Fetal Diseases Category (5247 diseases)

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

#	Family	MCID	Name	MIFTS
1		FTL028	Fetal Retinoid Syndrome	15
2	P	PRG092	Pregnancy Loss, Recurrent 1	40
3	P	PRM252	Preimplantation Embryonic Lethality 1	21
4		TWN001	Twin-to-Twin Transfusion Syndrome	45
5		NCH001	Nuchal Bleb, Familial	25
6	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	43
7		CHL043	Childhood Embryonal Testis Carcinoma	8
8	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	27
9	P	CNT003	Central Nervous System Embryonal Carcinoma	10
10	P	EMB005	Embryonal Rhabdomyosarcoma	53
11		FTL004	Fetal Erythroblastosis	32
12		CHL026	Childhood Ovarian Embryonal Carcinoma	8
13	c	ADL007	Adult Central Nervous System Embryonal Carcinoma	7
14		FTL066	Fetal Akinesia Syndrome, X-Linked	14
15		FTL011	Fetal Aminopterin Syndrome	11
16		ACT091	Acitretin Embryopathy	8
17		CHL153	Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified	5
18		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	24
19	P	PRS062	Persistent Hyperplastic Primary Vitreous	44
20		GRM001	Germ Cell and Embryonal Cancer	32
21	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	23
22	c	PRM251	Preimplantation Embryonic Lethality 2	16
23		PDT006	Pediatric Cns Embryonal Cell Carcinoma	7
24		PRS010	Prostate Embryonal Rhabdomyosarcoma	31
25		ORB002	Orbit Embryonal Rhabdomyosarcoma	30
26		MTR016	Maternal Hyperphenylalaninemia	21
27		CRD031	Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification	8
28		EMB001	Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma	6
29		VLV013	Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma	5
30		NNC014	Non-Central Nervous System-Localized Embryonal Carcinoma	5
31		GCH018	Gaucher Disease, Perinatal Lethal	50
32		EMB002	Embryoma	38
33		ALC001	Alcohol-Related Birth Defect	35
34		PRM208	Parameningeal Embryonal Rhabdomyosarcoma	30
35		PRT001	Partial Fetal Alcohol Syndrome	23
36		FTL021	Fetal Macrosomia	42
37	c	NML025	Nemaline Myopathy 8	35
38		FTL005	Fetal Adenoma	21
39		PRV001	Parovarian Cyst	20
40		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	20
41		CCN012	Cocaine Antenatal Exposure	15
42		FTL048	Fetal Lung Interstitial Tumor	14
43		NNT022	Neonatal Ovarian Cyst	14
44		HYD069	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism	11
45	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	11
46		FTL020	Fetal Left Ventricular Aneurysm	9
47		CHL030	Childhood Botryoid Rhabdomyosarcoma	8
48		THY113	Thymic Aplasia with Fetal Death	8
49		RRG014	Rare Genetic Developmental Defect During Embryogenesis	5
50		MXD015	Mixed Type Rhabdomyosarcoma	5
51		SMT021	Somatomedin, Embryonic	4
52		FTL063	Fetal Nicotine Spectrum Disorder	3
53		OBS251	Obsolete: Embryonary Disorganization Syndrome	2
54		OBS547	Obsolete: Idiopathic Hydrops Fetalis	2
55		FTL017	Fetal Enterovirus Syndrome	2
56		FTL025	Fetal Parainfluenza Virus Type 3 Syndrome	1
57		FTL027	Fetal Phenothiazine Syndrome	1
58	c	FNC027	Fanconi Anemia, Complementation Group a	81
59		PFF001	Pfeiffer Syndrome	79
60		XRD010	Xeroderma Pigmentosum, Variant Type	73
61		VNH007	Von Hippel-Lindau Syndrome	73
62	P	JBR020	Joubert Syndrome 1	72
63	c	NRF024	Neurofibromatosis, Type I	71
64	P	OST001	Osteopetrosis	71
65		CNT097	Central Hypoventilation Syndrome, Congenital	70
66		CST001	Costello Syndrome	67
67	P	CRB048	Cerebral Cavernous Malformations	67
68	P	PSD087	Pseudoxanthoma Elasticum	67
69	P	CCK001	Cockayne Syndrome	66
70	P	SHW006	Shwachman-Diamond Syndrome 1	66
71	P	HYD006	Hydrocephalus	65
72		FCL009	Focal Dermal Hypoplasia	65
73		RBR001	Roberts Syndrome	65
74	P	HRP006	Herpes Simplex	65
75	P	CLD001	Cleidocranial Dysplasia	65
76	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	64
77		DGR001	Digeorge Syndrome	63
78		SPT006	Septooptic Dysplasia	63
79		CNT061	Conotruncal Heart Malformations	63
80	P	HYP055	Hypoplastic Left Heart Syndrome	62
81	P	BCK002	Beckwith-Wiedemann Syndrome	62
82		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	62
83		WLL001	Williams-Beuren Syndrome	62
84	P	HMN010	Hemangioma	61
85		CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	60
86		RGH009	Right Atrial Isomerism	60
87	P	STS008	Sotos Syndrome 1	60
88	P	ADM011	Adams-Oliver Syndrome	59
89	c	CLR131	Ciliary Dyskinesia, Primary, 1	58
90		MYR002	Mayer-Rokitansky-Kuster-Hauser Syndrome	58
91	P	EHL001	Ehlers-Danlos Syndrome	57
92		MBS002	Moebius Syndrome	57
93	c	PRX059	Peroxisome Biogenesis Disorder 1a	57
94	c	GLC097	Glaucoma 3, Primary Congenital, a	56
95	c	CRP023	Carpenter Syndrome 1	56
96	c	BRC078	Brachydactyly, Type A1	56
97		CHR101	Char Syndrome	56
98		TRC109	Tracheoesophageal Fistula with or Without Esophageal Atresia	55
99		ANN002	Anencephaly	55
100		ANS023	Anus, Imperforate	55
101	P	FNG006	Feingold Syndrome 1	55
102		CLF004	Cleft Lip/palate	54
103	P	DXT004	Dextro-Looped Transposition of the Great Arteries	54
104		OCL020	Ocular Cicatricial Pemphigoid	54
105		FRY006	Fryns Microphthalmia Syndrome	54
106	P	HYP050	Hyperinsulinemic Hypoglycemia	54
107		MLT135	Multiple Sulfatase Deficiency	53
108		RST011	Restrictive Dermopathy, Lethal	53
109		GLS018	Glass Syndrome	53
110		NNT012	Neonatal Jaundice	53
111		BRN003	Branchiooculofacial Syndrome	52
112	c	LSS006	Lissencephaly 2	52
113		MGL038	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	52
114		OLG003	Oligohydramnios	52
115		TRC062	Tricuspid Atresia	52
116	c	JBR041	Joubert Syndrome 3	52
117	c	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	51
118		CHR005	Chorioamnionitis	51
119		SCR020	Sacral Defect with Anterior Meningocele	51
120	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	50
121	P	SMP003	Simpson-Golabi-Behmel Syndrome	50
122	c	BRC081	Brachydactyly, Type C	50
123	c	BRD012	Bardet-Biedl Syndrome 11	50
124	c	BRC079	Brachydactyly, Type A2	50
125	P	NNT009	Neonatal Diabetes Mellitus	50
126		PLC008	Placenta Disease	49
127		RNP003	Renpenning Syndrome 1	49
128		ECT026	Ectopic Pregnancy	49
129		CHR222	Chromosome 1p36 Deletion Syndrome	49
130	P	HLL001	Hallermann-Streiff Syndrome	48
131	P	PRX021	Proximal Symphalangism	48
132	c	BRD020	Bardet-Biedl Syndrome 8	48
133		SHR098	Short-Rib Thoracic Dysplasia 12	48
134		PLC007	Placental Abruption	48
135	c	HLP028	Holoprosencephaly 5	48
136	c	OPT050	Opitz Gbbb Syndrome, Type Ii	47
137	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	47
138	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	47
139		BHR002	Bohring-Opitz Syndrome	47
140		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	47
141	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	47
142		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	47
143	c	HYD064	Hydrocephalus, Congenital, 1	47
144	c	WRD020	Waardenburg Syndrome, Type 4a	47
145	P	MCL001	Mucolipidosis	47
146		ISL121	Isolated Split Hand-Split Foot Malformation	46
147		HMH004	Hemihyperplasia, Isolated	46
148		HMF009	Hemifacial Hyperplasia	46
149		PLY012	Polyhydramnios	46
150	c	MCK033	Meckel Syndrome, Type 4	46
151	c	SCP001	Sc Phocomelia Syndrome	46
152		HYP059	Hypertelorism, Microtia, Facial Clefting Syndrome	46
153	c	HLP025	Holoprosencephaly 9	46
154		HYP231	Hypothalamic Hamartomas	46
155	P	HYP347	Hypotonia-Cystinuria Syndrome	46
156	P	OCY003	Oocyte Maturation Defect 1	45
157	c	JBR015	Joubert Syndrome 6	45
158		RNS001	Raine Syndrome	45
159	c	JBR025	Joubert Syndrome 17	45
160		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	45
161	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	45
162		MCR216	Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation	45
163	c	HLP029	Holoprosencephaly 4	45
164		PLC001	Placenta Accreta	44
165	c	BRD033	Bardet-Biedl Syndrome 13	44
166	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	44
167	P	PRT042	Parietal Foramina	44
168		HRL004	Hurler-Scheie Syndrome	43
169		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	43
170	c	46X001	46 Xy Gonadal Dysgenesis	43
171		SCH071	Schaaf-Yang Syndrome	43
172		KPS002	Kaposiform Hemangioendothelioma	43
173	P	SYN012	Synpolydactyly	43
174	P	CHN044	Chondrodysplasia Punctata Syndrome	43
175	c	LPD019	Lipodystrophy, Partial, Acquired	43
176	c	ANT071	Anterior Segment Dysgenesis 4	42
177		INT276	Interatrial Communication	42
178		MYH012	Myhre Syndrome	42
179	c	JBR014	Joubert Syndrome 9	42
180	c	TRN032	Transient Neonatal Diabetes Mellitus	42
181		CHR659	Chromosome 22q11.2 Duplication Syndrome	42
182	P	MCR137	Microphthalmia, Isolated 2	41
183		CLF056	Cleft Lip with or Without Cleft Palate	41
184		BNB002	Bainbridge-Ropers Syndrome	41
185	c	SPL024	Split-Hand/foot Malformation 3	41
186	c	PST041	Posterior Urethral Valves	41
187	c	WRB003	Warburg Micro Syndrome 2	41
188	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	41
189	P	KLF001	Kleefstra Syndrome	40
190	c	BRD048	Bardet-Biedl Syndrome 18	40
191	P	TRC031	Trichorhinophalangeal Syndrome	40
192	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	39
193	c	MCR114	Microphthalmia, Isolated 3	39
194	P	CRN074	Coronary Artery Aneurysm	39
195		CHR390	Chromosome 14q11-Q22 Deletion Syndrome	39
196	c	FNC056	Fanconi Anemia, Complementation Group V	39
197	c	CTR118	Cataract 14, Multiple Types	39
198		48X005	48,xyyy	39
199	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	39
200		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	39
201		THR017	Thoracoabdominal Syndrome	39
202	c	SPL034	Split-Hand/foot Malformation 4	39
203	c	AML057	Amelogenesis Imperfecta, Type Iiia	39
204	c	TRN038	Transposition of the Great Arteries, Dextro-Looped 1	38
205		CHR543	Chromosome 2q37 Deletion Syndrome	38
206	c	CNG033	Congenital Syphilis	38
207		RPD005	Rapidly Involuting Congenital Hemangioma	38
208	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	38
209	c	MYS078	Myasthenic Syndrome, Congenital, 14	38
210		CHR211	Chromosome 18p Deletion Syndrome	38
211		SCR035	Sacral Agenesis with Vertebral Anomalies	38
212	c	DYS146	Dystonia 24	38
213	c	MYS056	Myasthenic Syndrome, Congenital, 17	38
214		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	38
215	P	OMD003	Omodysplasia	37
216		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	37
217	c	SPL033	Split-Hand/foot Malformation 6	37
218		PLC009	Placenta Praevia	37
219		CHR502	Chromosome 17q12 Duplication Syndrome	37
220		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	37
221		HMM004	Hamamy Syndrome	37
222	c	AML020	Amelogenesis Imperfecta, Type Iv	36
223	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	36
224	c	CLR134	Ciliary Dyskinesia, Primary, 3	36
225	c	CTR122	Cataract 5, Multiple Types	36
226	c	BRC062	Brachydactyly, Type D	36
227	c	CRN109	Cranioectodermal Dysplasia 2	36
228	c	SCK011	Seckel Syndrome 5	36
229	c	CTR115	Cataract 16, Multiple Types	36
230		CLF028	Cleft Soft Palate	36
231	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	36
232		PTC001	Potocki-Shaffer Syndrome	36
233	c	JBR037	Joubert Syndrome 26	36
234	c	MYS076	Myasthenic Syndrome, Congenital, 8	36
235		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	36
236	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	35
237		ELS006	Elsahy-Waters Syndrome	35
238		PLT007	Palatopharyngeal Incompetence	35
239	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	35
240		CHR387	Chromosome Xp21 Deletion Syndrome	35
241	P	MTP005	Metaphyseal Anadysplasia	34
242	P	ENT005	Entropion	34
243	c	FNC062	Fanconi Anemia, Complementation Group S	34
244		MDL020	Midline Interhemispheric Variant of Holoprosencephaly	34
245		MCR183	Microcephaly-Capillary Malformation Syndrome	34
246		PRT049	Partial Deletion of Y	34
247		TRG019	Trigonocephaly with Short Stature and Developmental Delay	34
248		EMN001	Emanuel Syndrome	34
249	c	WRD026	Waardenburg Syndrome, Type 2c	34
250	c	DMN021	Diamond-Blackfan Anemia 6	34
251	c	PK3005	Pik3ca-Related Overgrowth Syndrome	34
252	c	CTR129	Cataract 31, Multiple Types	34
253	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	34
254		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	34
255		FCL090	Facial Cleft	33
256	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	33
257	c	PLY136	Polydactyly, Preaxial I	33
258		BRC004	Brachydactyly-Syndactyly Syndrome	33
259	P	ACR072	Acrorenal Syndrome	33
260		PYR012	Pyruvate Dehydrogenase E1-Beta Deficiency	33
261	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	33
262	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
263		HYP223	Hypoplastic Right Heart Syndrome	33
264	c	PLY149	Polydactyly, Preaxial Iv	33
265	c	SYM022	Symphalangism, Proximal, 1a	33
266		WTT002	Witteveen-Kolk Syndrome	33
267	c	MCR252	Microphthalmia, Syndromic 5	32
268	c	BRC060	Brachydactyly, Type E2	32
269	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	32
270		CHR346	Chromosome 22q11.2 Deletion Syndrome, Distal	32
271	c	46X049	46,xy Sex Reversal 2	32
272	c	PRM022	Primary Syphilis	32
273	c	CRP022	Carpenter Syndrome 2	32
274		48X003	48,xxyy Syndrome	31
275	P	DSB002	Desbuquois Dysplasia	31
276	c	ANT085	Anterior Segment Dysgenesis 5	31
277	c	BRC099	Brachydactyly, Type A4	31
278		ANM001	Anemia of Prematurity	31
279		INF021	Infant Gynecomastia	31
280		CBB005	Cobblestone Lissencephaly	31
281		DSN002	Desanto-Shinawi Syndrome	31
282		ANR010	Aneurysm of Sinus of Valsalva	31
283	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	31
284	c	RNG008	Ring Chromosome 13	31
285		PLM058	Pulmonary Atresia with Intact Ventricular Septum	30
286	c	RNG005	Ring Chromosome 10	30
287	c	RNG018	Ring Chromosome 22	30
288	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	30
289		CMP025	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	30
290		SDD002	Sudden Infant Death with Dysgenesis of the Testes Syndrome	30
291		TTR014	Tetrasomy 18p	30
292		DGT009	Digitotalar Dysmorphism	30
293	c	PTT030	Pitt-Hopkins-Like Syndrome 2	30
294		CHR386	Chromosome 6pter-P24 Deletion Syndrome	30
295		CHR582	Chromosome 3q29 Duplication Syndrome	30
296	c	ANT083	Anterior Segment Dysgenesis 7	30
297		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	29
298		TTR012	Tetrasomy 9p	29
299	c	AML018	Amelogenesis Imperfecta, Type Ic	29
300		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	29
301		CHR524	Chromosome 16p13.3 Duplication Syndrome	29
302	P	NNT006	Neonatal Myasthenia Gravis	29
303		NNN033	Noonan Syndrome and Noonan-Related Syndrome	29
304		CRN264	Craniosynostosis with Fibular Aplasia	29
305		RHM015	Rhombencephalosynapsis	29
306		MSM016	Mesomelic Dysplasia, Kantaputra Type	29
307	P	PST016	Posterior Polar Cataract	29
308		FRS007	Frias Syndrome	29
309		PSD046	Pseudotrisomy 13 Syndrome	29
310		OCC011	Occipital Encephalocele	28
311	c	HYP511	Hypogonadotropic Hypogonadism 15 with or Without Anosmia	28
312		WLD004	Wildervanck Syndrome	28
313		HYP728	Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia	28
314		MCR321	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation	28
315		CLF046	Cleft Lip/palate with Abnormal Thumbs and Microcephaly	28
316		CRB215	Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay	28
317		CRL006	Caroli Disease, Isolated	28
318		SKR001	Skraban-Deardorff Syndrome	28
319		CHR379	Chromosome 15q26-Qter Deletion Syndrome	28
320	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	28
321	P	TRS029	Trisomy 1q	27
322		BRN055	Bronchogenic Cyst	27
323		FRN022	Frontofacionasal Dysplasia	27
324	c	TYP003	Type I Ehlers-Danlos Syndrome	27
325	c	HYP552	Hypogonadotropic Hypogonadism 6 with or Without Anosmia	27
326		CHR586	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb	27
327	c	PRX046	Peroxisome Biogenesis Disorder 7a	27
328	c	RNG010	Ring Chromosome 15	27
329		MSC016	Mosaic Trisomy 14	27
330		ECT089	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia	27
331	c	MRG010	Meier-Gorlin Syndrome 3	27
332		CHR399	Chromosome 4q21 Deletion Syndrome	27
333		CLV004	Calvarial Hyperostosis	27
334		MCR310	Microgastria-Limb Reduction Defects Association	27
335		NRN022	Neurenteric Cyst	27
336		CHR268	Chromosome 8q Duplication	27
337	c	LTH047	Lethal Congenital Contracture Syndrome 3	27
338		DPH012	Diphallia	27
339		NNT005	Neonatal Candidiasis	27
340		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	27
341	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	27
342		ASS004	Aase-Smith Syndrome I	26
343		RCM003	Recombinant Chromosome 8 Syndrome	26
344		CHR190	Chromosome 12p Duplication	26
345		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	26
346		BLP041	Blepharochalasis and Double Lip	26
347		CDG001	Cdags Syndrome	26
348	c	46X017	46,xy Sex Reversal 6	26
349		CRN266	Craniofacial Dyssynostosis with Short Stature	26
350	c	HYP557	Hypogonadotropic Hypogonadism 19 with or Without Anosmia	26
351		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	26
352	c	ATR047	Atrioventricular Septal Defect 2	26
353		PGD001	Pagod Syndrome	26
354	c	MCK028	Meckel Syndrome 13	26
355		ISL087	Isolated Oxycephaly	26
356		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	26
357	c	DMN022	Diamond-Blackfan Anemia 9	26
358	c	CFF012	Coffin-Siris Syndrome 7	26
359	c	JBR043	Joubert Syndrome 32	26
360		PNL023	Penile Agenesis	26
361		PNS015	Penoscrotal Transposition	25
362		UTR054	Uterine Hypoplasia	25
363	c	JBR021	Joubert Syndrome 18	25
364	c	RNG017	Ring Chromosome 21	25
365	c	BRN128	Branchiootic Syndrome 3	25
366	c	DMN018	Diamond-Blackfan Anemia 5	25
367	c	PTN012	Patent Ductus Arteriosus 3	25
368	c	MRG011	Meier-Gorlin Syndrome 4	25
369	c	TRS012	Trisomy 22	25
370	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	25
371		DYS179	Dyssegmental Dysplasia, Rolland-Desbuquois Type	25
372		XLN086	X-Linked Ehlers-Danlos Syndrome	25
373	c	PRX052	Peroxisome Biogenesis Disorder 13a	25
374		KLB005	Kleeblattschaedel	25
375		CMP097	Complex Chromosomal Rearrangement	25
376		CHR266	Chromosome 8p23.1 Deletion	25
377	c	HTR018	Heterotaxy, Visceral, 7, Autosomal	24
378	c	RNG013	Ring Chromosome 18	24
379	c	RTS002	Ritscher-Schinzel Syndrome 2	24
380		MCR067	Microcoria, Congenital	24
