
2240	P	NLD001	Nail Disease	52
2241	P	CLS054	Classic Ehlers-Danlos Syndrome	52
2242		HYP134	Hypoparathyroidism-Retardation-Dysmorphism Syndrome	52
2243	P	SCL048	Sclerosteosis	52
2244		SCH016	Schimke Immunoosseous Dysplasia	52
2245	P	FBR025	Fibrochondrogenesis	52
2246		ANS023	Anus, Imperforate	51
2247		RST011	Restrictive Dermopathy, Lethal	51
2248		LPD016	Lipoid Proteinosis of Urbach and Wiethe	51
2249		MYL020	Myelomeningocele	51
2250	P	LSS002	Lissencephaly	51
2251		HMF006	Hemifacial Microsomia	51
2252		PHL006	Phelan-Mcdermid Syndrome	51
2253	c	SPN312	Spinocerebellar Ataxia 14	51
2254		OST032	Osteofibrous Dysplasia	51
2255		GLS018	Glass Syndrome	51
2256		PLY024	Polymicrogyria	50
2257	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	50
2258		MLB001	Mulibrey Nanism	50
2259	c	CHL116	Cholestasis, Intrahepatic, of Pregnancy, 1	50
2260		ECT026	Ectopic Pregnancy	50
2261	P	CRN276	Corneal Endothelial Dystrophy	50
2262		MLT134	Multiple Pterygium Syndrome, Lethal Type	50
2263	P	INT099	Intrahepatic Cholestasis of Pregnancy	50
2264	c	SPN309	Spinocerebellar Ataxia 6	50
2265	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	50
2266	c	SPN291	Spinocerebellar Ataxia 7	49
2267	P	PRX021	Proximal Symphalangism	49
2268		CSY001	C Syndrome	49
2269		CCH002	Coach Syndrome	49
2270		AGN003	Agenesis of the Corpus Callosum with Peripheral Neuropathy	49
2271		BWN001	Bowen-Conradi Syndrome	49
2272	c	SPL067	Split-Hand/foot Malformation 1	49
2273		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	49
2274		HMM003	Hemimegalencephaly	48
2275		SCR020	Sacral Defect with Anterior Meningocele	48
2276		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	48
2277		MCR165	Microphthalmia with Limb Anomalies	48
2278		SPN411	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	48
2279	c	SPN314	Spinocerebellar Ataxia 10	48
2280	c	DSB006	Desbuquois Dysplasia 1	48
2281	P	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	48
2282		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	48
2283	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	48
2284		SCH038	Schopf-Schulz-Passarge Syndrome	48
2285	c	ART155	Arthrogryposis, Distal, Type 2b1	47
2286	c	MYS051	Myasthenic Syndrome, Congenital, 5	47
2287	c	SPN296	Spinocerebellar Ataxia 17	47
2288	c	HYD064	Hydrocephalus, Congenital, 1	47
2289		HMF009	Hemifacial Hyperplasia	47
2290		MWT001	Mowat-Wilson Syndrome	47
2291	c	MCP044	Mucopolysaccharidosis, Type Iiib	47
2292	c	ART120	Arthrogryposis, Distal, Type 3	47
2293	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	47
2294	c	OST124	Osteogenesis Imperfecta, Type V	47
2295		CCN007	Cocoon Syndrome	46
2296	c	THY112	Thyroid Hormone Resistance, Generalized, Autosomal Dominant	46
2297	P	KLN006	Koolen-De Vries Syndrome	46
2298		MCR037	Macroglossia	46
2299		ISL121	Isolated Split Hand-Split Foot Malformation	46
2300		WDM005	Wiedemann-Rautenstrauch Syndrome	46
2301		INT276	Interatrial Communication	46
2302		CMP034	Complete Androgen Insensitivity Syndrome	46
2303	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	45
2304	c	SPN311	Spinocerebellar Ataxia 13	45
2305	c	SCL042	Sclerosteosis 2	45
2306		MCR216	Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation	45
2307	P	EPT020	Epithelioid Hemangioendothelioma	45
2308	P	ANX007	Anauxetic Dysplasia 1	45
2309		MRT007	Martsolf Syndrome	45
2310		PLY052	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	45
2311		LRY029	Laryngomalacia	45