381		SCH055	Schilbach-Rott Syndrome	24
382		CGN001	Cogan-Reese Syndrome	24
383		CHR369	Chromosome Xq28 Duplication Syndrome	24
384		AXL004	Axial Mesodermal Dysplasia Spectrum	24
385	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	24
386		DFF022	Diffuse Neonatal Hemangiomatosis	24
387		NVR001	Nievergelt Syndrome	24
388		PLY135	Polydactyly, Postaxial, with Progressive Myopia	24
389	c	VND004	Van Der Woude Syndrome 2	24
390		SPN365	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	23
391	c	SCK038	Seckel Syndrome 10	23
392	c	ACR103	Acrofrontofacionasal Dysostosis 1	23
393	c	FCL056	Facial Paresis, Hereditary Congenital, 3	23
394		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	23
395	c	CNG100	Congenital Herpes Simplex	23
396		RGH006	Right Aortic Arch	23
397		HYP212	Hypomandibular Faciocranial Dysostosis	23
398	c	BLP049	Blepharocheilodontic Syndrome 2	23
399		PLY116	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis	23
400		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	23
401		PRP090	Peripheral Dysostosis	23
402	c	JBR038	Joubert Syndrome 27	23
403	c	EPL243	Epileptic Encephalopathy, Early Infantile, 77	23
404	c	EPL239	Epileptic Encephalopathy, Early Infantile, 74	23
405	c	RNG021	Ring Chromosome 5	23
406	P	ART034	Aortopulmonary Window	23
407	c	OVR107	Ovarian Dysgenesis 4	23
408		CHR620	Chromosome 16p11.2 Deletion Syndrome, 220-Kb	23
409		TTR021	Tetrasomy 21	23
410		FNT003	Fountain Syndrome	23
411	c	MGL029	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	23
412		CLB011	Coloboma of Macula with Type B Brachydactyly	22
413	c	OMP009	Omphalocele, Autosomal	22
414	c	SYM019	Symphalangism, Proximal, 1b	22
415		INT337	Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies	22
416	c	HTR023	Heterotaxy, Visceral, 6, Autosomal	22
417		SYM024	Symphalangism, Distal	22
418		SCH025	Schisis Association	22
419	c	PNT052	Pontocerebellar Hypoplasia, Type 12	22
420		ZCH002	Zechi-Ceide Syndrome	22
421	c	HLP022	Holoprosencephaly 8	22
422		8PN001	8p Inverted Duplication/deletion Syndrome	22
423		LMB014	Limb-Body Wall Complex	22
424		PHK008	Phakomatosis Cesioflammea	22
425	c	SPN375	Spinocerebellar Ataxia, Autosomal Recessive 22	22
426		PRP101	Peripheral Pulmonary Stenosis	22
427		LRY028	Laryngocele	22
428	c	CWD005	Cowden Syndrome 4	21
429		HMH003	Hemihyperplasia-Multiple Lipomatosis Syndrome	21
430		MSM019	Mesomelic Dysplasia, Savarirayan Type	21
431	c	MTP014	Metaphyseal Anadysplasia 2	21
432		TTR018	Tetragametic Chimerism	21
433	P	PTR018	Paternal Uniparental Disomy of Chromosome 6	21
434	c	HTR020	Heterotaxy, Visceral, 8, Autosomal	21
435		ATK002	Atkin-Flaitz Syndrome	21
436	c	MLT078	Multiple Synostoses Syndrome 3	21
437		PLV015	Pelvis-Shoulder Dysplasia	21
438		MNS012	Monostotic Fibrous Dysplasia	21
439		ANL024	Anal Atresia, Hypospadias, and Penoscrotal Inversion	21
440		2Q3005	2q31.1 Microdeletion Syndrome	21
441		ULN005	Ulna and Fibula, Hypoplasia of	21
442	c	ATS310	Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related	21
443		CHR507	Chromosome Xq27.3-Q28 Duplication Syndrome	21
444		PLM116	Pulmonary Artery Hypoplasia	21
445	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	21
446		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	20
447	c	OVR115	Ovarian Dysgenesis 5	20
448	c	EXS021	Exostoses, Multiple, Type Iii	20
449		HYP524	Hypoinsulinemic Hypoglycemia with Hemihypertrophy	20
450	c	ATR064	Atrioventricular Septal Defect 3	20
451		CHR368	Chromosome Xp11.23-P11.22 Duplication Syndrome	20
452		CMP039	Camptodactyly 1	20
453	c	RNG025	Ring Chromosome 9	20
454		CRT061	Cor Triatriatum Dexter	20
455		SPN349	Spondylometaphyseal Dysplasia, Type A4	20
456		ANT065	Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis	20
457		BRC100	Brachydactyly, Combined B and E Types	20
458		CHR416	Chromosome 17q Deletion	20
459	c	SPN259	Spinocerebellar Ataxia 32	20
460	c	ATP003	Atp6v0a2-Related Cutis Laxa	20
461	c	ACR108	Acrocephalopolysyndactyly Type Iv	20
462		CRB164	Cerebrooculonasal Syndrome	20
463		RTH002	Rutherfurd Syndrome	20
464		CRN311	Coronary Ostial Stenosis or Atresia	20
465		CRB161	Cerebellar Ataxia and Ectodermal Dysplasia	20
466		CNG009	Congenital Aortic Valve Stenosis	20
467	c	ART159	Aortic Valve Disease 3	20
468		VRR008	Verrucous Hemangioma	20
469		TRC114	Trichodental Dysplasia	20
470		DST059	Distal Trisomy 17q	20
471	c	OVR120	Ovarian Dysgenesis 8	20
472		PLM067	Pulmonary Valves Agenesis	20
473		FCD002	Faciodigitogenital Syndrome, Autosomal Recessive	19
474		SBR011	Subaortic Stenosis--Short Stature Syndrome	19
475	c	CRN279	Cornea Plana 1, Autosomal Dominant	19
476		ODN020	Odontoma-Dysphagia Syndrome	19
477		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	19
478		DYS134	Dysspondyloenchondromatosis	19
479		NSL020	Nasal Glial Heterotopia	19
480	c	OCY002	Oocyte Maturation Defect 2	19
481	c	RNG006	Ring Chromosome 11	19
482		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	19
483		CNG284	Congenital Pseudoarthrosis of the Tibia	19
484	c	OCY005	Oocyte Maturation Defect 4	19
485	c	CTR160	Cataract 45	19
486		MLT148	Multiple Pterygium Syndrome, X-Linked	19
487		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	19
488	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	19
489		JNT004	Joint Laxity, Short Stature, and Myopia	19
490		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	19
491		16P004	16p13.11 Microduplication Syndrome	19
492		16P003	16p13.11 Microdeletion Syndrome	19
493	c	MTR083	Mitral Valve Prolapse 3	19
494	c	46X060	46,xx Disorder of Sex Development	19
495	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	19
496		MSC019	Mosaic Trisomy 7	19
497	c	ATS454	Autosomal Trisomy	19
498		SBR012	Subaortic Stenosis, Membranous	18
499		ALN003	Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus	18
500		EDN001	Edinburgh Malformation Syndrome	18
501	c	MCR363	Microcephaly 23, Primary, Autosomal Recessive	18
502		LMB057	Lumbosacral Spina Bifida Aperta	18
503		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	18
504	c	MLG144	Malignant Hemangioma	18
505	c	DMN049	Diamond-Blackfan Anemia 20	18
506		NNR005	Non-Rhizomelic Chondrodysplasia Punctata	18
507	c	UNP012	Uniparental Disomy of Chromosome 7	18
508	c	DNC008	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	18
509	c	OCY007	Oocyte Maturation Defect 6	18
510		CHR614	Chromosome 16p13.2 Deletion Syndrome	18
511		17Q012	17q24.2 Microdeletion Syndrome	18
512	c	DMN039	Diamond-Blackfan Anemia 17	18
513		FRY007	Fryns Macrocephaly	18
514		UNL015	Unilateral Aplasia of the Mullerian Ducts	18
515		BLT023	Bilateral Acute Depigmentation of the Iris	18
516		UPP007	Upper Thoracic Spina Bifida Cystica	18
517		CRV061	Cervicothoracic Spina Bifida Cystica	18
518		UPP008	Upper Thoracic Spina Bifida Aperta	18
519		THR085	Thoracolumbosacral Spina Bifida Aperta	18
520		MCR317	Macrophthalmia, Colobomatous, with Microcornea	18
521		ABS016	Absence of the Pulmonary Artery	18
522		FCL064	Facial Dysmorphism with Multiple Malformations	17
523		PLY133	Polysyndactyly with Cardiac Malformation	17
524		MMB012	Membranous Cranial Ossification, Delayed	17
525		EPB002	Epiblepharon	17
526		DYS180	Dyschondrosteosis and Nephritis	17
527		1QD001	1q Duplications	17
528		13Q001	13q12.3 Microdeletion Syndrome	17
529		ATR019	Atrial Septal Defect Sinus Venosus	17
530	c	MTR062	Maternal Uniparental Disomy of Chromosome 4	17
531		PLY134	Polydactyly, Postaxial, with Dental and Vertebral Anomalies	17
532	c	OCY006	Oocyte Maturation Defect 5	17
533		ACR078	Acral Self-Healing Collodion Baby	17
534	c	RNG014	Ring Chromosome 19	17
535		HMR016	Humeroradioulnar Synostosis	17
536		BKS002	Book Syndrome	17
537	c	RNG011	Ring Chromosome 16	17
538	c	OCY004	Oocyte Maturation Defect 3	17
539		21Q001	21q22.11q22.12 Microdeletion Syndrome	17
540		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	17
541		XP2001	Xp22.3 Microdeletion Syndrome	17
542		GNC010	Genochondromatosis	17
543		SXC007	Sex-Chromosome Anomaly	17
544	P	DNC006	Diencephalic-Mesencephalic Junction Dysplasia	17
545		SPN353	Spondylometaphyseal Dysplasia, X-Linked	17
546		DRL001	Dural Sinus Malformation	17
547	P	CNG600	Congenital Arteriovenous Fistula	16
548	c	MTR061	Maternal Uniparental Disomy of Chromosome 6	16
549	c	CRN068	Corneal Endothelial Dystrophy Type 2	16
550		20Q003	20q11.2 Microdeletion Syndrome	16
551		CRV066	Cervical Aortic Arch	16
552		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	16
553		MCR358	Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	16
554		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	16
555	c	GLC052	Glaucoma 3, Primary Congenital, C	16
556		NND006	Non-Distal Monosomy 20q	16
557		PTN009	Patent Urachus	16
558		CMM018	Common Mesentery	16
559		CNG243	Congenital Subglottic Stenosis	16
560		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
561	c	MTR067	Maternal Uniparental Disomy of Chromosome 16	16
562		ISL133	Isolated Epispadias	16
563	c	CMP088	Camptodactyly Syndrome, Guadalajara, Type Iii	16
564		ESS005	Essential Iris Atrophy	16
565		PRN057	Porencephaly, Cerebellar Hypoplasia, and Internal Malformations	16
566	c	PLY144	Polydactyly, Postaxial, Type A7	16
567		TRS011	Trisomy 2 Mosaicism	16
568	c	PTR011	Paternal Uniparental Disomy of Chromosome 1	16
569	c	PLY182	Polydactyly, Postaxial, Type A9	16
570		MSC079	Mosaic Trisomy 1	16
571		PFF010	Pfeiffer-Palm-Teller Syndrome	16
572		CYS047	Cystic Fibrosis, Modifier of, 1	16
573		THM021	Thumb Deformity and Alopecia	16
574	c	PRT113	Parietal Foramina 3	16
575		LRS009	Larsen-Like Syndrome, Lethal Type	16
576		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	16
577		6Q1002	6q16 Microdeletion Syndrome	16
578		ECT087	Ectodermal Dysplasia, Trichoodontoonychial Type	16
579		ATR084	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	16
580	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	16
581		8P1001	8p11.2 Deletion Syndrome	15
582		ODN021	Odontotrichoungual-Digital-Palmar Syndrome	15
583	c	RNG031	Ring Chromosome Y Syndrome	15
584		CLB008	Coloboma of Eye Lens	15
585		ISL134	Isolated Craniosynostosis	15
586		11Q001	11q22.2q22.3 Microdeletion Syndrome	15
587	c	ANG028	Angioma Serpiginosum, Autosomal Dominant	15
588		DYS049	Dysplastic Cortical Hyperostosis	15
589		XLN232	X-Linked Alport Syndrome-Diffuse Leiomyomatosis	15
590		XP2002	Xp22.13p22.2 Duplication Syndrome	15
591		MDL016	Midline Cervical Cleft	15
592		PTS017	Ptosis, Strabismus, and Ectopic Pupils	15
593		TTR010	Tetramelic Monodactyly	15
594	c	OCY008	Oocyte Maturation Defect 7	15
595	c	PST093	Posterior Hypospadias	15
596		5Q3002	5q31.3 Microdeletion Syndrome	15
597		EXT058	Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly	15
598		PRT161	Partial Deletion of the Short Arm of Chromosome 3	15
599		RDL028	Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema	15
600		MCR242	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	15
601		20P001	20p12.3 Microdeletion Syndrome	15
602		TRN046	Transverse Vaginal Septum	15
603		ISL120	Isolated Cerebellar Agenesis	15
604		ESP040	Esophageal Duplication Cyst	15
605	c	HYD068	Hydatidiform Mole, Recurrent, 4	15
606		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	15
607		MSC080	Mosaic Trisomy 12	14
608		DLT013	Deletion 5q35	14
609		SPN435	Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia	14
610	c	DMN048	Diamond-Blackfan Anemia 19	14
611	c	HTR012	Heterotaxy, Visceral, 3, Autosomal	14
612		RDL031	Radial Aplasia, X-Linked	14
613		THR030	Thoraco Abdominal Enteric Duplication	14
614	c	VSC043	Vesicoureteral Reflux 6	14
615	c	HYP545	Hypospadias 3, Autosomal	14
616		ATR018	Atrial Septal Defect Ostium Primum	14
617	c	MTR060	Maternal Uniparental Disomy of Chromosome 9	14
618		AST010	Astley-Kendall Syndrome	14
619		ART130	Arthrogryposis with Hyperkeratosis	14
620		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	14
621		LNG081	Longitudinal Vaginal Septum	14
622		HLL014	Hallux Varus and Preaxial Polysyndactyly	14
623		PLT010	Pili Torti Onychodysplasia	14
624		PRT237	Partial Deletion of the Long Arm of Chromosome 16	14
625		16P005	16p11.2p12.2 Microduplication Syndrome	14
626		MSC078	Mosaic Trisomy 17	14
627		PRM187	Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	14
628	c	UNP007	Uniparental Disomy of Chromosome 6	13
629		10Q002	10q22.3q23.3 Microduplication Syndrome	13
630	P	ANT062	Anterior Urethral Valve	13
631		MCR186	Microtriplication 11q24.1	13
632	P	LRY049	Laryngotracheoesophageal Cleft Type 4	13
633		ANN015	Anonychia with Flexural Pigmentation	13
634		CNG587	Congenital Limb Malformation	13
635	c	CHN027	Chondrodysplasia Lethal Recessive	13
636		NND003	Non-Distal Trisomy 10q	13
637		PST104	Postaxial Oligodactyly, Tetramelic	13
638		XLN133	X-Linked Intellectual Disability, Shashi Type	13
639		HRR003	Herrmann Opitz Craniosynostosis	13
640		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	13
641		5Q3001	5q35 Microduplication Syndrome	13
642		KLL013	Kallmann Syndrome-Heart Disease Syndrome	13
643		PRT184	Partial Deletion of the Long Arm of Chromosome 11	13
644		PRT206	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9	13
645	c	CTR025	Cataract, Total Congenital	13
646		CRN087	Craniomicromelic Syndrome	13
647		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	13
648		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	13
649		PRT178	Partial Deletion of the Long Arm of Chromosome 5	13
650		DST052	Distal 7q11.23 Microduplication Syndrome	13
651		MSC084	Mosaic Genome-Wide Paternal Uniparental Disomy	13
652		CRN204	Craniofacial Conodysplasia	13
653		BLT009	Bilateral Generalized Polymicrogyria	13
654		CHN047	Chondroectodermal Dysplasia with Night Blindness	13
655		ACH028	Acheiria	13
656		PRC041	Pericardial and Diaphragmatic Defect	13
657		ISL128	Isolated Microspherophakia	12
658		XSM001	X Small Rings	12
659		46X015	46,xy Ovotesticular Disorder of Sex Development	12
660		ACR121	Acromelic Dysplasia	12
661		NND005	Non-Distal Trisomy 13q	12
662	c	TRS033	Trisomy 18-Like Syndrome	12
663		LTR017	Lateral Facial Cleft	12
664	c	VSC040	Vesicoureteral Reflux 4	12
665		HYP852	Hypocalcemic Rickets	12
666		GZR001	Guizar Vasquez Sanchez Manzano Syndrome	12
667		GLS016	Glossopalatine Ankylosis	12
668		CNG357	Congenital Symblepharon	12
669	c	PRM168	Primary Syringomyelia	12
670		NND004	Non-Distal Monosomy 10q	12
671		LWR017	Lower Limb Malformation-Hypospadias Syndrome	12
672	c	SCL053	Sclerocornea, Autosomal Dominant	12
673		XLN156	X-Linked Intellectual Disability, Golabi-Ito-Hall Type	12
674		ONY006	Onychodystrophy-Anonychia	11
675	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	11
676		CRN194	Cranial Meningocele	11
677		XLN142	X-Linked Intellectual Disability, Stevenson Type	11
678	c	ATS448	Autosomal Recessive Brachyolmia	11
679		CNG282	Congenital Knee Dislocation	11
680		HLP030	Holoprosencephaly-Caudal Dysgenesis Syndrome	11
681		TNN014	Tunnel Subaortic Stenosis	11
682		PLR014	Pleuro-Pericardial Cyst	11
683		FRY005	Fryns Smeets Thiry Syndrome	11
684		MTP011	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	11
685	c	CHR161	Chiari Malformation Type 3	11
686	c	ZYG007	Zygodactyly Type 3	11
687		PTS015	Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome	11
688		INT294	Intellectual Disability-Short Stature-Hypertelorism Syndrome	11
689		MSC090	Mosaic Trisomy 3	11
690		46X040	46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome	11
691		CRV060	Cervical Dermoid Cyst	11
692	c	ISL040	Isolated Focal Cortical Dysplasia Type Ia	11
693		MSC088	Mosaic Trisomy 5	11
694		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	11
695	c	WCR002	Wac-Related Intellectual Disability	11
696		SPN150	Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism	10
697		CNT077	Central Bilateral Macrogyria	10
698		SYM014	Symbrachydactyly of Hands and Feet	10
699		SYN148	Syndromic Aniridia	10
700		CNG279	Congenital Pseudoarthrosis of the Ulna	10
701		ABN012	Abnormal Origin of Right or Left Pulmonary Artery from the Aorta	10
702		PRT169	Partial Deletion of the Short Arm of Chromosome 11	10
703	c	CHR201	Chromosome 16, Uniparental Disomy	10
704		LWR014	Lower Limb Hypertrophy	10
705	c	ATS065	Autosomal Dominant Coarctation of Aorta	10
706		PRT144	Partial Deletion of Chromosome 2	10
707		APD003	Apodia	10
708		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	10
709		DGS007	Digestive Duplication	10
710		PRM302	Paramedian Facial Cleft	10
711	c	CHR232	Chromosome 21, Uniparental Disomy	10
712		PRT200	Partial Duplication of the Long Arm of Chromosome 2	10
713		4P1001	4p16.3 Microduplication Syndrome	10
714		CRD171	Cordiform Uterus	10
715		ISL022	Isolated Congenital Nasal Pyriform Aperture Stenosis	10
716		DST089	Distal Trisomy 3p	10
717	c	EDR001	Eed-Related Overgrowth	10
718		XLN147	X-Linked Intellectual Disability, Stoll Type	10
719		PRT164	Partial Deletion of the Short Arm of Chromosome 8	10
720		PRC042	Parachute Tricuspid Valve	10
721	c	CNG249	Congenital Pulmonary Venous Return Anomaly	9
722		FCL058	Facial Arteriovenous Malformation	9
723		BLR023	Biliary Atresia with Splenic Malformation Syndrome	9
724		PRT204	Partial Duplication of the Long Arm of Chromosome 4	9
725		CNG278	Congenital Pseudoarthrosis of the Radius	9
726		9Q3001	9q31.1q31.3 Microdeletion Syndrome	9
727		PRT215	Partial Duplication of the Short Arm of Chromosome 2	9
728		CLF055	Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome	9
729		FBL017	Fibular Dimelia-Diplopodia Syndrome	9
730		DST085	Distal Trisomy 2q	9
731	c	ZYG006	Zygodactyly Type 2	9
732		PRT187	Partial Duplication of Chromosome X	9
733		DST081	Distal Trisomy 11q	9
734		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	9
735		2P2002	2p21 Microdeletion Syndrome Without Cystinuria	9
736		DST076	Distal Trisomy 13q	9
737	c	ATS360	Autosomal Recessive Intellectual Disability 58	9
738		ERL041	Early-Onset Zonular Cataract	9