2312		VLP002	Valproate Embryopathy	45
2313	c	CHR320	Chiari Malformation Type I	45
2314	c	XLN110	X-Linked Charcot-Marie-Tooth Disease	45
2315		GLD006	Goldberg-Shprintzen Syndrome	45
2316	c	CRN278	Craniosynostosis 1	45
2317		TSY002	Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations	45
2318	c	SPN308	Spinocerebellar Ataxia 28	44
2319		DXT002	Dextrocardia with Situs Inversus	44
2320	c	SPN100	Spinocerebellar Ataxia 27	44
2321	P	SMT022	Smith-Mccort Dysplasia 1	44
2322	c	SPN097	Spinocerebellar Ataxia 23	44
2323	P	ORF002	Orofacial Cleft	44
2324	P	FRN036	Frontonasal Dysplasia 1	44
2325		GRN013	Greenberg Dysplasia	44
2326	P	VHW001	Vohwinkel Syndrome	44
2327		HYD001	Hydranencephaly	44
2328	P	PRT042	Parietal Foramina	44
2329		LBS001	Lubs X-Linked Mental Retardation Syndrome	44
2330		CTY001	Cat Eye Syndrome	43
2331		KPS002	Kaposiform Hemangioendothelioma	43
2332	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	43
2333		HYP231	Hypothalamic Hamartomas	43
2334	P	RDL002	Radioulnar Synostosis	43
2335	c	BRT050	Bartter Syndrome, Type 2, Antenatal	43
2336	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	43
2337		ARC008	Auriculo-Condylar Syndrome	43
2338		JLL001	Jalili Syndrome	43
2339	P	CHN044	Chondrodysplasia Punctata Syndrome	42
2340		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	42
2341		MRG013	Mirage Syndrome	42
2342		STL007	Steel Syndrome	42
2343		NNC002	Nance-Horan Syndrome	42
2344		FBL002	Fibular Hypoplasia and Complex Brachydactyly	42
2345	P	SYN012	Synpolydactyly	42
2346		ACR012	Aicardi Syndrome	42
2347	c	SPN305	Spinocerebellar Ataxia 11	42
2348		MCR173	Microform Holoprosencephaly	42
2349	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	42
2350	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	42
2351	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	42
2352	P	CRC039	Coarctation of Aorta	42
2353	c	BRC081	Brachydactyly, Type C	42
2354	c	SPN103	Spinocerebellar Ataxia 31	42
2355	P	SPL061	Split Hand-Foot Malformation	42
2356		DND001	Dandy-Walker Syndrome	41
2357	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	41
2358		FRY002	Fryns Syndrome	41
2359	c	SPN106	Spinocerebellar Ataxia 5	41
2360	c	RBN017	Robinow Syndrome, Autosomal Dominant 2	41
2361	c	SPN290	Spinocerebellar Ataxia 15	41
2362	P	DFN036	Deafness, X-Linked 2	41
2363		OLV002	Oliver Syndrome	41
2364		DPH019	Diaphanospondylodysostosis	41
2365		SPN402	Spinal Muscular Atrophy, X-Linked 2	41
2366		KDS001	Kid Syndrome	41
2367	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	40
2368	c	SCL045	Sclerosteosis 1	40
2369	c	ATS018	Autosomal Recessive Alport Syndrome	40
2370	P	MLT065	Multicentric Osteolysis, Nodulosis, and Arthropathy	40
2371	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	40
2372	P	ANT061	Antenatal Bartter Syndrome	40
2373		FML091	Familial Tumoral Calcinosis	40
2374	c	SPN207	Spinocerebellar Ataxia, Autosomal Recessive 8	40
2375	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	40
2376		ART103	Arthrogryposis, Mental Retardation, and Seizures	39
2377	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	39
2378		CRN049	Craniolenticulosutural Dysplasia	39
2379	c	SPN265	Spinocerebellar Ataxia 36	39
2380	c	CRB094	Cerebral Cavernous Malformations 3	39
2381	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	39
2382		TTT001	Tatton-Brown-Rahman Syndrome	39
2383		SCH074	Schuurs-Hoeijmakers Syndrome	39
2384	P	CMM008	Communicating Hydrocephalus	39
2385		3MT013	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	39
2386		BNB002	Bainbridge-Ropers Syndrome	39
2387	c	SPN304	Spinocerebellar Ataxia 8	39
2388	c	SPL033	Split-Hand/foot Malformation 6	39
2389	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	39
2390		ISC020	Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension	38
2391	c	SPL024	Split-Hand/foot Malformation 3	38
2392	c	SPN283	Spinocerebellar Ataxia 37	38
2393		FML307	Familial Calcium Pyrophosphate Deposition	38
2394	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	38
2395		RPD005	Rapidly Involuting Congenital Hemangioma	38
2396	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	38
2397	c	ADM005	Adams-Oliver Syndrome 1	38
2398	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	37
2399	P	MNN007	Meningocele	37
2400	c	SPN293	Spinocerebellar Ataxia 12	37
2401		17B003	17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	37
2402	P	OVR075	Ovarian Dysgenesis 1	37
2403		AKL001	Au-Kline Syndrome	37
2404		CHN057	Chondrodysplasia, Grebe Type	37
2405		JJN004	Jejunal Atresia	37
2406	c	SPL070	Split-Hand/foot Malformation 2	37
2407	c	MCP048	Mucopolysaccharidosis, Type Ivb	37
2408		PLY117	Polymicrogyria, Bilateral Frontoparietal	37
2409		CHR382	Chromosome 18q Deletion Syndrome	37
2410	c	SPN101	Spinocerebellar Ataxia 29	37
2411	c	SPN273	Spinocerebellar Ataxia, Autosomal Recessive 16	37
2412	P	BRN042	Branchiootic Syndrome	36
2413		BLD129	Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	36
2414	c	SPL034	Split-Hand/foot Malformation 4	36
2415	c	LRS002	Larsen-Like Syndrome	36
2416		VRH001	Verheij Syndrome	36
2417		HMM004	Hamamy Syndrome	36
2418		HMM005	Hemimelia	36
2419	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	36
2420		46X012	46,xy Partial Gonadal Dysgenesis	36
2421		TRM011	Terminal Osseous Dysplasia	36
2422		SPN248	Spondyloepimetaphyseal Dysplasia, Sponastrime Type	36
2423		LNG040	Langer Mesomelic Dysplasia	36
2424		DST033	Distichiasis	35
2425		SPN362	Spondylometaphyseal Dysplasia, Sedaghatian Type	35
2426		RBN014	Robin Sequence with Cleft Mandible and Limb Anomalies	35
2427	c	SPN214	Spinocerebellar Ataxia, Autosomal Recessive 10	35
2428		CRP030	Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia	35
2429		CNG041	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	35
2430		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	35
2431	c	SPN095	Spinocerebellar Ataxia 19	35
2432	c	SPN325	Spinocerebellar Ataxia, Autosomal Recessive 20	35
2433	c	SPN266	Spinocerebellar Ataxia 35	35
2434		CHR525	Chromosome Xq26.3 Duplication Syndrome	35
2435		ODN009	Odontoonychodermal Dysplasia	35
2436		SYN106	Syndromic Craniosynostosis	35
2437	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	35
2438	c	ZMM002	Zimmermann-Laband Syndrome 1	35
2439		TMT003	Temtamy Syndrome	35
2440	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
2441		MCR183	Microcephaly-Capillary Malformation Syndrome	34
2442		CHR501	Chromosome 17q12 Deletion Syndrome	34
2443	c	SPL025	Split-Hand/foot Malformation 5	34
2444		CHR010	Chorioangioma	34
2445	c	SPN096	Spinocerebellar Ataxia 21	34
2446		IMM039	Immune Hydrops Fetalis	34
2447		PNC104	Pancreatic and Cerebellar Agenesis	34
2448		SPT023	Septate Uterus	34
2449	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	34
2450		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	34
2451	c	SPN381	Spinocerebellar Ataxia, Autosomal Recessive 21	34