739		DBR003	Dobrow Syndrome	9
740	c	UNP010	Uniparental Disomy of Chromosome 13	9
741		PRT145	Partial Deletion of Chromosome 3	9
742		PRT167	Partial Deletion of the Short Arm of Chromosome 9	9
743		MLT171	Multiple Epiphyseal Dysplasia and Pseudoachondroplasia	9
744		CNG564	Congenital Respiratory-Biliary Fistula	9
745		PRT236	Partial Deletion of the Long Arm of Chromosome 15	9
746		PRT179	Partial Deletion of the Long Arm of Chromosome 6	9
747		ECT107	Ectasia of the Left Atrial Appendage	9
748	c	DXT005	Dextro-Looped Transposition of the Great Arteries 3	9
749		MLH001	Melhem Fahl Syndrome	9
750		ISL047	Isolated Unilateral Hemispheric Cerebellar Hypoplasia	8
751		BLK004	Blake Pouch Cyst	8
752		PRT231	Partial Duplication of Chromosome 4	8
753		PRT151	Partial Deletion of Chromosome 16	8
754		CNG359	Congenitally Uncorrected Transposition of the Great Arteries with Coarctation	8
755		SYN127	Syndromic Ectopia Lentis	8
756	c	UNP009	Uniparental Disomy of Chromosome 20	8
757		PRT230	Partial Duplication of Chromosome 3	8
758		CNG517	Congenital Agenesis of the Scrotum	8
759		PRT166	Partial Deletion of the Short Arm of Chromosome 10	8
760		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	8
761		CHN052	Choanal Atresia, Bilateral	8
762		PRT208	Partial Duplication of the Short Arm of Chromosome 8	8
763		PRT239	Partial Deletion of the Long Arm of Chromosome 18	8
764		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	8
765		INT305	Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	8
766		PRT225	Partial Duplication of Chromosome 17	8
767		ERL042	Early-Onset Partial Cataract	8
768		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	8
769	c	CRB078	Cerebrocostomandibular-Like Syndrome	8
770	c	PRT182	Partial Monosomy of the Long Arm of Chromosome 9	8
771		PRT207	Partial Duplication of the Short Arm of Chromosome 7	8
772		PRT238	Partial Deletion of the Long Arm of Chromosome 17	8
773		SVR046	Severe Lateral Tibial Bowing with Short Stature	8
774		CNG318	Congenital Genu Recurvatum	8
775		DST087	Distal Trisomy 7p	8
776		PRT159	Partial Deletion of the Short Arm of Chromosome 1	8
777		CRN208	Coronary Sinus Atresia	8
778		ATR096	Atrioventricular Valve Anomaly	8
779	c	TTR026	Tetralogy of Fallot Syndrome, Autosomal Recessive	7
780		SPN082	Spina Bifida Hypospadias	7
781		PRT226	Partial Duplication of Chromosome 16	7
782		PRT234	Partial Duplication of Chromosome 7	7
783	c	SLV015	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11	7
784		PRT197	Partial Duplication of the Long Arm of Chromosome 15	7
785		PRT203	Partial Duplication of the Long Arm of Chromosome 7	7
786		DST084	Distal Trisomy 8q	7
787		SPN437	Spondylodysplastic Dysplasia	7
788	c	ATS403	Autosomal Dominant Intellectual Disability 40	7
789		SYN147	Syndromic Ankyloblepharon Filiforme Adnatum	7
790	c	CNG348	Congenital Sialidosis Type 2	7
791		PRT181	Partial Deletion of the Long Arm of Chromosome 8	7
792		MLT170	Multiple Congenital Anomalies/dysmorphic Syndrome	7
793		PRT146	Partial Deletion of Chromosome 8	7
794		PRT223	Partial Duplication of Chromosome 11	7
795		TRG018	Trigonocephaly-Broad Thumbs Syndrome	7
796		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	7
797		CNG334	Congenital Esophageal Diverticulum	7
798	c	BCK015	Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11	7
799	c	LRY050	Laryngotracheoesophageal Cleft Type 2	7
800	c	ATS410	Autosomal Dominant Intellectual Disability 49	7
801		PRT216	Partial Trisomy of Chromosome 20	7
802		DYR002	Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion	7
803		LNG112	Longitudinal Limb Defect	7
804		URG006	Urogenital Tract Malformation	7
805		CNG107	Congenital Mitral Malformation	6
806		MLF005	Malformation Syndrome with Short Stature	6
807		PRT143	Partial Deletion of Chromosome 5	6
808	c	PRT173	Partial Monosomy of the Short Arm of Chromosome 20	6
809		OKH001	Okihiro Syndrome Due to a Point Mutation	6
810	c	MTR079	Maternal Uniparental Disomy of Chromosome 13	6
811		ECS003	Eec Syndrome and Related Disorders	6
812		PRT193	Partial Duplication of the Long Arm of Chromosome 11	6
813		PRT150	Partial Deletion of the Long Arm of Chromosome 12	6
814		PRT242	Partial Deletion of the Long Arm of Chromosome 21	6
815		DST058	Distal Monosomy 12p	6
816		ISL153	Isolated Congenital Aglossia	6
817		TRC084	Tricuspid Valve Agenesis	6
818		DST075	Distal Trisomy 16q	6
819		CHR512	Cheirospondyloenchondromatosis	6
820	c	HYD017	Hydrocephalus Autosomal Recessive	6
821		PRT175	Partial Deletion of the Long Arm of Chromosome 2	6
822		UPP009	Upper Limb Hypertrophy	6
823		1P3003	1p35.2 Microdeletion Syndrome	6
824		7Q3001	7q31 Microdeletion Syndrome	6
825		PRT148	Partial Deletion of Chromosome 6	6
826		DST054	Distal 17p13.3 Microdeletion Syndrome	6
827		ATY043	Atypical Norrie Disease Due to Xp11.3 Microdeletion	6
828	c	LRY048	Laryngotracheoesophageal Cleft Type 0	6
829		DST088	Distal Trisomy 1p36	6
830		PRT139	Partial Bilateral Aplasia of the Mullerian Ducts	5
831		PRT158	Partial Deletion of the Short Arm of Chromosome 2	5
832		PRT172	Partial Deletion of the Short Arm of Chromosome 19	5
833		PRT209	Partial Duplication of the Short Arm of Chromosome 17	5
834		JNT005	Joint Formation Defects	5
835		AML036	Amelia of Lower Limb	5
836		EXT047	Extralobar Congenital Pulmonary Sequestration	5
837		PRT098	Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome	5
838		DBL016	Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy	5
839		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	5
840		DST077	Distal Trisomy 22q	5
841	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	5
842	c	PRM303	Primary Early-Onset Glaucoma	5
843	c	SCN083	Secondary Early-Onset Glaucoma	5
844	c	YCH004	Y Chromosomal Anomaly	5
845	c	LSS021	Lissencephaly with Cerebellar Hypoplasia Type a	5
846		ISL044	Isolated Arhinencephaly	5
847		PRT155	Partial Deletion of Chromosome 17	5
848		3Q2005	3q26q27 Microdeletion Syndrome	5
849		SYN096	Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication	5
850		PRT249	Partial Autosomal Monosomy	5
851	c	OCL037	Oculodentodigital Dysplasia Dominant	5
852		CNG601	Congenital Tricuspid Malformation	5
853		CNG438	Congenital Disorder of Glycosylation with Developmental Anomaly	5
854		UTR055	Uterine Cervical Aplasia and Agenesis	5
855	c	PRT194	Partial Trisomy of the Long Arm of Chromosome 9	5
856		PRT227	Partial Deletion of the Long Arm of Chromosome 22	5
857	c	ISL039	Isolated Focal Cortical Dysplasia Type Ic	5
858		GLB027	Global Cerebellar Malformation	5
859		ISL056	Isolated Lissencephaly Type 1 Without Known Genetic Defects	5
860		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	5
861		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	5
862		ISL117	Isolated Congenital Radial Head Dislocation	5
863		HMR036	Humero-Ulnar Synostosis, Unilateral	5
864		HMR037	Humero-Ulnar Synostosis, Bilateral	5
865		STR109	Structural Developmental Eye Defect	5
866		CNG353	Congenital Partial Agenesis of Pericardium	5
867		NNT001	Neonatal Infective Mastitis	5
868		SYN097	Syndromic Urogenital Tract Malformation	5
869	c	LSS020	Lissencephaly with Cerebellar Hypoplasia Type B	5
870	c	CHR251	Chromosome 5, Uniparental Disomy	4
871		CLS021	Closed Iniencephaly	4
872		LWM001	Low Implantation of Placenta	4
873		PRT201	Partial Duplication of the Long Arm of Chromosome 3	4
874		CNG577	Congenital Deformities of Limbs	4
875		CNT081	Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome	4
876		MCR190	Macrodactyly of Toes, Unilateral	4
877		CDL007	Caudal Regression-Sirenomelia Spectrum	4
878		46X076	46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen	4
879	c	PTR022	Paternal Uniparental Disomy of Chromosome 7	4
880		NND009	Non-Distal Trisomy 9q	4
881		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	4
882		CNG391	Congenital Pseudoarthrosis of the Limbs	4
883		PRT212	Partial Duplication of the Short Arm of Chromosome 16	4
884		PRT220	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5	4
885	P	ISL048	Isolated Cerebellar Vermis Agenesis	4
886		ISL051	Isolated Partial Cerebellar Vermis Agenesis	4
887		ABN008	Abnormal Origin of the Pulmonary Artery	4
888		BCK010	Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion	4
889		CNG270	Congenital Primary Megaureter, Obstructed Form	4
890		46X066	46,xy Disorder of Sex Development of Endocrine Origin	4
891		CNG569	Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature	4
892		APR011	Aprosencephaly/atelencephaly Spectrum	4
893		ISL130	Isolated Congenital Entropion	4
894		UNL009	Unilateral Congenital Megacalycosis	4
895		DPH030	Diaphragmatic or Abdominal Wall Malformation	4
896		ATR095	Atrial Appendage Anomaly	4
897		MLF008	Malformation of the Cerebellar Hemispheres	4
898	c	ACS002	Acsl4-Related Intellectual Disability	4
899	c	ARX002	Arx-Related Intellectual Disability	4
900		MDN006	Median Cleft of the Upper Lip and Maxilla	4
901		PRT233	Partial Duplication of Chromosome 6	4
902		PRT243	Partial Duplication of the Short Arm of Chromosome 1	4
903		46X070	46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess	4
904		MCR187	Macrodactyly of Fingers, Bilateral	4
905		LTH049	Lethal Multiple Congenital Anomalies/dysmorphic Syndrome	4
906		MYB004	Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	4
907		CRN316	Craniosynostosis-Microretrognathia-Several Intellectual Disability Syndrome	4
908		46X078	46,xx Disorder of Sex Development Induced by Androgens Excess	4
909		ENC035	Encircling Double Aortic Arch	4
910		SYN157	Syndromic Respiratory or Mediastinal Malformation	4
911	c	SYN028	Syngnathia Multiple Anomalies	3
912		SYN111	Syndrome with a Cerebellar Malformation As Major Feature	3
913		SPR109	Supratip Dysplasia	3
914		DYS207	Dysostosis with Brachydactyly Without Extraskeletal Manifestations	3
915		ECT112	Ectrodactyly with and Without Other Manifestations	3
916		OVR117	Overgrowth Syndrome with 2q37 Translocation	3
917		CNG493	Congenital Generalized Hypercontractile Muscle Stiffness Syndrome	3
918		ISL132	Isolated Megalopapilla	3
919		ANT090	Anterior Segment Developmental Abnormality with Extraocular Manifestations	3
920		ANM023	Anomaly of the Tricuspid Subvalvular Apparatus	3
921		STR075	Straddling or Overriding Tricuspid Valve	3
922		BCK016	Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication	3
923		PTL012	Patellar Dysostosis	3
924		NNS060	Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy	3
925		STR076	Straddling and/or Overriding Mitral Valve	3
926		PLM119	Pulmonary Artery Coming from Patent Ductus Arteriosus	3
927		CNG360	Congenital Unguarded Mitral Orifice	3
928		CNG361	Congenital Supravalvular Mitral Ring	3
929		ANT094	Anterior Segment Developmental Anomaly Without Extraocular Manifestations	3
930		HRT042	Heart Position Anomaly	3
931		ANM025	Anomaly of the Mitral Subvalvular Apparatus	3
932		PRR036	Pierre Robin Syndrome Associated with Collagen Disease	3
933		PRR039	Pierre Robin Syndrome Associated with Branchial Archs Anomalies	3
934	P	YCH005	Y Chromosome Number Anomaly	3
935		DPH029	Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome	3
936	c	TTL013	Total Autosomal Trisomy	3
937		SXC005	Sex-Chromosome Number Anomaly	3
938		SXC006	Sex-Chromosome Structural Anomaly	3
939	P	CHR690	Chromosome Y Structural Anomaly	3
940	c	CHR691	Chromosome X Structural Anomaly	3
941		NNS062	Non-Syndromic Limb Malformation	3
942		NNS065	Non-Syndromic Diaphragmatic or Abdominal Wall Malformation	3
943		PNN007	Pinnae and External Auditory Canal Anomaly	3
944		SYN110	Syndrome with Microcephaly As Major Feature	3
945		CNG585	Congenital Primary Megaureter, Refluxing and Obstructed Form	3
946		NNS052	Non-Syndromic Urogenital Tract Malformation of Male and Female	2
947		SYN107	Syndrome or Malformation Associated with Head and Neck Malformations	2
948		ORM003	Oromandibular-Limb Anomalies Syndrome	2
949		PLY186	Polysomy of X Chromosome	2
950		XCH001	X Chromosome Number Anomaly with Male Phenotype	2
951		CHR693	Chromosomal Disease with Overgrowth	2
952		NNS066	Non-Syndromic Visceral Malformation	2
953		NNS069	Non-Syndromic Esophageal Malformation	2
954		EMB004	Embryonal Carcinoma	57
955	c	WLM018	Wilms Tumor 5	62
956	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	45
957		EMB006	Embryonal Testis Carcinoma	31
958		OVR050	Ovarian Embryonal Carcinoma	35
959		INT041	Intratubular Embryonal Carcinoma	28
960		DFN191	Deafness, Congenital Heart Defects, and Posterior Embryotoxon	20
961	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	15
962	c	WLM013	Wilms Tumor 1	65
963	P	EPN001	Ependymoblastoma	45
964	c	WLM011	Wilms Tumor 6	37
965	P	HRD009	Hereditary Wilms' Tumor	31
966	c	WLM005	Wilms Tumor 2	28
967	c	WLM015	Wilms Tumor 3	19
968	c	WLM017	Wilms Tumor 4	18
969	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	15
970	c	ADL045	Adult Ependymoblastoma	14
971	c	FML094	Familial Wilms Tumor 2	9
972		TRT001	Teratocarcinoma	46
973	P	END039	Endodermal Sinus Tumor	42
974	c	ADL047	Adult Endodermal Sinus Tumor	9
975	P	LFT003	Left Ventricular Noncompaction	55
976		FTL012	Fetal and Neonatal Alloimmune Thrombocytopenia	44
977	c	PRS122	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	38
978	P	BTR001	Botryoid Rhabdomyosarcoma	35
979	c	LFT021	Left Ventricular Noncompaction 1	35
980	c	LFT017	Left Ventricular Noncompaction 8	27
981	c	LFT018	Left Ventricular Noncompaction 10	24
982	c	LFT020	Left Ventricular Noncompaction 7	20
983	c	LFT011	Left Ventricular Noncompaction 2	17
984	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	17
985	c	PRS137	Persistent Hyperplastic Primary Vitreous, Autosomal Dominant	12
986	c	ADL031	Adult Botryoid Rhabdomyosarcoma	7
987	P	PTN014	Patent Ductus Arteriosus 1	60
988	c	HYD046	Hydatidiform Mole, Recurrent, 1	59
989		GRM005	Germ Cell Cancer	47
990		EMB007	Embryonal Sarcoma	41
991		CNT115	Central Nervous System Embryonal Tumor	23
992		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	22
993		EMB017	Embryonal Tumor of Neuroepithelial Tissue	3
994		NNR010	Non-Rare Developmental Anomalies During Embryogenesis	3
995	P	ALG028	Alagille Syndrome 1	73
996		LPD012	Lipoid Congenital Adrenal Hyperplasia	71
997		SMT004	Smith-Lemli-Opitz Syndrome	69
998	P	HLP001	Holoprosencephaly	68
999	P	MLG056	Malignant Hyperthermia	67
1000	P	ANG001	Angelman Syndrome	67
1001	P	BRD002	Bardet-Biedl Syndrome	66
1002	c	MCL013	Mucolipidosis Iv	64
1003	c	ART101	Aortic Valve Disease 2	63
1004	P	RNL100	Renal Hypodysplasia/aplasia 1	63
1005		KRN002	Kearns-Sayre Syndrome	63
1006	P	ART062	Arthrogryposis, Renal Dysfunction, and Cholestasis 1	62
1007		HLT001	Holt-Oram Syndrome	62
1008	c	BRN108	Branchiootic Syndrome 1	61
1009	P	MCR256	Microphthalmia, Syndromic 9	61
1010		OST024	Osteoporosis-Pseudoglioma Syndrome	60
1011	P	TXP001	Toxoplasmosis	60
1012		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	60
1013		HJD001	Hajdu-Cheney Syndrome	60
1014		CFF002	Coffin-Lowry Syndrome	60
1015	P	PTT014	Pitt-Hopkins Syndrome	60
1016	P	SYP003	Syphilis	59
1017	P	RBL001	Rubella	58
1018	P	INT070	Intestinal Obstruction	58
1019	P	HYP535	Hypogonadotropic Hypogonadism 7 with or Without Anosmia	58
1020		ANG020	Angiosarcoma	58
1021		SPR004	Supravalvular Aortic Stenosis	58
1022	c	LYS021	Loeys-Dietz Syndrome 3	58
1023	c	FRS014	Fraser Syndrome 1	58
1024		NWB001	Newborn Respiratory Distress Syndrome	58
1025	c	HYP292	Hypophosphatasia, Infantile	57
1026		BRN056	Bronchopulmonary Dysplasia	57
1027		ENC044	Enchondromatosis, Multiple, Ollier Type	57
1028	c	MYT020	Myotonic Dystrophy 2	57
1029	c	AML044	Amelogenesis Imperfecta, Type Ig	56
1030	c	CRN139	Cornelia De Lange Syndrome 1	56
1031	P	MTC069	Mitochondrial Disorders	56
1032	P	PSD015	Pseudohypoparathyroidism	56
1033	P	VNB005	Van Buchem Disease	55
1034	P	MRG008	Meier-Gorlin Syndrome 1	55
1035		CNN011	Cenani-Lenz Syndactyly Syndrome	54
1036		GST009	Gastroschisis	54
1037	P	BRC006	Brachydactyly	53
1038	c	HLP023	Holoprosencephaly 1	53
1039	P	KRT028	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	53
1040		MWT001	Mowat-Wilson Syndrome	52
1041	c	EPD076	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	52
1042		OCC006	Occipital Horn Syndrome	52
1043	P	VSC013	Visceral Heterotaxy	52
1044		ABL002	Ablepharon-Macrostomia Syndrome	52
1045	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	52
1046		PYL017	Pyle Disease	52
1047		JHN001	Johanson-Blizzard Syndrome	52
1048		MLL018	Miller-Dieker Lissencephaly Syndrome	52
1049	P	TRT010	Teratoma	51
1050		NRL002	Neurilemmomatosis	51
1051		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	51
1052		VTR016	Vater/vacterl Association	51
1053	c	LTH007	Lethal Congenital Contracture Syndrome 1	51
1054	c	LYS017	Loeys-Dietz Syndrome 4	51
1055	c	RBN022	Robinow Syndrome, Autosomal Recessive 1	51
1056	c	HLP024	Holoprosencephaly 2	50
1057		CHN065	Choanal Atresia, Posterior	50
1058	P	CNG003	Congenital Dyserythropoietic Anemia	50
1059	c	CNG216	Congenital Hydrocephalus	50
1060	P	OVR082	Overgrowth Syndrome	50
1061		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	50
1062	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	50
1063		SPN405	Spondyloepiphyseal Dysplasia Tarda, X-Linked	49
1064	P	MYT002	Myotonic Dystrophy	49
1065		SHR044	Short Rib-Polydactyly Syndrome	49
1066		47X002	47,xyy	49
1067		PLM041	Pulmonary Valve Stenosis	49
1068		CNG069	Congenital Cytomegalovirus	49
1069	c	ART061	Arthrogryposis, Distal, Type 2a	49
1070		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	49
1071		HND004	Hand-Foot-Genital Syndrome	49
1072	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	48
1073		CRD002	Cri-Du-Chat Syndrome	48
1074	c	SCL045	Sclerosteosis 1	48
1075	P	BNM029	Bone Mineral Density Quantitative Trait Locus 15	48
1076	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	48
1077	c	SCK009	Seckel Syndrome 1	47
1078	c	HLP026	Holoprosencephaly 3	47
1079	P	AML002	Amelogenesis Imperfecta	47
1080	P	CPL014	Capillary Malformation-Arteriovenous Malformation 1	47
1081		WRS002	Warsaw Breakage Syndrome	47
1082		TTR011	Tetraploidy	47
1083	P	PRS049	Persistent Mullerian Duct Syndrome	47
1084	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	47
1085	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	46
1086		HYR002	Hoyeraal Hreidarsson Syndrome	46
1087		CTS011	Cutis Marmorata Telangiectatica Congenita	46
1088	c	LYM145	Lymphatic Malformation 5	46
1089		MCR037	Macroglossia	45
1090	c	SPN312	Spinocerebellar Ataxia 14	45
1091		TSY002	Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations	45
1092	c	XFP001	Xfe Progeroid Syndrome	45
1093		GLD006	Goldberg-Shprintzen Syndrome	45
1094	P	SXD002	Sex Development Disorder	45
1095	c	HYP549	Hypogonadotropic Hypogonadism 5 with or Without Anosmia	45
1096	c	CRN278	Craniosynostosis 1	45
1097	c	MCK012	Meckel Syndrome, Type 6	45
1098		DBT090	Diabetes and Deafness, Maternally Inherited	45
1099	c	WRD024	Waardenburg Syndrome, Type 4c	45
1100	c	HLP016	Holoprosencephaly 11	44
1101	c	HYP793	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	44
1102	c	RNL122	Renal Hypodysplasia/aplasia 3	44
1103	c	ACH033	Achondrogenesis, Type Ia	44
1104		TRC097	Tracheomalacia	44
1105		LRY022	Laryngoonychocutaneous Syndrome	44
1106		OHD005	Ohdo Syndrome, Sbbys Variant	44
1107		MRG013	Mirage Syndrome	44
1108	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	44
1109		SCH030	Schneckenbecken Dysplasia	44
1110		BRT059	Bartsocas-Papas Syndrome	43
1111		ACR002	Acrocapitofemoral Dysplasia	43
1112	P	ORF002	Orofacial Cleft	43
1113	c	ATS393	Autosomal Recessive Cutis Laxa Type I	43
1114	P	SYN075	Syngnathia	43
1115		WYR002	Weyers Acrofacial Dysostosis	43
1116		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	43
1117		SCH037	Schinzel-Giedion Midface Retraction Syndrome	43
1118		BNT003	Bent Bone Dysplasia Syndrome	43
1119		TRP009	Triple X Syndrome	42
1120	c	DFN136	Deafness, Autosomal Dominant 9	42
1121		OGD001	Ogden Syndrome	42
1122		DXT002	Dextrocardia with Situs Inversus	42
1123		STL007	Steel Syndrome	42
1124		MLT084	Multicystic Dysplastic Kidney	42
1125		MCR103	Microtia	42
1126		TRP014	Triploidy	42
1127		GNT031	Genitopatellar Syndrome	42
1128		YLL001	Yellow Nail Syndrome	42
1129	P	CRN013	Craniodiaphyseal Dysplasia	42
1130	c	BNG093	Benign Teratoma	42
1131	c	BNM022	Bone Mineral Density Quantitative Trait Locus 8	41
1132	c	MLG081	Malignant Teratoma	41
1133	c	OST118	Osteogenesis Imperfecta, Type Viii	41
1134	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	41
1135		VLP002	Valproate Embryopathy	41
1136		CHR594	Chromosome 3q29 Deletion Syndrome	41
1137	c	CHR579	Chiari Malformation Type Ii	41
1138	c	CLR136	Ciliary Dyskinesia, Primary, 9	41
1139	P	BRC003	Brachyolmia	41
1140	P	BRN042	Branchiootic Syndrome	41
1141		DPH019	Diaphanospondylodysostosis	41
1142		CRN212	Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome	41
1143	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	41
1144		ACR043	Acromicric Dysplasia	41
1145	P	HRD086	Hereditary Hypophosphatemic Rickets	40
1146	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	40
1147	c	BRC052	Brachydactyly, Type B2	40
1148	c	BRD021	Bardet-Biedl Syndrome 9	40
1149		CHR590	Chromosome 15q11-Q13 Duplication Syndrome	40
1150		LRN006	Laurin-Sandrow Syndrome	40
1151	c	NNN009	Noonan Syndrome 2	40
1152		CHR667	Chromosome 3pter-P25 Deletion Syndrome	40
1153		CRY032	Carey-Fineman-Ziter Syndrome	40
1154		HYP332	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy	40
1155		BLR027	Blue Rubber Bleb Nevus	40
1156	P	MCR364	Macrodactyly	40
1157	c	MLT138	Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	40
1158	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	40
1159		PLY100	Polyploidy	40
1160	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	40
1161	c	HNF003	Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease	39
1162	c	SCN006	Secondary Syphilis	39
1163	c	ADM005	Adams-Oliver Syndrome 1	39
1164		END059	Endocrine-Cerebroosteodysplasia	39
1165	c	CTR183	Cataract 38	39
1166	c	HLP027	Holoprosencephaly 7	39
1167		GST052	Gestational Choriocarcinoma	39
1168	c	NRP029	Neuropathy, Hereditary Sensory, Type Iic	39
1169		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	39
1170		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	39
1171		CHR382	Chromosome 18q Deletion Syndrome	38
1172	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	38
1173		ACR016	Acromesomelic Dysplasia	38
1174	c	LRS002	Larsen-Like Syndrome	38
1175		ANT057	Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis	38
1176		ACR009	Acromesomelic Dysplasia, Hunter-Thompson Type	37
1177		CRN088	Craniorachischisis	37
1178		OCL039	Oculoectodermal Syndrome	37
1179		CHR518	Chromosome 9p Deletion Syndrome	37
1180	c	CNG513	Congenital Ptosis	37
1181		BLR028	Biliary Atresia, Extrahepatic	37
1182		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	37
1183		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	37
1184	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	37
1185		MTC018	Metachondromatosis	37
1186	P	MNN007	Meningocele	37
1187	c	WRD022	Waardenburg Syndrome, Type 2d	36
1188	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	36
1189	P	ATL001	Atelosteogenesis	36
1190	c	LPR012	Leopard Syndrome 1	36
1191		CHN040	Choanal Atresia and Lymphedema	36
1192	c	PTT042	Pitt-Hopkins-Like Syndrome	36
1193	c	RNG004	Ring Chromosome 1	36
1194	P	PLM149	Palmoplantar Keratoderma and Congenital Alopecia 2	36
1195		PLY036	Polyembryoma	36
1196	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	36
1197	c	PGT007	Paget Disease of Bone 3	36
1198	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	36
1199		ISL109	Isolated Cleft Lip	36
1200		EPP011	Epiphyseal Chondrodysplasia, Miura Type	35
1201	c	CLR135	Ciliary Dyskinesia, Primary, 7	35
1202		TTH004	Tethered Spinal Cord Syndrome	35
1203		HYP682	Hypertelorism, Teebi Type	35
1204	c	CTR141	Cataract 21, Multiple Types	35
1205	c	PRT059	Parietal Foramina 1	35
1206		NNT004	Neonatal Respiratory Failure	35
1207		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	35
1208		ISL062	Isolated Plagiocephaly	35
1209		DYS048	Dysplasia Epiphysealis Hemimelica	35
1210		CRD017	Cardiac Valvular Dysplasia, X-Linked	35
1211		OST062	Osteoarthritis with Mild Chondrodysplasia	35
1212	c	USH031	Usher Syndrome, Type Ij	35
1213	c	KNN009	Kenny-Caffey Syndrome, Type 1	35
1214	c	46X055	46,xy Sex Reversal 3	35
1215		HYD048	Hydrocephalus with Stenosis of the Aqueduct of Sylvius	35
1216	c	MNS014	Monosomy 22	35
1217		CHR381	Chromosome 17q23.1-Q23.2 Deletion Syndrome	35
1218		LMB008	Limb-Mammary Syndrome	35
1219	c	OST106	Osteopetrosis, Autosomal Recessive 8	34
1220	c	MCR109	Microphthalmia, Isolated 4	34
1221		OSB001	Osebold-Remondini Syndrome	34
1222		HLZ001	Holzgreve Syndrome	34
1223		RFM001	Roifman Syndrome	34
1224	P	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	34
1225	c	DFN111	Deafness, Autosomal Recessive 35	34
1226		CHR523	Chromosome 15q11.2 Deletion Syndrome	34
1227		PRP093	Pierpont Syndrome	34
1228	c	ADL057	Adult Teratoma	34
1229		EMP011	Emphysema, Congenital Lobar	34
1230	c	LSS010	Lissencephaly 4	33
1231	c	ATL012	Atelosteogenesis, Type Iii	33
1232		CYS021	Cystic Adenomatoid Malformation of Lung	33
1233		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	33
1234		SPN154	Spondyloperipheral Dysplasia	33
1235		PRG023	Progeroid Short Stature with Pigmented Nevi	33
1236	c	VCT004	Vacterl Association with Hydrocephalus	33
1237		OTD001	Otodental Dysplasia	33
1238	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	33
1239		MSC020	Mosaic Trisomy 8	33
1240		SPT023	Septate Uterus	33
1241		AMN014	Aminopterin Syndrome Sine Aminopterin	33
1242	c	BNM018	Bone Mineral Density Quantitative Trait Locus 3	33
1243	c	ADM007	Adams-Oliver Syndrome 2	33
1244	c	LTC001	Late Congenital Syphilis	33
1245	c	BRC075	Brachydactyly, Type A1, C	33
1246	c	MCR236	Microcephaly 13, Primary, Autosomal Recessive	32
1247		FMR018	Femoral-Facial Syndrome	32
1248	c	PGT009	Paget Disease of Bone 2, Early-Onset	32
1249	P	SCL047	Sclerocornea	32
1250	P	PLM182	Pulmonary Hypoplasia, Primary	32
1251	c	CPL015	Capillary Malformation-Arteriovenous Malformation 2	32
1252		CHR377	Chromosome 10q26 Deletion Syndrome	32
1253		ISL011	Isolated Aniridia	32
1254	c	GLP003	Geleophysic Dysplasia 1	32
1255	c	SMT018	Smith-Mccort Dysplasia 2	32
1256	c	FML084	Familial Porencephaly	31
1257		CDL005	Caudal Duplication Anomaly	31
1258		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	31
1259		GLB024	Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor	31
1260		SPN012	Spindle Cell Hemangioma	31
1261	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	31
1262	P	ALB003	Albinism-Deafness Syndrome	31
1263	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	31
1264	c	DFN248	Deafness, Autosomal Recessive 18b	31
1265		MLR023	Melorheostosis, Isolated	31
1266	c	CRN135	Cornelia De Lange Syndrome 3	31
1267	c	SCN005	Secondary Hypertrophic Osteoarthropathy	31
1268	c	DFN099	Deafness, Autosomal Dominant 2b	31
1269	c	SPL025	Split-Hand/foot Malformation 5	31
1270	c	CHL142	Cholestasis, Intrahepatic, of Pregnancy 3	31
1271		DYS045	Dysosteosclerosis	31
1272		CLF044	Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly	31
1273		ATY016	Atypical Werner Syndrome	31
1274	c	ORF048	Orofacial Cleft 1	31
1275		WRF003	Warfarin Syndrome	30
1276		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	30
1277	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	30
1278		MTR087	Maternal Uniparental Disomy	30
1279		MYP038	Myopathy, Congenital, Compton-North	30
1280		MSC021	Mosaic Trisomy 9	30
1281	c	GLL040	Galloway-Mowat Syndrome 3	30
1282	c	CRN303	Corneal Dystrophy, Posterior Polymorphous, 2	30
1283		MLL011	Mullerian Aplasia and Hyperandrogenism	30
1284	c	DFN119	Deafness, Autosomal Dominant 50	30
1285	c	HYP523	Hypogonadotropic Hypogonadism 14 with or Without Anosmia	30
1286	c	PRX065	Peroxisome Biogenesis Disorder 3a	30
1287	P	MTR051	Maternal Uniparental Disomy of Chromosome 1	30
1288	P	VNM004	Van Maldergem Syndrome	30
1289		MCR354	Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures	30
1290	c	OST138	Osteogenesis Imperfecta, Type Xvii	30
1291	c	ERL002	Early Congenital Syphilis	29
1292		FTL007	Fetal Hydantoin Syndrome	29
1293	c	SCK032	Seckel Syndrome 6	29
1294	c	DFN260	Deafness, Autosomal Recessive 89	29
1295		RTN145	Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis	29
1296	P	ACR106	Acrocephalopolysyndactyly Type Iii	29
1297		PLM013	Pulmonary Immaturity	29
1298	c	VNT028	Ventricular Septal Defect 1	29
1299		12Q002	12q14 Microdeletion Syndrome	29
1300		HYP364	Hyperostosis Frontalis Interna	29
1301		CLF049	Cleft Lip and Alveolus	29
1302	c	PRT060	Parietal Foramina 2	29
1303	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	29
1304	c	BNM015	Bone Mineral Density Quantitative Trait Locus 18	29
1305		LYM122	Lymphangiectasia, Pulmonary, Congenital	29
1306	c	DFN254	Deafness, Autosomal Recessive 84b	29
1307		49X001	49, Xxxxx	29
1308		WLL012	Williams-Beuren Region Duplication Syndrome	29
1309	c	ORF027	Orofacial Cleft 11	29
1310		UVL009	Uvula, Bifid	29
1311	c	HYP698	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2	29
1312	c	LSS009	Lissencephaly 3	28
1313	c	HYP714	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	28
1314	c	HRD202	Hereditary Lymphedema I	28
1315		FCL047	Facial Clefting, Oblique, 1	28
1316		CYS041	Cystic Angiomatosis of Bone, Diffuse	28
1317		MSM004	Mesomelia-Synostoses Syndrome	28
1318		MCR302	Macrostomia, Isolated	28
1319		HYP180	Hypertrichosis Lanuginosa Congenita	28
1320		DFN039	Deafness-Infertility Syndrome	28
1321		16Q001	16q24.3 Microdeletion Syndrome	28
1322		GRW039	Growth Retardation, Developmental Delay, and Facial Dysmorphism	28
1323	c	SYN060	Syndactyly, Type Iii	28
1324		CHR229	Chromosome 20p Duplication	28
1325	c	CTR166	Cataract 33, Multiple Types	28
1326		HRY005	Hairy Elbows	27
1327		XLN235	X-Linked Intellectual Disability with Marfanoid Habitus	27
1328	c	MLG151	Malignant Hyperthermia 5	27
1329	c	ORT012	Orthostatic Hypotension 2	27
1330		KPS005	Kaposiform Lymphangiomatosis	27
1331		NRD028	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies	27
1332		ART030	Aortic Arch Interruption	27
1333	c	CTR125	Cataract 7	27
1334		CHR265	Chromosome 8p Duplication	27
1335		DGT002	Digital Clubbing, Isolated Congenital	27
1336		FTL062	Fetal Iodine Deficiency Disorder	27
1337		ACR039	Acromegaloid Hypertrichosis Syndrome	27
1338	c	ERL012	Early-Onset Glaucoma	27
1339		LBN004	Liebenberg Syndrome	27
1340		CLF048	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features	26
1341		FTL064	Fetal Methylmercury Syndrome	26
1342	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	26
1343	P	VTM003	Vitamin Metabolic Disorder	26
1344		KPR002	Kapur-Toriello Syndrome	26
1345	c	RNG015	Ring Chromosome 2	26
1346	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	26
1347		NNG002	Non-Gestational Ovarian Choriocarcinoma	26
1348		CHR209	Chromosome 17p Duplication	26
1349		YNH001	Yuan-Harel-Lupski Syndrome	26
1350	c	XLN004	X-Linked Nonsyndromic Deafness	26
1351		ACR104	Acrofacial Dysostosis Syndrome of Rodriguez	26
1352	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	26
1353		CHR248	Chromosome 4p Duplication	26
1354		APR009	Aprosencephaly Syndrome	26
1355	c	ART156	Arthrogryposis, Distal, Type 2b2	26
1356	P	PRG139	Progeroid Syndrome	26
1357	c	PK3004	Pik3ca-Related Overgrowth Spectrum	26
1358		OCL040	Oculomaxillofacial Dysostosis	26
1359		SPS207	Spastic Paraplegia and Psychomotor Retardation with or Without Seizures	26
1360	c	OTF003	Otofaciocervical Syndrome 2	26
1361		CMP035	Complete Atrioventricular Canal	26
1362	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	26
1363	c	JBR039	Joubert Syndrome 28	26
1364	c	ADM012	Adams-Oliver Syndrome 6	26
1365		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	26
1366	c	DMN019	Diamond-Blackfan Anemia 4	26
1367		CHR621	Chromosome 16p11.2 Deletion Syndrome, 593-Kb	26
1368	P	RNL123	Renal Agenesis, Bilateral	25
1369	c	MRG015	Meier-Gorlin Syndrome 7	25
1370		CHR212	Chromosome 18p Duplication	25
1371		CLN022	Colonic Atresia	25
1372	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	25
1373		BSL045	Basel-Vanagaite-Smirin-Yosef Syndrome	25
1374		HGH023	High Bone Mass Osteogenesis Imperfecta	25
1375	c	HYD040	Hydrolethalus Syndrome 2	25
1376		NNG001	Non-Gestational Choriocarcinoma	25
1377	P	SYN064	Syndromic X-Linked Intellectual Disability	25
1378	c	CFF006	Coffin-Siris Syndrome 5	25
1379	c	DNC007	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	25
1380		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	25
1381		GNT043	Genitopalatocardiac Syndrome	25
1382		CHR252	Chromosome 5p Duplication	25
1383		48X002	48,xxxy Syndrome	25
1384		CHR457	Chromosome 17p13.1 Deletion Syndrome	25
1385	c	CLC055	Cole-Carpenter Syndrome 2	25
1386	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	25
1387		CNG506	Congenital Amyoplasia	25
1388		DPL009	Duplication of the Pituitary Gland	25
1389	c	MYS082	Myasthenic Syndrome, Congenital, 25, Presynaptic	25
1390	c	HYP546	Hypogonadotropic Hypogonadism 20 with or Without Anosmia	25
1391		ISL089	Isolated Scaphocephaly	24
1392	c	DFN243	Deafness, Autosomal Recessive 88	24
1393		MCR253	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma	24
1394	c	CRT067	Cortical Dysplasia, Complex, with Other Brain Malformations 2	24
1395	c	MCR331	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	24
1396	c	DFN240	Deafness, Autosomal Recessive 96	24
1397	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	24
1398		ADD006	Adducted Thumbs Syndrome	24
1399		INT312	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies	24
1400	P	UNP013	Uniparental Disomy of Chromosome 1	24
1401		CRB211	Cerebral Cortical Dysplasia	24
1402	c	JBR047	Joubert Syndrome 35	24
1403	c	KLF005	Kleefstra Syndrome 2	24
1404	c	LKD028	Leukodystrophy, Hypomyelinating, 15	24
1405		STN006	Steinfeld Syndrome	24
1406	c	LPR011	Leopard Syndrome 2	24
1407	c	CRT073	Cortical Dysplasia, Complex, with Other Brain Malformations 5	24
1408	c	DFN361	Deafness, Autosomal Recessive 106	24
1409	c	ORF047	Orofacial Cleft 15	24
1410	P	PHC014	Phocomelia	24
1411	c	OST170	Osteogenesis Imperfecta, Type Xix	24
1412		OCL070	Oculopalatocerebral Syndrome	24
1413	c	CTR182	Cataract 23, Multiple Types	24
1414		BRN129	Branchial Cleft Anomalies	24
1415		HRT018	Heart-Hand Syndrome, Slovenian Type	23
1416	c	CLC056	Cole-Carpenter Syndrome 1	23
1417		PTR034	Paternal Uniparental Disomy	23
1418	c	DFN147	Deafness, X-Linked 4	23
1419		CLR127	Ciliary Dyskinesia, Primary, 36, X-Linked	23
1420		RDL022	Radial Hemimelia	23
1421	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	23
1422		OST117	Osteomesopyknosis	23
1423		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	23
1424	c	LYM147	Lymphatic Malformation 3	23
1425	c	DMN029	Diamond-Blackfan Anemia 11	23
1426		CHR610	Chromosome 10q22.3-Q23.2 Deletion Syndrome	23
1427	c	CRT074	Cortical Dysplasia, Complex, with Other Brain Malformations 6	23
1428	c	THR096	Three M Syndrome 3	23
1429	c	ATR071	Atrioventricular Septal Defect 5	23
1430	c	DPH016	Diaphragmatic Hernia 3	23
1431		SPL057	Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects	23
1432	c	JVN025	Juvenile Primary Osteoporosis	23
1433	c	DFN156	Deafness, Autosomal Dominant 43	23
1434	P	ERL043	Early-Onset Nuclear Cataract	23
1435	c	INT005	Intermediate Malignant Teratoma	22
1436		PRT131	Partial Trisomy Distal 4q	22
1437		HML054	Hemolytic Disease Due to Fetomaternal Alloimmunization	22
1438	P	PLM064	Pulmonary Sequestration	22
1439		8P2002	8p23.1 Duplication Syndrome	22
1440		PTL010	Patella Aplasia-Hypoplasia	22
1441		FCL067	Focal Facial Dermal Dysplasia 1, Brauer Type	22
1442		DPR014	Diprosopus	22
1443		JNT001	Joint Laxity, Familial	22
1444	c	ORF025	Orofacial Cleft 6	22