2452	c	EPD071	Epidermolysis Bullosa Dystrophica, Autosomal Dominant	34
2453	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	34
2454		EMP011	Emphysema, Congenital Lobar	34
2455	c	SYM022	Symphalangism, Proximal, 1a	34
2456	c	PLY136	Polydactyly, Preaxial I	34
2457	c	PRT059	Parietal Foramina 1	34
2458		MNT302	Mental Retardation, X-Linked, Syndromic, Christianson Type	34
2459	P	ZMM001	Zimmermann-Laband Syndrome	34
2460	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	33
2461		PRS051	Parastremmatic Dwarfism	33
2462		MCR257	Microcephaly, Amish Type	33
2463	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	33
2464		TRC118	Trichodentoosseous Syndrome	33
2465	c	SPN200	Spinocerebellar Ataxia, Autosomal Recessive 2	33
2466	c	LSS010	Lissencephaly 4	33
2467	P	DXT004	Dextro-Looped Transposition of the Great Arteries	33
2468	c	ADM010	Adams-Oliver Syndrome 5	33
2469		OCL063	Oculopharyngodistal Myopathy	33
2470	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	33
2471	c	BRT052	Bartter Syndrome, Type 1, Antenatal	33
2472		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	33
2473	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	33
2474	c	PNT032	Pontocerebellar Hypoplasia, Type 9	32
2475		CHR387	Chromosome Xp21 Deletion Syndrome	32
2476	c	SPN099	Spinocerebellar Ataxia 26	32
2477	c	OMD001	Omodysplasia 1	32
2478		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	32
2479	c	SPN104	Spinocerebellar Ataxia 34	32
2480		TRN029	Transient Bullous Dermolysis of the Newborn	32
2481	c	CRT070	Cortical Dysplasia, Complex, with Other Brain Malformations 1	32
2482		NNN007	Non-Involuting Congenital Hemangioma	32
2483	c	SMT018	Smith-Mccort Dysplasia 2	32
2484		PLY161	Polymicrogyria, Bilateral Perisylvian, X-Linked	32
2485	c	SPN201	Spinocerebellar Ataxia, Autosomal Recessive 7	32
2486	c	RBN008	Rubinstein-Taybi Syndrome 2	32
2487	P	GNR008	Generalized Resistance to Thyroid Hormone	32
2488		CBB005	Cobblestone Lissencephaly	32
2489	c	SPN299	Spinocerebellar Ataxia 20	32
2490	c	ADM007	Adams-Oliver Syndrome 2	32
2491		TRC035	Tracheal Agenesis	32
2492	c	BRC047	Bruck Syndrome 1	31
2493	c	ATS015	Autosomal Dominant Alport Syndrome	31
2494		MLC004	Mulchandani-Bhoj-Conlin Syndrome	31
2495		CDL005	Caudal Duplication Anomaly	31
2496		CHR523	Chromosome 15q11.2 Deletion Syndrome	31
2497	c	SPN094	Spinocerebellar Ataxia 18	31
2498		ACR118	Aicar Transformylase/imp Cyclohydrolase Deficiency	31
2499	c	MLG145	Malignant Epithelioid Hemangioendothelioma	31
2500	P	ALB003	Albinism-Deafness Syndrome	31
2501		OCL034	Oculocerebrocutaneous Syndrome	31
2502		PRG023	Progeroid Short Stature with Pigmented Nevi	31
2503	c	THY114	Thyroid Hormone Resistance, Generalized, Autosomal Recessive	31
2504		MHR002	Mohr Syndrome	31
2505		CZC002	Czech Dysplasia	31
2506	c	SPN261	Spinocerebellar Ataxia, Autosomal Recessive 14	31
2507	P	BND014	Bone Development Disease	31
2508		ISL011	Isolated Aniridia	31
2509		SHR106	Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans	31
2510		VSC050	Vascular Malformation, Primary Intraosseous	31
2511		PNT009	Pontine Tegmental Cap Dysplasia	31
2512	c	SNG011	Singleton-Merten Syndrome 1	31
2513	c	SPN284	Spinocerebellar Ataxia 38	31
2514	c	SPN288	Spinocerebellar Ataxia, Autosomal Recessive 4	31
2515	c	ANT085	Anterior Segment Dysgenesis 5	31
2516	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	31
2517	c	DSB005	Desbuquois Dysplasia 2	30