1445		THY106	Thyroglossal Duct Cyst, Familial	22
1446		LNG101	Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome	22
1447		TTR016	Tetra-Amelia Syndrome	22
1448		ORF053	Orofacial Clefting Syndrome	22
1449	c	CTR187	Cataract 48	22
1450	c	MTR077	Mitral Valve Prolapse 2	22
1451	c	CTR169	Cataract 29	22
1452	c	URF002	Urofacial Syndrome 2	22
1453		NTH002	Nathalie Syndrome	22
1454	c	CRN216	Craniosynostosis 5	22
1455	c	BNM030	Bone Mineral Density Quantitative Trait Locus 16	22
1456	c	CRT071	Cortical Dysplasia, Complex, with Other Brain Malformations 4	22
1457		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	22
1458	c	SNG012	Singleton-Merten Syndrome 2	22
1459	P	BFD001	Bifid Nose	22
1460		6QT002	6q Terminal Deletion Syndrome	21
1461	c	LSS030	Lissencephaly 7 with Cerebellar Hypoplasia	21
1462	c	STC011	Stickler Syndrome, Type V	21
1463	c	GLC054	Glaucoma 3, Primary Congenital, D	21
1464		MTC181	Mitochondrial Dna-Related Progressive External Ophthalmoplegia	21
1465		BLT020	Bilateral Multicystic Dysplastic Kidney	21
1466		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	21
1467		ILL003	Illum Syndrome	21
1468	c	PRX089	Peroxisome Biogenesis Disorder 10b	21
1469		MLT173	Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability	21
1470	c	DFN161	Deafness, Autosomal Dominant 53	21
1471	c	OST176	Osteogenesis Imperfecta, Type Xx	21
1472		LYM123	Lymphedema-Hypoparathyroidism Syndrome	21
1473	c	HLP021	Holoprosencephaly 6	21
1474		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	21
1475	c	DMN028	Diamond-Blackfan Anemia 12	21
1476	c	HRN024	Horner Syndrome, Congenital	21
1477	c	DFN276	Deafness, X-Linked 6	21
1478		CHR241	Chromosome 2q24 Microdeletion Syndrome	21
1479		MTR027	Mitral Atresia	21
1480		ORB019	Orbital Margin, Hypoplasia of	21
1481		SPS188	Spastic Paraplegia-Paget Disease of Bone Syndrome	21
1482		ERM001	Ermine Phenotype	21
1483		VNF001	Vein of Galen Aneurysm	21
1484	c	ANT087	Anterior Segment Dysgenesis 6	21
1485		FTL018	Fetal Indomethacin Syndrome	21
1486		MTC100	Metacarpal 4-5 Fusion	20
1487	c	RNL099	Renal Hypodysplasia/aplasia 2	20
1488		PRG122	Prognathism, Mandibular	20
1489		EHL036	Ehlers-Danlos/osteogenesis Imperfecta Syndrome	20
1490	c	DFN370	Deafness, X-Linked 7	20
1491	c	GLC089	Glaucoma 3, Primary Congenital, E	20
1492		QDR002	Quadricuspid Aortic Valve	20
1493		FBL018	Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities	20
1494	P	CHR200	Chromosome 16 Trisomy	20
1495		FMR013	Femoral Agenesis/hypoplasia	20
1496		MZB001	Mazabraud Syndrome	20
1497		XLN240	X-Linked Otopalatodigital Spectrum Disorders	20
1498		TBT001	Tabatznik Syndrome	19
1499		MSC017	Mosaic Trisomy 22	19
1500	c	CHR227	Chromosome 20 Trisomy	19
1501		VGN031	Vaginal Atresia	19
1502		CHR612	Chromosome 15q14 Deletion Syndrome	19
1503	c	DFN281	Deafness, Autosomal Recessive 103	19
1504		MYC060	Mycophenolate Mofetil Embryopathy	19
1505	c	DFN174	Deafness, Autosomal Recessive 44	19
1506		ECT069	Ectodermal Dysplasia 8, Hair/tooth/nail Type	19
1507		UNL014	Unilateral Multicystic Dysplastic Kidney	19
1508		HLP020	Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence	19
1509		SMM003	Summitt Syndrome	19
1510		CHR182	Chromosome 10p Duplication	19
1511		CHR584	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb	19
1512		BMR004	Beemer Lethal Malformation Syndrome	19
1513		19P001	19p13.12 Microdeletion Syndrome	19
1514	c	MSC139	Mosaic Variegated Aneuploidy Syndrome 3	19
1515		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	19
1516		PRR029	Pierre Robin Syndrome and Oligodactyly	19
1517		PLD002	Pilodental Dysplasia with Refractive Errors	19
1518		MCR311	Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome	19
1519		CNT104	Contractures, Congenital, Torticollis, and Malignant Hyperthermia	19
1520		1Q4001	1q44 Microdeletion Syndrome	19
1521	c	PRR033	Perrault Syndrome 6	19
1522		OCL057	Oculotrichodysplasia	19
1523	c	SYN082	Syndromic X-Linked Intellectual Disability 14	19
1524		DST044	Distal Trisomy 14q	19
1525		DST045	Distal Trisomy 6p	19
1526	P	CNG070	Congenital Dislocation of the Patella	19
1527		CTN032	Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia	19
1528		ABS020	Absent Eyebrows and Eyelashes with Mental Retardation	19
1529		PCH004	Pachygyria, Frontotemporal	19
1530		HMF007	Hemifacial Hyperplasia with Strabismus	18
1531		LMB056	Lumbosacral Spina Bifida Cystica	18
1532		STT008	Steatocystoma Multiplex with Natal Teeth	18
1533		MYL044	Myelocystocele	18
1534		PYK001	Pyknoachondrogenesis	18
1535		SCL051	Scalp Defects and Postaxial Polydactyly	18
1536		RDL030	Radial-Renal Syndrome	18
1537	c	DFN242	Deafness, Autosomal Recessive 70	18
1538		BND017	Bone Dysplasia, Lethal, Holmgren Type	18
1539		CMP069	Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome	18
1540		DNR006	Duane Retraction Syndrome 3 with or Without Deafness	18
1541		HYD021	Hydrocephalus Obesity Hypogonadism	18
1542		SMS004	Simosa Craniofacial Syndrome	18
1543		MSM018	Mesomelic Limb Shortening and Bowing	18
1544		MSC081	Mosaic Trisomy 15	18
1545	c	PTS018	Ptosis, Hereditary Congenital 1	18
1546	c	TRN062	Transient Neonatal Myasthenia Gravis	18
1547		APH015	Aphalangy with Hemivertebrae	18
1548		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	18
1549	c	ORF050	Orofacial Cleft 2	18
1550		TRN017	Transient Neonatal Neutropenia	18
1551		ANR043	Aniridia and Absent Patella	18
1552		PLY088	Polyvalvular Heart Disease Syndrome	18
1553	c	OVR118	Ovarian Dysgenesis 6	18
1554	c	PLY178	Polydactyly, Postaxial, Type A8	18
1555	c	CHR180	Chromosome 10, Uniparental Disomy	18
1556		CNG347	Congenital Tricuspid Stenosis	18
1557		MCR303	Macrosomia with Microphthalmia, Lethal	18
1558	c	ORF049	Orofacial Cleft 3	17
1559		MTH070	Methimazole Antenatal Exposure	17
1560		BLP011	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	17
1561		7P2001	7p22.1 Microduplication Syndrome	17
1562		THR109	Thoracic Dysplasia-Hydrocephalus Syndrome	17
1563	P	ATS469	Autosomal Monosomy	17
1564	c	PRG096	Pregnancy Loss, Recurrent 2	17
1565		PRM334	Primary Bone Dysplasia with Increased Bone Density	17
1566	c	PRG093	Pregnancy Loss, Recurrent 3	17
1567		TBL027	Tubulinopathy-Associated Dysgyria	17
1568		HND012	Handigodu Joint Disease	17
1569	c	SYN040	Synpolydactyly 3	17
1570		RTF001	Retiform Hemangioendothelioma	17
1571		PNH003	Pinheiro Freire-Maia Miranda Syndrome	17
1572		DPH023	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull	17
1573		AMN013	Aminopterin/methotrexate Embryofetopathy	17
1574		ENC043	Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration	17
1575		HRS037	Hirschsprung Disease with Type D Brachydactyly	17
1576		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	17
1577		CMP073	Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia	17
1578		DST069	Distal Monosomy 12q	17
1579	c	DFN335	Deafness, Autosomal Dominant 71	17
1580	c	PGT006	Paget Disease of Bone 4	17
1581		OST148	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	17
1582	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	17
1583	c	MTR063	Maternal Uniparental Disomy of Chromosome 2	17
1584	c	PLY184	Polydactyly, Postaxial, Type A10	17
1585		LSS034	Lissencephaly Type Iii and Bone Dysplasia	17
1586		14Q001	14q12 Microdeletion Syndrome	16
1587		HYD051	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis	16
1588	c	BRC035	Brachydactyly Type A5	16
1589	c	BNM031	Bone Mineral Density Quantitative Trait Locus 17	16
1590	c	CTR128	Cataract 33	16
1591		CNT114	Central Nervous System Malformation	16
1592	c	NNS019	Nonsyndromic Holoprosencephaly	16
1593	c	PLY101	Polydactyly, Postaxial, Type A6	16
1594	c	PLY163	Polydactyly, Postaxial, Type A2	16
1595		SLF012	Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency	16
1596	c	UNP011	Uniparental Disomy of Chromosome 14	16
1597		TND002	Tendons, Extensor, of Fingers, Anomalous Insertion of	16
1598		49X005	49, Xxxyy Syndrome	16
1599		VLF001	Velofacioskeletal Syndrome	16
1600		CRT079	Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta	16
1601		8Q1001	8q12 Microduplication Syndrome	16
1602		FRS011	First Branchial Cleft Anomaly	16
1603		HMN034	Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe	16
1604		ECT091	Ectodermal Dysplasia with Natal Teeth, Turnpenny Type	16
1605		TRN013	Transient Neonatal Thrombocytopenia	16
1606	c	PTS010	Ptosis, Hereditary Congenital 2	16
1607		ECT023	Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	16
1608		CMP077	Composite Hemangioendothelioma	16
1609		SYN025	Syndactyly-Polydactyly-Earlobe Syndrome	16
1610		BWN005	Bowing of Long Bones Congenital	16
1611		TLP002	Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals	16
1612		NDL022	Nodular Neuronal Heterotopia	16
1613		MCR078	Microphthalmia Microtia Fetal Akinesia	16
1614		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	16
1615	c	CNT108	Central Polydactyly	16
1616		ULN021	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	16
1617		CNG067	Congenital Cystic Eye	16
1618		HYP727	Hypoglossia with Situs Inversus	16
1619		DST035	Distal Trisomy 18q	16
1620	c	ISC010	Isochromosome Yp	16
1621		ERL040	Early-Onset Sutural Cataract	15
1622		ALB022	Albinism-Microcephaly-Digital Anomalies Syndrome	15
1623		20P002	20p13 Microdeletion Syndrome	15
1624	c	CNG433	Congenital Cornea Plana	15
1625	c	BLN020	Blount Disease, Infantile	15
1626		ORL024	Oral and Digital Anomalies with Ichthyosis	15
1627		CRY029	Cryptomicrotia-Brachydactyly Syndrome	15
1628		ERL045	Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities	15
1629		TTH022	Teeth, Congenital Absence of, with Taurodontia and Sparse Hair	15
1630		UMB001	Umbilical Cord Ulceration and Intestinal Atresia	15
1631		DST038	Distal Monosomy 7q36	15
1632		OST061	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	15
1633		DSP003	Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	15
1634		49X004	49,xyyyy Syndrome	15
1635		SBP005	Subpulmonary Stenosis	15
1636		SBM006	Submucosal Cleft Palate	15
1637		PRR030	Pierre Robin Sequence with Facial and Digital Anomalies	15
1638	c	UNP008	Uniparental Disomy of Chromosome 15	15
1639		CNS012	Cono-Spondylar Dysplasia	15
1640	c	ORF029	Orofacial Cleft 13	15
1641	P	ISL029	Isolated Anorectal Malformation	15
1642		DST082	Distal Trisomy 10q	15
1643		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	15
1644		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	15
1645		SPN345	Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness	15
1646		CMP079	Complete Septate Uterus	15
1647		VNB001	Van Benthem-Driessen-Hanveld Syndrome	15
1648		PHK006	Phakomatosis Pigmentokeratotica	14
1649		FTL026	Fetal Parvovirus Syndrome	14
1650		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	14
1651		BRN122	Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	14
1652		RCT033	Rectal Duplication	14
1653		ANR045	Aneurysm of Interventricular Septum	14
1654		DRM038	Dermotrichic Syndrome	14
1655		6P2001	6p22 Microdeletion Syndrome	14
1656	c	SLV020	Silver-Russell Syndrome Due to a Point Mutation	14
1657	c	PLY054	Polydactyly, Postaxial, Type A4	14
1658	c	CSK002	Cask-Related Intellectual Disability	14
1659		NGH023	Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	14
1660		DST055	Distal 22q11.2 Microduplication Syndrome	14
1661		CMP098	Complex Vascular Malformation with Associated Anomalies	14
1662		MNS013	Monosomy 13q34	14
1663		BNK001	Banki Syndrome	14
1664		PRB002	Proboscis Lateralis	14
1665		PHL009	Phalangeal Microgeodic Syndrome	14
1666		CLB032	Coloboma of Macula and Skeletal Anomalies	14
1667		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1668		RNL109	Renal Hypoplasia, Bilateral	14
1669		PST111	Posterior Fossa Malformation	14
1670		ARC020	Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	14
1671	c	BNM021	Bone Mineral Density Quantitative Trait Locus 7	14
1672		GRH002	Graham Boyle Troxell Syndrome	14
1673		CCH006	Cochleosaccular Degeneration with Progressive Cataracts	14
1674		PRT165	Partial Deletion of the Short Arm of Chromosome 7	14
1675		20Q001	20q13.33 Microdeletion Syndrome	14
1676		PRM319	Primary Bone Dysplasia	13
1677		CCN010	Cocaine Embryofetopathy	13
1678		MCR295	Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	13
1679		PRM238	Primary Intralymphatic Angioendothelioma	13
1680		URC012	Urachal Sinus	13
1681		ISL111	Isolated Arrhinia	13
1682		URC013	Urachal Diverticulum	13
1683	c	ORF024	Orofacial Cleft 9	13
1684		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	13
1685		CMP022	Camptodactyly Taurinuria	13
1686		CNG241	Congenital Laryngeal Palsy	13
1687		CNG235	Congenital Microgastria	13
1688		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	13
1689		PHN013	Phenobarbital Antenatal Exposure	13
1690		RRC028	Rare Congenital Non-Syndromic Heart Malformation	13
1691		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	13
1692	c	CMP100	Campomelic Dysplasia and Related Disorders	13
1693		MDR001	Medeira-Dennis-Donnai Syndrome	13
1694		OST142	Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	13
1695	c	MTR057	Maternal Uniparental Disomy of Chromosome X	13
1696		CRN310	Cranial Malformation	13
1697		DST079	Distal Trisomy 5q	13
1698		FNG014	Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature	13
1699	c	UNP003	Uniparental Disomy of Chromosome 11	13
1700		CNT086	Centripetalis Recessive Dystrophic Epidermolysis Bullosa	13
1701		CNG519	Congenital Gerbode Defect	12
1702		ART097	Aorto-Left Ventricular Tunnel	12
1703		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	12
1704		PRT180	Partial Deletion of the Long Arm of Chromosome 7	12
1705		UNL006	Unilateral Focal Polymicrogyria	12
1706		XQ1001	Xq12-Q13.3 Duplication Syndrome	12
1707		PRT213	Partial Duplication of Chromosome 19	12
1708	P	PCH020	Pachyonychia Congenita, Autosomal Recessive	12
1709		ISL054	Isolated Congenitally Uncorrected Transposition of the Great Arteries	12
1710		PRX083	Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	12
1711		ANR041	Aniridia-Intellectual Disability Syndrome	12
1712		LPM011	Lip, Median Nodule of Upper	12
1713		ANN018	Anonychia, Total, with Microcephaly	12
1714		CLF040	Cleft Lip-Retinopathy Syndrome	12
1715		THR083	Third Branchial Cleft Anomaly	12
1716	c	OLV006	Olivopontocerebellar Atrophy Ii, Autosomal Recessive	12
1717	c	BFD005	Bifid Nose, Autosomal Recessive	12
1718		ANM075	Anomalous Aortic Origin of Coronary Artery	12
1719		ERL036	Early-Onset Posterior Subcapsular Cataract	12
1720		DST071	Distal Monosomy 19p13.3	12
1721		XLN145	X-Linked Intellectual Disability, Pai Type	12
1722		MCR285	Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	12
1723		CMP084	Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome	12
1724	c	EZH001	Ezh2-Related Overgrowth	12
1725		DYS208	Dysostosis with Brachydactyly	12
1726		PRP103	Peripapillary Staphyloma	12
1727		XLN204	X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	12
1728	P	ISL045	Isolated Focal Cortical Dysplasia Type I	11
1729		OST146	Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome	11
1730		OST144	Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	11
1731		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	11
1732		SVR082	Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	11
1733	c	RRC022	Rare Chromosomal Anomaly	11
1734		MGC005	Megacystis-Megaureter Syndrome	11
1735		MTR084	Maternal Hyperthermia-Induced Birth Defects	11
1736	c	UNP004	Uniparental Disomy of Chromosome 2	11
1737		FRN052	Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	11
1738		INV014	Inverse Klippel-Trenaunay Syndrome	11
1739	c	MTC199	Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis	11
1740	c	BNM017	Bone Mineral Density Quantitative Trait Locus 2	11
1741		ANR037	Aneurysm or Dilatation of Ascending Aorta	11
1742		PRT186	Partial Duplication of the Long Arm of Chromosome X	11
1743		DPL010	Duplication of the Esophagus	11
1744		PRT185	Partial Deletion of the Long Arm of Chromosome 13	11
1745		THN011	Thin Ribs-Tubular Bones-Dysmorphism Syndrome	11
1746	c	BFD004	Bifid Nose, Autosomal Dominant	10
1747		PRT163	Partial Deletion of the Short Arm of Chromosome 5	10
1748		MSC087	Mosaic Trisomy 4	10
1749		MRN008	Marin-Amat Syndrome	10
1750	c	BNM023	Bone Mineral Density Quantitative Trait Locus 9	10
1751	c	BNM024	Bone Mineral Density Quantitative Trait Locus 10	10
1752	c	BNM026	Bone Mineral Density Quantitative Trait Locus 12	10
1753	c	BNM028	Bone Mineral Density Quantitative Trait Locus 14	10
1754	c	MCR185	Macrodactyly of Toes	10
1755	c	CNG257	Congenital Pulmonary Sequestration	10
1756	c	GLC032	Glaucoma, Hereditary	10
1757		CNG575	Congenital Joint Dislocations	10
1758		CNG244	Congenital Laryngeal Cyst	10
1759		ATS453	Autosomal Anomaly	10
1760		16P011	16p12.1p12.3 Triplication Syndrome	10
1761		ERL027	Early-Onset Non-Syndromic Cataract	10
1762		DNT049	Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	10
1763		PRM246	Primary Tethered Cord Syndrome	10
1764		RNL107	Renal Dysplasia, Bilateral	10
1765	P	RRN017	Rare Intellectual Disability	10
1766		HYP584	Hypotrichosis-Intellectual Disability, Lopes Type	10
1767	c	PTR015	Paternal Uniparental Disomy of Chromosome X	10
1768		MCR184	Macrodactyly of Fingers	10
1769		PRT160	Partial Deletion of the Short Arm of Chromosome 4	10
1770	c	BNM019	Bone Mineral Density Quantitative Trait Locus 5	10
1771		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	10
1772	c	PTR019	Paternal Uniparental Disomy of Chromosome 5	9
1773	c	BNM025	Bone Mineral Density Quantitative Trait Locus 11	9
1774	c	BNM027	Bone Mineral Density Quantitative Trait Locus 13	9
1775	c	ISC017	Isca2-Related Mitochondrial Disorder	9
1776	c	RRR004	Rare Arteriovenous Malformation	9
1777	c	AML063	Amelogenesis Imperfecta Type 2a1	9
1778		PRT162	Partial Deletion of the Short Arm of Chromosome 6	9
1779		PRT153	Partial Deletion of Chromosome 11	9
1780	c	RRD039	Rare Dystonia	9
1781		SYN143	Syndromic Telecanthus	9
1782		ACC010	Accessory Tricuspid Valve Tissue	9
1783		RRV006	Rare Venous Malformation	9
1784		PRT106	Partial Duplication of the Short Arm of Chromosome X	9
1785	c	BNM014	Bone Mineral Density Quantitative Trait Locus 4	9
1786	c	MTR064	Maternal Uniparental Disomy of Chromosome 22	9
1787		SPN341	Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	9
1788		PRT219	Partial Duplication of the Short Arm of Chromosome 6	9
1789		INV017	Inverse Marcus-Gunn Phenomenon	9
1790		PRT218	Partial Duplication of the Short Arm of Chromosome 3	9
1791		PRT202	Partial Duplication of the Long Arm of Chromosome 6	9
1792		FBL015	Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	9
1793		CNG327	Congenital Epstein-Barr Virus Infection	9
1794	c	SCN085	Secondary Ectropion	9
1795		PRT154	Partial Deletion of Chromosome 18	9
1796		DST078	Distal Trisomy 6q	9
1797		DVL026	Developmental Defect of the Eye	9
1798		PRT171	Partial Deletion of the Short Arm of Chromosome 18	9
1799		OMP003	Omphalomesenteric Cyst	8
1800		PRT228	Partial Duplication of Chromosome 1	8
1801	P	PRT196	Partial Trisomy of the Long Arm of Chromosome 16	8
1802		ESP045	Esophageal Malformation	8
1803		INT227	Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	8
1804	c	ISC013	Isochromosomy Yq	8
1805	c	PRT205	Partial Trisomy of the Long Arm of Chromosome 5	8
1806		PRT241	Partial Deletion of the Long Arm of Chromosome 20	8
1807		DST057	Distal Trisomy 19q	8
1808	c	CNG405	Congenital Pulmonary Airway Malformation Type 4	8
1809	c	ANG052	Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15	8
1810	P	RRC010	Rare Capillary Malformation	8
1811		DGS009	Digestive Tract Malformation	8
1812	P	PRM337	Primary Osteolysis	8
1813		RNL108	Renal Hypoplasia, Unilateral	8
1814		SYN027	Syngnathia Cleft Palate	8
1815		PRT174	Partial Deletion of the Long Arm of Chromosome 1	8
1816		TRS020	Tarsal Kink Syndrome	8
1817		DBL018	Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis	8
1818	P	PRT183	Partial Monosomy of the Long Arm of Chromosome 10	8
1819	c	KRN003	Kernicterus Due to Isoimmunization	8
1820		PRT199	Partial Duplication of the Long Arm of Chromosome 13	8
1821	P	RBN007	Rubinstein Taybi Like Syndrome	8
1822		PRT152	Partial Deletion of Chromosome 10	8
1823		NNS054	Non-Syndromic Postaxial Polydactyly	8
1824		RNL106	Renal Dysplasia, Unilateral	8
1825	c	ANG053	Angelman Syndrome Due to Maternal 15q11q13 Deletion	8
1826		PLM023	Pulmonary Artery Choriocarcinoma	7
1827		MXL013	Maxillary Arteriovenous Malformation	7
1828	P	ISC012	Isochromosome Y	7
1829		NNS059	Non-Syndromic Limb Reduction Defect	7
1830	P	NNS070	Non-Syndromic Cerebral Malformation	7
1831		PLY086	Polyrrhinia	7
1832		PRT235	Partial Deletion of the Long Arm of Chromosome 14	7
1833		ISL108	Isolated Splenogonadal Fusion	7
1834		ARC019	Arachnodactyly - Intellectual Disability - Dysmorphism	7
1835		PRT149	Partial Deletion of Chromosome 7	7
1836	c	PRT190	Partial Trisomy of the Long Arm of Chromosome 18	7
1837		PRT217	Partial Duplication of the Short Arm of Chromosome 4	7
1838		RDL020	Radio-Ulnar Synostosis, Bilateral	7
1839	c	PTR023	Paternal Uniparental Disomy of Chromosome 13	7
1840	P	PRT170	Partial Monosomy of the Short Arm of Chromosome 17	7
1841		PRT177	Partial Deletion of the Long Arm of Chromosome 4	7
1842		PRT244	Partial Deletion of the Short Arm of Chromosome 12	7
1843		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	7
1844		ISL023	Isolated Congenital Auditory Ossicle Malformation	6
1845	P	TSS001	Tessier Number 5 Facial Cleft	6
1846		14Q003	14q11.2 Microduplication Syndrome	6
1847	c	46X063	46,xy Disorder of Sex Development Due to Impaired Androgen Production	6
1848	c	KLN007	Koolen-De Vries Syndrome Due to a Point Mutation	6
1849	c	MTR065	Maternal Uniparental Disomy of Chromosome 21	6
1850		SYN155	Syndromic Anorectal Malformation	6
1851		KRS001	Krauss Herman Holmes Syndrome	6
1852	c	CRB128	Cerebrofacial Arteriovenous Metameric Syndrome Type 1	6
1853		12Q001	12q15q21.1 Microdeletion Syndrome	6
1854		DST074	Distal Trisomy 20q	6
1855	c	RNL090	Renal Tubular Dysgenesis Due to Twin-Twin Transfusion	6
1856		CLS025	Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency	6
1857		CLS027	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form	6
1858		CLS028	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form	6
1859	c	PRM318	Primary Short Bowel Syndrome	6
1860		IDP088	Idiopathic Isolated Micropenis	6
1861		LPT012	Leptomyelolipoma	6
1862		PRM160	Premature Closure of the Arterial Duct	6
1863	c	NNS047	Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration	6
1864		HYP850	Hypoglossia/aglossia	6
1865		PRT222	Partial Duplication of Chromosome 8	6
1866		PRT229	Partial Duplication of Chromosome 2	6
1867		PHK010	Phakomatosis Spilorosea	6
1868		TBL020	Tubular Duplication of the Esophagus	6
1869		NSN002	Nose and Cavum Anomaly	6
1870	c	RRD061	Rare Disorder with Ptosis	6
1871	c	CHR179	Chromosome 1, Uniparental Disomy 1q12 Q21	5
1872		CRD212	Cardiac Anomalies-Heterotaxy Syndrome	5
1873		EXT043	External Auditory Canal Aplasia/hypoplasia	5
1874		CLB023	Coloboma of Inferior Eyelid	5
1875		PRT141	Partial Deletion of Chromosome 1	5
1876		PRT147	Partial Deletion of Chromosome 9	5
1877		PRT176	Partial Deletion of the Long Arm of Chromosome 3	5
1878		PRT189	Partial Duplication of the Long Arm of Chromosome 19	5
1879		PRT192	Partial Duplication of the Long Arm of Chromosome 22	5
1880		PRT211	Partial Duplication of the Short Arm of Chromosome 11	5
1881		DST066	Distal Monosomy 20q	5
1882		DST073	Distal Monosomy 7p	5
1883		DST083	Distal Trisomy 9q	5
1884		PRT091	Partial Cryptophthalmia	5
1885		LNS008	Lens Position Anomaly	5
1886		CNG602	Congenital Anomaly of the Great Arteries	5
1887	c	LRP007	Lrp5-Related Primary Osteoporosis	5
1888		PRS138	Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium	5
1889		PLM157	Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome	5
1890		INT285	Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome	5
1891		PRM320	Primary Bone Dysplasia with Micromelia	5
1892		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	5
1893		DRG019	Drug-Related Renal Tubular Dysgenesis	5
1894	c	PTR020	Paternal Uniparental Disomy of Chromosome 20	5
1895		DST067	Distal Monosomy 14q	5
1896		PRM332	Primary Bone Dysplasia with Defective Bone Mineralization	5
1897		PRM333	Primary Bone Dysplasia with Decreased Bone Density	5
1898		NNT057	Neonatal Osteosclerotic Dysplasia	5
1899		PRM335	Primary Bone Dysplasia with Multiple Joint Dislocations	5
1900		PRM336	Primary Bone Dysplasia with Disorganized Development of Skeletal Components	5
1901		SLN010	Slender Bone Dysplasia	5
1902	c	TTL014	Total Autosomal Monosomy	5
1903		BCR005	Bicervical Bicornuate Uterus and Blind Hemivagina	5
1904		PRR038	Pierre Robin Syndrome Associated with Bone Disease	5
1905		FCL034	Facial Dermoid Cyst	5
1906		PRT168	Partial Deletion of the Short Arm of Chromosome 16	5
1907		PRT191	Partial Duplication of the Long Arm of Chromosome 17	5
1908		PRT195	Partial Duplication of the Long Arm of Chromosome 8	5
1909		PRT198	Partial Duplication of the Long Arm of Chromosome 14	5
1910		PRT240	Partial Deletion of the Long Arm of Chromosome 19	5
1911		CNG571	Congenital Disorder of Glycosylation-Related Bone Disorder	5
1912		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	5
1913		STR107	Sterol Biosynthesis Disorder	5
1914		DST070	Distal Monosomy 4q	5
1915		DBL013	Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect	5
1916		SYN144	Syndromic Outer Canthal Malposition	5
1917		CRN313	Corneodysgenesis	5
1918	c	CRN093	Craniosynostosis Autosomal Dominant	5
1919		NNC007	Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency	5
1920		ERL060	Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia	5
1921		OPN003	Open Iniencephaly	4
1922		NNS046	Non-Syndromic Urogenital Tract Malformation	4
1923		LWS004	Low Isolated Anorectal Malformation	4
1924	c	TSS003	Tessier Number 6 Facial Cleft	4
1925		MDN007	Median Cleft Lip/mandibule	4
1926		PRT142	Partial Deletion of Chromosome 4	4
1927		PRT157	Partial Deletion of Chromosome 19	4
1928		46X068	46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen	4
1929		46X069	46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen	4
1930		MXD034	Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations	4
1931		2P1003	2p13.2 Microdeletion Syndrome	4
1932		PRT245	Partial Deletion of Chromosome 12	4
1933		CNG316	Congenital Vertical Talus, Bilateral	4
1934		MCR188	Macrodactyly of Fingers, Unilateral	4
1935		MCR280	Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	4
1936		ARX004	Arx-Related Encephalopathy-Brain Malformation Spectrum	4
1937		4Q2002	4q25 Proximal Deletion Syndrome	4
1938		RRC020	Rare Congenital Anomaly of Ventricular Septum	4
1939		RSP024	Respiratory or Mediastinal Malformation	4
1940		NND007	Non-Distal Monosomy 12q	4
1941		SYN141	Syndromic Renal or Urinary Tract Malformation	4
1942		RRP026	Rare Palpebral Disorder	4
1943		SYN158	Syndrome with a Central Nervous System Malformation As Major Feature	4
1944		MLT174	Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome	4
1945		MLT175	Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability	4
1946	c	RRD045	Rare Disorder with Ectropion	4
1947	c	BLT012	Bilateral Renal Agenesis Dominant Type	4
1948		NSL027	Nasal Dorsum Fistula	4
1949		PNN004	Pinnae Fistula or Cyst	4
1950	c	PRT188	Partial Trisomy of the Long Arm of Chromosome 20	4
1951		PRT210	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18	4
1952		PRT224	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12	4
1953		MRF016	Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome	4
1954		PRT247	Partial Duplication of the Short Arm of Chromosome 19	4
1955		DYS209	Dysostosis with Predominant Vertebral and Costal Involvement	4
1956		ABN010	Abnormal Number of Coronary Ostia	4
1957		PLM178	Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome	4
1958		MCR377	Microblepharon-Ablephara Syndrome	4
1959		LNS009	Lens Size Anomaly	4
1960		OTH025	Other Syndrome with Lissencephaly As a Major Feature	4
1961	c	DDX001	Ddx3x-Related Intellectual Disability	4
1962	c	GLC033	Glaucoma, Hereditary Adult Type 1a	4
1963	c	GLC034	Glaucoma, Hereditary Juvenile Type 1b	4
1964	c	RRD046	Rare Disorder with Entropion	4
1965		HGH040	High Isolated Anorectal Malformation	4
1966		ISL107	Isolated Congenital Syngnathia	4
1967		PRT156	Partial Deletion of Chromosome 20	4
1968	c	XCH002	X Chromosome Number Anomaly	4
1969		MLF006	Malformation of the Neurenteric Canal, Spinal Cord and Column	4
1970		SGM005	Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia	4
1971		HMZ005	Homozygous 2p21 Microdeletion Syndrome	4
1972		CNG576	Congenital Deformities of Fingers	4
1973		SPG003	Spigelian Hernia-Cryptorchidism Syndrome	4
1974		CNG315	Congenital Vertical Talus, Unilateral	4
1975		MCR189	Macrodactyly of Toes, Bilateral	4
1976		OVR126	Overgrowth or Tall Stature Syndrome with Skeletal Involvement	4
1977		GNT161	Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy	4
1978		PNC130	Pancreatic Agenesis-Holoprosencephaly Syndrome	4
1979	c	PTR021	Paternal Uniparental Disomy of Chromosome 21	4
1980		NNS058	Non-Syndromic Renal or Urinary Tract Malformation	4
1981		SYN156	Syndrome with Limb Malformations As a Major Feature	4
1982		NNS064	Non-Syndromic Central Nervous System Malformation	4
1983		SYN159	Syndromic Diaphragmatic or Abdominal Wall Malformation	4
1984		SYN162	Syndromic Esophageal Malformation	4
1985	c	INT350	Intermediate Isolated Anorectal Malformation	3
1986		DYS202	Dysostosis with Limb Anomaly As a Major Feature	3
1987		TRC124	True Congenital Shoulder Dislocation	3
1988		ISL126	Isolated Iridoschisis	3
1989		ISL127	Isolated Blepharochalasis	3
1990		RRT021	Rare Otorhinolaryngological Malformation	3
1991		CNG341	Congenital Anomaly of the Coronary Sinus	3
1992		MSM021	Mesomelic and Rhizo-Mesomelic Dysplasia	3
1993		MTR068	Mitral Valve Agenesis	3
1994		LNS007	Lens Shape Anomaly	3
1995		SYN163	Syndromic Gastroduodenal Malformation	3
1996		RRV004	Rare Vaginal Malformation	3
1997		NNS051	Non-Syndromic Urogenital Tract Malformation of Male	3
1998		PRR037	Pierre Robin Syndrome Associated with a Chromosomal Anomaly	3
1999		TRT023	Teratogenic Pierre Robin Syndrome	3
2000		RRS007	Rare Syndrome with Cardiac Malformations	3
2001		PRL049	Paralytic Facial Malformation	3
2002		PRT214	Partial Trisomy/tetrasomy of Chromosome 18	3
2003		PRT221	Partial Trisomy/tetrasomy of Chromosome 9	3
2004		PRT232	Partial Trisomy/tetrasomy of Chromosome 5	3
2005		OTH014	Other Syndrome with a Central Nervous System Malformation As Major Feature	3
2006		CNT113	Central Nervous System Cystic Malformation	3
2007		INF180	Infantile Hemangioma of Rare Localization	3
2008		EPB005	Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome	3
2009		CNG317	Congenital Genu Flexum	3
2010		CNG321	Congenital Elbow Dislocation, Bilateral	3
2011		CNG322	Congenital Elbow Dislocation, Unilateral	3
2012		RRC017	Rare Capillary Malformation with Associated Anomalies	3
2013		ISL152	Isolated Congenital Hypoglossia	3
2014		ATS455	Autosomal Uniparental Disomy	3
2015		MLF007	Malformation Syndrome with Hamartosis	3
2016		CRN315	Cranial Nerve and Nuclear Aplasia	3
2017		NNS063	Non-Syndromic Respiratory or Mediastinal Malformation	3
2018		SYN161	Syndromic Visceral Malformation	3
2019		RRD017	Rare Developmental Defect with Connective Tissue Involvement	3
2020		RRH012	Rare Head and Neck Malformation	3
2021		TXC022	Toxic or Drug-Related Embryofetopathy	3
2022		GLP005	Glioependymal/ependymal Cyst	3
2023		RRD038	Rare Disorder with Hirschsprung Disease As a Major Feature	3
2024		PLM194	Pulmonary Artery or Pulmonary Branch Anomaly	3
2025		NNS050	Non-Syndromic Urogenital Tract Malformation of Female	2
2026		XCH003	X Chromosome Number Anomaly with Female Phenotype	2
2027		NNS053	Non Syndromic Limb Overgrowth	2
2028		PRT248	Partial Autosomal Trisomy/tetrasomy	2
2029	P	TST021	Testicular Germ Cell Tumor	61
2030	c	TST046	Testicular Germ Cell Tumor 1	29
2031		UND001	Undifferentiated Embryonal Sarcoma of the Liver	29
2032	P	MDL005	Medulloblastoma	77
2033	c	ADL023	Adult Medulloblastoma	44
2034		SPR008	Supratentorial Primitive Neuroectodermal Tumor	43
2035		GRC001	Gracile Syndrome	40
2036		WLL022	Well-Differentiated Fetal Adenocarcinoma of the Lung	16
2037		CHL031	Childhood Vagina Botryoid Rhabdomyosarcoma	7
2038		CHL048	Childhood Teratocarcinoma of the Testis	7
2039	P	NNN008	Noonan Syndrome 1	76
2040	c	TBR025	Tuberous Sclerosis 1	76
2041		PHN003	Phenylketonuria	75
2042	P	NRB001	Neuroblastoma	71
2043	c	TBR026	Tuberous Sclerosis 2	71
2044	P	CRD224	Cardiofaciocutaneous Syndrome 1	70
2045	P	CRN037	Craniosynostosis	68
2046		GRG001	Greig Cephalopolysyndactyly Syndrome	67
2047	c	MCL062	Mucolipidosis Ii Alpha/beta	66
2048	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	66
2049		AND002	Androgen Insensitivity Syndrome	66
2050	P	DYS007	Dyskeratosis Congenita	66
2051		ART001	Arterial Tortuosity Syndrome	66
2052	P	TRC072	Treacher Collins Syndrome 1	66
2053	P	MCK013	Meckel Syndrome, Type 1	65
2054	P	RTH006	Rothmund-Thomson Syndrome, Type 2	64
2055		PLL001	Pallister-Hall Syndrome	64
2056	P	CNG001	Congenital Myasthenic Syndrome	64
2057	P	CFF008	Coffin-Siris Syndrome 1	62
2058		ALS001	Alstrom Syndrome	62
2059	P	CRN108	Cranioectodermal Dysplasia 1	62
2060	P	THN009	Thanatophoric Dysplasia, Type I	62
2061		PYR022	Pyruvate Dehydrogenase E1-Alpha Deficiency	62
2062	c	BRD010	Bardet-Biedl Syndrome 1	61
2063	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	61
2064		ART141	Arteriovenous Malformations of the Brain	61
2065	P	DNT020	Dent Disease 1	60
2066		CHR619	Chromosome 2q35 Duplication Syndrome	60
2067		PND002	Pendred Syndrome	60
2068		CRT002	Cartilage-Hair Hypoplasia	60
2069	P	VNT002	Ventricular Septal Defect	60
2070		KLP010	Klippel-Trenaunay-Weber Syndrome	60
2071	P	PGT001	Paget's Disease of Bone	60
2072	P	WLF004	Wolfram Syndrome	59
2073		HRL003	Hurler Syndrome	59
2074		MNK003	Muenke Syndrome	59
2075		DST005	Diastrophic Dysplasia	59
2076		MCK005	Mckusick-Kaufman Syndrome	58
2077	P	MLT007	Multiple Epiphyseal Dysplasia	58
2078		PSD012	Pseudoachondroplasia	58
2079		SCH078	Schimmelpenning-Feuerstein-Mims Syndrome	58
2080		MCS006	Macs Syndrome	58
2081	P	PLY006	Polydactyly	58
2082		PLM070	Pulmonic Stenosis	57
2083		TTL012	Total Anomalous Pulmonary Venous Return 1	57
2084		ARS001	Aarskog-Scott Syndrome	57
2085	P	CHR625	Charcot-Marie-Tooth Disease, Demyelinating, Type 1b	57
2086		DNY001	Denys-Drash Syndrome	57
2087	P	STC001	Stickler Syndrome	57
2088		WLF002	Wolf-Hirschhorn Syndrome	56
2089	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	56
2090		PSD014	Pseudopseudohypoparathyroidism	56
2091	c	CHR627	Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	56
2092		DBL002	Double Outlet Right Ventricle	56
2093		DNN002	Donnai-Barrow Syndrome	56
2094	c	KLF004	Kleefstra Syndrome 1	55
2095	P	WLL002	Weill-Marchesani Syndrome	55
2096		DXT001	Dextrocardia	55
2097		SMT008	Smith-Magenis Syndrome	55
2098	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	54
2099		PRN019	Perinatal Necrotizing Enterocolitis	54
2100	P	SLV001	Silver-Russell Syndrome	54
2101	P	JNC001	Junctional Epidermolysis Bullosa	54
2102	P	ICH004	Ichthyosis	54
2103	P	SCL048	Sclerosteosis	53
2104	c	LSS005	Lissencephaly 1	53
2105		OST044	Osteoglophonic Dysplasia	53
2106	c	OST164	Osteoporosis, Juvenile	53
2107		FRS002	Frasier Syndrome	53
2108		CLB010	Coloboma of Macula	53
2109		SCH016	Schimke Immunoosseous Dysplasia	53
2110		MCR165	Microphthalmia with Limb Anomalies	53
2111	c	WRD033	Waardenburg Syndrome, Type 2e	53
2112		MCN007	Meconium Aspiration Syndrome	52
2113	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	52
2114	P	PTS002	Ptosis	52
2115		NVS001	Neovascular Glaucoma	52
2116	P	PRR016	Pierre Robin Syndrome	52