2518	c	SPN383	Spinocerebellar Ataxia 42	30
2519	c	DFN105	Deafness, X-Linked 5	30
2520		MCR119	Microtia, Hearing Impairment, and Cleft Palate	30
2521		SYN116	Syndromic Obesity	30
2522		HYP679	Hypoglossia-Hypodactylia	30
2523	c	VHW003	Vohwinkel Syndrome, Variant Form	30
2524	P	SNG014	Singleton-Merten Syndrome	30
2525		CMP025	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	30
2526		PRM206	Premature Aging Syndrome, Penttinen Type	30
2527	c	SPN295	Spinocerebellar Ataxia, Autosomal Recessive 3	30
2528	P	ANG013	Angioma Serpiginosum	30
2529	c	CRN209	Cornelia De Lange Syndrome 5	30
2530	c	SPN258	Spinocerebellar Ataxia, Autosomal Recessive 13	30
2531	c	CRN281	Craniosynostosis 7	30
2532	c	SPN286	Spinocerebellar Ataxia 40	30
2533	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	29
2534	c	CRN134	Cornelia De Lange Syndrome 2	29
2535	c	MSC127	Muscular Dystrophy-Dystroglycanopathy , Type a, 9	29
2536	c	VNT028	Ventricular Septal Defect 1	29
2537		EPD072	Epidermolysis Bullosa Dystrophica, Pretibial	29
2538	c	KBK003	Kabuki Syndrome 2	29
2539	c	FBR029	Fibrochondrogenesis 1	29
2540	P	DSB002	Desbuquois Dysplasia	29
2541		UNV002	Univentricular Heart	29
2542		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	29
2543	c	CRN215	Cornelia De Lange Syndrome 4	28
2544		OSC001	Oeis Complex	28
2545	c	SPN105	Spinocerebellar Ataxia 4	28
2546		JHN004	Johnson Neuroectodermal Syndrome	28
2547	c	JVN034	Juvenile Polyposis of Infancy	28
2548	c	ORF048	Orofacial Cleft 1	28
2549	c	BRC045	Brachyolmia Type 3	28
2550		BRN055	Bronchogenic Cyst	28
2551	c	OVR076	Ovarian Dysgenesis 2	28
2552		LRY047	Laryngeal Abductor Paralysis	28
2553		DGT002	Digital Clubbing, Isolated Congenital	28
2554		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	28
2555		SYS006	Say Syndrome	28
2556		ART030	Aortic Arch Interruption	28
2557		CLV004	Calvarial Hyperostosis	28
2558	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	28
2559	c	SPN247	Spinocerebellar Ataxia Type 19/22	28
2560		PYR025	Pyruvate Dehydrogenase E2 Deficiency	28
2561	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	28
2562	c	ORF027	Orofacial Cleft 11	28
2563		CHR399	Chromosome 4q21 Deletion Syndrome	28
2564	c	PRT060	Parietal Foramina 2	28
2565		IRD003	Iridocorneal Endothelial Syndrome	28
2566	P	FML284	Familial Vesicoureteral Reflux	27
2567	c	SPN292	Spinocerebellar Ataxia, Autosomal Recessive 18	27
2568		CRL001	Cerulean Cataract	27
2569	c	TRC073	Treacher Collins Syndrome 2	27
2570		MSM016	Mesomelic Dysplasia, Kantaputra Type	27
2571	c	SPN298	Spinocerebellar Ataxia, Autosomal Recessive 17	27
2572		FMR016	Femur-Fibula-Ulna Syndrome	27
2573		NRN022	Neurenteric Cyst	27
2574		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	27
2575	c	CRN135	Cornelia De Lange Syndrome 3	27
2576	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	27
2577	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	27
2578		CYL001	Cayler Cardiofacial Syndrome	27
2579	c	OMD002	Omodysplasia 2	27
2580		MNT266	Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects	27
2581	c	CRB051	Cerebral Cavernous Malformation, Familial	27
2582	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	27
2583		CHN069	Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome	26
2584	c	MLG144	Malignant Hemangioma	26
2585	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
2586		ACR102	Acrorenal-Mandibular Syndrome	26
2587		HYP180	Hypertrichosis Lanuginosa Congenita	26