2117	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	51
2118		HMC040	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	51
2119	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	51
2120	c	LKD019	Leukodystrophy, Hypomyelinating, 6	51
2121		MLB001	Mulibrey Nanism	51
2122		MYL020	Myelomeningocele	51
2123	P	HYP040	Hypospadias	51
2124		BWN001	Bowen-Conradi Syndrome	51
2125	P	NML001	Nemaline Myopathy	51
2126	P	LSS002	Lissencephaly	51
2127	P	MTR003	Mitral Valve Stenosis	50
2128	c	FML347	Familial Adenomatous Polyposis 2	50
2129		MLT134	Multiple Pterygium Syndrome, Lethal Type	50
2130	c	FNC029	Fanconi Anemia, Complementation Group I	50
2131		RDL002	Radioulnar Synostosis	50
2132		HYL004	Hyaline Fibromatosis Syndrome	50
2133	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	50
2134		DDN011	Duodenal Atresia	49
2135	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	49
2136		PTS001	Patau Syndrome	49
2137	c	NRB010	Neuroblastoma 1	49
2138		JCB001	Jacobsen Syndrome	49
2139		IFP001	Ifap Syndrome with or Without Bresheck Syndrome	49
2140	c	DYS119	Dystonia 9	49
2141	c	ART120	Arthrogryposis, Distal, Type 3	49
2142	c	LKD010	Leukodystrophy, Hypomyelinating, 2	48
2143	c	DSB006	Desbuquois Dysplasia 1	48
2144	c	NML002	Nemaline Myopathy 1	48
2145		GLC106	Glucocorticoid Resistance, Generalized	48
2146		PTC002	Potocki-Lupski Syndrome	47
2147	c	NML003	Nemaline Myopathy 2	47
2148		MYP151	Myopathy, Congenital, Bailey-Bloch	47
2149	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	47
2150		SPN411	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	47
2151		CMP034	Complete Androgen Insensitivity Syndrome	47
2152		NNC002	Nance-Horan Syndrome	47
2153	c	FNC023	Fanconi Anemia, Complementation Group N	47
2154		WDM005	Wiedemann-Rautenstrauch Syndrome	47
2155	P	CRC039	Coarctation of Aorta	47
2156		FBL002	Fibular Hypoplasia and Complex Brachydactyly	47
2157	P	FBR025	Fibrochondrogenesis	46
2158		HYD001	Hydranencephaly	46
2159	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	46
2160	P	PNT019	Pontocerebellar Hypoplasia	46
2161	c	MCK031	Meckel Syndrome, Type 2	46
2162	P	SYR001	Syringomyelia	46
2163	c	CHR320	Chiari Malformation Type I	46
2164		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	46
2165		ECT007	Ectodermal Dysplasia/skin Fragility Syndrome	46
2166	c	MCR247	Microcephaly 1, Primary, Autosomal Recessive	46
2167		MDD010	Middle Ear Disease	46
2168	c	FNC047	Fanconi Anemia, Complementation Group Q	46
2169	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	46
2170		MCR173	Microform Holoprosencephaly	45
2171		CLL036	Culler-Jones Syndrome	45
2172	c	BRT050	Bartter Syndrome, Type 2, Antenatal	45
2173		CYN002	Cyanosis, Transient Neonatal	45
2174		SPS204	Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity	45
2175		DYG001	Dyggve-Melchior-Clausen Disease	45
2176	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	45
2177	c	BRC109	Brachydactyly, Type E1	45
2178	c	ICH051	Ichthyosis, Congenital, Autosomal Recessive 11	45
2179	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	45
2180		ASP004	Asphyxia Neonatorum	45
2181	P	VHW001	Vohwinkel Syndrome	45
2182	c	NML004	Nemaline Myopathy 3	45
2183	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	45
2184	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	45
2185		HRT030	Hartsfield Syndrome	45
2186		FTL075	Fetal Encasement Syndrome	44
2187		LYM029	Lymphedema-Distichiasis Syndrome	44
2188	c	LKD009	Leukodystrophy, Hypomyelinating, 5	44
2189	c	RTS003	Ritscher-Schinzel Syndrome 1	44
2190		BZX001	Bazex Syndrome	44
2191	c	RNG023	Ring Chromosome 7	44
2192	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	44
2193		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	44
2194	c	FNC045	Fanconi Anemia, Complementation Group F	43
2195		ACR012	Aicardi Syndrome	43
2196	c	DFN250	Deafness, Autosomal Recessive 2	43
2197	c	BRT052	Bartter Syndrome, Type 1, Antenatal	43
2198		FRY002	Fryns Syndrome	43
2199	c	MLG147	Malignant Hyperthermia 1	43
2200	c	XLN110	X-Linked Charcot-Marie-Tooth Disease	43
2201		CHN057	Chondrodysplasia, Grebe Type	43
2202	P	EPT020	Epithelioid Hemangioendothelioma	43
2203	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	43
2204		OVR112	Ovarian Germ Cell Cancer	43
2205		DYS018	Dysostosis	43
2206	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	43
2207		RNL025	Renal Hypoplasia	43
2208	c	CFF010	Coffin-Siris Syndrome 3	42
2209	c	VNM003	Van Maldergem Syndrome 1	42
2210	c	MCR248	Microcephaly 3, Primary, Autosomal Recessive	42
2211	P	JVN008	Juvenile Glaucoma	42
2212	c	PCH012	Pachyonychia Congenita 2	42
2213		CRN049	Craniolenticulosutural Dysplasia	42
2214	P	LTH003	Lethal Congenital Contracture Syndrome	42
2215	c	DFN133	Deafness, Autosomal Recessive 9	42
2216	P	RNG032	Ring Chromosome	42
2217	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	42
2218		OLV002	Oliver Syndrome	42
2219	c	FNC058	Fanconi Anemia, Complementation Group R	42
2220		BLD129	Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	42
2221	c	MCR250	Microcephaly 6, Primary, Autosomal Recessive	41
2222	P	ECT005	Ectropion	41
2223	c	MCK034	Meckel Syndrome, Type 8	41
2224		GRN013	Greenberg Dysplasia	41
2225		ISC020	Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension	41
2226		PRL023	Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome	41
2227		LCR013	Lacrimal Duct Defect	41
2228	c	MYS068	Myasthenic Syndrome, Congenital, 20, Presynaptic	41
2229	c	MCR263	Microphthalmia, Syndromic 1	41
2230	c	MCR320	Microcephaly 17, Primary, Autosomal Recessive	41
2231	c	PNT043	Pontocerebellar Hypoplasia, Type 4	40
2232		ACH001	Acheiropody	40
2233	P	CHR342	Chiari Malformation	40
2234		SPN402	Spinal Muscular Atrophy, X-Linked 2	40
2235	c	NML006	Nemaline Myopathy 5	40
2236	P	ANT061	Antenatal Bartter Syndrome	40
2237		ABR009	Abruzzo-Erickson Syndrome	40
2238	P	MLT065	Multicentric Osteolysis, Nodulosis, and Arthropathy	40
2239	c	MCR238	Microcephaly 7, Primary, Autosomal Recessive	40
2240	c	DFN098	Deafness, Autosomal Dominant 3a	40
2241		EPD022	Epidermolysis Bullosa Pruriginosa	40
2242		ART103	Arthrogryposis, Mental Retardation, and Seizures	40
2243		EHL079	Ehlers-Danlos Syndrome, Dermatosparaxis Type	39
2244	c	DYS151	Dystonia 25	39
2245	c	LKD020	Leukodystrophy, Hypomyelinating, 10	39
2246		KGM001	Kagami-Ogata Syndrome	39
2247	P	SPL061	Split Hand-Foot Malformation	38
2248		HYP629	Hyperphosphatasia-Intellectual Disability Syndrome	38
2249	c	DFN200	Deafness, Autosomal Dominant 17	38
2250	c	NML005	Nemaline Myopathy 4	38
2251	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	38
2252	c	NML010	Nemaline Myopathy 7	38
2253	c	MCR211	Microphthalmia, Isolated 6	38
2254	c	AML017	Amelogenesis Imperfecta, Type Ib	38
2255	c	CTR130	Cataract 9, Multiple Types	38
2256		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	38
2257		PHC018	Phace Association	38
2258	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	37
2259	c	DFN170	Deafness, Autosomal Recessive 31	37
2260		17B003	17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	37
2261		RBN014	Robin Sequence with Cleft Mandible and Limb Anomalies	37
2262	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	37
2263	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	37
2264		PRT048	Partial Atrioventricular Canal	37
2265	c	MCR223	Microcephaly 10, Primary, Autosomal Recessive	37
2266		OLV004	Oliver-Mcfarlane Syndrome	37
2267	c	DFN092	Deafness, Autosomal Recessive 49	36
2268	c	FRN049	Frontometaphyseal Dysplasia 1	36
2269		JJN004	Jejunal Atresia	36
2270		SPN362	Spondylometaphyseal Dysplasia, Sedaghatian Type	36
2271		HMM005	Hemimelia	36
2272		VRH001	Verheij Syndrome	36
2273	P	OVR075	Ovarian Dysgenesis 1	36
2274		LNG040	Langer Mesomelic Dysplasia	36
2275	c	CTR174	Cataract 40	36
2276	c	LTH008	Lethal Congenital Contracture Syndrome 2	36
2277	c	JBR030	Joubert Syndrome 22	36
2278		CHR075	Choriocarcinoma of Ovary	36
2279	c	USH042	Usher Syndrome, Type Ig	35
2280		CHR501	Chromosome 17q12 Deletion Syndrome	35
2281	c	NML022	Nemaline Myopathy 10	35
2282		MHR002	Mohr Syndrome	35
2283	c	BRT028	Brittle Cornea Syndrome 1	35
2284	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	35
2285		CRB147	Cerebellofaciodental Syndrome	35
2286	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	35
2287		PNC104	Pancreatic and Cerebellar Agenesis	35
2288	c	NRP039	Neuropathy, Hereditary Sensory, Type Id	35
2289	c	LKD008	Leukodystrophy, Hypomyelinating, 4	35
2290		DST033	Distichiasis	35
2291	c	SPN095	Spinocerebellar Ataxia 19	35
2292	c	WLL036	Weill-Marchesani Syndrome 1	35
2293	c	MCR243	Microcephaly 8, Primary, Autosomal Recessive	35
2294		ATY022	Atypical Coarctation of Aorta	35
2295	c	SPN264	Spinocerebellar Ataxia, Autosomal Recessive 12	35
2296		HMR015	Humeroradial Synostosis	34
2297		HYP679	Hypoglossia-Hypodactylia	34
2298	c	MYS070	Myasthenic Syndrome, Congenital, 19	34
2299	c	CTR145	Cataract 44	34
2300	c	MLT059	Multiple Synostoses Syndrome 1	34
2301		PST063	Postsynaptic Congenital Myasthenic Syndromes	34
2302		TRC118	Trichodentoosseous Syndrome	34
2303	c	RNG020	Ring Chromosome 4	34
2304		ODN009	Odontoonychodermal Dysplasia	34
2305	c	SPN299	Spinocerebellar Ataxia 20	34
2306	P	46X071	46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect	34
2307		MCR257	Microcephaly, Amish Type	34
2308		SYN106	Syndromic Craniosynostosis	34
2309	P	MXD016	Mixed Gonadal Dysgenesis	34
2310	c	STC013	Stickler Syndrome, Type Ii	34
2311	P	PRS124	Presynaptic Congenital Myasthenic Syndromes	33
2312		FCL084	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	33
2313	c	DFN192	Deafness, Autosomal Dominant 23	33
2314		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	33
2315		CKS001	Ck Syndrome	33
2316	c	CRN277	Craniosynostosis 2	33
2317	P	HYP700	Hypomyelinating Leukodystrophy	33
2318	c	MSC045	Muscular Dystrophy-Dystroglycanopathy , Type a, 3	33
2319	c	MCR246	Microcephaly 12, Primary, Autosomal Recessive	33
2320		MCR099	Microlissencephaly	33
2321		MCR119	Microtia, Hearing Impairment, and Cleft Palate	33
2322	c	OMD001	Omodysplasia 1	33
2323		OCL034	Oculocerebrocutaneous Syndrome	33
2324	c	MNT157	Mental Retardation, Autosomal Dominant 18	33
2325	c	GLC083	Glaucoma 3, Primary Infantile, B	33
2326	c	AML050	Amelogenesis Imperfecta, Type if	33
2327		PLY161	Polymicrogyria, Bilateral Perisylvian, X-Linked	33
2328	c	ICH045	Ichthyosis, Congenital, Autosomal Recessive 7	33
2329		PNT009	Pontine Tegmental Cap Dysplasia	33
2330	c	NML021	Nemaline Myopathy 9	32
2331		TRN029	Transient Bullous Dermolysis of the Newborn	32
2332		BRN133	Bronchomalacia	32
2333	c	NNN024	Noonan Syndrome 9	32
2334	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	32
2335		MLC004	Mulchandani-Bhoj-Conlin Syndrome	32
2336	P	CHR084	Chromosomal Disease	32
2337		PNC120	Pancreas, Dorsal, Agenesis of	32
2338	c	MSC166	Muscular Dystrophy-Dystroglycanopathy , Type a, 8	32
2339		ISL096	Isolated Klippel-Feil Syndrome	32
2340	P	SPN127	Spondyloepimetaphyseal Dysplasia Joint Laxity	32
2341	c	SVR040	Severe Congenital Nemaline Myopathy	32
2342		ACR017	Acrofacial Dysostosis	32
2343	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	32
2344		TBL008	Tibial Hemimelia	32
2345		TRC035	Tracheal Agenesis	32
2346		SLF015	Self-Improving Collodion Baby	32
2347		IVC001	Ivic Syndrome	32
2348	c	ADM010	Adams-Oliver Syndrome 5	32
2349	P	PRC050	Pericardium Disease	32
2350	c	DSB005	Desbuquois Dysplasia 2	31
2351	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	31
2352	P	RRL003	Rare Lymphatic Malformation	31
2353	c	KNN007	Kenny-Caffey Syndrome, Type 2	31
2354	c	KBK003	Kabuki Syndrome 2	31
2355		CNG538	Congenital Arthrogryposis with Anterior Horn Cell Disease	31
2356		VSC050	Vascular Malformation, Primary Intraosseous	31
2357	c	DYS162	Dystonia, Juvenile-Onset	31
2358	c	RNG029	Ring Chromosome 14 Syndrome	31
2359	c	PRX057	Peroxisome Biogenesis Disorder 4a	31
2360	c	ATS015	Autosomal Dominant Alport Syndrome	31
2361	c	DFN259	Deafness, Autosomal Recessive 86	31
2362		SHR106	Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans	31
2363		CHR226	Chromosome 1q41-Q42 Deletion Syndrome	31
2364		ISL061	Isolated Brachycephaly	31
2365		HYP648	Hypertension and Brachydactyly Syndrome	31
2366	c	ANT084	Anterior Segment Dysgenesis 3	31
2367	c	MYS044	Myasthenic Syndrome, Congenital, 7, Presynaptic	30
2368		SGR001	Sugarman Brachydactyly	30
2369	c	NRB014	Neuroblastoma 3	30
2370		OSC001	Oeis Complex	30
2371	c	INT274	Intermediate Congenital Nemaline Myopathy	30
2372		GBR007	Gabriele-De Vries Syndrome	30
2373		AML065	Amelia	30
2374		PYR018	Pyruvate Dehydrogenase Phosphatase Deficiency	30
2375	P	HYP723	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1	30
2376	c	CTR185	Cataract 30	30
2377		LMB010	Lambert Syndrome	30
2378		PRT101	Poretti-Boltshauser Syndrome	30
2379	c	CRN281	Craniosynostosis 7	30
2380	c	ATS336	Autosomal Recessive Nonsyndromic Deafness 3	30
2381	c	RTH007	Rothmund-Thomson Syndrome, Type 1	30
2382	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	30
2383	c	GLP004	Geleophysic Dysplasia 2	30
2384	c	CTR175	Cataract 24	29
2385	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	29
2386	c	MNT296	Mental Retardation, X-Linked, Syndromic 34	29
2387	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	29
2388		MNT290	Mental Retardation, X-Linked 99, Syndromic, Female-Restricted	29
2389		MNT266	Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects	29
2390		CHR270	Chromosome 9p Duplication	29
2391		PLM059	Pulmonary Atresia with Ventricular Septal Defect	29
2392	c	PNT033	Pontocerebellar Hypoplasia, Type 10	29
2393	c	SYN061	Syndactyly, Type Iv	29
2394	c	BRC045	Brachyolmia Type 3	29
2395		NBL001	Nablus Mask-Like Facial Syndrome	29
2396	c	MNT301	Mental Retardation, X-Linked 21	29
2397		TTR023	Tetraamelia-Multiple Malformations Syndrome	29
2398		ANG066	Angel-Shaped Phalangoepiphyseal Dysplasia	29
2399	P	CRN249	Cornea Plana	29
2400		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	29
2401	c	MSC167	Muscular Dystrophy-Dystroglycanopathy , Type a, 11	28
2402	c	HYP565	Hypogonadotropic Hypogonadism 3 with or Without Anosmia	28
2403	c	SHR033	Short Qt Syndrome 3	28
2404	c	HRD100	Hereditary Lymphedema Ic	28
2405		PRX085	Preaxial Hallucal Polydactyly	28
2406	c	RNG022	Ring Chromosome 6	28
2407	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	28
2408	c	OVR076	Ovarian Dysgenesis 2	28
2409	c	LKD023	Leukodystrophy, Hypomyelinating, 12	28
2410		TRC110	Tracheobronchial Stenosis, Congenital	28
2411	c	MNT270	Mental Retardation, Autosomal Recessive 53	28
2412		UNV002	Univentricular Heart	28
2413	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	28
2414	c	OMD002	Omodysplasia 2	28
2415	P	VCT008	Vacterl with Hydrocephalus	28
2416		HYP561	Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness	28
2417		48X001	48, Xxxx	28
2418		SHR112	Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies	28
2419		MLY010	Molybdenum Cofactor Deficiency, Complementation Group C	28
2420		CYL001	Cayler Cardiofacial Syndrome	28
2421	c	NML007	Nemaline Myopathy 6	28
2422	c	CTR181	Cataract 18	28
2423		ACR102	Acrorenal-Mandibular Syndrome	28
2424	c	MSC105	Muscular Dystrophy-Dystroglycanopathy , Type a, 13	28
2425	c	ORF023	Orofacial Cleft 4	28
2426	c	MNT262	Mental Retardation, Autosomal Dominant 42	28
2427	c	CTR121	Cataract 25	27
2428	c	ATS006	Autosomal Recessive Nonsyndromic Deafness	27
2429	c	RNG016	Ring Chromosome 20	27
2430		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	27
2431	c	DFN280	Deafness, Autosomal Recessive	27
2432	c	PNT051	Pontocerebellar Hypoplasia, Type 1d	27
2433	c	FRN032	Frontonasal Dysplasia 3	27
2434		FMR016	Femur-Fibula-Ulna Syndrome	27
2435	c	HTR009	Heterotaxy, Visceral, 2, Autosomal	27
2436	c	NRB015	Neuroblastoma 2	27
2437	c	MSC034	Muscular Dystrophy-Dystroglycanopathy , Type a, 5	27
2438		CHR393	Chromosome 19p13.13 Deletion Syndrome	27
2439	c	DFN277	Deafness, Autosomal Recessive 102	27
2440	P	BLT016	Bilateral Polymicrogyria	27
2441	c	RNG007	Ring Chromosome 12	27
2442	c	ATS005	Autosomal Dominant Nonsyndromic Deafness	27
2443		THR032	Thoracolaryngopelvic Dysplasia	27
2444	P	ACR093	Acrofrontofacionasal Dysostosis	27
2445		STB002	Satb2-Associated Syndrome	27
2446	c	CHR565	Chromosomal Deletion Syndrome	27
2447		UNL005	Unilateral Polymicrogyria	27
2448		CRL001	Cerulean Cataract	27
2449		CRT028	Cor Triatriatum	27
2450	c	PRX066	Peroxisome Biogenesis Disorder 3b	27
2451	c	LSS025	Lissencephaly 5	26
2452		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	26
2453	c	NNN027	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2	26
2454	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	26
2455	c	CRN217	Craniosynostosis 3	26
2456	c	PLM158	Palmoplantar Keratoderma and Congenital Alopecia 1	26
2457	c	THR069	Three M Syndrome 2	26
2458	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	26
2459		HMF010	Hemifacial Microsomia with Radial Defects	26
2460	c	HRD219	Hereditary Distal Renal Tubular Acidosis	26
2461	c	ORF016	Orofacial Cleft 8	26
2462	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	26
2463	c	FRN037	Frontal Encephalocele	26
2464		HYD054	Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation	26
2465	c	HYP521	Hypogonadotropic Hypogonadism 10 with or Without Anosmia	26
2466	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	26
2467	c	BSL030	Basal Encephalocele	26
2468	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	26
2469	c	DFN151	Deafness, Autosomal Dominant 24	26
2470	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	26
2471	c	SPN420	Spinocerebellar Ataxia 46	26
2472		ACR037	Acromegaloid Facial Appearance Syndrome	26
2473	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	26
2474	c	LPR007	Leopard Syndrome 3	26
2475		FTL073	Fetal Anticonvulsant Syndrome	26
2476		ULN023	Ulnar Hypoplasia	26
2477	c	CRB051	Cerebral Cavernous Malformation, Familial	26
2478		SHR097	Short Tarsus with Absence of Lower Eyelashes	26
2479		HRD037	Hardikar Syndrome	26
2480	c	CWD009	Cowden Syndrome 7	25
2481	c	DFN163	Deafness, Autosomal Dominant 7	25
2482	c	VNT024	Ventricular Septal Defect 3	25
2483	c	DFN118	Deafness, Autosomal Dominant 44	25
2484		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	25
2485	c	WLL038	Weill-Marchesani Syndrome 3	25
2486		OCL030	Oculoauriculofrontonasal Syndrome	25
2487	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	25
2488	c	LKD031	Leukodystrophy, Hypomyelinating, 18	25
2489	P	RCR026	Recurrent Hydatidiform Mole	25
2490	c	RNG024	Ring Chromosome 8	25
2491	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	25
2492		ACR020	Acropectorovertebral Dysplasia	25
2493		FBR088	Fibromatosis, Gingival, with Progressive Deafness	25
2494	c	GLY103	Glycosylphosphatidylinositol Biosynthesis Defect 15	25
2495		CHR366	Chromosome 5p13 Duplication Syndrome	25
2496		PSD030	Pseudodiastrophic Dysplasia	25
2497		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	25
2498	P	PLM069	Pulmonary Venous Return Anomaly	25
2499	c	DNR004	Duane Retraction Syndrome 2	25
2500	c	GLL046	Galloway-Mowat Syndrome 7	25
2501		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	25
2502	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	25
2503		SPN359	Spondyloepimetaphyseal Dysplasia, Shohat Type	25
2504		ATR055	Atrial Septal Aneurysm	25
2505	c	ACQ004	Acquired Hemangioma	25
2506	c	XLN227	X-Linked Chondrodysplasia Punctata 1	25
2507		ACL002	Acalvaria	25
2508	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	25
2509	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	25
2510	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	24
2511		MNT256	Mental Retardation, Buenos Aires Type	24
2512	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	24
2513		HYP638	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	24
2514		NRD026	Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies	24
2515	c	MLG148	Malignant Hyperthermia 2	24
2516		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	24
2517	c	ORF028	Orofacial Cleft 10	24
2518		CRB165	Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation	24
2519	c	LSS035	Lissencephaly 8	24
2520	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	24
2521	c	ART060	Arthrogryposis, Distal, Type 1b	24
2522	c	SPN372	Spinocerebellar Ataxia 43	24
2523		IST007	Isotretinoin Embryopathy-Like Syndrome	24
2524	c	DFN179	Deafness, Autosomal Recessive 62	24
2525		BCR002	Bicornuate Uterus	24
2526	c	ACR105	Acrofrontofacionasal Dysostosis 2	24
2527	c	ADL068	Adult-Onset Nemaline Myopathy	24
2528		CHR159	Charlie M Syndrome	24
2529	c	LTH039	Lethal Congenital Contracture Syndrome 11	24
2530		ACR079	Acrodysostosis with Multiple Hormone Resistance	24
2531	c	CTR116	Cataract 15, Multiple Types	24
2532	c	LKD022	Leukodystrophy, Hypomyelinating, 13	24
2533		MLL022	Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly	24
2534	c	MNT191	Mental Retardation, X-Linked, Syndromic 17	24
2535		ART037	Arthrogryposis and Ectodermal Dysplasia	24
2536	c	HYD041	Hydatidiform Mole, Recurrent, 2	24
2537	c	LTH027	Lethal Congenital Contracture Syndrome 5	24
2538	c	LKD027	Leukodystrophy, Hypomyelinating, 14	24
2539		LLS001	Lelis Syndrome	24
2540	c	DKP001	Dk Phocomelia Syndrome	24
2541	c	LTH029	Lethal Congenital Contracture Syndrome 9	24
2542		ACR101	Acrocraniofacial Dysostosis	23
2543	P	SPN236	Spina Bifida Cystica	23
2544	c	VSC046	Vesicoureteral Reflux 8	23
2545	c	FRS015	Fraser Syndrome 3	23
2546		MCR123	Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy	23
2547	c	SYN088	Synpolydactyly 2	23
2548	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	23
2549		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	23
2550		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	23
2551		GST035	Gestational Ovarian Choriocarcinoma	23
2552		CHR616	Chromosome 19q13.11 Deletion Syndrome, Distal	23
2553	c	CRT068	Cortical Dysplasia, Complex, with Other Brain Malformations 3	23
2554	c	DFN184	Deafness, Autosomal Recessive 85	23
2555		RGH010	Right Ventricular Hypoplasia, Isolated	23
2556	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	23
2557		CRN104	Craniotelencephalic Dysplasia	23
2558	c	EPL237	Epileptic Encephalopathy, Early Infantile, 72	23
2559		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	23
2560		FCC002	Faciocardiorenal Syndrome	23
2561	c	ART128	Arthrogryposis, Distal, Type 6	23
2562	c	FTL072	Fetal Akinesia Deformation Sequence 4	23
2563	c	SPN434	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3	23
2564		TTR019	Tetrasomy 5p	23
2565	c	CTR165	Cataract 19, Multiple Types	23
2566	c	LNR014	Linear Skin Defects with Multiple Congenital Anomalies 3	23
2567		CRS011	Criss-Cross Heart	23
2568		DRM041	Dermoid Cysts, Familial Frontonasal	23
2569	c	CTR110	Cataract 26, Multiple Types	23
2570		ERY043	Euryblepharon	23
2571	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	23
2572	c	DFN273	Deafness, Autosomal Recessive 101	23
2573		MNT254	Mental Retardation Syndrome, Mietens-Weber Type	22
2574	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	22
2575		LYM125	Lymphedema, Cardiac Septal Defects, and Characteristic Facies	22
2576		TBS009	Teebi-Shaltout Syndrome	22
2577	c	CRB209	Cerebellar Malformation	22
2578	c	MSC188	Muscular Dystrophy-Dystroglycanopathy , Type C, 8	22
2579		CRP034	Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia	22
2580	c	ORF039	Orofaciodigital Syndrome Vii	22
2581	c	VSC020	Vesicoureteral Reflux 2	22
2582	c	MLG149	Malignant Hyperthermia 3	22
2583		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	22
2584		PLR024	Pilarowski-Bjornsson Syndrome	22
2585	c	SPN419	Spinocerebellar Ataxia 45	22
2586	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	22
2587	c	AML048	Amelogenesis Imperfecta, Type Ih	22
2588	c	LTH031	Lethal Congenital Contracture Syndrome 6	22
2589	c	MYS081	Myasthenic Syndrome, Congenital, 24, Presynaptic	22
2590	c	46X059	46,xx Sex Reversal 4	22
2591		LRY046	Laryngeal Web, Familial	22
2592		ACR107	Acrofacial Dysostosis, Palagonia Type	22
2593		MTP004	Metaphyseal Acroscyphodysplasia	22
2594	c	CRT087	Cortical Dysplasia, Complex, with Other Brain Malformations 9	22
2595	c	PLY137	Polydactyly, Preaxial Iii	22
2596		CRB144	Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	22
2597	c	LTH026	Lethal Congenital Contracture Syndrome 4	21
2598	c	RNG019	Ring Chromosome 3	21
2599		MSC089	Mosaic Monosomy X	21
2600	c	CHR681	Charcot-Marie-Tooth Disease, Demyelinating, Type 1g	21
2601		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	21
2602		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	21
2603		TRT015	Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia	21
2604		OPT058	Optic Disc Anomalies with Retinal and/or Macular Dystrophy	21
2605	c	LKD029	Leukodystrophy, Hypomyelinating, 16	21
2606		MSL005	Mseleni Joint Disease	21
2607	c	SCN048	Secondary Syringomyelia	21
2608		SPN228	Spondyloepiphyseal Dysplasia, Nishimura Type	21
2609		ACR019	Acropectoral Syndrome	21
2610	c	PSD047	Pseudo-Turner Syndrome	21
2611	c	CNG578	Congenital Hemangioma	21
2612		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	21
2613	c	CNT111	Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1b	21
2614		HRS002	Hersh Podruch Weisskopk Syndrome	21
2615	c	ATS254	Autosomal Dominant Deafness-Onychodystrophy Syndrome	21
2616		ART137	Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect	21
2617	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	21
2618		MNT253	Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis	21
2619		DFN308	Deafness, Progressive, with Stapes Fixation	21
2620		CRT060	Cor Triatriatum Sinister	21
2621		FCL068	Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome	21
2622	c	CTR163	Cataract 46, Juvenile-Onset	21
2623		EXT062	Extracranial Carotid Artery Aneurysm	21
2624		BRC098	Brachydactyly-Nystagmus-Cerebellar Ataxia	21
2625		CLV012	Clavicle, Pseudarthrosis of, Congenital	21
2626		ACH039	Achalasia-Microcephaly Syndrome	20
2627		CRN076	Crane-Heise Syndrome	20
2628		INT231	Intellectual Disability - Athetosis - Microphthalmia	20
2629	P	SPN237	Spina Bifida Aperta	20
2630		HYD053	Hydrocephalus with Associated Malformations	20
2631		CHR483	Chromosome 3q13.31 Deletion Syndrome	20
2632		DRM042	Dermatoosteolysis, Kirghizian Type	20
2633	c	MLT166	Multiple Synostoses Syndrome 4	20
2634		HRR005	Harrod Syndrome	20
2635		ALR004	Alar Cleft, Isolated	20
2636	c	MGL035	Megalencephaly, Autosomal Dominant	20
2637		ANM074	Anomalous Origin of Coronary Artery from the Pulmonary Artery	20
2638		XQ2003	Xq25 Duplication Syndrome	20
2639		OCL071	Oculocerebral Hypopigmentation Syndrome of Preus	20
2640		DPL007	Duplication of Urethra	20
2641		ISL084	Isolated Trigonocephaly	20
2642	c	ORF014	Orofacial Cleft 5	20
2643		ECT085	Ectopia Cordis	20
2644	c	MRG016	Meier-Gorlin Syndrome 8	20
2645		FBR087	Fibromatosis, Gingival, with Distinctive Facies	20
2646		BRN125	Branchiogenic-Deafness Syndrome	20
2647	c	DFN157	Deafness, Autosomal Dominant 47	20
2648	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	20
2649		PHV001	Phaver Syndrome	20
2650		INT232	Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	20
2651		FCC003	Faciocardiomelic Dysplasia, Lethal	20
2652		RDL014	Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation	20
2653		LVC002	Levocardia	20
2654	c	MNS011	Monosomy 9q22.3	20
2655		INF164	Infantile Bartter Syndrome with Sensorineural Deafness	20
2656	c	RNG012	Ring Chromosome 17	20
2657		ULN014	Ulnar Hemimelia	20
2658	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	19
2659		RRV005	Rare Vascular Tumor	19
2660		ATR053	Atresia of Urethra	19
2661		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	19
2662		SYN112	Syndromic Microphthalmia-Anophthalmia-Coloboma	19
2663	c	PNT053	Pontocerebellar Hypoplasia, Type 13	19
2664	c	NLD011	Nail Disorder, Nonsyndromic Congenital, 2	19
2665		NSL017	Nasolacrimal Duct Cyst	19
2666		CNG260	Congenital Enterovirus Infection	19
2667	c	CNT094	Cantú Syndrome and Related Disorders	19
2668	c	DFN165	Deafness, Autosomal Recessive 14	19
2669		FLL034	Fallot Complex with Severe Mental and Growth Retardation	19
2670		MCR304	Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs	19
2671	c	GLY113	Glycosylphosphatidylinositol Biosynthesis Defect 21	19
2672		CRV062	Cervical Spina Bifida Cystica	19
2673	c	STS009	Sotos Syndrome 3	19
2674	c	FCL030	Facial Paresis, Hereditary Congenital, 1	19
2675		CRV063	Cervical Spina Bifida Aperta	19
2676		CHR567	Chromosome 5q12 Deletion Syndrome	19
2677		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	19
2678		FCL066	Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type	19
2679		PHC016	Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia	19
2680		MYC074	Myoclonus, Cerebellar Ataxia, and Deafness	19
2681		AML012	Ameloonychohypohidrotic Syndrome	19
2682		DBL007	Double Outlet Left Ventricle	19
2683		PTR028	Pterygia, Mental Retardation, and Distinctive Craniofacial Features	19
2684		OPT077	Optic Disc Pit	19
2685		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	19
2686		CMP074	Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye	19
2687	c	CNG579	Congenital Nemaline Myopathy	19
2688		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	19
2689	c	CRT089	Cortical Dysplasia, Complex, with Other Brain Malformations 10	19
2690	c	ORF020	Orofacial Cleft 12	19
2691		HLL013	Hall-Riggs Mental Retardation Syndrome	18
2692		OMP008	Omphalocele-Cleft Palate Syndrome, Lethal	18
2693		THY044	Thymic-Renal-Anal-Lung Dysplasia	18
2694		GTR012	Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies	18
2695		FTL058	Fetal Trimethadione Syndrome	18
2696		MNT257	Mental Retardation, X-Linked, with Craniofacial Dysmorphism	18
2697		KNS006	Kniest-Like Dysplasia, Lethal	18
2698		RDH004	Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies	18
2699		ORM001	Oro-Mandibular-Limb Hypogenesis Syndrome	18
2700	c	MCR108	Microphthalmia, Isolated 7	18
2701		MNT030	Mental Retardation Syndrome, Belgian Type	18
2702		ANR044	Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation	18
2703		OTN001	Otoonychoperoneal Syndrome	18
2704		CNC020	Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma	18
2705		ACT206	Acitretin/etretinate Embryopathy	18
2706	c	ATS311	Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related	18
2707	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	18
2708	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	18
2709		MCD004	Macdermot-Winter Syndrome	18
2710		DBL010	Double-Orifice Mitral Valve	18
2711		ECT090	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum	18
2712		FTL074	Fetal Lower Urinary Tract Obstruction	18
2713		GRW034	Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction	18
2714		ATR017	Atrial Septal Defect Coronary Sinus	18
2715	c	AML064	Amelogenesis Imperfecta, Type Iiic	18
2716	c	ERL044	Early-Onset Posterior Polar Cataract	18
2717		CLF033	Cleft Mitral Valve	18
2718	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	18
2719		CRN224	Craniofaciofrontodigital Syndrome	18
2720		CNG108	Congenital Mitral Stenosis	18
2721	c	DFN328	Deafness, Autosomal Dominant 72	18
2722		CLF047	Cleft-Limb-Heart Malformation Syndrome	18
2723		PRC021	Parc Syndrome	18
2724		THR084	Thoracolumbosacral Spina Bifida Cystica	18
2725	c	TTL008	Total Spina Bifida Cystica	18
2726		CRV064	Cervicothoracic Spina Bifida Aperta	18
2727	c	TTL009	Total Spina Bifida Aperta	18
2728		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	18
2729		BLP042	Blepharoptosis, Myopia, and Ectopia Lentis	18
2730	c	HYD067	Hydatidiform Mole, Recurrent, 3	18
2731	c	DFN337	Deafness, Autosomal Recessive 107	18
2732		HYP687	Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy	17
2733	c	PLY103	Polydactyly, Postaxial, Type A5	17
2734		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	17
2735		SPR065	Supernumerary Nostril	17
2736	c	MNT247	Mental Retardation, X-Linked 73	17
2737		MRF017	Marfanoid Mental Retardation Syndrome, Autosomal	17
2738		CXR001	Coxoauricular Syndrome	17
2739		TRC113	Trichoodontoonychial Dysplasia with Bone Deficiency	17
2740		KZL006	Kozlowski-Krajewska Syndrome	17
2741		BRC096	Brachydactyly-Distal Symphalangism Syndrome	17
2742		VCL007	Vocal Cord Paralysis and Ptosis	17
2743		CNG491	Congenital Portosystemic Shunt	17
2744	c	MNT204	Mental Retardation, X-Linked 23	17
2745		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	17
2746		SHR023	Short Stature Syndrome, Brussels Type	17
2747		WHT005	White Forelock with Malformations	17
2748		ARC009	Auriculoosteodysplasia	17
2749		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	17
2750		3Q2006	3q27.3 Microdeletion Syndrome	17
2751	c	DFN368	Deafness, Autosomal Dominant 74	17
2752		HYP688	Hypospadias-Mental Retardation Syndrome	17
2753	c	SYN056	Syndromic X-Linked Intellectual Disability 7	17
2754		9P1001	9p13 Microdeletion Syndrome	17
2755		EPL162	Epilepsy-Telangiectasia	17
2756		MCR207	Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma	17
2757		DFN312	Deafness, Congenital, with Vitiligo and Achalasia	17
2758		DYS183	Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas	17
2759	c	DFN379	Deafness, Autosomal Dominant 37	17
2760		HML049	Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities	17
2761		THM019	Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay	17
2762	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	17
2763		ARL006	Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation	17
2764		THR033	Thoracomelic Dysplasia	17
2765		THY105	Thyrocerebroretinal Syndrome	17
2766		TRG007	Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet	17
2767		LMB066	Limb Defects, Distal Transverse, with Mental Retardation and Spasticity	17
2768	c	DFN325	Deafness, Autosomal Recessive 108	17
2769	c	HYP759	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	17
2770		PTR031	Pterygium Colli and Mental Retardation with Facial and Digital Anomalies	17
2771	c	PST077	Posterior Meningocele	16
2772		SCT004	Scott Bryant Graham Syndrome	16
2773	c	MNT194	Mental Retardation, X-Linked 50	16
2774		CBT001	Cubitus Valgus with Mental Retardation and Unusual Facies	16
2775		CRN308	Coronary Arterial Fistula	16
2776		HND005	Hand and Foot Deformity with Flat Facies	16
2777		PLM065	Pulmonary Supravalvular Stenosis	16
2778		CNG330	Congenital Megacalycosis	16
2779		PCT002	Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails	16
2780	c	DFN261	Deafness, Autosomal Recessive 46	16
2781		3P2001	3p25.3 Microdeletion Syndrome	16
2782		TYS007	Tyshchenko Syndrome	16
2783		CLD006	Cleidorhizomelic Syndrome	16
2784	c	ZMM004	Zimmermann-Laband Syndrome 3	16
2785		CLF034	Cleft Hard Palate	16
2786		ABD008	Abidi X-Linked Mental Retardation Syndrome	16
2787		ISL118	Isolated Tracheoesophageal Fistula	16
2788		LNG102	Long-Thumb Brachydactyly Syndrome	16
2789		CMP016	Camptobrachydactyly	16
2790		CTR154	Cataract, Aberrant Oral Frenula, and Growth Retardation	16
2791		ART091	Aorto-Ventricular Tunnel	16
2792		HYP689	Hypomelia with Mullerian Duct Anomalies	16
2793		XLN085	X-Linked Complicated Spastic Paraplegia Type 1	16
2794		WHT018	White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	16
2795	c	CNG596	Congenital Ectropion	16
2796		ECT086	Ectrodactyly-Polydactyly	16
2797		INF132	Infantile Osteopetrosis with Neuroaxonal Dysplasia	16
2798	c	NRB011	Neuroblastoma 4	16
2799		PLY132	Polysyndactyly, Crossed	16
2800		MRF018	Marfanoid Habitus with Microcephaly and Glomerulonephritis	16
2801		NNS061	Non-Syndromic Pontocerebellar Hypoplasia	16
2802		DFN311	Deafness-Craniofacial Syndrome	16
2803		AZY001	Azygos Continuation of the Inferior Vena Cava	16
2804		DDL001	Didelphys Uterus	16
2805	c	CTR176	Cataract, Age-Related Nuclear	16
2806		SPN120	Spondylocamptodactyly	16
2807	c	NRB012	Neuroblastoma 5	16
2808		MSC086	Mesocardia	15
2809	</