2588		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	26
2589		HYP561	Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness	26
2590	c	BSL030	Basal Encephalocele	26
2591	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
2592	c	SPN377	Spinocerebellar Ataxia, Autosomal Recessive 23	26
2593		CBB002	Cobb Syndrome	26
2594	c	LSS025	Lissencephaly 5	26
2595	c	PLM158	Palmoplantar Keratoderma and Congenital Alopecia 1	26
2596	c	SPN098	Spinocerebellar Ataxia 25	26
2597		HMF010	Hemifacial Microsomia with Radial Defects	26
2598		MCR093	Microtia-Anotia	25
2599	c	BRN128	Branchiootic Syndrome 3	25
2600	c	SPN272	Spinocerebellar Ataxia, Autosomal Recessive 15	25
2601		ATR055	Atrial Septal Aneurysm	25
2602	c	BRC099	Brachydactyly, Type A4	25
2603	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	25
2604		CRY030	Cryptophthalmos, Unilateral or Bilateral, Isolated	25
2605	c	MNT273	Mental Retardation, Autosomal Dominant 44	25
2606	c	SPN418	Spinocerebellar Ataxia 44	25
2607	c	CRN217	Craniosynostosis 3	25
2608	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	25
2609	c	ADM009	Adams-Oliver Syndrome 4	25
2610	c	SPN427	Spinocerebellar Ataxia 48	25
2611	c	SCK029	Seckel Syndrome 7	25
2612		CDG001	Cdags Syndrome	25
2613		ACR037	Acromegaloid Facial Appearance Syndrome	25
2614		CHR381	Chromosome 17q23.1-Q23.2 Deletion Syndrome	25
2615	c	ADM012	Adams-Oliver Syndrome 6	25
2616	c	DFN194	Deafness, X-Linked 1	25
2617	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	25
2618	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	25
2619	P	ACR093	Acrofrontofacionasal Dysostosis	25
2620	c	ADM008	Adams-Oliver Syndrome 3	25
2621		XLN235	X-Linked Intellectual Disability with Marfanoid Habitus	25
2622		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	25
2623		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	25
2624	c	TRC071	Treacher Collins Syndrome 3	25
2625	c	ORF028	Orofacial Cleft 10	24
2626	c	FNG009	Feingold Syndrome 2	24
2627	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	24
2628		CHR366	Chromosome 5p13 Duplication Syndrome	24
2629		TTR023	Tetraamelia-Multiple Malformations Syndrome	24
2630		ANN010	Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges	24
2631	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	24
2632	c	DFN147	Deafness, X-Linked 4	24
2633		DYS179	Dyssegmental Dysplasia, Rolland-Desbuquois Type	24
2634	P	ACR072	Acrorenal Syndrome	24
2635	c	MCR262	Microphthalmia, Syndromic 4	24
2636	c	SPN421	Spinocerebellar Ataxia 47	24
2637		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	24
2638	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	24
2639		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	24
2640		PNL023	Penile Agenesis	24
2641		RMR001	Ramer Ladda Syndrome	24
2642		XLN134	X-Linked Intellectual Disability, Siderius Type	24
2643		SHR097	Short Tarsus with Absence of Lower Eyelashes	24
2644		FBR088	Fibromatosis, Gingival, with Progressive Deafness	24
2645		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	24
2646		GNT043	Genitopalatocardiac Syndrome	24
2647	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	24
2648		BSL045	Basel-Vanagaite-Smirin-Yosef Syndrome	24
2649		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	24
2650	c	ART112	Arthrogryposis, Distal, Type 10	23
2651	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	23
2652	c	SPN376	Spinocerebellar Ataxia, Autosomal Recessive 24	23
2653	c	CRT067	Cortical Dysplasia, Complex, with Other Brain Malformations 2	23
2654		PSD030	Pseudodiastrophic Dysplasia	23
2655		KLB005	Kleeblattschaedel	23
2656	c	CRN256	Craniosynostosis 6	23
2657		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	23
2658		BRN129	Branchial Cleft Anomalies	23
2659		CHR379	Chromosome 15q26-Qter Deletion Syndrome	23
2660	c	MNT295	Mental Retardation, X-Linked, Syndromic 33	23
2661		NNN033	Noonan Syndrome and Noonan-Related Syndrome	23
2662	c	LSS035	Lissencephaly 8	23
2663	c	CRT073	Cortical Dysplasia, Complex, with Other Brain Malformations 5	23
2664	P	PLM064	Pulmonary Sequestration	23
2665		TTR027	Tetrasomy 15q26	23
2666		SPN359	Spondyloepimetaphyseal Dysplasia, Shohat Type	23
2667		IST007	Isotretinoin Embryopathy-Like Syndrome	23
2668		NVR001	Nievergelt Syndrome	23
2669		PRP090	Peripheral Dysostosis	23
2670	c	SPN372	Spinocerebellar Ataxia 43	23
2671		CHR159	Charlie M Syndrome	23
2672	c	OVR107	Ovarian Dysgenesis 4	23
2673		ALP085	Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	23
2674	c	SPN323	Spinocerebellar Ataxia 41	23
2675	P	ACR020	Acropectorovertebral Dysplasia	23
2676		ECT073	Ectodermal Dysplasia/short Stature Syndrome	23
2677		AXL004	Axial Mesodermal Dysplasia Spectrum	22
2678		MCR123	Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy	22
2679	c	CRT071	Cortical Dysplasia, Complex, with Other Brain Malformations 4	22
2680		CRN266	Craniofacial Dyssynostosis with Short Stature	22
2681		OCL070	Oculopalatocerebral Syndrome	22
2682		CGN001	Cogan-Reese Syndrome	22
2683	c	ANX008	Anauxetic Dysplasia 2	22
2684	c	CNG578	Congenital Hemangioma	22
2685		ART037	Arthrogryposis and Ectodermal Dysplasia	22
2686	P	OTP002	Otopalatodigital Spectrum Disorders	22
2687		CRN104	Craniotelencephalic Dysplasia	22
2688		MLR010	Melorheostosis with Osteopoikilosis	22
2689	c	ACR103	Acrofrontofacionasal Dysostosis 1	22
2690	c	VSC046	Vesicoureteral Reflux 8	22
2691	c	CNG514	Congenital Radioulnar Synostosis	22
2692	c	SPN419	Spinocerebellar Ataxia 45	22
2693		FCL067	Focal Facial Dermal Dysplasia 1, Brauer Type	22
2694	c	SPN384	Spinocerebellar Ataxia, Autosomal Recessive 26	22
2695	c	CRT068	Cortical Dysplasia, Complex, with Other Brain Malformations 3	22
2696		MLL022	Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly	22
2697		CRP034	Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia	22
2698	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	22
2699		MCD002	Mcdonough Syndrome	22
2700	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	22
2701		DRM041	Dermoid Cysts, Familial Frontonasal	22
2702	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	22
2703	c	ART156	Arthrogryposis, Distal, Type 2b2	22
2704		HYP524	Hypoinsulinemic Hypoglycemia with Hemihypertrophy	22
2705		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	22
2706		FCC002	Faciocardiorenal Syndrome	22
2707		ERY043	Euryblepharon	22
2708		MNS012	Monostotic Fibrous Dysplasia	22
2709	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	22
2710	c	FBR030	Fibrochondrogenesis 2	22
2711	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	21
2712	c	CRN216	Craniosynostosis 5	21
2713	c	CRT074	Cortical Dysplasia, Complex, with Other Brain Malformations 6	21
2714	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	21
2715	c	ART157	Arthrogryposis, Distal, Type 2b3	21
2716		PLR024	Pilarowski-Bjornsson Syndrome	21
2717	c	SPN431	Spinocerebellar Ataxia, Autosomal Recessive 27	21
2718	c	SPN420	Spinocerebellar Ataxia 46	21
2719	c	VSC020	Vesicoureteral Reflux 2	21
2720	P	SPN237	Spina Bifida Aperta	21
2721	c	ORF025	Orofacial Cleft 6	21
2722	c	OVR119	Ovarian Dysgenesis 7	21
2723		TBS009	Teebi-Shaltout Syndrome	21
2724		ACR019	Acropectoral Syndrome	21
2725	c	MRD001	Marden Walker Like Syndrome	21
2726		MTP004	Metaphyseal Acroscyphodysplasia	21
2727	c	SPN378	Spinocerebellar Ataxia, Autosomal Recessive 25	21
2728	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	21
2729		MNT254	Mental Retardation Syndrome, Mietens-Weber Type	21
2730	c	DFN276	Deafness, X-Linked 6	21
2731		MTR027	Mitral Atresia	21
2732		TRT015	Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia	21
2733		ATX037	Ataxia-Deafness-Retardation Syndrome	21
2734		NTH002	Nathalie Syndrome	21
2735		STR088	Stratton-Parker Syndrome	21
2736		PCM001	Pacman Dysplasia	21
2737	c	SPN313	Spinocerebellar Ataxia, Autosomal Recessive 6	21
2738	c	VSC025	Vesicoureteral Reflux 3	21
2739		MNT256	Mental Retardation, Buenos Aires Type	21
2740		ACR107	Acrofacial Dysostosis, Palagonia Type	21
2741	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	21
2742	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	21
2743		ACR101	Acrocraniofacial Dysostosis	20
2744	c	XLN004	X-Linked Nonsyndromic Deafness	20
2745	c	CRT087	Cortical Dysplasia, Complex, with Other Brain Malformations 9	20
2746		RDL014	Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation	20
2747	c	SYM019	Symphalangism, Proximal, 1b	20
2748	c	OVR115	Ovarian Dysgenesis 5	20
2749		ACR079	Acrodysostosis with Multiple Hormone Resistance	20
2750		EHL036	Ehlers-Danlos/osteogenesis Imperfecta Syndrome	20
2751	c	VNB004	Van Buchem Disease, Type 2	20
2752	c	OVR102	Ovarian Dysgenesis 3	20
2753	c	ORF014	Orofacial Cleft 5	20
2754	c	DFN370	Deafness, X-Linked 7	20
2755	c	ZMM003	Zimmermann-Laband Syndrome 2	20
2756		RRV005	Rare Vascular Tumor	20
2757		VGN031	Vaginal Atresia	20
2758		GRM003	German Syndrome	20
2759		CMB063	Combined Oxidative Phosphorylation Deficiency 25	20
2760	c	SNG012	Singleton-Merten Syndrome 2	20
2761	c	SPN102	Spinocerebellar Ataxia 30	20
2762		CLV012	Clavicle, Pseudarthrosis of, Congenital	20
2763		CRN076	Crane-Heise Syndrome	20
2764		MLP006	Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type	20
2765		PLV015	Pelvis-Shoulder Dysplasia	20
2766	c	ANT067	Anterior Segment Dysgenesis 8	20
2767		HRS002	Hersh Podruch Weisskopk Syndrome	20
2768		ARM006	Armfield X-Linked Mental Retardation Syndrome	20
2769	c	OVR120	Ovarian Dysgenesis 8	20
2770		FCL066	Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type	20
2771	c	CMR006	Camurati-Engelmann Disease, Type 2	20
2772		CHR369	Chromosome Xq28 Duplication Syndrome	20
2773		HMH003	Hemihyperplasia-Multiple Lipomatosis Syndrome	19
2774		SPN349	Spondylometaphyseal Dysplasia, Type A4	19
2775		BRC100	Brachydactyly, Combined B and E Types	19
2776		DBL007	Double Outlet Left Ventricle	19
2777		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	19
2778	c	BRN073	Branchiootic Syndrome 2	19
2779	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	19
2780		FCC003	Faciocardiomelic Dysplasia, Lethal	19
2781	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	19
2782		INF164	Infantile Bartter Syndrome with Sensorineural Deafness	19
2783		OPT077	Optic Disc Pit	19
2784	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	19
2785	c	ART060	Arthrogryposis, Distal, Type 1b